Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_006892.4(DNMT3B):c.1807G>A (p.Ala603Thr)	SNV Germline	Chr20:32800200	Pathogenic/Likely pathogenic	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency Facioscapulohumeral muscular dystrophy 4, digenic Immunodeficiency-centromeric instability-facial anomalies syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA118467	rs_121908943	4 SubmittersRCV000007132 RCV002512866 RCV005031403
NM_015295.3(SMCHD1):c.2068C>T (p.Pro690Ser)	SNV Germline	Chr18:2707567	Pathogenic	Facioscapulohumeral muscular dystrophy 2	No Assertion Criteria Provided	CA261232	rs_397514623	1 SubmittersRCV000033083
NM_015295.3(SMCHD1):c.4566G>A (p.Thr1522=)	SNV Germline	Chr18:2762236	Pathogenic	Facioscapulohumeral muscular dystrophy 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA502690624	rs_1598416221	3 SubmittersRCV000033086 RCV003137554
NM_015295.3(SMCHD1):c.3444T>A (p.Pro1148=)	SNV Germline	Chr18:2739450	Conflicting classifications of pathogenicity	not specified Condition: not provided Facioscapulohumeral muscular dystrophy 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA242785	rs_76290319	5 SubmittersRCV000253942 RCV000724669 RCV001081303 RCV003258683
NM_015295.3(SMCHD1):c.288C>T (p.Thr96=)	SNV Germline	Chr18:2666895	Conflicting classifications of pathogenicity	not specified Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA8870524	rs_369550628	3 SubmittersRCV000248986 RCV000727120 RCV001088098
NM_015295.3(SMCHD1):c.424+10C>T	SNV Germline	Chr18:2667041	Conflicting classifications of pathogenicity	not specified Facioscapulohumeral muscular dystrophy 2 Condition: not provided SMCHD1-related disorder	Criteria Provided Conflicting Classifications	CA8870540	rs_201631086	5 SubmittersRCV000246732 RCV000509531 RCV000725190 RCV003891952
NM_015295.3(SMCHD1):c.1608A>G (p.Lys536=)	SNV Germline	Chr18:2700879	Conflicting classifications of pathogenicity	not specified Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA8870756	rs_72862973	4 SubmittersRCV000247697 RCV000725463 RCV001079432
NM_015295.3(SMCHD1):c.1957-3C>T	SNV Germline	Chr18:2706361	Conflicting classifications of pathogenicity	not specified Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA8870852	rs_201069969	6 SubmittersRCV000243542 RCV000725674 RCV001088378
NM_015295.3(SMCHD1):c.5126C>T (p.Ser1709Leu)	SNV Germline	Chr18:2772323	Conflicting classifications of pathogenicity	not specified Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA8871665	rs_151311806	3 SubmittersRCV000251991 RCV000726283 RCV001854965
NM_015295.3(SMCHD1):c.5878+8T>G	SNV Germline	Chr18:2796115	Conflicting classifications of pathogenicity	not specified Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA8871800	rs_144115061	4 SubmittersRCV000252296 RCV000724994 RCV001084843
NM_015295.3(SMCHD1):c.1030C>T (p.Arg344Ter)	SNV Germline	Chr18:2694683	Pathogenic	Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Multiple Submitters No Conflicts	CA10603333	rs_886041918	3 SubmittersRCV000392001 RCV000791844
NM_015295.3(SMCHD1):c.150C>G (p.Arg50=)	SNV Germline	Chr18:2656225	Conflicting classifications of pathogenicity	Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA8870467	rs_139872818	2 SubmittersRCV000385524 RCV001078703
NM_015295.3(SMCHD1):c.3634-1G>C	SNV Germline	Chr18:2743760	Conflicting classifications of pathogenicity	Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA10604029	rs_886042282	2 SubmittersRCV000326492 RCV005090338
NM_015295.3(SMCHD1):c.5958T>A (p.Pro1986=)	SNV Germline	Chr18:2796486	Conflicting classifications of pathogenicity	Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA10604139	rs_886042374	2 SubmittersRCV000308073 RCV002059103
NM_015295.3(SMCHD1):c.3633+7C>T	SNV Germline	Chr18:2740828	Conflicting classifications of pathogenicity	Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA8871252	rs_200391083	2 SubmittersRCV000379349 RCV002059107
NM_015295.3(SMCHD1):c.306G>A (p.Ser102=)	SNV Germline	Chr18:2666913	Conflicting classifications of pathogenicity	Condition: not provided not specified Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA8870526	rs_7229488	4 SubmittersRCV000294460 RCV001289227 RCV002059108
NM_015295.3(SMCHD1):c.5937G>A (p.Thr1979=)	SNV Germline	Chr18:2796465	Conflicting classifications of pathogenicity	Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA8871823	rs_776794549	2 SubmittersRCV000315570 RCV001401060
NM_015295.3(SMCHD1):c.3801+1G>A	SNV Germline	Chr18:2743929	Pathogenic	Facioscapulohumeral muscular dystrophy 2 Condition: not provided	Criteria Provided Single Submitter	CA10604207	rs_886042417	2 SubmittersRCV000033085 RCV000356100
NM_015295.3(SMCHD1):c.985C>A (p.Pro329Thr)	SNV Germline	Chr18:2694638	Conflicting classifications of pathogenicity	Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA8870666	rs_145233420	2 SubmittersRCV000306911 RCV001407288
NM_015295.3(SMCHD1):c.789C>T (p.His263=)	SNV Germline	Chr18:2688663	Conflicting classifications of pathogenicity	Condition: not provided Facioscapulohumeral muscular dystrophy 2 SMCHD1-related disorder	Criteria Provided Conflicting Classifications	CA8870641	rs_374899324	3 SubmittersRCV000291817 RCV001079065 RCV003957434
NM_015295.3(SMCHD1):c.279T>G (p.Asp93Glu)	SNV Germline	Chr18:2666886	Conflicting classifications of pathogenicity	Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA8870521	rs_201466122	2 SubmittersRCV000263109 RCV001089036
NM_015295.3(SMCHD1):c.1290T>C (p.His430=)	SNV Germline	Chr18:2697989	Conflicting classifications of pathogenicity	Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA8870718	rs_376328601	2 SubmittersRCV000403970 RCV001083675
NM_015295.3(SMCHD1):c.2152T>C (p.Leu718=)	SNV Germline	Chr18:2707812	Conflicting classifications of pathogenicity	Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA8870912	rs_112500113	2 SubmittersRCV000306893 RCV001088679
NM_015295.3(SMCHD1):c.5024A>G (p.His1675Arg)	SNV Germline	Chr18:2771590	Conflicting classifications of pathogenicity	Condition: not provided Facioscapulohumeral muscular dystrophy 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8871640	rs_201071071	4 SubmittersRCV000275554 RCV001342182 RCV003278737
NM_015295.3(SMCHD1):c.2914-8T>C	SNV Germline	Chr18:2729267	Conflicting classifications of pathogenicity	Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA10605102	rs_886043095	2 SubmittersRCV000309380 RCV002055060
NM_015295.3(SMCHD1):c.1164G>A (p.Lys388=)	SNV Germline	Chr18:2697863	Conflicting classifications of pathogenicity	Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA8870703	rs_778279069	2 SubmittersRCV000294233 RCV001478141
NM_015295.3(SMCHD1):c.3277-5C>T	SNV Germline	Chr18:2738392	Conflicting classifications of pathogenicity	Condition: not provided Facioscapulohumeral muscular dystrophy 2 SMCHD1-related disorder	Criteria Provided Conflicting Classifications	CA8871170	rs_542259388	3 SubmittersRCV000352332 RCV001089314 RCV003967747
