CHR	POS	ID	GENOTYPE	CLNSIG	CLNDN	CLNVCSO	MC	CLNDISDB	GENEINFO	ORIGIN	CLNDISDBINCL	CLNHGVS	CLNREVSTAT	CLNVI	RS	CLNVC	AF_EXAC	AF_ESP	AF_TGP	ALLELEID	CLNDNINCL	CLNSIGINCL	CLNSIGCONF
1	948921	rs15842 - 1185394	C/C	Benign	Mendelian Susceptibility To Mycobacterial Diseases Due To Complete ISG15 Deficiency	SNV	5_prime_UTR_variant	MONDO MedGen:C4015293 OMIM:616126 Orphanet:319563	ISG15	Germline		NC_000001.10:g.948921T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1175251
1	949608	i6059248 - 402986	G/A	Benign	Not Provided Mendelian Susceptibility To Mycobacterial Diseases Due To Complete ISG15 Deficiency Not Specified	SNV	missense_variant	MedGen:CN517202 MONDO MedGen:C4015293 OMIM:616126 Orphanet:319563 MedGen:CN169374	ISG15	Germline		NC_000001.10:g.949608G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA507658	1921	Single Nucleotide Variant	0.37025	0.40158	0.33886	389314
1	957898	rs2799064 - 677944	G/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	AGRN	Germline		NC_000001.10:g.957898G>T	Criteria Provided Single Submitter		2799064	Single Nucleotide Variant			0.32847	656838
1	977780	rs2710875 - 677947	T/T	Benign	Congenital Myasthenic Syndrome 8 Not Provided	SNV	intron_variant	MONDO MedGen:C3808739 OMIM:615120 Orphanet:590 MedGen:CN517202	AGRN	Germline		NC_000001.10:g.977780C>T	Criteria Provided Multiple Submitters No Conflicts		2710875	Single Nucleotide Variant			0.80651	656915
1	984302	rs9442391 - 128307	C/T	Benign	Congenital Myasthenic Syndrome 8 Not Specified	SNV	synonymous_variant	MONDO MedGen:C3808739 OMIM:615120 Orphanet:590 MedGen:CN169374	AGRN	Germline		NC_000001.10:g.984302T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA151654	9442391	Single Nucleotide Variant	0.62948	0.45863	0.54573	133756
1	985266	rs2275813 - 263188	T/C	Benign	Congenital Myasthenic Syndrome 8 Not Specified	SNV	intron_variant	MONDO MedGen:C3808739 OMIM:615120 Orphanet:590 MedGen:CN169374	AGRN	Germline		NC_000001.10:g.985266C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA509626	2275813	Single Nucleotide Variant	0.54365	0.40222	0.49521	249338
1	987200	rs9803031 - 128317	T/T	Benign	Congenital Myasthenic Syndrome 8 Not Specified	SNV	intron_variant	MONDO MedGen:C3808739 OMIM:615120 Orphanet:590 MedGen:CN169374	AGRN	Germline		NC_000001.10:g.987200C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA151681	9803031	Single Nucleotide Variant	0.87569	0.75692	0.78874	133766
1	990280	rs4275402 - 128319	T/C	Benign	Congenital Myasthenic Syndrome 8 Not Specified	SNV	synonymous_variant	MONDO MedGen:C3808739 OMIM:615120 Orphanet:590 MedGen:CN169374	AGRN	Germline		NC_000001.10:g.990280C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA151685	4275402	Single Nucleotide Variant	0.63764	0.57916	0.58526	133768
1	990417	rs2465136 - 1292868	T/C	Benign	Not Provided	SNV	3_prime_UTR_variant	MedGen:CN517202	AGRN	Germline		NC_000001.10:g.990417T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1282674
1	1249187	rs12142199 - 1290897	G/A	Benign	Not Provided	SNV	synonymous_variant	MedGen:CN517202	INTS11	Germline		NC_000001.10:g.1249187G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1280725
1	1273116	rs307371 - 1277157	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	DVL1	Germline		NC_000001.10:g.1273116A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1267026
1	2234251	rs1496555 - 672361	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	SKI	Germline		NC_000001.10:g.2234251A>G	Criteria Provided Single Submitter		1496555	Single Nucleotide Variant			0.86681	657433
1	2338569	rs2494427 - 1259297	C/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	PEX10	Germline		NC_000001.10:g.2338569T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1250060
1	3103312	rs12135062 - 669013	G/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	PRDM16	Germline		NC_000001.10:g.3103312G>T	Criteria Provided Single Submitter		12135062	Single Nucleotide Variant			0.31390	657840
1	3312914	rs871822 - 674709	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	PRDM16	Germline		NC_000001.10:g.3312914T>G	Criteria Provided Single Submitter		871822	Single Nucleotide Variant	0.43363		0.46026	657755
1	3328358	rs870124 - 227026	C/C	Benign	Not Specified Left Ventricular Noncompaction 8	SNV	missense_variant	MedGen:CN169374 MONDO MedGen:C3809288 OMIM:615373 Orphanet:154 Orphanet:54260	PRDM16	Germline		NC_000001.10:g.3328358T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA544230 Uniprotkb:Q9HAZ2#VAR 031433	870124	Single Nucleotide Variant		0.87774	0.94509	228438
1	3732596	rs6662706 - 1291102	T/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	CEP104	Germline		NC_000001.10:g.3732596G>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1280922
1	3732707	rs6702935 - 1296175	C/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	CEP104	Germline		NC_000001.10:g.3732707T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1285970
1	3743132	rs4648344 - 1222061	C/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	CEP104	Germline		NC_000001.10:g.3743132T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1213623
1	3743391	rs6688969 - 1242626	T/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	CEP104	Germline		NC_000001.10:g.3743391C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1230881
1	3748085	rs7522227 - 1247756	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	CEP104	Germline		NC_000001.10:g.3748085A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1237710
1	3750167	rs2368533 - 1263291	A/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	CEP104	Germline		NC_000001.10:g.3750167G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1251909
1	3755675	rs1891941 - 1167874	C/C	Benign	Joubert Syndrome 25 Not Provided	SNV	synonymous_variant	MONDO MedGen:C4084842 OMIM:616781 Orphanet:475 MedGen:CN517202	CEP104	Germline		NC_000001.10:g.3755675T>C	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1153579
1	3756493	rs7535887 - 1234081	C/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	CEP104	Germline		NC_000001.10:g.3756493T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1224487
1	5923788	rs11121648 - 1290771	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	NPHP4	Germline		NC_000001.10:g.5923788T>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1280599
1	5924746	rs1287635 - 1287643	T/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	NPHP4	Germline		NC_000001.10:g.5924746T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1277475
1	5925371	rs1287634 - 260559	G/A	Benign	Nephronophthisis 4 Not Specified Not Provided	SNV	intron_variant	MONDO MedGen:C1847013 OMIM:606966 Orphanet:655 MedGen:CN169374 MedGen:CN517202	NPHP4	Germline		NC_000001.10:g.5925371G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA553514	1287634	Single Nucleotide Variant	0.44579	0.33790	0.31789	249994
1	5926507	rs555164 - 95683	T/C	Benign	Nephronophthisis Not Specified Not Provided Nephronophthisis 4 Senior-Loken Syndrome 4	SNV	SO:0001619 non-coding_transcript_variantSO:0001819 synonymous_variant	Human_Phenotype_Ontology:HP:0000090 Human_Phenotype_Ontology:HP:0004748 MONDO MedGen:C0687120 OMIM:PS256100 Orphanet:655 MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C1847013 OMIM:606966 Orphanet:655 MONDO MedGen:C1846979 OMIM:606996 Orphanet:3156	NPHP4	Germline		NC_000001.10:g.5926507T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA148747	555164	Single Nucleotide Variant	0.46043	0.34902	0.31969	101580
1	5934490	rs868163 - 260554	G/G	Benign	Not Provided Not Specified Nephronophthisis 4	SNV	intron_variant	MedGen:CN517202 MedGen:CN169374 MONDO MedGen:C1847013 OMIM:606966 Orphanet:655	NPHP4	Germline		NC_000001.10:g.5934490A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA553750	868163	Single Nucleotide Variant	0.65657	0.67292	0.56929	249999
1	5934500	rs905467 - 260553	T/C	Benign	Not Provided Not Specified	SNV	intron_variant	MedGen:CN517202 MedGen:CN169374	NPHP4	Germline		NC_000001.10:g.5934500T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA553753	905467	Single Nucleotide Variant	0.31427	0.17498	0.27117	250000
1	5934837	rs1287638 - 1294884	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	NPHP4	Germline		NC_000001.10:g.5934837C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1284680
1	5935222	rs963030 - 1269681	T/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	NPHP4	Germline		NC_000001.10:g.5935222T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1259539
1	5937091	rs1622955 - 1294883	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	NPHP4	Germline		NC_000001.10:g.5937091T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1284679
1	5965455	rs571655 - 240965	C/T	Benign/Likely Benign	Not Specified Kidney Disorder Nephronophthisis 4 Senior-Loken Syndrome 4 Nephronophthisis Not Provided	SNV	SO:0001583 missense_variantSO:0001619 non-coding_transcript_variant	MedGen:CN169374 Human_Phenotype_Ontology:HP:0000112 MONDO MedGen:C0022658 MONDO MedGen:C1847013 OMIM:606966 Orphanet:655 MONDO MedGen:C1846979 OMIM:606996 Orphanet:3156 Human_Phenotype_Ontology:HP:0000090 Human_Phenotype_Ontology:HP:0004748 MONDO MedGen:C0687120 OMIM:PS256100 Orphanet:655 MedGen:CN517202	NPHP4	5		NC_000001.10:g.5965455C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA554346 Uniprotkb:O75161#VAR 022532	571655	Single Nucleotide Variant	0.01026	0.01122	0.00519	238342
1	6007446	rs551207 - 1235266	T/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	NPHP4	Germline		NC_000001.10:g.6007446C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1223094
1	6007474	rs10779677 - 1287789	A/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	NPHP4	Germline		NC_000001.10:g.6007474G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1277621
1	6027167	rs875574 - 1249471	A/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	NPHP4	Germline		NC_000001.10:g.6027167C>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1241096
1	6158562	rs3205229 - 1285654	G/A	Benign	Not Provided	SNV	synonymous_variant	MedGen:CN517202	KCNAB2	Germline		NC_000001.10:g.6158562A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1275493
1	6196869	rs2250358 - 1228258	G/G	Benign	Not Provided	SNV	synonymous_variant	MedGen:CN517202	CHD5	Germline		NC_000001.10:g.6196869A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1218223
1	6579607	rs1556035 - 380860	T/C	Benign	Not Specified Charcot-Marie-Tooth Disease Recessive Intermediate C Autosomal Recessive Lower Motor Neuron Disease With Childhood Onset	SNV	5_prime_UTR_variant	MedGen:CN169374 MONDO MedGen:C3809309 OMIM:615376 Orphanet:369867 MONDO MedGen:C1970211 OMIM:611067 Orphanet:206580	PLEKHG5	Germline		NC_000001.10:g.6579607C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA562176	1556035	Single Nucleotide Variant	0.85231	0.77437	0.74601	365374
1	6579843	rs1010584 - 667919	T/C	Benign	Not Provided	SNV	5_prime_UTR_variant	MedGen:CN517202	PLEKHG5	Germline		NC_000001.10:g.6579843C>T	Criteria Provided Single Submitter		1010584	Single Nucleotide Variant			0.73542	658043
1	6580397	rs12046229 - 671304	C/T	Benign	Not Provided	SNV		MedGen:CN517202	PLEKHG5	Germline		NC_000001.10:g.6580397C>T	Criteria Provided Single Submitter		12046229	Single Nucleotide Variant			0.13558	658040
1	7812398	rs9919223 - 1192610	G/A	Benign	Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	SNV	intron_variant	MONDO MedGen:C3553661 OMIM:614756 Orphanet:314647	CAMTA1	Germline		NC_000001.10:g.7812398A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1182556
1	8395560	rs7535752 - 1333148	G/T	Benign	Intellectual Developmental Disorder With Neuropsychiatric Features	SNV	missense_variant	MONDO MedGen:C4479636 OMIM:617532	SLC45A1	Germline		NC_000001.10:g.8395560G>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1323905
1	8425900	rs3753275 - 1222151	T/C	Benign	Not Provided	SNV	SO:0001623 5_prime_UTR_variantSO:0001819 synonymous_variant	MedGen:CN517202	RERE	Germline		NC_000001.10:g.8425900T>C	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1213713
1	9098230	rs875996 - 1268127	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	SLC2A5	Germline		NC_000001.10:g.9098230C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1257177
1	9118596	rs12145292 - 1248972	C/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	SLC2A5	Germline		NC_000001.10:g.9118596C>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1238063
1	9129867	rs3820034 - 1261855	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	SLC2A5	Germline		NC_000001.10:g.9129867G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1250471
1	9129945	rs770041 - 1237506	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	SLC2A5	Germline		NC_000001.10:g.9129945A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1229127
1	9305445	rs34603401 - 1601522	A/C	Benign	Not Provided	SNV	missense_variant	MedGen:CN517202	H6PD	Germline		NC_000001.10:g.9305445A>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1523468
1	9323910	rs6688832 - 16131	G/A	Benign	Not Provided Cortisone Reductase Deficiency 1	SNV	missense_variant	MedGen:CN517202 MONDO MedGen:C3551716 OMIM:604931 Orphanet:168588	H6PD	Germline		NC_000001.10:g.9323910G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA126206 OMIM:138090.0002 Uniprotkb:O95479#VAR 026487	6688832	Single Nucleotide Variant			0.38958	31170
1	9324213	rs17368528 - 1600034	C/T	Benign	Not Provided	SNV	missense_variant	MedGen:CN517202	H6PD	Germline		NC_000001.10:g.9324213C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1662207
1	9324571	rs9434742 - 1540015	C/C	Benign	Not Provided	SNV	synonymous_variant	MedGen:CN517202	H6PD	Germline		NC_000001.10:g.9324571T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1630332
1	9782556	rs11589267 - 1227097	C/T	Benign	Immunodeficiency 14 Immunodeficiency 14B Autosomal Recessive Combined Immunodeficiency With Faciooculoskeletal Anomalies Not Provided	SNV	intron_variant	MONDO MedGen:C3714976 OMIM:615513 Orphanet:397596 MONDO MedGen:C5543301 OMIM:619281 MONDO MedGen:C2750068 OMIM:613328 Orphanet:221139 MedGen:CN517202	PIK3CD	Germline		NC_000001.10:g.9782556C>T	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1217069
1	10342629	rs3748576 - 1292705	A/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	KIF1B	Germline		NC_000001.10:g.10342629G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1282511
1	10421878	rs12125492 - 129400	A/G	Benign	Charcot-Marie-Tooth Disease Hereditary Cancer-Predisposing Syndrome Charcot-Marie-Tooth Disease Type 2 Not Specified Not Provided Neuroblastoma	SNV	synonymous_variant	MONDO MedGen:C0007959 OMIM:PS118220 Orphanet:166 MONDO MeSH:D009386 MedGen:C0027672 Orphanet:140162 MONDO MedGen:C0270914 Orphanet:64746 MedGen:CN169374 MedGen:CN517202 Human_Phenotype_Ontology:HP:0003006 Human_Phenotype_Ontology:HP:0006738 MONDO MeSH:D009447 MedGen:C0027819 Orphanet:635	KIF1B	Germline		NC_000001.10:g.10421878A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA153389	12125492	Single Nucleotide Variant	0.11276	0.09034	0.08027	134846
1	10431132	rs12141192 - 1180030	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	KIF1B	Germline		NC_000001.10:g.10431132C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1168755
1	10438687	rs1536262 - 291618	C/T	Benign	Neuroblastoma	SNV	3_prime_UTR_variant	Human_Phenotype_Ontology:HP:0003006 Human_Phenotype_Ontology:HP:0006738 MONDO MeSH:D009447 MedGen:C0027819 Orphanet:635	KIF1B	Germline		NC_000001.10:g.10438687C>T	Criteria Provided Single Submitter	Clingen:CA10607294	1536262	Single Nucleotide Variant			0.54653	275844
1	10441664	rs3748581 - 368794	T/C	Benign	Charcot-Marie-Tooth Disease Type 2 Pheochromocytoma Neuroblastoma	SNV		MONDO MedGen:C0270914 Orphanet:64746 Human_Phenotype_Ontology:HP:0002666 MONDO MedGen:C0031511 OMIM:171300 Orphanet:29072 Human_Phenotype_Ontology:HP:0003006 Human_Phenotype_Ontology:HP:0006738 MONDO MeSH:D009447 MedGen:C0027819 Orphanet:635	KIF1B	Germline		NC_000001.10:g.10441664T>C	Criteria Provided Single Submitter	Clingen:CA10654419	3748581	Single Nucleotide Variant			0.52696	353023
1	10555257	rs622623 - 1230681	T/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	PEX14	Germline		NC_000001.10:g.10555257C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1221932
1	10563609	rs10864459 - 1167532	G/G	Benign	Peroxisome Biogenesis Disorder Complementation Group K	SNV	intron_variant	MONDO MedGen:C1866257	PEX14	Germline		NC_000001.10:g.10563609A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1153157
1	10596388	rs2480779 - 1239907	G/G	Benign	Peroxisome Biogenesis Disorder 13A (Zellweger) Not Provided	SNV	intron_variant	MONDO MedGen:C3554004 OMIM:614887 Orphanet:912 MedGen:CN517202	PEX14	Germline		NC_000001.10:g.10596388A>G	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1229029
1	10682857	rs75827648 - 1295787	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	PEX14	Germline		NC_000001.10:g.10682857C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1285582
1	10708142	rs778228 - 1292023	A/G	Benign	Not Provided	SNV	synonymous_variant	MedGen:CN517202	CASZ1	Germline		NC_000001.10:g.10708142A>G	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1281837
1	10709441	rs284299 - 1288602	C/T	Benign	Not Provided	SNV	synonymous_variant	MedGen:CN517202	CASZ1	Germline		NC_000001.10:g.10709441C>T	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1278434
1	10713765	rs284294 - 1242540	T/C	Benign	Not Provided	SNV	synonymous_variant	MedGen:CN517202	CASZ1	Germline		NC_000001.10:g.10713765T>C	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1232082
1	10714402	rs56229092 - 1267157	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	CASZ1	Germline		NC_000001.10:g.10714402C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1254480
1	10719645	rs475980 - 1242884	A/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	CASZ1	Germline		NC_000001.10:g.10719645A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1231139
1	10725193	rs116460699 - 1659621	G/A	Benign	Not Provided	SNV	missense_variant	MedGen:CN517202	CASZ1	Germline		NC_000001.10:g.10725193G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1543350
1	10725387	rs17035539 - 1282664	T/C	Benign	Not Provided	SNV	synonymous_variant	MedGen:CN517202	CASZ1	Germline		NC_000001.10:g.10725387T>C	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1271233
1	10825577	rs11121615 - 1260902	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	CASZ1	Germline		NC_000001.10:g.10825577C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1253390
1	11074250	rs3765895 - 1293157	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	TARDBP	Germline		NC_000001.10:g.11074250A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1282962
1	11079077	rs2273348 - 1293144	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	TARDBP	Germline		NC_000001.10:g.11079077A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1282949
1	11086717	rs1033638 - 291772	G/G	Benign	Amyotrophic Lateral Sclerosis Dominant Frontotemporal Dementia Immunodeficiency Due To MASP-2 Deficiency	SNV	3_prime_UTR_variant	MedGen:CN239175 Human_Phenotype_Ontology:HP:0002145 MONDO MedGen:C0338451 OMIM:600274 Orphanet:282 MONDO MedGen:C3151085 OMIM:613791 Orphanet:331187	TARDBP	Germline		NC_000001.10:g.11086717A>G	Criteria Provided Single Submitter	Clingen:CA10607320	1033638	Single Nucleotide Variant			0.70967	275885
1	11087524	rs1782455 - 291781	A/A	Benign	Amyotrophic Lateral Sclerosis Dominant Not Specified Frontotemporal Dementia Immunodeficiency Due To MASP-2 Deficiency	SNV	synonymous_variant	MedGen:CN239175 MedGen:CN169374 Human_Phenotype_Ontology:HP:0002145 MONDO MedGen:C0338451 OMIM:600274 Orphanet:282 MONDO MedGen:C3151085 OMIM:613791 Orphanet:331187	TARDBP	Germline		NC_000001.10:g.11087524G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA586657	1782455	Single Nucleotide Variant	0.78550	0.67315	0.68750	275846
1	11090916	rs12711521 - 291786	A/A	Benign	Immunodeficiency Due To MASP-2 Deficiency Not Specified Not Provided	SNV	missense_variant	MONDO MedGen:C3151085 OMIM:613791 Orphanet:331187 MedGen:CN169374 MedGen:CN517202	MASP2	Germline		NC_000001.10:g.11090916C>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA586789 Uniprotkb:O00187#VAR 028785	12711521	Single Nucleotide Variant	0.73591	0.62979	0.58127	276142
1	11187893	rs1770344 - 1270259	C/C	Benign	Not Provided Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	SNV	intron_variant	MedGen:CN517202 MONDO MedGen:C4225259 OMIM:616638 Orphanet:457485	MTOR	Germline		NC_000001.10:g.11187893T>C	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1258871
1	11205058	rs1057079 - 516654	T/T	Benign	Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome Not Provided Not Specified	SNV	synonymous_variant	MONDO MedGen:C4225259 OMIM:616638 Orphanet:457485 MedGen:CN517202 MedGen:CN169374	MTOR	Germline		NC_000001.10:g.11205058C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA589563	1057079	Single Nucleotide Variant	0.67792	0.54590	0.54752	497979
1	11288618	rs4845985 - 1221669	A/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	MTOR	Germline		NC_000001.10:g.11288618G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1210781
1	11288633	rs4845986 - 1295251	C/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	MTOR	Germline		NC_000001.10:g.11288633G>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1285047
1	11288758	rs1064261 - 1170840	A/A	Benign	Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome Not Specified Not Provided	SNV	synonymous_variant	MONDO MedGen:C4225259 OMIM:616638 Orphanet:457485 MedGen:CN169374 MedGen:CN517202	MTOR	Germline		NC_000001.10:g.11288758G>A	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1153195
1	11289161	rs2076655 - 1238792	A/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	MTOR	Germline		NC_000001.10:g.11289161G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1226629
1	11292753	rs2024625 - 1246799	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	MTOR	Germline		NC_000001.10:g.11292753A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1236749
1	11292881	rs2746639 - 1270794	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	MTOR	Germline		NC_000001.10:g.11292881A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1261930
1	11293959	rs11121704 - 1248357	T/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	MTOR	Germline		NC_000001.10:g.11293959C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1240013
1	11297762	rs7524202 - 1174205	C/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	MTOR	Germline		NC_000001.10:g.11297762T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1163374
1	11301714	rs1135172 - 516653	G/G	Benign	Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome Not Provided Not Specified	SNV	synonymous_variant	MONDO MedGen:C4225259 OMIM:616638 Orphanet:457485 MedGen:CN517202 MedGen:CN169374	MTOR	Germline		NC_000001.10:g.11301714A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA590712	1135172	Single Nucleotide Variant	0.71698	0.58535	0.63958	498006
1	11318236	rs7525957 - 1238360	T/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	MTOR	Germline		NC_000001.10:g.11318236C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1227490
1	11319587	rs4845988 - 1231688	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	MTOR	Germline		NC_000001.10:g.11319587A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1220359
1	11322628	rs2295080 - 1167238	T/T	Benign	Not Provided	SNV	genic_upstream_transcript_variant	MedGen:CN517202	MTOR	Germline		NC_000001.10:g.11322628G>T	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1153206
1	11735245	rs878778 - 1921850	A/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	MAD2L2	Germline		NC_000001.10:g.11735245A>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1975580
1	11850365	rs4846049 - 292223	G/G	Benign	Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	SNV	3_prime_UTR_variant	MONDO MedGen:C1856058 OMIM:236250 Orphanet:395	MTHFR	Germline		NC_000001.10:g.11850365T>G	Criteria Provided Single Submitter	Clingen:CA10607890	4846049	Single Nucleotide Variant			0.62840	276753
1	11851118	rs7518348 - 1177028	G/G	Benign	Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency Not Provided	SNV	intron_variant	MONDO MedGen:C1856058 OMIM:236250 Orphanet:395 MedGen:CN517202	MTHFR	Germline		NC_000001.10:g.11851118A>G	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1166494
1	11854457	rs4846051 - 167306	A/A	Benign	Not Specified Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency Homocystinuria Due To MTHFR Deficiency	SNV	synonymous_variant	MedGen:CN169374 MONDO MedGen:C1856058 OMIM:236250 Orphanet:395 MedGen:C4017062	MTHFR	Germline		NC_000001.10:g.11854457G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA180202	4846051	Single Nucleotide Variant	0.96966	0.89051	0.90296	177842
1	11854755	rs1994798 - 1177042	A/G	Benign	Not Specified Not Provided Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	SNV	intron_variant	MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C1856058 OMIM:236250 Orphanet:395	MTHFR	Germline		NC_000001.10:g.11854755G>A	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1166496
1	11856378	rs1801133 - 3520	G/A	Drug Response	Methotrexate Response - Toxicity Not Specified Not Provided Gastrointestinal Stroma Tumor Neural Tube Defects Folate-Sensitive Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency Neoplasm Of Stomach Thrombophilia Due To Thrombin Defect Homocystinuria Due To MTHFR Deficiency MTHFR THERMOLABILE POLYMORPHISM Methotrexate Response - Metabolism/PK Stroke	SNV	missense_variant	MONDO MedGen:C0568062 Orphanet:565782 MedGen:CN169374 MedGen:CN517202 Human_Phenotype_Ontology:HP:0100723 MONDO MeSH:D046152 MedGen:C0238198 OMIM:606764 Orphanet:44890 MONDO MedGen:C1866558 OMIM:601634 Orphanet:823 MONDO MedGen:C1856058 OMIM:236250 Orphanet:395 Human_Phenotype_Ontology:HP:0006753 MONDO MedGen:C0038356 MONDO MedGen:C3160733 OMIM:188050 MedGen:C4017062 MedGen:C1856059 . Human_Phenotype_Ontology:HP:0001297 Human_Phenotype_Ontology:HP:0002452 MeSH:D020521 MedGen:C0038454	MTHFR	3		NC_000001.10:g.11856378G>A	Reviewed By Expert Panel	Clingen:CA170990 Genetic Testing Registry (GTR):GTR000327733 Genetic Testing Registry (GTR):GTR000330970 Genetic Testing Registry (GTR):GTR000500035 Genetic Testing Registry (GTR):GTR000500809 Genetic Testing Registry (GTR):GTR000593372 OMIM:607093.0003 Pharmgkb Clinical Annotation:981204929 Pharmgkb Clinical Annotation:981220481 Uniprotkb:P42898#VAR 009528	1801133	Single Nucleotide Variant	0.30367	0.27057	0.24541	18559
1	11884555	rs198400 - 1643105	G/G	Benign	Not Provided	SNV	SO:0001583 missense_variantSO:0001619 non-coding_transcript_variant	MedGen:CN517202	CLCN6	Germline		NC_000001.10:g.11884555A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1521596
1	11995176	rs1208984 - 683700	A/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	PLOD1	Germline		NC_000001.10:g.11995176A>G	Criteria Provided Single Submitter		1208984	Single Nucleotide Variant			0.38578	657026
1	12052405	rs6675934 - 683180	A/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	MFN2	Germline		NC_000001.10:g.12052405G>A	Criteria Provided Single Submitter		6675934	Single Nucleotide Variant			0.94529	657052
1	12059412	rs2295281 - 684255	T/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	MFN2	Germline		NC_000001.10:g.12059412C>T	Criteria Provided Single Submitter		2295281	Single Nucleotide Variant			0.41114	657012
1	12067044	rs7550536 - 676150	G/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	MFN2	Germline		NC_000001.10:g.12067044T>G	Criteria Provided Single Submitter		7550536	Single Nucleotide Variant			0.52676	657063
1	12252955	rs1061622 - 1048802	G/G	Uncertain Significance	Susceptibility To Severe Coronavirus Disease (COVID-19) Due To High Plasma Levels Of TNF TNFR And/Or TNFR2 Susceptibility To Severe Coronavirus Disease (COVID-19)	SNV	missense_variant	. .	TNFRSF1B	Germline		NC_000001.10:g.12252955T>G	No Assertion Criteria Provided			Single Nucleotide Variant				1036917
1	12267292	rs3397 - 1048803	C/T	Uncertain Significance	Susceptibility To Severe Coronavirus Disease (COVID-19) Due To High Plasma Levels Of TNF TNFR And/Or TNFR3 Susceptibility To Severe Coronavirus Disease (COVID-19)	SNV	3_prime_UTR_variant	. .	TNFRSF1B	Germline		NC_000001.10:g.12267292C>T	No Assertion Criteria Provided			Single Nucleotide Variant				1036918
1	12401868	rs28551666 - 1274892	C/A	Benign	Autosomal Recessive Cerebellar Ataxia-Saccadic Intrusion Syndrome Not Provided	SNV	synonymous_variant	MONDO MedGen:C1846492 OMIM:607317 Orphanet:95434 MedGen:CN517202	VPS13D	Germline		NC_000001.10:g.12401868A>C	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1265428
1	12418700	rs10864552 - 1227847	C/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	VPS13D	Germline		NC_000001.10:g.12418700T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1215239
1	15772933	rs555015 - 1225298	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	CTRC	Germline		NC_000001.10:g.15772933A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1216565
1	16046109	rs1006147 - 1225084	T/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	PLEKHM2	Germline		NC_000001.10:g.16046109C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1216351
1	16255644	rs848208 - 1233038	T/T	Benign	Not Provided	SNV	missense_variant	MedGen:CN517202	SPEN	Germline		NC_000001.10:g.16255644C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1223450
1	16259813	rs848210 - 1268492	G/G	Benign	Not Provided Radio-Tartaglia Syndrome	SNV	missense_variant	MedGen:CN517202 MONDO MedGen:C5543339 OMIM:619312	SPEN	Germline		NC_000001.10:g.16259813A>G	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1258399
1	16260916	rs848211 - 1342068	T/T	Benign	Not Provided	SNV	synonymous_variant	MedGen:CN517202	SPEN	Germline		NC_000001.10:g.16260916C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1333466
1	16271180	rs848216 - 1283106	C/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ZBTB17	Germline		NC_000001.10:g.16271180T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1270815
1	16354590	rs12126269 - 1267006	T/T	Benign	Not Provided	SNV	missense_variant	MedGen:CN517202	CLCNKA	Germline		NC_000001.10:g.16354590A>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1254329
1	16371932	rs6604909 - 1183407	C/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	CLCNKB	Germline		NC_000001.10:g.16371932A>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1170609
1	16373124	rs5257 - 447104	G/G	Benign	Not Specified Not Provided Bartter Disease Type 3 Bartter Disease Type 4B	SNV	synonymous_variant	MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C1846343 OMIM:607364 Orphanet:112 Orphanet:93605 MONDO MedGen:C4310805 OMIM:613090 Orphanet:112	CLCNKB	Germline		NC_000001.10:g.16373124A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA623267	5257	Single Nucleotide Variant	0.80223	0.67215	0.74042	440387
1	16374330	rs945403 - 1209691	G/G	Benign	Bartter Disease Type 3 Bartter Disease Type 4B Not Provided	SNV	intron_variant	MONDO MedGen:C1846343 OMIM:607364 Orphanet:112 Orphanet:93605 MONDO MedGen:C4310805 OMIM:613090 Orphanet:112 MedGen:CN517202	CLCNKB	Germline		NC_000001.10:g.16374330A>G	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1199668
1	16376831	rs10803412 - 1249220	T/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	CLCNKB	Germline		NC_000001.10:g.16376831C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1238311
1	16451413	rs1803527 - 293400	T/T	Benign	Not Provided Cataract 6 Multiple Types	SNV	3_prime_UTR_variant	MedGen:CN517202 MONDO MedGen:C1861825 OMIM:116600 Orphanet:91492	EPHA2	Germline		NC_000001.10:g.16451413C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA10608561	1803527	Single Nucleotide Variant			0.90575	278005
1	16456176	rs3768294 - 1183796	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	EPHA2	Germline		NC_000001.10:g.16456176G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1170615
1	16459745	rs10907223 - 259389	G/A	Benign	Cataract 6 Multiple Types Not Specified Not Provided	SNV	synonymous_variant	MONDO MedGen:C1861825 OMIM:116600 Orphanet:91492 MedGen:CN169374 MedGen:CN517202	EPHA2	Germline		NC_000001.10:g.16459745G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA624985	10907223	Single Nucleotide Variant	0.09176	0.16131	0.19269	249479
1	16460541	rs6603855 - 1246605	T/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	EPHA2	Germline		NC_000001.10:g.16460541T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1236556
1	16464260	rs11260742 - 1261607	T/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	EPHA2	Germline		NC_000001.10:g.16464260T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1251514
1	17312743	i6058871 - 128475	C/T	Benign	Autosomal Recessive Spastic Paraplegia Type 78 Kufor-Rakeb Syndrome Inborn Genetic Diseases Not Specified Not Provided	SNV	SO:0001583 missense_variantSO:0001819 synonymous_variant	MONDO MedGen:C5567893 OMIM:617225 Orphanet:513436 MONDO MedGen:C1847640 OMIM:606693 Orphanet:306674 Orphanet:314632 MeSH:D030342 MedGen:C0950123 MedGen:CN169374 MedGen:CN517202	ATP13A2	Germline		NC_000001.10:g.17312743C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA151963	3170740	Single Nucleotide Variant	0.50653	0.42132	0.33127	133924
1	17331676	rs3738814 - 1270274	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ATP13A2	Germline		NC_000001.10:g.17331676A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1258886
1	17359676	rs1022580 - 258889	A/A	Benign	Not Specified Not Provided Mitochondrial Complex 2 Deficiency Nuclear Type 4 Gastrointestinal Stroma Tumor Paragangliomas 4 Pheochromocytoma	SNV	intron_variant	MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C5543176 OMIM:619224 Human_Phenotype_Ontology:HP:0100723 MONDO MeSH:D046152 MedGen:C0238198 OMIM:606764 Orphanet:44890 MONDO MedGen:C1861848 OMIM:115310 Orphanet:29072 Human_Phenotype_Ontology:HP:0002666 MONDO MedGen:C0031511 OMIM:171300 Orphanet:29072	SDHB	Germline		NC_000001.10:g.17359676C>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA089539	1022580	Single Nucleotide Variant	0.97189	0.95233	0.95907	249532
1	17405949	rs2057094 - 972889	C/T	Association	Rheumatoid Arthritis Abnormal Pulmonary Interstitial Morphology	SNV	intron_variant	Human_Phenotype_Ontology:HP:0001370 MONDO MedGen:C0003873 OMIM:180300 Orphanet:284130 Human_Phenotype_Ontology:HP:0006513 Human_Phenotype_Ontology:HP:0006530 Human_Phenotype_Ontology:HP:0006547 MONDO MedGen:C5441745 Orphanet:182095	PADI2	Germline		NC_000001.10:g.17405949C>T	No Assertion Criteria Provided		2057094	Single Nucleotide Variant	0.55596	0.56943	0.50479	961211
1	17444769	rs1005753 - 972891	T/G	Association	Rheumatoid Arthritis Abnormal Pulmonary Interstitial Morphology	SNV	intron_variant	Human_Phenotype_Ontology:HP:0001370 MONDO MedGen:C0003873 OMIM:180300 Orphanet:284130 Human_Phenotype_Ontology:HP:0006513 Human_Phenotype_Ontology:HP:0006530 Human_Phenotype_Ontology:HP:0006547 MONDO MedGen:C5441745 Orphanet:182095	PADI2	Germline		NC_000001.10:g.17444769G>T	No Assertion Criteria Provided		1005753	Single Nucleotide Variant			0.60164	961213
1	17657534	rs11203366 - 972892	A/G	Association	Rheumatoid Arthritis Abnormal Pulmonary Interstitial Morphology	SNV	missense_variant	Human_Phenotype_Ontology:HP:0001370 MONDO MedGen:C0003873 OMIM:180300 Orphanet:284130 Human_Phenotype_Ontology:HP:0006513 Human_Phenotype_Ontology:HP:0006530 Human_Phenotype_Ontology:HP:0006547 MONDO MedGen:C5441745 Orphanet:182095	PADI4	Germline		NC_000001.10:g.17657534G>A	No Assertion Criteria Provided		11203366	Single Nucleotide Variant	0.56122	0.54536	0.52456	961214
1	17657616	rs11203367 - 972893	C/T	Association	Rheumatoid Arthritis Abnormal Pulmonary Interstitial Morphology	SNV	missense_variant	Human_Phenotype_Ontology:HP:0001370 MONDO MedGen:C0003873 OMIM:180300 Orphanet:284130 Human_Phenotype_Ontology:HP:0006513 Human_Phenotype_Ontology:HP:0006530 Human_Phenotype_Ontology:HP:0006547 MONDO MedGen:C5441745 Orphanet:182095	PADI4	Germline		NC_000001.10:g.17657616T>C	No Assertion Criteria Provided		11203367	Single Nucleotide Variant	0.56409	0.55351	0.53335	961215
1	17660499	rs874881 - 972895	C/G	Association	Rheumatoid Arthritis Abnormal Pulmonary Interstitial Morphology	SNV	missense_variant	Human_Phenotype_Ontology:HP:0001370 MONDO MedGen:C0003873 OMIM:180300 Orphanet:284130 Human_Phenotype_Ontology:HP:0006513 Human_Phenotype_Ontology:HP:0006530 Human_Phenotype_Ontology:HP:0006547 MONDO MedGen:C5441745 Orphanet:182095	PADI4	Germline		NC_000001.10:g.17660499G>C	No Assertion Criteria Provided		874881	Single Nucleotide Variant		0.52906	0.52197	961216
1	17662639	rs2240340 - 590790	C/T	Association	Rheumatoid Arthritis	SNV	intron_variant	Human_Phenotype_Ontology:HP:0001370 MONDO MedGen:C0003873 OMIM:180300 Orphanet:284130	PADI4	Germline		NC_000001.10:g.17662639T>C	No Assertion Criteria Provided		2240340	Single Nucleotide Variant	0.56192	0.53975	0.51518	581729
1	17662662	rs1748033 - 972894	C/T	Association	Rheumatoid Arthritis Abnormal Pulmonary Interstitial Morphology	SNV	synonymous_variant	Human_Phenotype_Ontology:HP:0001370 MONDO MedGen:C0003873 OMIM:180300 Orphanet:284130 Human_Phenotype_Ontology:HP:0006513 Human_Phenotype_Ontology:HP:0006530 Human_Phenotype_Ontology:HP:0006547 MONDO MedGen:C5441745 Orphanet:182095	PADI4	Germline		NC_000001.10:g.17662662T>C	No Assertion Criteria Provided		1748033	Single Nucleotide Variant	0.63733	0.63624	0.59185	961217
1	17722363	rs7538876 - 704516	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	PADI6	Germline		NC_000001.10:g.17722363G>A	Criteria Provided Single Submitter		7538876	Single Nucleotide Variant			0.32248	690423
1	19027239	rs2743201 - 1326989	A/G	Benign	Myopathy Congenital Progressive With Scoliosis	SNV	synonymous_variant	MONDO MedGen:C5231417 OMIM:618578	PAX7	Germline		NC_000001.10:g.19027239A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1317489
1	19199221	rs11740 - 294359	T/C	Benign	Deficiency Of Pyrroline-5-Carboxylate Reductase	SNV	SO:0001624 3_prime_UTR_variantSO:0001627 intron_variant	MONDO MedGen:C2931835 OMIM:239510 Orphanet:79101	ALDH4A1	Germline		NC_000001.10:g.19199221C>T	Criteria Provided Single Submitter	Clingen:CA10609121	11740	Single Nucleotide Variant			0.47145	279071
1	19201956	rs2230708 - 294369	G/A	Benign	Deficiency Of Pyrroline-5-Carboxylate Reductase Not Specified	SNV	synonymous_variant	MONDO MedGen:C2931835 OMIM:239510 Orphanet:79101 MedGen:CN169374	ALDH4A1	Germline		NC_000001.10:g.19201956A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA646923	2230708	Single Nucleotide Variant	0.72982	0.70221	0.73722	279074
1	19202917	rs7550938 - 294375	C/T	Benign	Deficiency Of Pyrroline-5-Carboxylate Reductase Not Provided Not Specified	SNV	SO:0001627 intron_variantSO:0001819 synonymous_variant	MONDO MedGen:C2931835 OMIM:239510 Orphanet:79101 MedGen:CN517202 MedGen:CN169374	ALDH4A1	Germline		NC_000001.10:g.19202917T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA646992	7550938	Single Nucleotide Variant	0.70245	0.62302	0.66094	278122
1	19415304	rs1043899 - 1334332	T/C	Benign	Not Provided	SNV	synonymous_variant	MedGen:CN517202	UBR4	Germline		NC_000001.10:g.19415304C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1325204
1	19549864	rs2073105 - 1255381	T/C	Benign	Cerebellar Atrophy Visual Impairment And Psychomotor Retardation%3B	SNV	intron_variant	MONDO MedGen:C4225172 OMIM:616875	EMC1	Germline		NC_000001.10:g.19549864T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1245313
1	19565344	i6059067 - 1166517	G/C	Benign	Not Provided Cerebellar Atrophy Visual Impairment And Psychomotor Retardation%3B	SNV	missense_variant	MedGen:CN517202 MONDO MedGen:C4225172 OMIM:616875	EMC1	Germline		NC_000001.10:g.19565344C>G	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1153392
1	19566296	rs2273046 - 1170216	T/C	Benign	Not Provided Cerebellar Atrophy Visual Impairment And Psychomotor Retardation%3B	SNV	intron_variant	MedGen:CN517202 MONDO MedGen:C4225172 OMIM:616875	EMC1	Germline		NC_000001.10:g.19566296T>C	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1153393
1	19568972	rs710865 - 1166518	G/A	Benign	Not Provided Cerebellar Atrophy Visual Impairment And Psychomotor Retardation%3B	SNV	intron_variant	MedGen:CN517202 MONDO MedGen:C4225172 OMIM:616875	EMC1	Germline		NC_000001.10:g.19568972A>G	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1153398
1	20964328	rs2298298 - 262027	G/G	Benign	Not Specified Autosomal Recessive Early-Onset Parkinson Disease 6 Not Provided	SNV	intron_variant	MedGen:CN169374 MONDO MedGen:C1853833 OMIM:605909 Orphanet:2828 MedGen:CN517202	PINK1	Germline		NC_000001.10:g.20964328A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA660409	2298298	Single Nucleotide Variant	0.86228	0.84338	0.82189	249677
1	20972048	rs3131713 - 262028	A/A	Benign	Not Specified Not Provided Autosomal Recessive Early-Onset Parkinson Disease 6	SNV	intron_variant	MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C1853833 OMIM:605909 Orphanet:2828	PINK1	Germline		NC_000001.10:g.20972048G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA660651	3131713	Single Nucleotide Variant	0.86276	0.84423	0.82069	249678
1	20977221	rs686658 - 295011	T/T	Benign	Parkinson Disease Recessive Not Provided Congenital Disorder Of Glycosylation Autosomal Recessive Early-Onset Parkinson Disease 6	SNV	SO:0001619 non-coding_transcript_variantSO:0001624 3_prime_UTR_variant	MedGen:CN239372 MedGen:CN517202 MONDO MedGen:C0282577 Orphanet:137 MONDO MedGen:C1853833 OMIM:605909 Orphanet:2828	DDOST	Germline		NC_000001.10:g.20977221A>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA660935	686658	Single Nucleotide Variant	0.86389	0.85335	0.83447	278644
1	20977599	rs8064 - 295018	C/G	Benign/Likely Benign	Parkinson Disease Recessive Not Provided Congenital Disorder Of Glycosylation Autosomal Recessive Early-Onset Parkinson Disease 6	SNV	SO:0001619 non-coding_transcript_variantSO:0001624 3_prime_UTR_variant	MedGen:CN239372 MedGen:CN517202 MONDO MedGen:C0282577 Orphanet:137 MONDO MedGen:C1853833 OMIM:605909 Orphanet:2828	DDOST	Germline		NC_000001.10:g.20977599C>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA10608867	8064	Single Nucleotide Variant			0.11502	278658
1	20978058	rs650616 - 1710533	A/A	Uncertain Risk Allele	Leprosy Susceptibility To 1	SNV	non-coding_transcript_variant	MONDO MedGen:C1835932 OMIM:609888 Orphanet:548	PINK1	Inherited		NC_000001.10:g.20978058G>A	No Assertion Criteria Provided			Single Nucleotide Variant				1708944
1	20979818	rs622525 - 1221944	T/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	DDOST	Germline		NC_000001.10:g.20979818A>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1213506
1	20980880	rs607254 - 95261	G/A	Benign	Not Specified Congenital Disorder Of Glycosylation Type Ir	SNV	intron_variant	MedGen:CN169374 MONDO MedGen:C3281084 OMIM:614507 Orphanet:300536	DDOST	Germline		NC_000001.10:g.20980880G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA148362	607254	Single Nucleotide Variant	0.38779	0.38627	0.35723	101160
1	20982631	rs4704 - 295156	A/G	Benign	Parkinson Disease Recessive Congenital Disorder Of Glycosylation Type Ir Congenital Disorder Of Glycosylation Not Specified	SNV	synonymous_variant	MedGen:CN239372 MONDO MedGen:C3281084 OMIM:614507 Orphanet:300536 MONDO MedGen:C0282577 Orphanet:137 MedGen:CN169374	DDOST	Germline		NC_000001.10:g.20982631G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA661292	4704	Single Nucleotide Variant	0.58439	0.65024	0.58726	278588
1	20987873	rs537816 - 1164173	C/C	Benign	Congenital Disorder Of Glycosylation Type Ir	SNV		MONDO MedGen:C3281084 OMIM:614507 Orphanet:300536	DDOST	Germline		NC_000001.10:g.20987873G>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1153430
1	21582425	rs212522 - 258078	C/T	Benign	Not Provided Not Specified	SNV	intron_variant	MedGen:CN517202 MedGen:CN169374	ECE1	Germline		NC_000001.10:g.21582425C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA665300	212522	Single Nucleotide Variant	0.12931	0.09280	0.11462	249714
1	21617245	rs213045 - 9134	G/T	Risk Factor		SNV	intron_variant		ECE1	Germline		NC_000001.10:g.21617245G>T	No Assertion Criteria Provided	OMIM:600423.0002		Single Nucleotide Variant				24173
1	21887290	rs1767430 - 1242310	C/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ALPL	Germline		NC_000001.10:g.21887290C>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1231853
1	21889506	rs1256336 - 1177624	C/T	Benign	Not Provided Adult Hypophosphatasia Childhood Hypophosphatasia Infantile Hypophosphatasia	SNV	intron_variant	MedGen:CN517202 MedGen:C0268413 OMIM:146300 Orphanet:247676 Orphanet:436 MedGen:C0220743 OMIM:241510 Orphanet:247667 Orphanet:436 MedGen:C0268412 OMIM:241500 Orphanet:247651 Orphanet:436	ALPL	Germline		NC_000001.10:g.21889506C>T	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1167072
