MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Muscular Dystrophy, Facioscapulohumeral (D020391)
..Starting node ..Facioscapulohumeral Muscular Dystrophy 1B (C563557)
Child Nodes:
Sister Nodes:
..Facioscapulohumeral muscular dystrophy 1a (C536391)
..Facioscapulohumeral Muscular Dystrophy 1B (C563557)
..Muscular Dystrophy, Scapulohumeral (C562932)
..Myopathy with Storage of Glycoproteins and Glycosaminoglycans (C563542)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

4531

Name:

Facioscapulohumeral Muscular Dystrophy 1B

Definition:

Alternative IDs:

OMIM:158901

ParentIDs:

MESH:D020391

TreeNumbers:

C05.651.534.500.400/C563557 |C10.668.491.175.500.400/C563557 |C16.320.577.400/C563557

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease

Reference:

MedGen: C563557
MeSH: C563557
OMIM: 158901;
MSeqDR :
Genes: SMCHD1;

Phenotypes

1	HP:0010984	Digenic inheritance
2	HP:0003581	Adult onset
3	HP:0030664	Beevor's sign	HP:0040284
4	HP:0010628	Facial palsy	HP:0040284
5	HP:0009027	Foot dorsiflexor weakness	HP:0040284
6	HP:0000365	Hearing impairment	HP:0040284
7	HP:0003749	Pelvic girdle muscle weakness	HP:0040284
8	HP:0003691	Scapular winging	HP:0040284
9	HP:0003691	Scapular winging
10	HP:0008970	Scapulohumeral muscular dystrophy