NM_015295.3(SMCHD1):c.3381A>G (p.Ser1127=)	SNV Germline	Chr18:2738501	Conflicting classifications of pathogenicity	Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA10605226	rs_747331582	2 SubmittersRCV000405504 RCV003650568
NM_015295.3(SMCHD1):c.4320C>T (p.Asp1440=)	SNV Germline	Chr18:2752526	Conflicting classifications of pathogenicity	Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA8871446	rs_374154803	2 SubmittersRCV000378735 RCV001087531
NM_015295.3(SMCHD1):c.3209T>C (p.Ile1070Thr)	SNV Germline	Chr18:2732425	Conflicting classifications of pathogenicity	not specified Condition: not provided Scapulohumeral muscular dystrophy Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA8871151	rs_113434340	7 SubmittersRCV000321018 RCV000725767 RCV000850315 RCV001859637
NM_015295.3(SMCHD1):c.1905C>T (p.Gly635=)	SNV Germline	Chr18:2705756	Conflicting classifications of pathogenicity	Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA8870828	rs_770290837	2 SubmittersRCV000403687 RCV001855175
NM_015295.3(SMCHD1):c.5478A>G (p.Val1826=)	SNV Germline	Chr18:2778170	Conflicting classifications of pathogenicity	Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA10605551	rs_886043464	2 SubmittersRCV000366096 RCV001431387
NM_015295.3(SMCHD1):c.3636A>G (p.Glu1212=)	SNV Germline	Chr18:2743763	Conflicting classifications of pathogenicity	Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA8871271	rs_372008124	2 SubmittersRCV000364487 RCV001463457
NM_015295.3(SMCHD1):c.5046A>G (p.Thr1682=)	SNV Germline	Chr18:2771612	Conflicting classifications of pathogenicity	Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA10605943	rs_886043784	2 SubmittersRCV000317964 RCV002059231
NM_015295.3(SMCHD1):c.63A>G (p.Gly21=)	SNV Germline	Chr18:2656138	Conflicting classifications of pathogenicity	Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA8870452	rs_772718353	2 SubmittersRCV000356427 RCV003535684
NM_015295.3(SMCHD1):c.3868G>T (p.Asp1290Tyr)	SNV Germline	Chr18:2747588	Conflicting classifications of pathogenicity	Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA8871326	rs_146798599	2 SubmittersRCV000361618 RCV001434919
NM_015295.3(SMCHD1):c.162G>T (p.Ala54=)	SNV Germline	Chr18:2656237	Conflicting classifications of pathogenicity	Condition: not provided Facioscapulohumeral muscular dystrophy 2 SMCHD1-related disorder	Criteria Provided Conflicting Classifications	CA8870471	rs_766395572	3 SubmittersRCV000350229 RCV002059246 RCV003897638
NM_015295.3(SMCHD1):c.3606T>C (p.Asp1202=)	SNV Germline	Chr18:2740794	Conflicting classifications of pathogenicity	Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA8871249	rs_539377223	2 SubmittersRCV000330057 RCV001859688
NM_015295.3(SMCHD1):c.3514+7A>G	SNV Germline	Chr18:2739527	Conflicting classifications of pathogenicity	Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA10606324	rs_886044081	2 SubmittersRCV000263327 RCV002518068
NM_015295.3(SMCHD1):c.4827A>G (p.Leu1609=)	SNV Germline	Chr18:2769801	Conflicting classifications of pathogenicity	Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA8871578	rs_774077792	2 SubmittersRCV000276739 RCV001406858
NM_015295.3(SMCHD1):c.5625C>T (p.Gly1875=)	SNV Germline	Chr18:2784527	Conflicting classifications of pathogenicity	Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA10606717	rs_886044408	2 SubmittersRCV000320683 RCV002059283
NM_015295.3(SMCHD1):c.5787A>G (p.Gln1929=)	SNV Germline	Chr18:2796016	Conflicting classifications of pathogenicity	Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA8871793	rs_369084979	2 SubmittersRCV000405877 RCV002518131
NM_015295.3(SMCHD1):c.3633+10C>T	SNV Germline	Chr18:2740831	Conflicting classifications of pathogenicity	Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA8871254	rs_368857612	2 SubmittersRCV000357467 RCV001413532
NM_015295.3(SMCHD1):c.319C>T (p.Leu107=)	SNV Germline	Chr18:2666926	Conflicting classifications of pathogenicity	Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA10606840	rs_769766392	2 SubmittersRCV000293635 RCV002059296
NM_015295.3(SMCHD1):c.1191C>T (p.Asp397=)	SNV Germline	Chr18:2697890	Conflicting classifications of pathogenicity	Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA8870711	rs_535674229	2 SubmittersRCV000405521 RCV002059306
NM_006892.4(DNMT3B):c.1219G>A (p.Gly407Ser)	SNV Germline	Chr20:32795501	Conflicting classifications of pathogenicity	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 Inborn genetic diseases Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency Immunodeficiency-centromeric instability-facial anomalies syndrome 1 Facioscapulohumeral muscular dystrophy 4, digenic Condition: not provided	Criteria Provided Conflicting Classifications	CA9810467	rs_148646143	5 SubmittersRCV000282009 RCV002523156 RCV001049943 RCV004725178 RCV004694598
NM_015295.3(SMCHD1):c.408A>C (p.Glu136Asp)	SNV Germline	Chr18:2667015	Conflicting classifications of pathogenicity	Arrhinia with choanal atresia and microphthalmia syndrome Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA16602279	rs_1057519643	4 SubmittersRCV000417233 RCV000497012
NM_015295.3(SMCHD1):c.410G>A (p.Gly137Glu)	SNV Germline	Chr18:2667017	Pathogenic	Arrhinia with choanal atresia and microphthalmia syndrome Facioscapulohumeral muscular dystrophy 2	No Assertion Criteria Provided	CA16602280	rs_1057519644	2 SubmittersRCV000417296 RCV000417337
NM_006892.4(DNMT3B):c.886G>A (p.Val296Ile)	SNV Germline	Chr20:32791673	Conflicting classifications of pathogenicity	Condition: not provided Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency Immunodeficiency-centromeric instability-facial anomalies syndrome 1 Immunodeficiency-centromeric instability-facial anomalies syndrome 1 Facioscapulohumeral muscular dystrophy 4, digenic	Criteria Provided Conflicting Classifications	CA9810330	rs_145632647	5 SubmittersRCV000483268 RCV001088271 RCV001138232 RCV005027559
NM_015295.3(SMCHD1):c.4108C>T (p.Arg1370Cys)	SNV Germline	Chr18:2750450	Conflicting classifications of pathogenicity	Facioscapulohumeral muscular dystrophy 2 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA295479500	rs_942559171	3 SubmittersRCV000639706 RCV000517186 RCV003139714
NM_015295.3(SMCHD1):c.1040+1G>A	SNV Germline	Chr18:2694694	Pathogenic	Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Multiple Submitters No Conflicts	CA401695240	rs_1245372794	2 SubmittersRCV003156250 RCV000559900
NM_015295.3(SMCHD1):c.925C>G (p.Leu309Val)	SNV Germline	Chr18:2694578	Conflicting classifications of pathogenicity	Facioscapulohumeral muscular dystrophy 2 not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8870660	rs_569470518	3 SubmittersRCV001454163 RCV000595520 RCV004024703