1	21889635	rs1780316 - 197678	C/C	Benign	Not Specified Not Provided Hypophosphatasia Childhood Hypophosphatasia Adult Hypophosphatasia Infantile Hypophosphatasia	SNV	synonymous_variant	MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C0020630 Orphanet:436 MedGen:C0220743 OMIM:241510 Orphanet:247667 Orphanet:436 MedGen:C0268413 OMIM:146300 Orphanet:247676 Orphanet:436 MedGen:C0268412 OMIM:241500 Orphanet:247651 Orphanet:436	ALPL	Germline		NC_000001.10:g.21889635T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA203015	1780316	Single Nucleotide Variant	0.94498	0.92173	0.92951	194839
1	21890386	rs1256335 - 1188974	A/A	Benign	Not Provided Childhood Hypophosphatasia	SNV	intron_variant	MedGen:CN517202 MedGen:C0220743 OMIM:241510 Orphanet:247667 Orphanet:436	ALPL	Germline		NC_000001.10:g.21890386G>A	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1178860
1	21894735	rs3738099 - 198423	T/C	Benign	Not Specified Not Provided Hypophosphatasia Osteogenesis Imperfecta Adult Hypophosphatasia Infantile Hypophosphatasia Childhood Hypophosphatasia	SNV	missense_variant	MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C0020630 Orphanet:436 MONDO MeSH:D010013 MedGen:C0029434 OMIM:PS166200 Orphanet:666 MedGen:C0268413 OMIM:146300 Orphanet:247676 Orphanet:436 MedGen:C0268412 OMIM:241500 Orphanet:247651 Orphanet:436 MedGen:C0220743 OMIM:241510 Orphanet:247667 Orphanet:436	ALPL	Germline		NC_000001.10:g.21894735T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA203411 Uniprotkb:P05186#VAR 006161	3200254	Single Nucleotide Variant	0.17910	0.15877	0.26697	195584
1	21894816	rs3738097 - 1177588	T/C	Benign	Not Provided Infantile Hypophosphatasia Childhood Hypophosphatasia Adult Hypophosphatasia	SNV	intron_variant	MedGen:CN517202 MedGen:C0268412 OMIM:241500 Orphanet:247651 Orphanet:436 MedGen:C0220743 OMIM:241510 Orphanet:247667 Orphanet:436 MedGen:C0268413 OMIM:146300 Orphanet:247676 Orphanet:436	ALPL	Germline		NC_000001.10:g.21894816T>C	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1167074
1	21895008	rs1256331 - 1264498	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ALPL	Germline		NC_000001.10:g.21895008C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1256119
1	21900420	rs2275370 - 1236467	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ALPL	Germline		NC_000001.10:g.21900420A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1228176
1	21902950	rs1780329 - 1177605	C/A	Benign	Not Provided Childhood Hypophosphatasia Infantile Hypophosphatasia Adult Hypophosphatasia	SNV	intron_variant	MedGen:CN517202 MedGen:C0220743 OMIM:241510 Orphanet:247667 Orphanet:436 MedGen:C0268412 OMIM:241500 Orphanet:247651 Orphanet:436 MedGen:C0268413 OMIM:146300 Orphanet:247676 Orphanet:436	ALPL	Germline		NC_000001.10:g.21902950C>A	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1167077
1	21904267	rs1697406 - 295561	G/G	Benign	Hypophosphatasia Not Provided	SNV	3_prime_UTR_variant	MONDO MedGen:C0020630 Orphanet:436 MedGen:CN517202	ALPL	Germline		NC_000001.10:g.21904267A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA10609024	1697406	Single Nucleotide Variant			0.86821	278910
1	21904574	rs2242421 - 295567	A/G	Benign	Hypophosphatasia	SNV	3_prime_UTR_variant	MONDO MedGen:C0020630 Orphanet:436	ALPL	Germline		NC_000001.10:g.21904574A>G	Criteria Provided Single Submitter	Clingen:CA10609830	2242421	Single Nucleotide Variant			0.22205	280356
1	22158363	rs4654771 - 1237413	A/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	HSPG2	Germline		NC_000001.10:g.22158363G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1226537
1	22160148	rs7547731 - 1223305	T/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	HSPG2	Germline		NC_000001.10:g.22160148C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1211127
1	22163153	rs12567651 - 1245162	C/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	HSPG2	Germline		NC_000001.10:g.22163153A>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1235115
1	22168216	rs7556412 - 1231634	T/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	HSPG2	Germline		NC_000001.10:g.22168216C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1220306
1	22174600	rs3767138 - 295787	G/G	Benign	Not Provided Schwartz-Jampel Syndrome Lethal Kniest-Like Syndrome	SNV	intron_variant	MedGen:CN517202 MONDO MedGen:C0036391 Orphanet:800 MONDO MedGen:C1857100 OMIM:224410 Orphanet:1865	HSPG2	Germline		NC_000001.10:g.22174600A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA671072	3767138	Single Nucleotide Variant	0.81156	0.78387	0.76198	280605
1	22180548	rs12117402 - 1293473	C/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	HSPG2	Germline		NC_000001.10:g.22180548T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1283278
1	22183739	rs2305562 - 1220862	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	HSPG2	Germline		NC_000001.10:g.22183739A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1212549
1	22191454	rs897471 - 291236	A/A	Benign	Not Specified Not Provided Lethal Kniest-Like Syndrome Schwartz-Jampel Syndrome	SNV	missense_variant	MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C1857100 OMIM:224410 Orphanet:1865 MONDO MedGen:C0036391 Orphanet:800	HSPG2	Germline		NC_000001.10:g.22191454G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA672251 Uniprotkb:P98160#VAR 047983	897471	Single Nucleotide Variant	0.74631	0.69914	0.69149	275473
1	22199245	rs2229482 - 285755	C/T	Benign	Not Specified Not Provided Lethal Kniest-Like Syndrome Schwartz-Jampel Syndrome	SNV	synonymous_variant	MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C1857100 OMIM:224410 Orphanet:1865 MONDO MedGen:C0036391 Orphanet:800	HSPG2	Germline		NC_000001.10:g.22199245C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA672421	2229482	Single Nucleotide Variant	0.60665	0.52469	0.42492	269992
1	22199821	rs2454290 - 1235752	A/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	HSPG2	Germline		NC_000001.10:g.22199821G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1226131
1	22206649	rs989994 - 295881	C/C	Benign	Not Provided Lethal Kniest-Like Syndrome Schwartz-Jampel Syndrome	SNV	missense_variant	MedGen:CN517202 MONDO MedGen:C1857100 OMIM:224410 Orphanet:1865 MONDO MedGen:C0036391 Orphanet:800	HSPG2	Germline		NC_000001.10:g.22206649T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA673121 Uniprotkb:P98160#VAR 047981	989994	Single Nucleotide Variant		0.93518	0.92991	280764
1	22207235	rs1874792 - 295887	C/C	Benign	Not Provided Lethal Kniest-Like Syndrome Schwartz-Jampel Syndrome	SNV	missense_variant	MedGen:CN517202 MONDO MedGen:C1857100 OMIM:224410 Orphanet:1865 MONDO MedGen:C0036391 Orphanet:800	HSPG2	Germline		NC_000001.10:g.22207235T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA673246 Uniprotkb:P98160#VAR 047980	1874792	Single Nucleotide Variant	0.99312	0.97566	0.97364	279454
1	22216279	rs3767141 - 1293470	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	HSPG2	Germline		NC_000001.10:g.22216279C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1283275
1	22216574	rs2254358 - 295910	C/A	Benign	Schwartz-Jampel Syndrome Lethal Kniest-Like Syndrome Not Provided	SNV	synonymous_variant	MONDO MedGen:C0036391 Orphanet:800 MONDO MedGen:C1857100 OMIM:224410 Orphanet:1865 MedGen:CN517202	HSPG2	Germline		NC_000001.10:g.22216574C>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA673865	2254358	Single Nucleotide Variant	0.57694	0.55029	0.44449	280779
1	22835677	rs209729 - 1260804	G/A	Benign	Not Provided	SNV	missense_variant	MedGen:CN517202	ZBTB40	Germline		NC_000001.10:g.22835677A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1253292
1	24022437	rs2280437 - 1265306	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	RPL11	Germline		NC_000001.10:g.24022437A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1254774
1	24128467	rs11714 - 296841	T/C	Benign	Udpglucose-4-Epimerase Deficiency Deficiency Of Hydroxymethylglutaryl-Coa Lyase	SNV	3_prime_UTR_variant	MONDO MedGen:C0751161 OMIM:230350 Orphanet:352 Orphanet:79238 MONDO MedGen:C0268601 OMIM:246450 Orphanet:20	GALE	Germline		NC_000001.10:g.24128467C>T	Criteria Provided Single Submitter	Clingen:CA10610698	11714	Single Nucleotide Variant			0.88339	281738
1	24129126	rs2076343 - 1177625	A/G	Benign	Deficiency Of Hydroxymethylglutaryl-Coa Lyase	SNV	intron_variant	MONDO MedGen:C0268601 OMIM:246450 Orphanet:20	HMGCL	Germline		NC_000001.10:g.24129126A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1167084
1	24134721	rs719400 - 92602	C/T	Benign	Not Specified Deficiency Of Hydroxymethylglutaryl-Coa Lyase	SNV	synonymous_variant	MedGen:CN169374 MONDO MedGen:C0268601 OMIM:246450 Orphanet:20	HMGCL	Germline		NC_000001.10:g.24134721T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA285335	719400	Single Nucleotide Variant	0.90420	0.92627	0.88738	98510
1	24151996	rs6697805 - 1177626	A/A	Benign	Not Provided Deficiency Of Hydroxymethylglutaryl-Coa Lyase	SNV		MedGen:CN517202 MONDO MedGen:C0268601 OMIM:246450 Orphanet:20	HMGCL	Germline		NC_000001.10:g.24151996C>A	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1167085
1	24180962	rs13551 - 691	T/C	Benign	Not Provided Fucosidosis FU1/FU2 POLYMORPHISM	SNV	missense_variant	MedGen:CN517202 MONDO MedGen:C0016788 OMIM:230000 Orphanet:349 .	FUCA1	Germline		NC_000001.10:g.24180962T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA114444 OMIM:612280.0011 Uniprotkb:P04066#VAR 002444	13551	Single Nucleotide Variant	0.27912		0.21126	15730
1	24191720	rs34570472 - 683986	A/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	FUCA1	Germline		NC_000001.10:g.24191720A>G	Criteria Provided Single Submitter		34570472	Single Nucleotide Variant			0.21206	657770
1	24668842	rs4648974 - 1253198	C/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	GRHL3	Germline		NC_000001.10:g.24668842T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1243141
1	24673866	rs6691722 - 1234415	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	GRHL3	Germline		NC_000001.10:g.24673866A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1224819
1	25889632	rs6687605 - 296982	C/C	Benign	Cardiovascular Phenotype Not Specified Familial Hypercholesterolemia Hypercholesterolemia Familial 4	SNV	missense_variant	MedGen:CN230736 MedGen:CN169374 MONDO MedGen:C0020445 OMIM:PS143890 MONDO MedGen:C1863512 OMIM:603813 Orphanet:391665	LDLRAP1	Germline		NC_000001.10:g.25889632T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA695643 Uniprotkb:Q5SW96#VAR 028403	6687605	Single Nucleotide Variant		0.46931	0.43490	280227
1	25889672	rs6688931 - 1180487	A/A	Benign	Hypercholesterolemia Familial 4	SNV	intron_variant	MONDO MedGen:C1863512 OMIM:603813 Orphanet:391665	LDLRAP1	Germline		NC_000001.10:g.25889672G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1170005
1	25890189	rs28969504 - 296984	G/G	Benign	Not Specified Hypercholesterolemia Familial 4 Cardiovascular Phenotype Familial Hypercholesterolemia	SNV	synonymous_variant	MedGen:CN169374 MONDO MedGen:C1863512 OMIM:603813 Orphanet:391665 MedGen:CN230736 MONDO MedGen:C0020445 OMIM:PS143890	LDLRAP1	Germline		NC_000001.10:g.25890189A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA695686	28969504	Single Nucleotide Variant	0.55151	0.63217	0.58626	280604
1	26131654	rs7349185 - 95963	A/A	Benign	SEPN1-Related Disorders Not Specified Not Provided Eichsfeld Type Congenital Muscular Dystrophy	SNV	missense_variant	MedGen:CN239420 MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C0410180 OMIM:602771	SELENON	Germline		NC_000001.10:g.26131654G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA149076 Uniprotkb:Q9NZV5#VAR 038846	7349185	Single Nucleotide Variant	0.81443		0.84185	101859
1	26138136	rs760598 - 261271	A/A	Benign	Eichsfeld Type Congenital Muscular Dystrophy Not Provided Not Specified	SNV	intron_variant	MONDO MedGen:C0410180 OMIM:602771 MedGen:CN517202 MedGen:CN169374	SELENON	Germline		NC_000001.10:g.26138136C>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA696754	760598	Single Nucleotide Variant	0.78613	0.68480	0.74701	249869
1	26138262	rs760597 - 95956	C/C	Benign	SEPN1-Related Disorders Not Specified Not Provided Eichsfeld Type Congenital Muscular Dystrophy	SNV	synonymous_variant	MedGen:CN239420 MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C0410180 OMIM:602771	SELENON	Germline		NC_000001.10:g.26138262T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA149072	760597	Single Nucleotide Variant	0.81325	0.73717	0.79193	101852
1	26140573	rs2294228 - 95959	A/A	Benign	SEPN1-Related Disorders Not Specified Not Provided Eichsfeld Type Congenital Muscular Dystrophy	SNV	missense_variant	MedGen:CN239420 MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C0410180 OMIM:602771	SELENON	Germline		NC_000001.10:g.26140573C>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA149074 Uniprotkb:Q9NZV5#VAR 038847	2294228	Single Nucleotide Variant	0.77473	0.63195	0.69748	101855
1	26144674	rs6872 - 297066	G/A	Benign	SEPN1-Related Disorders	SNV	3_prime_UTR_variant	MedGen:CN239420	SELENON	Germline		NC_000001.10:g.26144674G>A	Criteria Provided Single Submitter	Clingen:CA10610907	6872	Single Nucleotide Variant			0.16294	282088
1	26383875	rs2275947 - 1267089	A/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	TRIM63	Germline		NC_000001.10:g.26383875A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1254412
1	26384690	rs1317709 - 1226300	T/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	TRIM63	Germline		NC_000001.10:g.26384690T>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1217554
1	26385003	rs2275950 - 1240550	T/C	Benign/Likely Benign	Not Specified Not Provided	SNV	missense_variant	MedGen:CN169374 MedGen:CN517202	TRIM63	Germline		NC_000001.10:g.26385003T>C	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1231373
1	26387423	rs2997447 - 1180375	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	TRIM63	Germline		NC_000001.10:g.26387423G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1168830
1	26671248	rs57268417 - 1272380	A/G	Benign	Not Provided	SNV	missense_variant	MedGen:CN517202	CRYBG2	Germline		NC_000001.10:g.26671248A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1263136
1	26759149	rs3811461 - 1257348	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	DHDDS	Germline		NC_000001.10:g.26759149A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1246844
1	26786627	rs3816539 - 297075	A/A	Benign	Not Provided Retinitis Pigmentosa 59 Retinitis Pigmentosa Developmental Delay And Seizures With Or Without Movement Abnormalities	SNV	missense_variant	MedGen:CN517202 MONDO MedGen:C3151227 OMIM:613861 Orphanet:791 Human_Phenotype_Ontology:HP:0000547 MONDO MeSH:D012174 MedGen:C0035334 OMIM:268000 OMIM:PS268000 Orphanet:791 MONDO MedGen:C4693376 OMIM:617836	DHDDS	Germline		NC_000001.10:g.26786627G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA705442 Uniprotkb:Q86SQ9#VAR 028088	3816539	Single Nucleotide Variant	0.31330	0.28748	0.45527	280332
1	27875824	rs4908364 - 1167798	T/T	Benign	Not Provided AHDC1-Related Intellectual Disability - Obstructive Sleep Apnea - Mild Dysmorphism Syndrome	SNV	missense_variant	MedGen:CN517202 MONDO MedGen:C4014419 OMIM:615829 Orphanet:412069	AHDC1	Germline		NC_000001.10:g.27875824C>T	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1153560
1	27876482	rs2076457 - 1167799	A/A	Benign	Not Provided AHDC1-Related Intellectual Disability - Obstructive Sleep Apnea - Mild Dysmorphism Syndrome	SNV	synonymous_variant	MedGen:CN517202 MONDO MedGen:C4014419 OMIM:615829 Orphanet:412069	AHDC1	Germline		NC_000001.10:g.27876482C>A	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1153561
1	29345027	rs2985334 - 1264148	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	EPB41	Germline		NC_000001.10:g.29345027T>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1254046
1	31349647	rs2491132 - 12756	T/T	Association	Obesity Association With	SNV	missense_variant	MedGen:C4016383	SDC3	Germline		NC_000001.10:g.31349647C>T	No Assertion Criteria Provided	Clingen:CA122690 OMIM:186357.0002 Uniprotkb:O75056#VAR 027251	2491132	Single Nucleotide Variant	0.15993		0.07628	27795
1	31424889	rs6672383 - 1238402	A/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	PUM1	Germline		NC_000001.10:g.31424889G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1227532
1	31426815	rs2275741 - 1288095	G/G	Benign	Not Provided Spinocerebellar Ataxia 47	SNV	synonymous_variant	MedGen:CN517202 MONDO MedGen:C4693672 OMIM:617931	PUM1	Germline		NC_000001.10:g.31426815A>G	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1277927
1	32165495	rs2228552 - 1288039	T/T	Benign	Not Provided	SNV	missense_variant	MedGen:CN517202	COL16A1	Germline		NC_000001.10:g.32165495G>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1277871
1	33256884	rs1765223 - 670888	A/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	YARS1	Germline		NC_000001.10:g.33256884C>A	Criteria Provided Single Submitter		1765223	Single Nucleotide Variant	0.30817	0.30770	0.29113	657841
1	33358865	rs946026 - 1269560	T/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	HPCA	Germline		NC_000001.10:g.33358865C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1259419
1	35227466	rs3738346 - 195419	A/C	Benign	Not Specified Not Provided	SNV	missense_variant	MedGen:CN169374 MedGen:CN517202	GJB4	Germline		NC_000001.10:g.35227466A>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA201727 Uniprotkb:Q9NTQ9#VAR 015092	3738346	Single Nucleotide Variant	0.03974	0.06658	0.10843	192580
1	36565362	rs6693322 - 1249796	C/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	COL8A2	Germline		NC_000001.10:g.36565362T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1241421
1	36565617	rs274754 - 1255398	A/A	Benign	Not Provided Corneal Dystrophy Fuchs Endothelial 1 Posterior Polymorphous Corneal Dystrophy 2	SNV	intron_variant	MedGen:CN517202 MONDO MedGen:C1850959 OMIM:136800 Orphanet:98974 MONDO MedGen:C1852795 OMIM:609140 Orphanet:98973	COL8A2	Germline		NC_000001.10:g.36565617G>A	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1245330
1	36602943	rs2231318 - 1601300	T/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	TRAPPC3	Germline		NC_000001.10:g.36602943C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1610505
1	36935128	rs3917989 - 1233231	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	CSF3R	Germline		NC_000001.10:g.36935128G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1222353
1	36937059	rs3917981 - 256790	G/A	Benign	Not Specified Autosomal Recessive Severe Congenital Neutropenia Due To CSF3R Deficiency	SNV	synonymous_variant	MedGen:CN169374 MONDO MedGen:C4310764 OMIM:617014 Orphanet:420702	CSF3R	Germline		NC_000001.10:g.36937059A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA769248	3917981	Single Nucleotide Variant	0.56481	0.60857	0.59245	249885
1	36937065	rs3917980 - 256789	A/G	Benign	Autosomal Recessive Severe Congenital Neutropenia Due To CSF3R Deficiency Not Specified	SNV	synonymous_variant	MONDO MedGen:C4310764 OMIM:617014 Orphanet:420702 MedGen:CN169374	CSF3R	Germline		NC_000001.10:g.36937065A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA769250	3917980	Single Nucleotide Variant	0.31561	0.29971	0.24641	249886
1	38019747	rs2273013 - 1170158	C/T	Benign	Not Provided Psychomotor Retardation Epilepsy And Craniofacial Dysmorphism	SNV	synonymous_variant	MedGen:CN517202 MONDO MedGen:C3281055 OMIM:614501	SNIP1	Germline		NC_000001.10:g.38019747C>T	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1153572
1	38078300	rs4652964 - 1276443	G/A	Benign	Not Provided	SNV	3_prime_UTR_variant	MedGen:CN517202	RSPO1	Germline		NC_000001.10:g.38078300A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1267611
1	38095960	rs4511080 - 1266883	C/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	RSPO1	Germline		NC_000001.10:g.38095960C>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1255918
1	38272660	rs2291297 - 1970918	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	YRDC	Germline		NC_000001.10:g.38272660G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				2025758
1	38338795	rs11488569 - 1258444	G/A	Benign	Not Provided	SNV	SO:0001583 missense_variantSO:0001619 non-coding_transcript_variant	MedGen:CN517202	INPP5B	Germline		NC_000001.10:g.38338795A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1247938
1	38397369	rs35267671 - 1249962	T/T	Benign	Not Provided	SNV	SO:0001583 missense_variantSO:0001619 non-coding_transcript_variantSO:0001623 5_prime_UTR_variantSO:0001627 intron_variant	MedGen:CN517202	INPP5B	Germline		NC_000001.10:g.38397369C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1240337
1	38411350	rs11485595 - 1277053	T/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	INPP5B	Germline		NC_000001.10:g.38411350C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1266922
1	39549983	rs3736890 - 1258911	G/A	Benign	Not Provided	SNV	synonymous_variant	MedGen:CN517202	MACF1	Germline		NC_000001.10:g.39549983G>A	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1247122
1	39748921	rs2275188 - 1264063	A/A	Benign	Lissencephaly 9 With Complex Brainstem Malformation Not Provided	SNV	synonymous_variant	MONDO MedGen:C5193029 OMIM:618325 Orphanet:572013 MedGen:CN517202	MACF1	Germline		NC_000001.10:g.39748921G>A	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1253961
1	39758955	rs2484749 - 1239866	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	MACF1	Germline		NC_000001.10:g.39758955A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1228988
1	39763242	rs2275187 - 1242509	A/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	MACF1	Germline		NC_000001.10:g.39763242G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1232051
1	39894839	rs645061 - 1272325	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	MACF1	Germline		NC_000001.10:g.39894839A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1263081
1	39914363	rs668556 - 1277352	G/C	Benign	Lissencephaly 9 With Complex Brainstem Malformation Not Provided	SNV	missense_variant	MONDO MedGen:C5193029 OMIM:618325 Orphanet:572013 MedGen:CN517202	MACF1	Germline		NC_000001.10:g.39914363G>C	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1265932
1	39919234	rs687848 - 1291665	A/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	MACF1	Germline		NC_000001.10:g.39919234A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1281479
1	39929240	rs7554206 - 1286135	C/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	MACF1	Germline		NC_000001.10:g.39929240T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1275974
1	39945297	rs2275767 - 1268975	T/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	MACF1	Germline		NC_000001.10:g.39945297C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1261406
1	40433771	rs3103778 - 1226321	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	MFSD2A	Germline		NC_000001.10:g.40433771A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1217575
1	40539076	rs1126973 - 297230	T/C	Benign	Neuronal Ceroid Lipofuscinosis 1 Not Provided	SNV	3_prime_UTR_variant	MONDO MedGen:C1850451 OMIM:256730 Orphanet:228329 MedGen:CN517202	PPT1	Germline		NC_000001.10:g.40539076C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA10609885	1126973	Single Nucleotide Variant			0.66733	280445
1	40722795	rs926830 - 140502	A/A	Not Provided	Not Provided	SNV		MedGen:CN517202	ZMPSTE24	Germline		NC_000001.10:g.40722795G>A	No Assertion Provided	Clingen:CA232709	926830	Single Nucleotide Variant			0.21805	150180
1	40733658	rs7516571 - 140525	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ZMPSTE24	Germline		NC_000001.10:g.40733658A>G	Criteria Provided Single Submitter	Clingen:CA232747	7516571	Single Nucleotide Variant			0.22264	150203
1	40741899	rs6676644 - 140538	T/T	Not Provided	Not Provided	SNV	intron_variant	MedGen:CN517202	ZMPSTE24	Germline		NC_000001.10:g.40741899C>T	No Assertion Provided	Clingen:CA232763	6676644	Single Nucleotide Variant			0.91354	150216
1	40757993	rs6664294 - 1260900	C/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ZMPSTE24	Germline		NC_000001.10:g.40757993T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1253388
1	40773149	i6061493 - 258399	T/C	Benign	Not Specified Not Provided Epiphyseal Dysplasia Multiple 2	SNV	missense_variant	MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C1838429 OMIM:600204	COL9A2	Germline		NC_000001.10:g.40773149T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA791645 Uniprotkb:Q14055#VAR 012659	2228564	Single Nucleotide Variant	0.30335	0.27810	0.39736	249913
1	40774194	rs364281 - 683426	C/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	COL9A2	Germline		NC_000001.10:g.40774194A>C	Criteria Provided Single Submitter		364281	Single Nucleotide Variant			0.82568	657914
1	40980731	rs11208299 - 1252459	G/T	Benign	Not Provided	SNV	missense_variant	MedGen:CN517202	EXO5	Germline		NC_000001.10:g.40980731G>T	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1242405
1	41285087	rs4660468 - 45105	C/T	Benign	Not Provided Not Specified Autosomal Dominant Nonsyndromic Hearing Loss 2A	SNV	synonymous_variant	MedGen:CN517202 MedGen:CN169374 MONDO MedGen:C2677637 OMIM:600101 Orphanet:90635	KCNQ4	Germline		NC_000001.10:g.41285087T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA135535	4660468	Single Nucleotide Variant	0.65118	0.67630	0.56330	54272
1	41289993	rs3767940 - 1245275	T/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	KCNQ4	Germline		NC_000001.10:g.41289993T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1235228
1	41296828	rs34287852 - 45101	T/G	Benign	Not Specified Not Provided Autosomal Dominant Nonsyndromic Hearing Loss 2A	SNV	missense_variant	MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C2677637 OMIM:600101 Orphanet:90635	KCNQ4	Germline		NC_000001.10:g.41296828T>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA135528 Uniprotkb:P56696#VAR 058971	34287852	Single Nucleotide Variant	0.20284	0.17513	0.09405	54268
1	41298652	rs913378 - 1266980	C/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	KCNQ4	Germline		NC_000001.10:g.41298652T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1254303
1	41301034	rs727334 - 1265651	C/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	KCNQ4	Germline		NC_000001.10:g.41301034G>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1257276
1	42049032	rs2984694 - 402946	A/A	Benign	Not Specified	SNV	synonymous_variant	MedGen:CN169374	HIVEP3	Germline		NC_000001.10:g.42049032G>A	Criteria Provided Single Submitter	Clingen:CA798251	2984694	Single Nucleotide Variant	0.98681	0.95494	0.94928	389449
1	43200526	rs912075 - 297335	C/T	Benign	Not Provided Renal Hypomagnesemia 5 With Ocular Involvement	SNV	3_prime_UTR_variant	MedGen:CN517202 MONDO MedGen:C4721891 OMIM:248190 Orphanet:2196	CLDN19	Germline		NC_000001.10:g.43200526T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA10609942	912075	Single Nucleotide Variant			0.60683	280544
1	43200855	rs74885359 - 1276324	G/A	Benign	Not Provided	SNV	SO:0001624 3_prime_UTR_variantSO:0001627 intron_variant	MedGen:CN517202	CLDN19	Germline		NC_000001.10:g.43200855G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1267492
1	43201216	rs12141833 - 1287286	C/A	Benign	Not Provided	SNV	SO:0001624 3_prime_UTR_variantSO:0001627 intron_variant	MedGen:CN517202	CLDN19	Germline		NC_000001.10:g.43201216A>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1277119
1	43212111	rs6882 - 873598	T/C	Benign	Not Provided Osteogenesis Imperfecta Recessive Osteogenesis Imperfecta Type 8	SNV	3_prime_UTR_variant	MedGen:CN517202 MedGen:CN239451 MONDO MedGen:C1970458 OMIM:610915	P3H1	Germline		NC_000001.10:g.43212111C>T	Criteria Provided Multiple Submitters No Conflicts		6882	Single Nucleotide Variant			0.66254	864415
1	43213610	rs7552138 - 667664	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	P3H1	Germline		NC_000001.10:g.43213610T>C	Criteria Provided Single Submitter		7552138	Single Nucleotide Variant			0.75200	657900
1	43215571	rs1018572 - 667663	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	P3H1	Germline		NC_000001.10:g.43215571A>G	Criteria Provided Single Submitter		1018572	Single Nucleotide Variant			0.99341	657995
1	43409179	rs12718444 - 670109	G/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	SLC2A1	Germline		NC_000001.10:g.43409179G>T	Criteria Provided Single Submitter		12718444	Single Nucleotide Variant			0.15336	657948
1	43812075	rs1760670 - 259760	A/A	Benign	Not Specified Not Provided	SNV	intron_variant	MedGen:CN169374 MedGen:CN517202	MPL	Germline		NC_000001.10:g.43812075G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA806801	1760670	Single Nucleotide Variant	0.30320	0.32908	0.20967	249934
1	43855546	rs839752 - 1295755	G/G	Benign	Not Provided	SNV		MedGen:CN517202	SZT2	Germline		NC_000001.10:g.43855546A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1285550
1	43886321	rs2782642 - 1256943	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	SZT2	Germline		NC_000001.10:g.43886321A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1247726
1	43886494	rs2782643 - 260613	T/T	Benign	Not Specified Not Provided Inborn Genetic Diseases Developmental And Epileptic Encephalopathy 18	SNV	missense_variant	MedGen:CN169374 MedGen:CN517202 MeSH:D030342 MedGen:C0950123 MONDO MedGen:C3809624 OMIM:615476 Orphanet:369894	SZT2	Germline		NC_000001.10:g.43886494C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA808398	2782643	Single Nucleotide Variant	0.31911	0.33886	0.19808	249939
1	43887146	rs2782644 - 1295761	A/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	SZT2	Germline		NC_000001.10:g.43887146G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1285556
1	43888602	rs2782645 - 1295760	A/A	Benign	Developmental And Epileptic Encephalopathy 18 Not Provided	SNV	intron_variant	MONDO MedGen:C3809624 OMIM:615476 Orphanet:369894 MedGen:CN517202	SZT2	Germline		NC_000001.10:g.43888602G>A	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1285555
1	43903695	rs2842182 - 1295762	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	SZT2	Germline		NC_000001.10:g.43903695A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1285557
1	43909265	rs2255632 - 260626	C/C	Benign	Not Provided Not Specified Inborn Genetic Diseases	SNV	intron_variant	MedGen:CN517202 MedGen:CN169374 MeSH:D030342 MedGen:C0950123	SZT2	Germline		NC_000001.10:g.43909265T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA810636	2255632	Single Nucleotide Variant	0.33096	0.33116	0.22105	249952
1	43912590	rs2782650 - 1179381	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	SZT2	Germline		NC_000001.10:g.43912590A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1168837
1	44058265	rs3828151 - 1304919	C/A	Benign	Not Provided	SNV	synonymous_variant	MedGen:CN517202	PTPRF	Germline		NC_000001.10:g.44058265C>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1295194
1	44258040	rs1502907 - 1236159	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ST3GAL3	Germline		NC_000001.10:g.44258040A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1225279
1	44280425	rs3791064 - 1229033	T/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ST3GAL3	Germline		NC_000001.10:g.44280425T>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1221585
1	44290530	rs37458 - 130378	A/G	Benign	Not Provided Not Specified	SNV	SO:0001583 missense_variantSO:0001627 intron_variant	MedGen:CN517202 MedGen:CN169374	ST3GAL3	Germline		NC_000001.10:g.44290530A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA155296	37458	Single Nucleotide Variant	0.34764	0.33529	0.23642	135825
1	44365457	rs783304 - 1233138	A/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ST3GAL3	Germline		NC_000001.10:g.44365457A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1223549
1	44386615	rs3120803 - 262909	G/G	Benign	Early Infantile Epileptic Encephalopathy With Suppression Bursts Intellectual Disability Autosomal Recessive 12 Not Specified Developmental And Epileptic Encephalopathy 15	SNV	intron_variant	MONDO MedGen:C0393706 OMIM:PS308350 Orphanet:1934 MONDO MedGen:C1970200 OMIM:611090 Orphanet:88616 MedGen:CN169374 MONDO MedGen:C3554316 OMIM:615006 Orphanet:3451	ST3GAL3	Germline		NC_000001.10:g.44386615A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA814869	3120803	Single Nucleotide Variant	0.88129	0.85043	0.80911	249955
1	44395786	rs2108202 - 262910	T/C	Benign	Early Infantile Epileptic Encephalopathy With Suppression Bursts Not Specified Intellectual Disability Autosomal Recessive 12 Developmental And Epileptic Encephalopathy 15	SNV	intron_variant	MONDO MedGen:C0393706 OMIM:PS308350 Orphanet:1934 MedGen:CN169374 MONDO MedGen:C1970200 OMIM:611090 Orphanet:88616 MONDO MedGen:C3554316 OMIM:615006 Orphanet:3451	ST3GAL3	Germline		NC_000001.10:g.44395786C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA814904	2108202	Single Nucleotide Variant	0.66838	0.59588	0.51877	249956
1	44463204	rs2286245 - 1240974	C/T	Benign	Not Provided	SNV	SO:0001619 non-coding_transcript_variantSO:0001624 3_prime_UTR_variant	MedGen:CN517202	SLC6A9	Germline		NC_000001.10:g.44463204C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1230512
1	44475987	rs2486001 - 1294943	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	SLC6A9	Germline		NC_000001.10:g.44475987T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1284739
1	45292866	rs2295996 - 1166504	G/A	Benign	Not Provided Inborn Genetic Diseases Gorlin Syndrome	SNV	synonymous_variant	MedGen:CN517202 MeSH:D030342 MedGen:C0950123 MONDO MedGen:C0004779 OMIM:109400 Orphanet:377	PTCH2	Germline		NC_000001.10:g.45292866G>A	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1153593
1	45293518	rs7525308 - 1166505	A/G	Benign	Gorlin Syndrome Not Provided Inborn Genetic Diseases	SNV	synonymous_variant	MONDO MedGen:C0004779 OMIM:109400 Orphanet:377 MedGen:CN517202 MeSH:D030342 MedGen:C0950123	PTCH2	Germline		NC_000001.10:g.45293518A>G	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1153595
1	45307506	rs3795720 - 1327457	G/A	Benign	Gorlin Syndrome	SNV	intron_variant	MONDO MedGen:C0004779 OMIM:109400 Orphanet:377	PTCH2	Germline		NC_000001.10:g.45307506G>A	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1317969
1	45340703	rs263955 - 1232545	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	EIF2B3	Germline		NC_000001.10:g.45340703T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1224252
1	45362992	rs263978 - 261222	C/T	Benign	Not Specified Not Provided	SNV	intron_variant	MedGen:CN169374 MedGen:CN517202	EIF2B3	Germline		NC_000001.10:g.45362992T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA823955	263978	Single Nucleotide Variant	0.65886	0.66108	0.79113	249960
1	45452227	rs489676 - 297453	G/C	Benign	Vanishing White Matter Disease	SNV	5_prime_UTR_variant	MONDO MedGen:C1858991 OMIM:603896 Orphanet:135 Orphanet:99853	EIF2B3	Germline		NC_000001.10:g.45452227G>C	Criteria Provided Single Submitter	Clingen:CA10610321	489676	Single Nucleotide Variant			0.48063	281149
1	45798555	rs3219487 - 257529	C/C	Benign	Not Provided Not Specified	SNV	intron_variant	MedGen:CN517202 MedGen:CN169374	MUTYH	Germline		NC_000001.10:g.45798555T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA058032	3219487	Single Nucleotide Variant	0.92551	0.93026	0.93710	249965
1	45973928	rs2275276 - 95702	A/A	Benign	Disorders Of Intracellular Cobalamin Metabolism Not Specified Not Provided Cobalamin C Disease	SNV	synonymous_variant	MedGen:CN043592 MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C1848561 OMIM:277400 Orphanet:26 Orphanet:79282	MMACHC	Germline		NC_000001.10:g.45973928G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA285689	2275276	Single Nucleotide Variant	0.46635	0.41619	0.47524	101599
1	45976147	rs882803 - 297522	A/A	Benign	Disorders Of Intracellular Cobalamin Metabolism	SNV	3_prime_UTR_variant	MedGen:CN043592	MMACHC	Germline		NC_000001.10:g.45976147G>A	Criteria Provided Single Submitter	Clingen:CA10610059	882803	Single Nucleotide Variant			0.74381	280740
1	45981512	rs2356559 - 1242857	C/C	Benign	Cobalamin C Disease Not Provided	SNV	intron_variant	MONDO MedGen:C1848561 OMIM:277400 Orphanet:26 Orphanet:79282 MedGen:CN517202	PRDX1	Germline		NC_000001.10:g.45981512T>C	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1231112
1	46655158	rs6659553 - 167524	C/C	Benign	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2O Muscular Dystrophy-Dystroglycanopathy (Congenital With Intellectual Disability) Type B3 Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies) Type A3 Retinitis Pigmentosa 76 Muscle Eye Brain Disease Not Specified	SNV	missense_variant	MONDO MedGen:C3150417 OMIM:613157 Orphanet:206564 MONDO MedGen:C3150412 OMIM:613151 MONDO MedGen:C3151519 OMIM:253280 MONDO MedGen:C4310704 OMIM:617123 MONDO MedGen:C0457133 Orphanet:588 Orphanet:899 MedGen:CN169374	TSPAN1	Germline		NC_000001.10:g.46655158T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA180336	6659553	Single Nucleotide Variant	0.98384	0.94126	0.94249	177974
1	46655645	rs74374973 - 3997	C/T	Conflicting Interpretations Of Pathogenicity	Congenital Muscular Dystrophy Alpha-Dystroglycan Related Muscular Dystrophy-Dystroglycanopathy (Congenital With Intellectual Disability) Type B3 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2O Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies) Type A3 Retinitis Pigmentosa 76 Not Provided Not Specified Muscle Eye Brain Disease	SNV	missense_variant	MedGen:CN239202 MONDO MedGen:C3150412 OMIM:613151 MONDO MedGen:C3150417 OMIM:613157 Orphanet:206564 MONDO MedGen:C3151519 OMIM:253280 MONDO MedGen:C4310704 OMIM:617123 MedGen:CN517202 MedGen:CN169374 MONDO MedGen:C0457133 Orphanet:588 Orphanet:899	TSPAN1	Germline		NC_000001.10:g.46655645C>T	Criteria Provided Conflicting Interpretations	Clingen:CA116557 OMIM:606822.0013 Uniprotkb:Q8WZA1#VAR 065025	74374973	Single Nucleotide Variant	0.00912	0.00861	0.00519	19036			Uncertain_significance(3)\|Benign(5)\|Likely_benign(8)
1	46658910	rs2292486 - 260870	G/A	Benign	Not Specified Not Provided Retinitis Pigmentosa 76 Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies) Type A3	SNV	intron_variant	MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C4310704 OMIM:617123 MONDO MedGen:C3151519 OMIM:253280	TSPAN1	Germline		NC_000001.10:g.46658910G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA833490	2292486	Single Nucleotide Variant	0.07014	0.01784	0.12859	249971
1	46743900	rs1048771 - 1678943	C/T	Benign	Inborn Genetic Diseases Hereditary Breast Ovarian Cancer Syndrome	SNV	SO:0001624 3_prime_UTR_variantSO:0001819 synonymous_variant	MeSH:D030342 MedGen:C0950123 MONDO MeSH:D061325 MedGen:C0677776 OMIM:PS604370 Orphanet:145	RAD54L	Germline		NC_000001.10:g.46743900C>T	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1670737
1	47571391	rs6690005 - 1693612	A/A	Association	Pulmonary Disease Chronic Obstructive Susceptibility To	SNV	intron_variant	MONDO MedGen:C3838076	CYP4Z1	Germline		NC_000001.10:g.47571391G>A	No Assertion Criteria Provided			Single Nucleotide Variant				1686048
1	47609489	rs10789501 - 1693611	C/C	Association	Pulmonary Disease Chronic Obstructive Susceptibility To	SNV	SO:0001583 missense_variantSO:0001627 intron_variant	MONDO MedGen:C3838076	CYP4A22	Germline		NC_000001.10:g.47609489T>C	No Assertion Criteria Provided			Single Nucleotide Variant				1686047
1	47883024	rs2820969 - 1237144	G/G	Benign	Not Provided	SNV	3_prime_UTR_variant	MedGen:CN517202	FOXE3	Germline		NC_000001.10:g.47883024A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1226268
1	52851729	rs78572338 - 1280300	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ORC1	Germline		NC_000001.10:g.52851729G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1270164
1	53153432	rs443751 - 1287335	T/C	Benign	Not Provided	SNV	missense_variant	MedGen:CN517202	COA7	Germline		NC_000001.10:g.53153432T>C	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1277168
1	53164220	rs375945 - 1258438	T/T	Benign	Not Provided	SNV		MedGen:CN517202	COA7	Germline		NC_000001.10:g.53164220C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1247932
1	53513437	rs1288362 - 1290761	T/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	SCP2	Germline		NC_000001.10:g.53513437T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1280589
1	53558270	rs1288406 - 1235045	G/G	Benign	Not Provided	SNV	SO:0001619 non-coding_transcript_variantSO:0001819 synonymous_variant	MedGen:CN517202	SLC1A7	Germline		NC_000001.10:g.53558270A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1222875
1	55076430	rs733035 - 1254334	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ACOT11	Germline		NC_000001.10:g.55076430A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1244269
1	55319902	rs718265 - 297654	G/G	Benign	Not Provided Desmosterolosis	SNV	synonymous_variant	MedGen:CN517202 MONDO MedGen:C1865596 OMIM:602398 Orphanet:35107	DHCR24	Germline		NC_000001.10:g.55319902A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA870645	718265	Single Nucleotide Variant	0.66506	0.66615	0.62760	281388
1	55341915	rs638944 - 1260254	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	DHCR24	Germline		NC_000001.10:g.55341915T>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1248464
1	55464320	rs1003767 - 1245937	T/T	Benign	Not Provided	SNV		MedGen:CN517202	BSND	Germline		NC_000001.10:g.55464320C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1234606
1	55464743	rs2500340 - 297673	C/C	Benign	Not Provided Bartter Disease Type 4A	SNV	5_prime_UTR_variant	MedGen:CN517202 MONDO MedGen:C1865270 OMIM:602522 Orphanet:112	BSND	Germline		NC_000001.10:g.55464743T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA10610155	2500340	Single Nucleotide Variant			0.59405	280880
1	55472365	rs4927186 - 1276879	A/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	BSND	Germline		NC_000001.10:g.55472365G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1266749
1	55473043	rs6687801 - 1221679	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	BSND	Germline		NC_000001.10:g.55473043G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1210791
1	55474262	rs33938617 - 46553	G/A	Benign	Bartter Syndrome Not Specified Not Provided Bartter Disease Type 4A	SNV	synonymous_variant	MONDO MedGen:C0004775 OMIM:PS601678 Orphanet:112 MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C1865270 OMIM:602522 Orphanet:112	BSND	Germline		NC_000001.10:g.55474262G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA138610	33938617	Single Nucleotide Variant	0.15861	0.19968	0.11601	55718
1	55474325	rs6682884 - 297681	C/C	Benign	Not Provided Bartter Disease Type 4A	SNV	3_prime_UTR_variant	MedGen:CN517202 MONDO MedGen:C1865270 OMIM:602522 Orphanet:112	BSND	Germline		NC_000001.10:g.55474325A>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA871455	6682884	Single Nucleotide Variant		0.44649	0.36242	282935
1	55504650	rs2479409 - 440703	A/G	Benign	Hypercholesterolemia Familial 1	SNV		MONDO MedGen:C0745103 OMIM:143890 Orphanet:391665	PCSK9	Germline		NC_000001.10:g.55504650G>A	Criteria Provided Single Submitter	Clingen:CA15077767	2479409	Single Nucleotide Variant			0.60144	434132
1	55505732	rs2495482 - 262904	G/G	Benign	Hypobetalipoproteinemia Familial Hypercholesterolemia Not Specified Not Provided Hypercholesterolemia Autosomal Dominant 3 Hypercholesterolemia Familial 1	SNV	intron_variant	MONDO MedGen:C0020597 Orphanet:31154 MONDO MedGen:C0020445 OMIM:PS143890 MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C1863551 OMIM:603776 MONDO MedGen:C0745103 OMIM:143890 Orphanet:391665	PCSK9	Germline		NC_000001.10:g.55505732A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA040544	2495482	Single Nucleotide Variant	0.93699	0.91164	0.90855	249984
1	55518316	rs2483205 - 36672	C/T	Benign	Hypobetalipoproteinemia Familial Hypercholesterolemia Not Specified Not Provided Hypercholesterolemia Familial 1 Hypercholesterolemia Autosomal Dominant 3 Short Fetal Femur Length	SNV	intron_variant	MONDO MedGen:C0020597 Orphanet:31154 MONDO MedGen:C0020445 OMIM:PS143890 MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C0745103 OMIM:143890 Orphanet:391665 MONDO MedGen:C1863551 OMIM:603776 Human_Phenotype_Ontology:HP:0011428 MedGen:C0743924	PCSK9	Germline		NC_000001.10:g.55518316C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA023184	2483205	Single Nucleotide Variant	0.42759	0.45817	0.39417	45333
1	55524197	rs540796 - 201126	G/G	Benign	Cardiovascular Phenotype Hypobetalipoproteinemia Familial Hypercholesterolemia Not Specified Not Provided Hypercholesterolemia Familial 1 Hypercholesterolemia Autosomal Dominant 3	SNV	SO:0001619 non-coding_transcript_variantSO:0001627 intron_variantSO:0001819 synonymous_variant	MedGen:CN230736 MONDO MedGen:C0020597 Orphanet:31154 MONDO MedGen:C0020445 OMIM:PS143890 MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C0745103 OMIM:143890 Orphanet:391665 MONDO MedGen:C1863551 OMIM:603776	PCSK9	Germline		NC_000001.10:g.55524197A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA023114	540796	Single Nucleotide Variant	0.85440	0.81778	0.86921	196755