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NC_000018.9:g.(?_2656055)_(2656280_?)dup	23347	SMCHD1	Uncertain significance	-1	RCV000708509;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2656055	2656280		-	C1834671 158901 Facioscapulohumeral muscular dystrophy 2;
NC_000018.9:g.(?_2656055)_(3215241_?)dup	23347	SMCHD1	Uncertain significance	-1	RCV000708121;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2656055	3215241		-	C1834671 158901 Facioscapulohumeral muscular dystrophy 2;
NC_000018.9:g.(?_2656075)_(2802550_?)dup	23347	SMCHD1	Uncertain significance	-1	RCV001922996;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2656075	2802550	-1	-
NC_000018.9:g.(?_2656075)_(3215221_?)del	23347	SMCHD1	Pathogenic	-1	RCV002035283;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2656075	3215221	-1	-
NC_000018.9:g.(?_2656075)_(2656280_?)del	23347	SMCHD1	Pathogenic	-1	RCV001886503;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2656075	2656280	-1	-
NC_000018.9:g.(?_2656075)_(2688765_?)del	23347	SMCHD1	Pathogenic	-1	RCV003119569;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2656075	2688765		-
NM_015295.3(SMCHD1):c.11C>T (p.Ala4Val)	23347	SMCHD1	Uncertain significance	-1	RCV002726108;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2656085	2656085	NC_000018.9:g.2656085C>T	-
NM_015295.3(SMCHD1):c.15C>A (p.Asp5Glu)	23347	SMCHD1	Uncertain significance	rs769401596	RCV000529662;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2656089	2656089	NC_000018.9:g.2656089C>A	ClinGen:CA401684502	C1834671 158901 Facioscapulohumeral muscular dystrophy 2;
NM_015295.3(SMCHD1):c.15C>T (p.Asp5_Gly6=)	23347	SMCHD1	Likely benign	-1	RCV003093303;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2656089	2656089	NC_000018.9:g.2656089C>T	-
NM_015295.3(SMCHD1):c.19G>A (p.Gly7Ser)	23347	SMCHD1	Uncertain significance	rs762420641	RCV001305407;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2656093	2656093	2656093	-
NM_015295.3(SMCHD1):c.29G>T (p.Gly10Val)	23347	SMCHD1	Uncertain significance	-1	RCV002008091;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2656103	2656103	2656103	-
NM_015295.3(SMCHD1):c.34G>A (p.Ala12Thr)	23347	SMCHD1	Uncertain significance	-1	RCV002297571;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2656108	2656108	2656108	-
NM_015295.3(SMCHD1):c.35C>A (p.Ala12Asp)	23347	SMCHD1	Uncertain significance	-1	RCV001934792;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2656109	2656109	2656109	-
NM_015295.3(SMCHD1):c.37T>G (p.Ser13Ala)	23347	SMCHD1	Uncertain significance	rs751463286	RCV000593750\|RCV001372254;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2656111	2656111	18:g.2656111T>G	ClinGen:CA8870442	CN169374 not specified;
NM_015295.3(SMCHD1):c.38C>T (p.Ser13Phe)	23347	SMCHD1	Uncertain significance	-1	RCV003083155;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2656112	2656112	NC_000018.9:g.2656112C>T	-
NM_015295.3(SMCHD1):c.40G>A (p.Val14Met)	23347	SMCHD1	Uncertain significance	rs559283578	RCV000402221\|RCV001855170;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2656114	2656114	18:g.2656114G>A	ClinGen:CA8870444	CN169374 not specified;
NM_015295.3(SMCHD1):c.43G>T (p.Gly15Trp)	23347	SMCHD1	Uncertain significance	-1	RCV002790728;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2656117	2656117	NC_000018.9:g.2656117G>T	-
NM_015295.3(SMCHD1):c.45G>A (p.Gly15=)	23347	SMCHD1	Likely benign	-1	RCV001411762;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2656119	2656119	2656119	-
NM_015295.3(SMCHD1):c.51GGA[1] (p.Glu18del)	23347	SMCHD1	Uncertain significance	-1	RCV001943391;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2656123	2656125	2656122	-
NM_015295.3(SMCHD1):c.54G>C (p.Glu18Asp)	23347	SMCHD1	Likely benign	rs779165187	RCV000594166\|RCV002062054;	N	MedGen:CN169374\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2656128	2656128	18:g.2656128G>C	ClinGen:CA8870450	CN169374 not specified;
NM_015295.3(SMCHD1):c.55G>C (p.Asp19His)	23347	SMCHD1	Uncertain significance	rs748596758	RCV000341156\|RCV001855126;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2656129	2656129	18:g.2656129G>C	ClinGen:CA8870451	CN169374 not specified;
NM_015295.3(SMCHD1):c.76A>T (p.Arg26Trp)	23347	SMCHD1	Uncertain significance	-1	RCV001906753;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2656150	2656150	2656150	-
NM_015295.3(SMCHD1):c.79A>G (p.Thr27Ala)	23347	SMCHD1	Uncertain significance	rs2073049032	RCV001301642;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2656153	2656153	2656153	-
NM_015295.3(SMCHD1):c.87C>A (p.Tyr29Ter)	23347	SMCHD1	Pathogenic	rs2073049380	RCV001227734;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2656161	2656161	18:g.2656161C>A	-
NM_015295.3(SMCHD1):c.90G>A (p.Leu30=)	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs1555622278	RCV000594998\|RCV002532477;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2656164	2656164	18:g.2656164G>A	ClinGen:CA502670569	CN169374 not specified;
NM_015295.3(SMCHD1):c.105A>G (p.Glu35_Lys36=)	23347	SMCHD1	Likely benign	-1	RCV003082576;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2656179	2656179	NC_000018.9:g.2656179A>G	-
NM_015295.3(SMCHD1):c.109G>A (p.Glu37Lys)	23347	SMCHD1	Uncertain significance	-1	RCV002904974;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2656183	2656183	NC_000018.9:g.2656183G>A	-
NM_015295.3(SMCHD1):c.114C>G (p.Ser38=)	23347	SMCHD1	Likely benign	-1	RCV002133339;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2656188	2656188	2656188	-
NM_015295.3(SMCHD1):c.114C>A (p.Ser38_Glu39=)	23347	SMCHD1	Likely benign	-1	RCV002618780;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2656188	2656188	NC_000018.9:g.2656188C>A	-
NM_015295.3(SMCHD1):c.133C>T (p.Leu45_Gln46=)	23347	SMCHD1	Likely benign	-1	RCV003087255;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2656207	2656207	NC_000018.9:g.2656207C>T	-
NM_015295.3(SMCHD1):c.148C>G (p.Arg50Gly)	23347	SMCHD1	Uncertain significance	-1	RCV002963439;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2656222	2656222	NC_000018.9:g.2656222C>G	-
NM_015295.3(SMCHD1):c.150C>G (p.Arg50=)	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs139872818	RCV000385524\|RCV001078703;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2656224	2656224	18:g.2656224C>G	ClinGen:CA8870467	CN169374 not specified;
NM_015295.3(SMCHD1):c.160G>A (p.Ala54Thr)	23347	SMCHD1	Uncertain significance	-1	RCV001368239\|RCV003136039;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MedGen:CN517202	18	2656234	2656234	2656234	-
NM_015295.3(SMCHD1):c.162G>T (p.Ala54=)	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs766395572	RCV000350229\|RCV002059246;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2656236	2656236	18:g.2656236G>T	ClinGen:CA8870471	CN169374 not specified;
NM_015295.3(SMCHD1):c.162G>A (p.Ala54=)	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs766395572	RCV000728344\|RCV000801386;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2656236	2656236	NC_000018.9:g.2656236G>A	-
NM_015295.3(SMCHD1):c.182_183dup (p.Gln62fs)	23347	SMCHD1	Pathogenic	rs2073052786	RCV001310238;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2656247	2656248	2656247	OMIM:614982.0016
NM_015295.3(SMCHD1):c.174G>C (p.Ala58=)	23347	SMCHD1	Benign	rs2430853	RCV000243018\|RCV000993029\|RCV001510266\|RCV001808706;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MONDO:MONDO:0011323,MedGen:C1863878,OMIM:603457, Orphanet:1135, Orphanet:2250	18	2656248	2656248	18:g.2656248G>C	ClinGen:CA8870474	CN169374 not specified;
NM_015295.3(SMCHD1):c.182_183del (p.Cys61fs)	23347	SMCHD1	Likely pathogenic	-1	RCV002290239;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2656248	2656249	2656247	-
NM_015295.3(SMCHD1):c.174G>T (p.Ala58_Cys59=)	23347	SMCHD1	Likely benign	-1	RCV002593701;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2656248	2656248	NC_000018.9:g.2656248G>T	-
NM_015295.3(SMCHD1):c.176G>T (p.Cys59Phe)	23347	SMCHD1	Uncertain significance	rs1469724104	RCV001302694;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2656250	2656250	2656250	-
NM_015295.3(SMCHD1):c.186+6C>G	23347	SMCHD1	Uncertain significance	-1	RCV003074286;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2656266	2656266	NC_000018.9:g.2656266C>G	-
NM_015295.3(SMCHD1):c.186+16_186+46dup	23347	SMCHD1	Likely benign	-1	RCV002161760;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2656269	2656270	2656269	-
NM_015295.3(SMCHD1):c.186+14C>A	23347	SMCHD1	Likely benign	-1	RCV001941702;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2656274	2656274	2656274	-
NM_015295.3(SMCHD1):c.186+20A>G	23347	SMCHD1	Likely benign	-1	RCV002193823;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2656280	2656280	2656280	-
NC_000018.9:g.(?_2666136)_(2667050_?)del	23347	SMCHD1	Pathogenic	-1	RCV001972403;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2666136	2667050	-1	-
NM_015295.3(SMCHD1):c.187-14C>T	23347	SMCHD1	Likely benign	-1	RCV002811390;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2666142	2666142	NC_000018.9:g.2666142C>T	-
NM_015295.3(SMCHD1):c.190C>T (p.Leu64Phe)	23347	SMCHD1	Uncertain significance	-1	RCV001958490;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2666159	2666159	2666159	-
NM_015295.3(SMCHD1):c.194G>A (p.Gly65Asp)	23347	SMCHD1	Uncertain significance	-1	RCV001954158;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2666163	2666163	2666163	-
NM_015295.3(SMCHD1):c.202C>T (p.Pro68Ser)	23347	SMCHD1	Uncertain significance	rs1450657748	RCV001066342\|RCV002554491;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MeSH:D030342,MedGen:C0950123	18	2666171	2666171	18:g.2666171C>T	-
NM_015295.3(SMCHD1):c.216T>G (p.Phe72Leu)	23347	SMCHD1	Uncertain significance	-1	RCV002302263;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2666185	2666185	2666185	-
NM_015295.3(SMCHD1):c.244A>G (p.Ile82Val)	23347	SMCHD1	Uncertain significance	rs181045631	RCV000272361\|RCV001037349;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2666213	2666213	18:g.2666213A>G	ClinGen:CA8870497	CN169374 not specified;
NM_015295.3(SMCHD1):c.247A>G (p.Thr83Ala)	23347	SMCHD1	Uncertain significance	rs772782379	RCV001322571;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2666216	2666216	2666216	-
NM_015295.3(SMCHD1):c.253G>T (p.Asp85Tyr)	23347	SMCHD1	Uncertain significance	-1	RCV002814561;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2666222	2666222	NC_000018.9:g.2666222G>T	-
NM_015295.3(SMCHD1):c.261del (p.Phe87fs)	23347	SMCHD1	Pathogenic	-1	RCV001837556\|RCV001869845;	N	Human Phenotype Ontology:HP:0001324,Human Phenotype Ontology:HP:0002309,Human Phenotype Ontology:HP:0008979,Human Phenotype Ontology:HP:0009012,Human Phenotype Ontology:HP:0009061,MedGen:C0151786\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:	18	2666227	2666227	2666226	-
NM_015295.3(SMCHD1):c.262+4G>A	23347	SMCHD1	Uncertain significance	-1	RCV001893932;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2666235	2666235	2666235	-
NM_015295.3(SMCHD1):c.263-15C>T	23347	SMCHD1	Likely benign	-1	RCV002624259;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2666854	2666854	NC_000018.9:g.2666854C>T	-
NM_015295.3(SMCHD1):c.263-12T>C	23347	SMCHD1	Likely benign	-1	RCV002159710;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2666857	2666857	2666857	-
NM_015295.3(SMCHD1):c.263-10_263-9del	23347	SMCHD1	Likely benign	-1	RCV002087632;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2666859	2666860	2666858	-
NM_015295.3(SMCHD1):c.263-8G>C	23347	SMCHD1	Likely benign	-1	RCV002631940;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2666861	2666861	NC_000018.9:g.2666861G>C	-
NM_015295.3(SMCHD1):c.263A>G (p.Asp88Gly)	23347	SMCHD1	Uncertain significance	rs200521548	RCV000239296\|RCV000726281\|RCV001045423;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2666869	2666869	18:g.2666869A>G	ClinGen:CA8870519	CN169374 not specified;
NM_015295.3(SMCHD1):c.266A>T (p.Glu89Val)	23347	SMCHD1	Uncertain significance	-1	RCV001944745;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2666872	2666872	2666872	-