NM_015295.3(SMCHD1):c.2289G>A (p.Ser763=)	SNV Germline	Chr18:2718186	Conflicting classifications of pathogenicity	Facioscapulohumeral muscular dystrophy 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA8870942	rs_58683258	2 SubmittersRCV001443023 RCV000598097
NM_015295.3(SMCHD1):c.5253T>C (p.Cys1751=)	SNV Germline	Chr18:2775811	Conflicting classifications of pathogenicity	Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA502673571	rs_1172138387	2 SubmittersRCV000595788 RCV001504141
NM_015295.3(SMCHD1):c.2151G>A (p.Ala717=)	SNV Germline	Chr18:2707811	Conflicting classifications of pathogenicity	Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA8870911	rs_372945746	3 SubmittersRCV000596302 RCV001087067
NM_015295.3(SMCHD1):c.2838T>C (p.Ala946=)	SNV Germline	Chr18:2728521	Conflicting classifications of pathogenicity	Condition: not provided Facioscapulohumeral muscular dystrophy 2 SMCHD1-related disorder	Criteria Provided Conflicting Classifications	CA8871073	rs_375251871	4 SubmittersRCV000597933 RCV001088158 RCV003935598
NM_015295.3(SMCHD1):c.1479T>C (p.Thr493=)	SNV Germline	Chr18:2700750	Conflicting classifications of pathogenicity	Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA8870746	rs_755868793	2 SubmittersRCV000595487 RCV001479983
NM_015295.3(SMCHD1):c.2577T>C (p.Thr859=)	SNV Germline	Chr18:2722637	Conflicting classifications of pathogenicity	Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA502676962	rs_1408054045	2 SubmittersRCV000596289 RCV003653221
NM_015295.3(SMCHD1):c.3891T>C (p.His1297=)	SNV Germline	Chr18:2747611	Conflicting classifications of pathogenicity	Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA8871332	rs_758075470	2 SubmittersRCV000598210 RCV002062053
NM_015295.3(SMCHD1):c.90G>A (p.Leu30=)	SNV Germline	Chr18:2656165	Conflicting classifications of pathogenicity	Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA502670569	rs_1555622278	2 SubmittersRCV000594998 RCV002532477
NM_015295.3(SMCHD1):c.3414G>A (p.Ala1138=)	SNV Germline	Chr18:2738534	Conflicting classifications of pathogenicity	Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA8871187	rs_778892054	2 SubmittersRCV000597408 RCV001483319
NM_015295.3(SMCHD1):c.2025G>A (p.Glu675=)	SNV Germline	Chr18:2706432	Conflicting classifications of pathogenicity	Condition: not provided Facioscapulohumeral muscular dystrophy 2 SMCHD1-related disorder	Criteria Provided Conflicting Classifications	CA8870859	rs_766575963	3 SubmittersRCV000592431 RCV002065180 RCV003905556
NM_015295.3(SMCHD1):c.3484C>T (p.Gln1162Ter)	SNV Germline	Chr18:2739490	Pathogenic	Facioscapulohumeral muscular dystrophy 2	Criteria Provided Single Submitter	CA401687929	rs_1555644339	1 SubmittersRCV000639711
NM_015295.3(SMCHD1):c.4719+1G>T	SNV Germline	Chr18:2763790	Likely pathogenic	Facioscapulohumeral muscular dystrophy 2	Criteria Provided Single Submitter	CA401697665	rs_886044369	1 SubmittersRCV000639707
NM_006892.4(DNMT3B):c.608C>T (p.Pro203Leu)	SNV Germline	Chr20:32787405	Conflicting classifications of pathogenicity	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency Immunodeficiency-centromeric instability-facial anomalies syndrome 1 not specified Facioscapulohumeral muscular dystrophy 4, digenic Immunodeficiency-centromeric instability-facial anomalies syndrome 1 DNMT3B-related disorder	Criteria Provided Conflicting Classifications	CA9810268	rs_147945634	4 SubmittersRCV000636690 RCV001280986 RCV001816578 RCV003224358 RCV003928070
NM_015295.3(SMCHD1):c.744A>G (p.Gln248=)	SNV Germline	Chr18:2688499	Conflicting classifications of pathogenicity	Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA8870612	rs_746148722	2 SubmittersRCV000727961 RCV001303555
NM_015295.3(SMCHD1):c.4638G>A (p.Glu1546=)	SNV Germline	Chr18:2763708	Conflicting classifications of pathogenicity	Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA502690722	rs_1568336400	2 SubmittersRCV000728006 RCV005056482
NM_015295.3(SMCHD1):c.162G>A (p.Ala54=)	SNV Germline	Chr18:2656237	Conflicting classifications of pathogenicity	Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA8870470	rs_766395572	2 SubmittersRCV000728344 RCV000801386
NM_015295.3(SMCHD1):c.4461A>G (p.Gln1487=)	SNV Germline	Chr18:2762131	Conflicting classifications of pathogenicity	Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA8871493	rs_763699437	3 SubmittersRCV000729503 RCV001862173
NM_015295.3(SMCHD1):c.954C>T (p.Ser318=)	SNV Germline	Chr18:2694607	Conflicting classifications of pathogenicity	Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA8870665	rs_769558309	2 SubmittersRCV000729866 RCV002060983
NM_015295.3(SMCHD1):c.2604-7T>C	SNV Germline	Chr18:2724892	Conflicting classifications of pathogenicity	Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA8871020	rs_751707679	2 SubmittersRCV000730308 RCV002535149
NM_015295.3(SMCHD1):c.1186C>T (p.Gln396Ter)	SNV Germline	Chr18:2697885	Pathogenic	Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Multiple Submitters No Conflicts	CA401697129	rs_377471712	3 SubmittersRCV000731133 RCV002535190
NM_015295.3(SMCHD1):c.5127G>T (p.Ser1709=)	SNV Germline	Chr18:2772324	Conflicting classifications of pathogenicity	Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA502672892	rs_371834462	2 SubmittersRCV000731981 RCV001078602
NM_015295.3(SMCHD1):c.5526G>A (p.Ala1842=)	SNV Germline	Chr18:2778218	Conflicting classifications of pathogenicity	Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA8871736	rs_760266416	2 SubmittersRCV000732611 RCV002535284
NM_015295.3(SMCHD1):c.2064-9T>C	SNV Germline	Chr18:2707554	Conflicting classifications of pathogenicity	Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA8870881	rs_376058538	2 SubmittersRCV000733403 RCV002067151
NM_015295.3(SMCHD1):c.2701-8T>C	SNV Germline	Chr18:2726444	Conflicting classifications of pathogenicity	Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA628044075	rs_1324600079	2 SubmittersRCV000734302 RCV001397137
NM_015295.3(SMCHD1):c.4161C>T (p.Phe1387=)	SNV Germline	Chr18:2750503	Conflicting classifications of pathogenicity	Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA8871393	rs_553970445	2 SubmittersRCV000734756 RCV003534751
NM_006892.4(DNMT3B):c.1490+8C>G	SNV Germline	Chr20:32797307	Conflicting classifications of pathogenicity	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 Immunodeficiency-centromeric instability-facial anomalies syndrome 1 Facioscapulohumeral muscular dystrophy 4, digenic Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	Criteria Provided Conflicting Classifications	CA9810602	rs_746731138	2 SubmittersRCV000768198 RCV003224439 RCV003758924
NM_015295.3(SMCHD1):c.3716G>A (p.Arg1239His)	SNV Germline	Chr18:2743843	Conflicting classifications of pathogenicity	Facioscapulohumeral muscular dystrophy 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8871284	rs_750301200	2 SubmittersRCV001037476 RCV005492918