1	55524237	rs562556 - 201124	A/A	Benign/Likely Benign	Cardiovascular Phenotype Hypobetalipoproteinemia Familial Hypercholesterolemia Not Specified Not Provided Hypercholesterolemia Familial 1 Hypercholesterolemia Autosomal Dominant 3	SNV	missense_variant	MedGen:CN230736 MONDO MedGen:C0020597 Orphanet:31154 MONDO MedGen:C0020445 OMIM:PS143890 MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C0745103 OMIM:143890 Orphanet:391665 MONDO MedGen:C1863551 OMIM:603776	PCSK9	Germline		NC_000001.10:g.55524237G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA023122 Uniprotkb:Q8NBP7#VAR 021339		Single Nucleotide Variant				196757
1	55525400	rs483462 - 265948	A/A	Benign	Hypercholesterolemia Familial 1	SNV	intron_variant	MONDO MedGen:C0745103 OMIM:143890 Orphanet:391665	PCSK9	Germline		NC_000001.10:g.55525400G>A	Criteria Provided Single Submitter	Clingen:CA10588881	483462	Single Nucleotide Variant			0.67432	260624
1	55529187	rs505151 - 36670	A/A	Benign/Likely Benign	Cardiovascular Phenotype Hypobetalipoproteinemia Familial Hypercholesterolemia Not Specified Not Provided Hypercholesterolemia Familial 1 Hypercholesterolemia Autosomal Dominant 3	SNV	missense_variant	MedGen:CN230736 MONDO MedGen:C0020597 Orphanet:31154 MONDO MedGen:C0020445 OMIM:PS143890 MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C0745103 OMIM:143890 Orphanet:391665 MONDO MedGen:C1863551 OMIM:603776	PCSK9	Germline		NC_000001.10:g.55529187G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA023140 Uniprotkb:Q8NBP7#VAR 017201		Single Nucleotide Variant				45331
1	55529828	rs662145 - 297734	T/T	Benign	Hypobetalipoproteinemia Hypercholesterolemia Autosomal Dominant 3	SNV	3_prime_UTR_variant	MONDO MedGen:C0020597 Orphanet:31154 MONDO MedGen:C1863551 OMIM:603776	PCSK9	Germline		NC_000001.10:g.55529828C>T	Criteria Provided Single Submitter	Clingen:CA10610190	662145	Single Nucleotide Variant			0.72424	280929
1	57340727	rs652785 - 17039	A/A	Benign	Not Specified Not Provided COMPLEMENT COMPONENT 8 ALPHA SUBUNIT A/B POLYMORPHISM	SNV	missense_variant	MedGen:CN169374 MedGen:CN517202 .	C8A	Germline		NC_000001.10:g.57340727C>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA127037 OMIM:120950.0001 Uniprotkb:P07357#VAR 011889	652785	Single Nucleotide Variant	0.36838	0.32093	0.34365	32078
1	57395251	rs605648 - 1168190	C/C	Benign	Not Specified Not Provided	SNV	intron_variant	MedGen:CN169374 MedGen:CN517202	C8B	Germline		NC_000001.10:g.57395251T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1153613
1	57422484	rs1013579 - 1169777	T/T	Benign	Not Provided	SNV	missense_variant	MedGen:CN517202	C8B	Germline		NC_000001.10:g.57422484C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1153619
1	59131311	rs232790 - 1169779	T/T	Benign	Not Provided Bone Marrow Failure Syndrome 4	SNV	intron_variant	MedGen:CN517202 MONDO MedGen:C4748257 OMIM:618116	MYSM1	Germline		NC_000001.10:g.59131311G>T	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1153630
1	59147926	rs12139511 - 1169781	C/C	Benign	Bone Marrow Failure Syndrome 4 Not Provided	SNV	missense_variant	MONDO MedGen:C4748257 OMIM:618116 MedGen:CN517202	MYSM1	Germline		NC_000001.10:g.59147926T>C	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1153636
1	61554627	rs12126737 - 1262821	G/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	NFIA	Germline		NC_000001.10:g.61554627G>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1252730
1	61818422	rs7528918 - 1295340	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	NFIA	Germline		NC_000001.10:g.61818422A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1285135
1	61872541	rs10889221 - 1232930	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	NFIA	Germline		NC_000001.10:g.61872541G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1223343
1	61920769	rs2474358 - 1251220	C/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	NFIA	Germline		NC_000001.10:g.61920769T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1241566
1	62713224	rs2941679 - 1257820	G/G	Benign	Not Provided	SNV	missense_variant	MedGen:CN517202	KANK4	Germline		NC_000001.10:g.62713224C>G	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1249869
1	62713246	rs10889315 - 1272744	G/A	Benign	Not Provided	SNV	synonymous_variant	MedGen:CN517202	KANK4	Germline		NC_000001.10:g.62713246G>A	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1262209
1	62713469	rs10789108 - 1243108	T/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	KANK4	Germline		NC_000001.10:g.62713469T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1233880
1	62728784	rs2666472 - 1239401	G/A	Benign	Not Provided	SNV	missense_variant	MedGen:CN517202	KANK4	Germline		NC_000001.10:g.62728784A>G	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1229731
1	62728838	i6061510 - 1270534	C/T	Benign	Not Provided	SNV	missense_variant	MedGen:CN517202	KANK4	Germline		NC_000001.10:g.62728838T>C	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1261673
1	62728861	rs2260581 - 1295500	C/T	Benign	Not Provided	SNV	synonymous_variant	MedGen:CN517202	KANK4	Germline		NC_000001.10:g.62728861T>C	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1285295
1	62728918	rs2262110 - 1262248	A/G	Benign	Not Provided	SNV	synonymous_variant	MedGen:CN517202	KANK4	Germline		NC_000001.10:g.62728918G>A	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1253439
1	62736841	rs12038843 - 1259780	A/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	KANK4	Germline		NC_000001.10:g.62736841A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1249265
1	62740065	rs12127930 - 1265023	A/G	Benign	Not Provided	SNV	SO:0001627 intron_variantSO:0001819 synonymous_variant	MedGen:CN517202	KANK4	Germline		NC_000001.10:g.62740065A>G	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1255349
1	62740930	rs2666508 - 1178590	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	KANK4	Germline		NC_000001.10:g.62740930A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1167908
1	62741049	rs11207955 - 1178130	C/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	KANK4	Germline		NC_000001.10:g.62741049C>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1167203
1	62939634	rs1168007 - 1255526	T/T	Benign	Developmental And Epileptic Encephalopathy 23 Not Provided	SNV	intron_variant	MONDO MedGen:C4014492 OMIM:615859 Orphanet:411986 MedGen:CN517202	DOCK7	Germline		NC_000001.10:g.62939634C>T	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1245457
1	62953373	rs10493326 - 1294572	A/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	DOCK7	Germline		NC_000001.10:g.62953373G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1284368
1	62960250	rs1168041 - 1296258	C/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	DOCK7	Germline		NC_000001.10:g.62960250T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1286053
1	63001120	rs1168018 - 1243061	C/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	DOCK7	Germline		NC_000001.10:g.63001120A>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1233833
1	63027024	rs4329540 - 1296201	T/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	DOCK7	Germline		NC_000001.10:g.63027024C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1285996
1	63871881	rs1012872 - 1180566	A/G	Benign	ALG6-Congenital Disorder Of Glycosylation 1C Not Provided	SNV	intron_variant	MONDO MedGen:C2930997 OMIM:603147 Orphanet:79320 MedGen:CN517202	ALG6	Germline		NC_000001.10:g.63871881A>G	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1170099
1	63872871	rs6588028 - 1180568	G/A	Benign	Not Provided ALG6-Congenital Disorder Of Glycosylation 1C	SNV	intron_variant	MedGen:CN517202 MONDO MedGen:C2930997 OMIM:603147 Orphanet:79320	ALG6	Germline		NC_000001.10:g.63872871A>G	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1170101
1	63902431	rs12023577 - 1291394	A/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ALG6	Germline		NC_000001.10:g.63902431A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1281208
1	64095042	rs855313 - 676175	G/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	PGM1	Germline		NC_000001.10:g.64095042G>T	Criteria Provided Single Submitter		855313	Single Nucleotide Variant			0.09046	657947
1	64095111	rs855314 - 297871	A/G	Benign/Likely Benign	Not Specified PGM1-Congenital Disorder Of Glycosylation Congenital Disorder Of Glycosylation Not Provided	SNV	SO:0001583 missense_variantSO:0001623 5_prime_UTR_variant	MedGen:CN169374 MONDO MedGen:C2752015 OMIM:614921 Orphanet:319646 MONDO MedGen:C0282577 Orphanet:137 MedGen:CN517202	PGM1	Germline		NC_000001.10:g.64095111A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA889498 Uniprotkb:P36871#VAR 050496	855314	Single Nucleotide Variant	0.13043	0.17446	0.12979	282807
1	64114301	rs11208257 - 297885	T/C	Benign	Not Provided PGM1-Congenital Disorder Of Glycosylation Congenital Disorder Of Glycosylation Not Specified	SNV	missense_variant	MedGen:CN517202 MONDO MedGen:C2752015 OMIM:614921 Orphanet:319646 MONDO MedGen:C0282577 Orphanet:137 MedGen:CN169374	PGM1	Germline		NC_000001.10:g.64114301T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA889779 Uniprotkb:P36871#VAR 006092	11208257	Single Nucleotide Variant	0.22398	0.18015	0.22584	281618
1	64125072	rs11208264 - 1243880	T/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	PGM1	Germline		NC_000001.10:g.64125072T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1232133
1	64125439	rs4643 - 297897	A/C	Benign/Likely Benign	Congenital Disorder Of Glycosylation Not Provided PGM1-Congenital Disorder Of Glycosylation	SNV	3_prime_UTR_variant	MONDO MedGen:C0282577 Orphanet:137 MedGen:CN517202 MONDO MedGen:C2752015 OMIM:614921 Orphanet:319646	PGM1	Germline		NC_000001.10:g.64125439A>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA10610626	4643	Single Nucleotide Variant			0.18470	281638
1	64515379	rs1772626 - 1240716	T/T	Benign	Hearing Loss Autosomal Recessive 108 Not Provided	SNV	synonymous_variant	MONDO MedGen:C4539997 OMIM:617654 MedGen:CN517202	ROR1	Germline		NC_000001.10:g.64515379C>T	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1231537
1	65730862	rs1749971 - 1181884	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	DNAJC6	Germline		NC_000001.10:g.65730862A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1170762
1	65830608	rs1570868 - 1222461	T/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	DNAJC6	Germline		NC_000001.10:g.65830608T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1212859
1	65851759	rs10889546 - 1243721	A/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	DNAJC6	Germline		NC_000001.10:g.65851759G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1233209
1	65858088	rs6588144 - 1267313	T/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	DNAJC6	Germline		NC_000001.10:g.65858088T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1254636
1	65874037	rs3818513 - 1287944	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	DNAJC6	Germline		NC_000001.10:g.65874037T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1277776
1	66031063	rs6673324 - 1235035	A/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	LEPR	Germline		NC_000001.10:g.66031063G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1222865
1	66036441	rs1137100 - 8523	A/G	Benign	Monogenic Non-Syndromic Obesity Not Specified Obesity Due To Leptin Receptor Gene Deficiency Not Provided LEPTIN RECEPTOR POLYMORPHISM	SNV	missense_variant	MedGen:CN239457 MedGen:CN169374 MONDO MedGen:C3554225 OMIM:614963 Orphanet:179494 MedGen:CN517202 .	LEPR	Germline		NC_000001.10:g.66036441A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA119672 OMIM:601007.0004 Uniprotkb:P48357#VAR 002703	1137100	Single Nucleotide Variant	0.29416		0.32029	23562
1	66058513	rs1137101 - 8521	G/G	Benign	Monogenic Non-Syndromic Obesity Not Provided Not Specified Obesity Due To Leptin Receptor Gene Deficiency LEPTIN RECEPTOR POLYMORPHISM	SNV	missense_variant	MedGen:CN239457 MedGen:CN517202 MedGen:CN169374 MONDO MedGen:C3554225 OMIM:614963 Orphanet:179494 .	LEPR	Germline		NC_000001.10:g.66058513A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA119663 OMIM:601007.0001 Uniprotkb:P48357#VAR 002705	1137101	Single Nucleotide Variant	0.51031		0.58427	23560
1	66058801	rs4655537 - 1286120	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	LEPR	Germline		NC_000001.10:g.66058801A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1275959
1	66067109	rs3790419 - 297991	T/C	Benign/Likely Benign	Obesity Due To Leptin Receptor Gene Deficiency Not Provided Monogenic Non-Syndromic Obesity Not Specified	SNV	synonymous_variant	MONDO MedGen:C3554225 OMIM:614963 Orphanet:179494 MedGen:CN517202 MedGen:CN239457 MedGen:CN169374	LEPR	Germline		NC_000001.10:g.66067109T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA894714	1805134	Single Nucleotide Variant	0.22866	0.24373	0.25399	282944
1	66070602	rs11208686 - 1262068	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	LEPR	Germline		NC_000001.10:g.66070602G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1250682
1	66088701	rs12067936 - 1183122	A/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	LEPR	Germline		NC_000001.10:g.66088701C>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1170765
1	66102257	rs1805096 - 298000	A/G	Benign	Obesity Due To Leptin Receptor Gene Deficiency Not Provided Monogenic Non-Syndromic Obesity Not Specified	SNV	synonymous_variant	MONDO MedGen:C3554225 OMIM:614963 Orphanet:179494 MedGen:CN517202 MedGen:CN239457 MedGen:CN169374	LEPR	Germline		NC_000001.10:g.66102257G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA895214	1805096	Single Nucleotide Variant	0.45262	0.40750	0.52975	282947
1	67487119	rs2065002 - 1231615	A/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	SLC35D1	Germline		NC_000001.10:g.67487119C>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1220287
1	67512695	rs1024228 - 1249477	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	SLC35D1	Germline		NC_000001.10:g.67512695A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1241102
1	67512903	rs1024229 - 1234892	T/T	Benign	Not Provided Schneckenbecken Dysplasia	SNV	intron_variant	MedGen:CN517202 MONDO MedGen:C0432194 OMIM:269250 Orphanet:3144	SLC35D1	Germline		NC_000001.10:g.67512903G>T	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1224007
1	67512920	rs1024230 - 1270736	C/C	Benign	Schneckenbecken Dysplasia Not Provided	SNV	intron_variant	MONDO MedGen:C0432194 OMIM:269250 Orphanet:3144 MedGen:CN517202	SLC35D1	Germline		NC_000001.10:g.67512920A>C	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1261872
1	67633812	rs1884444 - 1169496	T/T	Benign	Not Provided	SNV	missense_variant	MedGen:CN517202	IL23R	Germline		NC_000001.10:g.67633812G>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1153672
1	67685387	rs7530511 - 1169786	C/C	Benign	Not Provided	SNV	missense_variant	MedGen:CN517202	IL23R	Germline		NC_000001.10:g.67685387T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1153677
1	67795319	rs1495963 - 1169787	C/T	Benign	Not Provided	SNV	SO:0001619 non-coding_transcript_variantSO:0001819 synonymous_variant	MedGen:CN517202	IL12RB2	Germline		NC_000001.10:g.67795319T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1153682
1	67833501	rs2252596 - 1169793	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	IL12RB2	Germline		NC_000001.10:g.67833501G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1153683
1	67852335	rs4297265 - 1170882	G/A	Benign	Not Provided	SNV	SO:0001619 non-coding_transcript_variantSO:0001627 intron_variantSO:0001819 synonymous_variant	MedGen:CN517202	IL12RB2	Germline		NC_000001.10:g.67852335G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1153687
1	67861520	rs2229546 - 1164694	A/C	Benign	Not Provided	SNV	SO:0001619 non-coding_transcript_variantSO:0001624 3_prime_UTR_variantSO:0001819 synonymous_variant	MedGen:CN517202	IL12RB2	Germline		NC_000001.10:g.67861520C>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1153690
1	68903942	rs12145904 - 98820	C/T	Benign	Retinitis Pigmentosa 87 With Choroidal Involvement Not Specified Leber Congenital Amaurosis 2 Retinitis Pigmentosa 20 Leber Congenital Amaurosis Not Provided Retinitis Pigmentosa	SNV	synonymous_variant	MONDO MedGen:C5231465 OMIM:618697 MedGen:CN169374 MONDO MedGen:C1859844 OMIM:204100 Orphanet:65 MONDO MedGen:C3151086 OMIM:613794 Orphanet:791 MONDO MeSH:D057130 MedGen:C0339527 OMIM:PS204000 Orphanet:65 MedGen:CN517202 Human_Phenotype_Ontology:HP:0000547 MONDO MeSH:D012174 MedGen:C0035334 OMIM:268000 OMIM:PS268000 Orphanet:791	RPE65	Germline		NC_000001.10:g.68903942C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA285811	12145904	Single Nucleotide Variant		0.15601	0.22384	104710
1	68904266	rs3125902 - 1175543	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	RPE65	Germline		NC_000001.10:g.68904266T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1164870
1	68905358	rs1925955 - 255839	C/G	Benign	Not Provided Leber Congenital Amaurosis 2 Retinitis Pigmentosa 20 Retinitis Pigmentosa 87 With Choroidal Involvement Not Specified	SNV	intron_variant	MedGen:CN517202 MONDO MedGen:C1859844 OMIM:204100 Orphanet:65 MONDO MedGen:C3151086 OMIM:613794 Orphanet:791 MONDO MedGen:C5231465 OMIM:618697 MedGen:CN169374	RPE65	Germline		NC_000001.10:g.68905358G>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA902438	1925955	Single Nucleotide Variant		0.51891	0.69349	250012
1	68912755	rs2012235 - 1227040	T/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	RPE65	Germline		NC_000001.10:g.68912755T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1217012
1	70904800	rs1021737 - 2941	G/T	Benign	Cystathioninuria Homocysteine Level Elevated	SNV	missense_variant	Human_Phenotype_Ontology:HP:0003153 MONDO MedGen:C0220993 OMIM:219500 Orphanet:212 MedGen:C4551332	CTH	Germline		NC_000001.10:g.70904800G>T	Criteria Provided Single Submitter	Clingen:CA115891 OMIM:607657.0005 Uniprotkb:P32929#VAR 015452	1021737	Single Nucleotide Variant	0.27705		0.20527	17980
1	74737597	rs1412827 - 1245725	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	TNNI3K	Germline		NC_000001.10:g.74737597A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1234394
1	75006076	rs3845348 - 1221310	A/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	TNNI3K	Germline		NC_000001.10:g.75006076G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1211706
1	76194306	rs1146572 - 1261087	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ACADM	Germline		NC_000001.10:g.76194306A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1252287
1	78024284	rs6675743 - 402358	C/C	Benign	Not Specified	SNV	intron_variant	MedGen:CN169374	AK5	Germline		NC_000001.10:g.78024284T>C	Criteria Provided Single Submitter	Clingen:CA916645	6675743	Single Nucleotide Variant	0.74619	0.71682	0.68530	389472
1	78392446	rs1166698 - 47911	G/A	Benign	Cardiovascular Phenotype Hypertrophic Cardiomyopathy 20 Dilated Cardiomyopathy 1CC Not Specified	SNV	missense_variant	MedGen:CN230736 MONDO MedGen:C3151267 OMIM:613876 MONDO MedGen:C2751084 OMIM:613122 Orphanet:154 MedGen:CN169374	NEXN	Germline		NC_000001.10:g.78392446G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA142168 Uniprotkb:Q0ZGT2#VAR 049963	1166698	Single Nucleotide Variant	0.18459	0.15781	0.15076	57075
1	91859801	rs11165778 - 1277748	G/G	Benign	Not Provided	SNV	SO:0001583 missense_variantSO:0001619 non-coding_transcript_variant	MedGen:CN517202	HFM1	Germline		NC_000001.10:g.91859801A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1269081
1	92733966	rs2087194 - 1231890	C/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	GLMN	Germline		NC_000001.10:g.92733966A>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1219307
1	93089823	rs7514716 - 402838	C/C	Benign	Not Specified	SNV	synonymous_variant	MedGen:CN169374	EVI5	Germline		NC_000001.10:g.93089823T>C	Criteria Provided Single Submitter	Clingen:CA951743	7514716	Single Nucleotide Variant	0.92158	0.91319	0.94908	389434
1	93160902	rs2391199 - 402839	C/C	Benign	Not Specified	SNV	missense_variant	MedGen:CN169374	EVI5	Germline		NC_000001.10:g.93160902T>C	Criteria Provided Single Submitter	Clingen:CA951998	2391199	Single Nucleotide Variant	0.92158	0.91296	0.95028	389440
1	93306317	rs10874744 - 298213	A/G	Benign	Congenital Hypoplastic Anemia	SNV	SO:0001619 non-coding_transcript_variantSO:0001627 intron_variant	Human_Phenotype_Ontology:HP:0004810 Human_Phenotype_Ontology:HP:0005545 MONDO MeSH:D029503 MedGen:C1260899 OMIM:PS105650 Orphanet:124	RPL5	Germline		NC_000001.10:g.93306317G>A	Criteria Provided Single Submitter	Clingen:CA952593	10874744	Single Nucleotide Variant	0.67700	0.56906	0.69189	283380
1	94471075	rs1762114 - 136235	G/G	Benign	ABCA4-Related Disorders Stargardt Disease Recessive Retinitis Pigmentosa Recessive Cone-Rod Dystrophy Recessive Not Specified Not Provided Age Related Macular Degeneration 2 Cone-Rod Dystrophy 3 Severe Early-Childhood-Onset Retinal Dystrophy Retinitis Pigmentosa 19 Macular Degeneration	SNV	synonymous_variant	MedGen:CN239167 MedGen:CN239312 MedGen:CN239466 MedGen:CN239309 MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C3495438 OMIM:153800 MONDO MedGen:C1858806 OMIM:604116 Orphanet:1872 MONDO MeSH:D000080362 MedGen:C1855465 OMIM:248200 Orphanet:364055 Orphanet:827 MONDO MedGen:C1866422 OMIM:601718 Orphanet:791 Human_Phenotype_Ontology:HP:0000608 Human_Phenotype_Ontology:HP:0007694 MONDO MedGen:C0024437	ABCA4	Germline		NC_000001.10:g.94471075A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA202915	1762114	Single Nucleotide Variant	0.88938	0.77572	0.76997	139938
1	94471154	rs4147863 - 99426	C/T	Benign	Not Specified Not Provided Retinitis Pigmentosa 19 Cone-Rod Dystrophy 3 Severe Early-Childhood-Onset Retinal Dystrophy Age Related Macular Degeneration 2	SNV	intron_variant	MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C1866422 OMIM:601718 Orphanet:791 MONDO MedGen:C1858806 OMIM:604116 Orphanet:1872 MONDO MeSH:D000080362 MedGen:C1855465 OMIM:248200 Orphanet:364055 Orphanet:827 MONDO MedGen:C3495438 OMIM:153800	ABCA4	Germline		NC_000001.10:g.94471154C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA285824	4147863	Single Nucleotide Variant		0.17354	0.14097	105315
1	94472909	rs7531001 - 1247414	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ABCA4	Germline		NC_000001.10:g.94472909G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1234793
1	94473896	rs2275031 - 255925	G/T	Benign	Not Specified Not Provided Age Related Macular Degeneration 2 Cone-Rod Dystrophy 3 Retinitis Pigmentosa 19 Severe Early-Childhood-Onset Retinal Dystrophy	SNV	intron_variant	MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C3495438 OMIM:153800 MONDO MedGen:C1858806 OMIM:604116 Orphanet:1872 MONDO MedGen:C1866422 OMIM:601718 Orphanet:791 MONDO MeSH:D000080362 MedGen:C1855465 OMIM:248200 Orphanet:364055 Orphanet:827	ABCA4	Germline		NC_000001.10:g.94473896G>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA957105	2275031	Single Nucleotide Variant	0.17353	0.20114	0.17812	250030
1	94474020	rs1191234 - 678762	A/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ABCA4	Germline		NC_000001.10:g.94474020G>A	Criteria Provided Single Submitter		1191234	Single Nucleotide Variant			0.89117	658099
1	94474185	rs2275032 - 1251340	A/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ABCA4	Germline		NC_000001.10:g.94474185A>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1241686
1	94474328	rs4147857 - 99407	T/C	Benign/Likely Benign	ABCA4-Related Disorders Stargardt Disease Recessive Cone-Rod Dystrophy Recessive Retinitis Pigmentosa Recessive Not Specified Not Provided Retinitis Pigmentosa 19 Cone-Rod Dystrophy 3 Age Related Macular Degeneration 2 Severe Early-Childhood-Onset Retinal Dystrophy Macular Degeneration	SNV	synonymous_variant	MedGen:CN239167 MedGen:CN239312 MedGen:CN239309 MedGen:CN239466 MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C1866422 OMIM:601718 Orphanet:791 MONDO MedGen:C1858806 OMIM:604116 Orphanet:1872 MONDO MedGen:C3495438 OMIM:153800 MONDO MeSH:D000080362 MedGen:C1855465 OMIM:248200 Orphanet:364055 Orphanet:827 Human_Phenotype_Ontology:HP:0000608 Human_Phenotype_Ontology:HP:0007694 MONDO MedGen:C0024437	ABCA4	Germline		NC_000001.10:g.94474328T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA285820	4147857	Single Nucleotide Variant	0.18859	0.20691	0.18750	105296
1	94474452	rs4147856 - 99404	T/G	Benign	Not Specified Not Provided Retinitis Pigmentosa 19 Cone-Rod Dystrophy 3 Severe Early-Childhood-Onset Retinal Dystrophy Age Related Macular Degeneration 2	SNV	intron_variant	MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C1866422 OMIM:601718 Orphanet:791 MONDO MedGen:C1858806 OMIM:604116 Orphanet:1872 MONDO MeSH:D000080362 MedGen:C1855465 OMIM:248200 Orphanet:364055 Orphanet:827 MONDO MedGen:C3495438 OMIM:153800	ABCA4	Germline		NC_000001.10:g.94474452T>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA227339	4147856	Single Nucleotide Variant	0.18854	0.20698	0.18770	105293
1	94476035	rs2065712 - 1274987	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ABCA4	Germline		NC_000001.10:g.94476035C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1265523
1	94476388	rs1801574 - 99396	C/G	Benign/Likely Benign	ABCA4-Related Disorders Stargardt Disease Recessive Cone-Rod Dystrophy Recessive Retinitis Pigmentosa Recessive Not Specified Not Provided Retinitis Pigmentosa 19 Cone-Rod Dystrophy 3 Severe Early-Childhood-Onset Retinal Dystrophy Age Related Macular Degeneration 2 Macular Degeneration	SNV	synonymous_variant	MedGen:CN239167 MedGen:CN239312 MedGen:CN239309 MedGen:CN239466 MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C1866422 OMIM:601718 Orphanet:791 MONDO MedGen:C1858806 OMIM:604116 Orphanet:1872 MONDO MeSH:D000080362 MedGen:C1855465 OMIM:248200 Orphanet:364055 Orphanet:827 MONDO MedGen:C3495438 OMIM:153800 Human_Phenotype_Ontology:HP:0000608 Human_Phenotype_Ontology:HP:0007694 MONDO MedGen:C0024437	ABCA4	Germline		NC_000001.10:g.94476388C>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA202871	1801574	Single Nucleotide Variant	0.21967	0.24927	0.20068	105285
1	94476555	rs537831 - 99389	A/G	Benign	Age Related Macular Degeneration 2 Cone-Rod Dystrophy 3 Severe Early-Childhood-Onset Retinal Dystrophy Retinitis Pigmentosa 19 Not Provided	SNV	intron_variant	MONDO MedGen:C3495438 OMIM:153800 MONDO MedGen:C1858806 OMIM:604116 Orphanet:1872 MONDO MeSH:D000080362 MedGen:C1855465 OMIM:248200 Orphanet:364055 Orphanet:827 MONDO MedGen:C1866422 OMIM:601718 Orphanet:791 MedGen:CN517202	ABCA4	Germline		NC_000001.10:g.94476555G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA227324	537831	Single Nucleotide Variant			0.69149	105278
1	94476695	rs2065711 - 1294232	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ABCA4	Germline		NC_000001.10:g.94476695C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1284023
1	94477232	rs565155 - 680456	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ABCA4	Germline		NC_000001.10:g.94477232T>G	Criteria Provided Single Submitter		565155	Single Nucleotide Variant			0.90455	658070
1	94480037	rs2275033 - 1282828	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ABCA4	Germline		NC_000001.10:g.94480037C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1271397
1	94480439	rs2275034 - 678761	T/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ABCA4	Germline		NC_000001.10:g.94480439T>C	Criteria Provided Single Submitter		2275034	Single Nucleotide Variant			0.51038	657925
1	94480529	rs3818778 - 680455	A/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ABCA4	Germline		NC_000001.10:g.94480529A>C	Criteria Provided Single Submitter		3818778	Single Nucleotide Variant			0.39177	657991
1	94487354	rs472908 - 99319	A/G	Benign	Not Specified Not Provided Retinitis Pigmentosa 19 Cone-Rod Dystrophy 3 Severe Early-Childhood-Onset Retinal Dystrophy Age Related Macular Degeneration 2	SNV	intron_variant	MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C1866422 OMIM:601718 Orphanet:791 MONDO MedGen:C1858806 OMIM:604116 Orphanet:1872 MONDO MeSH:D000080362 MedGen:C1855465 OMIM:248200 Orphanet:364055 Orphanet:827 MONDO MedGen:C3495438 OMIM:153800	ABCA4	Germline		NC_000001.10:g.94487354G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA227237	472908	Single Nucleotide Variant	0.58192	0.63023	0.58886	105208
1	94492773	rs3945204 - 680453	T/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ABCA4	Germline		NC_000001.10:g.94492773T>C	Criteria Provided Single Submitter		3945204	Single Nucleotide Variant			0.49221	658101
1	94495407	rs4147846 - 1298276	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ABCA4	Germline		NC_000001.10:g.94495407C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1288061
1	94495417	rs4147845 - 1269154	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ABCA4	Germline		NC_000001.10:g.94495417C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1260297
1	94495487	rs4147844 - 1279027	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ABCA4	Germline		NC_000001.10:g.94495487G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1266312
1	94497178	rs4147841 - 678757	G/A	Benign	Not Provided Age Related Macular Degeneration 2 Severe Early-Childhood-Onset Retinal Dystrophy Cone-Rod Dystrophy 3 Retinitis Pigmentosa 19	SNV	intron_variant	MedGen:CN517202 MONDO MedGen:C3495438 OMIM:153800 MONDO MeSH:D000080362 MedGen:C1855465 OMIM:248200 Orphanet:364055 Orphanet:827 MONDO MedGen:C1858806 OMIM:604116 Orphanet:1872 MONDO MedGen:C1866422 OMIM:601718 Orphanet:791	ABCA4	Germline		NC_000001.10:g.94497178G>A	Criteria Provided Multiple Submitters No Conflicts		4147841	Single Nucleotide Variant			0.48522	658103
1	94503197	rs1889548 - 1239261	C/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ABCA4	Germline		NC_000001.10:g.94503197A>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1229591
1	94512893	rs544830 - 678755	T/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ABCA4	Germline		NC_000001.10:g.94512893C>T	Criteria Provided Single Submitter		544830	Single Nucleotide Variant			0.31649	657942
1	94516985	rs1191231 - 1233752	C/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ABCA4	Germline		NC_000001.10:g.94516985A>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1225419
1	94525623	rs521538 - 680452	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ABCA4	Germline		NC_000001.10:g.94525623A>G	Criteria Provided Single Submitter		521538	Single Nucleotide Variant			0.70467	658079
1	94544234	rs3112831 - 99040	T/C	Benign/Likely Benign	ABCA4-Related Disorders Stargardt Disease Recessive Cone-Rod Dystrophy Recessive Retinitis Pigmentosa Recessive Not Specified Not Provided Macular Degeneration	SNV	missense_variant	MedGen:CN239167 MedGen:CN239312 MedGen:CN239309 MedGen:CN239466 MedGen:CN169374 MedGen:CN517202 Human_Phenotype_Ontology:HP:0000608 Human_Phenotype_Ontology:HP:0007694 MONDO MedGen:C0024437	ABCA4	Germline		NC_000001.10:g.94544234T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA200667 Uniprotkb:P78363#VAR 012517	3112831	Single Nucleotide Variant	0.25526	0.26065	0.22085	104930
1	94549029	rs526016 - 99507	A/G	Benign	Not Specified Not Provided	SNV	intron_variant	MedGen:CN169374 MedGen:CN517202	ABCA4	Germline		NC_000001.10:g.94549029A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA227461	526016	Single Nucleotide Variant	0.24608	0.24488	0.19768	105396
1	94549083	rs574741 - 1178367	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ABCA4	Germline		NC_000001.10:g.94549083T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1167915
1	94576968	rs2297634 - 99189	C/T	Benign	Not Specified Not Provided Retinitis Pigmentosa 19 Severe Early-Childhood-Onset Retinal Dystrophy Age Related Macular Degeneration 2 Cone-Rod Dystrophy 3	SNV	intron_variant	MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C1866422 OMIM:601718 Orphanet:791 MONDO MeSH:D000080362 MedGen:C1855465 OMIM:248200 Orphanet:364055 Orphanet:827 MONDO MedGen:C3495438 OMIM:153800 MONDO MedGen:C1858806 OMIM:604116 Orphanet:1872	ABCA4	Germline		NC_000001.10:g.94576968T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA227070	2297634	Single Nucleotide Variant		0.47309	0.54693	105078
1	94578548	rs4847281 - 166618	C/C	Benign	Not Specified Not Provided Age Related Macular Degeneration 2 Cone-Rod Dystrophy 3 Retinitis Pigmentosa 19 Severe Early-Childhood-Onset Retinal Dystrophy	SNV	synonymous_variant	MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C3495438 OMIM:153800 MONDO MedGen:C1858806 OMIM:604116 Orphanet:1872 MONDO MedGen:C1866422 OMIM:601718 Orphanet:791 MONDO MeSH:D000080362 MedGen:C1855465 OMIM:248200 Orphanet:364055 Orphanet:827	ABCA4	Germline		NC_000001.10:g.94578548T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA179694	4847281	Single Nucleotide Variant		0.98770	0.98702	177452
1	94586328	rs3789451 - 1298274	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ABCA4	Germline		NC_000001.10:g.94586328C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1288059
1	94930345	rs16946 - 258821	G/A	Benign	Congenital Bile Acid Synthesis Defect 5 Not Specified Not Provided	SNV	synonymous_variant	MONDO MedGen:C4225390 OMIM:616278 MedGen:CN169374 MedGen:CN517202	ABCD3	Germline		NC_000001.10:g.94930345G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA960055	16946	Single Nucleotide Variant	0.39233	0.37221	0.27995	250040
1	97543752	rs291593 - 100064	A/A	Benign	Not Provided Dihydropyrimidine Dehydrogenase Deficiency	SNV	3_prime_UTR_variant	MedGen:CN517202 MONDO MedGen:C1959620 OMIM:274270 Orphanet:1675	DPYD	Germline		NC_000001.10:g.97543752G>A	Criteria Provided Single Submitter	Clingen:CA228066	291593	Single Nucleotide Variant			0.38498	105941
1	97543764	rs291592 - 100065	T/T	Benign	Not Provided Dihydropyrimidine Dehydrogenase Deficiency	SNV	3_prime_UTR_variant	MedGen:CN517202 MONDO MedGen:C1959620 OMIM:274270 Orphanet:1675	DPYD	Germline		NC_000001.10:g.97543764C>T	Criteria Provided Single Submitter	Clingen:CA228067	291592	Single Nucleotide Variant			0.57748	105942
1	97543959	rs1042482 - 100067	C/T	Benign	Not Provided Dihydropyrimidine Dehydrogenase Deficiency	SNV	3_prime_UTR_variant	MedGen:CN517202 MONDO MedGen:C1959620 OMIM:274270 Orphanet:1675	DPYD	Germline		NC_000001.10:g.97543959C>T	Criteria Provided Single Submitter	Clingen:CA228069	1042482	Single Nucleotide Variant			0.08946	105944
1	97544771	rs290855 - 1222833	C/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	DPYD	Germline		NC_000001.10:g.97544771T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1211942
1	97700589	rs12137711 - 100076	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	DPYD	Germline		NC_000001.10:g.97700589C>T	Criteria Provided Single Submitter	Clingen:CA228093	12137711	Single Nucleotide Variant	0.11761	0.08750	0.08806	105953
1	97839016	rs1890138 - 1228303	A/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	DPYD	Germline		NC_000001.10:g.97839016A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1218268
1	97839413	rs6699630 - 1286217	G/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	DPYD	Germline		NC_000001.10:g.97839413C>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1276055
1	100327026	rs2307129 - 256750	C/T	Benign	Not Specified Glycogen Storage Disease Type III	SNV	intron_variant	MedGen:CN169374 MONDO MedGen:C0017922 OMIM:232400 Orphanet:366	AGL	Germline		NC_000001.10:g.100327026C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA966048	2307129	Single Nucleotide Variant	0.19623	0.24181	0.22724	250042
1	100340225	rs634880 - 256751	A/A	Benign	Glycogen Storage Disease Type III Not Provided Not Specified	SNV	intron_variant	MONDO MedGen:C0017922 OMIM:232400 Orphanet:366 MedGen:CN517202 MedGen:CN169374	AGL	Germline		NC_000001.10:g.100340225G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA966335	634880	Single Nucleotide Variant	0.73142	0.74831	0.74341	250046
1	100342227	rs3736295 - 1294319	T/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	AGL	Germline		NC_000001.10:g.100342227C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1284109
1	100346741	rs3736296 - 256725	C/T	Benign	Glycogen Storage Disease Type III Not Specified Not Provided	SNV	intron_variant	MONDO MedGen:C0017922 OMIM:232400 Orphanet:366 MedGen:CN169374 MedGen:CN517202	AGL	Germline		NC_000001.10:g.100346741T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA966658	3736296	Single Nucleotide Variant	0.55171	0.50415	0.55851	250054
1	100349381	rs17409324 - 682726	A/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	AGL	Germline		NC_000001.10:g.100349381A>C	Criteria Provided Single Submitter		17409324	Single Nucleotide Variant			0.36921	658118
1	100358103	rs3753494 - 256734	C/T	Benign	Glycogen Storage Disease Type III Not Specified Not Provided	SNV	missense_variant	MONDO MedGen:C0017922 OMIM:232400 Orphanet:366 MedGen:CN169374 MedGen:CN517202	AGL	Germline		NC_000001.10:g.100358103C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA966996 Uniprotkb:P35573#VAR 020389	3753494	Single Nucleotide Variant	0.13613	0.13947	0.11062	250062
1	100358200	rs594249 - 256735	A/A	Benign	Not Provided Glycogen Storage Disease Type III Not Specified	SNV	intron_variant	MedGen:CN517202 MONDO MedGen:C0017922 OMIM:232400 Orphanet:366 MedGen:CN169374	AGL	Germline		NC_000001.10:g.100358200G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA967017	594249	Single Nucleotide Variant	0.69120	0.65495	0.68151	250063
1	100388503	rs1804809 - 291368	A/C	Benign	Glycogen Storage Disease Type III	SNV	3_prime_UTR_variant	MONDO MedGen:C0017922 OMIM:232400 Orphanet:366	AGL	Germline		NC_000001.10:g.100388503A>C	Criteria Provided Single Submitter	Clingen:CA10610495	1804809	Single Nucleotide Variant			0.37580	281435
1	100388748	rs3766603 - 291369	T/C	Benign	Glycogen Storage Disease Type III	SNV	3_prime_UTR_variant	MONDO MedGen:C0017922 OMIM:232400 Orphanet:366	AGL	Germline		NC_000001.10:g.100388748T>C	Criteria Provided Single Submitter	Clingen:CA10610912	3766603	Single Nucleotide Variant			0.40176	282095
1	100575933	rs13375867 - 1263477	A/G	Benign	Microcephaly 14 Primary Autosomal Recessive Not Provided	SNV	missense_variant	MONDO MedGen:C4225338 OMIM:616402 Orphanet:2512 MedGen:CN517202	SASS6	Germline		NC_000001.10:g.100575933G>A	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1252094
1	100656265	rs11166412 - 291404	T/T	Benign	Not Provided Maple Syrup Urine Disease	SNV	3_prime_UTR_variant	MedGen:CN517202 MONDO MeSH:D008375 MedGen:C0024776 OMIM:248600 OMIM:PS248600 Orphanet:511	DBT	Germline		NC_000001.10:g.100656265C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA10607164	11166412	Single Nucleotide Variant			0.80072	275613
1	100656494	rs11166413 - 291406	A/G	Benign	Not Provided Maple Syrup Urine Disease	SNV	3_prime_UTR_variant	MedGen:CN517202 MONDO MeSH:D008375 MedGen:C0024776 OMIM:248600 OMIM:PS248600 Orphanet:511	DBT	Germline		NC_000001.10:g.100656494A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA10607152	11166413	Single Nucleotide Variant			0.26378	275601
1	100658578	rs2784174 - 291424	A/A	Benign	Not Provided Maple Syrup Urine Disease	SNV	3_prime_UTR_variant	MedGen:CN517202 MONDO MeSH:D008375 MedGen:C0024776 OMIM:248600 OMIM:PS248600 Orphanet:511	DBT	Germline		NC_000001.10:g.100658578G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA10607172	2784174	Single Nucleotide Variant			0.76957	275625
1	100672060	rs12021720 - 128885	C/C	Benign/Likely Benign	Maple Syrup Urine Disease Not Provided Not Specified	SNV	missense_variant	MONDO MeSH:D008375 MedGen:C0024776 OMIM:248600 OMIM:PS248600 Orphanet:511 MedGen:CN517202 MedGen:CN169374	DBT	Germline		NC_000001.10:g.100672060T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA152551	12021720	Single Nucleotide Variant	0.91377		0.89177	134332
1	100715454	rs3806235 - 1263587	A/A	Benign	Not Provided	SNV		MedGen:CN517202	DBT	Germline		NC_000001.10:g.100715454G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1250914
1	100818728	rs17420882 - 1278440	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	CDC14A	Germline		NC_000001.10:g.100818728T>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1268316
1	100933388	rs560431 - 1192712	C/C	Benign	Not Provided Autosomal Recessive Nonsyndromic Hearing Loss 32	SNV	intron_variant	MedGen:CN517202 MONDO MedGen:C1837608 OMIM:608653 Orphanet:90636	CDC14A	Germline		NC_000001.10:g.100933388T>C	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1182542
1	103352451	rs2229783 - 258470	G/G	Benign	Not Provided Stickler Syndrome Type 2 Hearing Loss Autosomal Dominant 37 Fibrochondrogenesis 1 Not Specified Marshall Syndrome	SNV	SO:0001619 non-coding_transcript_variantSO:0001819 synonymous_variant	MedGen:CN517202 MONDO MedGen:C1858084 OMIM:604841 Orphanet:828 Orphanet:90654 MONDO MedGen:C4760307 OMIM:618533 MONDO MedGen:C3278138 OMIM:228520 Orphanet:2021 MedGen:CN169374 MONDO MedGen:C0265235 OMIM:154780 Orphanet:560	COL11A1	Germline		NC_000001.10:g.103352451A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA973415	2229783	Single Nucleotide Variant	0.58015	0.44841	0.48463	249270
1	103354428	rs1763347 - 258466	G/G	Benign	Hearing Loss Autosomal Dominant 37 Not Specified Fibrochondrogenesis 1 Not Provided Marshall Syndrome Stickler Syndrome Type 2	SNV	SO:0001619 non-coding_transcript_variantSO:0001819 synonymous_variant	MONDO MedGen:C4760307 OMIM:618533 MedGen:CN169374 MONDO MedGen:C3278138 OMIM:228520 Orphanet:2021 MedGen:CN517202 MONDO MedGen:C0265235 OMIM:154780 Orphanet:560 MONDO MedGen:C1858084 OMIM:604841 Orphanet:828 Orphanet:90654	COL11A1	Germline		NC_000001.10:g.103354428A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA973504	1763347	Single Nucleotide Variant	0.72387	0.62294	0.62260	249274
1	103377968	rs11164636 - 1240471	C/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	COL11A1	Germline		NC_000001.10:g.103377968A>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1231295
1	103379918	rs3753841 - 258461	A/A	Benign	Not Specified Stickler Syndrome Type 2 Hearing Loss Autosomal Dominant 37 Fibrochondrogenesis 1 Not Provided Marshall Syndrome	SNV	SO:0001583 missense_variantSO:0001619 non-coding_transcript_variant	MedGen:CN169374 MONDO MedGen:C1858084 OMIM:604841 Orphanet:828 Orphanet:90654 MONDO MedGen:C4760307 OMIM:618533 MONDO MedGen:C3278138 OMIM:228520 Orphanet:2021 MedGen:CN517202 MONDO MedGen:C0265235 OMIM:154780 Orphanet:560	COL11A1	Germline		NC_000001.10:g.103379918G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA973754 Uniprotkb:P12107#VAR 047726	3753841	Single Nucleotide Variant	0.59155	0.45172	0.49661	249279
1	103400314	rs2045819 - 1293270	C/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	COL11A1	Germline		NC_000001.10:g.103400314T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1283075
1	103444679	rs11164649 - 258445	G/G	Benign	Stickler Syndrome Type 2 Hearing Loss Autosomal Dominant 37 Fibrochondrogenesis 1 Not Specified Not Provided Marshall Syndrome	SNV	intron_variant	MONDO MedGen:C1858084 OMIM:604841 Orphanet:828 Orphanet:90654 MONDO MedGen:C4760307 OMIM:618533 MONDO MedGen:C3278138 OMIM:228520 Orphanet:2021 MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C0265235 OMIM:154780 Orphanet:560	COL11A1	Germline		NC_000001.10:g.103444679T>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA974356	11164649	Single Nucleotide Variant	0.69125	0.55167	0.62919	249292
1	103467615	rs2929162 - 674751	T/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	COL11A1	Germline		NC_000001.10:g.103467615C>T	Criteria Provided Single Submitter		2929162	Single Nucleotide Variant			0.92412	656896
1	103496620	rs7523441 - 674749	T/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	COL11A1	Germline		NC_000001.10:g.103496620G>T	Criteria Provided Single Submitter		7523441	Single Nucleotide Variant	0.95938	0.92536	0.94309	656905
1	109472773	rs1051868 - 291711	G/A	Benign	Not Provided Chudley-Mccullough Syndrome	SNV	SO:0001619 non-coding_transcript_variantSO:0001624 3_prime_UTR_variantSO:0001627 intron_variant	MedGen:CN517202 MONDO MedGen:C1858695 OMIM:604213 Orphanet:314597	CLCC1	Germline		NC_000001.10:g.109472773G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA10607438	1051868	Single Nucleotide Variant			0.36821	276041
1	109486196	rs338466 - 1166559	A/G	Benign	Not Provided	SNV	SO:0001619 non-coding_transcript_variantSO:0001627 intron_variantSO:0001819 synonymous_variant	MedGen:CN517202	CLCC1	Germline		NC_000001.10:g.109486196A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1153167