NM_015295.3(SMCHD1):c.279T>G (p.Asp93Glu)	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs201466122	RCV000263109\|RCV001089036;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2666885	2666885	18:g.2666885T>G	ClinGen:CA8870521	CN169374 not specified;
NM_015295.3(SMCHD1):c.288C>T (p.Thr96=)	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs369550628	RCV000248986\|RCV000727120\|RCV001088098;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2666894	2666894	18:g.2666894C>T	ClinGen:CA8870524	CN169374 not specified;
NM_015295.3(SMCHD1):c.288C>G (p.Thr96=)	23347	SMCHD1	Likely benign	-1	RCV002074544;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2666894	2666894	2666894	-
NM_015295.3(SMCHD1):c.297G>C (p.Leu99=)	23347	SMCHD1	Likely benign	-1	RCV001450672;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2666903	2666903	2666903	-
NM_015295.3(SMCHD1):c.301C>A (p.Gln101Lys)	23347	SMCHD1	Uncertain significance	rs2073456934	RCV001070222;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2666907	2666907	18:g.2666907C>A	-
NM_015295.3(SMCHD1):c.302A>G (p.Gln101Arg)	23347	SMCHD1	Uncertain significance	-1	RCV002302251;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2666908	2666908	2666908	-
NM_015295.3(SMCHD1):c.306G>A (p.Ser102=)	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs7229488	RCV000294460\|RCV001289227\|RCV002059108;	N	MedGen:CN517202\|MedGen:CN169374\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2666912	2666912	18:g.2666912G>A	ClinGen:CA8870526	CN169374 not specified;
NM_015295.3(SMCHD1):c.311A>G (p.Asn104Ser)	23347	SMCHD1	Uncertain significance	rs375795924	RCV001219404\|RCV003142170;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MedGen:CN517202	18	2666917	2666917	18:g.2666917A>G	-
NM_015295.3(SMCHD1):c.318A>G (p.Leu106=)	23347	SMCHD1	Likely benign	-1	RCV001493261;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2666924	2666924	2666924	-
NM_015295.3(SMCHD1):c.319C>T (p.Leu107=)	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs769766392	RCV000293635\|RCV002059296;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2666925	2666925	18:g.2666925C>T	ClinGen:CA10606840	CN169374 not specified;
NM_015295.3(SMCHD1):c.321A>G (p.Leu107=)	23347	SMCHD1	Benign/Likely benign	rs567120742	RCV000270192\|RCV000964701\|RCV001521257;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2666927	2666927	18:g.2666927A>G	ClinGen:CA8870530	CN169374 not specified;
NM_015295.3(SMCHD1):c.331A>G (p.Thr111Ala)	23347	SMCHD1	Uncertain significance	-1	RCV001864359;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2666937	2666937	2666937	-
NM_015295.3(SMCHD1):c.333G>A (p.Thr111=)	23347	SMCHD1	Likely benign	rs761171049	RCV000592874\|RCV000873511;	N	MedGen:CN169374\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2666939	2666939	18:g.2666939G>A	ClinGen:CA8870532	CN169374 not specified;
NM_015295.3(SMCHD1):c.340C>T (p.Arg114Ter)	23347	SMCHD1	Pathogenic	-1	RCV001385548;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2666946	2666946	2666946	-
NM_015295.3(SMCHD1):c.341G>A (p.Arg114Gln)	23347	SMCHD1	Uncertain significance	-1	RCV002832863;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2666947	2666947	NC_000018.9:g.2666947G>A	-
NM_015295.3(SMCHD1):c.353T>C (p.Leu118Ser)	23347	SMCHD1	Uncertain significance	-1	RCV002300185;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2666959	2666959	2666959	-
NM_015295.3(SMCHD1):c.369A>G (p.Thr123_Leu124=)	23347	SMCHD1	Likely benign	-1	RCV002961903;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2666975	2666975	NC_000018.9:g.2666975A>G	-
NM_015295.3(SMCHD1):c.399T>C (p.Tyr133=)	23347	SMCHD1	Benign	rs7239096	RCV000246263\|RCV000557545\|RCV001610691;	N	MedGen:CN169374\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MedGen:CN517202	18	2667005	2667005	NC_000018.9:g.2667005T>C	ClinGen:CA8870537	C1834671 158901 Facioscapulohumeral muscular dystrophy 2;
NM_015295.3(SMCHD1):c.408A>C (p.Glu136Asp)	23347	SMCHD1	Pathogenic	rs1057519643	RCV000417233\|RCV000497012;	N	MONDO:MONDO:0011323,MedGen:C1863878,OMIM:603457, Orphanet:1135, Orphanet:2250\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2667014	2667014	NC_000018.9:g.2667014A>C	ClinGen:CA16602279,OMIM:614982.0011	C1863878 603457 Arhinia choanal atresia microphthalmia;
NM_015295.3(SMCHD1):c.408A>G (p.Glu136=)	23347	SMCHD1	Likely benign	rs1057519643	RCV000937054\|RCV001442673;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2667014	2667014	18:g.2667014A>G	-
NM_015295.3(SMCHD1):c.410G>A (p.Gly137Glu)	23347	SMCHD1	Pathogenic	rs1057519644	RCV000417296\|RCV000417337;	N	MONDO:MONDO:0011323,MedGen:C1863878,OMIM:603457, Orphanet:1135, Orphanet:2250\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2667016	2667016	NC_000018.9:g.2667016G>A	ClinGen:CA16602280,OMIM:614982.0012	C1863878 603457 Arhinia choanal atresia microphthalmia;
NM_015295.3(SMCHD1):c.420T>G (p.Pro140=)	23347	SMCHD1	Likely benign	-1	RCV002120687;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2667026	2667026	2667026	-
NM_015295.3(SMCHD1):c.424C>T (p.Pro142Ser)	23347	SMCHD1	Uncertain significance	-1	RCV001912440;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2667030	2667030	2667030	-
NM_015295.3(SMCHD1):c.424+10C>T	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs201631086	RCV000246732\|RCV000509531\|RCV000725190;	N	MedGen:CN169374\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MedGen:CN517202	18	2667040	2667040	NC_000018.9:g.2667040C>T	ClinGen:CA8870540	C1834671 158901 Facioscapulohumeral muscular dystrophy 2;
NM_015295.3(SMCHD1):c.424+12A>G	23347	SMCHD1	Likely benign	-1	RCV002776377;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2667042	2667042	NC_000018.9:g.2667042A>G	-
NM_015295.3(SMCHD1):c.424+16A>G	23347	SMCHD1	Likely benign	-1	RCV002908384;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2667046	2667046	NC_000018.9:g.2667046A>G	-
NM_015295.3(SMCHD1):c.424+18A>G	23347	SMCHD1	Likely benign	-1	RCV002917386;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2667048	2667048	NC_000018.9:g.2667048A>G	-
NM_015295.3(SMCHD1):c.425-12G>C	23347	SMCHD1	Likely benign	-1	RCV002120612;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2673268	2673268	2673268	-
NM_015295.3(SMCHD1):c.425-7C>T	23347	SMCHD1	Likely benign	-1	RCV002205382;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2673273	2673273	2673273	-
NM_015295.3(SMCHD1):c.432T>A (p.Ala144=)	23347	SMCHD1	Likely benign	-1	RCV002154686;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2673287	2673287	2673287	-
NM_015295.3(SMCHD1):c.437C>G (p.Ala146Gly)	23347	SMCHD1	Uncertain significance	-1	RCV001884031;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2673292	2673292	2673292	-
NM_015295.3(SMCHD1):c.438G>A (p.Ala146_Glu147=)	23347	SMCHD1	Likely benign	-1	RCV002928046;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2673293	2673293	NC_000018.9:g.2673293G>A	-
NM_015295.3(SMCHD1):c.441A>G (p.Glu147_Leu148=)	23347	SMCHD1	Likely benign	-1	RCV002866530;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2673296	2673296	NC_000018.9:g.2673296A>G	-
NM_015295.3(SMCHD1):c.445A>C (p.Ile149Leu)	23347	SMCHD1	Uncertain significance	-1	RCV001874489;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2673300	2673300	2673300	-
NM_015295.3(SMCHD1):c.473G>A (p.Arg158His)	23347	SMCHD1	Uncertain significance	rs531460906	RCV000295034\|RCV000726417\|RCV000794387\|RCV002518111;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MeSH:D030342,MedGen:C0950123	18	2673328	2673328	18:g.2673328G>A	ClinGen:CA8870557	CN169374 not specified;
NM_015295.3(SMCHD1):c.474T>G (p.Arg158=)	23347	SMCHD1	Likely benign	-1	RCV001460648;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2673329	2673329	2673329	-
NM_015295.3(SMCHD1):c.482G>T (p.Gly161Val)	23347	SMCHD1	Uncertain significance	rs376920153	RCV000819750\|RCV003141846;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MedGen:CN517202	18	2673337	2673337	18:g.2673337G>T	-
NM_015295.3(SMCHD1):c.485T>C (p.Val162Ala)	23347	SMCHD1	Uncertain significance	-1	RCV001982004;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2673340	2673340	2673340	-
NM_015295.3(SMCHD1):c.488GAA[1] (p.Arg164del)	23347	SMCHD1	Uncertain significance	rs1598293848	RCV000996631\|RCV002550698;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2673342	2673344	18:g.2673342_2673344del	-
NM_015295.3(SMCHD1):c.505T>C (p.Leu169_Leu170=)	23347	SMCHD1	Likely benign	-1	RCV002599457;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2673360	2673360	NC_000018.9:g.2673360T>C	-
NM_015295.3(SMCHD1):c.507+12A>C	23347	SMCHD1	Likely benign	-1	RCV002112765;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2673374	2673374	2673374	-
NM_015295.3(SMCHD1):c.507+16T>C	23347	SMCHD1	Likely benign	-1	RCV002695590;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2673378	2673378	NC_000018.9:g.2673378T>C	-
NM_015295.3(SMCHD1):c.507+17G>A	23347	SMCHD1	Likely benign	-1	RCV002209239;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2673379	2673379	2673379	-
NM_015295.3(SMCHD1):c.508-13T>C	23347	SMCHD1	Likely benign	-1	RCV003079400;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2674001	2674001	NC_000018.9:g.2674001T>C	-
NM_015295.3(SMCHD1):c.522A>G (p.Thr174=)	23347	SMCHD1	Benign	rs370798030	RCV002539219;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2674028	2674028	18:g.2674028A>G	-
NM_015295.3(SMCHD1):c.544G>A (p.Val182Met)	23347	SMCHD1	Uncertain significance	-1	RCV003050894;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2674050	2674050	NC_000018.9:g.2674050G>A	-
NM_015295.3(SMCHD1):c.555T>C (p.Asn185=)	23347	SMCHD1	Likely benign	-1	RCV002073803;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2674061	2674061	2674061	-
NM_015295.3(SMCHD1):c.561A>T (p.Arg187Ser)	23347	SMCHD1	Uncertain significance	-1	RCV002031372;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2674067	2674067	2674067	-
NM_015295.3(SMCHD1):c.569C>G (p.Thr190Ser)	23347	SMCHD1	Uncertain significance	-1	RCV001926600;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2674075	2674075	2674075	-
NM_015295.3(SMCHD1):c.583A>T (p.Asn195Tyr)	23347	SMCHD1	Uncertain significance	-1	RCV002298425;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2674089	2674089	2674089	-
NM_015295.3(SMCHD1):c.594C>G (p.Ala198_Val199=)	23347	SMCHD1	Likely benign	-1	RCV002971369;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2674100	2674100	NC_000018.9:g.2674100C>G	-
NM_015295.3(SMCHD1):c.595G>A (p.Val199Met)	23347	SMCHD1	Uncertain significance	-1	RCV001909452;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2674101	2674101	2674101	-
NM_015295.3(SMCHD1):c.597G>A (p.Val199_Tyr200=)	23347	SMCHD1	Likely benign	-1	RCV002651816;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2674103	2674103	NC_000018.9:g.2674103G>A	-
NM_015295.3(SMCHD1):c.606G>T (p.Leu202Phe)	23347	SMCHD1	Uncertain significance	-1	RCV001993656;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2674112	2674112	2674112	-
NM_015295.3(SMCHD1):c.608C>T (p.Ser203Leu)	23347	SMCHD1	Uncertain significance	-1	RCV001962068;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2674114	2674114	2674114	-
NM_015295.3(SMCHD1):c.614T>A (p.Phe205Tyr)	23347	SMCHD1	Uncertain significance	-1	RCV002659420;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2674120	2674120	NC_000018.9:g.2674120T>A	-
NM_015295.3(SMCHD1):c.630C>T (p.Asp210=)	23347	SMCHD1	Likely benign	rs778017141	RCV000907743\|RCV002065763;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2674136	2674136	18:g.2674136C>T	-
NM_015295.3(SMCHD1):c.638+14_638+17del	23347	SMCHD1	Likely benign	-1	RCV002119238;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2674155	2674158	2674154	-
NM_015295.3(SMCHD1):c.638+27del	23347	SMCHD1	Benign	-1	RCV002218199;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2674160	2674160	2674159	-
NM_015295.3(SMCHD1):c.639-20G>A	23347	SMCHD1	Likely benign	-1	RCV002077793;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2688372	2688372	2688372	-
NM_015295.3(SMCHD1):c.649G>A (p.Gly217Arg)	23347	SMCHD1	Uncertain significance	-1	RCV003037976;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2688402	2688402	NC_000018.9:g.2688402G>A	-