NM_015295.3(SMCHD1):c.1654C>T (p.Arg552Ter)	SNV Germline	Chr18:2703698	Pathogenic	Facioscapulohumeral muscular dystrophy 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA401678023	rs_1224850132	2 SubmittersRCV001212601 RCV001780128
NM_015295.3(SMCHD1):c.87C>A (p.Tyr29Ter)	SNV Germline	Chr18:2656162	Pathogenic	Facioscapulohumeral muscular dystrophy 2	Criteria Provided Single Submitter	CA401684911	rs_2073049380	1 SubmittersRCV001227734
NM_015295.3(SMCHD1):c.3469G>T (p.Gly1157Ter)	SNV Germline	Chr18:2739475	Pathogenic	Facioscapulohumeral muscular dystrophy 2	No Assertion Criteria Provided	CA401687866	rs_2075308386	1 SubmittersRCV001310239
NM_015295.3(SMCHD1):c.340C>T (p.Arg114Ter)	SNV Germline	Chr18:2666947	Pathogenic	Facioscapulohumeral muscular dystrophy 2	Criteria Provided Single Submitter	CA401687927	rs_2143805963	1 SubmittersRCV001385548
NM_015295.3(SMCHD1):c.3323T>C (p.Leu1108Pro)	SNV Germline	Chr18:2738443	Likely pathogenic	Facioscapulohumeral muscular dystrophy 2	No Assertion Criteria Provided	CA401686914	rs_2143530610	1 SubmittersRCV001542794
NM_006892.4(DNMT3B):c.1579T>C (p.Cys527Arg)	SNV Germline	Chr20:32798548	Pathogenic	Facioscapulohumeral muscular dystrophy 4, digenic	No Assertion Criteria Provided	CA408587078	rs_2146029958	1 SubmittersRCV001568341
NM_015295.3(SMCHD1):c.2008G>T (p.Asp670Tyr)	SNV Unknown	Chr18:2706415	Likely pathogenic	Facioscapulohumeral muscular dystrophy 2	Criteria Provided Single Submitter	CA401679849	rs_2143241656	1 SubmittersRCV001730113
NM_015295.3(SMCHD1):c.5383C>T (p.Arg1795Ter)	SNV Germline	Chr18:2777822	Pathogenic	Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Multiple Submitters No Conflicts	CA295488287	rs_867694014	2 SubmittersRCV001784999 RCV003653493
NM_015295.3(SMCHD1):c.3736C>T (p.Arg1246Ter)	SNV Germline	Chr18:2743863	Pathogenic	Facioscapulohumeral muscular dystrophy 2	Criteria Provided Single Submitter	CA401689619	rs_924153704	1 SubmittersRCV002007289
NM_015295.3(SMCHD1):c.1647+3A>G	SNV Germline	Chr18:2700921	Pathogenic	Facioscapulohumeral muscular dystrophy 2	Criteria Provided Single Submitter	CA2573155051	rs_2143184995	1 SubmittersRCV001927967
NM_015295.3(SMCHD1):c.2732T>G (p.Leu911Ter)	SNV Germline	Chr18:2726483	Pathogenic	Facioscapulohumeral muscular dystrophy 2	Criteria Provided Single Submitter	CA401682507	rs_2143438994	1 SubmittersRCV001970062
NM_015295.3(SMCHD1):c.1396A>T (p.Arg466Ter)	SNV Germline	Chr18:2700592	Pathogenic	Facioscapulohumeral muscular dystrophy 2	Criteria Provided Single Submitter	CA401699021	rs_2143182200	1 SubmittersRCV001972732
NM_015295.3(SMCHD1):c.1463+10A>G	SNV Germline	Chr18:2700669	Conflicting classifications of pathogenicity	Facioscapulohumeral muscular dystrophy 2 See cases	Criteria Provided Conflicting Classifications	CA2280682481	rs_2074381441	2 SubmittersRCV003094108 RCV002252869
NM_015295.3(SMCHD1):c.3099T>C (p.Ser1033=)	SNV Germline	Chr18:2732315	Conflicting classifications of pathogenicity	Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA8871135	rs_769850705	2 SubmittersRCV002474461 RCV005098469
NM_015295.3(SMCHD1):c.2688T>G (p.Ser896=)	SNV Germline	Chr18:2724983	Conflicting classifications of pathogenicity	Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Conflicting Classifications	CA502678634	rs_2074997790	2 SubmittersRCV002474462 RCV002571529
NM_015295.3(SMCHD1):c.5801G>A (p.Arg1934His)	SNV Germline	Chr18:2796030	Conflicting classifications of pathogenicity	Facioscapulohumeral muscular dystrophy 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8871795	rs_779941077	2 SubmittersRCV003068787 RCV003081117
NM_015295.3(SMCHD1):c.3247A>G (p.Ile1083Val)	SNV Germline	Chr18:2732463	Conflicting classifications of pathogenicity	Facioscapulohumeral muscular dystrophy 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA8871154	rs_199901577	2 SubmittersRCV003110851 RCV003420545
NM_015295.3(SMCHD1):c.3019C>T (p.Gln1007Ter)	SNV Germline	Chr18:2729380	Pathogenic	Facioscapulohumeral muscular dystrophy 2	Criteria Provided Single Submitter	CA401684290	rs_2510085323	1 SubmittersRCV002706025
NM_015295.3(SMCHD1):c.3786G>A (p.Trp1262Ter)	SNV Germline	Chr18:2743913	Pathogenic	Facioscapulohumeral muscular dystrophy 2	Criteria Provided Single Submitter	CA401689764	rs_2510110251	1 SubmittersRCV002932869
NM_015295.3(SMCHD1):c.3938C>G (p.Ser1313Ter)	SNV Germline	Chr18:2750053	Pathogenic/Likely pathogenic	Condition: not provided Facioscapulohumeral muscular dystrophy 2	Criteria Provided Multiple Submitters No Conflicts	CA401691385	rs_1345926097	2 SubmittersRCV003134163 RCV003649427
NM_015295.3(SMCHD1):c.2656C>T (p.Arg886Ter)	SNV Germline	Chr18:2724951	Pathogenic/Likely pathogenic	Facioscapulohumeral muscular dystrophy 2 Male infertility with azoospermia or oligozoospermia due to single gene mutation	Criteria Provided Multiple Submitters No Conflicts	CA401682148	rs_201632358	2 SubmittersRCV003535031 RCV003991628
NM_015295.3(SMCHD1):c.262+1G>A	SNV Germline	Chr18:2666233	Likely pathogenic	Facioscapulohumeral muscular dystrophy 2	Criteria Provided Single Submitter	CA401687484	rs_2510097246	1 SubmittersRCV003649711
NM_015295.3(SMCHD1):c.1647+1G>T	SNV Germline	Chr18:2700919	Likely pathogenic	Facioscapulohumeral muscular dystrophy 2	Criteria Provided Single Submitter	CA401700437	rs_2510028167	1 SubmittersRCV003650894
NM_006892.4(DNMT3B):c.2162T>C (p.Ile721Thr)	SNV Germline	Chr20:32802401	Conflicting classifications of pathogenicity	not specified Facioscapulohumeral muscular dystrophy 4, digenic Immunodeficiency-centromeric instability-facial anomalies syndrome 1	Criteria Provided Conflicting Classifications			2 SubmittersRCV004690955 RCV005023636
NM_015295.3(SMCHD1):c.1240A>T (p.Lys414Ter)	SNV Germline	Chr18:2697939	Pathogenic	Facioscapulohumeral muscular dystrophy 2	Criteria Provided Single Submitter			1 SubmittersRCV005130151
NM_015295.3(SMCHD1):c.3277-2A>G	SNV Germline	Chr18:2738395	Likely pathogenic	Facioscapulohumeral muscular dystrophy 2	Criteria Provided Single Submitter			1 SubmittersRCV005138034
NM_015295.3(SMCHD1):c.4282-2A>G	SNV Germline	Chr18:2752486	Likely pathogenic	Facioscapulohumeral muscular dystrophy 2	Criteria Provided Single Submitter			1 SubmittersRCV005138225
NM_015295.3(SMCHD1):c.4966+1G>C	SNV Germline	Chr18:2770109	Likely pathogenic	Facioscapulohumeral muscular dystrophy 2	Criteria Provided Single Submitter			1 SubmittersRCV005137471
NM_015295.3(SMCHD1):c.2260+5G>A	SNV Germline	Chr18:2707925	Pathogenic	Facioscapulohumeral muscular dystrophy 2	Criteria Provided Single Submitter			1 SubmittersRCV005179319
NM_015295.3(SMCHD1):c.1788G>A (p.Trp596Ter)	SNV Germline	Chr18:2703832	Pathogenic	Facioscapulohumeral muscular dystrophy 2	Criteria Provided Single Submitter			1 SubmittersRCV005193555