1	109771063	rs683182 - 1327978	C/C	Benign	Neurodevelopmental Disorder With Microcephaly Ataxia And Seizures	SNV	intron_variant	MONDO MedGen:C4540188 OMIM:617709	SARS1	Germline		NC_000001.10:g.109771063T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1318597
1	109794252	rs454107 - 1608258	C/C	Benign	Not Provided	SNV	synonymous_variant	MedGen:CN517202	CELSR2	Germline		NC_000001.10:g.109794252T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1539697
1	109795608	rs437444 - 1602100	C/C	Benign	Not Provided	SNV	synonymous_variant	MedGen:CN517202	CELSR2	Germline		NC_000001.10:g.109795608T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1633226
1	109801345	rs75237799 - 1609664	C/T	Benign	Not Provided	SNV	missense_variant	MedGen:CN517202	CELSR2	Germline		NC_000001.10:g.109801345C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1639177
1	109810544	rs2281894 - 1627347	C/A	Benign	Not Provided	SNV	synonymous_variant	MedGen:CN517202	CELSR2	Germline		NC_000001.10:g.109810544C>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1616372
1	109814880	rs4970834 - 1601365	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	CELSR2	Germline		NC_000001.10:g.109814880C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1610570
1	109815252	rs611917 - 1530644	A/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	CELSR2	Germline		NC_000001.10:g.109815252A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1635116
1	109817590	rs12740374 - 7081	G/T	Association	Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6	SNV	3_prime_UTR_variant	MedGen:C3150834 OMIM:613589	CELSR2	Germline		NC_000001.10:g.109817590G>T	No Assertion Criteria Provided	Clingen:CA118608 OMIM:602458.0001	12740374	Single Nucleotide Variant			0.19549	22120
1	109836842	rs646335 - 1222087	G/C	Benign	Not Provided	SNV	3_prime_UTR_variant	MedGen:CN517202	MYBPHL	Germline		NC_000001.10:g.109836842C>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1213649
1	109838918	rs629001 - 1253160	T/C	Benign	Not Provided	SNV	missense_variant	MedGen:CN517202	MYBPHL	Germline		NC_000001.10:g.109838918C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1243103
1	109840629	rs600806 - 1294853	A/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	MYBPHL	Germline		NC_000001.10:g.109840629G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1284649
1	110148974	rs1799875 - 259744	T/C	Benign	Not Specified Not Provided Achromatopsia 4	SNV	synonymous_variant	MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C1841721 OMIM:613856 Orphanet:49382	GNAT2	Germline		NC_000001.10:g.110148974C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA992395	1799875	Single Nucleotide Variant	0.44904	0.33062	0.37859	249359
1	110162995	rs114804066 - 1207664	A/G	Likely Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	AMPD2	Germline		NC_000001.10:g.110162995A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1196437
1	110169190	rs865774 - 1239664	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	AMPD2	Germline		NC_000001.10:g.110169190C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1228787
1	110169198	rs116681683 - 1219252	C/T	Likely Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	AMPD2	Germline		NC_000001.10:g.110169198C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1209230
1	110169957	rs524998 - 1166968	G/G	Benign	Not Provided Pontocerebellar Hypoplasia Type 9 Hereditary Spastic Paraplegia 63	SNV	intron_variant	MedGen:CN517202 MONDO MedGen:C4014354 OMIM:615809 Orphanet:369920 MONDO MedGen:C3810295 OMIM:615686 Orphanet:401805	AMPD2	Germline		NC_000001.10:g.110169957A>G	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1153173
1	110172236	rs2269340 - 1222242	T/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	AMPD2	Germline		NC_000001.10:g.110172236T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1213803
1	110173775	rs568686 - 1295672	G/T	Benign	Not Provided	SNV	3_prime_UTR_variant	MedGen:CN517202	AMPD2	Germline		NC_000001.10:g.110173775G>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1285467
1	112046557	rs1544223 - 1243184	T/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ADORA3	Germline		NC_000001.10:g.112046557C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1233956
1	112251902	rs563083 - 1240502	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	RAP1A	Germline		NC_000001.10:g.112251902C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1231326
1	112320800	rs535317 - 683551	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	KCND3	Germline		NC_000001.10:g.112320800C>T	Criteria Provided Single Submitter		535317	Single Nucleotide Variant			0.13498	656950
1	112320846	rs535183 - 1220812	T/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	KCND3	Germline		NC_000001.10:g.112320846T>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1212499
1	112329551	rs3738298 - 259600	G/T	Benign	Spinocerebellar Ataxia Type 19/22 Not Specified	SNV	intron_variant	MONDO MedGen:C1846367 OMIM:607346 Orphanet:98772 MedGen:CN169374	KCND3	Germline		NC_000001.10:g.112329551G>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1007494	3738298	Single Nucleotide Variant	0.16517	0.15231	0.19269	249363
1	112329978	rs584096 - 1270760	T/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	KCND3	Germline		NC_000001.10:g.112329978T>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1261896
1	112531507	rs12728253 - 1293605	C/A	Benign	Not Provided	SNV	SO:0001623 5_prime_UTR_variantSO:0001627 intron_variant	MedGen:CN517202	KCND3	Germline		NC_000001.10:g.112531507C>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1283409
1	113455099	rs7169 - 291831	A/G	Benign	Exercise-Induced Hyperinsulinism	SNV	3_prime_UTR_variant	MONDO MedGen:C1864902 OMIM:610021 Orphanet:165991	SLC16A1	Germline		NC_000001.10:g.113455099G>A	Criteria Provided Single Submitter	Clingen:CA10607600	7169	Single Nucleotide Variant			0.67552	276277
1	113456546	rs1049434 - 130315	T/A	Benign	Ketoacidosis Due To Monocarboxylate Transporter-1 Deficiency Not Specified Not Provided Metabolic Myopathy Due To Lactate Transporter Defect Exercise-Induced Hyperinsulinism	SNV	missense_variant	MONDO MedGen:C4015186 OMIM:616095 Orphanet:438075 MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C1855577 OMIM:245340 Orphanet:171690 MONDO MedGen:C1864902 OMIM:610021 Orphanet:165991	SLC16A1	Germline		NC_000001.10:g.113456546A>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA155208 Uniprotkb:P53985#VAR 010436	1049434	Single Nucleotide Variant	0.59721	0.66623	0.67672	135762
1	113657092	rs1216793 - 1300109	C/C	Benign	Urofacial Syndrome 2	SNV	synonymous_variant	MONDO MedGen:C3554520 OMIM:615112 Orphanet:2704	LRIG2	Germline		NC_000001.10:g.113657092A>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1290273
1	114415368	rs2488457 - 8910	C/G	Risk Factor	Diabetes Mellitus Insulin-Dependent Susceptibility To	SNV			PTPN22	Germline		NC_000001.10:g.114415368G>C	No Assertion Criteria Provided	Clingen:CA15093831 OMIM:600716.0002	2488457	Single Nucleotide Variant			0.74701	23949
1	114438951	rs1217401 - 157718	A/G	Benign	Inborn Genetic Diseases Not Specified Hereditary Spastic Paraplegia Hereditary Spastic Paraplegia 47	SNV	missense_variant	MeSH:D030342 MedGen:C0950123 MedGen:CN169374 MONDO MedGen:C0037773 OMIM:PS303350 Orphanet:685 MONDO MedGen:C3279738 OMIM:614066 Orphanet:280763	AP4B1	Germline		NC_000001.10:g.114438951A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA171108 Uniprotkb:Q9Y6B7#VAR 030804	1217401	Single Nucleotide Variant	0.31864	0.43795	0.37700	167566
1	114447914	rs971173 - 1259443	G/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	DCLRE1B	Germline		NC_000001.10:g.114447914G>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1250206
1	115218413	rs2070986 - 1230518	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	AMPD1	Germline		NC_000001.10:g.115218413G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1219223
1	115222434	rs761755 - 1292879	A/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	AMPD1	Germline		NC_000001.10:g.115222434G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1282685
1	115256669	rs969273 - 1231751	A/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	NRAS	Germline		NC_000001.10:g.115256669G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1220422
1	115575715	rs11102875 - 1289439	A/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	TSHB	Germline		NC_000001.10:g.115575715A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1279270
1	115576023	rs10776792 - 256640	G/G	Benign	Not Specified Congenital Hypothyroidism Isolated Thyroid-Stimulating Hormone Deficiency Not Provided	SNV	missense_variant	MedGen:CN169374 Human_Phenotype_Ontology:HP:0000851 MONDO MedGen:C0010308 Orphanet:442 MONDO MedGen:C0271789 OMIM:275100 Orphanet:90674 MedGen:CN517202	TSHB	Germline		NC_000001.10:g.115576023A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1022517 Uniprotkb:P01222#VAR 054769	10776792	Single Nucleotide Variant	0.97066	0.97524	0.98363	249367
1	115881055	rs11102930 - 667672	G/A	Benign	Not Provided	SNV		MedGen:CN517202	NGF	Germline		NC_000001.10:g.115881055G>A	Criteria Provided Single Submitter		11102930	Single Nucleotide Variant			0.46805	656988
1	116226459	rs12144356 - 1236883	T/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	VANGL1	Germline		NC_000001.10:g.116226459C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1227298
1	116234313	rs3811012 - 292020	G/A	Benign	Sacral Defect With Anterior Meningocele Neural Tube Defect Not Provided	SNV	3_prime_UTR_variant	MedGen:C1838568 OMIM:600145 Human_Phenotype_Ontology:HP:0045005 MONDO MedGen:C0027794 OMIM:182940 Orphanet:3388 Orphanet:823 MedGen:CN517202	VANGL1	Germline		NC_000001.10:g.116234313A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA10607539	3811012	Single Nucleotide Variant			0.73942	276202
1	116234505	rs6700610 - 292025	G/A	Benign	Sacral Defect With Anterior Meningocele Neural Tube Defect	SNV	3_prime_UTR_variant	MedGen:C1838568 OMIM:600145 Human_Phenotype_Ontology:HP:0045005 MONDO MedGen:C0027794 OMIM:182940 Orphanet:3388 Orphanet:823	VANGL1	Germline		NC_000001.10:g.116234505A>G	Criteria Provided Single Submitter	Clingen:CA10607638	6700610	Single Nucleotide Variant			0.73942	276336
1	116239633	rs4348723 - 292093	T/G	Benign/Likely Benign	Sacral Defect With Anterior Meningocele Neural Tube Defect Catecholaminergic Polymorphic Ventricular Tachycardia	SNV	3_prime_UTR_variant	MedGen:C1838568 OMIM:600145 Human_Phenotype_Ontology:HP:0045005 MONDO MedGen:C0027794 OMIM:182940 Orphanet:3388 Orphanet:823 MONDO MedGen:C5574922 OMIM:PS604772 Orphanet:3286	CASQ2	Germline		NC_000001.10:g.116239633T>G	Criteria Provided Single Submitter	Clingen:CA10607704	4348723	Single Nucleotide Variant			0.27456	276435
1	116240026	rs6428677 - 292102	G/A	Benign/Likely Benign	Sacral Defect With Anterior Meningocele Neural Tube Defect Catecholaminergic Polymorphic Ventricular Tachycardia	SNV	3_prime_UTR_variant	MedGen:C1838568 OMIM:600145 Human_Phenotype_Ontology:HP:0045005 MONDO MedGen:C0027794 OMIM:182940 Orphanet:3388 Orphanet:823 MONDO MedGen:C5574922 OMIM:PS604772 Orphanet:3286	CASQ2	Germline		NC_000001.10:g.116240026G>A	Criteria Provided Single Submitter	Clingen:CA10607731	6428677	Single Nucleotide Variant			0.27456	276479
1	116243380	rs7521023 - 292122	A/G	Benign/Likely Benign	Catecholaminergic Polymorphic Ventricular Tachycardia Catecholaminergic Polymorphic Ventricular Tachycardia 2 Neural Tube Defect Caudal Regression Sequence	SNV	3_prime_UTR_variant	MONDO MedGen:C5574922 OMIM:PS604772 Orphanet:3286 MONDO MedGen:C2677794 OMIM:611938 Orphanet:3286 Human_Phenotype_Ontology:HP:0045005 MONDO MedGen:C0027794 OMIM:182940 Orphanet:3388 Orphanet:823 MONDO MedGen:C0300948 Orphanet:3027	CASQ2	Germline		NC_000001.10:g.116243380G>A	Criteria Provided Single Submitter	Clingen:CA10607596	7521023	Single Nucleotide Variant			0.70088	276272
1	116247790	rs3811003 - 257653	G/A	Benign	Not Specified Not Provided	SNV	intron_variant	MedGen:CN169374 MedGen:CN517202	CASQ2	Germline		NC_000001.10:g.116247790G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1023685	3811003	Single Nucleotide Variant	0.34862	0.40120	0.42871	249368
1	116260604	rs2997742 - 672065	A/A	Benign	Not Provided Catecholaminergic Polymorphic Ventricular Tachycardia 2	SNV	intron_variant	MedGen:CN517202 MONDO MedGen:C2677794 OMIM:611938 Orphanet:3286	CASQ2	Germline		NC_000001.10:g.116260604G>A	Criteria Provided Multiple Submitters No Conflicts		2997742	Single Nucleotide Variant			0.63059	656948
1	116283343	rs9428083 - 44163	G/G	Benign	Not Specified Not Provided Catecholaminergic Polymorphic Ventricular Tachycardia 2 Catecholaminergic Polymorphic Ventricular Tachycardia 1 Catecholaminergic Polymorphic Ventricular Tachycardia	SNV	intron_variant	MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C2677794 OMIM:611938 Orphanet:3286 MONDO MedGen:C1631597 OMIM:604772 Orphanet:3286 MONDO MedGen:C5574922 OMIM:PS604772 Orphanet:3286	CASQ2	Germline		NC_000001.10:g.116283343A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA133703	9428083	Single Nucleotide Variant	0.78717	0.70844	0.64357	53331
1	116283526	rs7538337 - 671741	A/A	Benign	Not Provided Catecholaminergic Polymorphic Ventricular Tachycardia 2	SNV	intron_variant	MedGen:CN517202 MONDO MedGen:C2677794 OMIM:611938 Orphanet:3286	CASQ2	Germline		NC_000001.10:g.116283526G>A	Criteria Provided Multiple Submitters No Conflicts		7538337	Single Nucleotide Variant			0.64357	656994
1	116283699	rs7551633 - 678455	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	CASQ2	Germline		NC_000001.10:g.116283699A>G	Criteria Provided Single Submitter		7551633	Single Nucleotide Variant			0.64357	656996
1	116310937	rs10801999 - 44162	C/T	Benign/Likely Benign	Cardiovascular Phenotype Not Specified Cardiomyopathy Catecholaminergic Polymorphic Ventricular Tachycardia 1 Catecholaminergic Polymorphic Ventricular Tachycardia 2	SNV	missense_variant	MedGen:CN230736 MedGen:CN169374 Human_Phenotype_Ontology:HP:0001638 MONDO MedGen:C0878544 Orphanet:167848 MONDO MedGen:C1631597 OMIM:604772 Orphanet:3286 MONDO MedGen:C2677794 OMIM:611938 Orphanet:3286	CASQ2	Germline		NC_000001.10:g.116310937C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA282349 Uniprotkb:O14958#VAR 023693	10801999	Single Nucleotide Variant	0.02506	0.00146	0.03035	53330
1	116310967	rs4074536 - 44160	C/C	Benign	Cardiovascular Phenotype Not Specified Not Provided Catecholaminergic Polymorphic Ventricular Tachycardia 1 Catecholaminergic Polymorphic Ventricular Tachycardia 2 Catecholaminergic Polymorphic Ventricular Tachycardia	SNV	missense_variant	MedGen:CN230736 MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C1631597 OMIM:604772 Orphanet:3286 MONDO MedGen:C2677794 OMIM:611938 Orphanet:3286 MONDO MedGen:C5574922 OMIM:PS604772 Orphanet:3286	CASQ2	Germline		NC_000001.10:g.116310967T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA133700 Uniprotkb:O14958#VAR 023692	4074536	Single Nucleotide Variant	0.32650	0.33938	0.40116	53328
1	119469188	rs10494217 - 1240908	T/T	Benign	Not Provided	SNV	missense_variant	MedGen:CN517202	TBX15	Germline		NC_000001.10:g.119469188G>T	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1230446
1	119474772	rs17185933 - 1273948	A/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	TBX15	Germline		NC_000001.10:g.119474772G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1263413
1	119619448	rs12045138 - 1224733	G/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	WARS2	Germline		NC_000001.10:g.119619448G>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1217287
1	120285546	rs543703 - 292321	A/G	Benign	Not Provided PHGDH Deficiency Neu-Laxova Syndrome 1 Not Specified	SNV	synonymous_variant	MedGen:CN517202 MONDO MedGen:C1866174 OMIM:601815 Orphanet:79351 MONDO MedGen:C4551478 OMIM:256520 Orphanet:2671 Orphanet:583607 MedGen:CN169374	PHGDH	Germline		NC_000001.10:g.120285546G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1037433	543703	Single Nucleotide Variant	0.69241	0.70606	0.72224	276452
1	120293367	rs667246 - 1263157	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	HMGCS2	Germline		NC_000001.10:g.120293367T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1251776
1	120301432	rs1441010 - 671989	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	HMGCS2	Germline		NC_000001.10:g.120301432A>G	Criteria Provided Single Submitter		1441010	Single Nucleotide Variant			0.55272	657053
1	120463230	i709724 - 1297817	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	NOTCH2	Germline		NC_000001.10:g.120463230C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1287604
1	120464165	rs835573 - 1239830	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	NOTCH2	Germline		NC_000001.10:g.120464165C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1228952
1	120466108	rs2793830 - 1230128	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	NOTCH2	Germline		NC_000001.10:g.120466108G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1220094
1	120480394	rs2453057 - 1222444	C/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	NOTCH2	Germline		NC_000001.10:g.120480394T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1212842
1	120508803	rs2493410 - 1265252	T/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	NOTCH2	Germline		NC_000001.10:g.120508803T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1254720
1	145507253	rs4970850 - 1286162	G/G	Benign	Not Provided	SNV		MedGen:CN517202	RBM8A	Germline		NC_000001.10:g.145507253A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1276001
1	145517561	rs4471211 - 1229491	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	PEX11B	Germline		NC_000001.10:g.145517561C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1220746
1	146767353	rs6538 - 1258999	A/A	Benign	Not Provided	SNV	SO:0001619 non-coding_transcript_variantSO:0001624 3_prime_UTR_variant	MedGen:CN517202	CHD1L	Germline		NC_000001.10:g.146767353G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1247210
1	147232740	rs10465885 - 1167239	T/C	Benign	Atrial Standstill 1 Atrial Fibrillation Familial 11	sequence_alteration	intron_variant	MONDO MedGen:C4551959 OMIM:108770 Orphanet:1344 MONDO MedGen:C3279693 OMIM:614049	GJA5	Germline		NC_000001.10:g.147232740C>T	Criteria Provided Single Submitter			Variation				1153237
1	147381444	rs1532399 - 1282780	C/C	Benign	Not Provided	SNV	genic_downstream_transcript_variant	MedGen:CN517202	GJA8	Germline		NC_000001.10:g.147381444A>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1271349
1	147381558	rs2132397 - 1227765	A/A	Benign	Not Provided	SNV	genic_downstream_transcript_variant	MedGen:CN517202	GJA8	Germline		NC_000001.10:g.147381558G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1215157
1	150039207	rs3754047 - 1231785	C/A	Benign	Not Provided	SNV		MedGen:CN517202	VPS45	Germline		NC_000001.10:g.150039207C>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1220456
1	150527354	rs9659073 - 1241457	A/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ADAMTSL4	Germline		NC_000001.10:g.150527354G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1233514
1	150531008	rs10888382 - 261076	C/C	Benign	Not Specified Ectopia Lentis Et Pupillae Not Provided Ectopia Lentis 2 Isolated Autosomal Recessive	SNV	synonymous_variant	MedGen:CN169374 MONDO MedGen:C1644196 OMIM:225200 Orphanet:1885 MedGen:CN517202 MONDO MedGen:C3541474 OMIM:225100 Orphanet:1885	ADAMTSL4	Germline		NC_000001.10:g.150531008T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1078680	10888382	Single Nucleotide Variant	0.90669	0.86752	0.81450	249390
1	150531050	rs10749657 - 261077	A/A	Benign	Not Specified Ectopia Lentis Et Pupillae Ectopia Lentis 2 Isolated Autosomal Recessive Not Provided	SNV	synonymous_variant	MedGen:CN169374 MONDO MedGen:C1644196 OMIM:225200 Orphanet:1885 MONDO MedGen:C3541474 OMIM:225100 Orphanet:1885 MedGen:CN517202	ADAMTSL4	Germline		NC_000001.10:g.150531050G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1078698	10749657	Single Nucleotide Variant	0.86757	0.84353	0.87840	249391
1	150531380	rs11204664 - 1188860	C/C	Benign	Not Provided Ectopia Lentis Et Pupillae	SNV	intron_variant	MedGen:CN517202 MONDO MedGen:C1644196 OMIM:225200 Orphanet:1885	ADAMTSL4	Germline		NC_000001.10:g.150531380T>C	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1178849
1	150771703	rs10788796 - 1166561	C/C	Benign	Not Provided Pyknodysostosis	SNV	synonymous_variant	MedGen:CN517202 MONDO MedGen:C0238402 OMIM:265800 Orphanet:763	CTSK	Germline		NC_000001.10:g.150771703T>C	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1153247
1	151006539	rs3738476 - 2112788	A/A	Benign	Not Provided	SNV	SO:0001619 non-coding_transcript_variantSO:0001819 synonymous_variant	MedGen:CN517202	PRUNE1	Germline		NC_000001.10:g.151006539C>A	Criteria Provided Single Submitter			Single Nucleotide Variant				2168070
1	151263782	rs10788803 - 1297992	G/G	Benign	Not Provided	SNV	3_prime_UTR_variant	MedGen:CN517202	ZNF687	Germline		NC_000001.10:g.151263782A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1287778
1	151313774	rs7552906 - 292600	G/G	Benign	MHC Class II Deficiency	SNV	3_prime_UTR_variant	MONDO MedGen:C2931418 OMIM:209920 Orphanet:572	RFX5	Germline		NC_000001.10:g.151313774A>G	Criteria Provided Single Submitter	Clingen:CA10607832	7552906	Single Nucleotide Variant			0.62800	276632
1	151314379	rs1752387 - 292605	C/C	Benign	MHC Class II Deficiency	SNV	3_prime_UTR_variant	MONDO MedGen:C2931418 OMIM:209920 Orphanet:572	RFX5	Germline		NC_000001.10:g.151314379T>C	Criteria Provided Single Submitter	Clingen:CA10607682	1752387	Single Nucleotide Variant			0.76438	276401
1	151372138	rs7172 - 1165733	A/A	Benign	Proteasome-Associated Autoinflammatory Syndrome 3 Not Provided	SNV	synonymous_variant	MONDO MedGen:C4747850 OMIM:617591 MedGen:CN517202	PSMB4	Germline		NC_000001.10:g.151372138G>A	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1153250
1	151384711	rs1887545 - 1228013	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	POGZ	Germline		NC_000001.10:g.151384711A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1217979
1	151395782	rs2274533 - 1270984	C/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	POGZ	Germline		NC_000001.10:g.151395782T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1260836
1	151402045	rs6587577 - 1246056	G/G	Benign	Not Provided Intellectual Disability-Microcephaly-Strabismus-Behavioral Abnormalities Syndrome	SNV	intron_variant	MedGen:CN517202 MONDO MedGen:C4225351 OMIM:616364 Orphanet:468678	POGZ	Germline		NC_000001.10:g.151402045A>G	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1237299
1	151413790	rs4528122 - 1283258	T/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	POGZ	Germline		NC_000001.10:g.151413790C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1270967
1	152281317	rs71626704 - 1251416	G/T	Benign	Not Provided	SNV	missense_variant	MedGen:CN517202	FLG	Germline		NC_000001.10:g.152281317G>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1241762
1	152282794	rs12750081 - 1293919	G/A	Benign	Not Provided	SNV	missense_variant	MedGen:CN517202	FLG	Germline		NC_000001.10:g.152282794G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1283720
1	152285930	rs11584340 - 666623	G/A	Benign	Not Specified Not Provided	SNV	missense_variant	MedGen:CN169374 MedGen:CN517202	FLG	Germline		NC_000001.10:g.152285930G>A	Criteria Provided Multiple Submitters No Conflicts		11584340	Single Nucleotide Variant	0.26126	0.15831	0.34465	654171
1	152286126	rs11582620 - 1259919	A/G	Benign	Not Specified Not Provided	SNV	SO:0001619 non-coding_transcript_variantSO:0001819 synonymous_variant	MedGen:CN169374 MedGen:CN517202	FLG	Germline		NC_000001.10:g.152286126A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1249404
1	152331533	rs2275264 - 1228729	T/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	FLG-AS1	Germline		NC_000001.10:g.152331533T>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1218733
1	153801098	rs6690242 - 1277412	T/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	GATAD2B	Germline		NC_000001.10:g.153801098C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1265992
1	154136591	rs12063890 - 292649	C/A	Benign	Congenital Myopathy With Fiber Type Disproportion Nemaline Myopathy	SNV	SO:0001624 3_prime_UTR_variantSO:0001627 intron_variant	MONDO MedGen:C0546264 Orphanet:2020 MONDO MedGen:C0206157 OMIM:PS161800 Orphanet:607	TPM3	Germline		NC_000001.10:g.154136591C>A	Criteria Provided Single Submitter	Clingen:CA10607701	12063890	Single Nucleotide Variant			0.17532	276430
1	154141908	rs4845364 - 262627	G/A	Benign	Not Provided Not Specified Congenital Myopathy 4B Autosomal Recessive Congenital Myopathy With Fiber Type Disproportion	SNV	intron_variant	MedGen:CN517202 MedGen:CN169374 MONDO MedGen:C1836448 OMIM:609284 Orphanet:171433 Orphanet:171439 Orphanet:171881 MONDO MedGen:C0546264 Orphanet:2020	TPM3	Germline		NC_000001.10:g.154141908A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1125520	4845364	Single Nucleotide Variant	0.60767	0.60218	0.73223	249393
1	154245142	rs11265425 - 292700	T/G	Benign	Kostmann Syndrome Not Provided	SNV	5_prime_UTR_variant	MONDO MedGen:C5235141 OMIM:610738 Orphanet:99749 MedGen:CN517202	HAX1	Germline		NC_000001.10:g.154245142T>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA10608204	11265425	Single Nucleotide Variant		0.21266		277283
1	154422067	rs4845625 - 1164918	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	IL6R	Germline		NC_000001.10:g.154422067T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1153265
1	154426970	rs8192284 - 14660	A/C	Benign	Not Provided Interleukin 6 Serum Level Of Quantitative Trait Locus Soluble Interleukin-6 Receptor Serum Level Of Quantitative Trait Locus	SNV	SO:0001583 missense_variantSO:0001627 intron_variant	MedGen:CN517202 MedGen:C3540094 OMIM:614752 MedGen:C3553493 OMIM:614689	IL6R	Germline		NC_000001.10:g.154426970A>C	Criteria Provided Single Submitter	Clingen:CA124179 OMIM:147880.0001 Uniprotkb:P08887#VAR 021995	2228145	Single Nucleotide Variant	0.37562		0.29313	29699
1	154555733	rs9616 - 292721	A/T	Benign	Symmetrical Dyschromatosis Of Extremities	SNV	3_prime_UTR_variant	MONDO MedGen:C0406775 OMIM:127400 Orphanet:41	ADAR	Germline		NC_000001.10:g.154555733A>T	Criteria Provided Single Submitter	Clingen:CA10607759	9616	Single Nucleotide Variant			0.19469	276511
1	154556266	rs1127314 - 292729	A/A	Benign	Symmetrical Dyschromatosis Of Extremities	SNV	3_prime_UTR_variant	MONDO MedGen:C0406775 OMIM:127400 Orphanet:41	ADAR	Germline		NC_000001.10:g.154556266G>A	Criteria Provided Single Submitter	Clingen:CA10608281	1127314	Single Nucleotide Variant			0.59784	277418
1	154556425	rs1127313 - 292734	A/A	Benign	Symmetrical Dyschromatosis Of Extremities	SNV	3_prime_UTR_variant	MONDO MedGen:C0406775 OMIM:127400 Orphanet:41	ADAR	Germline		NC_000001.10:g.154556425G>A	Criteria Provided Single Submitter	Clingen:CA10607901	1127313	Single Nucleotide Variant			0.39497	276770
1	154556663	rs1127311 - 292740	A/A	Benign	Symmetrical Dyschromatosis Of Extremities	SNV	3_prime_UTR_variant	MONDO MedGen:C0406775 OMIM:127400 Orphanet:41	ADAR	Germline		NC_000001.10:g.154556663G>A	Criteria Provided Single Submitter	Clingen:CA10608295	1127311	Single Nucleotide Variant			0.39617	277437
1	154573967	rs2229857 - 195112	C/C	Benign	Aicardi-Goutieres Syndrome 6 Symmetrical Dyschromatosis Of Extremities Not Provided Not Specified	SNV	missense_variant	MONDO MedGen:C3539013 OMIM:615010 Orphanet:51 MONDO MedGen:C0406775 OMIM:127400 Orphanet:41 MedGen:CN517202 MedGen:CN169374	ADAR	Germline		NC_000001.10:g.154573967T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA201568 Uniprotkb:P55265#VAR 017240	2229857	Single Nucleotide Variant	0.69561	0.60787	0.62260	192273
1	154574820	rs1466731 - 500335	C/C	Benign	Symmetrical Dyschromatosis Of Extremities Aicardi-Goutieres Syndrome 6 Not Specified	SNV	SO:0001583 missense_variantSO:0001623 5_prime_UTR_variantSO:0001627 intron_variant	MONDO MedGen:C0406775 OMIM:127400 Orphanet:41 MONDO MedGen:C3539013 OMIM:615010 Orphanet:51 MedGen:CN169374	ADAR	Germline		NC_000001.10:g.154574820T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1131722	1466731	Single Nucleotide Variant	0.99876	0.99569	0.99621	491759
1	154744852	rs1131820 - 403002	G/G	Benign	Zimmermann-Laband Syndrome 3 Not Specified	SNV	synonymous_variant	MONDO MedGen:C5231447 OMIM:618658 MedGen:CN169374	KCNN3	Germline		NC_000001.10:g.154744852A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1132141	1131820	Single Nucleotide Variant	0.76157	0.70514	0.77915	389312
1	155106227	rs4745 - 1268289	T/T	Benign	Not Provided	SNV	missense_variant	MedGen:CN517202	EFNA1	Germline		NC_000001.10:g.155106227A>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1258199
1	155928242	rs2886069 - 1192412	T/T	Benign	Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	SNV	intron_variant	MONDO MedGen:C4479613 OMIM:617523	ARHGEF2	Germline		NC_000001.10:g.155928242C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1182338
1	156011444	rs2297792 - 674310	T/C	Benign	Not Provided	SNV	missense_variant	MedGen:CN517202	UBQLN4	Germline		NC_000001.10:g.156011444T>C	Criteria Provided Single Submitter		2297792	Single Nucleotide Variant	0.58016	0.55340	0.43311	655043
1	156024373	rs3754293 - 1233192	A/G	Benign	Not Provided	SNV		MedGen:CN517202	LAMTOR2	Germline		NC_000001.10:g.156024373A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1222315
1	156096376	rs6657367 - 675370	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	LMNA	Germline		NC_000001.10:g.156096376G>A	Criteria Provided Single Submitter		6657367	Single Nucleotide Variant	0.07766	0.05063	0.06150	657101
1	156096417	rs594028 - 672779	T/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	LMNA	Germline		NC_000001.10:g.156096417T>G	Criteria Provided Single Submitter		594028	Single Nucleotide Variant	0.18636	0.21192	0.23003	657096
1	156099669	rs513043 - 192190	T/G	Benign	Not Specified Hutchinson-Gilford Syndrome	SNV	intron_variant	MedGen:CN169374 MONDO MedGen:C0033300 OMIM:176670 Orphanet:740	LMNA	Unknown		NC_000001.10:g.156099669T>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA017992	513043	Single Nucleotide Variant	0.16301	0.18754	0.19768	189381
1	156100739	rs577492 - 672782	T/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	LMNA	Germline		NC_000001.10:g.156100739T>C	Criteria Provided Single Submitter		577492	Single Nucleotide Variant			0.23083	657111
1	156104375	rs11264442 - 675371	G/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	LMNA	Germline		NC_000001.10:g.156104375G>T	Criteria Provided Single Submitter		11264442	Single Nucleotide Variant			0.07748	657113
1	156104392	rs11264443 - 675372	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	LMNA	Germline		NC_000001.10:g.156104392C>T	Criteria Provided Single Submitter		11264443	Single Nucleotide Variant			0.07508	657118
1	156105028	rs538089 - 48088	T/C	Benign	Lipoatrophy With Diabetes Hepatic Steatosis Hypertrophic Cardiomyopathy And Leukomelanodermic Papules Limb-Girdle Muscular Dystrophy Recessive Cardiovascular Phenotype Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease Type 2 Not Specified Not Provided Emery-Dreifuss Muscular Dystrophy Cardiomyopathy Benign Scapuloperoneal Muscular Dystrophy With Cardiomyopathy Mandibuloacral Dysplasia With Type A Lipodystrophy Familial Partial Lipodystrophy Dunnigan Type Dilated Cardiomyopathy 1A Congenital Muscular Dystrophy Due To LMNA Mutation Hutchinson-Gilford Syndrome Charcot-Marie-Tooth Disease Type 2B1 Primary Dilated Cardiomyopathy Lethal Tight Skin Contracture Syndrome	SNV	synonymous_variant	MedGen:CN239184 MedGen:CN239352 MedGen:CN230736 MONDO MedGen:C0007959 OMIM:PS118220 Orphanet:166 MONDO MedGen:C0270914 Orphanet:64746 MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C0410189 OMIM:PS310300 Orphanet:261 Human_Phenotype_Ontology:HP:0001638 MONDO MedGen:C0878544 Orphanet:167848 MONDO MedGen:C0410190 OMIM:181350 Orphanet:261 Orphanet:264 MONDO MedGen:C5399785 OMIM:248370 Orphanet:2457 Orphanet:90153 MONDO MedGen:C1720860 OMIM:151660 Orphanet:2348 MONDO MedGen:C1449563 OMIM:115200 Orphanet:300751 MONDO MedGen:C2750785 OMIM:613205 Orphanet:157973 MONDO MedGen:C0033300 OMIM:176670 Orphanet:740 MONDO MedGen:C1854154 OMIM:605588 Orphanet:98856 EFO:EFO_0000407 Human_Phenotype_Ontology:HP:0001644 Human_Phenotype_Ontology:HP:0001725 Human_Phenotype_Ontology:HP:0005159 Human_Phenotype_Ontology:HP:0200130 MONDO MeSH:D002311 MedGen:C0007193 Orphanet:217604 MONDO MedGen:C5676878 OMIM:275210 Orphanet:1662	LMNA	Germline		NC_000001.10:g.156105028T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA018770	538089	Single Nucleotide Variant	0.10943	0.19783	0.19309	57252
1	156105337	rs2485664 - 683061	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	LMNA	Germline		NC_000001.10:g.156105337C>T	Criteria Provided Single Submitter		2485664	Single Nucleotide Variant			0.19289	657105
1	156105928	rs534807 - 36474	G/A	Benign/Likely Benign	Charcot-Marie-Tooth Disease Not Specified Charcot-Marie-Tooth Disease Type 2 Not Provided Primary Dilated Cardiomyopathy	SNV	intron_variant	MONDO MedGen:C0007959 OMIM:PS118220 Orphanet:166 MedGen:CN169374 MONDO MedGen:C0270914 Orphanet:64746 MedGen:CN517202 EFO:EFO_0000407 Human_Phenotype_Ontology:HP:0001644 Human_Phenotype_Ontology:HP:0001725 Human_Phenotype_Ontology:HP:0005159 Human_Phenotype_Ontology:HP:0200130 MONDO MeSH:D002311 MedGen:C0007193 Orphanet:217604	LMNA	Germline		NC_000001.10:g.156105928G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA016706	534807	Single Nucleotide Variant	0.10765	0.19752	0.19229	45136
1	156106185	rs505058 - 48037	T/C	Benign	Lipoatrophy With Diabetes Hepatic Steatosis Hypertrophic Cardiomyopathy And Leukomelanodermic Papules Limb-Girdle Muscular Dystrophy Recessive Cardiovascular Phenotype Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease Type 2 Not Provided Emery-Dreifuss Muscular Dystrophy Not Specified Cardiomyopathy Benign Scapuloperoneal Muscular Dystrophy With Cardiomyopathy Dilated Cardiomyopathy 1A Familial Partial Lipodystrophy Dunnigan Type Congenital Muscular Dystrophy Due To LMNA Mutation Hutchinson-Gilford Syndrome Mandibuloacral Dysplasia With Type A Lipodystrophy Charcot-Marie-Tooth Disease Type 2B1 Lethal Tight Skin Contracture Syndrome Primary Dilated Cardiomyopathy	SNV	synonymous_variant	MedGen:CN239184 MedGen:CN239352 MedGen:CN230736 MONDO MedGen:C0007959 OMIM:PS118220 Orphanet:166 MONDO MedGen:C0270914 Orphanet:64746 MedGen:CN517202 MONDO MedGen:C0410189 OMIM:PS310300 Orphanet:261 MedGen:CN169374 Human_Phenotype_Ontology:HP:0001638 MONDO MedGen:C0878544 Orphanet:167848 MONDO MedGen:C0410190 OMIM:181350 Orphanet:261 Orphanet:264 MONDO MedGen:C1449563 OMIM:115200 Orphanet:300751 MONDO MedGen:C1720860 OMIM:151660 Orphanet:2348 MONDO MedGen:C2750785 OMIM:613205 Orphanet:157973 MONDO MedGen:C0033300 OMIM:176670 Orphanet:740 MONDO MedGen:C5399785 OMIM:248370 Orphanet:2457 Orphanet:90153 MONDO MedGen:C1854154 OMIM:605588 Orphanet:98856 MONDO MedGen:C5676878 OMIM:275210 Orphanet:1662 EFO:EFO_0000407 Human_Phenotype_Ontology:HP:0001644 Human_Phenotype_Ontology:HP:0001725 Human_Phenotype_Ontology:HP:0005159 Human_Phenotype_Ontology:HP:0200130 MONDO MeSH:D002311 MedGen:C0007193 Orphanet:217604	LMNA	Germline		NC_000001.10:g.156106185T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA017015	505058	Single Nucleotide Variant		0.25412	0.24920	57201
1	156106863	rs553016 - 66834	C/T	Benign	Not Provided Not Specified	SNV	intron_variant	MedGen:CN517202 MedGen:CN169374	LMNA	Germline		NC_000001.10:g.156106863C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA017334	553016	Single Nucleotide Variant	0.10637	0.18730	0.18231	77731
1	156108019	rs520973 - 683615	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	LMNA	Germline		NC_000001.10:g.156108019C>T	Criteria Provided Single Submitter		520973	Single Nucleotide Variant			0.18730	657114
1	156108048	rs520910 - 683062	T/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	LMNA	Germline		NC_000001.10:g.156108048T>C	Criteria Provided Single Submitter		520910	Single Nucleotide Variant			0.24481	657123
1	156108976	rs7339 - 66756	G/C	Benign	Not Specified Not Provided	SNV	SO:0001624 3_prime_UTR_variantSO:0001627 intron_variant	MedGen:CN169374 MedGen:CN517202	LMNA	Germline		NC_000001.10:g.156108976G>C	Criteria Provided Single Submitter	Clingen:CA014916	7339	Single Nucleotide Variant		0.17674	0.18530	77653
1	156128337	rs10908489 - 1235089	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	SEMA4A	Germline		NC_000001.10:g.156128337G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1222918
1	156213257	rs759330 - 126864	A/A	Association	Calcium Oxalate Nephrolithiasis	SNV	SO:0001619 non-coding_transcript_variantSO:0001624 3_prime_UTR_variant	Human_Phenotype_Ontology:HP:0008672 Human_Phenotype_Ontology:HP:0008700 Human_Phenotype_Ontology:HP:0008725 MONDO MedGen:C1833683 OMIM:167030	BGLAP	Somatic		NC_000001.10:g.156213257G>A	No Assertion Criteria Provided	Clingen:CA163354	759330	Single Nucleotide Variant			0.77296	132377
1	156526387	rs11264498 - 1183536	C/G	Benign	Not Provided	SNV	missense_variant	MedGen:CN517202	IQGAP3	Germline		NC_000001.10:g.156526387C>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1170596
1	156563813	rs6668178 - 1167831	A/A	Benign	Encephalopathy Progressive Early-Onset With Brain Edema And/Or Leukoencephalopathy 1 Not Provided	SNV	synonymous_variant	MONDO MedGen:C4310675 OMIM:617186 Orphanet:555407 MedGen:CN517202	NAXE	Germline		NC_000001.10:g.156563813G>A	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1153279
1	156640156	rs3748570 - 1238056	A/G	Benign	Not Provided	SNV	missense_variant	MedGen:CN517202	NES	Germline		NC_000001.10:g.156640156G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1228472
1	156785356	rs2150906 - 667736	C/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	NTRK1	Germline		NC_000001.10:g.156785356T>C	Criteria Provided Single Submitter		2150906	Single Nucleotide Variant			0.82328	657124
1	156785617	rs1800601 - 380853	A/A	Benign	Not Specified Hereditary Insensitivity To Pain With Anhidrosis	SNV	SO:0001623 5_prime_UTR_variantSO:0001627 intron_variant	MedGen:CN169374 MONDO MedGen:C0020074 OMIM:256800 Orphanet:642	NTRK1	Germline		NC_000001.10:g.156785617G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1167403	1800601	Single Nucleotide Variant	0.66741	0.61772	0.63698	364541
1	156838141	rs1800879 - 667738	C/C	Benign	Not Provided Hereditary Insensitivity To Pain With Anhidrosis	SNV	intron_variant	MedGen:CN517202 MONDO MedGen:C0020074 OMIM:256800 Orphanet:642	NTRK1	Germline		NC_000001.10:g.156838141T>C	Criteria Provided Multiple Submitters No Conflicts		1800879	Single Nucleotide Variant			0.71166	657082
1	156846233	rs6334 - 292889	A/A	Benign	Not Specified Not Provided Hereditary Insensitivity To Pain With Anhidrosis	SNV	synonymous_variant	MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C0020074 OMIM:256800 Orphanet:642	NTRK1	Germline		NC_000001.10:g.156846233G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1169435	6334	Single Nucleotide Variant		0.19360	0.21286	276641
1	158580778	rs12128275 - 292922	G/G	Benign	Not Provided Elliptocytosis 2 Pyropoikilocytosis Hereditary Hereditary Spherocytosis Type 3	SNV	3_prime_UTR_variant	MedGen:CN517202 MONDO MedGen:C1851741 OMIM:130600 Orphanet:288 Human_Phenotype_Ontology:HP:0004805 Human_Phenotype_Ontology:HP:0004839 MONDO MedGen:C0520739 OMIM:266140 Orphanet:98867 MONDO MedGen:C2678338 OMIM:270970 Orphanet:822	SPTA1	Germline		NC_000001.10:g.158580778A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA10608364	12128275	Single Nucleotide Variant			0.10623	277602
1	158584091	rs952094 - 258957	G/G	Benign	Hereditary Spherocytosis Type 3 Elliptocytosis 2 Not Provided Pyropoikilocytosis Hereditary Not Specified	SNV	missense_variant	MONDO MedGen:C2678338 OMIM:270970 Orphanet:822 MONDO MedGen:C1851741 OMIM:130600 Orphanet:288 MedGen:CN517202 Human_Phenotype_Ontology:HP:0004805 Human_Phenotype_Ontology:HP:0004839 MONDO MedGen:C0520739 OMIM:266140 Orphanet:98867 MedGen:CN169374	SPTA1	Germline		NC_000001.10:g.158584091A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1181833 Uniprotkb:P02549#VAR 059201	952094	Single Nucleotide Variant	0.53735	0.50681	0.50619	249425
1	158597507	rs3737515 - 258948	C/C	Conflicting Interpretations Of Pathogenicity	Hereditary Spherocytosis Type 3 Elliptocytosis 2 Pyropoikilocytosis Hereditary Not Specified Not Provided Hemolytic Anemia	SNV	missense_variant	MONDO MedGen:C2678338 OMIM:270970 Orphanet:822 MONDO MedGen:C1851741 OMIM:130600 Orphanet:288 Human_Phenotype_Ontology:HP:0004805 Human_Phenotype_Ontology:HP:0004839 MONDO MedGen:C0520739 OMIM:266140 Orphanet:98867 MedGen:CN169374 MedGen:CN517202 Human_Phenotype_Ontology:HP:0001878 Human_Phenotype_Ontology:HP:0001910 Human_Phenotype_Ontology:HP:0004827 Human_Phenotype_Ontology:HP:0004853 Human_Phenotype_Ontology:HP:0004868 Human_Phenotype_Ontology:HP:0005503 MONDO MedGen:C0002878	SPTA1	Germline		NC_000001.10:g.158597507G>C	Criteria Provided Conflicting Interpretations	Clingen:CA1182251 Uniprotkb:P02549#VAR 001350	3737515	Single Nucleotide Variant		0.24954	0.22784	249434			Pathogenic(1)\|Benign(9)\|Likely_benign(1)
1	158606449	rs3738791 - 258945	T/T	Benign	Elliptocytosis 2 Not Specified Not Provided Hereditary Spherocytosis Type 3 Pyropoikilocytosis Hereditary	SNV	synonymous_variant	MONDO MedGen:C1851741 OMIM:130600 Orphanet:288 MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C2678338 OMIM:270970 Orphanet:822 Human_Phenotype_Ontology:HP:0004805 Human_Phenotype_Ontology:HP:0004839 MONDO MedGen:C0520739 OMIM:266140 Orphanet:98867	SPTA1	Germline		NC_000001.10:g.158606449G>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1182363	3738791	Single Nucleotide Variant	0.29800	0.33785	0.32049	249437
1	158614198	rs6702040 - 258935	T/T	Benign	Not Provided Elliptocytosis 2 Not Specified Hereditary Spherocytosis Type 3 Pyropoikilocytosis Hereditary	SNV	intron_variant	MedGen:CN517202 MONDO MedGen:C1851741 OMIM:130600 Orphanet:288 MedGen:CN169374 MONDO MedGen:C2678338 OMIM:270970 Orphanet:822 Human_Phenotype_Ontology:HP:0004805 Human_Phenotype_Ontology:HP:0004839 MONDO MedGen:C0520739 OMIM:266140 Orphanet:98867	SPTA1	Germline		NC_000001.10:g.158614198C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1182794	6702040	Single Nucleotide Variant	0.29771	0.33649	0.31969	249446
1	158618223	rs857677 - 1288829	T/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	SPTA1	Germline		NC_000001.10:g.158618223C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1278660
1	158618480	rs11265044 - 1253423	T/T	Benign	Pyropoikilocytosis Hereditary Elliptocytosis 2 Not Provided Hereditary Spherocytosis Type 3	SNV	intron_variant	Human_Phenotype_Ontology:HP:0004805 Human_Phenotype_Ontology:HP:0004839 MONDO MedGen:C0520739 OMIM:266140 Orphanet:98867 MONDO MedGen:C1851741 OMIM:130600 Orphanet:288 MedGen:CN517202 MONDO MedGen:C2678338 OMIM:270970 Orphanet:822	SPTA1	Germline		NC_000001.10:g.158618480A>T	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1243363
1	158619728	rs2482965 - 258929	C/C	Benign	Not Specified Hereditary Spherocytosis Type 3 Elliptocytosis 2 Not Provided Pyropoikilocytosis Hereditary	SNV	missense_variant	MedGen:CN169374 MONDO MedGen:C2678338 OMIM:270970 Orphanet:822 MONDO MedGen:C1851741 OMIM:130600 Orphanet:288 MedGen:CN517202 Human_Phenotype_Ontology:HP:0004805 Human_Phenotype_Ontology:HP:0004839 MONDO MedGen:C0520739 OMIM:266140 Orphanet:98867	SPTA1	Germline		NC_000001.10:g.158619728A>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1183031 Uniprotkb:P02549#VAR 038510	2482965	Single Nucleotide Variant	0.99826	0.99397	0.99461	249451
1	158638115	rs879236 - 1238098	A/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	SPTA1	Germline		NC_000001.10:g.158638115C>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1228514
1	158647312	rs325997 - 1237709	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	SPTA1	Germline		NC_000001.10:g.158647312A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1229329
1	158647522	rs703121 - 258961	G/G	Benign	Elliptocytosis 2 Not Specified Hereditary Spherocytosis Type 3 Pyropoikilocytosis Hereditary Not Provided	SNV	synonymous_variant	MONDO MedGen:C1851741 OMIM:130600 Orphanet:288 MedGen:CN169374 MONDO MedGen:C2678338 OMIM:270970 Orphanet:822 Human_Phenotype_Ontology:HP:0004805 Human_Phenotype_Ontology:HP:0004839 MONDO MedGen:C0520739 OMIM:266140 Orphanet:98867 MedGen:CN517202	SPTA1	Germline		NC_000001.10:g.158647522A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1183977	703121	Single Nucleotide Variant	0.54491	0.47773	0.45387	249466