NM_015295.3(SMCHD1):c.650G>T (p.Gly217Val)	23347	SMCHD1	Uncertain significance	-1	RCV001987053;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2688403	2688403	2688403	-
NM_015295.3(SMCHD1):c.659G>A (p.Arg220His)	23347	SMCHD1	Uncertain significance	-1	RCV002912552;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2688412	2688412	NC_000018.9:g.2688412G>A	-
NM_015295.3(SMCHD1):c.676C>T (p.Arg226Cys)	23347	SMCHD1	Uncertain significance	rs2074100315	RCV001056796;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2688429	2688429	18:g.2688429C>T	-
NM_015295.3(SMCHD1):c.677G>A (p.Arg226His)	23347	SMCHD1	Uncertain significance	-1	RCV001967808;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2688430	2688430	2688430	-
NM_015295.3(SMCHD1):c.681T>C (p.Ser227=)	23347	SMCHD1	Likely benign	-1	RCV001457277;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2688434	2688434	2688434	-
NM_015295.3(SMCHD1):c.694A>G (p.Ile232Val)	23347	SMCHD1	Uncertain significance	rs1568143698	RCV000678456\|RCV001861859;	N	Human Phenotype Ontology:HP:0008970,MONDO:MONDO:0010884,MedGen:C0410192,OMIM:600416, Orphanet:269\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2688447	2688447	NC_000018.9:g.2688447A>G	-	C0410192 600416 Scapulohumeral muscular dystrophy;
NM_015295.3(SMCHD1):c.714G>C (p.Gly238_Gly239=)	23347	SMCHD1	Likely benign	-1	RCV003039137;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2688467	2688467	NC_000018.9:g.2688467G>C	-
NM_015295.3(SMCHD1):c.744A>G (p.Gln248=)	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs746148722	RCV000727961\|RCV001303555;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2688497	2688497	NC_000018.9:g.2688497A>G	-
NM_015295.3(SMCHD1):c.753+7A>G	23347	SMCHD1	Likely benign	-1	RCV002716555;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2688513	2688513	NC_000018.9:g.2688513A>G	-
NM_015295.3(SMCHD1):c.754-14_754-13del	23347	SMCHD1	Likely benign	-1	RCV003077986;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2688609	2688610	NC_000018.9:g.2688612_2688613del	-
NM_015295.3(SMCHD1):c.758T>C (p.Ile253Thr)	23347	SMCHD1	Uncertain significance	rs1057518622	RCV000414195\|RCV002524661;	N	MedGen:CN169374\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2688630	2688630	18:g.2688630T>C	ClinGen:CA16043148	CN169374 not specified;
NM_015295.3(SMCHD1):c.789C>T (p.His263=)	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs374899324	RCV000291817\|RCV001079065;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2688661	2688661	18:g.2688661C>T	ClinGen:CA8870641	CN169374 not specified;
NM_015295.3(SMCHD1):c.823A>G (p.Lys275Glu)	23347	SMCHD1	Uncertain significance	-1	RCV002298259;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2688695	2688695	2688695	-
NM_015295.3(SMCHD1):c.837A>G (p.Lys279_Glu280=)	23347	SMCHD1	Likely benign	-1	RCV002967556;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2688709	2688709	NC_000018.9:g.2688709A>G	-
NM_015295.3(SMCHD1):c.846A>G (p.Ile282Met)	23347	SMCHD1	Uncertain significance	rs886044033	RCV000262488\|RCV001360956;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2688718	2688718	18:g.2688718A>G	ClinGen:CA10606255	CN169374 not specified;
NM_015295.3(SMCHD1):c.853G>A (p.Gly285Arg)	23347	SMCHD1	Uncertain significance	rs1568144816	RCV000730930\|RCV001035276;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2688725	2688725	NC_000018.9:g.2688725G>A	-
NM_015295.3(SMCHD1):c.873+7dup	23347	SMCHD1	Likely benign	-1	RCV002871528;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2688751	2688752	NC_000018.9:g.2688752dup	-
NM_015295.3(SMCHD1):c.873+7T>C	23347	SMCHD1	Benign	rs114242799	RCV000312097\|RCV000528597;	N	MedGen:CN169374\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2688752	2688752	18:g.2688752T>C	ClinGen:CA8870648	C1834671 158901 Facioscapulohumeral muscular dystrophy 2;
NM_015295.3(SMCHD1):c.873+8A>T	23347	SMCHD1	Likely benign	-1	RCV002871529;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2688753	2688753	NC_000018.9:g.2688753A>T	-
NM_015295.3(SMCHD1):c.873+9C>A	23347	SMCHD1	Likely benign	-1	RCV002885211;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2688754	2688754	NC_000018.9:g.2688754C>A	-
NM_015295.3(SMCHD1):c.873+10A>T	23347	SMCHD1	Likely benign	-1	RCV002146018;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2688755	2688755	2688755	-
NM_015295.3(SMCHD1):c.873+14_873+18del	23347	SMCHD1	Likely benign	-1	RCV002149370;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2688758	2688762	2688757	-
NM_015295.3(SMCHD1):c.873+19C>T	23347	SMCHD1	Likely benign	-1	RCV002795142;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2688764	2688764	NC_000018.9:g.2688764C>T	-
NM_015295.3(SMCHD1):c.873+24_873+29del	23347	SMCHD1	Likely benign	-1	RCV002937677;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2688765	2688770	NC_000018.9:g.2688769_2688774del	-
NM_015295.3(SMCHD1):c.874-16C>G	23347	SMCHD1	Likely benign	-1	RCV003063639;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2694509	2694509	NC_000018.9:g.2694509C>G	-
NM_015295.3(SMCHD1):c.882T>C (p.Asp294_Ser295=)	23347	SMCHD1	Likely benign	-1	RCV002721947;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2694533	2694533	NC_000018.9:g.2694533T>C	-
NM_015295.3(SMCHD1):c.920A>G (p.His307Arg)	23347	SMCHD1	Uncertain significance	rs755508169	RCV000820243\|RCV000592829;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MedGen:CN517202	18	2694571	2694571	18:g.2694571A>G	ClinGen:CA8870659	CN169374 not specified;
NM_015295.3(SMCHD1):c.925C>G (p.Leu309Val)	23347	SMCHD1	Likely benign	rs569470518	RCV000595520\|RCV001454163;	N	MedGen:CN169374\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2694576	2694576	18:g.2694576C>G	ClinGen:CA8870660	CN169374 not specified;
NM_015295.3(SMCHD1):c.933A>G (p.Ile311Met)	23347	SMCHD1	Uncertain significance	-1	RCV001892817;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2694584	2694584	2694584	-
NM_015295.3(SMCHD1):c.953G>C (p.Ser318Thr)	23347	SMCHD1	Uncertain significance	rs745495716	RCV000597663\|RCV001867934;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2694604	2694604	18:g.2694604G>C	ClinGen:CA8870664	CN169374 not specified;
NM_015295.3(SMCHD1):c.954C>T (p.Ser318=)	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs769558309	RCV000729866\|RCV002060983;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2694605	2694605	NC_000018.9:g.2694605C>T	-
NM_015295.3(SMCHD1):c.963T>C (p.Ala321=)	23347	SMCHD1	Likely benign	-1	RCV002098222;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2694614	2694614	2694614	-
NM_015295.3(SMCHD1):c.985C>A (p.Pro329Thr)	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs145233420	RCV000306911\|RCV001407288;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2694636	2694636	18:g.2694636C>A	ClinGen:CA8870666	CN169374 not specified;
NM_015295.3(SMCHD1):c.990A>G (p.Glu330=)	23347	SMCHD1	Likely benign	-1	RCV002108354;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2694641	2694641	2694641	-
NM_015295.3(SMCHD1):c.994A>G (p.Ile332Val)	23347	SMCHD1	Uncertain significance	rs748848954	RCV000386739\|RCV001369038\|RCV002518117;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MeSH:D030342,MedGen:C0950123	18	2694645	2694645	18:g.2694645A>G	ClinGen:CA8870667	CN169374 not specified;
NM_015295.3(SMCHD1):c.1030C>T (p.Arg344Ter)	23347	SMCHD1	Pathogenic	rs886041918	RCV000392001\|RCV000791844;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2694681	2694681	18:g.2694681C>T	ClinGen:CA10603333	CN517202 not provided;
NM_015295.3(SMCHD1):c.1033C>G (p.Gln345Glu)	23347	SMCHD1	Uncertain significance	rs2074249757	RCV001350511;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2694684	2694684	2694684	-
NM_015295.3(SMCHD1):c.1034A>G (p.Gln345Arg)	23347	SMCHD1	Uncertain significance	rs1057519639	RCV000417316\|RCV000497013\|RCV002521501;	N	MONDO:MONDO:0011323,MedGen:C1863878,OMIM:603457, Orphanet:1135, Orphanet:2250\|Human Phenotype Ontology:HP:0000458,MONDO:MONDO:0010528,MedGen:C0003126\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2694685	2694685	NC_000018.9:g.2694685A>G	ClinGen:CA16602275,OMIM:614982.0007	C0003126 301700 Anosmia;
NM_015295.3(SMCHD1):c.1039G>A (p.Ala347Thr)	23347	SMCHD1	Uncertain significance	rs776944618	RCV000314794\|RCV001225059;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2694690	2694690	18:g.2694690G>A	ClinGen:CA8870673	CN169374 not specified;
NM_015295.3(SMCHD1):c.1040+1G>A	23347	SMCHD1	Pathogenic	rs1245372794	RCV000559900;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2694692	2694692	18:g.2694692G>A	ClinGen:CA401695240	C1834671 158901 Facioscapulohumeral muscular dystrophy 2;
NM_015295.3(SMCHD1):c.1040+11A>G	23347	SMCHD1	Likely benign	-1	RCV003118951;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2694702	2694702	NC_000018.9:g.2694702A>G	-
NM_015295.3(SMCHD1):c.1041-14C>A	23347	SMCHD1	Likely benign	-1	RCV002102578;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2697016	2697016	2697016	-
NM_015295.3(SMCHD1):c.1041-9C>T	23347	SMCHD1	Likely benign	-1	RCV002148180;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2697021	2697021	2697021	-
NM_015295.3(SMCHD1):c.1069C>T (p.Pro357Ser)	23347	SMCHD1	Uncertain significance	-1	RCV002761521;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2697058	2697058	NC_000018.9:g.2697058C>T	-
NM_015295.3(SMCHD1):c.1086A>G (p.Ile362Met)	23347	SMCHD1	Uncertain significance	rs201408220	RCV000274770\|RCV001859544;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2697075	2697075	18:g.2697075A>G	ClinGen:CA8870686	CN169374 not specified;
NM_015295.3(SMCHD1):c.1088G>A (p.Arg363Gln)	23347	SMCHD1	Uncertain significance	-1	RCV001901817\|RCV003136290;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MedGen:CN517202	18	2697077	2697077	2697077	-
NM_015295.3(SMCHD1):c.1091C>T (p.Thr364Ile)	23347	SMCHD1	Uncertain significance	-1	RCV002796852;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2697080	2697080	NC_000018.9:g.2697080C>T	-
NM_015295.3(SMCHD1):c.1126A>T (p.Ile376Phe)	23347	SMCHD1	Uncertain significance	-1	RCV002018569\|RCV002223338;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MedGen:CN517202	18	2697115	2697115	2697115	-
NM_015295.3(SMCHD1):c.1131+16A>T	23347	SMCHD1	Likely benign	-1	RCV002095778;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2697136	2697136	2697136	-
NM_015295.3(SMCHD1):c.1132-14C>T	23347	SMCHD1	Likely benign	-1	RCV002095982\|RCV002507973;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MONDO:MONDO:0011323,MedGen:C1863878,OMIM:603457, Orphanet:1135, Orphanet:2250; MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2697815	2697815	2697815	-
NM_015295.3(SMCHD1):c.1132-13C>T	23347	SMCHD1	Likely benign	-1	RCV002207917;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2697816	2697816	2697816	-
NM_015295.3(SMCHD1):c.1132-8T>C	23347	SMCHD1	Likely benign	-1	RCV002134794;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2697821	2697821	2697821	-
NM_015295.3(SMCHD1):c.1150G>T (p.Gly384Trp)	23347	SMCHD1	Uncertain significance	-1	RCV001954598;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2697847	2697847	2697847	-
NM_015295.3(SMCHD1):c.1152G>A (p.Gly384_Lys385=)	23347	SMCHD1	Likely benign	-1	RCV002770756;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2697849	2697849	NC_000018.9:g.2697849G>A	-
NM_015295.3(SMCHD1):c.1156G>A (p.Val386Ile)	23347	SMCHD1	Uncertain significance	-1	RCV001968943;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2697853	2697853	2697853	-
NM_015295.3(SMCHD1):c.1160C>T (p.Pro387Leu)	23347	SMCHD1	Uncertain significance	-1	RCV001932856;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2697857	2697857	2697857	-
NM_015295.3(SMCHD1):c.1164G>A (p.Lys388=)	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs778279069	RCV000294233\|RCV001478141;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2697861	2697861	18:g.2697861G>A	ClinGen:CA8870703	CN169374 not specified;
NM_015295.3(SMCHD1):c.1169T>A (p.Val390Asp)	23347	SMCHD1	Uncertain significance	-1	RCV002929217;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2697866	2697866	NC_000018.9:g.2697866T>A	-