NM_006892.4(DNMT3B):c.1807G>A (p.Ala603Thr)

SNV
Germline

Chr20:32800200

Pathogenic/Likely pathogenic

Immunodeficiency-centromeric instability-facial anomalies syndrome 1
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
Facioscapulohumeral muscular dystrophy 4, digenic
Immunodeficiency-centromeric instability-facial anomalies syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA118467

rs_121908943

4 SubmittersRCV000007132 RCV002512866 RCV005031403

NM_015295.3(SMCHD1):c.2068C>T (p.Pro690Ser)

SNV
Germline

Chr18:2707567

Pathogenic

Facioscapulohumeral muscular dystrophy 2

No Assertion Criteria Provided

CA261232

rs_397514623

1 SubmittersRCV000033083

NM_015295.3(SMCHD1):c.4566G>A (p.Thr1522=)

SNV
Germline

Chr18:2762236

Pathogenic

Facioscapulohumeral muscular dystrophy 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA502690624

rs_1598416221

3 SubmittersRCV000033086 RCV003137554

NM_015295.3(SMCHD1):c.3444T>A (p.Pro1148=)

SNV
Germline

Chr18:2739450

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA242785

rs_76290319

5 SubmittersRCV000253942 RCV000724669 RCV001081303 RCV003258683

NM_015295.3(SMCHD1):c.288C>T (p.Thr96=)

SNV
Germline

Chr18:2666895

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA8870524

rs_369550628

3 SubmittersRCV000248986 RCV000727120 RCV001088098

NM_015295.3(SMCHD1):c.424+10C>T

SNV
Germline

Chr18:2667041

Conflicting classifications of pathogenicity

not specified
Facioscapulohumeral muscular dystrophy 2
Condition: not provided
SMCHD1-related disorder

Criteria Provided
Conflicting Classifications

CA8870540

rs_201631086

5 SubmittersRCV000246732 RCV000509531 RCV000725190 RCV003891952

NM_015295.3(SMCHD1):c.1608A>G (p.Lys536=)

SNV
Germline

Chr18:2700879

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA8870756

rs_72862973

4 SubmittersRCV000247697 RCV000725463 RCV001079432

NM_015295.3(SMCHD1):c.1957-3C>T

SNV
Germline

Chr18:2706361

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA8870852

rs_201069969

6 SubmittersRCV000243542 RCV000725674 RCV001088378

NM_015295.3(SMCHD1):c.5126C>T (p.Ser1709Leu)

SNV
Germline

Chr18:2772323

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA8871665

rs_151311806

3 SubmittersRCV000251991 RCV000726283 RCV001854965

NM_015295.3(SMCHD1):c.5878+8T>G

SNV
Germline

Chr18:2796115

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA8871800

rs_144115061

4 SubmittersRCV000252296 RCV000724994 RCV001084843

NM_015295.3(SMCHD1):c.1030C>T (p.Arg344Ter)

SNV
Germline

Chr18:2694683

Pathogenic

Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA10603333

rs_886041918

3 SubmittersRCV000392001 RCV000791844

NM_015295.3(SMCHD1):c.150C>G (p.Arg50=)

SNV
Germline

Chr18:2656225

Conflicting classifications of pathogenicity

Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA8870467

rs_139872818

2 SubmittersRCV000385524 RCV001078703

NM_015295.3(SMCHD1):c.3634-1G>C

SNV
Germline

Chr18:2743760

Conflicting classifications of pathogenicity

Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA10604029

rs_886042282

2 SubmittersRCV000326492 RCV005090338

NM_015295.3(SMCHD1):c.5958T>A (p.Pro1986=)

SNV
Germline

Chr18:2796486

Conflicting classifications of pathogenicity

Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA10604139

rs_886042374

2 SubmittersRCV000308073 RCV002059103

NM_015295.3(SMCHD1):c.3633+7C>T

SNV
Germline

Chr18:2740828

Conflicting classifications of pathogenicity

Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA8871252

rs_200391083

2 SubmittersRCV000379349 RCV002059107

NM_015295.3(SMCHD1):c.306G>A (p.Ser102=)

SNV
Germline

Chr18:2666913

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA8870526

rs_7229488

4 SubmittersRCV000294460 RCV001289227 RCV002059108

NM_015295.3(SMCHD1):c.5937G>A (p.Thr1979=)

SNV
Germline

Chr18:2796465

Conflicting classifications of pathogenicity

Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA8871823

rs_776794549

2 SubmittersRCV000315570 RCV001401060

NM_015295.3(SMCHD1):c.3801+1G>A

SNV
Germline

Chr18:2743929

Pathogenic

Facioscapulohumeral muscular dystrophy 2
Condition: not provided

Criteria Provided
Single Submitter

CA10604207

rs_886042417

2 SubmittersRCV000033085 RCV000356100

NM_015295.3(SMCHD1):c.985C>A (p.Pro329Thr)

SNV
Germline

Chr18:2694638

Conflicting classifications of pathogenicity

Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA8870666

rs_145233420

2 SubmittersRCV000306911 RCV001407288

NM_015295.3(SMCHD1):c.789C>T (p.His263=)

SNV
Germline

Chr18:2688663

Conflicting classifications of pathogenicity

Condition: not provided
Facioscapulohumeral muscular dystrophy 2
SMCHD1-related disorder

Criteria Provided
Conflicting Classifications

CA8870641

rs_374899324

3 SubmittersRCV000291817 RCV001079065 RCV003957434

NM_015295.3(SMCHD1):c.279T>G (p.Asp93Glu)

SNV
Germline

Chr18:2666886

Conflicting classifications of pathogenicity

Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA8870521

rs_201466122

2 SubmittersRCV000263109 RCV001089036

NM_015295.3(SMCHD1):c.1290T>C (p.His430=)

SNV
Germline

Chr18:2697989

Conflicting classifications of pathogenicity

Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA8870718

rs_376328601

2 SubmittersRCV000403970 RCV001083675

NM_015295.3(SMCHD1):c.2152T>C (p.Leu718=)

SNV
Germline

Chr18:2707812

Conflicting classifications of pathogenicity

Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA8870912

rs_112500113

2 SubmittersRCV000306893 RCV001088679

NM_015295.3(SMCHD1):c.5024A>G (p.His1675Arg)

SNV
Germline

Chr18:2771590

Conflicting classifications of pathogenicity

Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8871640

rs_201071071

4 SubmittersRCV000275554 RCV001342182 RCV003278737

NM_015295.3(SMCHD1):c.2914-8T>C

SNV
Germline

Chr18:2729267

Conflicting classifications of pathogenicity

Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA10605102

rs_886043095

2 SubmittersRCV000309380 RCV002055060

NM_015295.3(SMCHD1):c.1164G>A (p.Lys388=)