1	158647669	rs703122 - 1270325	C/C	Benign	Not Provided Hereditary Spherocytosis Type 3 Pyropoikilocytosis Hereditary Elliptocytosis 2	SNV	intron_variant	MedGen:CN517202 MONDO MedGen:C2678338 OMIM:270970 Orphanet:822 Human_Phenotype_Ontology:HP:0004805 Human_Phenotype_Ontology:HP:0004839 MONDO MedGen:C0520739 OMIM:266140 Orphanet:98867 MONDO MedGen:C1851741 OMIM:130600 Orphanet:288	SPTA1	Germline		NC_000001.10:g.158647669T>C	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1258937
1	159175428	i709321 - 1185002	C/T	Affects	Duffy Blood Group System	SNV	missense_variant	MedGen:C0013278 OMIM:110700	ACKR1	Inherited		NC_000001.10:g.159175428C>T	No Assertion Criteria Provided		118062001	Single Nucleotide Variant				1174942
1	159682233	rs1205 - 1692995	C/T	Uncertain Significance	Inflammation	SNV	3_prime_UTR_variant	MedGen:C0021368	CRP	Unknown		NC_000001.10:g.159682233C>T	No Assertion Criteria Provided			Single Nucleotide Variant				1685435
1	160009121	rs1053074 - 293090	A/C	Benign	Not Provided EAST Syndrome Autosomal Recessive Nonsyndromic Hearing Loss 4	SNV	3_prime_UTR_variant	MedGen:CN517202 MONDO MedGen:C2748572 OMIM:612780 Orphanet:199343 MONDO MedGen:C3538946 OMIM:600791 Orphanet:90636	KCNJ10	Germline		NC_000001.10:g.160009121A>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA10607906	1053074	Single Nucleotide Variant			0.48103	276775
1	160009419	rs2486253 - 293102	C/C	Benign	Not Provided EAST Syndrome Autosomal Recessive Nonsyndromic Hearing Loss 4	SNV	3_prime_UTR_variant	MedGen:CN517202 MONDO MedGen:C2748572 OMIM:612780 Orphanet:199343 MONDO MedGen:C3538946 OMIM:600791 Orphanet:90636	KCNJ10	Germline		NC_000001.10:g.160009419A>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA10607909	2486253	Single Nucleotide Variant			0.86282	276778
1	160011511	rs3795339 - 129318	C/T	Conflicting Interpretations Of Pathogenicity	Inborn Genetic Diseases Not Specified Not Provided EAST Syndrome Autosomal Recessive Nonsyndromic Hearing Loss 4	SNV	missense_variant	MeSH:D030342 MedGen:C0950123 MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C2748572 OMIM:612780 Orphanet:199343 MONDO MedGen:C3538946 OMIM:600791 Orphanet:90636	KCNJ10	Germline		NC_000001.10:g.160011511C>T	Criteria Provided Conflicting Interpretations	Clingen:CA288918 Uniprotkb:P78508#VAR 020339	3795339	Single Nucleotide Variant	0.00189		0.00300	134764			Uncertain_significance(1)\|Benign(3)\|Likely_benign(1)
1	160093222	rs2820581 - 197163	T/T	Benign	Developmental And Epileptic Encephalopathy 98 Fetal Akinesia Respiratory Insufficiency Microcephaly Polymicrogyria And Dysmorphic Facies Familial Hemiplegic Migraine Not Specified Not Provided Alternating Hemiplegia Of Childhood 1 Migraine Familial Hemiplegic 2	SNV	intron_variant	MONDO MedGen:C5562017 OMIM:619605 MONDO MedGen:C5562015 OMIM:619602 MONDO MedGen:C0338484 OMIM:PS141500 MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C3549447 OMIM:104290 Orphanet:2131 MONDO MedGen:C1865322 OMIM:602481 Orphanet:569	ATP1A2	Germline		NC_000001.10:g.160093222C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA202720	2820581	Single Nucleotide Variant	0.98491	0.94941	0.94249	194324
1	160094343	rs1023420 - 678075	T/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ATP1A2	Germline		NC_000001.10:g.160094343T>C	Criteria Provided Single Submitter		1023420	Single Nucleotide Variant			0.24261	657127
1	160094644	rs1023421 - 668018	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ATP1A2	Germline		NC_000001.10:g.160094644A>G	Criteria Provided Single Submitter		1023421	Single Nucleotide Variant			0.55751	657106
1	160097666	rs6695366 - 670756	A/G	Benign	Not Provided Developmental And Epileptic Encephalopathy 98 Fetal Akinesia Respiratory Insufficiency Microcephaly Polymicrogyria And Dysmorphic Facies Migraine Familial Hemiplegic 2 Alternating Hemiplegia Of Childhood 1	SNV	intron_variant	MedGen:CN517202 MONDO MedGen:C5562017 OMIM:619605 MONDO MedGen:C5562015 OMIM:619602 MONDO MedGen:C1865322 OMIM:602481 Orphanet:569 MONDO MedGen:C3549447 OMIM:104290 Orphanet:2131	ATP1A2	Germline		NC_000001.10:g.160097666G>A	Criteria Provided Multiple Submitters No Conflicts		6695366	Single Nucleotide Variant			0.81530	657116
1	160793560	rs509749 - 1242630	G/G	Benign	Not Provided	SNV	missense_variant	MedGen:CN517202	LY9	Germline		NC_000001.10:g.160793560A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1230885
1	160800559	rs3766377 - 1232419	A/G	Benign	Not Provided	SNV	3_prime_UTR_variant	MedGen:CN517202	CD244	Germline		NC_000001.10:g.160800559A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1224127
1	160807715	rs3766379 - 4895	C/T	Risk Factor	Rheumatoid Arthritis	SNV	intron_variant	Human_Phenotype_Ontology:HP:0001370 MONDO MedGen:C0003873 OMIM:180300 Orphanet:284130	CD244	Germline		NC_000001.10:g.160807715T>C	No Assertion Criteria Provided	Clingen:CA028787 OMIM:605554.0001	3766379	Single Nucleotide Variant			0.56150	19934
1	161009523	rs3737787 - 12294	A/A	Risk Factor	Hyperlipidemia Familial Combined Susceptibility To	SNV	3_prime_UTR_variant	MedGen:C4016424	USF1	Germline		NC_000001.10:g.161009523G>A	No Assertion Criteria Provided	Clingen:CA122121 OMIM:191523.0001	3737787	Single Nucleotide Variant			0.17033	27333
1	161010762	rs2073658 - 12295	T/T	Risk Factor	Hyperlipidemia Familial Combined Susceptibility To	SNV	intron_variant	MedGen:C4016424	USF1	Germline		NC_000001.10:g.161010762C>T	No Assertion Criteria Provided	Clingen:CA122122 OMIM:191523.0002	2073658	Single Nucleotide Variant			0.17113	27334
1	161135559	rs2502806 - 1168302	G/A	Benign	Not Provided	SNV		MedGen:CN517202	PPOX	Germline		NC_000001.10:g.161135559A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1153320
1	161136224	rs2301286 - 293238	C/A	Benign	Variegate Porphyria Not Provided	SNV	5_prime_UTR_variant	MONDO MedGen:C0162532 OMIM:176200 Orphanet:79473 MedGen:CN517202	PPOX	Germline		NC_000001.10:g.161136224C>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA10608136	2301286	Single Nucleotide Variant			0.35923	277167
1	161139738	rs36013429 - 293255	G/A	Benign	Variegate Porphyria Not Specified Not Provided	SNV	missense_variant	MONDO MedGen:C0162532 OMIM:176200 Orphanet:79473 MedGen:CN169374 MedGen:CN517202	PPOX	Germline		NC_000001.10:g.161139738G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1207291 Uniprotkb:P50336#VAR 003690	36013429	Single Nucleotide Variant	0.05885	0.04552	0.04892	277862
1	161172233	rs11538340 - 293269	C/A	Benign	Mitochondrial Complex I Deficiency Nuclear Type 1 Mitochondrial Complex 1 Deficiency Nuclear Type 6 Not Provided	SNV	SO:0001583 missense_variantSO:0001619 non-coding_transcript_variant	MONDO MedGen:CN257533 OMIM:252010 MONDO MedGen:C4748759 OMIM:618228 MedGen:CN517202	NDUFS2	Germline		NC_000001.10:g.161172233C>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1208457 Uniprotkb:O75306#VAR 034150	11538340	Single Nucleotide Variant		0.07407	0.08646	277942
1	161176137	rs4656993 - 1229436	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	NDUFS2	Germline		NC_000001.10:g.161176137A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1220691
1	161179877	rs4656994 - 1241229	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	NDUFS2	Germline		NC_000001.10:g.161179877G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1230766
1	161192316	rs6413453 - 293292	G/A	Benign	Apolipoprotein A-II Deficiency	SNV	intron_variant	MedGen:C3888202	APOA2	Germline		NC_000001.10:g.161192316G>A	Criteria Provided Single Submitter	Clingen:CA1209106	6413453	Single Nucleotide Variant	0.11352	0.08219	0.10304	277897
1	161193683	rs5082 - 17936	A/G	Pathogenic	Hypercholesterolemia Familial 1	SNV		MONDO MedGen:C0745103 OMIM:143890 Orphanet:391665	APOA2	Germline		NC_000001.10:g.161193683G>A	No Assertion Criteria Provided	OMIM:107670.0002	5082	Single Nucleotide Variant				32975
1	161200586	rs2307418 - 95259	T/G	Benign	Not Specified	SNV	intron_variant	MedGen:CN169374	NR1I3	Germline		NC_000001.10:g.161200586T>G	Criteria Provided Single Submitter	Clingen:CA148361	2307418	Single Nucleotide Variant	0.13220	0.11379	0.08267	101158
1	161202605	rs2307424 - 197772	A/A	Benign	Not Specified	SNV	synonymous_variant	MedGen:CN169374	NR1I3	Germline		NC_000001.10:g.161202605G>A	Criteria Provided Single Submitter	Clingen:CA203070	2307424	Single Nucleotide Variant	0.35343	0.26987	0.33626	194933
1	161479745	rs1801274 - 14823	A/G	Benign	Malaria Severe Susceptibility To Not Specified Lupus Nephritis Susceptibility To Pseudomonas Aeruginosa Susceptibility To Chronic Infection By In Cystic Fibrosis	SNV	missense_variant	MedGen:C1970029 MedGen:CN169374 . .	FCGR2A	Germline		NC_000001.10:g.161479745A>G	Criteria Provided Single Submitter	Clingen:CA124361 OMIM:146790.0001 Pharmgkb Clinical Annotation:1185003571	1801274	Single Nucleotide Variant	0.47910		0.44169	29862
1	161736209	rs35284289 - 1170814	T/C	Benign	Not Provided	SNV	missense_variant	MedGen:CN517202	ATF6	Germline		NC_000001.10:g.161736209T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1153324
1	161751741	rs1058405 - 801568	A/G	Benign	Achromatopsia 7 Not Provided	SNV	missense_variant	MONDO MedGen:C4225297 OMIM:616517 Orphanet:49382 MedGen:CN517202	ATF6	Germline		NC_000001.10:g.161751741A>G	Criteria Provided Multiple Submitters No Conflicts		1058405	Single Nucleotide Variant	0.23597	0.21183	0.16693	789872
1	161928327	rs9482 - 1167834	G/A	Benign	Not Provided Achromatopsia 7	SNV	synonymous_variant	MedGen:CN517202 MONDO MedGen:C4225297 OMIM:616517 Orphanet:49382	ATF6	Germline		NC_000001.10:g.161928327A>G	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1153337
1	162302635	rs347306 - 1298248	T/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	NOS1AP	Germline		NC_000001.10:g.162302635T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1288033
1	162335424	rs1964052 - 1251683	C/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	NOS1AP	Germline		NC_000001.10:g.162335424T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1240777
1	162336539	rs7551382 - 1240585	A/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	NOS1AP	Germline		NC_000001.10:g.162336539A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1231408
1	162740327	rs1780003 - 259930	C/C	Benign	Not Provided Not Specified Warburg-Cinotti Syndrome Squamous Cell Lung Carcinoma Spondyloepimetaphyseal Dysplasia-Short Limb-Abnormal Calcification Syndrome	SNV	intron_variant	MedGen:CN517202 MedGen:CN169374 MONDO MedGen:C5193019 OMIM:618175 Human_Phenotype_Ontology:HP:0030359 MONDO MedGen:C0149782 MONDO MedGen:C1849011 OMIM:271665 Orphanet:93358	DDR2	3		NC_000001.10:g.162740327T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1217541	1780003	Single Nucleotide Variant		0.94756	0.94549	249493
1	162749761	rs1510315 - 1238303	C/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	DDR2	Germline		NC_000001.10:g.162749761T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1228718
1	165174959	rs16841013 - 1236257	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	LMX1A	Germline		NC_000001.10:g.165174959C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1227966
1	165175374	rs4656435 - 1294822	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	LMX1A	Germline		NC_000001.10:g.165175374G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1284618
1	165218679	rs9970062 - 1225155	T/T	Benign	Not Provided	SNV	synonymous_variant	MedGen:CN517202	LMX1A	Germline		NC_000001.10:g.165218679C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1216422
1	165601466	rs9333378 - 1693609	A/G	Association	Pulmonary Disease Chronic Obstructive Susceptibility To	SNV	intron_variant	MONDO MedGen:C3838076	MGST3	Germline		NC_000001.10:g.165601466G>A	No Assertion Criteria Provided			Single Nucleotide Variant				1686045
1	167403625	rs953809 - 1275568	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	CD247	Germline		NC_000001.10:g.167403625A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1263746
1	167404989	rs1773539 - 1188114	G/A	Likely Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	CD247	Germline		NC_000001.10:g.167404989G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1175779
1	167407517	rs2480679 - 1291551	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	CD247	Germline		NC_000001.10:g.167407517A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1281365
1	167408073	rs2258497 - 1258083	A/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	CD247	Germline		NC_000001.10:g.167408073C>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1248853
1	167408670	rs840016 - 1179252	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	CD247	Germline		NC_000001.10:g.167408670C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1168792
1	167806696	rs1034464 - 1252343	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ADCY10	Germline		NC_000001.10:g.167806696T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1242289
1	167817639	rs203795 - 1167835	G/A	Benign	Not Provided	SNV	synonymous_variant	MedGen:CN517202	ADCY10	Germline		NC_000001.10:g.167817639A>G	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1153347
1	167823505	rs3738235 - 1231231	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ADCY10	Germline		NC_000001.10:g.167823505G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1221193
1	167823512	rs3738236 - 1248090	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ADCY10	Germline		NC_000001.10:g.167823512T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1238044
1	167825485	rs2071921 - 1167836	C/T	Benign	Not Provided	SNV	missense_variant	MedGen:CN517202	ADCY10	Germline		NC_000001.10:g.167825485T>C	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1153349
1	167825606	rs2071922 - 1164409	A/G	Benign	Not Provided	SNV	synonymous_variant	MedGen:CN517202	ADCY10	Germline		NC_000001.10:g.167825606A>G	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1153350
1	168274201	rs4656579 - 1334932	A/A	Benign	Congenital Isolated Adrenocorticotropic Hormone Deficiency	SNV	intron_variant	Human_Phenotype_Ontology:HP:0011748 MONDO MedGen:C0342388 OMIM:201400 Orphanet:199296	TBX19	Germline		NC_000001.10:g.168274201G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1325906
1	168282491	rs1000533 - 293486	C/C	Benign	Congenital Isolated Adrenocorticotropic Hormone Deficiency	SNV	3_prime_UTR_variant	Human_Phenotype_Ontology:HP:0011748 MONDO MedGen:C0342388 OMIM:201400 Orphanet:199296	TBX19	Germline		NC_000001.10:g.168282491T>C	Criteria Provided Single Submitter	Clingen:CA10608083	1000533	Single Nucleotide Variant			0.19010	277086
1	169446183	rs1983546 - 683854	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	SLC19A2	Germline		NC_000001.10:g.169446183A>G	Criteria Provided Single Submitter		1983546	Single Nucleotide Variant			0.61502	657157
1	169481223	rs6427196 - 293541	G/G	Benign/Likely Benign	Thrombophilia Due To Activated Protein C Resistance Thrombophilia Due To Thrombin Defect Factor V Deficiency Budd-Chiari Syndrome	SNV	3_prime_UTR_variant	MONDO MedGen:C1861171 OMIM:188055 MONDO MedGen:C3160733 OMIM:188050 MONDO MedGen:C0015499 OMIM:227400 Orphanet:326 Human_Phenotype_Ontology:HP:0002639 MONDO MedGen:C0856761 OMIM:600880 Orphanet:131	F5	Germline		NC_000001.10:g.169481223C>G	Criteria Provided Single Submitter	Clingen:CA10608686	6427196	Single Nucleotide Variant			0.91234	278256
1	169481950	rs2187952 - 293546	G/A	Benign/Likely Benign	Thrombophilia Due To Activated Protein C Resistance Not Provided Thrombophilia Due To Thrombin Defect Budd-Chiari Syndrome Factor V Deficiency	SNV	3_prime_UTR_variant	MONDO MedGen:C1861171 OMIM:188055 MedGen:CN517202 MONDO MedGen:C3160733 OMIM:188050 Human_Phenotype_Ontology:HP:0002639 MONDO MedGen:C0856761 OMIM:600880 Orphanet:131 MONDO MedGen:C0015499 OMIM:227400 Orphanet:326	F5	Germline		NC_000001.10:g.169481950G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA10608135	2187952	Single Nucleotide Variant			0.27556	277166
1	169482436	rs2040444 - 293554	A/G	Benign/Likely Benign	Factor V Deficiency Thrombophilia Due To Thrombin Defect Budd-Chiari Syndrome Thrombophilia Due To Activated Protein C Resistance	SNV	3_prime_UTR_variant	MONDO MedGen:C0015499 OMIM:227400 Orphanet:326 MONDO MedGen:C3160733 OMIM:188050 Human_Phenotype_Ontology:HP:0002639 MONDO MedGen:C0856761 OMIM:600880 Orphanet:131 MONDO MedGen:C1861171 OMIM:188055	F5	Germline		NC_000001.10:g.169482436G>A	Criteria Provided Single Submitter	Clingen:CA10608691	2040444	Single Nucleotide Variant			0.47744	278264
1	169484552	rs3820060 - 1242569	T/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	F5	Germline		NC_000001.10:g.169484552T>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1230824
1	169488927	rs3766103 - 1599739	T/C	Benign	Factor V Deficiency	SNV	intron_variant	MONDO MedGen:C0015499 OMIM:227400 Orphanet:326	F5	Germline		NC_000001.10:g.169488927C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1661913
1	169489585	rs2213867 - 1224783	T/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	F5	Germline		NC_000001.10:g.169489585T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1217337
1	169493953	rs12131397 - 1232273	A/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	F5	Germline		NC_000001.10:g.169493953A>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1219689
1	169498834	rs6009 - 255211	C/C	Benign/Likely Benign	Not Specified Thrombophilia Due To Thrombin Defect Factor V Deficiency Thrombophilia Due To Activated Protein C Resistance Budd-Chiari Syndrome	SNV	intron_variant	MedGen:CN169374 MONDO MedGen:C3160733 OMIM:188050 MONDO MedGen:C0015499 OMIM:227400 Orphanet:326 MONDO MedGen:C1861171 OMIM:188055 Human_Phenotype_Ontology:HP:0002639 MONDO MedGen:C0856761 OMIM:600880 Orphanet:131	F5	Germline		NC_000001.10:g.169498834T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1233507	6009	Single Nucleotide Variant	0.93257	0.91635	0.93630	249500
1	169498975	rs6030 - 255210	T/C	Conflicting Interpretations Of Pathogenicity	Not Specified Thrombophilia Due To Activated Protein C Resistance Not Provided	SNV	missense_variant	MedGen:CN169374 MONDO MedGen:C1861171 OMIM:188055 MedGen:CN517202	F5	Germline		NC_000001.10:g.169498975T>C	Criteria Provided Conflicting Interpretations	Clingen:CA1233528 Uniprotkb:P12259#VAR 013897	6030	Single Nucleotide Variant	0.33506	0.28941	0.30871	249501			Uncertain_significance(1)\|Benign(2)\|Likely_benign(1)
1	169500481	rs9332618 - 1287709	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	F5	Germline		NC_000001.10:g.169500481G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1277541
1	169511555	rs6032 - 255202	T/C	Benign/Likely Benign	Budd-Chiari Syndrome Thrombophilia Due To Thrombin Defect Not Specified Factor V Deficiency Thrombophilia Due To Activated Protein C Resistance Not Provided	SNV	missense_variant	Human_Phenotype_Ontology:HP:0002639 MONDO MedGen:C0856761 OMIM:600880 Orphanet:131 MONDO MedGen:C3160733 OMIM:188050 MedGen:CN169374 MONDO MedGen:C0015499 OMIM:227400 Orphanet:326 MONDO MedGen:C1861171 OMIM:188055 MedGen:CN517202	F5	Germline		NC_000001.10:g.169511555T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1234031 Uniprotkb:P12259#VAR 013890	6032	Single Nucleotide Variant	0.27366	0.24350	0.26278	249507
1	169511734	rs4525 - 255201	T/C	Benign/Likely Benign	Budd-Chiari Syndrome Not Provided Factor V Deficiency Not Specified Thrombophilia Due To Thrombin Defect Thrombophilia Due To Activated Protein C Resistance	SNV	missense_variant	Human_Phenotype_Ontology:HP:0002639 MONDO MedGen:C0856761 OMIM:600880 Orphanet:131 MedGen:CN517202 MONDO MedGen:C0015499 OMIM:227400 Orphanet:326 MedGen:CN169374 MONDO MedGen:C3160733 OMIM:188050 MONDO MedGen:C1861171 OMIM:188055	F5	Germline		NC_000001.10:g.169511734T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1234065 Uniprotkb:P12259#VAR 001215	4525	Single Nucleotide Variant	0.27377	0.24373	0.26278	249508
1	169511755	rs4524 - 255200	T/C	Conflicting Interpretations Of Pathogenicity	Thrombophilia Due To Activated Protein C Resistance Not Specified Not Provided	SNV	missense_variant	MONDO MedGen:C1861171 OMIM:188055 MedGen:CN169374 MedGen:CN517202	F5	Germline		NC_000001.10:g.169511755T>C	Criteria Provided Conflicting Interpretations	Clingen:CA1234067 Uniprotkb:P12259#VAR 001214	4524	Single Nucleotide Variant	0.27684	0.24358	0.26677	249509			Uncertain_significance(1)\|Benign(2)\|Likely_benign(1)
1	169512027	rs6021 - 255196	T/C	Benign/Likely Benign	Not Specified Budd-Chiari Syndrome Not Provided Thrombophilia Due To Thrombin Defect Factor V Deficiency Thrombophilia Due To Activated Protein C Resistance	SNV	synonymous_variant	MedGen:CN169374 Human_Phenotype_Ontology:HP:0002639 MONDO MedGen:C0856761 OMIM:600880 Orphanet:131 MedGen:CN517202 MONDO MedGen:C3160733 OMIM:188050 MONDO MedGen:C0015499 OMIM:227400 Orphanet:326 MONDO MedGen:C1861171 OMIM:188055	F5	Germline		NC_000001.10:g.169512027T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1234108	6021	Single Nucleotide Variant	0.27365	0.24358	0.26278	249512
1	169512093	rs6017 - 255194	A/G	Benign/Likely Benign	Not Provided Budd-Chiari Syndrome Not Specified Thrombophilia Due To Thrombin Defect Factor V Deficiency Thrombophilia Due To Activated Protein C Resistance	SNV	synonymous_variant	MedGen:CN517202 Human_Phenotype_Ontology:HP:0002639 MONDO MedGen:C0856761 OMIM:600880 Orphanet:131 MedGen:CN169374 MONDO MedGen:C3160733 OMIM:188050 MONDO MedGen:C0015499 OMIM:227400 Orphanet:326 MONDO MedGen:C1861171 OMIM:188055	F5	Germline		NC_000001.10:g.169512093A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1234123	6017	Single Nucleotide Variant	0.27368	0.24350	0.26278	249514
1	169512120	rs6016 - 255193	G/A	Benign/Likely Benign	Not Specified Budd-Chiari Syndrome Thrombophilia Due To Thrombin Defect Not Provided Factor V Deficiency Thrombophilia Due To Activated Protein C Resistance	SNV	synonymous_variant	MedGen:CN169374 Human_Phenotype_Ontology:HP:0002639 MONDO MedGen:C0856761 OMIM:600880 Orphanet:131 MONDO MedGen:C3160733 OMIM:188050 MedGen:CN517202 MONDO MedGen:C0015499 OMIM:227400 Orphanet:326 MONDO MedGen:C1861171 OMIM:188055	F5	Germline		NC_000001.10:g.169512120G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1234131	6016	Single Nucleotide Variant	0.27361	0.24358	0.26278	249515
1	169512497	rs2239851 - 1242176	C/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	F5	Germline		NC_000001.10:g.169512497C>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1231719
1	169512524	rs2239852 - 1254957	T/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	F5	Germline		NC_000001.10:g.169512524C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1244889
1	169514006	rs1018827 - 1230677	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	F5	Germline		NC_000001.10:g.169514006A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1221928
1	169519049	rs6025 - 226007	C/C	Conflicting Interpretations Of Pathogenicity	Factor V Deficiency Not Provided	SNV	no_sequence_alteration	MONDO MedGen:C0015499 OMIM:227400 Orphanet:326 MedGen:CN517202	F5	Germline		NC_000001.10:g.169519049T>C	Criteria Provided Conflicting Interpretations	Clingen:CA1234291 Pharmgkb Clinical Annotation:1183689558		Single Nucleotide Variant				227743			Pathogenic(1)\|Benign(2)
1	169520098	rs10800456 - 1268340	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	F5	Germline		NC_000001.10:g.169520098A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1258248
1	169525766	rs2239853 - 1282469	C/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	F5	Germline		NC_000001.10:g.169525766T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1272323
1	169525808	rs2239854 - 1247250	A/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	F5	Germline		NC_000001.10:g.169525808G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1235913
1	169528830	rs6427202 - 1239765	T/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	F5	Germline		NC_000001.10:g.169528830C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1228887
1	169551682	rs6028 - 255197	C/C	Benign/Likely Benign	Not Provided Budd-Chiari Syndrome Thrombophilia Due To Thrombin Defect Factor V Deficiency Not Specified Thrombophilia Due To Activated Protein C Resistance	SNV	synonymous_variant	MedGen:CN517202 Human_Phenotype_Ontology:HP:0002639 MONDO MedGen:C0856761 OMIM:600880 Orphanet:131 MONDO MedGen:C3160733 OMIM:188050 MONDO MedGen:C0015499 OMIM:227400 Orphanet:326 MedGen:CN169374 MONDO MedGen:C1861171 OMIM:188055	F5	Germline		NC_000001.10:g.169551682T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1234696	6028	Single Nucleotide Variant	0.31354	0.20541	0.22644	249526
1	169563951	rs6136 - 13527	T/G	Benign	SELECTIN P POLYMORPHISM	SNV	missense_variant		SELP	Germline		NC_000001.10:g.169563951T>G	No Assertion Criteria Provided	Clingen:CA123169 OMIM:173610.0001	6136	Single Nucleotide Variant	0.08208		0.03594	28566
1	170501167	rs16863397 - 1241712	T/C	Benign	Not Provided	SNV		MedGen:CN517202	GORAB	Germline		NC_000001.10:g.170501167T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1232489
1	170501456	rs11578119 - 1225317	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	GORAB	Germline		NC_000001.10:g.170501456C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1216584
1	170521376	rs913257 - 262629	A/G	Benign	Not Provided Not Specified Geroderma Osteodysplastica	SNV	SO:0001583 missense_variantSO:0001619 non-coding_transcript_variant	MedGen:CN517202 MedGen:CN169374 MONDO MedGen:C0432255 OMIM:231070 Orphanet:2078	GORAB	Germline		NC_000001.10:g.170521376G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1239262 Uniprotkb:Q5T7V8#VAR 027867	913257	Single Nucleotide Variant		0.48585	0.59265	249533
1	171076966	rs2266782 - 38394	G/A	Benign	Not Specified Not Provided Trimethylaminuria See Cases	SNV	missense_variant	MedGen:CN169374 MedGen:CN517202 Human_Phenotype_Ontology:HP:0003614 MONDO MedGen:C0342739 OMIM:602079 Orphanet:35056 .	FMO3	Germline	Human_Phenotype_Ontology:HP:0003614MONDO:MONDO:0011182MedGen:C0342739OMIM:602079Orphanet:35056 MedGen:C4016101	NC_000001.10:g.171076966G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA038589 OMIM:136132.0015 Uniprotkb:P31513#VAR 002425	2266782	Single Nucleotide Variant	0.38297		0.34784	38476	Trimethylaminuria Trimethylaminuria mild	217371:Pathogenic
1	171077198	rs1920149 - 260074	G/A	Benign	Trimethylaminuria Not Specified	SNV	intron_variant	Human_Phenotype_Ontology:HP:0003614 MONDO MedGen:C0342739 OMIM:602079 Orphanet:35056 MedGen:CN169374	FMO3	Germline		NC_000001.10:g.171077198G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1240557	1920149	Single Nucleotide Variant	0.50485	0.54644	0.53854	249539
1	171083174	rs909530 - 260078	C/T	Benign	Trimethylaminuria Not Specified	SNV	synonymous_variant	Human_Phenotype_Ontology:HP:0003614 MONDO MedGen:C0342739 OMIM:602079 Orphanet:35056 MedGen:CN169374	FMO3	Germline		NC_000001.10:g.171083174C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1240680	909530	Single Nucleotide Variant	0.28913	0.30747	0.33367	249543
1	171083242	rs2266780 - 38395	A/G	Benign/Likely Benign	Not Specified Not Provided Trimethylaminuria	SNV	missense_variant	MedGen:CN169374 MedGen:CN517202 Human_Phenotype_Ontology:HP:0003614 MONDO MedGen:C0342739 OMIM:602079 Orphanet:35056	FMO3	Germline	Human_Phenotype_Ontology:HP:0003614MONDO:MONDO:0011182MedGen:C0342739OMIM:602079Orphanet:35056 MedGen:C4016101	NC_000001.10:g.171083242A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA038272 OMIM:136132.0015 Uniprotkb:P31513#VAR 002427	2266780	Single Nucleotide Variant	0.15293		0.09145	31357	Trimethylaminuria Trimethylaminuria mild	16318:Pathogenic/Likely_pathogenic
1	171083537	rs909531 - 260064	T/C	Benign	Not Specified	SNV	intron_variant	MedGen:CN169374	FMO3	Germline		NC_000001.10:g.171083537T>C	Criteria Provided Single Submitter	Clingen:CA1240750	909531	Single Nucleotide Variant	0.20885	0.24075	0.19329	249545
1	171178152	rs2020869 - 769543	A/G	Likely Benign	Not Provided	SNV	SO:0001619 non-coding_transcript_variantSO:0001819 synonymous_variant	MedGen:CN517202	FMO2	Germline		NC_000001.10:g.171178152A>G	Criteria Provided Single Submitter		2020869	Single Nucleotide Variant			0.18071	696268
1	171607702	rs2032555 - 1259809	T/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	MYOC	Germline		NC_000001.10:g.171607702C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1249294
1	172410967	rs1063412 - 1327021	A/G	Benign	Glycosylphosphatidylinositol Biosynthesis Defect 16 Not Provided	SNV	SO:0001583 missense_variantSO:0001627 intron_variant	MONDO MedGen:C4540521 OMIM:617816 MedGen:CN517202	PIGC	Germline		NC_000001.10:g.172410967G>A	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1317521
1	172627498	rs763110 - 1165021	C/T	Benign	Autoimmune Lymphoproliferative Syndrome Type 1	SNV		MONDO MedGen:C1328840 OMIM:601859 Orphanet:3261	FASLG	Germline		NC_000001.10:g.172627498C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1153359
1	175355391	rs859437 - 1241304	G/A	Benign	Not Provided	SNV	synonymous_variant	MedGen:CN517202	TNR	Germline		NC_000001.10:g.175355391A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1233361
1	179519880	rs1060775 - 224486	C/C	Benign	Nephrotic Syndrome Type 2	SNV	SO:0001624 3_prime_UTR_variantSO:0001627 intron_variant	MONDO MedGen:C1868672 OMIM:600995 Orphanet:656	NPHS2	Germline		NC_000001.10:g.179519880T>C	Criteria Provided Single Submitter	Clingen:CA354127	1060775	Single Nucleotide Variant			0.90176	226216
1	179520108	rs2274623 - 224484	C/T	Benign	Not Provided Nephrotic Syndrome Type 2	SNV	SO:0001624 3_prime_UTR_variantSO:0001627 intron_variant	MedGen:CN517202 MONDO MedGen:C1868672 OMIM:600995 Orphanet:656	NPHS2	Germline		NC_000001.10:g.179520108C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA354117	2274623	Single Nucleotide Variant			0.19169	226218
1	179520151	rs1410590 - 224483	T/T	Benign	Not Provided Nephrotic Syndrome Type 2	SNV	SO:0001624 3_prime_UTR_variantSO:0001627 intron_variant	MedGen:CN517202 MONDO MedGen:C1868672 OMIM:600995 Orphanet:656	NPHS2	Germline		NC_000001.10:g.179520151C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA354125	1410590	Single Nucleotide Variant			0.90515	226219
1	179520506	rs1410592 - 260432	A/G	Benign	Not Provided Nephrotic Syndrome Type 2 Steroid-Resistant Nephrotic Syndrome Not Specified	SNV	SO:0001627 intron_variantSO:0001819 synonymous_variant	MedGen:CN517202 MONDO MedGen:C1868672 OMIM:600995 Orphanet:656 Human_Phenotype_Ontology:HP:0012588 MONDO MedGen:C0403397 MedGen:CN169374	NPHS2	Germline		NC_000001.10:g.179520506G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1267057	1410592	Single Nucleotide Variant		0.61718	0.58766	249553
1	179520844	rs2274625 - 1282962	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	NPHS2	Germline		NC_000001.10:g.179520844G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1270673
1	179521932	rs2274626 - 1289362	G/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	NPHS2	Germline		NC_000001.10:g.179521932G>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1279193
1	179529150	rs10913817 - 1182358	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	NPHS2	Germline		NC_000001.10:g.179529150T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1170629
1	179852074	rs1281378 - 257699	C/C	Benign	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2Y Not Specified Not Provided	SNV	missense_variant	MONDO MedGen:C4511482 OMIM:617072 Orphanet:424261 MedGen:CN169374 MedGen:CN517202	TOR1AIP1	Germline		NC_000001.10:g.179852074T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1268753 Uniprotkb:Q5JTV8#VAR 025717	1281378	Single Nucleotide Variant		0.56920	0.60883	249561
1	179858333	rs1300068 - 1222589	T/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	TOR1AIP1	Germline		NC_000001.10:g.179858333C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1212987
1	179858444	rs2245425 - 257701	A/A	Conflicting Interpretations Of Pathogenicity	Not Provided Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2Y Not Specified	SNV	SO:0001574 splice_acceptor_variantSO:0001627 intron_variant	MedGen:CN517202 MONDO MedGen:C4511482 OMIM:617072 Orphanet:424261 MedGen:CN169374	TOR1AIP1	17		NC_000001.10:g.179858444G>A	Criteria Provided Conflicting Interpretations	Clingen:CA1268839	2245425	Single Nucleotide Variant	0.64659	0.58306	0.63538	249563			Uncertain_significance(1)\|Benign(4)
1	179876988	rs609521 - 257703	G/G	Benign	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2Y Not Specified Not Provided	SNV	missense_variant	MONDO MedGen:C4511482 OMIM:617072 Orphanet:424261 MedGen:CN169374 MedGen:CN517202	TOR1AIP1	Germline		NC_000001.10:g.179876988C>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1268967	609521	Single Nucleotide Variant		0.54021	0.58406	249565
1	179887125	rs627897 - 257698	A/A	Benign	Not Specified Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2Y Not Provided	SNV	synonymous_variant	MedGen:CN169374 MONDO MedGen:C4511482 OMIM:617072 Orphanet:424261 MedGen:CN517202	TOR1AIP1	Germline		NC_000001.10:g.179887125G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1269159	627897	Single Nucleotide Variant	0.94850	0.92750	0.91853	249568
1	180757056	rs3761904 - 1281131	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	XPR1	Germline		NC_000001.10:g.180757056A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1271849
1	180794761	rs1980157 - 1223581	A/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	XPR1	Germline		NC_000001.10:g.180794761C>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1213854
1	181479906	rs56233035 - 1226614	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	CACNA1E	Germline		NC_000001.10:g.181479906G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1217868
1	181480183	rs17494681 - 1296142	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	CACNA1E	Germline		NC_000001.10:g.181480183C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1285937
1	181549547	rs10494540 - 1236032	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	CACNA1E	Germline		NC_000001.10:g.181549547T>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1225152
1	181684605	rs12407563 - 1192682	G/A	Benign	Not Provided Developmental And Epileptic Encephalopathy 69	SNV	intron_variant	MedGen:CN517202 MONDO MedGen:C4748988 OMIM:618285	CACNA1E	Germline		NC_000001.10:g.181684605A>G	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1182544
1	181686216	rs7540850 - 1192683	C/T	Benign	Developmental And Epileptic Encephalopathy 69 Not Provided	SNV	intron_variant	MONDO MedGen:C4748988 OMIM:618285 MedGen:CN517202	CACNA1E	Germline		NC_000001.10:g.181686216T>C	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1182545
1	181719679	rs704332 - 1192685	T/C	Benign	Developmental And Epileptic Encephalopathy 69 Not Provided	SNV	intron_variant	MONDO MedGen:C4748988 OMIM:618285 MedGen:CN517202	CACNA1E	Germline		NC_000001.10:g.181719679C>T	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1182547
1	181727273	rs704329 - 1292555	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	CACNA1E	Germline		NC_000001.10:g.181727273G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1282361
1	181753030	rs546191 - 1222460	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	CACNA1E	Germline		NC_000001.10:g.181753030T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1212858
1	181759657	rs704326 - 1292983	G/A	Benign	Not Provided	SNV	missense_variant	MedGen:CN517202	CACNA1E	Germline		NC_000001.10:g.181759657G>A	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1282789
1	182352621	rs7734 - 293925	C/T	Benign	Congenital Brain Dysgenesis Due To Glutamine Synthetase Deficiency	SNV	3_prime_UTR_variant	MONDO MedGen:C1864910 OMIM:610015 Orphanet:71278	GLUL	Germline		NC_000001.10:g.182352621T>C	Criteria Provided Single Submitter	Clingen:CA10608380	7734	Single Nucleotide Variant			0.67033	277624
1	182554557	rs486907 - 13006	C/T	Uncertain Significance Risk Factor	Prostate Cancer Hereditary 1 Prostate Cancer Susceptibility To	SNV	missense_variant	MONDO MedGen:C4722327 OMIM:601518 Orphanet:1331 MedGen:CN300425	RNASEL	Germline		NC_000001.10:g.182554557C>T	No Assertion Criteria Provided	Clingen:CA122817 OMIM:180435.0003 Uniprotkb:Q05823#VAR 012056	486907	Single Nucleotide Variant	0.30892		0.23063	28045
1	183524855	rs796860 - 294066	A/A	Benign	Granulomatous Disease Chronic Autosomal Recessive Cytochrome B-Positive Type 2	SNV	3_prime_UTR_variant	MONDO MedGen:C1856245 OMIM:233710 Orphanet:379	NCF2	Germline		NC_000001.10:g.183524855C>A	Criteria Provided Single Submitter	Clingen:CA10608449	796860	Single Nucleotide Variant			0.93930	277753
1	183534935	rs2296164 - 1235081	T/C	Benign	Granulomatous Disease Chronic Autosomal Recessive Cytochrome B-Positive Type 2 Not Provided	SNV	intron_variant	MONDO MedGen:C1856245 OMIM:233710 Orphanet:379 MedGen:CN517202	NCF2	Germline		NC_000001.10:g.183534935C>T	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1222910
1	183542387	rs2274064 - 256116	C/T	Benign	Not Specified Not Provided Granulomatous Disease Chronic Autosomal Recessive Cytochrome B-Positive Type 2	SNV	SO:0001583 missense_variantSO:0001627 intron_variant	MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C1856245 OMIM:233710 Orphanet:379	NCF2	Germline		NC_000001.10:g.183542387T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1284929 Uniprotkb:P19878#VAR 018477	2274064	Single Nucleotide Variant	0.48949	0.43003	0.49161	249583
1	183548992	rs10911362 - 1266063	A/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	NCF2	Germline		NC_000001.10:g.183548992A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1257686
1	184020945	rs2274432 - 1249884	G/A	Benign	Not Specified Not Provided	SNV	SO:0001583 missense_variantSO:0001619 non-coding_transcript_variant	MedGen:CN169374 MedGen:CN517202	TSEN15	Germline		NC_000001.10:g.184020945G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1240259
1	184023529	rs1046934 - 1284754	A/C	Benign	Not Provided Not Specified	SNV	SO:0001583 missense_variantSO:0001619 non-coding_transcript_variant	MedGen:CN517202 MedGen:CN169374	TSEN15	Germline		NC_000001.10:g.184023529A>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1274606
1	186026474	rs12129650 - 294183	C/C	Benign	Not Provided Age Related Macular Degeneration 1	SNV	missense_variant	MedGen:CN517202 MONDO MedGen:C1864205 OMIM:603075	HMCN1	Germline		NC_000001.10:g.186026474T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1292780 Uniprotkb:Q96RW7#VAR 024813	12129650	Single Nucleotide Variant	0.53890	0.52537	0.52995	277951
1	186050417	rs10798035 - 96208	G/G	Benign	Not Specified Not Provided Age Related Macular Degeneration 1	SNV	missense_variant	MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C1864205 OMIM:603075	HMCN1	Germline		NC_000001.10:g.186050417A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA149362 Uniprotkb:Q96RW7#VAR 024814	10798035	Single Nucleotide Variant	0.54528	0.55498	0.58267	102102
1	186055371	rs6425017 - 294201	G/G	Benign	Not Provided Age Related Macular Degeneration 1	SNV	intron_variant	MedGen:CN517202 MONDO MedGen:C1864205 OMIM:603075	HMCN1	Germline		NC_000001.10:g.186055371A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1293262	6425017	Single Nucleotide Variant	0.57832	0.62811	0.66134	278898
1	186101539	rs10911825 - 294262	G/G	Benign	Not Provided Age Related Macular Degeneration 1	SNV	missense_variant	MedGen:CN517202 MONDO MedGen:C1864205 OMIM:603075	HMCN1	Germline		NC_000001.10:g.186101539A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1294623 Uniprotkb:Q96RW7#VAR 049877	10911825	Single Nucleotide Variant	0.40824	0.36996	0.48443	278022
1	186113852	rs17531405 - 1183870	G/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	HMCN1	Germline		NC_000001.10:g.186113852G>C	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1170640
1	186273994	rs2273779 - 518309	C/T	Benign	Not Specified Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	SNV	SO:0001583 missense_variantSO:0001627 intron_variant	MedGen:CN169374 MONDO MedGen:C1859690 OMIM:208250 Orphanet:2848	PRG4	Germline		NC_000001.10:g.186273994C>T	No Assertion Criteria Provided	Clingen:CA1295879	2273779	Single Nucleotide Variant	0.30500	0.29648	0.23163	508763
1	186277989	rs3737940 - 518311	A/G	Benign	Not Specified Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	SNV	synonymous_variant	MedGen:CN169374 MONDO MedGen:C1859690 OMIM:208250 Orphanet:2848	PRG4	Germline		NC_000001.10:g.186277989A>G	Criteria Provided Single Submitter	Clingen:CA1296546	3737940	Single Nucleotide Variant	0.30159	0.28464	0.22125	508765
1	186370281	rs180959681 - 715470	C/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	OCLM	Germline		NC_000001.10:g.186370281C>G	Criteria Provided Single Submitter		180959681	Single Nucleotide Variant	0.00483	0.00562	0.00140	718444
1	186946912	rs2307198 - 2113058	A/A	Benign	Not Provided	SNV	missense_variant	MedGen:CN517202	PLA2G4A	Germline		NC_000001.10:g.186946912G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				2164346
1	196227526	rs977157 - 1229710	G/G	Benign	Developmental And Epileptic Encephalopathy 57 Not Provided	SNV	SO:0001619 non-coding_transcript_variantSO:0001819 synonymous_variant	MONDO MedGen:C4540411 OMIM:617771 MedGen:CN517202	KCNT2	Germline		NC_000001.10:g.196227526A>G	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1220964
1	196620917	rs3753394 - 1249325	C/T	Benign	Not Provided	SNV		MedGen:CN517202	CFH	Germline		NC_000001.10:g.196620917C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1238416
1	196642072	rs551397 - 1209735	C/T	Benign	Not Provided Age Related Macular Degeneration 4 Hemolytic Uremic Syndrome Atypical Susceptibility To 1 Factor H Deficiency Basal Laminar Drusen	SNV	intron_variant	MedGen:CN517202 MONDO MedGen:C1853147 OMIM:610698 MONDO MedGen:C2749604 OMIM:235400 Orphanet:2134 Orphanet:90038 MONDO MedGen:C0398777 OMIM:609814 MONDO MedGen:C0730295 OMIM:126700 Orphanet:75376	CFH	Germline		NC_000001.10:g.196642072C>T	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1199677
1	196642233	rs800292 - 16550	G/A	Benign	Hemolytic Uremic Syndrome Atypical Susceptibility To 1 CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II Factor H Deficiency Not Provided Focal Segmental Glomerulosclerosis Age Related Macular Degeneration 4 Basal Laminar Drusen	SNV	missense_variant	MONDO MedGen:C2749604 OMIM:235400 Orphanet:2134 Orphanet:90038 MedGen:CN071292 MONDO MedGen:C0398777 OMIM:609814 MedGen:CN517202 Human_Phenotype_Ontology:HP:0000097 Human_Phenotype_Ontology:HP:0004747 MONDO MedGen:C0017668 MONDO MedGen:C1853147 OMIM:610698 MONDO MedGen:C0730295 OMIM:126700 Orphanet:75376	CFH	Germline		NC_000001.10:g.196642233G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA126660 OMIM:134370.0009	800292	Single Nucleotide Variant	0.32095		0.46805	31589
1	196654324	rs1061147 - 294488	C/A	Benign	Atypical Hemolytic-Uremic Syndrome Basal Laminar Drusen Factor H Deficiency CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II Hemolytic Uremic Syndrome Atypical Susceptibility To 1 Not Provided Age Related Macular Degeneration 4	SNV	synonymous_variant	MONDO MedGen:C2931788 Orphanet:2134 MONDO MedGen:C0730295 OMIM:126700 Orphanet:75376 MONDO MedGen:C0398777 OMIM:609814 MedGen:CN071292 MONDO MedGen:C2749604 OMIM:235400 Orphanet:2134 Orphanet:90038 MedGen:CN517202 MONDO MedGen:C1853147 OMIM:610698	CFH	Germline		NC_000001.10:g.196654324A>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1305200	1061147	Single Nucleotide Variant	0.66662	0.60810	0.71306	279197
1	196682947	i5040603 - 294491	A/G	Benign	Atypical Hemolytic-Uremic Syndrome Basal Laminar Drusen Factor H Deficiency CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II Hemolytic Uremic Syndrome Atypical Susceptibility To 1 Not Provided Age Related Macular Degeneration 4	SNV	synonymous_variant	MONDO MedGen:C2931788 Orphanet:2134 MONDO MedGen:C0730295 OMIM:126700 Orphanet:75376 MONDO MedGen:C0398777 OMIM:609814 MedGen:CN071292 MONDO MedGen:C2749604 OMIM:235400 Orphanet:2134 Orphanet:90038 MedGen:CN517202 MONDO MedGen:C1853147 OMIM:610698	CFH	Germline		NC_000001.10:g.196682947G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1305392	2274700	Single Nucleotide Variant	0.44309	0.42619	0.47903	279359
1	196709833	i5040568 - 294511	C/T	Conflicting Interpretations Of Pathogenicity	Basal Laminar Drusen CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II Non-Immunoglobulin-Mediated Membranoproliferative Glomerulonephritis Not Provided Age Related Macular Degeneration 4 Hemolytic Uremic Syndrome Atypical Susceptibility To 1 Atypical Hemolytic-Uremic Syndrome	SNV	missense_variant	MONDO MedGen:C0730295 OMIM:126700 Orphanet:75376 MedGen:CN071292 MONDO MedGen:C4087273 Orphanet:329918 MedGen:CN517202 MONDO MedGen:C1853147 OMIM:610698 MONDO MedGen:C2749604 OMIM:235400 Orphanet:2134 Orphanet:90038 MONDO MedGen:C2931788 Orphanet:2134	CFH	Germline		NC_000001.10:g.196709833C>T	Criteria Provided Conflicting Interpretations	Clingen:CA1305764	145975787	Single Nucleotide Variant	0.00121	0.00115	0.00120	279207			Uncertain_significance(1)\|Benign(1)\|Likely_benign(7)