NM_015295.3(SMCHD1):c.1173C>T (p.Asn391=)	23347	SMCHD1	Likely benign	-1	RCV002218133;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2697870	2697870	2697870	-
NM_015295.3(SMCHD1):c.1177A>G (p.Arg393Gly)	23347	SMCHD1	Uncertain significance	rs2074317652	RCV001236908;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2697874	2697874	18:g.2697874A>G	-
NM_015295.3(SMCHD1):c.1186C>A (p.Gln396Lys)	23347	SMCHD1	Uncertain significance	rs377471712	RCV000279024\|RCV002521994;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2697883	2697883	18:g.2697883C>A	ClinGen:CA8870710	CN169374 not specified;
NM_015295.3(SMCHD1):c.1186C>T (p.Gln396Ter)	23347	SMCHD1	Pathogenic	rs377471712	RCV000731133\|RCV002535190;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2697883	2697883	NC_000018.9:g.2697883C>T	-
NM_015295.3(SMCHD1):c.1191C>T (p.Asp397=)	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs535674229	RCV000405521\|RCV002059306;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2697888	2697888	18:g.2697888C>T	ClinGen:CA8870711	CN169374 not specified;
NM_015295.3(SMCHD1):c.1202C>T (p.Thr401Met)	23347	SMCHD1	Uncertain significance	rs1555632935	RCV000555889;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2697899	2697899	NC_000018.9:g.2697899C>T	ClinGen:CA401697270	C1834671 158901 Facioscapulohumeral muscular dystrophy 2;
NM_015295.3(SMCHD1):c.1203G>A (p.Thr401=)	23347	SMCHD1	Likely benign	-1	RCV002082874;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2697900	2697900	2697900	-
NM_015295.3(SMCHD1):c.1218A>G (p.Thr406=)	23347	SMCHD1	Likely benign	-1	RCV001504194;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2697915	2697915	2697915	-
NM_015295.3(SMCHD1):c.1239C>T (p.Phe413=)	23347	SMCHD1	Likely benign	-1	RCV002111354;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2697936	2697936	2697936	-
NM_015295.3(SMCHD1):c.1247A>G (p.His416Arg)	23347	SMCHD1	Uncertain significance	rs2074319161	RCV001216871;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2697944	2697944	18:g.2697944A>G	-
NM_015295.3(SMCHD1):c.1282del (p.Arg428fs)	23347	SMCHD1	Pathogenic	-1	RCV001897866;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2697978	2697978	2697977	-
NM_015295.3(SMCHD1):c.1283G>A (p.Arg428His)	23347	SMCHD1	Uncertain significance	-1	RCV001933609;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2697980	2697980	2697980	-
NM_015295.3(SMCHD1):c.1290T>C (p.His430=)	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs376328601	RCV000403970\|RCV001083675;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2697987	2697987	18:g.2697987T>C	ClinGen:CA8870718	CN169374 not specified;
NM_015295.3(SMCHD1):c.1297T>C (p.Leu433=)	23347	SMCHD1	Likely benign	-1	RCV002168335;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2697994	2697994	2697994	-
NM_015295.3(SMCHD1):c.1302_1306del (p.Tyr434_Arg436delinsTer)	23347	SMCHD1	Pathogenic	rs387907319	RCV000033082;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2697996	2698000	18:g.2697996_2698000del	ClinGen:CA261230,OMIM:614982.0001	C1834671 158901 Facioscapulohumeral muscular dystrophy 2;
NM_015295.3(SMCHD1):c.1304A>G (p.Asp435Gly)	23347	SMCHD1	Uncertain significance	-1	RCV002294827\|RCV003108007;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MedGen:CN517202	18	2698001	2698001	2698001	-
NM_015295.3(SMCHD1):c.1314_1317del (p.Tyr439fs)	23347	SMCHD1	Pathogenic	-1	RCV003049848;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2698009	2698012	NC_000018.9:g.2698011_2698014del	-
NM_015295.3(SMCHD1):c.1320T>C (p.Pro440=)	23347	SMCHD1	Likely benign	-1	RCV001460384;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2698017	2698017	2698017	-
NM_015295.3(SMCHD1):c.1326T>G (p.Asp442Glu)	23347	SMCHD1	Uncertain significance	rs199596161	RCV000822145;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2698023	2698023	18:g.2698023T>G	-
NM_015295.3(SMCHD1):c.1329A>G (p.Pro443=)	23347	SMCHD1	Likely benign	rs374141580	RCV002542246;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2698026	2698026	18:g.2698026A>G	-
NM_015295.3(SMCHD1):c.1330T>G (p.Cys444Gly)	23347	SMCHD1	Uncertain significance	-1	RCV002299229\|RCV002511156;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MedGen:CN517202	18	2698027	2698027	2698027	-
NM_015295.3(SMCHD1):c.1339T>A (p.Ser447Thr)	23347	SMCHD1	Uncertain significance	rs1325548788	RCV001208936;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2698036	2698036	18:g.2698036T>A	-
NM_015295.3(SMCHD1):c.1343-19A>G	23347	SMCHD1	Likely benign	-1	RCV003083536;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2700518	2700518	NC_000018.9:g.2700518A>G	-
NM_015295.3(SMCHD1):c.1343-15G>A	23347	SMCHD1	Likely benign	-1	RCV002650117;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2700522	2700522	NC_000018.9:g.2700522G>A	-
NM_015295.3(SMCHD1):c.1343-7G>C	23347	SMCHD1	Likely benign	-1	RCV003087271;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2700530	2700530	NC_000018.9:g.2700530G>C	-
NM_015295.3(SMCHD1):c.1343-4C>T	23347	SMCHD1	Likely benign	-1	RCV001482001;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2700533	2700533	2700533	-
NM_015295.3(SMCHD1):c.1382T>C (p.Leu461Pro)	23347	SMCHD1	Uncertain significance	-1	RCV002299734;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2700576	2700576	2700576	-
NM_015295.3(SMCHD1):c.1390G>T (p.Ala464Ser)	23347	SMCHD1	Uncertain significance	rs752328609	RCV000274923\|RCV000697318;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2700584	2700584	18:g.2700584G>T	ClinGen:CA8870738	C1834671 158901 Facioscapulohumeral muscular dystrophy 2;
NM_015295.3(SMCHD1):c.1395T>C (p.Ala465_Arg466=)	23347	SMCHD1	Likely benign	-1	RCV003078978;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2700589	2700589	NC_000018.9:g.2700589T>C	-
NM_015295.3(SMCHD1):c.1396A>T (p.Arg466Ter)	23347	SMCHD1	Pathogenic	-1	RCV001972732;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2700590	2700590	2700590	-
NM_015295.3(SMCHD1):c.1419A>G (p.Glu473=)	23347	SMCHD1	Benign/Likely benign	rs117771893	RCV000242888\|RCV000639714\|RCV001786350;	N	MedGen:CN169374\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MedGen:CN517202	18	2700613	2700613	NC_000018.9:g.2700613A>G	ClinGen:CA8870739	C1834671 158901 Facioscapulohumeral muscular dystrophy 2;
NM_015295.3(SMCHD1):c.1446A>G (p.Pro482=)	23347	SMCHD1	Likely benign	-1	RCV001432268;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2700640	2700640	2700640	-
NM_015295.3(SMCHD1):c.1463+7_1463+8dup	23347	SMCHD1	Likely benign	-1	RCV003015458;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2700662	2700663	NC_000018.9:g.2700664_2700665dup	-
NM_015295.3(SMCHD1):c.1463+10A>G	23347	SMCHD1	Conflicting interpretations of pathogenicity	-1	RCV002252869\|RCV003094108;	N	\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2700667	2700667	2700667	-
NM_015295.3(SMCHD1):c.1464-15T>G	23347	SMCHD1	Likely benign	-1	RCV002089722;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2700718	2700718	2700718	-
NM_015295.3(SMCHD1):c.1464-9C>T	23347	SMCHD1	Likely benign	-1	RCV003106612;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2700724	2700724	NC_000018.9:g.2700724C>T	-
NM_015295.3(SMCHD1):c.1479T>C (p.Thr493=)	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs755868793	RCV000595487\|RCV001479983;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2700748	2700748	18:g.2700748T>C	ClinGen:CA8870746	CN169374 not specified;
NM_015295.3(SMCHD1):c.1502C>T (p.Ala501Val)	23347	SMCHD1	Uncertain significance	-1	RCV003066241;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2700771	2700771	NC_000018.9:g.2700771C>T	-
NM_015295.3(SMCHD1):c.1503A>G (p.Ala501_Pro502=)	23347	SMCHD1	Likely benign	-1	RCV002838435;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2700772	2700772	NC_000018.9:g.2700772A>G	-
NM_015295.3(SMCHD1):c.1507A>G (p.Ile503Val)	23347	SMCHD1	Uncertain significance	-1	RCV003114863;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2700776	2700776	NC_000018.9:g.2700776A>G	-
NM_015295.3(SMCHD1):c.1525A>G (p.Ile509Val)	23347	SMCHD1	Uncertain significance	rs1598335785	RCV000791959;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2700794	2700794	18:g.2700794A>G	-
NM_015295.3(SMCHD1):c.1532G>A (p.Gly511Asp)	23347	SMCHD1	Uncertain significance	-1	RCV002810337;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2700801	2700801	NC_000018.9:g.2700801G>A	-
NM_015295.3(SMCHD1):c.1535C>T (p.Ala512Val)	23347	SMCHD1	Uncertain significance	-1	RCV002640268;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2700804	2700804	NC_000018.9:g.2700804C>T	-
NM_015295.3(SMCHD1):c.1565G>A (p.Ser522Asn)	23347	SMCHD1	Uncertain significance	rs2074384298	RCV001348347;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2700834	2700834	2700834	-
NM_015295.3(SMCHD1):c.1580C>T (p.Thr527Met)	23347	SMCHD1	Uncertain significance	rs397518422	RCV000074384;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2700849	2700849	18:g.2700849C>T	ClinGen:CA266197,OMIM:614982.0006	C1834671 158901 Facioscapulohumeral muscular dystrophy 2;
NM_015295.3(SMCHD1):c.1581G>A (p.Thr527=)	23347	SMCHD1	Likely benign	-1	RCV001431546;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2700850	2700850	2700850	-
NM_015295.3(SMCHD1):c.1608del (p.Asp537fs)	23347	SMCHD1	Pathogenic	rs1057519614	RCV000033084;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2700875	2700875	18:g.2700875_2700875del	ClinGen:CA16602247,OMIM:614982.0003	C1834671 158901 Facioscapulohumeral muscular dystrophy 2;
NM_015295.3(SMCHD1):c.1608A>G (p.Lys536=)	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs72862973	RCV000247697\|RCV000725463\|RCV001079432;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2700877	2700877	18:g.2700877A>G	ClinGen:CA8870756	C1834671 158901 Facioscapulohumeral muscular dystrophy 2;
NM_015295.3(SMCHD1):c.1647+3A>G	23347	SMCHD1	Pathogenic	-1	RCV001927967;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2700919	2700919	2700919	-
NM_015295.3(SMCHD1):c.1647+16A>G	23347	SMCHD1	Likely benign	-1	RCV001889730;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2700932	2700932	2700932	-
NM_015295.3(SMCHD1):c.1648-4_1648-3delinsTT	23347	SMCHD1	Uncertain significance	-1	RCV001952869;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2703686	2703687	2703686	-
NM_015295.3(SMCHD1):c.1654C>T (p.Arg552Ter)	23347	SMCHD1	Pathogenic	rs1224850132	RCV001212601\|RCV001780128;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MedGen:CN517202	18	2703696	2703696	18:g.2703696C>T	-
NM_015295.3(SMCHD1):c.1689G>A (p.Leu563=)	23347	SMCHD1	Benign/Likely benign	rs78073508	RCV000252856\|RCV000713379\|RCV001087744;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2703731	2703731	18:g.2703731G>A	ClinGen:CA8870778	CN169374 not specified;
NM_015295.3(SMCHD1):c.1717_1720del (p.Lys572_Gln573insTer)	23347	SMCHD1	Likely pathogenic	-1	RCV002289426;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2703756	2703759	2703755	-
NM_015295.3(SMCHD1):c.1718A>C (p.Gln573Pro)	23347	SMCHD1	Uncertain significance	-1	RCV002038833;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2703760	2703760	2703760	-
NM_015295.3(SMCHD1):c.1731A>G (p.Thr577=)	23347	SMCHD1	Benign	rs369778016	RCV000875982\|RCV001510489;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2703773	2703773	18:g.2703773A>G	-
NM_015295.3(SMCHD1):c.1757C>T (p.Pro586Leu)	23347	SMCHD1	Uncertain significance	-1	RCV003039188;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2703799	2703799	NC_000018.9:g.2703799C>T	-
NM_015295.3(SMCHD1):c.1784C>T (p.Pro595Leu)	23347	SMCHD1	Uncertain significance	-1	RCV002028575;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2703826	2703826	2703826	-
NM_015295.3(SMCHD1):c.1793C>T (p.Thr598Ile)	23347	SMCHD1	Uncertain significance	-1	RCV002750766;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2703835	2703835	NC_000018.9:g.2703835C>T	-
NM_015295.3(SMCHD1):c.1802C>G (p.Ala601Gly)	23347	SMCHD1	Uncertain significance	-1	RCV003032974;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2703844	2703844	NC_000018.9:g.2703844C>G	-