SNV
Germline

Chr18:2697863

Conflicting classifications of pathogenicity

Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA8870703

rs_778279069

2 SubmittersRCV000294233 RCV001478141

NM_015295.3(SMCHD1):c.3277-5C>T

SNV
Germline

Chr18:2738392

Conflicting classifications of pathogenicity

Condition: not provided
Facioscapulohumeral muscular dystrophy 2
SMCHD1-related disorder

Criteria Provided
Conflicting Classifications

CA8871170

rs_542259388

3 SubmittersRCV000352332 RCV001089314 RCV003967747

NM_015295.3(SMCHD1):c.3381A>G (p.Ser1127=)

SNV
Germline

Chr18:2738501

Conflicting classifications of pathogenicity

Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA10605226

rs_747331582

2 SubmittersRCV000405504 RCV003650568

NM_015295.3(SMCHD1):c.4320C>T (p.Asp1440=)

SNV
Germline

Chr18:2752526

Conflicting classifications of pathogenicity

Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA8871446

rs_374154803

2 SubmittersRCV000378735 RCV001087531

NM_015295.3(SMCHD1):c.3209T>C (p.Ile1070Thr)

SNV
Germline

Chr18:2732425

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Scapulohumeral muscular dystrophy
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA8871151

rs_113434340

7 SubmittersRCV000321018 RCV000725767 RCV000850315 RCV001859637

NM_015295.3(SMCHD1):c.1905C>T (p.Gly635=)

SNV
Germline

Chr18:2705756

Conflicting classifications of pathogenicity

Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA8870828

rs_770290837

2 SubmittersRCV000403687 RCV001855175

NM_015295.3(SMCHD1):c.5478A>G (p.Val1826=)

SNV
Germline

Chr18:2778170

Conflicting classifications of pathogenicity

Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA10605551

rs_886043464

2 SubmittersRCV000366096 RCV001431387

NM_015295.3(SMCHD1):c.3636A>G (p.Glu1212=)

SNV
Germline

Chr18:2743763

Conflicting classifications of pathogenicity

Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA8871271

rs_372008124

2 SubmittersRCV000364487 RCV001463457

NM_015295.3(SMCHD1):c.5046A>G (p.Thr1682=)

SNV
Germline

Chr18:2771612

Conflicting classifications of pathogenicity

Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA10605943

rs_886043784

2 SubmittersRCV000317964 RCV002059231

NM_015295.3(SMCHD1):c.63A>G (p.Gly21=)

SNV
Germline

Chr18:2656138

Conflicting classifications of pathogenicity

Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA8870452

rs_772718353

2 SubmittersRCV000356427 RCV003535684

NM_015295.3(SMCHD1):c.3868G>T (p.Asp1290Tyr)

SNV
Germline

Chr18:2747588

Conflicting classifications of pathogenicity

Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA8871326

rs_146798599

2 SubmittersRCV000361618 RCV001434919

NM_015295.3(SMCHD1):c.162G>T (p.Ala54=)

SNV
Germline

Chr18:2656237

Conflicting classifications of pathogenicity

Condition: not provided
Facioscapulohumeral muscular dystrophy 2
SMCHD1-related disorder

Criteria Provided
Conflicting Classifications

CA8870471

rs_766395572

3 SubmittersRCV000350229 RCV002059246 RCV003897638

NM_015295.3(SMCHD1):c.3606T>C (p.Asp1202=)

SNV
Germline

Chr18:2740794

Conflicting classifications of pathogenicity

Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA8871249

rs_539377223

2 SubmittersRCV000330057 RCV001859688

NM_015295.3(SMCHD1):c.3514+7A>G

SNV
Germline

Chr18:2739527

Conflicting classifications of pathogenicity

Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA10606324

rs_886044081

2 SubmittersRCV000263327 RCV002518068

NM_015295.3(SMCHD1):c.4827A>G (p.Leu1609=)

SNV
Germline

Chr18:2769801

Conflicting classifications of pathogenicity

Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA8871578

rs_774077792

2 SubmittersRCV000276739 RCV001406858

NM_015295.3(SMCHD1):c.5625C>T (p.Gly1875=)

SNV
Germline

Chr18:2784527

Conflicting classifications of pathogenicity

Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA10606717

rs_886044408

2 SubmittersRCV000320683 RCV002059283

NM_015295.3(SMCHD1):c.5787A>G (p.Gln1929=)

SNV
Germline

Chr18:2796016

Conflicting classifications of pathogenicity

Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA8871793

rs_369084979

2 SubmittersRCV000405877 RCV002518131

NM_015295.3(SMCHD1):c.3633+10C>T

SNV
Germline

Chr18:2740831

Conflicting classifications of pathogenicity

Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA8871254

rs_368857612

2 SubmittersRCV000357467 RCV001413532

NM_015295.3(SMCHD1):c.319C>T (p.Leu107=)

SNV
Germline

Chr18:2666926

Conflicting classifications of pathogenicity

Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA10606840

rs_769766392

2 SubmittersRCV000293635 RCV002059296

NM_015295.3(SMCHD1):c.1191C>T (p.Asp397=)

SNV
Germline

Chr18:2697890

Conflicting classifications of pathogenicity

Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA8870711

rs_535674229

2 SubmittersRCV000405521 RCV002059306

NM_006892.4(DNMT3B):c.1219G>A (p.Gly407Ser)

SNV
Germline

Chr20:32795501

Conflicting classifications of pathogenicity

Immunodeficiency-centromeric instability-facial anomalies syndrome 1
Inborn genetic diseases
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
Facioscapulohumeral muscular dystrophy 4, digenic
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9810467

rs_148646143

5 SubmittersRCV000282009 RCV002523156 RCV001049943 RCV004725178 RCV004694598

NM_015295.3(SMCHD1):c.408A>C (p.Glu136Asp)

SNV
Germline

Chr18:2667015

Conflicting classifications of pathogenicity

Arrhinia with choanal atresia and microphthalmia syndrome
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA16602279

rs_1057519643

4 SubmittersRCV000417233 RCV000497012

NM_015295.3(SMCHD1):c.410G>A (p.Gly137Glu)

SNV
Germline

Chr18:2667017

Pathogenic

Arrhinia with choanal atresia and microphthalmia syndrome
Facioscapulohumeral muscular dystrophy 2

No Assertion Criteria Provided

CA16602280

rs_1057519644

2 SubmittersRCV000417296 RCV000417337

NM_006892.4(DNMT3B):c.886G>A (p.Val296Ile)

SNV
Germline

Chr20:32791673

Conflicting classifications of pathogenicity

Condition: not provided
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
Facioscapulohumeral muscular dystrophy 4, digenic

Criteria Provided
Conflicting Classifications

CA9810330

rs_145632647

5 SubmittersRCV000483268 RCV001088271 RCV001138232 RCV005027559

NM_015295.3(SMCHD1):c.4108C>T (p.Arg1370Cys)

SNV
Germline

Chr18:2750450

Conflicting classifications of pathogenicity

Facioscapulohumeral muscular dystrophy 2
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA295479500

rs_942559171

3 SubmittersRCV000639706 RCV000517186 RCV003139714

NM_015295.3(SMCHD1):c.1040+1G>A

SNV
Germline

Chr18:2694694

Pathogenic

Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA401695240

rs_1245372794

2 SubmittersRCV003156250 RCV000559900

NM_015295.3(SMCHD1):c.925C>G (p.Leu309Val)