1	196920148	rs4085749 - 1231528	T/C	Benign	Not Provided	SNV	SO:0001627 intron_variantSO:0001819 synonymous_variant	MedGen:CN517202	CFHR2	Germline		NC_000001.10:g.196920148C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1220201
1	196978615	rs10922153 - 294562	T/G	Benign	CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II	SNV	3_prime_UTR_variant	MedGen:CN071292	CFHR5	Germline		NC_000001.10:g.196978615T>G	Criteria Provided Single Submitter	Clingen:CA10608679	10922153	Single Nucleotide Variant			0.27776	278235
1	197009508	rs12134960 - 1245718	G/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	F13B	Germline		NC_000001.10:g.197009508G>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1234387
1	197009798	rs5998 - 258504	G/G	Benign	Not Specified Factor XIII B Subunit Deficiency Of Not Provided	SNV	synonymous_variant	MedGen:CN169374 Human_Phenotype_Ontology:HP:0040234 MONDO MedGen:C2750481 OMIM:613235 Orphanet:331 MedGen:CN517202	F13B	Germline		NC_000001.10:g.197009798A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1308229	5998	Single Nucleotide Variant	0.52701	0.38861	0.52496	249586
1	197031021	rs6003 - 16520	T/T	Benign	Not Specified Not Provided Factor XIII B Subunit Deficiency Of Venous Thrombosis Susceptibility To	SNV	missense_variant	MedGen:CN169374 MedGen:CN517202 Human_Phenotype_Ontology:HP:0040234 MONDO MedGen:C2750481 OMIM:613235 Orphanet:331 MedGen:C4016042	F13B	Germline		NC_000001.10:g.197031021C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA210740 OMIM:134580.0003 Uniprotkb:P05160#VAR 013931	6003	Single Nucleotide Variant	0.87197		0.76178	31559
1	197053373	rs12677 - 294591	A/A	Benign	Not Provided Microcephaly 5 Primary Autosomal Recessive	SNV	3_prime_UTR_variant	MedGen:CN517202 MONDO MedGen:C1837501 OMIM:608716 Orphanet:2512	ASPM	Germline		NC_000001.10:g.197053373G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA10608697	12677	Single Nucleotide Variant			0.78235	278274
1	197055782	rs10733087 - 678055	C/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ASPM	Germline		NC_000001.10:g.197055782T>C	Criteria Provided Single Submitter		10733087	Single Nucleotide Variant			0.78215	657204
1	197055925	rs10754213 - 157775	C/C	Benign	Not Specified Not Provided Microcephaly 5 Primary Autosomal Recessive	SNV	intron_variant	MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C1837501 OMIM:608716 Orphanet:2512	ASPM	Germline		NC_000001.10:g.197055925T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA171171	10754213	Single Nucleotide Variant	0.87863	0.75512	0.78275	167622
1	197070776	rs10922162 - 21603	C/T	Benign	Not Specified Not Provided Microcephaly 5 Primary Autosomal Recessive	SNV	SO:0001627 intron_variantSO:0001819 synonymous_variant	MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C1837501 OMIM:608716 Orphanet:2512	ASPM	Germline		NC_000001.10:g.197070776C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA171250	10922162	Single Nucleotide Variant	0.23960	0.11486	0.29493	34455
1	197070815	rs1412640 - 21602	C/C	Benign	Not Specified Not Provided Microcephaly 5 Primary Autosomal Recessive	SNV	SO:0001627 intron_variantSO:0001819 synonymous_variant	MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C1837501 OMIM:608716 Orphanet:2512	ASPM	Germline		NC_000001.10:g.197070815T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA171246	1412640	Single Nucleotide Variant	0.88756	0.78692	0.81590	34454
1	197070901	rs964201 - 21599	G/G	Benign	Not Specified Not Provided Microcephaly 5 Primary Autosomal Recessive	SNV	SO:0001583 missense_variantSO:0001627 intron_variant	MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C1837501 OMIM:608716 Orphanet:2512	ASPM	Germline		NC_000001.10:g.197070901A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA171242 Uniprotkb:Q8IZT6#VAR 046760	964201	Single Nucleotide Variant	0.99560	0.99569	0.99740	34451
1	197091537	rs4915337 - 21578	T/T	Benign	Not Specified Not Provided Microcephaly 5 Primary Autosomal Recessive	SNV	synonymous_variant	MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C1837501 OMIM:608716 Orphanet:2512	ASPM	Germline		NC_000001.10:g.197091537A>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA171199	4915337	Single Nucleotide Variant	0.87788	0.75473	0.78255	34430
1	197094030	rs6676084 - 21573	C/T	Benign	Not Specified Not Provided Microcephaly 5 Primary Autosomal Recessive	SNV	synonymous_variant	MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C1837501 OMIM:608716 Orphanet:2512	ASPM	Germline		NC_000001.10:g.197094030C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA171194	6676084	Single Nucleotide Variant	0.28011	0.26353	0.21665	34425
1	197102745	rs4915344 - 95887	A/G	Benign	Not Specified Not Provided Microcephaly 5 Primary Autosomal Recessive	SNV	intron_variant	MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C1837501 OMIM:608716 Orphanet:2512	ASPM	Germline		NC_000001.10:g.197102745A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA149004	4915344	Single Nucleotide Variant	0.24159	0.11404	0.29972	101783
1	197112533	rs6677082 - 95890	A/A	Benign	Not Specified Not Provided Microcephaly 5 Primary Autosomal Recessive	SNV	synonymous_variant	MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C1837501 OMIM:608716 Orphanet:2512	ASPM	Germline		NC_000001.10:g.197112533G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA149008	6677082	Single Nucleotide Variant	0.86978	0.73078	0.75559	101786
1	197325908	rs2786098 - 1177043	G/G	Benign	Retinitis Pigmentosa 12 Leber Congenital Amaurosis 8 Pigmented Paravenous Retinochoroidal Atrophy Not Provided	SNV	intron_variant	MONDO MedGen:C1838647 OMIM:600105 Orphanet:791 MONDO MedGen:C3151202 OMIM:613835 Orphanet:65 MONDO MedGen:C1868310 OMIM:172870 Orphanet:251295 MedGen:CN517202	CRB1	Germline		NC_000001.10:g.197325908T>G	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1166497
1	197390368	rs3902057 - 166956	G/G	Benign	Not Specified Leber Congenital Amaurosis Pigmented Paravenous Retinochoroidal Atrophy Leber Congenital Amaurosis 8 Retinitis Pigmentosa 12	SNV	SO:0001619 non-coding_transcript_variantSO:0001819 synonymous_variant	MedGen:CN169374 MONDO MeSH:D057130 MedGen:C0339527 OMIM:PS204000 Orphanet:65 MONDO MedGen:C1868310 OMIM:172870 Orphanet:251295 MONDO MedGen:C3151202 OMIM:613835 Orphanet:65 MONDO MedGen:C1838647 OMIM:600105 Orphanet:791	CRB1	Germline		NC_000001.10:g.197390368A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA179932	3902057	Single Nucleotide Variant	0.97806	0.92104	0.91973	177648
1	200534651	rs75449932 - 445909	T/G	Benign/Likely Benign	Not Provided	SNV	missense_variant	MedGen:CN517202	KIF14	Germline		NC_000001.10:g.200534651T>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1317150	75449932	Single Nucleotide Variant	0.00636	0.00439	0.00260	439181
1	200569392	rs2809357 - 1278899	A/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	KIF14	Germline		NC_000001.10:g.200569392C>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1266185
1	200575794	rs2794410 - 1226287	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	KIF14	Germline		NC_000001.10:g.200575794A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1217541
1	200583380	rs2808241 - 1264085	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	KIF14	Germline		NC_000001.10:g.200583380T>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1253983
1	201009556	rs1546416 - 678243	A/G	Benign	Hypokalemic Periodic Paralysis Type 1 Not Provided	SNV	intron_variant	MONDO MedGen:C3714580 OMIM:170400 Orphanet:681 MedGen:CN517202	CACNA1S	Germline		NC_000001.10:g.201009556A>G	Criteria Provided Multiple Submitters No Conflicts		1546416	Single Nucleotide Variant			0.33247	657229
1	201020105	rs6702590 - 199680	G/G	Benign	Hypokalemic Periodic Paralysis Type 1 Malignant Hyperthermia Susceptibility To 5 Not Specified Not Provided	SNV	intron_variant	MONDO MedGen:C3714580 OMIM:170400 Orphanet:681 MONDO MedGen:C1866077 OMIM:601887 Orphanet:423 MedGen:CN169374 MedGen:CN517202	CACNA1S	Germline		NC_000001.10:g.201020105A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA004062	6702590	Single Nucleotide Variant	0.77049	0.75481	0.88039	196497
1	201023436	rs3818873 - 1238693	T/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	CACNA1S	Germline		NC_000001.10:g.201023436C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1227821
1	201030668	rs2297904 - 678301	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	CACNA1S	Germline		NC_000001.10:g.201030668G>A	Criteria Provided Single Submitter		2297904	Single Nucleotide Variant			0.26578	657237
1	201031307	rs2297903 - 1192645	C/A	Benign	Not Provided Hypokalemic Periodic Paralysis Type 1	SNV	intron_variant	MedGen:CN517202 MONDO MedGen:C3714580 OMIM:170400 Orphanet:681	CACNA1S	Germline		NC_000001.10:g.201031307A>C	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1182550
1	201038687	rs7415038 - 254814	A/G	Benign	Hypokalemic Periodic Paralysis Type 1 Malignant Hyperthermia Susceptibility To 5 Not Specified Not Provided	SNV	synonymous_variant	MONDO MedGen:C3714580 OMIM:170400 Orphanet:681 MONDO MedGen:C1866077 OMIM:601887 Orphanet:423 MedGen:CN169374 MedGen:CN517202	CACNA1S	Germline		NC_000001.10:g.201038687A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA078982	7415038	Single Nucleotide Variant	0.40335	0.47172	0.29413	249625
1	201044748	rs1998721 - 254804	G/A	Benign/Likely Benign	Hypokalemic Periodic Paralysis Type 1 Malignant Hyperthermia Susceptibility To 5 Not Provided Thyrotoxic Periodic Paralysis Susceptibility To 1 Not Specified	SNV	intron_variant	MONDO MedGen:C3714580 OMIM:170400 Orphanet:681 MONDO MedGen:C1866077 OMIM:601887 Orphanet:423 MedGen:CN517202 MONDO MedGen:C2749982 OMIM:188580 Orphanet:79102 MedGen:CN169374	CACNA1S	Germline		NC_000001.10:g.201044748A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA078615	1998721	Single Nucleotide Variant	0.78137	0.70329	0.75959	249634
1	201047062	rs4915476 - 254801	G/A	Benign	Hypokalemic Periodic Paralysis Type 1 Malignant Hyperthermia Susceptibility To 5 Not Specified	SNV	synonymous_variant	MONDO MedGen:C3714580 OMIM:170400 Orphanet:681 MONDO MedGen:C1866077 OMIM:601887 Orphanet:423 MedGen:CN169374	CACNA1S	Germline		NC_000001.10:g.201047062G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA078403	4915476	Single Nucleotide Variant	0.20722	0.23735	0.19090	249637
1	201047075	rs4915477 - 254800	G/G	Benign	Hypokalemic Periodic Paralysis Type 1 Malignant Hyperthermia Susceptibility To 5 Not Provided Not Specified	SNV	synonymous_variant	MONDO MedGen:C3714580 OMIM:170400 Orphanet:681 MONDO MedGen:C1866077 OMIM:601887 Orphanet:423 MedGen:CN517202 MedGen:CN169374	CACNA1S	Germline		NC_000001.10:g.201047075A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA078394	4915477	Single Nucleotide Variant	0.58393	0.73605	0.57109	249638
1	201047111	rs9427714 - 254797	A/G	Benign	Hypokalemic Periodic Paralysis Type 1 Malignant Hyperthermia Susceptibility To 5 Not Specified	SNV	synonymous_variant	MONDO MedGen:C3714580 OMIM:170400 Orphanet:681 MONDO MedGen:C1866077 OMIM:601887 Orphanet:423 MedGen:CN169374	CACNA1S	Germline		NC_000001.10:g.201047111A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA078284	9427714	Single Nucleotide Variant	0.24490	0.27664	0.12700	249640
1	201052199	rs3767511 - 678296	T/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	CACNA1S	Germline		NC_000001.10:g.201052199T>C	Criteria Provided Single Submitter		3767511	Single Nucleotide Variant			0.18690	657285
1	201052640	rs4915478 - 678219	A/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	CACNA1S	Germline		NC_000001.10:g.201052640G>A	Criteria Provided Single Submitter		4915478	Single Nucleotide Variant			0.78315	657249
1	201058692	rs2296384 - 678218	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	CACNA1S	Germline		NC_000001.10:g.201058692T>C	Criteria Provided Single Submitter		2296384	Single Nucleotide Variant			0.52177	657290
1	201288007	rs1794868 - 1182691	A/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	PKP1	Germline		NC_000001.10:g.201288007G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1170649
1	201288955	rs1626370 - 1262820	G/A	Benign	Not Provided	SNV	SO:0001583 missense_variantSO:0001627 intron_variant	MedGen:CN517202	PKP1	Germline		NC_000001.10:g.201288955G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1252729
1	201291551	rs1772833 - 1296400	A/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	PKP1	Germline		NC_000001.10:g.201291551G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1286193
1	201292110	rs1779288 - 1231739	C/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	PKP1	Germline		NC_000001.10:g.201292110T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1220410
1	201293985	rs854505 - 1263940	A/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	PKP1	Germline		NC_000001.10:g.201293985G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1253838
1	201299470	rs947376 - 294839	C/C	Benign	Epidermolysis Bullosa Simplex Due To Plakophilin Deficiency	SNV	3_prime_UTR_variant	MONDO MedGen:C1858302 OMIM:604536 Orphanet:158668	PKP1	Germline		NC_000001.10:g.201299470A>C	Criteria Provided Single Submitter	Clingen:CA10608785	947376	Single Nucleotide Variant			0.67193	278505
1	201299785	rs2365648 - 294847	C/C	Benign	Epidermolysis Bullosa Simplex Due To Plakophilin Deficiency	SNV	3_prime_UTR_variant	MONDO MedGen:C1858302 OMIM:604536 Orphanet:158668	PKP1	Germline		NC_000001.10:g.201299785A>C	Criteria Provided Single Submitter	Clingen:CA10608754	2365648	Single Nucleotide Variant			0.80132	278428
1	201299852	rs1105331 - 294851	G/G	Benign	Epidermolysis Bullosa Simplex Due To Plakophilin Deficiency	SNV	3_prime_UTR_variant	MONDO MedGen:C1858302 OMIM:604536 Orphanet:158668	PKP1	Germline		NC_000001.10:g.201299852A>G	Criteria Provided Single Submitter	Clingen:CA10608788	1105331	Single Nucleotide Variant			0.62740	278508
1	201300842	rs10920175 - 294871	C/C	Benign	Epidermolysis Bullosa Simplex Due To Plakophilin Deficiency	SNV	3_prime_UTR_variant	MONDO MedGen:C1858302 OMIM:604536 Orphanet:158668	PKP1	Germline		NC_000001.10:g.201300842T>C	Criteria Provided Single Submitter	Clingen:CA10609400	10920175	Single Nucleotide Variant			0.90415	279691
1	201301053	rs17425876 - 294875	G/A	Benign	Epidermolysis Bullosa Simplex Due To Plakophilin Deficiency	SNV	3_prime_UTR_variant	MONDO MedGen:C1858302 OMIM:604536 Orphanet:158668	PKP1	Germline		NC_000001.10:g.201301053G>A	Criteria Provided Single Submitter	Clingen:CA10609401	17425876	Single Nucleotide Variant			0.12141	279694
1	201334382	rs3729547 - 43632	A/G	Benign/Likely Benign	Dilated Cardiomyopathy Dominant Cardiovascular Phenotype Familial Restrictive Cardiomyopathy Not Specified Not Provided Dilated Cardiomyopathy 1D Cardiomyopathy Familial Restrictive 3 Hypertrophic Cardiomyopathy 2 Cardiomyopathy Hypertrophic Cardiomyopathy Left Ventricular Noncompaction Cardiomyopathy	SNV	SO:0001627 intron_variantSO:0001819 synonymous_variant	MedGen:CN239310 MedGen:CN230736 MONDO MedGen:C0340429 OMIM:PS115210 Orphanet:217635 MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C1832243 OMIM:601494 Orphanet:154 Orphanet:54260 MONDO MedGen:C2676271 OMIM:612422 Orphanet:75249 MONDO MedGen:C1861864 OMIM:115195 Human_Phenotype_Ontology:HP:0001638 MONDO MedGen:C0878544 Orphanet:167848 Human_Phenotype_Ontology:HP:0001639 MONDO MeSH:D002312 MedGen:C0007194 Orphanet:217569 Human_Phenotype_Ontology:HP:0011664 MedGen:C4021133	TNNT2	Germline		NC_000001.10:g.201334382G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA004354	3729547	Single Nucleotide Variant	0.71940	0.68276	0.69509	52801
1	201335899	rs1573230 - 1233312	T/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	TNNT2	Germline		NC_000001.10:g.201335899C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1222434
1	201341341	rs868407 - 1290285	T/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	TNNT2	Germline		NC_000001.10:g.201341341C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1280113
1	202566200	rs9633344 - 1238857	C/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	SYT2	Germline		NC_000001.10:g.202566200T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1226694
1	202568735	rs907697 - 1233900	T/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	SYT2	Germline		NC_000001.10:g.202568735T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1225566
1	202569154	rs907698 - 1268976	A/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	SYT2	Germline		NC_000001.10:g.202569154G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1261407
1	202570776	rs10800842 - 1234315	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	SYT2	Germline		NC_000001.10:g.202570776G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1224719
1	202715284	rs1141108 - 1293636	A/G	Benign	Not Provided Intellectual Disability Autosomal Recessive 65	SNV	synonymous_variant	MedGen:CN517202 MONDO MedGen:C4748219 OMIM:618109	KDM5B	Germline		NC_000001.10:g.202715284G>A	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1283438
1	202718202	rs1892164 - 1300060	A/G	Benign	Intellectual Disability Autosomal Recessive 65	SNV	synonymous_variant	MONDO MedGen:C4748219 OMIM:618109	KDM5B	Germline		NC_000001.10:g.202718202G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1290225
1	202733238	rs3196669 - 1300061	T/C	Benign	Not Provided Intellectual Disability Autosomal Recessive 65	SNV	synonymous_variant	MedGen:CN517202 MONDO MedGen:C4748219 OMIM:618109	KDM5B	Germline		NC_000001.10:g.202733238C>T	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1290226
1	203652444	rs1419114 - 1598820	G/G	Benign	Not Provided	SNV	synonymous_variant	MedGen:CN517202	ATP2B4	Germline		NC_000001.10:g.203652444A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1630816
1	203677250	rs3753036 - 1578067	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ATP2B4	Germline		NC_000001.10:g.203677250G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1522495
1	203681085	rs2275321 - 1589766	T/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ATP2B4	Germline		NC_000001.10:g.203681085T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1576312
1	204124865	rs2368564 - 1239591	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	REN	Germline		NC_000001.10:g.204124865C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1229919
1	204125089	rs3795575 - 1236555	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	REN	Germline		NC_000001.10:g.204125089G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1228264
1	204129554	rs1917539 - 1226180	T/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	REN	Germline		NC_000001.10:g.204129554T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1214859
1	204379617	rs3014626 - 2113113	C/C	Benign	Not Provided	sequence_alteration	no_sequence_alteration	MedGen:CN517202	PPP1R15B	Germline		NC_000001.10:g.204379617T>C	Criteria Provided Single Submitter			Variation				2164401
1	204943947	rs2246662 - 1325902	A/A	Benign	Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	SNV	SO:0001619 non-coding_transcript_variantSO:0001819 synonymous_variant	MONDO MedGen:C5193049 OMIM:618356	NFASC	Germline		NC_000001.10:g.204943947C>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1316162
1	205027737	rs2275697 - 1170111	A/A	Benign	Epilepsy Familial Adult Myoclonic 5	SNV	SO:0001583 missense_variantSO:0001619 non-coding_transcript_variant	MONDO MedGen:C3809374 OMIM:615400 Orphanet:86814	CNTN2	Germline		NC_000001.10:g.205027737G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1153425
1	205031116	rs2229866 - 801606	T/T	Benign	Epilepsy Familial Adult Myoclonic 5	SNV	SO:0001583 missense_variantSO:0001619 non-coding_transcript_variant	MONDO MedGen:C3809374 OMIM:615400 Orphanet:86814	CNTN2	Germline		NC_000001.10:g.205031116C>T	Criteria Provided Multiple Submitters No Conflicts		2229866	Single Nucleotide Variant	0.47535	0.34105	0.55112	789914
1	205041158	rs2229868 - 1168203	T/T	Benign	Epilepsy Familial Adult Myoclonic 5 Not Provided	SNV	SO:0001619 non-coding_transcript_variantSO:0001819 synonymous_variant	MONDO MedGen:C3809374 OMIM:615400 Orphanet:86814 MedGen:CN517202	CNTN2	Germline		NC_000001.10:g.205041158C>T	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1153427
1	205119581	rs12120595 - 1240584	T/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	DSTYK	Germline		NC_000001.10:g.205119581C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1231407
1	205130413	rs3851294 - 260657	G/G	Benign	Hereditary Spastic Paraplegia 23 Not Specified Congenital Anomalies Of Kidney And Urinary Tract 1 Not Provided	SNV	missense_variant	MONDO MedGen:C0796019 OMIM:270750 Orphanet:101003 MedGen:CN169374 Gene:100034704 MONDO MedGen:C1835826 OMIM:610805 MedGen:CN517202	DSTYK	Germline		NC_000001.10:g.205130413A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1352716	3851294	Single Nucleotide Variant	0.93167	0.93019	0.96106	249675
1	205764640	rs823156 - 1183197	A/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	SLC41A1	Germline		NC_000001.10:g.205764640G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1170650
1	206944233	rs1554286 - 1166834	G/A	Benign	Inflammatory Bowel Disease	SNV	SO:0001623 5_prime_UTR_variantSO:0001627 intron_variant	MONDO MedGen:C0021390 OMIM:PS266600 Orphanet:104012	IL10	Germline		NC_000001.10:g.206944233A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1153432
1	206944645	rs1518111 - 1166835	C/T	Benign	Inflammatory Bowel Disease	SNV	intron_variant	MONDO MedGen:C0021390 OMIM:PS266600 Orphanet:104012	IL10	Germline		NC_000001.10:g.206944645T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1153433
1	206946407	rs1800872 - 16873	G/T	Benign	Graft-Versus-Host Disease Resistance To Inflammatory Bowel Disease Susceptibility To HIV Infection	SNV	intron_variant	MedGen:C3280678 MONDO MedGen:C0021390 OMIM:PS266600 Orphanet:104012 MONDO MedGen:C1836230 OMIM:609423	IL10	Germline		NC_000001.10:g.206946407T>G	Criteria Provided Single Submitter	Clingen:CA10699290 OMIM:124092.0001	1800872	Single Nucleotide Variant			0.56510	31912
1	206946634	rs1800871 - 1166836	G/A	Benign	Leprosy Susceptibility To 1 Inflammatory Bowel Disease	SNV	intron_variant	MONDO MedGen:C1835932 OMIM:609888 Orphanet:548 MONDO MedGen:C0021390 OMIM:PS266600 Orphanet:104012	IL10	5		NC_000001.10:g.206946634A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1153434
1	206946897	rs1800896 - 1710531	T/C	Uncertain Risk Allele	Leprosy Susceptibility To 1	SNV	intron_variant	MONDO MedGen:C1835932 OMIM:609888 Orphanet:548	IL10	Inherited		NC_000001.10:g.206946897T>C	No Assertion Criteria Provided			Single Nucleotide Variant				1708942
1	207262980	rs12711513 - 1274277	G/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	C4BPB	Germline		NC_000001.10:g.207262980T>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1262452
1	207263829	rs6690037 - 402446	G/A	Benign	Not Specified Not Provided	SNV	intron_variant	MedGen:CN169374 MedGen:CN517202	C4BPB	Germline		NC_000001.10:g.207263829A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1367223	6690037	Single Nucleotide Variant	0.50170	0.37075	0.44349	389372
1	207273492	rs55704964 - 1247682	G/A	Benign	Not Provided	SNV		MedGen:CN517202	C4BPB	Germline		NC_000001.10:g.207273492G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1235061
1	207286757	rs12075573 - 1278073	T/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	C4BPA	Germline		NC_000001.10:g.207286757T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1267951
1	207287187	rs2808470 - 1267035	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	C4BPA	Germline		NC_000001.10:g.207287187C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1254358
1	207297680	rs1126618 - 402444	C/T	Benign	Not Provided Not Specified	SNV	synonymous_variant	MedGen:CN517202 MedGen:CN169374	C4BPA	Germline		NC_000001.10:g.207297680T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1367605	1126618	Single Nucleotide Variant	0.85449	0.86099	0.85783	389358
1	207300259	rs2491393 - 1271178	A/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	C4BPA	Germline		NC_000001.10:g.207300259A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1261030
1	207304900	rs4844573 - 402445	T/C	Benign	Not Provided Not Specified	SNV	missense_variant	MedGen:CN517202 MedGen:CN169374	C4BPA	Germline		NC_000001.10:g.207304900T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1367671	4844573	Single Nucleotide Variant	0.40141	0.48408	0.48982	389345
1	207640345	rs1032980 - 1230919	T/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	CR2	Germline		NC_000001.10:g.207640345G>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1222168
1	207646322	rs1048971 - 402558	G/A	Benign	Not Specified Not Provided Immunodeficiency Common Variable 7	SNV	synonymous_variant	MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C3542922 OMIM:614699 Orphanet:1572	CR2	Germline	MONDO:MONDO:0012584MedGen:C1970455OMIM:610927	NC_000001.10:g.207646322G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1368807 OMIM:120650.0001	1048971	Single Nucleotide Variant	0.35047	0.46840	0.40036	389365	Systemic lupus erythematosus susceptibility to 9	17065:risk_factor
1	207653395	rs6540433 - 402562	A/C	Benign	Not Specified Immunodeficiency Common Variable 7 Not Provided	SNV	missense_variant	MedGen:CN169374 MONDO MedGen:C3542922 OMIM:614699 Orphanet:1572 MedGen:CN517202	CR2	Germline		NC_000001.10:g.207653395C>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1369167	17617	Single Nucleotide Variant	0.88354	0.87879	0.94289	389350
1	207924906	rs2796267 - 1280415	A/G	Benign	Not Provided	SNV		MedGen:CN517202	CD46	Germline		NC_000001.10:g.207924906G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1272511
1	207925192	rs2796268 - 1247101	A/G	Benign	Not Provided	SNV		MedGen:CN517202	CD46	Germline		NC_000001.10:g.207925192G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1235764
1	207930203	rs2724384 - 1257176	A/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	CD46	Germline		NC_000001.10:g.207930203G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1246673
1	207940046	rs2466571 - 1280768	T/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	CD46	Germline		NC_000001.10:g.207940046G>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1272864
1	207940853	rs11118555 - 1289553	T/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	CD46	Germline		NC_000001.10:g.207940853T>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1279384
1	207967719	rs7144 - 294983	T/C	Benign	Atypical Hemolytic-Uremic Syndrome With MCP/CD46 Anomaly	SNV	3_prime_UTR_variant	MONDO MedGen:C2752040 OMIM:612922 Orphanet:2134	CD46	Germline		NC_000001.10:g.207967719T>C	Criteria Provided Single Submitter	Clingen:CA10608930	7144	Single Nucleotide Variant			0.34724	278756
1	208207839	rs3736963 - 1164720	G/A	Benign	Not Provided	SNV	synonymous_variant	MedGen:CN517202	PLXNA2	Germline		NC_000001.10:g.208207839G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1153451
1	208390155	rs4844657 - 1166244	C/T	Benign	Not Provided	SNV	synonymous_variant	MedGen:CN517202	PLXNA2	Germline		NC_000001.10:g.208390155C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1153458
1	208390162	rs4844658 - 1166245	T/C	Benign	Not Provided	SNV	missense_variant	MedGen:CN517202	PLXNA2	Germline		NC_000001.10:g.208390162T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1153459
1	209799253	rs2179402 - 255587	G/G	Benign	Not Specified Junctional Epidermolysis Bullosa Non-Herlitz Type Amelogenesis Imperfecta Type 1A Junctional Epidermolysis Bullosa Not Provided Junctional Epidermolysis Bullosa Gravis Of Herlitz	SNV	synonymous_variant	MedGen:CN169374 MONDO MedGen:C0268374 OMIM:226650 Orphanet:251393 Orphanet:79402 Orphanet:79405 Orphanet:89840 MONDO MedGen:C4011403 OMIM:104530 Orphanet:88661 MONDO MedGen:C0079301 OMIM:PS226650 Orphanet:305 MedGen:CN517202 MONDO MedGen:C0079683 OMIM:226700 Orphanet:79404	LAMB3	Germline		NC_000001.10:g.209799253A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1375484	2179402	Single Nucleotide Variant	0.75645	0.74600	0.76498	249684
1	209804095	rs4844863 - 255598	A/A	Benign	Junctional Epidermolysis Bullosa Gravis Of Herlitz Junctional Epidermolysis Bullosa Non-Herlitz Type Amelogenesis Imperfecta Type 1A Junctional Epidermolysis Bullosa Not Specified Not Provided	SNV	intron_variant	MONDO MedGen:C0079683 OMIM:226700 Orphanet:79404 MONDO MedGen:C0268374 OMIM:226650 Orphanet:251393 Orphanet:79402 Orphanet:79405 Orphanet:89840 MONDO MedGen:C4011403 OMIM:104530 Orphanet:88661 MONDO MedGen:C0079301 OMIM:PS226650 Orphanet:305 MedGen:CN169374 MedGen:CN517202	LAMB3	Germline		NC_000001.10:g.209804095G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1375812	4844863	Single Nucleotide Variant	0.84717	0.84061	0.82328	249689
1	209807782	rs12410975 - 295136	C/T	Benign	Junctional Epidermolysis Bullosa Junctional Epidermolysis Bullosa Non-Herlitz Type Amelogenesis Imperfecta Type 1A Junctional Epidermolysis Bullosa Gravis Of Herlitz Not Provided	SNV	intron_variant	MONDO MedGen:C0079301 OMIM:PS226650 Orphanet:305 MONDO MedGen:C0268374 OMIM:226650 Orphanet:251393 Orphanet:79402 Orphanet:79405 Orphanet:89840 MONDO MedGen:C4011403 OMIM:104530 Orphanet:88661 MONDO MedGen:C0079683 OMIM:226700 Orphanet:79404 MedGen:CN517202	LAMB3	Germline		NC_000001.10:g.209807782C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1375932	12410975	Single Nucleotide Variant	0.04954	0.01461	0.07947	278677
1	209807815	rs2235542 - 295139	T/C	Benign	Junctional Epidermolysis Bullosa Not Provided	SNV	missense_variant	MONDO MedGen:C0079301 OMIM:PS226650 Orphanet:305 MedGen:CN517202	LAMB3	Germline		NC_000001.10:g.209807815T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1375943 Uniprotkb:Q13751#VAR 037309	2235542	Single Nucleotide Variant	0.05354	0.01630	0.08506	280043
1	209807972	rs1130667 - 255596	G/A	Benign	Junctional Epidermolysis Bullosa Non-Herlitz Type Amelogenesis Imperfecta Type 1A Junctional Epidermolysis Bullosa Not Specified Not Provided Junctional Epidermolysis Bullosa Gravis Of Herlitz	SNV	synonymous_variant	MONDO MedGen:C0268374 OMIM:226650 Orphanet:251393 Orphanet:79402 Orphanet:79405 Orphanet:89840 MONDO MedGen:C4011403 OMIM:104530 Orphanet:88661 MONDO MedGen:C0079301 OMIM:PS226650 Orphanet:305 MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C0079683 OMIM:226700 Orphanet:79404	LAMB3	Germline		NC_000001.10:g.209807972G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1375984	1130667	Single Nucleotide Variant	0.36248	0.31370	0.24541	249691
1	209811886	rs2076356 - 255592	T/G	Benign	Not Provided Not Specified Amelogenesis Imperfecta Type 1A Junctional Epidermolysis Bullosa Junctional Epidermolysis Bullosa Gravis Of Herlitz Junctional Epidermolysis Bullosa Non-Herlitz Type	SNV	synonymous_variant	MedGen:CN517202 MedGen:CN169374 MONDO MedGen:C4011403 OMIM:104530 Orphanet:88661 MONDO MedGen:C0079301 OMIM:PS226650 Orphanet:305 MONDO MedGen:C0079683 OMIM:226700 Orphanet:79404 MONDO MedGen:C0268374 OMIM:226650 Orphanet:251393 Orphanet:79402 Orphanet:79405 Orphanet:89840	LAMB3	Germline		NC_000001.10:g.209811886T>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1376048	2076356	Single Nucleotide Variant	0.57094	0.57458	0.43251	249694
1	209812063	rs2076357 - 1180480	C/C	Benign	Not Provided Junctional Epidermolysis Bullosa Gravis Of Herlitz Junctional Epidermolysis Bullosa Non-Herlitz Type Amelogenesis Imperfecta Type 1A	SNV	intron_variant	MedGen:CN517202 MONDO MedGen:C0079683 OMIM:226700 Orphanet:79404 MONDO MedGen:C0268374 OMIM:226650 Orphanet:251393 Orphanet:79402 Orphanet:79405 Orphanet:89840 MONDO MedGen:C4011403 OMIM:104530 Orphanet:88661	LAMB3	Germline		NC_000001.10:g.209812063T>C	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1170003
1	209959872	rs680331 - 295178	A/A	Benign	Orofacial Cleft 6 Susceptibility To Van Der Woude Syndrome 1	SNV	3_prime_UTR_variant	MONDO MedGen:C1837213 OMIM:608864 MONDO MedGen:C4551864 OMIM:119300	IRF6	Germline		NC_000001.10:g.209959872G>A	Criteria Provided Single Submitter	Clingen:CA10609672	680331	Single Nucleotide Variant			0.80811	280163
1	209965587	rs2235375 - 259926	C/C	Benign	Autosomal Dominant Popliteal Pterygium Syndrome Not Specified Not Provided	SNV	intron_variant	MONDO MedGen:CN296406 OMIM:119500 Orphanet:1300 MedGen:CN169374 MedGen:CN517202	IRF6	Germline		NC_000001.10:g.209965587G>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1377267	2235375	Single Nucleotide Variant		0.34453	0.40515	249700
1	209968684	rs2013162 - 259925	A/A	Benign	Autosomal Dominant Popliteal Pterygium Syndrome Not Provided Van Der Woude Syndrome Popliteal Pterygium Syndrome Orofacial Cleft 6 Susceptibility To Van Der Woude Syndrome 1 Not Specified	SNV	synonymous_variant	MONDO MedGen:CN296406 OMIM:119500 Orphanet:1300 MedGen:CN517202 MONDO MedGen:C0175697 Orphanet:888 MONDO MedGen:C0265259 Orphanet:294963 MONDO MedGen:C1837213 OMIM:608864 MONDO MedGen:C4551864 OMIM:119300 MedGen:CN169374	IRF6	Germline		NC_000001.10:g.209968684C>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1377324	2013162	Single Nucleotide Variant		0.34238	0.40375	249701
1	210577873	rs2066721 - 1263555	C/C	Benign	Not Provided	SNV	SO:0001627 intron_variantSO:0001819 synonymous_variant	MedGen:CN517202	HHAT	Germline		NC_000001.10:g.210577873G>C	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1250882
1	210857457	rs1135317 - 1243506	G/G	Benign	Zimmermann-Laband Syndrome 1 Temple-Baraitser Syndrome Not Provided	SNV	synonymous_variant	MONDO MedGen:C4551773 OMIM:135500 Orphanet:3473 MONDO MedGen:C2678486 OMIM:611816 Orphanet:420561 MedGen:CN517202	KCNH1	Germline		NC_000001.10:g.210857457A>G	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1232995
1	211191894	rs11582507 - 1243324	A/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	KCNH1	Germline		NC_000001.10:g.211191894G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1234096
1	213068595	rs3207090 - 129103	T/T	Benign	Not Specified Not Provided Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	SNV	missense_variant	MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C1836916 OMIM:609033 Orphanet:88628	FLVCR1	Germline		NC_000001.10:g.213068595C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA152895 Uniprotkb:Q9Y5Y0#VAR 050298	3207090	Single Nucleotide Variant	0.44923	0.38490	0.37939	134549
1	213069783	rs6682947 - 295352	G/G	Benign	Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	SNV	3_prime_UTR_variant	MONDO MedGen:C1836916 OMIM:609033 Orphanet:88628	FLVCR1	Germline		NC_000001.10:g.213069783A>G	Criteria Provided Single Submitter	Clingen:CA10609726	6682947	Single Nucleotide Variant			0.66374	280231
1	214542819	rs1135352 - 1263765	C/T	Benign	Not Provided Lymphedema-Posterior Choanal Atresia Syndrome	SNV	synonymous_variant	MedGen:CN517202 MONDO MedGen:C3150875 OMIM:613611 Orphanet:99141	PTPN14	Germline		NC_000001.10:g.214542819T>C	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1251091
1	214558228	rs3013446 - 1276291	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	PTPN14	Germline		NC_000001.10:g.214558228A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1268919
1	214571251	rs11580603 - 1274316	A/C	Benign	Lymphedema-Posterior Choanal Atresia Syndrome Not Provided	SNV	intron_variant	MONDO MedGen:C3150875 OMIM:613611 Orphanet:99141 MedGen:CN517202	PTPN14	Germline		NC_000001.10:g.214571251A>C	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1262491
1	214811244	rs2070065 - 1209808	G/G	Benign	Stromme Syndrome Not Provided	SNV	missense_variant	MONDO MedGen:C1855705 OMIM:243605 Orphanet:444069 MedGen:CN517202	CENPF	Germline		NC_000001.10:g.214811244C>G	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1199679
1	214814059	rs61732042 - 1263075	G/G	Benign	Not Provided	SNV	missense_variant	MedGen:CN517202	CENPF	Germline		NC_000001.10:g.214814059T>G	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1251694
1	214816224	rs2666839 - 1209669	A/A	Benign	Stromme Syndrome Not Provided	SNV	missense_variant	MONDO MedGen:C1855705 OMIM:243605 Orphanet:444069 MedGen:CN517202	CENPF	Germline		NC_000001.10:g.214816224G>A	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1199690
1	214826196	rs335524 - 1209682	A/G	Benign	Stromme Syndrome Not Provided	SNV	missense_variant	MONDO MedGen:C1855705 OMIM:243605 Orphanet:444069 MedGen:CN517202	CENPF	Germline		NC_000001.10:g.214826196G>A	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1199703
1	214828812	rs435043 - 1228039	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	CENPF	Germline		NC_000001.10:g.214828812A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1218005
1	214830617	rs438034 - 1209683	G/G	Benign	Stromme Syndrome Not Provided	SNV	missense_variant	MONDO MedGen:C1855705 OMIM:243605 Orphanet:444069 MedGen:CN517202	CENPF	Germline		NC_000001.10:g.214830617A>G	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1199704
1	214837110	i6058524 - 1209719	G/G	Benign	Stromme Syndrome Not Provided	SNV	missense_variant	MONDO MedGen:C1855705 OMIM:243605 Orphanet:444069 MedGen:CN517202	CENPF	Germline		NC_000001.10:g.214837110C>G	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1199705
1	215848587	rs2797234 - 48403	C/C	Benign	Not Specified Not Provided Usher Syndrome Type 2A	SNV	synonymous_variant	MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C1848634 OMIM:276901 Orphanet:231178 Orphanet:886	USH2A	Germline		NC_000001.10:g.215848587T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA143298	2797234	Single Nucleotide Variant	0.36509	0.33369	0.30312	57565
1	215848641	rs2797235 - 177993	C/C	Benign	Not Specified Not Provided Usher Syndrome Type 2A	SNV	synonymous_variant	MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C1848634 OMIM:276901 Orphanet:231178 Orphanet:886	USH2A	Germline		NC_000001.10:g.215848641T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA181134	2797235	Single Nucleotide Variant	0.76619	0.75442	0.68970	172380
1	215901492	rs2820718 - 48387	C/T	Benign	Not Specified Not Provided Usher Syndrome Type 2A	SNV	synonymous_variant	MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C1848634 OMIM:276901 Orphanet:231178 Orphanet:886	USH2A	Germline		NC_000001.10:g.215901492C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA143279	2820718	Single Nucleotide Variant	0.15601	0.18007	0.11881	57549
1	215933460	rs2797227 - 667896	T/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	USH2A	Germline		NC_000001.10:g.215933460C>T	Criteria Provided Single Submitter		2797227	Single Nucleotide Variant			0.57708	657341
1	215956304	rs7518466 - 1177015	G/A	Benign	Not Provided Usher Syndrome Type 2A	SNV	intron_variant	MedGen:CN517202 MONDO MedGen:C1848634 OMIM:276901 Orphanet:231178 Orphanet:886	USH2A	Germline		NC_000001.10:g.215956304A>G	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1166504
1	215960167	rs10864198 - 48344	G/T	Benign	Not Specified Not Provided Usher Syndrome Type 2A	SNV	missense_variant	MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C1848634 OMIM:276901 Orphanet:231178 Orphanet:886	USH2A	Germline		NC_000001.10:g.215960167T>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA143215 Uniprotkb:O75445#VAR 050087	10864198	Single Nucleotide Variant	0.54689	0.57058	0.58866	57506
1	215963374	rs11120629 - 1290575	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	USH2A	Germline		NC_000001.10:g.215963374G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1280403
1	215968078	rs10746458 - 671597	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	USH2A	Germline		NC_000001.10:g.215968078A>G	Criteria Provided Single Submitter		10746458	Single Nucleotide Variant			0.61801	657348
1	216011088	rs2027355 - 678910	A/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	USH2A	Germline		NC_000001.10:g.216011088G>A	Criteria Provided Single Submitter		2027355	Single Nucleotide Variant			0.33546	657352
1	216039967	rs2147912 - 667895	C/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	USH2A	Germline		NC_000001.10:g.216039967T>C	Criteria Provided Single Submitter		2147912	Single Nucleotide Variant			0.45008	657361
1	216050785	rs11120686 - 1268008	C/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	USH2A	Germline		NC_000001.10:g.216050785T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1257058
1	216061565	rs6682313 - 1226723	A/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	USH2A	Germline		NC_000001.10:g.216061565A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1216695
1	216073505	rs12404427 - 48584	C/T	Benign	Not Provided Not Specified Usher Syndrome Type 2A	SNV	synonymous_variant	MedGen:CN517202 MedGen:CN169374 MONDO MedGen:C1848634 OMIM:276901 Orphanet:231178 Orphanet:886	USH2A	Germline		NC_000001.10:g.216073505C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA143597	12404427	Single Nucleotide Variant	0.06693	0.08511	0.05891	57746
1	216172380	rs10864219 - 48562	G/A	Benign	Not Specified Not Provided Usher Syndrome Type 2A	SNV	missense_variant	MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C1848634 OMIM:276901 Orphanet:231178 Orphanet:886	USH2A	Germline		NC_000001.10:g.216172380A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA143560 Uniprotkb:O75445#VAR 038364	10864219	Single Nucleotide Variant	0.55669	0.48093	0.59345	57724
1	216172585	rs1436780 - 1267088	A/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	USH2A	Germline		NC_000001.10:g.216172585G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1254411
1	216219781	rs6657250 - 167815	G/A	Benign	Not Specified Not Provided Usher Syndrome Type 2A	SNV	missense_variant	MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C1848634 OMIM:276901 Orphanet:231178 Orphanet:886	USH2A	Germline		NC_000001.10:g.216219781A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA180473	6657250	Single Nucleotide Variant	0.60693	0.70045	0.59565	172908
1	216348764	rs1805049 - 177992	T/T	Benign	Not Specified Not Provided Usher Syndrome Type 2A	SNV	missense_variant	MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C1848634 OMIM:276901 Orphanet:231178 Orphanet:886	USH2A	Germline		NC_000001.10:g.216348764C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA181132	1805049	Single Nucleotide Variant	0.65801	0.60641	0.66234	172529
1	216390694	rs1324330 - 1177621	T/T	Benign	Not Provided Usher Syndrome Type 2A	SNV	intron_variant	MedGen:CN517202 MONDO MedGen:C1848634 OMIM:276901 Orphanet:231178 Orphanet:886	USH2A	Germline		NC_000001.10:g.216390694C>T	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1167081
1	216592003	rs4253963 - 48528	C/C	Benign	Not Specified Not Provided Retinitis Pigmentosa Usher Syndrome Type 2A	SNV	synonymous_variant	MedGen:CN169374 MedGen:CN517202 Human_Phenotype_Ontology:HP:0000547 MONDO MeSH:D012174 MedGen:C0035334 OMIM:268000 OMIM:PS268000 Orphanet:791 MONDO MedGen:C1848634 OMIM:276901 Orphanet:231178 Orphanet:886	USH2A	Germline		NC_000001.10:g.216592003T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA143509	4253963	Single Nucleotide Variant	0.64847	0.59634	0.63279	57690
1	216595306	rs10779261 - 48507	T/T	Benign	Not Specified Not Provided Retinitis Pigmentosa Usher Syndrome Type 2A	SNV	missense_variant	MedGen:CN169374 MedGen:CN517202 Human_Phenotype_Ontology:HP:0000547 MONDO MeSH:D012174 MedGen:C0035334 OMIM:268000 OMIM:PS268000 Orphanet:791 MONDO MedGen:C1848634 OMIM:276901 Orphanet:231178 Orphanet:886	USH2A	Germline		NC_000001.10:g.216595306C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA143469 Uniprotkb:O75445#VAR 025760	10779261	Single Nucleotide Variant	0.72929	0.71898	0.76118	57669
1	218609702	rs6684205 - 1292461	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	TGFB2	Germline		NC_000001.10:g.218609702A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1282267
1	218615451	rs991967 - 295502	C/A	Benign	Loeys-Dietz Syndrome 4	SNV	SO:0001619 non-coding_transcript_variantSO:0001624 3_prime_UTR_variant	MONDO MedGen:C3553762 OMIM:614816	TGFB2	Germline		NC_000001.10:g.218615451A>C	Criteria Provided Single Submitter	Clingen:CA10609126	991967	Single Nucleotide Variant			0.46985	279099
1	218617900	rs6683598 - 295539	T/C	Benign	Loeys-Dietz Syndrome 4	SNV	SO:0001619 non-coding_transcript_variantSO:0001624 3_prime_UTR_variant	MONDO MedGen:C3553762 OMIM:614816	TGFB2	Germline		NC_000001.10:g.218617900C>T	Criteria Provided Single Submitter	Clingen:CA10609233	6683598	Single Nucleotide Variant			0.44389	279332
1	220088047	rs2275707 - 295578	A/A	Benign	Hypermanganesemia With Dystonia Polycythemia And Cirrhosis	SNV	SO:0001619 non-coding_transcript_variantSO:0001624 3_prime_UTR_variant	MONDO MedGen:C2750442 OMIM:613280 Orphanet:309854	SLC30A10	Germline		NC_000001.10:g.220088047C>A	Criteria Provided Single Submitter	Clingen:CA10610088	2275707	Single Nucleotide Variant			0.86981	280787