NM_015295.3(SMCHD1):c.1807G>A (p.Glu603Lys)	23347	SMCHD1	Uncertain significance	-1	RCV002039018;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2703849	2703849	2703849	-
NM_015295.3(SMCHD1):c.1818A>G (p.Gly606=)	23347	SMCHD1	Likely benign	-1	RCV001966005;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2703860	2703860	2703860	-
NM_015295.3(SMCHD1):c.1824A>G (p.Ile608Met)	23347	SMCHD1	Uncertain significance	rs577011893	RCV000732212\|RCV002535259;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2703866	2703866	NC_000018.9:g.2703866A>G	-
NM_015295.3(SMCHD1):c.1829A>G (p.Lys610Arg)	23347	SMCHD1	Uncertain significance	-1	RCV003081754;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2703871	2703871	NC_000018.9:g.2703871A>G	-
NM_015295.3(SMCHD1):c.1843-19T>A	23347	SMCHD1	Likely benign	-1	RCV002144835;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2705673	2705673	2705673	-
NM_015295.3(SMCHD1):c.1843-18T>A	23347	SMCHD1	Benign/Likely benign	-1	RCV001732550\|RCV002073971;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2705674	2705674	2705674	-
NM_015295.3(SMCHD1):c.1843-18_1843-17insA	23347	SMCHD1	Likely benign	-1	RCV002140434;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2705674	2705675	2705674	-
NM_015295.3(SMCHD1):c.1843-18_1843-17inv	23347	SMCHD1	Likely benign	-1	RCV002077630;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2705674	2705675	2705674	-
NM_015295.3(SMCHD1):c.1843-17T>A	23347	SMCHD1	Benign	-1	RCV001638850\|RCV001810162\|RCV002072956;	N	MedGen:CN517202\|MONDO:MONDO:0011323,MedGen:C1863878,OMIM:603457, Orphanet:1135, Orphanet:2250\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2705675	2705675	2705675	-
NM_015295.3(SMCHD1):c.1843-12dup	23347	SMCHD1	Likely benign	-1	RCV002166051;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2705675	2705676	2705675	-
NM_015295.3(SMCHD1):c.1843-16A>G	23347	SMCHD1	Likely benign	-1	RCV002194794;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2705676	2705676	2705676	-
NM_015295.3(SMCHD1):c.1843-16A>T	23347	SMCHD1	Likely benign	-1	RCV002088962;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2705676	2705676	2705676	-
NM_015295.3(SMCHD1):c.1843-12del	23347	SMCHD1	Benign	-1	RCV002800435;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2705676	2705676	NC_000018.9:g.2705680del	-
NM_015295.3(SMCHD1):c.1843-8_1843-5del	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs765362255	RCV000299724\|RCV001398839;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2705684	2705687	18:g.2705682_2705685del	ClinGen:CA8870825	CN169374 not specified;
NM_015295.3(SMCHD1):c.1844T>G (p.Val615Gly)	23347	SMCHD1	Uncertain significance	-1	RCV002002706;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2705693	2705693	2705693	-
NM_015295.3(SMCHD1):c.1851A>G (p.Thr617=)	23347	SMCHD1	Benign	rs635132	RCV000246579\|RCV001510267\|RCV001651209\|RCV001808707;	N	MedGen:CN169374\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MedGen:CN517202\|MONDO:MONDO:0011323,MedGen:C1863878,OMIM:603457, Orphanet:1135, Orphanet:2250	18	2705700	2705700	NC_000018.9:g.2705700A>G	ClinGen:CA8870826	CN169374 not specified;
NM_015295.3(SMCHD1):c.1886dup (p.Arg630fs)	23347	SMCHD1	Pathogenic	-1	RCV001381052;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2705734	2705735	2705734	-
NM_015295.3(SMCHD1):c.1905C>T (p.Gly635=)	23347	SMCHD1	Uncertain significance	rs770290837	RCV000403687\|RCV001855175;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2705754	2705754	18:g.2705754C>T	ClinGen:CA8870828	CN169374 not specified;
NM_015295.3(SMCHD1):c.1907A>T (p.Asp636Val)	23347	SMCHD1	Uncertain significance	-1	RCV002303482;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2705756	2705756	2705756	-
NM_015295.3(SMCHD1):c.1910A>G (p.His637Arg)	23347	SMCHD1	Uncertain significance	rs920418184	RCV001054519;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2705759	2705759	18:g.2705759A>G	-
NM_015295.3(SMCHD1):c.1911T>C (p.His637=)	23347	SMCHD1	Likely benign	-1	RCV002148026;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2705760	2705760	2705760	-
NM_015295.3(SMCHD1):c.1913A>T (p.Asp638Val)	23347	SMCHD1	Uncertain significance	-1	RCV002025863;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2705762	2705762	2705762	-
NM_015295.3(SMCHD1):c.1915G>A (p.Gly639Arg)	23347	SMCHD1	Uncertain significance	-1	RCV002042551;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2705764	2705764	2705764	-
NM_015295.3(SMCHD1):c.1930A>G (p.Thr644Ala)	23347	SMCHD1	Uncertain significance	-1	RCV001968954;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2705779	2705779	2705779	-
NM_015295.3(SMCHD1):c.1932A>T (p.Thr644=)	23347	SMCHD1	Likely benign	rs930570856	RCV000966538;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2705781	2705781	18:g.2705781A>T	-
NM_015295.3(SMCHD1):c.1947A>G (p.Gln649=)	23347	SMCHD1	Likely benign	rs201805227	RCV000950509\|RCV001444395;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2705796	2705796	18:g.2705796A>G	-
NM_015295.3(SMCHD1):c.1956+7C>T	23347	SMCHD1	Benign/Likely benign	rs145755468	RCV000251342\|RCV000540106;	N	MedGen:CN169374\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2705812	2705812	18:g.2705812C>T	ClinGen:CA8870837	C1834671 158901 Facioscapulohumeral muscular dystrophy 2;
NM_015295.3(SMCHD1):c.1957-3C>T	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs201069969	RCV000243542\|RCV000725674\|RCV001088378;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2706359	2706359	18:g.2706359C>T	ClinGen:CA8870852	CN169374 not specified;
NM_015295.3(SMCHD1):c.1971A>G (p.Leu657=)	23347	SMCHD1	Uncertain significance	rs763782013	RCV000811862;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2706376	2706376	18:g.2706376A>G	-
NM_015295.3(SMCHD1):c.1975G>A (p.Asp659Asn)	23347	SMCHD1	Uncertain significance	-1	RCV003054732;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2706380	2706380	NC_000018.9:g.2706380G>A	-
NM_015295.3(SMCHD1):c.1980A>G (p.Glu660_Val661=)	23347	SMCHD1	Uncertain significance	-1	RCV002807159;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2706385	2706385	NC_000018.9:g.2706385A>G	-
NM_015295.3(SMCHD1):c.1996A>G (p.Ile666Val)	23347	SMCHD1	Uncertain significance	rs529127480	RCV000595563\|RCV001069678;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2706401	2706401	18:g.2706401A>G	ClinGen:CA8870857	CN169374 not specified;
NM_015295.3(SMCHD1):c.2004G>A (p.Lys668_Leu669=)	23347	SMCHD1	Likely benign	-1	RCV003005941;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2706409	2706409	NC_000018.9:g.2706409G>A	-
NM_015295.3(SMCHD1):c.2008G>T (p.Asp670Tyr)	23347	SMCHD1	Likely pathogenic	-1	RCV001730113;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2706413	2706413	2706413	-
NM_015295.3(SMCHD1):c.2021C>G (p.Ala674Gly)	23347	SMCHD1	Uncertain significance	-1	RCV001999430;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2706426	2706426	2706426	-
NM_015295.3(SMCHD1):c.2025G>A (p.Glu675=)	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs766575963	RCV000592431\|RCV002065180;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2706430	2706430	18:g.2706430G>A	ClinGen:CA8870859	CN169374 not specified;
NM_015295.3(SMCHD1):c.2033T>A (p.Val678Asp)	23347	SMCHD1	Uncertain significance	-1	RCV002904593\|RCV003138390;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MedGen:CN517202	18	2706438	2706438	NC_000018.9:g.2706438T>A	-
NM_015295.3(SMCHD1):c.2043T>C (p.Tyr681_Val682=)	23347	SMCHD1	Likely benign	-1	RCV003104204;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2706448	2706448	NC_000018.9:g.2706448T>C	-
NM_015295.3(SMCHD1):c.2063+19T>C	23347	SMCHD1	Likely benign	-1	RCV002832765;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2706487	2706487	NC_000018.9:g.2706487T>C	-
NM_015295.3(SMCHD1):c.2063+20G>T	23347	SMCHD1	Likely benign	rs368528253	RCV000248293\|RCV002055050;	N	MedGen:CN169374\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2706488	2706488	NC_000018.9:g.2706488G>T	ClinGen:CA8870867	CN169374 not specified;
NM_015295.3(SMCHD1):c.2064-20A>G	23347	SMCHD1	Uncertain significance	-1	RCV001896046;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2707541	2707541	2707541	-
NM_015295.3(SMCHD1):c.2064-9T>C	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs376058538	RCV000733403\|RCV002067151;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2707552	2707552	NC_000018.9:g.2707552T>C	-
NM_015295.3(SMCHD1):c.2064-8C>T	23347	SMCHD1	Likely benign	-1	RCV003049596;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2707553	2707553	NC_000018.9:g.2707553C>T	-
NM_015295.3(SMCHD1):c.2067C>T (p.Leu689=)	23347	SMCHD1	Likely benign	-1	RCV002172208;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2707564	2707564	2707564	-
NM_015295.3(SMCHD1):c.2068C>T (p.Pro690Ser)	23347	SMCHD1	Pathogenic	rs397514623	RCV000033083;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2707565	2707565	18:g.2707565C>T	UniProtKB:A6NHR9#VAR_069070,ClinGen:CA261232,OMIM:614982.0002	C1834671 158901 Facioscapulohumeral muscular dystrophy 2;
NM_015295.3(SMCHD1):c.2078dup (p.Leu693fs)	23347	SMCHD1	Pathogenic	-1	RCV001892299;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2707573	2707574	2707573	-
NM_015295.3(SMCHD1):c.2109A>G (p.Leu703_Leu704=)	23347	SMCHD1	Likely benign	-1	RCV003036425;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2707606	2707606	NC_000018.9:g.2707606A>G	-
NM_015295.3(SMCHD1):c.2122G>A (p.Val708Ile)	23347	SMCHD1	Benign	rs2276092	RCV000251853\|RCV001510268\|RCV001683079\|RCV001808708;	N	MedGen:CN169374\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MedGen:CN517202\|MONDO:MONDO:0011323,MedGen:C1863878,OMIM:603457, Orphanet:1135, Orphanet:2250	18	2707619	2707619	NC_000018.9:g.2707619G>A	UniProtKB:A6NHR9#VAR_042959,ClinGen:CA8870890	CN169374 not specified;
NM_015295.3(SMCHD1):c.2129dup (p.Ala711fs)	23347	SMCHD1	Pathogenic	rs2074549354	RCV001310241;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2707624	2707625	2707624	OMIM:614982.0019
NM_015295.3(SMCHD1):c.2140C>G (p.Pro714Ala)	23347	SMCHD1	Uncertain significance	-1	RCV003104217;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2707637	2707637	NC_000018.9:g.2707637C>G	-
NM_015295.3(SMCHD1):c.2142T>A (p.Pro714=)	23347	SMCHD1	Likely benign	-1	RCV002114924;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2707639	2707639	2707639	-
NM_015295.3(SMCHD1):c.2146+4T>C	23347	SMCHD1	Uncertain significance	-1	RCV002751455;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2707647	2707647	NC_000018.9:g.2707647T>C	-
NM_015295.3(SMCHD1):c.2147-16A>G	23347	SMCHD1	Likely benign	-1	RCV003060971;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2707789	2707789	NC_000018.9:g.2707789A>G	-
NM_015295.3(SMCHD1):c.2147-14T>C	23347	SMCHD1	Likely benign	-1	RCV002209998;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2707791	2707791	2707791	-
NM_015295.3(SMCHD1):c.2147-7C>T	23347	SMCHD1	Benign/Likely benign	rs113524119	RCV000243652\|RCV000554867\|RCV002244631;	N	MedGen:CN169374\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MedGen:CN517202	18	2707798	2707798	18:g.2707798C>T	ClinGen:CA8870908	C1834671 158901 Facioscapulohumeral muscular dystrophy 2;
NM_015295.3(SMCHD1):c.2147-5C>T	23347	SMCHD1	Benign	rs184984483	RCV000597803\|RCV000874772\|RCV002065150;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2707800	2707800	18:g.2707800C>T	ClinGen:CA8870909	CN169374 not specified;
NM_015295.3(SMCHD1):c.2151G>A (p.Ala717=)	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs372945746	RCV000596302\|RCV001087067;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2707809	2707809	18:g.2707809G>A	ClinGen:CA8870911	C1834671 158901 Facioscapulohumeral muscular dystrophy 2;
NM_015295.3(SMCHD1):c.2152T>C (p.Leu718=)	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs112500113	RCV000306893\|RCV001088679;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2707810	2707810	18:g.2707810T>C	ClinGen:CA8870912	CN169374 not specified;
NM_015295.3(SMCHD1):c.2154A>G (p.Leu718=)	23347	SMCHD1	Likely benign	-1	RCV002151465;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2707812	2707812	2707812	-