SNV
Germline

Chr18:2694578

Conflicting classifications of pathogenicity

Facioscapulohumeral muscular dystrophy 2
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8870660

rs_569470518

3 SubmittersRCV001454163 RCV000595520 RCV004024703

NM_015295.3(SMCHD1):c.2289G>A (p.Ser763=)

SNV
Germline

Chr18:2718186

Conflicting classifications of pathogenicity

Facioscapulohumeral muscular dystrophy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8870942

rs_58683258

2 SubmittersRCV001443023 RCV000598097

NM_015295.3(SMCHD1):c.5253T>C (p.Cys1751=)

SNV
Germline

Chr18:2775811

Conflicting classifications of pathogenicity

Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA502673571

rs_1172138387

2 SubmittersRCV000595788 RCV001504141

NM_015295.3(SMCHD1):c.2151G>A (p.Ala717=)

SNV
Germline

Chr18:2707811

Conflicting classifications of pathogenicity

Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA8870911

rs_372945746

3 SubmittersRCV000596302 RCV001087067

NM_015295.3(SMCHD1):c.2838T>C (p.Ala946=)

SNV
Germline

Chr18:2728521

Conflicting classifications of pathogenicity

Condition: not provided
Facioscapulohumeral muscular dystrophy 2
SMCHD1-related disorder

Criteria Provided
Conflicting Classifications

CA8871073

rs_375251871

4 SubmittersRCV000597933 RCV001088158 RCV003935598

NM_015295.3(SMCHD1):c.1479T>C (p.Thr493=)

SNV
Germline

Chr18:2700750

Conflicting classifications of pathogenicity

Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA8870746

rs_755868793

2 SubmittersRCV000595487 RCV001479983

NM_015295.3(SMCHD1):c.2577T>C (p.Thr859=)

SNV
Germline

Chr18:2722637

Conflicting classifications of pathogenicity

Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA502676962

rs_1408054045

2 SubmittersRCV000596289 RCV003653221

NM_015295.3(SMCHD1):c.3891T>C (p.His1297=)

SNV
Germline

Chr18:2747611

Conflicting classifications of pathogenicity

Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA8871332

rs_758075470

2 SubmittersRCV000598210 RCV002062053

NM_015295.3(SMCHD1):c.90G>A (p.Leu30=)

SNV
Germline

Chr18:2656165

Conflicting classifications of pathogenicity

Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA502670569

rs_1555622278

2 SubmittersRCV000594998 RCV002532477

NM_015295.3(SMCHD1):c.3414G>A (p.Ala1138=)

SNV
Germline

Chr18:2738534

Conflicting classifications of pathogenicity

Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA8871187

rs_778892054

2 SubmittersRCV000597408 RCV001483319

NM_015295.3(SMCHD1):c.2025G>A (p.Glu675=)

SNV
Germline

Chr18:2706432

Conflicting classifications of pathogenicity

Condition: not provided
Facioscapulohumeral muscular dystrophy 2
SMCHD1-related disorder

Criteria Provided
Conflicting Classifications

CA8870859

rs_766575963

3 SubmittersRCV000592431 RCV002065180 RCV003905556

NM_015295.3(SMCHD1):c.3484C>T (p.Gln1162Ter)

SNV
Germline

Chr18:2739490

Pathogenic

Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Single Submitter

CA401687929

rs_1555644339

1 SubmittersRCV000639711

NM_015295.3(SMCHD1):c.4719+1G>T

SNV
Germline

Chr18:2763790

Likely pathogenic

Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Single Submitter

CA401697665

rs_886044369

1 SubmittersRCV000639707

NM_006892.4(DNMT3B):c.608C>T (p.Pro203Leu)

SNV
Germline

Chr20:32787405

Conflicting classifications of pathogenicity

Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
not specified
Facioscapulohumeral muscular dystrophy 4, digenic
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
DNMT3B-related disorder

Criteria Provided
Conflicting Classifications

CA9810268

rs_147945634

4 SubmittersRCV000636690 RCV001280986 RCV001816578 RCV003224358 RCV003928070

NM_015295.3(SMCHD1):c.744A>G (p.Gln248=)

SNV
Germline

Chr18:2688499

Conflicting classifications of pathogenicity

Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA8870612

rs_746148722

2 SubmittersRCV000727961 RCV001303555

NM_015295.3(SMCHD1):c.4638G>A (p.Glu1546=)

SNV
Germline

Chr18:2763708

Conflicting classifications of pathogenicity

Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA502690722

rs_1568336400

2 SubmittersRCV000728006 RCV005056482

NM_015295.3(SMCHD1):c.162G>A (p.Ala54=)

SNV
Germline

Chr18:2656237

Conflicting classifications of pathogenicity

Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA8870470

rs_766395572

2 SubmittersRCV000728344 RCV000801386

NM_015295.3(SMCHD1):c.4461A>G (p.Gln1487=)

SNV
Germline

Chr18:2762131

Conflicting classifications of pathogenicity

Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA8871493

rs_763699437

3 SubmittersRCV000729503 RCV001862173

NM_015295.3(SMCHD1):c.954C>T (p.Ser318=)

SNV
Germline

Chr18:2694607

Conflicting classifications of pathogenicity

Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA8870665

rs_769558309

2 SubmittersRCV000729866 RCV002060983

NM_015295.3(SMCHD1):c.2604-7T>C

SNV
Germline

Chr18:2724892

Conflicting classifications of pathogenicity

Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA8871020

rs_751707679

2 SubmittersRCV000730308 RCV002535149

NM_015295.3(SMCHD1):c.1186C>T (p.Gln396Ter)

SNV
Germline

Chr18:2697885

Pathogenic

Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA401697129

rs_377471712

3 SubmittersRCV000731133 RCV002535190

NM_015295.3(SMCHD1):c.5127G>T (p.Ser1709=)

SNV
Germline

Chr18:2772324

Conflicting classifications of pathogenicity

Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA502672892

rs_371834462

2 SubmittersRCV000731981 RCV001078602

NM_015295.3(SMCHD1):c.5526G>A (p.Ala1842=)

SNV
Germline

Chr18:2778218

Conflicting classifications of pathogenicity

Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA8871736

rs_760266416

2 SubmittersRCV000732611 RCV002535284

NM_015295.3(SMCHD1):c.2064-9T>C

SNV
Germline

Chr18:2707554

Conflicting classifications of pathogenicity

Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA8870881

rs_376058538

2 SubmittersRCV000733403 RCV002067151

NM_015295.3(SMCHD1):c.2701-8T>C

SNV
Germline

Chr18:2726444

Conflicting classifications of pathogenicity

Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA628044075

rs_1324600079

2 SubmittersRCV000734302 RCV001397137

NM_015295.3(SMCHD1):c.4161C>T (p.Phe1387=)

SNV
Germline

Chr18:2750503

Conflicting classifications of pathogenicity

Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA8871393

rs_553970445

2 SubmittersRCV000734756 RCV003534751

NM_006892.4(DNMT3B):c.1490+8C>G

SNV
Germline

Chr20:32797307

Conflicting classifications of pathogenicity

Immunodeficiency-centromeric instability-facial anomalies syndrome 1
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
Facioscapulohumeral muscular dystrophy 4, digenic
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency

Criteria Provided
Conflicting Classifications

CA9810602

rs_746731138

2 SubmittersRCV000768198 RCV003224439 RCV003758924

NM_015295.3(SMCHD1):c.3716G>A (p.Arg1239His)