1	220154768	rs1061160 - 1166606	C/T	Benign	Leukodystrophy Hypomyelinating 15 Not Provided	SNV	synonymous_variant	MONDO MedGen:C4693733 OMIM:617951 MedGen:CN517202	EPRS1	Germline		NC_000001.10:g.220154768C>T	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1153491
1	220156090	rs2647462 - 1255388	C/C	Benign	Leukodystrophy Hypomyelinating 15	SNV	intron_variant	MONDO MedGen:C4693733 OMIM:617951	EPRS1	Germline		NC_000001.10:g.220156090T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1245320
1	220197625	rs2230301 - 1166609	T/T	Benign	Leukodystrophy Hypomyelinating 15 Not Provided	SNV	missense_variant	MONDO MedGen:C4693733 OMIM:617951 MedGen:CN517202	EPRS1	Germline		NC_000001.10:g.220197625G>T	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1153502
1	220273564	rs2289190 - 680610	T/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	IARS2	Germline		NC_000001.10:g.220273564T>G	Criteria Provided Single Submitter		2289190	Single Nucleotide Variant			0.26817	657378
1	220319110	rs3738336 - 1227696	A/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	IARS2	Germline		NC_000001.10:g.220319110A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1215088
1	220321023	rs11095 - 1294385	A/G	Benign	Not Provided	SNV	3_prime_UTR_variant	MedGen:CN517202	IARS2	Germline		NC_000001.10:g.220321023A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1284175
1	220332876	rs2808026 - 1258027	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	RAB3GAP2	Germline		NC_000001.10:g.220332876G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1248797
1	223175496	rs78501387 - 1192166	A/G	Likely Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	DISP1	Germline		NC_000001.10:g.223175496A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1179211
1	225268343	rs3128651 - 402647	G/G	Benign	Not Specified	SNV	missense_variant	MedGen:CN169374	DNAH14	Germline		NC_000001.10:g.225268343A>G	Criteria Provided Single Submitter	Clingen:CA1415844	3128651	Single Nucleotide Variant	0.86543	0.82676	0.70328	389366
1	225270409	rs3128655 - 402649	T/T	Benign	Not Specified	SNV	missense_variant	MedGen:CN169374	DNAH14	Germline		NC_000001.10:g.225270409A>T	Criteria Provided Single Submitter	Clingen:CA1415867	3128655	Single Nucleotide Variant	0.80199	0.76172	0.66214	389369
1	225273248	rs3128658 - 402650	T/T	Benign	Not Specified	SNV	missense_variant	MedGen:CN169374	DNAH14	Germline		NC_000001.10:g.225273248G>T	Criteria Provided Single Submitter	Clingen:CA1415879	3128658	Single Nucleotide Variant	0.86657	0.82513	0.70208	389401
1	225506294	rs10495237 - 402655	A/G	Benign	Not Specified	SNV	missense_variant	MedGen:CN169374	DNAH14	Germline		NC_000001.10:g.225506294A>G	Criteria Provided Single Submitter	Clingen:CA1416509	10495237	Single Nucleotide Variant	0.08978	0.09308	0.14916	389382
1	225555602	rs12737248 - 402662	T/G	Benign	Not Specified	SNV	missense_variant	MedGen:CN169374	DNAH14	Germline		NC_000001.10:g.225555602T>G	Criteria Provided Single Submitter	Clingen:CA1416811	12737248	Single Nucleotide Variant	0.43339	0.46846	0.32947	389393
1	225562385	rs10915816 - 402663	T/T	Benign	Not Specified	SNV	intron_variant	MedGen:CN169374	DNAH14	Germline		NC_000001.10:g.225562385C>T	Criteria Provided Single Submitter	Clingen:CA1416826	10915816	Single Nucleotide Variant	0.74860	0.72339	0.70967	389386
1	225565015	rs3856154 - 402664	C/T	Benign	Not Specified	SNV	missense_variant	MedGen:CN169374	DNAH14	Germline		NC_000001.10:g.225565015T>C	Criteria Provided Single Submitter	Clingen:CA1416853	3856154	Single Nucleotide Variant	0.55721	0.56176	0.55631	389408
1	225569241	rs950210 - 402666	G/T	Benign	Not Specified	SNV	missense_variant	MedGen:CN169374	DNAH14	Germline		NC_000001.10:g.225569241T>G	Criteria Provided Single Submitter	Clingen:CA1416905	950210	Single Nucleotide Variant	0.54833	0.53198	0.52836	389388
1	225607144	rs2230419 - 258619	T/T	Benign	Not Provided Not Specified Reynolds Syndrome Pelger-Hu??T Anomaly Greenberg Dysplasia	SNV	missense_variant	MedGen:CN517202 MedGen:CN169374 MONDO MedGen:C0748397 OMIM:613471 Orphanet:779 MONDO MedGen:C0030779 OMIM:169400 MONDO MedGen:C2931048 OMIM:215140 Orphanet:1426	LBR	Germline		NC_000001.10:g.225607144C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1417451 Uniprotkb:Q14739#VAR 024318	2230419	Single Nucleotide Variant	0.80092	0.70329	0.71226	249738
1	225610240	rs12141732 - 1287089	T/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	LBR	Germline		NC_000001.10:g.225610240T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1276923
1	225611661	rs1056607 - 258616	T/T	Benign	Not Provided Not Specified Greenberg Dysplasia Reynolds Syndrome Pelger-Hu??T Anomaly	SNV	synonymous_variant	MedGen:CN517202 MedGen:CN169374 MONDO MedGen:C2931048 OMIM:215140 Orphanet:1426 MONDO MedGen:C0748397 OMIM:613471 Orphanet:779 MONDO MedGen:C0030779 OMIM:169400	LBR	Germline		NC_000001.10:g.225611661C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1417567	1056607	Single Nucleotide Variant	0.71123	0.69899	0.65715	249741
1	225611845	rs1340867 - 810884	T/C	Benign	Not Specified Not Provided	SNV	intron_variant	MedGen:CN169374 MedGen:CN517202	LBR	Germline		NC_000001.10:g.225611845C>T	Criteria Provided Multiple Submitters No Conflicts		1340867	Single Nucleotide Variant			0.60184	799185
1	226019371	rs3817268 - 1259870	G/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	EPHX1	Germline		NC_000001.10:g.226019371G>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1249355
1	226019633	rs1051740 - 16604	T/C	Benign	EPOXIDE HYDROLASE 1 POLYMORPHISM Not Provided Cystic Fibrosis	SNV	SO:0001583 missense_variantSO:0001619 non-coding_transcript_variant	. MedGen:CN517202 MONDO MedGen:C0010674 OMIM:219700 Orphanet:586	EPHX1	Germline		NC_000001.10:g.226019633T>C	Criteria Provided Single Submitter	Clingen:CA126706 OMIM:132810.0001 Pharmgkb Clinical Annotation:981238550 Uniprotkb:P07099#VAR 005295	1051740	Single Nucleotide Variant	0.31339		0.31330	31643
1	226019774	rs2260863 - 1234219	C/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	EPHX1	Germline		NC_000001.10:g.226019774G>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1224624
1	226026241	rs4149223 - 1268895	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	EPHX1	Germline		NC_000001.10:g.226026241C>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1261326
1	226027201	rs4149225 - 1180067	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	EPHX1	Germline		NC_000001.10:g.226027201A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1168819
1	226027323	rs4149226 - 1291307	C/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	EPHX1	Germline		NC_000001.10:g.226027323T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1281121
1	226044766	rs9919303 - 1342228	A/A	Benign	Leukodystrophy Hypomyelinating 19 Transient Infantile	SNV	intron_variant	MONDO MedGen:C5231463 OMIM:618688	TMEM63A	Germline		NC_000001.10:g.226044766G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1333804
1	226055595	rs2292564 - 1342230	A/A	Benign	Leukodystrophy Hypomyelinating 19 Transient Infantile	SNV	synonymous_variant	MONDO MedGen:C5231463 OMIM:618688	TMEM63A	Germline		NC_000001.10:g.226055595G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1333806
1	226555302	rs1136410 - 1261945	A/G	Benign	Not Provided	SNV	missense_variant	MedGen:CN517202	PARP1	Germline		NC_000001.10:g.226555302A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1250560
1	226923505	rs708776 - 1705897	T/T	Likely Pathogenic	Myeloproliferative Neoplasm Unclassifiable	SNV	missense_variant	MONDO MedGen:C1333046 Orphanet:86830	ITPKB	Somatic		NC_000001.10:g.226923505G>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1704217
1	226923938	rs6667260 - 1705899	C/A	Likely Pathogenic	Myeloproliferative Neoplasm Unclassifiable	SNV	missense_variant	MONDO MedGen:C1333046 Orphanet:86830	ITPKB	Somatic		NC_000001.10:g.226923938A>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1704219
1	227069677	rs11405 - 256184	C/C	Benign	Dilated Cardiomyopathy 1V Alzheimer Disease 4 Not Specified Not Provided	SNV	synonymous_variant	MONDO MedGen:C3150958 OMIM:613697 Orphanet:154 MONDO MedGen:C1847200 OMIM:606889 Orphanet:1020 MedGen:CN169374 MedGen:CN517202	PSEN2	Germline		NC_000001.10:g.227069677T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1424378	11405	Single Nucleotide Variant	0.76035	0.79310	0.73562	249746
1	227069737	rs6759 - 256180	T/T	Benign	Not Specified Dilated Cardiomyopathy 1V Alzheimer Disease 4 Not Provided	SNV	synonymous_variant	MedGen:CN169374 MONDO MedGen:C3150958 OMIM:613697 Orphanet:154 MONDO MedGen:C1847200 OMIM:606889 Orphanet:1020 MedGen:CN517202	PSEN2	Germline		NC_000001.10:g.227069737C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1424393	6759	Single Nucleotide Variant	0.49948	0.48954	0.44329	249747
1	227071525	rs1046240 - 256181	T/T	Benign	Not Specified Dilated Cardiomyopathy 1V Alzheimer Disease 4 Not Provided	SNV	synonymous_variant	MedGen:CN169374 MONDO MedGen:C3150958 OMIM:613697 Orphanet:154 MONDO MedGen:C1847200 OMIM:606889 Orphanet:1020 MedGen:CN517202	PSEN2	Germline		NC_000001.10:g.227071525C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1424451	1046240	Single Nucleotide Variant	0.49907	0.49016	0.44329	249748
1	227075984	rs1800680 - 1267461	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	PSEN2	Germline		NC_000001.10:g.227075984G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1257798
1	227170768	rs2256060 - 671532	T/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	COQ8A	Germline		NC_000001.10:g.227170768T>C	Criteria Provided Single Submitter		2256060	Single Nucleotide Variant	0.22847	0.19896	0.23942	657396
1	227174902	rs8159 - 296040	A/A	Benign	Autosomal Recessive Ataxia Due To Ubiquinone Deficiency Autosomal Recessive Cerebellar Ataxia	SNV	3_prime_UTR_variant	MONDO MedGen:C2677589 OMIM:612016 Orphanet:139485 MONDO MedGen:CN226644 OMIM:PS213200 Orphanet:1172	COQ8A	Germline		NC_000001.10:g.227174902G>A	Criteria Provided Single Submitter	Clingen:CA10610287	8159	Single Nucleotide Variant			0.35204	281095
1	227175119	rs10482 - 296045	G/A	Benign/Likely Benign	Not Provided Autosomal Recessive Ataxia Due To Ubiquinone Deficiency Coenzyme Q10 Deficiency Spinocerebellar Ataxia Type	SNV	3_prime_UTR_variant	MedGen:CN517202 MONDO MedGen:C2677589 OMIM:612016 Orphanet:139485 MedGen:CN239204	COQ8A	Germline		NC_000001.10:g.227175119G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA10610288	10482	Single Nucleotide Variant			0.09445	281096
1	228402047	rs1620111 - 1229820	G/G	Benign	Not Provided	SNV	synonymous_variant	MedGen:CN517202	OBSCN	Germline		NC_000001.10:g.228402047A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1219787
1	228402121	rs1771487 - 1222014	G/G	Benign	Not Provided	SNV	missense_variant	MedGen:CN517202	OBSCN	Germline		NC_000001.10:g.228402121A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1213576
1	228434395	rs7517088 - 1259152	C/T	Benign	Not Provided	SNV	synonymous_variant	MedGen:CN517202	OBSCN	Germline		NC_000001.10:g.228434395T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1247362
1	228464248	rs1188721 - 1338875	G/T	Benign	Not Provided	SNV	missense_variant	MedGen:CN517202	OBSCN	Germline		NC_000001.10:g.228464248T>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1329919
1	229568632	rs11803533 - 93547	G/G	Benign	Actin Accumulation Myopathy Not Specified Familial Restrictive Cardiomyopathy Not Provided Congenital Myopathy With Fiber Type Disproportion	SNV	intron_variant	MONDO MedGen:C3711389 OMIM:161800 MedGen:CN169374 MONDO MedGen:C0340429 OMIM:PS115210 Orphanet:217635 MedGen:CN517202 MONDO MedGen:C0546264 Orphanet:2020	ACTA1	Germline		NC_000001.10:g.229568632A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA147046	11803533	Single Nucleotide Variant	0.20818	0.27195	0.27396	99452
1	229623338	rs1065674 - 1601070	C/C	Benign	Not Provided	SNV	missense_variant	MedGen:CN517202	NUP133	Germline		NC_000001.10:g.229623338T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1610276
1	229631734	rs11805194 - 1601415	C/C	Benign	Not Provided	SNV	missense_variant	MedGen:CN517202	NUP133	Germline		NC_000001.10:g.229631734T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1610620
1	229635521	rs10916495 - 1600547	G/G	Benign	Not Provided	SNV	synonymous_variant	MedGen:CN517202	NUP133	Germline		NC_000001.10:g.229635521A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1632106
1	230795177	rs1359866 - 1285989	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	COG2	Germline		NC_000001.10:g.230795177T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1275828
1	230795641	rs2225146 - 1270031	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	COG2	Germline		NC_000001.10:g.230795641A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1258644
1	230804773	rs2281951 - 1257292	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	COG2	Germline		NC_000001.10:g.230804773C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1246788
1	230828987	rs2478534 - 1177936	C/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	COG2	Germline		NC_000001.10:g.230828987C>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1167183
1	230838258	rs2067853 - 368868	G/A	Benign	Renotubular Dysgenesis	SNV		Human_Phenotype_Ontology:HP:0008660 MONDO MedGen:C0266313 Orphanet:3033	AGT	Germline		NC_000001.10:g.230838258G>A	Criteria Provided Single Submitter	Clingen:CA10654439	2067853	Single Nucleotide Variant			0.19050	353097
1	230838331	rs7079 - 296063	G/T	Benign	Renotubular Dysgenesis	SNV		Human_Phenotype_Ontology:HP:0008660 MONDO MedGen:C0266313 Orphanet:3033	AGT	Germline		NC_000001.10:g.230838331G>T	Criteria Provided Single Submitter	Clingen:CA10609419	7079	Single Nucleotide Variant			0.19050	279720
1	230841687	rs2478522 - 254725	C/C	Benign/Likely Benign	Not Specified Renotubular Dysgenesis Essential Hypertension Genetic Renal Tubular Dysgenesis Of Genetic Origin Not Provided	SNV		MedGen:CN169374 Human_Phenotype_Ontology:HP:0008660 MONDO MedGen:C0266313 Orphanet:3033 MONDO MedGen:CN305331 OMIM:145500 MONDO MedGen:CN305377 OMIM:267430 Orphanet:97369 MedGen:CN517202	AGT	Germline		NC_000001.10:g.230841687T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1448145	7080	Single Nucleotide Variant	0.94407	0.94087	0.97264	249765
1	231377081	rs518686 - 296108	T/C	Benign	Not Specified Rhizomelic Chondrodysplasia Punctata Type 2	SNV	5_prime_UTR_variant	MedGen:CN169374 MONDO MedGen:C1857242 OMIM:222765 Orphanet:177 Orphanet:309796	GNPAT	Germline		NC_000001.10:g.231377081C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1451679	518686	Single Nucleotide Variant	0.54901	0.55090	0.58187	279735
1	231396634	rs531592 - 671164	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	GNPAT	Germline		NC_000001.10:g.231396634T>C	Criteria Provided Single Submitter		531592	Single Nucleotide Variant			0.52516	657443
1	231406961	rs539699 - 671196	T/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	GNPAT	Germline		NC_000001.10:g.231406961C>T	Criteria Provided Single Submitter		539699	Single Nucleotide Variant			0.62840	657358
1	231408091	rs11558492 - 35465	A/G	Benign/Likely Benign	Not Specified Not Provided Rhizomelic Chondrodysplasia Punctata Type 2	SNV	missense_variant	MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C1857242 OMIM:222765 Orphanet:177 Orphanet:309796	GNPAT	Germline		NC_000001.10:g.231408091A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA129915 OMIM:602744.0006 Uniprotkb:O15228#VAR 025897	11558492	Single Nucleotide Variant		0.16715	0.13558	44134
1	231488524	rs2437150 - 1333158	T/T	Benign	Progeroid Features-Hepatocellular Carcinoma Predisposition Syndrome	SNV	SO:0001583 missense_variantSO:0001624 3_prime_UTR_variant	MONDO MedGen:C4015461 OMIM:616200 Orphanet:435953	SPRTN	Germline		NC_000001.10:g.231488524C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1323915
1	231954101	rs6675281 - 98355	C/T	Not Provided	Not Provided	SNV	SO:0001583 missense_variantSO:0001619 non-coding_transcript_variantSO:0001624 3_prime_UTR_variantSO:0001627 intron_variantSO:0001819 synonymous_variant	MedGen:CN517202	DISC1			NC_000001.10:g.231954101C>T	No Assertion Provided	Clingen:CA225553	6675281	Single Nucleotide Variant	0.11557	0.15370	0.09585	104248
1	234510262	rs4300255 - 1292089	A/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	COA6	Germline		NC_000001.10:g.234510262A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1281902
1	235594182	rs2291687 - 1229298	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	TBCE	Germline		NC_000001.10:g.235594182A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1221846
1	235600129	rs6429082 - 1251326	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	TBCE	Germline		NC_000001.10:g.235600129T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1241672
1	235600590	rs6697653 - 1287727	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	TBCE	Germline		NC_000001.10:g.235600590G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1277559
1	235628908	rs1305556 - 1292926	A/A	Benign	Not Provided	SNV	SO:0001627 intron_variantSO:0002073 no_sequence_alteration	MedGen:CN517202	B3GALNT2	Germline		NC_000001.10:g.235628908G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1282732
1	235647631	rs291387 - 1169052	T/T	Benign	Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies) Type A 11 Not Provided	sequence_alteration	intron_variant	MONDO MedGen:C3554638 OMIM:615181 Orphanet:588 Orphanet:899 MedGen:CN517202	B3GALNT2	Germline		NC_000001.10:g.235647631G>T	Criteria Provided Multiple Submitters No Conflicts			Variation				1153536
1	235648025	rs291388 - 1232543	A/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	B3GALNT2	Germline		NC_000001.10:g.235648025C>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1224250
1	235652513	rs291396 - 262651	C/C	Benign	Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies) Type A 11 Not Specified	SNV	no_sequence_alteration	MONDO MedGen:C3554638 OMIM:615181 Orphanet:588 Orphanet:899 MedGen:CN169374	B3GALNT2	Germline		NC_000001.10:g.235652513T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1464946	291396	Single Nucleotide Variant				249770
1	236154012	rs1041111 - 1280529	T/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	NID1	Germline		NC_000001.10:g.236154012C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1272625
1	236157277	rs16833075 - 1282638	T/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	NID1	Germline		NC_000001.10:g.236157277T>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1271207
1	236177182	rs3754237 - 1289447	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	NID1	Germline		NC_000001.10:g.236177182A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1279278
1	236201609	rs4659620 - 1242508	T/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	NID1	Germline		NC_000001.10:g.236201609T>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1232050
1	236208773	rs10733133 - 1279724	C/T	Benign	Not Provided	SNV	missense_variant	MedGen:CN517202	NID1	Germline		NC_000001.10:g.236208773C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1269757
1	236557412	rs10802533 - 1226215	G/G	Benign	Not Provided	SNV		MedGen:CN517202	EDARADD	Germline		NC_000001.10:g.236557412T>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1214894
1	236557771	rs966365 - 262600	A/A	Benign	Hypohidrotic Ectodermal Dysplasia Ectodermal Dysplasia 11A Hypohidrotic/Hair/Tooth Type Autosomal Dominant Ectodermal Dysplasia 11B Hypohidrotic/Hair/Tooth Type Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Recessive Not Specified Not Provided	SNV	missense_variant	Human_Phenotype_Ontology:HP:0007607 MONDO MedGen:CN236709 Orphanet:238468 MONDO MedGen:C3541517 OMIM:614940 Orphanet:1810 Orphanet:238468 MONDO MedGen:C3539920 OMIM:614941 Orphanet:238468 Orphanet:248 MedGen:CN239465 MedGen:CN169374 MedGen:CN517202	EDARADD	Germline		NC_000001.10:g.236557771G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1469907 Uniprotkb:Q8WWZ3#VAR 050963	966365	Single Nucleotide Variant		0.73835	0.77676	249813
1	236557928	rs966364 - 439637	A/A	Benign	Not Specified Not Provided	SNV	intron_variant	MedGen:CN169374 MedGen:CN517202	EDARADD	Germline		NC_000001.10:g.236557928G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA10915766	966364	Single Nucleotide Variant			0.77236	433521
1	236590563	rs1778861 - 1295875	T/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	EDARADD	Germline		NC_000001.10:g.236590563C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1285670
1	236883421	rs1341863 - 43938	T/T	Benign	Myopathy Congenital With Structured Cores And Z-Line Abnormalities Cardiovascular Phenotype Not Specified Dilated Cardiomyopathy 1AA Primary Familial Hypertrophic Cardiomyopathy	SNV	SO:0001623 5_prime_UTR_variantSO:0001819 synonymous_variant	MONDO MedGen:C5231445 OMIM:618654 MedGen:CN230736 MedGen:CN169374 MONDO MedGen:C2677338 OMIM:612158 Orphanet:154 MONDO MeSH:D024741 MedGen:C0949658 OMIM:PS192600 Orphanet:155	ACTN2	Germline		NC_000001.10:g.236883421C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA133200	1341863	Single Nucleotide Variant	0.96238	0.93772	0.92073	53107
1	236898035	rs819643 - 672004	C/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ACTN2	Germline		NC_000001.10:g.236898035T>C	Criteria Provided Single Submitter		819643	Single Nucleotide Variant			0.96206	657468
1	236899042	rs2288600 - 177799	G/A	Benign	Not Provided Not Specified	SNV	intron_variant	MedGen:CN517202 MedGen:CN169374	ACTN2	Germline		NC_000001.10:g.236899042G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA180788	2288600	Single Nucleotide Variant	0.16674	0.15662	0.19589	172789
1	236902594	rs2288601 - 43950	G/C	Benign/Likely Benign	Myopathy Congenital With Structured Cores And Z-Line Abnormalities Not Specified Dilated Cardiomyopathy 1AA Primary Familial Hypertrophic Cardiomyopathy Hypertrophic Cardiomyopathy	SNV	intron_variant	MONDO MedGen:C5231445 OMIM:618654 MedGen:CN169374 MONDO MedGen:C2677338 OMIM:612158 Orphanet:154 MONDO MeSH:D024741 MedGen:C0949658 OMIM:PS192600 Orphanet:155 Human_Phenotype_Ontology:HP:0001639 MONDO MeSH:D002312 MedGen:C0007194 Orphanet:217569	ACTN2	Germline		NC_000001.10:g.236902594C>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA133223	2288601	Single Nucleotide Variant		0.77749	0.76757	53119
1	236902955	rs7544174 - 672006	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ACTN2	Germline		NC_000001.10:g.236902955T>C	Criteria Provided Single Submitter		7544174	Single Nucleotide Variant			0.42073	657466
1	236907847	rs3738543 - 672489	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ACTN2	Germline		NC_000001.10:g.236907847G>A	Criteria Provided Single Submitter		3738543	Single Nucleotide Variant			0.07668	657400
1	236910863	rs10802557 - 672446	C/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ACTN2	Germline		NC_000001.10:g.236910863T>C	Criteria Provided Single Submitter		10802557	Single Nucleotide Variant			0.32788	657470
1	236911137	rs10925211 - 1274038	A/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ACTN2	Germline		NC_000001.10:g.236911137A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1263503
1	236911343	rs10802558 - 682668	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ACTN2	Germline		NC_000001.10:g.236911343C>T	Criteria Provided Single Submitter		10802558	Single Nucleotide Variant			0.20547	657416
1	236912219	rs3818884 - 672007	T/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ACTN2	Germline		NC_000001.10:g.236912219G>T	Criteria Provided Single Submitter		3818884	Single Nucleotide Variant			0.77536	657527
1	236912597	rs2297955 - 671233	A/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ACTN2	Germline		NC_000001.10:g.236912597A>G	Criteria Provided Single Submitter		2297955	Single Nucleotide Variant	0.14154	0.14878	0.18990	657419
1	236914576	rs3738544 - 672009	T/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ACTN2	Germline		NC_000001.10:g.236914576C>T	Criteria Provided Single Submitter		3738544	Single Nucleotide Variant			0.58546	657531
1	236915207	rs4659713 - 682671	A/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ACTN2	Germline		NC_000001.10:g.236915207G>A	Criteria Provided Single Submitter		4659713	Single Nucleotide Variant			0.77836	657492
1	236918005	rs2297861 - 682681	C/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ACTN2	Germline		NC_000001.10:g.236918005T>C	Criteria Provided Single Submitter		2297861	Single Nucleotide Variant			0.93670	657547
1	236924506	rs2282366 - 671063	G/G	Benign	Myopathy Congenital With Structured Cores And Z-Line Abnormalities Not Provided	SNV	intron_variant	MONDO MedGen:C5231445 OMIM:618654 MedGen:CN517202	ACTN2	Germline		NC_000001.10:g.236924506A>G	Criteria Provided Multiple Submitters No Conflicts		2282366	Single Nucleotide Variant	0.84995	0.86091	0.79812	657523
1	236925844	rs12063382 - 43933	G/A	Benign/Likely Benign	Not Specified Cardiovascular Phenotype Dilated Cardiomyopathy 1AA Primary Familial Hypertrophic Cardiomyopathy Hypertrophic Cardiomyopathy	SNV	synonymous_variant	MedGen:CN169374 MedGen:CN230736 MONDO MedGen:C2677338 OMIM:612158 Orphanet:154 MONDO MeSH:D024741 MedGen:C0949658 OMIM:PS192600 Orphanet:155 Human_Phenotype_Ontology:HP:0001639 MONDO MeSH:D002312 MedGen:C0007194 Orphanet:217569	ACTN2	Germline		NC_000001.10:g.236925844G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA133190	12063382	Single Nucleotide Variant	0.16881	0.15570	0.19609	53102
1	236926445	rs1803032 - 296518	C/T	Likely Benign	Hypertrophic Cardiomyopathy	SNV	3_prime_UTR_variant	Human_Phenotype_Ontology:HP:0001639 MONDO MeSH:D002312 MedGen:C0007194 Orphanet:217569	ACTN2	Germline		NC_000001.10:g.236926445T>C	Criteria Provided Single Submitter	Clingen:CA10610590	1803032	Single Nucleotide Variant			0.55731	281561
1	236926667	rs7522310 - 296521	G/A	Likely Benign	Hypertrophic Cardiomyopathy	SNV	3_prime_UTR_variant	Human_Phenotype_Ontology:HP:0001639 MONDO MeSH:D002312 MedGen:C0007194 Orphanet:217569	ACTN2	Germline		NC_000001.10:g.236926667A>G	Criteria Provided Single Submitter	Clingen:CA10609440	7522310	Single Nucleotide Variant			0.39916	279762
1	237015628	rs2275568 - 1262193	T/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	MTR	Germline		NC_000001.10:g.237015628C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1250807
1	237023333	rs10925254 - 1183329	C/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	MTR	Germline		NC_000001.10:g.237023333T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1170695
1	237048562	rs2275566 - 1258762	A/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	MTR	Germline		NC_000001.10:g.237048562G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1248254
1	237054569	rs16834521 - 138290	G/G	Benign	Disorders Of Intracellular Cobalamin Metabolism Not Specified Methylcobalamin Deficiency Type Cblg	SNV	synonymous_variant	MedGen:CN043592 MedGen:CN169374 MONDO MedGen:C1855128 OMIM:250940 Orphanet:2170 Orphanet:622	MTR	Germline		NC_000001.10:g.237054569A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA292215	2229276	Single Nucleotide Variant	0.38331	0.34054	0.32328	141993
1	237057608	rs2297965 - 1270532	A/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	MTR	Germline		NC_000001.10:g.237057608G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1261671
1	237058828	rs10737812 - 138284	T/T	Benign	Disorders Of Intracellular Cobalamin Metabolism Not Specified Methylcobalamin Deficiency Type Cblg	SNV	synonymous_variant	MedGen:CN043592 MedGen:CN169374 MONDO MedGen:C1855128 OMIM:250940 Orphanet:2170 Orphanet:622	MTR	Germline		NC_000001.10:g.237058828C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA292209	1131449	Single Nucleotide Variant		0.54606	0.52915	141987
1	237060433	rs3820571 - 138285	T/T	Benign	Disorders Of Intracellular Cobalamin Metabolism Not Specified Methylcobalamin Deficiency Type Cblg	SNV	intron_variant	MedGen:CN043592 MedGen:CN169374 MONDO MedGen:C1855128 OMIM:250940 Orphanet:2170 Orphanet:622	MTR	Germline		NC_000001.10:g.237060433G>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA292211	3820571	Single Nucleotide Variant	0.67559	0.71336	0.75240	141988
1	237061056	rs2853522 - 296587	C/C	Benign	Disorders Of Intracellular Cobalamin Metabolism Not Provided	SNV	3_prime_UTR_variant	MedGen:CN043592 MedGen:CN517202	MTR	Germline		NC_000001.10:g.237061056A>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA10609473	2853522	Single Nucleotide Variant			0.54014	279822
1	237062198	rs2853523 - 296610	C/C	Benign	Disorders Of Intracellular Cobalamin Metabolism	SNV	3_prime_UTR_variant	MedGen:CN043592	MTR	Germline		NC_000001.10:g.237062198A>C	Criteria Provided Single Submitter	Clingen:CA10609496	2853523	Single Nucleotide Variant			0.76458	279848
1	237062305	rs1050993 - 296611	G/G	Benign	Disorders Of Intracellular Cobalamin Metabolism	SNV	3_prime_UTR_variant	MedGen:CN043592	MTR	Germline		NC_000001.10:g.237062305A>G	Criteria Provided Single Submitter	Clingen:CA10610643	1050993	Single Nucleotide Variant			0.76438	281657
1	237434181	rs7526874 - 683744	A/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	RYR2	Germline		NC_000001.10:g.237434181G>A	Criteria Provided Single Submitter		7526874	Single Nucleotide Variant			0.92612	657549
1	237540615	rs10925391 - 43790	A/C	Benign	Not Specified Cardiac Arrhythmia Cardiovascular Phenotype Cardiomyopathy Catecholaminergic Polymorphic Ventricular Tachycardia 1 Arrhythmogenic Right Ventricular Dysplasia 2	SNV	intron_variant	MedGen:CN169374 EFO:EFO_0004269 Human_Phenotype_Ontology:HP:0001656 Human_Phenotype_Ontology:HP:0001661 Human_Phenotype_Ontology:HP:0001665 Human_Phenotype_Ontology:HP:0001666 Human_Phenotype_Ontology:HP:0001687 Human_Phenotype_Ontology:HP:0001721 Human_Phenotype_Ontology:HP:0004351 Human_Phenotype_Ontology:HP:0005158 Human_Phenotype_Ontology:HP:0011675 MedGen:C0003811 MedGen:CN230736 Human_Phenotype_Ontology:HP:0001638 MONDO MedGen:C0878544 Orphanet:167848 MONDO MedGen:C1631597 OMIM:604772 Orphanet:3286 MONDO MedGen:C1832931	RYR2	Germline		NC_000001.10:g.237540615A>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA009619	10925391	Single Nucleotide Variant	0.30215	0.30434	0.36282	52959
1	237551376	rs10754602 - 43817	A/T	Benign	Cardiovascular Phenotype Cardiac Arrhythmia Not Specified Not Provided Cardiomyopathy Catecholaminergic Polymorphic Ventricular Tachycardia 1 Arrhythmogenic Right Ventricular Dysplasia 2	SNV	intron_variant	MedGen:CN230736 EFO:EFO_0004269 Human_Phenotype_Ontology:HP:0001656 Human_Phenotype_Ontology:HP:0001661 Human_Phenotype_Ontology:HP:0001665 Human_Phenotype_Ontology:HP:0001666 Human_Phenotype_Ontology:HP:0001687 Human_Phenotype_Ontology:HP:0001721 Human_Phenotype_Ontology:HP:0004351 Human_Phenotype_Ontology:HP:0005158 Human_Phenotype_Ontology:HP:0011675 MedGen:C0003811 MedGen:CN169374 MedGen:CN517202 Human_Phenotype_Ontology:HP:0001638 MONDO MedGen:C0878544 Orphanet:167848 MONDO MedGen:C1631597 OMIM:604772 Orphanet:3286 MONDO MedGen:C1832931	RYR2	Germline		NC_000001.10:g.237551376T>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA010312	10754602	Single Nucleotide Variant		0.52728	0.55651	52986
1	237580606	rs6673182 - 671745	T/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	RYR2	Germline		NC_000001.10:g.237580606G>T	Criteria Provided Single Submitter		6673182	Single Nucleotide Variant			0.87420	657541
1	237617757	rs3765097 - 43728	T/T	Benign	Cardiac Arrhythmia Cardiovascular Phenotype Not Specified Not Provided Cardiomyopathy Catecholaminergic Polymorphic Ventricular Tachycardia 1 Arrhythmogenic Right Ventricular Dysplasia 2	SNV	synonymous_variant	EFO:EFO_0004269 Human_Phenotype_Ontology:HP:0001656 Human_Phenotype_Ontology:HP:0001661 Human_Phenotype_Ontology:HP:0001665 Human_Phenotype_Ontology:HP:0001666 Human_Phenotype_Ontology:HP:0001687 Human_Phenotype_Ontology:HP:0001721 Human_Phenotype_Ontology:HP:0004351 Human_Phenotype_Ontology:HP:0005158 Human_Phenotype_Ontology:HP:0011675 MedGen:C0003811 MedGen:CN230736 MedGen:CN169374 MedGen:CN517202 Human_Phenotype_Ontology:HP:0001638 MONDO MedGen:C0878544 Orphanet:167848 MONDO MedGen:C1631597 OMIM:604772 Orphanet:3286 MONDO MedGen:C1832931	RYR2	Germline		NC_000001.10:g.237617757C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA007981	3765097	Single Nucleotide Variant	0.57552	0.51193	0.53574	52897
1	237620049	rs2045955 - 43752	C/C	Benign	Cardiac Arrhythmia Cardiovascular Phenotype Not Provided Not Specified Catecholaminergic Polymorphic Ventricular Tachycardia 1 Arrhythmogenic Right Ventricular Dysplasia 2	SNV	intron_variant	EFO:EFO_0004269 Human_Phenotype_Ontology:HP:0001656 Human_Phenotype_Ontology:HP:0001661 Human_Phenotype_Ontology:HP:0001665 Human_Phenotype_Ontology:HP:0001666 Human_Phenotype_Ontology:HP:0001687 Human_Phenotype_Ontology:HP:0001721 Human_Phenotype_Ontology:HP:0004351 Human_Phenotype_Ontology:HP:0005158 Human_Phenotype_Ontology:HP:0011675 MedGen:C0003811 MedGen:CN230736 MedGen:CN517202 MedGen:CN169374 MONDO MedGen:C1631597 OMIM:604772 Orphanet:3286 MONDO MedGen:C1832931	RYR2	Germline		NC_000001.10:g.237620049T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA008519	2045955	Single Nucleotide Variant	0.55142	0.46338	0.53115	52921
1	237654831	rs2127155 - 683767	T/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	RYR2	Germline		NC_000001.10:g.237654831G>T	Criteria Provided Single Submitter		2127155	Single Nucleotide Variant			0.66753	657521
1	237663757	rs2618698 - 683771	A/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	RYR2	Germline		NC_000001.10:g.237663757G>A	Criteria Provided Single Submitter		2618698	Single Nucleotide Variant			0.56090	657552
1	237670140	rs2618702 - 257205	G/G	Benign	Catecholaminergic Polymorphic Ventricular Tachycardia 1 Cardiac Arrhythmia Not Provided Arrhythmogenic Right Ventricular Dysplasia 2 Not Specified	SNV	intron_variant	MONDO MedGen:C1631597 OMIM:604772 Orphanet:3286 EFO:EFO_0004269 Human_Phenotype_Ontology:HP:0001656 Human_Phenotype_Ontology:HP:0001661 Human_Phenotype_Ontology:HP:0001665 Human_Phenotype_Ontology:HP:0001666 Human_Phenotype_Ontology:HP:0001687 Human_Phenotype_Ontology:HP:0001721 Human_Phenotype_Ontology:HP:0004351 Human_Phenotype_Ontology:HP:0005158 Human_Phenotype_Ontology:HP:0011675 MedGen:C0003811 MedGen:CN517202 MONDO MedGen:C1832931 MedGen:CN169374	RYR2	Germline		NC_000001.10:g.237670140A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA086116	2618702	Single Nucleotide Variant	0.68044	0.71047	0.69948	249819
1	237711457	rs2618662 - 683776	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	RYR2	Germline		NC_000001.10:g.237711457A>G	Criteria Provided Single Submitter		2618662	Single Nucleotide Variant			0.83027	657569
1	237711797	rs2253273 - 43763	G/A	Benign	Cardiac Arrhythmia Cardiovascular Phenotype Not Specified Not Provided Cardiomyopathy Catecholaminergic Polymorphic Ventricular Tachycardia 1 Arrhythmogenic Right Ventricular Dysplasia 2	SNV	synonymous_variant	EFO:EFO_0004269 Human_Phenotype_Ontology:HP:0001656 Human_Phenotype_Ontology:HP:0001661 Human_Phenotype_Ontology:HP:0001665 Human_Phenotype_Ontology:HP:0001666 Human_Phenotype_Ontology:HP:0001687 Human_Phenotype_Ontology:HP:0001721 Human_Phenotype_Ontology:HP:0004351 Human_Phenotype_Ontology:HP:0005158 Human_Phenotype_Ontology:HP:0011675 MedGen:C0003811 MedGen:CN230736 MedGen:CN169374 MedGen:CN517202 Human_Phenotype_Ontology:HP:0001638 MONDO MedGen:C0878544 Orphanet:167848 MONDO MedGen:C1631597 OMIM:604772 Orphanet:3286 MONDO MedGen:C1832931	RYR2	Germline		NC_000001.10:g.237711797A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA008996	2253273	Single Nucleotide Variant		0.85111	0.83027	52932
1	237730169	rs2779401 - 671751	T/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	RYR2	Germline		NC_000001.10:g.237730169C>T	Criteria Provided Single Submitter		2779401	Single Nucleotide Variant			0.91933	657534
1	237754340	rs1332777 - 257210	A/G	Benign	Not Specified Not Provided	SNV	intron_variant	MedGen:CN169374 MedGen:CN517202	RYR2	Germline		NC_000001.10:g.237754340A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA086546	1332777	Single Nucleotide Variant	0.44671	0.38631	0.33746	249823
1	237755076	rs56229512 - 43782	A/G	Benign/Likely Benign	Cardiovascular Phenotype Not Specified Arrhythmogenic Right Ventricular Dysplasia 2 Not Provided Cardiomyopathy Catecholaminergic Polymorphic Ventricular Tachycardia 1 Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	SNV	missense_variant	MedGen:CN230736 MedGen:CN169374 MONDO MedGen:C1832931 MedGen:CN517202 Human_Phenotype_Ontology:HP:0001638 MONDO MedGen:C0878544 Orphanet:167848 MONDO MedGen:C1631597 OMIM:604772 Orphanet:3286 MONDO MedGen:C5542154 OMIM:115000	RYR2	Germline		NC_000001.10:g.237755076A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA009486	56229512	Single Nucleotide Variant	0.01824	0.01610	0.00719	52951
1	237765657	rs3820572 - 669225	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	RYR2	Germline		NC_000001.10:g.237765657G>A	Criteria Provided Single Submitter		3820572	Single Nucleotide Variant			0.23343	657576
1	237788862	rs571026 - 671770	C/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	RYR2	Germline		NC_000001.10:g.237788862T>C	Criteria Provided Single Submitter		571026	Single Nucleotide Variant			0.74002	657666
1	237789317	rs512336 - 672078	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	RYR2	Germline		NC_000001.10:g.237789317A>G	Criteria Provided Single Submitter		512336	Single Nucleotide Variant			0.83107	657603
1	237794603	rs1759123 - 671772	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	RYR2	Germline		NC_000001.10:g.237794603A>G	Criteria Provided Single Submitter		1759123	Single Nucleotide Variant			0.61502	657607
1	237796837	rs10802626 - 257214	G/A	Benign	Arrhythmogenic Right Ventricular Dysplasia 2 Not Provided Cardiac Arrhythmia Catecholaminergic Polymorphic Ventricular Tachycardia 1 Not Specified	SNV	intron_variant	MONDO MedGen:C1832931 MedGen:CN517202 EFO:EFO_0004269 Human_Phenotype_Ontology:HP:0001656 Human_Phenotype_Ontology:HP:0001661 Human_Phenotype_Ontology:HP:0001665 Human_Phenotype_Ontology:HP:0001666 Human_Phenotype_Ontology:HP:0001687 Human_Phenotype_Ontology:HP:0001721 Human_Phenotype_Ontology:HP:0004351 Human_Phenotype_Ontology:HP:0005158 Human_Phenotype_Ontology:HP:0011675 MedGen:C0003811 MONDO MedGen:C1631597 OMIM:604772 Orphanet:3286 MedGen:CN169374	RYR2	Germline		NC_000001.10:g.237796837G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA087151	10802626	Single Nucleotide Variant	0.36365	0.38679	0.42851	249826
1	237797082	rs1967579 - 671205	T/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	RYR2	Germline		NC_000001.10:g.237797082T>G	Criteria Provided Single Submitter		1967579	Single Nucleotide Variant			0.44070	657616
1	237801770	rs707189 - 43819	C/C	Benign	Not Specified Cardiac Arrhythmia Cardiovascular Phenotype Not Provided Cardiomyopathy Catecholaminergic Polymorphic Ventricular Tachycardia 1 Arrhythmogenic Right Ventricular Dysplasia 2	SNV	synonymous_variant	MedGen:CN169374 EFO:EFO_0004269 Human_Phenotype_Ontology:HP:0001656 Human_Phenotype_Ontology:HP:0001661 Human_Phenotype_Ontology:HP:0001665 Human_Phenotype_Ontology:HP:0001666 Human_Phenotype_Ontology:HP:0001687 Human_Phenotype_Ontology:HP:0001721 Human_Phenotype_Ontology:HP:0004351 Human_Phenotype_Ontology:HP:0005158 Human_Phenotype_Ontology:HP:0011675 MedGen:C0003811 MedGen:CN230736 MedGen:CN517202 Human_Phenotype_Ontology:HP:0001638 MONDO MedGen:C0878544 Orphanet:167848 MONDO MedGen:C1631597 OMIM:604772 Orphanet:3286 MONDO MedGen:C1832931	RYR2	Germline		NC_000001.10:g.237801770T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA010376	707189	Single Nucleotide Variant	0.98839	0.95921	0.95487	52988
1	237814783	rs684923 - 43827	T/C	Benign	Cardiac Arrhythmia Cardiovascular Phenotype Not Specified Not Provided Cardiomyopathy Catecholaminergic Polymorphic Ventricular Tachycardia 1 Arrhythmogenic Right Ventricular Dysplasia 2	SNV	synonymous_variant	EFO:EFO_0004269 Human_Phenotype_Ontology:HP:0001656 Human_Phenotype_Ontology:HP:0001661 Human_Phenotype_Ontology:HP:0001665 Human_Phenotype_Ontology:HP:0001666 Human_Phenotype_Ontology:HP:0001687 Human_Phenotype_Ontology:HP:0001721 Human_Phenotype_Ontology:HP:0004351 Human_Phenotype_Ontology:HP:0005158 Human_Phenotype_Ontology:HP:0011675 MedGen:C0003811 MedGen:CN230736 MedGen:CN169374 MedGen:CN517202 Human_Phenotype_Ontology:HP:0001638 MONDO MedGen:C0878544 Orphanet:167848 MONDO MedGen:C1631597 OMIM:604772 Orphanet:3286 MONDO MedGen:C1832931	RYR2	Germline		NC_000001.10:g.237814783C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA010762	684923	Single Nucleotide Variant	0.51982	0.45073	0.55491	52996
1	237863718	rs2797436 - 43836	G/G	Benign/Likely Benign	Cardiac Arrhythmia Cardiovascular Phenotype Not Specified Not Provided Cardiomyopathy Catecholaminergic Polymorphic Ventricular Tachycardia 1 Arrhythmogenic Right Ventricular Dysplasia 2 Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	SNV	synonymous_variant	EFO:EFO_0004269 Human_Phenotype_Ontology:HP:0001656 Human_Phenotype_Ontology:HP:0001661 Human_Phenotype_Ontology:HP:0001665 Human_Phenotype_Ontology:HP:0001666 Human_Phenotype_Ontology:HP:0001687 Human_Phenotype_Ontology:HP:0001721 Human_Phenotype_Ontology:HP:0004351 Human_Phenotype_Ontology:HP:0005158 Human_Phenotype_Ontology:HP:0011675 MedGen:C0003811 MedGen:CN230736 MedGen:CN169374 MedGen:CN517202 Human_Phenotype_Ontology:HP:0001638 MONDO MedGen:C0878544 Orphanet:167848 MONDO MedGen:C1631597 OMIM:604772 Orphanet:3286 MONDO MedGen:C1832931 MONDO MedGen:C5542154 OMIM:115000	RYR2	Germline		NC_000001.10:g.237863718T>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA011162	2797436	Single Nucleotide Variant		0.97182	0.96925	53005
1	237886146	rs2090876 - 683790	A/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	RYR2	Germline		NC_000001.10:g.237886146C>A	Criteria Provided Single Submitter		2090876	Single Nucleotide Variant			0.30272	657675
1	237890437	rs2685301 - 43702	T/T	Benign	Not Specified Cardiac Arrhythmia Cardiovascular Phenotype Not Provided Cardiomyopathy Catecholaminergic Polymorphic Ventricular Tachycardia 1 Arrhythmogenic Right Ventricular Dysplasia 2	SNV	synonymous_variant	MedGen:CN169374 EFO:EFO_0004269 Human_Phenotype_Ontology:HP:0001656 Human_Phenotype_Ontology:HP:0001661 Human_Phenotype_Ontology:HP:0001665 Human_Phenotype_Ontology:HP:0001666 Human_Phenotype_Ontology:HP:0001687 Human_Phenotype_Ontology:HP:0001721 Human_Phenotype_Ontology:HP:0004351 Human_Phenotype_Ontology:HP:0005158 Human_Phenotype_Ontology:HP:0011675 MedGen:C0003811 MedGen:CN230736 MedGen:CN517202 Human_Phenotype_Ontology:HP:0001638 MONDO MedGen:C0878544 Orphanet:167848 MONDO MedGen:C1631597 OMIM:604772 Orphanet:3286 MONDO MedGen:C1832931	RYR2	Germline		NC_000001.10:g.237890437C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA006769	2685301	Single Nucleotide Variant	0.98853	0.96078	0.96026	52871
1	237893674	rs2797445 - 198668	T/T	Benign	Cardiac Arrhythmia Not Specified Not Provided Catecholaminergic Polymorphic Ventricular Tachycardia 1 Arrhythmogenic Right Ventricular Dysplasia 2	SNV	intron_variant	EFO:EFO_0004269 Human_Phenotype_Ontology:HP:0001656 Human_Phenotype_Ontology:HP:0001661 Human_Phenotype_Ontology:HP:0001665 Human_Phenotype_Ontology:HP:0001666 Human_Phenotype_Ontology:HP:0001687 Human_Phenotype_Ontology:HP:0001721 Human_Phenotype_Ontology:HP:0004351 Human_Phenotype_Ontology:HP:0005158 Human_Phenotype_Ontology:HP:0011675 MedGen:C0003811 MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C1631597 OMIM:604772 Orphanet:3286 MONDO MedGen:C1832931	RYR2	Germline		NC_000001.10:g.237893674C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA006803	2797445	Single Nucleotide Variant	0.99539	0.98538	0.98522	195829
1	237946964	rs790889 - 43716	C/C	Benign	Cardiac Arrhythmia Not Specified Arrhythmogenic Right Ventricular Dysplasia 2 Not Provided Cardiomyopathy Catecholaminergic Polymorphic Ventricular Tachycardia 1	SNV	intron_variant	EFO:EFO_0004269 Human_Phenotype_Ontology:HP:0001656 Human_Phenotype_Ontology:HP:0001661 Human_Phenotype_Ontology:HP:0001665 Human_Phenotype_Ontology:HP:0001666 Human_Phenotype_Ontology:HP:0001687 Human_Phenotype_Ontology:HP:0001721 Human_Phenotype_Ontology:HP:0004351 Human_Phenotype_Ontology:HP:0005158 Human_Phenotype_Ontology:HP:0011675 MedGen:C0003811 MedGen:CN169374 MONDO MedGen:C1832931 MedGen:CN517202 Human_Phenotype_Ontology:HP:0001638 MONDO MedGen:C0878544 Orphanet:167848 MONDO MedGen:C1631597 OMIM:604772 Orphanet:3286	RYR2	Germline		NC_000001.10:g.237946964T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA007261	790889	Single Nucleotide Variant		0.32671	0.41474	52885