NM_015295.3(SMCHD1):c.2169G>A (p.Leu723=)	23347	SMCHD1	Likely benign	-1	RCV001425157;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2707827	2707827	2707827	-
NM_015295.3(SMCHD1):c.2178_2179del (p.Glu728fs)	23347	SMCHD1	Pathogenic	rs2074555124	RCV001202061;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2707836	2707837	18:g.2707836_2707837del	-
NM_015295.3(SMCHD1):c.2179G>A (p.Gly727Arg)	23347	SMCHD1	Uncertain significance	-1	RCV001993462;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2707837	2707837	2707837	-
NM_015295.3(SMCHD1):c.2192A>C (p.Gln731Pro)	23347	SMCHD1	Uncertain significance	-1	RCV003046088;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2707850	2707850	NC_000018.9:g.2707850A>C	-
NM_015295.3(SMCHD1):c.2206A>G (p.Thr736Ala)	23347	SMCHD1	Uncertain significance	-1	RCV002726788;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2707864	2707864	NC_000018.9:g.2707864A>G	-
NM_015295.3(SMCHD1):c.2241G>T (p.Glu747Asp)	23347	SMCHD1	Uncertain significance	-1	RCV002624944;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2707899	2707899	NC_000018.9:g.2707899G>T	-
NM_015295.3(SMCHD1):c.2260+3A>G	23347	SMCHD1	Uncertain significance	-1	RCV002917389\|RCV003138383;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MedGen:CN517202	18	2707921	2707921	NC_000018.9:g.2707921A>G	-
NM_015295.3(SMCHD1):c.2260+6T>C	23347	SMCHD1	Uncertain significance	-1	RCV002026839;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2707924	2707924	2707924	-
NM_015295.3(SMCHD1):c.2260+7A>G	23347	SMCHD1	Likely benign	-1	RCV002086481;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2707925	2707925	2707925	-
NM_015295.3(SMCHD1):c.2260+12A>G	23347	SMCHD1	Likely benign	-1	RCV002881099;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2707930	2707930	NC_000018.9:g.2707930A>G	-
NC_000018.9:g.(?_2718136)_(2718452_?)del	23347	SMCHD1	Uncertain significance	-1	RCV001996916;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2718136	2718452	-1	-
NC_000018.9:g.(?_2718136)_(2743946_?)dup	23347	SMCHD1	Likely pathogenic	-1	RCV003119572;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2718136	2743946		-
NM_015295.3(SMCHD1):c.2261-18C>G	23347	SMCHD1	Likely benign	-1	RCV002209895;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2718138	2718138	2718138	-
NM_015295.3(SMCHD1):c.2261-12T>C	23347	SMCHD1	Likely benign	-1	RCV002130921;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2718144	2718144	2718144	-
NM_015295.3(SMCHD1):c.2261-7T>C	23347	SMCHD1	Likely benign	rs1598360357	RCV000978065;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2718149	2718149	18:g.2718149T>C	-
NM_015295.3(SMCHD1):c.2280G>A (p.Glu760_Ile761=)	23347	SMCHD1	Likely benign	-1	RCV002839537;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2718175	2718175	NC_000018.9:g.2718175G>A	-
NM_015295.3(SMCHD1):c.2283T>A (p.Ile761=)	23347	SMCHD1	Likely benign	-1	RCV002213701;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2718178	2718178	2718178	-
NM_015295.3(SMCHD1):c.2289G>A (p.Ser763=)	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs58683258	RCV000598097\|RCV001443023;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2718184	2718184	18:g.2718184G>A	ClinGen:CA8870942	CN169374 not specified;
NM_015295.3(SMCHD1):c.2289G>T (p.Ser763_His764=)	23347	SMCHD1	Likely benign	-1	RCV002710788;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2718184	2718184	NC_000018.9:g.2718184G>T	-
NM_015295.3(SMCHD1):c.2301A>G (p.Gln767_His768=)	23347	SMCHD1	Likely benign	-1	RCV003112661;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2718196	2718196	NC_000018.9:g.2718196A>G	-
NM_015295.3(SMCHD1):c.2338+17A>C	23347	SMCHD1	Likely benign	-1	RCV002858676;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2718250	2718250	NC_000018.9:g.2718250A>C	-
NM_015295.3(SMCHD1):c.2353T>C (p.Leu785=)	23347	SMCHD1	Likely benign	rs371760133	RCV002542230;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2718327	2718327	18:g.2718327T>C	-
NM_015295.3(SMCHD1):c.2358G>T (p.Gly786_Asn787=)	23347	SMCHD1	Likely benign	-1	RCV002912805;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2718332	2718332	NC_000018.9:g.2718332G>T	-
NM_015295.3(SMCHD1):c.2401G>A (p.Ala801Thr)	23347	SMCHD1	Uncertain significance	-1	RCV002640590;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2718375	2718375	NC_000018.9:g.2718375G>A	-
NM_015295.3(SMCHD1):c.2408C>G (p.Thr803Ser)	23347	SMCHD1	Uncertain significance	-1	RCV002633160;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2718382	2718382	NC_000018.9:g.2718382C>G	-
NM_015295.3(SMCHD1):c.2411A>T (p.Tyr804Phe)	23347	SMCHD1	Uncertain significance	-1	RCV002667233;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2718385	2718385	NC_000018.9:g.2718385A>T	-
NM_015295.3(SMCHD1):c.2424A>C (p.Pro808=)	23347	SMCHD1	Likely benign	rs374039360	RCV002065155\|RCV000591162;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MedGen:CN169374	18	2718398	2718398	18:g.2718398A>C	ClinGen:CA8870962	CN169374 not specified;
NM_015295.3(SMCHD1):c.2433T>G (p.Ser811=)	23347	SMCHD1	Likely benign	rs760899591	RCV000875031\|RCV002064790;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2718407	2718407	18:g.2718407T>G	-
NM_015295.3(SMCHD1):c.2458+18A>G	23347	SMCHD1	Likely benign	-1	RCV002074850;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2718450	2718450	2718450	-
NM_015295.3(SMCHD1):c.2458+19T>C	23347	SMCHD1	Likely benign	-1	RCV002628818;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2718451	2718451	NC_000018.9:g.2718451T>C	-
NM_015295.3(SMCHD1):c.2458+20A>G	23347	SMCHD1	Likely benign	-1	RCV003115709;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2718452	2718452	NC_000018.9:g.2718452A>G	-
NM_015295.3(SMCHD1):c.2459-12T>C	23347	SMCHD1	Likely benign	-1	RCV002746008;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2722505	2722505	NC_000018.9:g.2722505T>C	-
NM_015295.3(SMCHD1):c.2459-9T>C	23347	SMCHD1	Likely benign	-1	RCV002162027;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2722508	2722508	2722508	-
NM_015295.3(SMCHD1):c.2485G>C (p.Gly829Arg)	23347	SMCHD1	Uncertain significance	-1	RCV003014771;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2722543	2722543	NC_000018.9:g.2722543G>C	-
NM_015295.3(SMCHD1):c.2506C>T (p.Arg836Cys)	23347	SMCHD1	Uncertain significance	rs777201756	RCV000798667;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2722564	2722564	18:g.2722564C>T	-
NM_015295.3(SMCHD1):c.2520A>G (p.Pro840=)	23347	SMCHD1	Likely benign	rs1445022098	RCV000890497\|RCV001474624;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2722578	2722578	18:g.2722578A>G	-
NM_015295.3(SMCHD1):c.2529C>T (p.Ile843_Pro844=)	23347	SMCHD1	Likely benign	-1	RCV003001879;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2722587	2722587	NC_000018.9:g.2722587C>T	-
NM_015295.3(SMCHD1):c.2532T>G (p.Pro844=)	23347	SMCHD1	Likely benign	-1	RCV002089758;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2722590	2722590	2722590	-
NM_015295.3(SMCHD1):c.2533C>G (p.Leu845Val)	23347	SMCHD1	Uncertain significance	-1	RCV002043920;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2722591	2722591	2722591	-
NM_015295.3(SMCHD1):c.2568A>T (p.Gln856His)	23347	SMCHD1	Uncertain significance	rs1568235257	RCV001244922;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2722626	2722626	18:g.2722626A>T	-
NM_015295.3(SMCHD1):c.2603+16A>G	23347	SMCHD1	Likely benign	-1	RCV002132632;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2722677	2722677	2722677	-
NM_015295.3(SMCHD1):c.2604-19A>G	23347	SMCHD1	Likely benign	-1	RCV002117642;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2724878	2724878	2724878	-
NM_015295.3(SMCHD1):c.2604-7del	23347	SMCHD1	Benign/Likely benign	rs142973168	RCV000248834\|RCV002058260;	N	MedGen:CN169374\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2724883	2724883	NC_000018.9:g.2724890del	ClinGen:CA8871018	CN169374 not specified;
NM_015295.3(SMCHD1):c.2604-14T>C	23347	SMCHD1	Likely benign	-1	RCV002093421;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2724883	2724883	2724883	-
NM_015295.3(SMCHD1):c.2604-12T>G	23347	SMCHD1	Likely benign	-1	RCV002119014;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2724885	2724885	2724885	-
NM_015295.3(SMCHD1):c.2604-7T>C	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs751707679	RCV000730308\|RCV002535149;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2724890	2724890	NC_000018.9:g.2724890T>C	-
NM_015295.3(SMCHD1):c.2604-5C>T	23347	SMCHD1	Likely benign	-1	RCV002570312;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2724892	2724892	NC_000018.9:g.2724892C>T	-
NM_015295.3(SMCHD1):c.2604T>C (p.Ser868=)	23347	SMCHD1	Uncertain significance	-1	RCV001986699;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2724897	2724897	2724897	-
NM_015295.3(SMCHD1):c.2605G>A (p.Gly869Ser)	23347	SMCHD1	Uncertain significance	rs757305853	RCV001228508;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2724898	2724898	18:g.2724898G>A	-
NM_015295.3(SMCHD1):c.2606G>T (p.Gly869Val)	23347	SMCHD1	Uncertain significance	rs548397345	RCV000729822\|RCV001862184;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2724899	2724899	NC_000018.9:g.2724899G>T	-
NM_015295.3(SMCHD1):c.2612C>A (p.Ser871Tyr)	23347	SMCHD1	Uncertain significance	rs372975122	RCV000317493\|RCV000795289;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2724905	2724905	18:g.2724905C>A	ClinGen:CA8871025	CN169374 not specified;
NM_015295.3(SMCHD1):c.2616A>T (p.Leu872Phe)	23347	SMCHD1	Uncertain significance	-1	RCV001953237;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2724909	2724909	2724909	-
NM_015295.3(SMCHD1):c.2635A>G (p.Lys879Glu)	23347	SMCHD1	Uncertain significance	-1	RCV002029139;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2724928	2724928	2724928	-
NM_015295.3(SMCHD1):c.2637A>T (p.Lys879Asn)	23347	SMCHD1	Benign	rs633422	RCV000253585\|RCV000993031\|RCV001517101;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2724930	2724930	18:g.2724930A>T	UniProtKB:A6NHR9#VAR_042960,ClinGen:CA8871027	CN169374 not specified;
NM_015295.3(SMCHD1):c.2637A>C (p.Lys879Asn)	23347	SMCHD1	Uncertain significance	rs633422	RCV000366138\|RCV002521894;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2724930	2724930	18:g.2724930A>C	UniProtKB:A6NHR9#VAR_042960,ClinGen:CA8871028	CN169374 not specified;
NM_015295.3(SMCHD1):c.2657G>A (p.Arg886Gln)	23347	SMCHD1	Uncertain significance	-1	RCV001877668;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2724950	2724950	2724950	-
NM_015295.3(SMCHD1):c.2660G>C (p.Gly887Ala)	23347	SMCHD1	Uncertain significance	rs1460743863	RCV000533451\|RCV000596750;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MedGen:CN517202	18	2724953	2724953	18:g.2724953G>C	ClinGen:CA401682161	C1834671 158901 Facioscapulohumeral muscular dystrophy 2;
NM_015295.3(SMCHD1):c.2664T>C (p.Val888_Thr889=)	23347	SMCHD1	Likely benign	-1	RCV002852144;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2724957	2724957	NC_000018.9:g.2724957T>C	-
NM_015295.3(SMCHD1):c.2668G>A (p.Ala890Thr)	23347	SMCHD1	Uncertain significance	-1	RCV002736797;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2724961	2724961	NC_000018.9:g.2724961G>A	-
NM_015295.3(SMCHD1):c.2688T>G (p.Ser896_Cys897=)	23347	SMCHD1	Conflicting interpretations of pathogenicity	-1	RCV002474462\|RCV002571529;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2724981	2724981	NC_000018.9:g.2724981T>G	-
NM_015295.3(SMCHD1):c.2698A>G (p.Lys900Glu)	23347	SMCHD1	Uncertain significance	-1	RCV002304453;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2724991	2724991	2724991	-
NM_015295.3(SMCHD1):c.2700+12G>A	23347	SMCHD1	Likely benign	-1	RCV002109487;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2725005	2725005	2725005	-
NM_015295.3(SMCHD1):c.2700+14A>G	23347	SMCHD1	Likely benign	-1	RCV002152233;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2725007	2725007	2725007	-
NM_015295.3(SMCHD1):c.2700+15T>C	23347	SMCHD1	Likely benign	-1	RCV002716258;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2725008	2725008	NC_000018.9:g.2725008T>C	-