SNV
Germline

Chr18:2743843

Conflicting classifications of pathogenicity

Facioscapulohumeral muscular dystrophy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8871284

rs_750301200

2 SubmittersRCV001037476 RCV005492918

NM_015295.3(SMCHD1):c.1654C>T (p.Arg552Ter)

SNV
Germline

Chr18:2703698

Pathogenic

Facioscapulohumeral muscular dystrophy 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA401678023

rs_1224850132

2 SubmittersRCV001212601 RCV001780128

NM_015295.3(SMCHD1):c.87C>A (p.Tyr29Ter)

SNV
Germline

Chr18:2656162

Pathogenic

Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Single Submitter

CA401684911

rs_2073049380

1 SubmittersRCV001227734

NM_015295.3(SMCHD1):c.3469G>T (p.Gly1157Ter)

SNV
Germline

Chr18:2739475

Pathogenic

Facioscapulohumeral muscular dystrophy 2

No Assertion Criteria Provided

CA401687866

rs_2075308386

1 SubmittersRCV001310239

NM_015295.3(SMCHD1):c.340C>T (p.Arg114Ter)

SNV
Germline

Chr18:2666947

Pathogenic

Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Single Submitter

CA401687927

rs_2143805963

1 SubmittersRCV001385548

NM_015295.3(SMCHD1):c.3323T>C (p.Leu1108Pro)

SNV
Germline

Chr18:2738443

Likely pathogenic

Facioscapulohumeral muscular dystrophy 2

No Assertion Criteria Provided

CA401686914

rs_2143530610

1 SubmittersRCV001542794

NM_006892.4(DNMT3B):c.1579T>C (p.Cys527Arg)

SNV
Germline

Chr20:32798548

Pathogenic

Facioscapulohumeral muscular dystrophy 4, digenic

No Assertion Criteria Provided

CA408587078

rs_2146029958

1 SubmittersRCV001568341

NM_015295.3(SMCHD1):c.2008G>T (p.Asp670Tyr)

SNV
Unknown

Chr18:2706415

Likely pathogenic

Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Single Submitter

CA401679849

rs_2143241656

1 SubmittersRCV001730113

NM_015295.3(SMCHD1):c.5383C>T (p.Arg1795Ter)

SNV
Germline

Chr18:2777822

Pathogenic

Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA295488287

rs_867694014

2 SubmittersRCV001784999 RCV003653493

NM_015295.3(SMCHD1):c.3736C>T (p.Arg1246Ter)

SNV
Germline

Chr18:2743863

Pathogenic

Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Single Submitter

CA401689619

rs_924153704

1 SubmittersRCV002007289

NM_015295.3(SMCHD1):c.1647+3A>G

SNV
Germline

Chr18:2700921

Pathogenic

Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Single Submitter

CA2573155051

rs_2143184995

1 SubmittersRCV001927967

NM_015295.3(SMCHD1):c.2732T>G (p.Leu911Ter)

SNV
Germline

Chr18:2726483

Pathogenic

Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Single Submitter

CA401682507

rs_2143438994

1 SubmittersRCV001970062

NM_015295.3(SMCHD1):c.1396A>T (p.Arg466Ter)

SNV
Germline

Chr18:2700592

Pathogenic

Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Single Submitter

CA401699021

rs_2143182200

1 SubmittersRCV001972732

NM_015295.3(SMCHD1):c.1463+10A>G

SNV
Germline

Chr18:2700669

Conflicting classifications of pathogenicity

Facioscapulohumeral muscular dystrophy 2
See cases

Criteria Provided
Conflicting Classifications

CA2280682481

rs_2074381441

2 SubmittersRCV003094108 RCV002252869

NM_015295.3(SMCHD1):c.3099T>C (p.Ser1033=)

SNV
Germline

Chr18:2732315

Conflicting classifications of pathogenicity

Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA8871135

rs_769850705

2 SubmittersRCV002474461 RCV005098469

NM_015295.3(SMCHD1):c.2688T>G (p.Ser896=)

SNV
Germline

Chr18:2724983

Conflicting classifications of pathogenicity

Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Conflicting Classifications

CA502678634

rs_2074997790

2 SubmittersRCV002474462 RCV002571529

NM_015295.3(SMCHD1):c.5801G>A (p.Arg1934His)

SNV
Germline

Chr18:2796030

Conflicting classifications of pathogenicity

Facioscapulohumeral muscular dystrophy 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8871795

rs_779941077

2 SubmittersRCV003068787 RCV003081117

NM_015295.3(SMCHD1):c.3247A>G (p.Ile1083Val)

SNV
Germline

Chr18:2732463

Conflicting classifications of pathogenicity

Facioscapulohumeral muscular dystrophy 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8871154

rs_199901577

2 SubmittersRCV003110851 RCV003420545

NM_015295.3(SMCHD1):c.3019C>T (p.Gln1007Ter)

SNV
Germline

Chr18:2729380

Pathogenic

Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Single Submitter

CA401684290

rs_2510085323

1 SubmittersRCV002706025

NM_015295.3(SMCHD1):c.3786G>A (p.Trp1262Ter)

SNV
Germline

Chr18:2743913

Pathogenic

Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Single Submitter

CA401689764

rs_2510110251

1 SubmittersRCV002932869

NM_015295.3(SMCHD1):c.3938C>G (p.Ser1313Ter)

SNV
Germline

Chr18:2750053

Pathogenic/Likely pathogenic

Condition: not provided
Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Multiple Submitters
No Conflicts

CA401691385

rs_1345926097

2 SubmittersRCV003134163 RCV003649427

NM_015295.3(SMCHD1):c.2656C>T (p.Arg886Ter)

SNV
Germline

Chr18:2724951

Pathogenic/Likely pathogenic

Facioscapulohumeral muscular dystrophy 2
Male infertility with azoospermia or oligozoospermia due to single gene mutation

Criteria Provided
Multiple Submitters
No Conflicts

CA401682148

rs_201632358

2 SubmittersRCV003535031 RCV003991628

NM_015295.3(SMCHD1):c.262+1G>A

SNV
Germline

Chr18:2666233

Likely pathogenic

Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Single Submitter

CA401687484

rs_2510097246

1 SubmittersRCV003649711

NM_015295.3(SMCHD1):c.1647+1G>T

SNV
Germline

Chr18:2700919

Likely pathogenic

Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Single Submitter

CA401700437

rs_2510028167

1 SubmittersRCV003650894

NM_006892.4(DNMT3B):c.2162T>C (p.Ile721Thr)

SNV
Germline

Chr20:32802401

Conflicting classifications of pathogenicity

not specified
Facioscapulohumeral muscular dystrophy 4, digenic
Immunodeficiency-centromeric instability-facial anomalies syndrome 1

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004690955 RCV005023636

NM_015295.3(SMCHD1):c.1240A>T (p.Lys414Ter)

SNV
Germline

Chr18:2697939

Pathogenic

Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005130151

NM_015295.3(SMCHD1):c.3277-2A>G

SNV
Germline

Chr18:2738395

Likely pathogenic

Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005138034

NM_015295.3(SMCHD1):c.4282-2A>G

SNV
Germline

Chr18:2752486

Likely pathogenic

Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005138225

NM_015295.3(SMCHD1):c.4966+1G>C

SNV
Germline

Chr18:2770109

Likely pathogenic

Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005137471

NM_015295.3(SMCHD1):c.2260+5G>A

SNV
Germline

Chr18:2707925

Pathogenic

Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005179319

NM_015295.3(SMCHD1):c.1788G>A (p.Trp596Ter)

SNV
Germline

Chr18:2703832

Pathogenic

Facioscapulohumeral muscular dystrophy 2

Criteria Provided
Single Submitter

1 SubmittersRCV005193555