1	237951451	rs2256242 - 93476	G/G	Benign	Cardiac Arrhythmia Not Specified Not Provided Catecholaminergic Polymorphic Ventricular Tachycardia 1 Arrhythmogenic Right Ventricular Dysplasia 2	SNV	intron_variant	EFO:EFO_0004269 Human_Phenotype_Ontology:HP:0001656 Human_Phenotype_Ontology:HP:0001661 Human_Phenotype_Ontology:HP:0001665 Human_Phenotype_Ontology:HP:0001666 Human_Phenotype_Ontology:HP:0001687 Human_Phenotype_Ontology:HP:0001721 Human_Phenotype_Ontology:HP:0004351 Human_Phenotype_Ontology:HP:0005158 Human_Phenotype_Ontology:HP:0011675 MedGen:C0003811 MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C1631597 OMIM:604772 Orphanet:3286 MONDO MedGen:C1832931	RYR2	Germline		NC_000001.10:g.237951451A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA007913	2256242	Single Nucleotide Variant	0.57500	0.61764	0.63658	99381
1	237957161	rs790901 - 43731	G/G	Benign	Cardiac Arrhythmia Not Specified Cardiomyopathy Catecholaminergic Polymorphic Ventricular Tachycardia 1 Arrhythmogenic Right Ventricular Dysplasia 2	SNV	intron_variant	EFO:EFO_0004269 Human_Phenotype_Ontology:HP:0001656 Human_Phenotype_Ontology:HP:0001661 Human_Phenotype_Ontology:HP:0001665 Human_Phenotype_Ontology:HP:0001666 Human_Phenotype_Ontology:HP:0001687 Human_Phenotype_Ontology:HP:0001721 Human_Phenotype_Ontology:HP:0004351 Human_Phenotype_Ontology:HP:0005158 Human_Phenotype_Ontology:HP:0011675 MedGen:C0003811 MedGen:CN169374 Human_Phenotype_Ontology:HP:0001638 MONDO MedGen:C0878544 Orphanet:167848 MONDO MedGen:C1631597 OMIM:604772 Orphanet:3286 MONDO MedGen:C1832931	RYR2	Germline		NC_000001.10:g.237957161A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA008056	790901	Single Nucleotide Variant	0.73989	0.65138	0.75759	52900
1	237957309	rs790900 - 43732	C/C	Benign	Cardiac Arrhythmia Not Specified Arrhythmogenic Right Ventricular Dysplasia 2 Not Provided Catecholaminergic Polymorphic Ventricular Tachycardia 1	SNV	intron_variant	EFO:EFO_0004269 Human_Phenotype_Ontology:HP:0001656 Human_Phenotype_Ontology:HP:0001661 Human_Phenotype_Ontology:HP:0001665 Human_Phenotype_Ontology:HP:0001666 Human_Phenotype_Ontology:HP:0001687 Human_Phenotype_Ontology:HP:0001721 Human_Phenotype_Ontology:HP:0004351 Human_Phenotype_Ontology:HP:0005158 Human_Phenotype_Ontology:HP:0011675 MedGen:C0003811 MedGen:CN169374 MONDO MedGen:C1832931 MedGen:CN517202 MONDO MedGen:C1631597 OMIM:604772 Orphanet:3286	RYR2	Germline		NC_000001.10:g.237957309A>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA008079	790900	Single Nucleotide Variant	0.72731	0.64784	0.75080	52901
1	237965043	rs2790347 - 672163	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	RYR2	Germline		NC_000001.10:g.237965043A>G	Criteria Provided Single Submitter		2790347	Single Nucleotide Variant			0.46226	657735
1	237997087	rs12594 - 296809	A/G	Benign	Catecholaminergic Polymorphic Ventricular Tachycardia 1 Arrhythmogenic Right Ventricular Dysplasia 2 Not Provided	SNV	3_prime_UTR_variant	MONDO MedGen:C1631597 OMIM:604772 Orphanet:3286 MONDO MedGen:C1832931 MedGen:CN517202	RYR2	Germline		NC_000001.10:g.237997087A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA10610778	12594	Single Nucleotide Variant			0.24681	281876
1	240070603	rs3738435 - 1253741	T/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	CHRM3	Germline		NC_000001.10:g.240070603T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1243678
1	240341268	rs3765588 - 1285274	A/G	Benign	Intellectual Disability Autosomal Recessive 47	SNV	synonymous_variant	MONDO MedGen:C4015444 OMIM:616193 Orphanet:88616	FMN2	Germline		NC_000001.10:g.240341268A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1275117
1	241667244	rs4659607 - 1264123	T/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	FH	Germline		NC_000001.10:g.241667244G>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1254021
1	241671638	rs11802956 - 683908	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	FH	Germline		NC_000001.10:g.241671638C>T	Criteria Provided Single Submitter		11802956	Single Nucleotide Variant			0.38179	657728
1	242121377	rs61736147 - 769259	T/G	Benign	Not Provided	SNV	missense_variant	MedGen:CN517202	BECN2	Germline		NC_000001.10:g.242121377T>G	Criteria Provided Single Submitter		61736147	Single Nucleotide Variant			0.02716	696624
1	242121796	rs3851304 - 767772	G/T	Benign	Not Provided	SNV	missense_variant	MedGen:CN517202	BECN2	Germline		NC_000001.10:g.242121796G>T	Criteria Provided Single Submitter		3851304	Single Nucleotide Variant			0.29173	696626
1	243449881	rs3818802 - 1177722	A/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	SDCCAG8	Germline		NC_000001.10:g.243449881G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1167195
1	243579112	rs10927011 - 260009	A/G	Benign	Not Provided Senior-Loken Syndrome 7 Not Specified Bardet-Biedl Syndrome 16	SNV	synonymous_variant	MedGen:CN517202 MONDO MedGen:C3150877 OMIM:613615 Orphanet:3156 MedGen:CN169374 MONDO MedGen:C3889474 OMIM:615993 Orphanet:110	SDCCAG8	Germline		NC_000001.10:g.243579112G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1483713	10927011	Single Nucleotide Variant	0.48892	0.39220	0.43950	249854
1	245861571	rs3205034 - 1262250	C/T	Benign	Not Provided	SNV	synonymous_variant	MedGen:CN517202	KIF26B	Germline		NC_000001.10:g.245861571C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1253441
1	247587477	rs3806268 - 138528	A/A	Benign	Keratitis Fugax Hereditaria Cryopyrin Associated Periodic Syndrome Not Specified Not Provided Familial Cold Autoinflammatory Syndrome 1 Familial Amyloid Nephropathy With Urticaria AND Deafness Chronic Infantile Neurological Cutaneous And Articular Syndrome	SNV	synonymous_variant	MONDO MedGen:C1835697 OMIM:148200 MONDO MedGen:C2316212 Orphanet:208650 MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C4551895 OMIM:120100 Orphanet:47045 MONDO MedGen:C0268390 OMIM:191900 Orphanet:575 MONDO MedGen:C0409818 OMIM:607115 Orphanet:1451	NLRP3	Germline		NC_000001.10:g.247587477G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA292555	3806268	Single Nucleotide Variant		0.40597	0.38738	142231
1	247587531	rs4925543 - 403243	G/G	Benign	Familial Cold Autoinflammatory Syndrome 1 Familial Amyloid Nephropathy With Urticaria AND Deafness Chronic Infantile Neurological Cutaneous And Articular Syndrome Keratitis Fugax Hereditaria Not Provided Cryopyrin Associated Periodic Syndrome Not Specified	SNV	synonymous_variant	MONDO MedGen:C4551895 OMIM:120100 Orphanet:47045 MONDO MedGen:C0268390 OMIM:191900 Orphanet:575 MONDO MedGen:C0409818 OMIM:607115 Orphanet:1451 MONDO MedGen:C1835697 OMIM:148200 MedGen:CN517202 MONDO MedGen:C2316212 Orphanet:208650 MedGen:CN169374	NLRP3	Germline		NC_000001.10:g.247587531A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1494932	4925543	Single Nucleotide Variant	0.94259	0.91881	0.91993	389399
1	247588858	rs35829419 - 259561	C/A	Conflicting Interpretations Of Pathogenicity	Autoinflammatory Syndrome Familial Amyloid Nephropathy With Urticaria AND Deafness Chronic Infantile Neurological Cutaneous And Articular Syndrome Focal Segmental Glomerulosclerosis Familial Cold Autoinflammatory Syndrome 1 Cryopyrin Associated Periodic Syndrome Not Specified Not Provided	SNV	missense_variant	MONDO MedGen:C3890737 Orphanet:93665 MONDO MedGen:C0268390 OMIM:191900 Orphanet:575 MONDO MedGen:C0409818 OMIM:607115 Orphanet:1451 Human_Phenotype_Ontology:HP:0000097 Human_Phenotype_Ontology:HP:0004747 MONDO MedGen:C0017668 MONDO MedGen:C4551895 OMIM:120100 Orphanet:47045 MONDO MedGen:C2316212 Orphanet:208650 MedGen:CN169374 MedGen:CN517202	NLRP3	Germline		NC_000001.10:g.247588858C>A	Criteria Provided Conflicting Interpretations	Clingen:CA1495112 Uniprotkb:Q96P20#VAR 043693	35829419	Single Nucleotide Variant	0.04095	0.03483	0.02236	249858			Uncertain_significance(1)\|Benign(12)
1	247599070	rs4612666 - 1169053	C/C	Benign	Cryopyrin Associated Periodic Syndrome	SNV	intron_variant	MONDO MedGen:C2316212 Orphanet:208650	NLRP3	Germline		NC_000001.10:g.247599070T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1153557
1	247599232	rs10754557 - 1259697	A/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	NLRP3	Germline		NC_000001.10:g.247599232G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1249182
1	248059423	rs10888267 - 1582338	T/T	Benign	Not Provided	SNV	missense_variant	MedGen:CN517202	OR2W3	Germline		NC_000001.10:g.248059423C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1662401
1	248059456	i6059058 - 1600429	G/A	Benign	Not Provided	SNV	missense_variant	MedGen:CN517202	OR2W3	Germline		NC_000001.10:g.248059456G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1631988
1	248059476	rs12139390 - 1602754	C/A	Benign	Not Provided	SNV	missense_variant	MedGen:CN517202	OR2W3	Germline		NC_000001.10:g.248059476A>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1611093
1	248059712	rs11204546 - 1582349	C/C	Benign	Not Provided	SNV	missense_variant	MedGen:CN517202	OR2W3	Germline		NC_000001.10:g.248059712T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1662412
2	277003	i6060594 - 13685	A/G	Benign	ACID PHOSPHATASE 1 SOLUBLE A/B POLYMORPHISM OF	SNV	SO:0001583 missense_variantSO:0001619 non-coding_transcript_variant		ACP1	Germline		NC_000002.11:g.277003A>G	No Assertion Criteria Provided	Clingen:CA123351 OMIM:171500.0001 Uniprotkb:P24666#VAR 006171	79716074	Single Nucleotide Variant	0.31664		0.26418	28724
2	634905	rs6548238 - 812169	C/C	Risk Factor	Obesity	SNV		Human_Phenotype_Ontology:HP:0001513 MONDO MeSH:D009765 MedGen:C0028754 Orphanet:521399 Orphanet:71529		Unknown		NC_000002.11:g.634905T>C	No Assertion Criteria Provided		6548238	Single Nucleotide Variant			0.87700	800415
2	1426621	rs2276702 - 1272828	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	TPO	Germline		NC_000002.11:g.1426621A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1262293
2	1427107	rs9678469 - 1182365	A/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	TPO	Germline		NC_000002.11:g.1427107G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1170806
2	1437410	rs4927578 - 1281167	T/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	TPO	Germline		NC_000002.11:g.1437410C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1271885
2	1460004	rs4927611 - 256616	G/T	Benign	Not Provided Deficiency Of Iodide Peroxidase Not Specified	SNV	missense_variant	MedGen:CN517202 MONDO MedGen:C1291299 OMIM:274500 Orphanet:95716 MedGen:CN169374	TPO	Germline		NC_000002.11:g.1460004G>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1511564 Uniprotkb:P07202#VAR 006057	4927611	Single Nucleotide Variant		0.38129	0.36542	250166
2	1460140	rs4927612 - 1281396	A/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	TPO	Germline		NC_000002.11:g.1460140A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1270391
2	1497803	rs17415659 - 256608	C/T	Benign	Not Specified Deficiency Of Iodide Peroxidase	SNV	synonymous_variant	MedGen:CN169374 MONDO MedGen:C1291299 OMIM:274500 Orphanet:95716	TPO	Germline		NC_000002.11:g.1497803C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1511906	1126797	Single Nucleotide Variant	0.36304	0.35053	0.35903	250170
2	1499728	rs2276704 - 1235369	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	TPO	Germline		NC_000002.11:g.1499728C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1225749
2	1499927	rs732609 - 256611	A/C	Benign	Deficiency Of Iodide Peroxidase Not Specified	SNV	missense_variant	MONDO MedGen:C1291299 OMIM:274500 Orphanet:95716 MedGen:CN169374	TPO	Germline		NC_000002.11:g.1499927A>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1511969 Uniprotkb:P07202#VAR 006061	732609	Single Nucleotide Variant	0.42798	0.47032	0.49840	250174
2	1520676	rs1126799 - 256614	C/T	Benign	Not Provided Not Specified Deficiency Of Iodide Peroxidase	SNV	missense_variant	MedGen:CN517202 MedGen:CN169374 MONDO MedGen:C1291299 OMIM:274500 Orphanet:95716	TPO	Germline		NC_000002.11:g.1520676T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1512182 Uniprotkb:P07202#VAR 027237	1126799	Single Nucleotide Variant	0.58982	0.61326	0.66394	250292
2	1544617	rs12615819 - 1245416	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	TPO	Germline		NC_000002.11:g.1544617G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1235369
2	1637648	rs1054241 - 1181985	C/C	Benign	Not Provided	SNV	3_prime_UTR_variant	MedGen:CN517202	PXDN	Germline		NC_000002.11:g.1637648T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1170815
2	1643456	rs7575438 - 1280482	C/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	PXDN	Germline		NC_000002.11:g.1643456T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1272578
2	1647171	rs6730800 - 260228	C/C	Benign	Anterior Segment Dysgenesis 7 Not Provided Not Specified	SNV	synonymous_variant	MONDO MedGen:C3151617 OMIM:269400 Orphanet:289499 MedGen:CN517202 MedGen:CN169374	PXDN	Germline		NC_000002.11:g.1647171T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1512580	6730800	Single Nucleotide Variant		0.86344	0.90775	250314
2	1652660	rs3811613 - 260224	A/A	Benign	Anterior Segment Dysgenesis 7 Not Specified Not Provided	SNV	synonymous_variant	MONDO MedGen:C3151617 OMIM:269400 Orphanet:289499 MedGen:CN169374 MedGen:CN517202	PXDN	Germline		NC_000002.11:g.1652660G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1512860	3811613	Single Nucleotide Variant		0.25024	0.24481	250318
2	1652822	rs1863135 - 260223	G/G	Benign	Anterior Segment Dysgenesis 7 Not Provided Not Specified	SNV	synonymous_variant	MONDO MedGen:C3151617 OMIM:269400 Orphanet:289499 MedGen:CN517202 MedGen:CN169374	PXDN	Germline		NC_000002.11:g.1652822T>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1512906	1863135	Single Nucleotide Variant		0.89915	0.93550	250319
2	1658550	rs1477496 - 1237851	T/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	PXDN	Germline		NC_000002.11:g.1658550C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1229470
2	1664654	rs17841813 - 260220	G/G	Benign	Anterior Segment Dysgenesis 7 Not Specified Not Provided	SNV	synonymous_variant	MONDO MedGen:C3151617 OMIM:269400 Orphanet:289499 MedGen:CN169374 MedGen:CN517202	PXDN	Germline		NC_000002.11:g.1664654A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1513198	17841813	Single Nucleotide Variant	0.75601	0.71349	0.81090	250345
2	1668566	rs890055 - 1185422	G/G	Benign	Not Provided Anterior Segment Dysgenesis 7	SNV	intron_variant	MedGen:CN517202 MONDO MedGen:C3151617 OMIM:269400 Orphanet:289499	PXDN	Germline		NC_000002.11:g.1668566A>G	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1175268
2	1688091	rs6710867 - 1237436	A/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	PXDN	Germline		NC_000002.11:g.1688091A>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1226560
2	1696016	rs2288183 - 1285811	A/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	PXDN	Germline		NC_000002.11:g.1696016G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1275650
2	1925993	rs2241685 - 1250002	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	MYT1L	Germline		NC_000002.11:g.1925993C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1240377
2	1946646	rs7355555 - 1287695	A/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	MYT1L	Germline		NC_000002.11:g.1946646A>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1277527
2	1946914	rs3748988 - 1174838	A/G	Benign	Not Specified	SNV	synonymous_variant	MedGen:CN169374	MYT1L	Germline		NC_000002.11:g.1946914A>G	No Assertion Criteria Provided			Single Nucleotide Variant				1164182
2	1946968	rs3748989 - 1266661	C/T	Benign	Not Provided	SNV	synonymous_variant	MedGen:CN517202	MYT1L	Germline		NC_000002.11:g.1946968C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1255696
2	1982877	rs2304007 - 1241462	T/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	MYT1L	Germline		NC_000002.11:g.1982877T>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1233519
2	1983619	rs7561518 - 1280744	A/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	MYT1L	Germline		NC_000002.11:g.1983619A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1272840
2	3392295	i6059575 - 1252377	G/G	Benign	Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome Not Provided	SNV	missense_variant	MONDO MedGen:C4540059 OMIM:617669 Orphanet:500144 MedGen:CN517202	TRAPPC12	Germline		NC_000002.11:g.3392295A>G	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1242323
2	3469463	rs4971514 - 1288076	C/C	Benign	Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome Not Provided	SNV	synonymous_variant	MONDO MedGen:C4540059 OMIM:617669 Orphanet:500144 MedGen:CN517202	TRAPPC12	Germline		NC_000002.11:g.3469463G>C	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1277908
2	3483205	rs6767 - 1342264	T/T	Benign	Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome Not Provided	SNV	synonymous_variant	MONDO MedGen:C4540059 OMIM:617669 Orphanet:500144 MedGen:CN517202	TRAPPC12	Germline		NC_000002.11:g.3483205C>T	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1333840
2	3605468	rs12711976 - 683668	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	RNASEH1	Germline		NC_000002.11:g.3605468A>G	Criteria Provided Single Submitter		12711976	Single Nucleotide Variant	0.71143		0.69189	659172
2	3623540	rs3087873 - 1292993	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	RPS7	Germline		NC_000002.11:g.3623540A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1282799
2	10194192	rs4669522 - 330669	C/C	Benign	Maturity-Onset Diabetes Of The Young Type 7	SNV	3_prime_UTR_variant	MONDO MedGen:C1864839 OMIM:610508 Orphanet:552	KLF11	Germline		NC_000002.11:g.10194192T>C	Criteria Provided Single Submitter	Clingen:CA10610539	4669522	Single Nucleotide Variant			0.83087	281495
2	10194487	rs7632 - 330674	C/T	Benign	Maturity-Onset Diabetes Of The Young Type 7	SNV	3_prime_UTR_variant	MONDO MedGen:C1864839 OMIM:610508 Orphanet:552	KLF11	Germline		NC_000002.11:g.10194487T>C	Criteria Provided Single Submitter	Clingen:CA10611758	7632	Single Nucleotide Variant			0.58706	283502
2	10530325	rs11888704 - 1691121	G/T	Association	Vascular Endothelial Growth Factor (VEGF) Inhibitor Response	SNV	intron_variant	MedGen:CN322758	HPCAL1	Germline		NC_000002.11:g.10530325G>T	No Assertion Criteria Provided			Single Nucleotide Variant				1683582
2	10580967	rs1049500 - 1280616	G/A	Benign	Not Provided	SNV	synonymous_variant	MedGen:CN517202	ODC1	Germline		NC_000002.11:g.10580967G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1272712
2	11053740	rs3732105 - 1294515	T/C	Benign	Not Provided	SNV	synonymous_variant	MedGen:CN517202	KCNF1	Germline		NC_000002.11:g.11053740C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1284311
2	11853913	rs4614906 - 403045	G/A	Benign	Not Provided Not Specified Hyperchloremia	SNV	SO:0001583 missense_variantSO:0001627 intron_variant	MedGen:CN517202 MedGen:CN169374 Human_Phenotype_Ontology:HP:0011423 MedGen:C0085679	LPIN1	Germline		NC_000002.11:g.11853913G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1533295	4614906	Single Nucleotide Variant	0.24758		0.15735	389482
2	11853964	rs4640359 - 683087	G/A	Benign	Not Provided Myoglobinuria Acute Recurrent Autosomal Recessive	SNV	intron_variant	MedGen:CN517202 MONDO MedGen:C1849386 OMIM:268200 Orphanet:99845	LPIN1	Germline		NC_000002.11:g.11853964G>A	Criteria Provided Multiple Submitters No Conflicts		4640359	Single Nucleotide Variant	0.24743		0.16294	657967
2	11924293	rs3762583 - 1229091	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	LPIN1	Germline		NC_000002.11:g.11924293G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1221643
2	11959905	rs2716609 - 1295170	T/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	LPIN1	Germline		NC_000002.11:g.11959905T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1284966
2	11959983	rs10495584 - 1257812	A/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	LPIN1	Germline		NC_000002.11:g.11959983A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1249861
2	11965541	rs2716639 - 330929	G/G	Benign	Myoglobinuria Acute Recurrent Autosomal Recessive	SNV	SO:0001619 non-coding_transcript_variantSO:0001624 3_prime_UTR_variant	MONDO MedGen:C1849386 OMIM:268200 Orphanet:99845	LPIN1	Germline		NC_000002.11:g.11965541A>G	Criteria Provided Single Submitter	Clingen:CA10612062	2716639	Single Nucleotide Variant			0.69489	284019
2	11965814	rs1050800 - 330932	C/T	Benign	Myoglobinuria Acute Recurrent Autosomal Recessive	SNV	SO:0001619 non-coding_transcript_variantSO:0001624 3_prime_UTR_variant	MONDO MedGen:C1849386 OMIM:268200 Orphanet:99845	LPIN1	Germline		NC_000002.11:g.11965814C>T	Criteria Provided Single Submitter	Clingen:CA10611923	1050800	Single Nucleotide Variant			0.11641	283783
2	11966317	rs11524 - 330940	T/C	Benign	Myoglobinuria Acute Recurrent Autosomal Recessive	SNV	SO:0001619 non-coding_transcript_variantSO:0001624 3_prime_UTR_variant	MONDO MedGen:C1849386 OMIM:268200 Orphanet:99845	LPIN1	Germline		NC_000002.11:g.11966317T>C	Criteria Provided Single Submitter	Clingen:CA10611937	11524	Single Nucleotide Variant			0.23123	283806
2	15378381	rs3764922 - 1294010	T/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	NBAS	Germline		NC_000002.11:g.15378381T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1283809
2	15427173	rs4668892 - 1253708	T/C	Benign	Not Provided Infantile Liver Failure Syndrome 2 Short Stature-Optic Atrophy-Pelger-Huc+T Anomaly Syndrome	SNV	intron_variant	MedGen:CN517202 MONDO MedGen:C3809651 OMIM:616483 MONDO MedGen:C3541319 OMIM:614800 Orphanet:391677	NBAS	Germline		NC_000002.11:g.15427173C>T	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1243645
2	15471002	rs6759219 - 1246084	C/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	NBAS	Germline		NC_000002.11:g.15471002C>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1237327
2	15514982	rs2049720 - 1277519	T/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	NBAS	Germline		NC_000002.11:g.15514982T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1266099
2	15519924	rs116210837 - 1165949	C/T	Benign	Not Provided	SNV	SO:0001583 missense_variantSO:0001619 non-coding_transcript_variant	MedGen:CN517202	NBAS	Germline		NC_000002.11:g.15519924C>T	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1153825
2	15564799	rs6748427 - 1252795	T/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	NBAS	Germline		NC_000002.11:g.15564799T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1242740
2	15607842	rs4668909 - 1168945	T/C	Benign	Short Stature-Optic Atrophy-Pelger-Huc+T Anomaly Syndrome Infantile Liver Failure Syndrome 2 Not Specified Not Provided	SNV	SO:0001583 missense_variantSO:0001619 non-coding_transcript_variant	MONDO MedGen:C3541319 OMIM:614800 Orphanet:391677 MONDO MedGen:C3809651 OMIM:616483 MedGen:CN169374 MedGen:CN517202	NBAS	Germline		NC_000002.11:g.15607842T>C	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1153835
2	15613678	rs11898971 - 1180195	T/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	NBAS	Germline		NC_000002.11:g.15613678T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1168863
2	15614404	rs13014906 - 1169871	T/C	Benign	Short Stature-Optic Atrophy-Pelger-Huc+T Anomaly Syndrome Not Specified Infantile Liver Failure Syndrome 2 Not Provided	SNV	SO:0001619 non-coding_transcript_variantSO:0001819 synonymous_variant	MONDO MedGen:C3541319 OMIM:614800 Orphanet:391677 MedGen:CN169374 MONDO MedGen:C3809651 OMIM:616483 MedGen:CN517202	NBAS	Germline		NC_000002.11:g.15614404T>C	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1153837
2	15615910	rs1990754 - 1169872	A/G	Benign	Short Stature-Optic Atrophy-Pelger-Huc+T Anomaly Syndrome Not Specified Infantile Liver Failure Syndrome 2 Not Provided	SNV	SO:0001619 non-coding_transcript_variantSO:0001819 synonymous_variant	MONDO MedGen:C3541319 OMIM:614800 Orphanet:391677 MedGen:CN169374 MONDO MedGen:C3809651 OMIM:616483 MedGen:CN517202	NBAS	Germline		NC_000002.11:g.15615910A>G	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1153838
2	15616215	rs2111449 - 1183715	T/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	NBAS	Germline		NC_000002.11:g.15616215C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1170811
2	15674389	rs13002869 - 1282028	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	NBAS	Germline		NC_000002.11:g.15674389C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1273255
2	15674686	rs13029846 - 1169874	T/C	Benign	Short Stature-Optic Atrophy-Pelger-Huc+T Anomaly Syndrome Not Specified Infantile Liver Failure Syndrome 2 Not Provided	SNV	SO:0001583 missense_variantSO:0001619 non-coding_transcript_variant	MONDO MedGen:C3541319 OMIM:614800 Orphanet:391677 MedGen:CN169374 MONDO MedGen:C3809651 OMIM:616483 MedGen:CN517202	NBAS	Germline		NC_000002.11:g.15674686T>C	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1153843
2	15696655	rs4133515 - 1183235	A/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	NBAS	Germline		NC_000002.11:g.15696655A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1170812
2	17941423	rs2555072 - 1261547	G/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	GEN1	Germline		NC_000002.11:g.17941423T>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1251454
2	17942775	rs1812152 - 1169875	A/T	Benign	Not Provided	SNV	missense_variant	MedGen:CN517202	GEN1	Germline		NC_000002.11:g.17942775T>A	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1153890
2	17943015	rs2615047 - 1231264	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	GEN1	Germline		NC_000002.11:g.17943015T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1221226
2	17954647	rs300178 - 1280388	G/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	GEN1	Germline		NC_000002.11:g.17954647T>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1272484
2	17962450	rs300168 - 1169877	G/A	Benign	Not Provided	SNV	synonymous_variant	MedGen:CN517202	GEN1	Germline		NC_000002.11:g.17962450A>G	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1153899
2	17962518	rs300169 - 1169878	T/C	Benign	Not Provided	SNV	missense_variant	MedGen:CN517202	GEN1	Germline		NC_000002.11:g.17962518C>T	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1153900
2	19552389	rs851066 - 1231818	C/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	OSR1	Germline		NC_000002.11:g.19552389T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1220489
2	20110483	rs74469198 - 333326	G/A	Benign	Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly Cranioectodermal Dysplasia 2	SNV	3_prime_UTR_variant	MONDO MedGen:C3279792 OMIM:614091 Orphanet:498497 Orphanet:93271 MONDO MedGen:C3150874 OMIM:613610 Orphanet:1515	WDR35	Germline		NC_000002.11:g.20110483G>A	Criteria Provided Single Submitter	Clingen:CA10613650	74469198	Single Nucleotide Variant			0.03754	286781
2	20160209	rs10169398 - 1281350	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	WDR35	Germline		NC_000002.11:g.20160209G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1270345
2	20189015	rs1060742 - 333407	T/C	Benign/Likely Benign	Multiple Epiphyseal Dysplasia Dominant Not Specified Cranioectodermal Dysplasia 2 Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly Short Rib-Polydactyly Syndrome Cranioectodermal Dysplasia	SNV	missense_variant	MedGen:CN043640 MedGen:CN169374 MONDO MedGen:C3150874 OMIM:613610 Orphanet:1515 MONDO MedGen:C3279792 OMIM:614091 Orphanet:498497 Orphanet:93271 MONDO MedGen:C0036996 Orphanet:1505 MONDO MedGen:C4551571 OMIM:PS218330 Orphanet:1515	MATN3	Germline		NC_000002.11:g.20189015T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1543648 Uniprotkb:Q9P2L0#VAR 053428	1060742	Single Nucleotide Variant	0.10651	0.06543	0.11861	283829
2	20189089	rs3731663 - 256876	T/T	Benign	Not Specified Cranioectodermal Dysplasia 2 Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly Not Provided	SNV	intron_variant	MedGen:CN169374 MONDO MedGen:C3150874 OMIM:613610 Orphanet:1515 MONDO MedGen:C3279792 OMIM:614091 Orphanet:498497 Orphanet:93271 MedGen:CN517202	WDR35	Germline		NC_000002.11:g.20189089C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1543658	3731663	Single Nucleotide Variant	0.54681	0.56812	0.62160	250473
2	20205680	rs28401180 - 195170	T/T	Benign	Not Specified Not Provided Multiple Epiphyseal Dysplasia Type 5	SNV	synonymous_variant	MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C1846843 OMIM:607078 Orphanet:93311	MATN3	Germline		NC_000002.11:g.20205680C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA201612	28401180	Single Nucleotide Variant	0.48371	0.42997	0.52436	192331
2	20205848	rs28598872 - 195169	A/A	Benign	Not Specified Not Provided Multiple Epiphyseal Dysplasia Type 5	SNV	synonymous_variant	MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C1846843 OMIM:607078 Orphanet:93311	MATN3	Germline		NC_000002.11:g.20205848G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA201610	28598872	Single Nucleotide Variant	0.47539	0.43688	0.52476	192330
2	21225281	rs1042034 - 128418	T/T	Benign	Cardiovascular Phenotype Hypercholesterolemia Autosomal Dominant Type B Familial Hypobetalipoproteinemia 1 Familial Hypercholesterolemia Not Specified Not Provided Warfarin Response Hypercholesterolemia Familial 1	SNV	missense_variant	MedGen:CN230736 MONDO MedGen:C1704417 OMIM:144010 MONDO MedGen:C4551990 OMIM:615558 MONDO MedGen:C0020445 OMIM:PS143890 MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C0750384 OMIM:122700 MONDO MedGen:C0745103 OMIM:143890 Orphanet:391665	APOB	Germline		NC_000002.11:g.21225281C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA022788		Single Nucleotide Variant				133867
2	21232195	rs693 - 128425	A/A	Benign	Cardiovascular Phenotype Hypercholesterolemia Autosomal Dominant Type B Familial Hypobetalipoproteinemia 1 Familial Hypercholesterolemia Not Specified Not Provided Warfarin Response Hypercholesterolemia Familial 1	SNV	synonymous_variant	MedGen:CN230736 MONDO MedGen:C1704417 OMIM:144010 MONDO MedGen:C4551990 OMIM:615558 MONDO MedGen:C0020445 OMIM:PS143890 MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C0750384 OMIM:122700 MONDO MedGen:C0745103 OMIM:143890 Orphanet:391665	APOB	Germline		NC_000002.11:g.21232195G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA022913	693	Single Nucleotide Variant	0.38994	0.41389	0.25100	133874
2	21235475	rs568413 - 1168906	C/C	Benign	Not Provided Not Specified Familial Hypobetalipoproteinemia 1 Hypercholesterolemia Autosomal Dominant Type B	sequence_alteration	no_sequence_alteration	MedGen:CN517202 MedGen:CN169374 MONDO MedGen:C4551990 OMIM:615558 MONDO MedGen:C1704417 OMIM:144010	APOB	Germline		NC_000002.11:g.21235475T>C	Criteria Provided Multiple Submitters No Conflicts			Variation				1153962
2	21263900	rs1367117 - 128422	G/A	Benign/Likely Benign	Cardiovascular Phenotype Hypercholesterolemia Autosomal Dominant Type B Familial Hypobetalipoproteinemia 1 Not Provided Familial Hypercholesterolemia Not Specified Hypercholesterolemia Familial 1 Warfarin Response	SNV	missense_variant	MedGen:CN230736 MONDO MedGen:C1704417 OMIM:144010 MONDO MedGen:C4551990 OMIM:615558 MedGen:CN517202 MONDO MedGen:C0020445 OMIM:PS143890 MedGen:CN169374 MONDO MedGen:C0745103 OMIM:143890 Orphanet:391665 MONDO MedGen:C0750384 OMIM:122700	APOB	Germline		NC_000002.11:g.21263900G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA022817		Single Nucleotide Variant				133871
2	21265141	rs661665 - 1192328	A/C	Benign	Familial Hypobetalipoproteinemia 1 Hypercholesterolemia Autosomal Dominant Type B	SNV	intron_variant	MONDO MedGen:C4551990 OMIM:615558 MONDO MedGen:C1704417 OMIM:144010	APOB	Germline		NC_000002.11:g.21265141C>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1182349
2	24431184	rs2303291 - 1240643	C/T	Benign	Not Provided	SNV	missense_variant	MedGen:CN517202	ITSN2	Germline		NC_000002.11:g.24431184C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1231464
2	24432211	rs2303293 - 1264044	T/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ITSN2	Germline		NC_000002.11:g.24432211C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1253942
2	24432620	rs2303294 - 1269903	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ITSN2	Germline		NC_000002.11:g.24432620A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1259760
2	24432839	rs2303296 - 1251753	A/G	Benign	Not Provided	SNV	synonymous_variant	MedGen:CN517202	ITSN2	Germline		NC_000002.11:g.24432839A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1240847
2	24509370	rs17733015 - 1271628	T/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ITSN2	Germline		NC_000002.11:g.24509370T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1260197
2	24521766	rs6707600 - 1226269	T/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	ITSN2	Germline		NC_000002.11:g.24521766C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1214947
2	24524958	rs7603997 - 1265149	C/T	Benign	Not Provided	SNV	missense_variant	MedGen:CN517202	ITSN2	Germline		NC_000002.11:g.24524958C>T	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1255475
2	25046090	rs1127568 - 1641173	C/C	Benign	Not Provided	SNV	SO:0001627 intron_variantSO:0001819 synonymous_variant	MedGen:CN517202	ADCY3	Germline		NC_000002.11:g.25046090T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1520107
2	25064193	rs2241759 - 1605686	A/A	Benign	Not Provided	SNV	synonymous_variant	MedGen:CN517202	ADCY3	Germline		NC_000002.11:g.25064193G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1646738
2	25383887	rs1042571 - 335352	A/A	Benign	Not Provided Obesity Due To Pro-Opiomelanocortin Deficiency Obesity	SNV	3_prime_UTR_variant	MedGen:CN517202 MONDO MedGen:C1857854 OMIM:609734 Orphanet:71526 Human_Phenotype_Ontology:HP:0001513 MONDO MeSH:D009765 MedGen:C0028754 Orphanet:521399 Orphanet:71529	POMC	Germline		NC_000002.11:g.25383887G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA10615033	1042571	Single Nucleotide Variant			0.11562	289041
2	25458379	rs10084238 - 1296213	A/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	DNMT3A	Germline		NC_000002.11:g.25458379G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1286008
2	25458546	rs2304429 - 1220822	T/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	DNMT3A	Germline		NC_000002.11:g.25458546C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1212509
2	25463483	rs2289195 - 1235844	A/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	DNMT3A	Germline		NC_000002.11:g.25463483G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1224964
2	25463871	rs734693 - 1183786	T/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	DNMT3A	Germline		NC_000002.11:g.25463871C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1170941
2	25466888	rs2289093 - 1247651	T/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	DNMT3A	Germline		NC_000002.11:g.25466888G>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1235030
2	25469913	rs2276599 - 1169864	T/T	Benign	Not Provided Tall Stature-Intellectual Disability-Facial Dysmorphism Syndrome	SNV	intron_variant	MedGen:CN517202 MONDO MedGen:C4014545 OMIM:615879 Orphanet:404443	DNMT3A	Germline		NC_000002.11:g.25469913C>T	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1154098
2	25472784	rs11681447 - 1296240	T/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	DNMT3A	Germline		NC_000002.11:g.25472784C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1286035
2	25565907	rs1550117 - 706983	G/G	Benign	Tall Stature-Intellectual Disability-Facial Dysmorphism Syndrome	SNV		MONDO MedGen:C4014545 OMIM:615879 Orphanet:404443	DNMT3A	Germline		NC_000002.11:g.25565907A>G	Criteria Provided Single Submitter		1550117	Single Nucleotide Variant			0.88578	695137
2	26413817	rs1049987 - 335371	C/T	Benign	Not Provided Mitochondrial Trifunctional Protein Deficiency Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	SNV	3_prime_UTR_variant	MedGen:CN517202 MONDO MedGen:C1969443 OMIM:609015 Orphanet:746 MONDO MedGen:C3711645 OMIM:609016 Orphanet:5	HADHA	Germline		NC_000002.11:g.26413817C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA10613367	1049987	Single Nucleotide Variant			0.14357	286343
2	26413917	rs7260 - 335372	T/C	Benign	Not Provided Mitochondrial Trifunctional Protein Deficiency Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	SNV	3_prime_UTR_variant	MedGen:CN517202 MONDO MedGen:C1969443 OMIM:609015 Orphanet:746 MONDO MedGen:C3711645 OMIM:609016 Orphanet:5	HADHA	Germline		NC_000002.11:g.26413917C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA10615051	7260	Single Nucleotide Variant			0.78754	289069
2	26420809	rs2289019 - 681693	C/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	HADHA	Germline		NC_000002.11:g.26420809G>C	Criteria Provided Single Submitter		2289019	Single Nucleotide Variant			0.85264	659036
2	26438276	rs962217 - 681690	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	HADHA	Germline		NC_000002.11:g.26438276T>C	Criteria Provided Single Submitter		962217	Single Nucleotide Variant			0.85284	659121
2	26454996	rs7593175 - 1173006	A/G	Benign	Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	SNV	intron_variant	MONDO MedGen:C3711645 OMIM:609016 Orphanet:5	HADHA	Germline		NC_000002.11:g.26454996A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1162155
2	26477650	rs2033317 - 680605	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	HADHB	Germline		NC_000002.11:g.26477650G>A	Criteria Provided Single Submitter		2033317	Single Nucleotide Variant			0.17732	659126
2	26502875	rs1056389 - 335407	T/C	Benign	Mitochondrial Trifunctional Protein Deficiency Not Provided	SNV	synonymous_variant	MONDO MedGen:C1969443 OMIM:609015 Orphanet:746 MedGen:CN517202	HADHB	Germline		NC_000002.11:g.26502875T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1560353	1056389	Single Nucleotide Variant	0.20587	0.16400	0.14557	289114
2	26653457	rs4450561 - 1235705	A/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	DRC1	Germline		NC_000002.11:g.26653457G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1226085
2	26671544	rs4072407 - 262565	G/G	Benign	Primary Ciliary Dyskinesia 21 Ciliary Dyskinesia Not Specified	SNV	intron_variant	MONDO MedGen:C3809087 OMIM:615294 Orphanet:244 Human_Phenotype_Ontology:HP:0012265 MONDO MedGen:C0008780 OMIM:PS244400 Orphanet:244 MedGen:CN169374	DRC1	Germline		NC_000002.11:g.26671544A>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA1562241	4072407	Single Nucleotide Variant	0.71572	0.67846	0.53035	250701
2	26676754	rs11684070 - 1233579	T/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	DRC1	Germline		NC_000002.11:g.26676754C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1222701
2	26677810	rs2280516 - 1289499	G/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	DRC1	Germline		NC_000002.11:g.26677810A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1279330
2	26688572	rs80356578 - 21854	G/A	Benign/Likely Benign	Not Specified Not Provided Autosomal Recessive Nonsyndromic Hearing Loss 9	SNV	synonymous_variant	MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C1832828 OMIM:601071 Orphanet:90636	OTOF	Germline		NC_000002.11:g.26688572G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA142899	80356578	Single Nucleotide Variant	0.02459	0.00338	0.02476	34706
2	26697950	rs4458167 - 1293809	A/G	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	OTOF	Germline		NC_000002.11:g.26697950G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1283610
2	26699126	rs4335905 - 21839	G/C	Benign	Not Specified Not Provided Autosomal Recessive Nonsyndromic Hearing Loss 9	SNV	synonymous_variant	MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C1832828 OMIM:601071 Orphanet:90636	OTOF	Germline		NC_000002.11:g.26699126C>G	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA142824	4335905	Single Nucleotide Variant		0.52979	0.70787	34691
2	26711829	rs12052886 - 1261054	C/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	OTOF	Germline		NC_000002.11:g.26711829C>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1252254
2	26718179	rs34780859 - 1253655	C/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	OTOF	Germline		NC_000002.11:g.26718179C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1243592
2	26726752	rs884390 - 1272256	G/A	Benign	Not Provided Autosomal Recessive Nonsyndromic Hearing Loss 9	SNV	intron_variant	MedGen:CN517202 MONDO MedGen:C1832828 OMIM:601071 Orphanet:90636	OTOF	Germline		NC_000002.11:g.26726752G>A	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1263012
2	26739004	rs4665867 - 1274696	T/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	OTOF	Germline		NC_000002.11:g.26739004C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1265232
2	26739423	rs11687696 - 21847	T/C	Benign	Not Specified Not Provided Autosomal Recessive Nonsyndromic Hearing Loss 9	SNV	synonymous_variant	MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C1832828 OMIM:601071 Orphanet:90636	OTOF	Germline		NC_000002.11:g.26739423T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA142865	11687696	Single Nucleotide Variant	0.29751	0.21267	0.25539	34699
2	26739780	rs11126533 - 1237341	T/T	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	OTOF	Germline		NC_000002.11:g.26739780C>T	Criteria Provided Single Submitter			Single Nucleotide Variant				1226465
2	26741961	rs13031859 - 21836	G/A	Benign	Not Specified Not Provided Autosomal Recessive Nonsyndromic Hearing Loss 9	SNV	missense_variant	MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C1832828 OMIM:601071 Orphanet:90636	OTOF	Germline		NC_000002.11:g.26741961G>A	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA142803 Uniprotkb:Q9HC10#VAR 032227	13031859	Single Nucleotide Variant	0.43498	0.36791	0.26997	34688
2	26781765	rs7556908 - 1253202	G/A	Benign	Not Provided	SNV		MedGen:CN517202	OTOF	Germline		NC_000002.11:g.26781765G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1243145
2	27290525	rs11681145 - 1170054	G/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	AGBL5	Germline		NC_000002.11:g.27290525A>G	Criteria Provided Single Submitter			Single Nucleotide Variant				1154116
2	27315252	rs2304681 - 335482	G/A	Benign	Essential Fructosuria	SNV	missense_variant	MONDO MedGen:C0268160 OMIM:229800 Orphanet:2056	KHK	Germline		NC_000002.11:g.27315252G>A	Criteria Provided Single Submitter	Clingen:CA1569115 Uniprotkb:P50053#VAR 006074	2304681	Single Nucleotide Variant	0.37762	0.35599	0.33147	289183
2	27424636	rs1395 - 1256723	A/G	Benign	Not Provided	SNV	SO:0001583 missense_variantSO:0001619 non-coding_transcript_variant	MedGen:CN517202	SLC5A6	Germline		NC_000002.11:g.27424636G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1247506
2	27532870	rs62130714 - 1184762	A/G	Benign	Not Provided Charcot-Marie-Tooth Disease Axonal Type 2EE Navajo Neurohepatopathy	SNV	intron_variant	MedGen:CN517202 MONDO MedGen:C5193076 OMIM:618400 MONDO MedGen:C1850406 OMIM:256810 Orphanet:255229	MPV17	Germline		NC_000002.11:g.27532870A>G	Criteria Provided Multiple Submitters No Conflicts			Single Nucleotide Variant				1174683
2	27589810	rs2280737 - 95736	C/C	Benign	Not Specified Not Provided Vanishing White Matter Disease	SNV	intron_variant	MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C1858991 OMIM:603896 Orphanet:135 Orphanet:99853	EIF2B4	Germline		NC_000002.11:g.27589810T>C	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA148783	2280737	Single Nucleotide Variant	0.39860	0.41589	0.38339	101633
2	27591804	rs80051818 - 1240466	T/C	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	EIF2B4	Germline		NC_000002.11:g.27591804T>C	Criteria Provided Single Submitter			Single Nucleotide Variant				1231290
2	27592423	rs7602534 - 95738	T/T	Benign	Not Specified Not Provided Vanishing White Matter Disease	SNV	intron_variant	MedGen:CN169374 MedGen:CN517202 MONDO MedGen:C1858991 OMIM:603896 Orphanet:135 Orphanet:99853	EIF2B4	Germline		NC_000002.11:g.27592423C>T	Criteria Provided Multiple Submitters No Conflicts	Clingen:CA148787	7602534	Single Nucleotide Variant	0.39619	0.41581	0.37840	101635
2	27600239	rs13472 - 335549	A/A	Benign/Likely Benign	Retinitis Pigmentosa Retinitis Pigmentosa Dominant	SNV	SO:0001619 non-coding_transcript_variantSO:0001624 3_prime_UTR_variant	Human_Phenotype_Ontology:HP:0000547 MONDO MeSH:D012174 MedGen:C0035334 OMIM:268000 OMIM:PS268000 Orphanet:791 MedGen:CN239354	SNX17	Germline		NC_000002.11:g.27600239G>A	Criteria Provided Single Submitter	Clingen:CA10613075	13472	Single Nucleotide Variant			0.35204	285839
2	27667297	rs4803 - 379412	G/G	Benign	Not Specified	SNV	SO:0001624 3_prime_UTR_variantSO:0001627 intron_variant	MedGen:CN169374	IFT172	Germline		NC_000002.11:g.27667297A>G	Criteria Provided Single Submitter	Clingen:CA1579311	4803	Single Nucleotide Variant	0.44030	0.47909	0.45407	366599
2	27670307	rs11126999 - 1280909	A/A	Benign	Not Provided	SNV	intron_variant	MedGen:CN517202	IFT172	Germline		NC_000002.11:g.27670307G>A	Criteria Provided Single Submitter			Single Nucleotide Variant				1271627

CLINVAR REPORT

This document serves as a demonstration report and is not based on your sample.

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