NM_015295.3(SMCHD1):c.2701-14T>G	23347	SMCHD1	Likely benign	-1	RCV002196474;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2726436	2726436	2726436	-
NM_015295.3(SMCHD1):c.2701-8del	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs886044517	RCV000289875\|RCV002059298;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2726442	2726442	18:g.2726436_2726436del	ClinGen:CA10606857	CN169374 not specified;
NM_015295.3(SMCHD1):c.2701-8T>C	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs1324600079	RCV000734302\|RCV001397137;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2726442	2726442	NC_000018.9:g.2726442T>C	-
NM_015295.3(SMCHD1):c.2701-4A>G	23347	SMCHD1	Uncertain significance	-1	RCV001895533;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2726446	2726446	2726446	-
NM_015295.3(SMCHD1):c.2710C>A (p.Leu904Met)	23347	SMCHD1	Uncertain significance	-1	RCV003028283;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2726459	2726459	NC_000018.9:g.2726459C>A	-
NM_015295.3(SMCHD1):c.2731T>A (p.Leu911Ile)	23347	SMCHD1	Uncertain significance	rs770371694	RCV000543644;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2726480	2726480	18:g.2726480T>A	ClinGen:CA8871048	C1834671 158901 Facioscapulohumeral muscular dystrophy 2;
NM_015295.3(SMCHD1):c.2732T>G (p.Leu911Ter)	23347	SMCHD1	Pathogenic	-1	RCV001970062;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2726481	2726481	2726481	-
NM_015295.3(SMCHD1):c.2769A>G (p.Leu923_Pro924=)	23347	SMCHD1	Likely benign	-1	RCV003026708;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2726518	2726518	NC_000018.9:g.2726518A>G	-
NM_015295.3(SMCHD1):c.2773+6A>G	23347	SMCHD1	Uncertain significance	-1	RCV001976060;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2726528	2726528	2726528	-
NM_015295.3(SMCHD1):c.2773+9A>G	23347	SMCHD1	Likely benign	-1	RCV002680859;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2726531	2726531	NC_000018.9:g.2726531A>G	-
NM_015295.3(SMCHD1):c.2773+10T>C	23347	SMCHD1	Likely benign	-1	RCV003000118;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2726532	2726532	NC_000018.9:g.2726532T>C	-
NM_015295.3(SMCHD1):c.2773+16G>C	23347	SMCHD1	Likely benign	-1	RCV002628860;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2726538	2726538	NC_000018.9:g.2726538G>C	-
NM_015295.3(SMCHD1):c.2774-18T>C	23347	SMCHD1	Likely benign	-1	RCV002109580;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2728437	2728437	2728437	-
NM_015295.3(SMCHD1):c.2782C>T (p.Arg928Cys)	23347	SMCHD1	Uncertain significance	-1	RCV002971599;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2728463	2728463	NC_000018.9:g.2728463C>T	-
NM_015295.3(SMCHD1):c.2783G>A (p.Arg928His)	23347	SMCHD1	Uncertain significance	-1	RCV001905647;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2728464	2728464	2728464	-
NM_015295.3(SMCHD1):c.2787A>G (p.Arg929_Leu930=)	23347	SMCHD1	Likely benign	-1	RCV002750767;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2728468	2728468	NC_000018.9:g.2728468A>G	-
NM_015295.3(SMCHD1):c.2790G>A (p.Leu930=)	23347	SMCHD1	Likely benign	-1	RCV002205401;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2728471	2728471	2728471	-
NM_015295.3(SMCHD1):c.2799A>G (p.Lys933=)	23347	SMCHD1	Likely benign	-1	RCV001424418;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2728480	2728480	2728480	-
NM_015295.3(SMCHD1):c.2835A>T (p.Thr945_Ala946=)	23347	SMCHD1	Likely benign	-1	RCV002736677;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2728516	2728516	NC_000018.9:g.2728516A>T	-
NM_015295.3(SMCHD1):c.2838T>C (p.Ala946=)	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs375251871	RCV000597933\|RCV001088158;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2728519	2728519	18:g.2728519T>C	ClinGen:CA8871073	CN169374 not specified;
NM_015295.3(SMCHD1):c.2841C>T (p.Phe947_Pro948=)	23347	SMCHD1	Likely benign	-1	RCV002994671;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2728522	2728522	NC_000018.9:g.2728522C>T	-
NM_015295.3(SMCHD1):c.2860T>G (p.Leu954Val)	23347	SMCHD1	Uncertain significance	-1	RCV002588378;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2728541	2728541	NC_000018.9:g.2728541T>G	-
NM_015295.3(SMCHD1):c.2860T>C (p.Leu954_Asp955=)	23347	SMCHD1	Likely benign	-1	RCV003014841;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2728541	2728541	NC_000018.9:g.2728541T>C	-
NM_015295.3(SMCHD1):c.2871A>G (p.Ser957_Asp958=)	23347	SMCHD1	Likely benign	-1	RCV003110908;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2728552	2728552	NC_000018.9:g.2728552A>G	-
NM_015295.3(SMCHD1):c.2877_2878inv (p.Ile960Val)	23347	SMCHD1	Likely benign	-1	RCV003040370;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2728558	2728559	NC_000018.9:g.2728558_2728559inv	-
NM_015295.3(SMCHD1):c.2878A>G (p.Ile960Val)	23347	SMCHD1	Benign	rs9961682	RCV000244018\|RCV000558597\|RCV001594914;	N	MedGen:CN169374\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MedGen:CN517202	18	2728559	2728559	18:g.2728559A>G	UniProtKB:A6NHR9#VAR_051365,ClinGen:CA8871079	C1834671 158901 Facioscapulohumeral muscular dystrophy 2;
NM_015295.3(SMCHD1):c.2881A>G (p.Thr961Ala)	23347	SMCHD1	Uncertain significance	-1	RCV003054242;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2728562	2728562	NC_000018.9:g.2728562A>G	-
NM_015295.3(SMCHD1):c.2896T>C (p.Leu966_Ile967=)	23347	SMCHD1	Likely benign	-1	RCV002621445;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2728577	2728577	NC_000018.9:g.2728577T>C	-
NM_015295.3(SMCHD1):c.2913+6C>G	23347	SMCHD1	Benign/Likely benign	rs186678728	RCV000282417\|RCV000875359\|RCV001753745;	N	MedGen:CN169374\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MedGen:CN517202	18	2728600	2728600	18:g.2728600C>G	ClinGen:CA8871082	CN169374 not specified;
NM_015295.3(SMCHD1):c.2914-11C>T	23347	SMCHD1	Likely benign	-1	RCV002133155;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2729262	2729262	2729262	-
NM_015295.3(SMCHD1):c.2914-8T>C	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs886043095	RCV000309380\|RCV002055060;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2729265	2729265	18:g.2729265T>C	ClinGen:CA10605102	CN169374 not specified;
NM_015295.3(SMCHD1):c.2914-5A>G	23347	SMCHD1	Uncertain significance	-1	RCV001946147;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2729268	2729268	2729268	-
NM_015295.3(SMCHD1):c.2925T>A (p.Ala975=)	23347	SMCHD1	Likely benign	-1	RCV002089113;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2729284	2729284	2729284	-
NM_015295.3(SMCHD1):c.2938G>A (p.Val980Ile)	23347	SMCHD1	Uncertain significance	rs755786183	RCV001351700;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2729297	2729297	2729297	-
NM_015295.3(SMCHD1):c.2942A>G (p.Tyr981Cys)	23347	SMCHD1	Uncertain significance	-1	RCV002304357;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2729301	2729301	2729301	-
NM_015295.3(SMCHD1):c.2944G>C (p.Val982Leu)	23347	SMCHD1	Uncertain significance	rs375962247	RCV001050770;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2729303	2729303	18:g.2729303G>C	-
NM_015295.3(SMCHD1):c.2945T>C (p.Val982Ala)	23347	SMCHD1	Uncertain significance	rs944887850	RCV001341469\|RCV003136001;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MedGen:CN517202	18	2729304	2729304	2729304	-
NM_015295.3(SMCHD1):c.2979A>G (p.Leu993=)	23347	SMCHD1	Likely benign	-1	RCV002101807;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2729338	2729338	2729338	-
NM_015295.3(SMCHD1):c.2982A>C (p.Thr994=)	23347	SMCHD1	Likely benign	-1	RCV001445558;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2729341	2729341	2729341	-
NM_015295.3(SMCHD1):c.3019C>T (p.Gln1007Ter)	23347	SMCHD1	Pathogenic	-1	RCV002706025;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2729378	2729378	NC_000018.9:g.2729378C>T	-
NM_015295.3(SMCHD1):c.3023C>T (p.Thr1008Met)	23347	SMCHD1	Uncertain significance	-1	RCV001772994\|RCV001868631;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2729382	2729382	2729382	-
NM_015295.3(SMCHD1):c.3033A>T (p.Ala1011=)	23347	SMCHD1	Likely benign	-1	RCV002159572;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2729392	2729392	2729392	-
NM_015295.3(SMCHD1):c.3033A>C (p.Ala1011_Arg1012=)	23347	SMCHD1	Likely benign	-1	RCV002667230;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2729392	2729392	NC_000018.9:g.2729392A>C	-
NM_015295.3(SMCHD1):c.3047C>T (p.Pro1016Leu)	23347	SMCHD1	Uncertain significance	rs528154864	RCV000323778\|RCV001216693;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2729406	2729406	18:g.2729406C>T	ClinGen:CA8871117	CN169374 not specified;
NM_015295.3(SMCHD1):c.3048+3A>G	23347	SMCHD1	Uncertain significance	-1	RCV003041996;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2729410	2729410	NC_000018.9:g.2729410A>G	-
NM_015295.3(SMCHD1):c.3048+17A>G	23347	SMCHD1	Likely benign	-1	RCV002857290;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2729424	2729424	NC_000018.9:g.2729424A>G	-
NM_015295.3(SMCHD1):c.3048+19del	23347	SMCHD1	Likely benign	-1	RCV002624322;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2729426	2729426	NC_000018.9:g.2729426del	-
NM_015295.3(SMCHD1):c.3049-13C>T	23347	SMCHD1	Likely benign	-1	RCV002928497;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2732250	2732250	NC_000018.9:g.2732250C>T	-
NM_015295.3(SMCHD1):c.3049-6T>G	23347	SMCHD1	Likely benign	-1	RCV001935610;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2732257	2732257	2732257	-
NM_015295.3(SMCHD1):c.3053G>T (p.Cys1018Phe)	23347	SMCHD1	Uncertain significance	-1	RCV002816230;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2732267	2732267	NC_000018.9:g.2732267G>T	-
NM_015295.3(SMCHD1):c.3059A>T (p.Asp1020Val)	23347	SMCHD1	Uncertain significance	-1	RCV002051487;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2732273	2732273	2732273	-
NM_015295.3(SMCHD1):c.3067C>T (p.Pro1023Ser)	23347	SMCHD1	Uncertain significance	-1	RCV002710254;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2732281	2732281	NC_000018.9:g.2732281C>T	-
NM_015295.3(SMCHD1):c.3085A>C (p.Lys1029Gln)	23347	SMCHD1	Uncertain significance	-1	RCV002303246;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2732299	2732299	2732299	-
NM_015295.3(SMCHD1):c.3106G>A (p.Val1036Ile)	23347	SMCHD1	Uncertain significance	-1	RCV001924756\|RCV002553468;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MeSH:D030342,MedGen:C0950123	18	2732320	2732320	2732320	-
NM_015295.3(SMCHD1):c.3124T>C (p.Phe1042Leu)	23347	SMCHD1	Uncertain significance	-1	RCV001986557;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2732338	2732338	2732338	-
NM_015295.3(SMCHD1):c.3138A>T (p.Gly1046=)	23347	SMCHD1	Benign	rs138078408	RCV000876446;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2732352	2732352	18:g.2732352A>T	-
NM_015295.3(SMCHD1):c.3148A>T (p.Ile1050Phe)	23347	SMCHD1	Uncertain significance	rs1568260824	RCV000695654;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2732362	2732362	NC_000018.9:g.2732362A>T	-	C1834671 158901 Facioscapulohumeral muscular dystrophy 2;
NM_015295.3(SMCHD1):c.3182T>A (p.Ile1061Lys)	23347	SMCHD1	Uncertain significance	-1	RCV001887253;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2732396	2732396	2732396	-
NM_015295.3(SMCHD1):c.3185C>T (p.Ala1062Val)	23347	SMCHD1	Uncertain significance	-1	RCV003112060;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2732399	2732399	NC_000018.9:g.2732399C>T	-
NM_015295.3(SMCHD1):c.3200A>G (p.His1067Arg)	23347	SMCHD1	Uncertain significance	-1	RCV002725275;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2732414	2732414	NC_000018.9:g.2732414A>G	-
NM_015295.3(SMCHD1):c.3209T>C (p.Ile1070Thr)	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs113434340	RCV000321018\|RCV000725767\|RCV000850315\|RCV001859637;	N	MedGen:CN169374\|MedGen:CN517202\|Human Phenotype Ontology:HP:0008970,MONDO:MONDO:0010884,MedGen:C0410192,OMIM:600416, Orphanet:269\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2732423	2732423	18:g.2732423T>C	ClinGen:CA8871151	CN169374 not specified;
NM_015295.3(SMCHD1):c.3219G>A (p.Met1073Ile)	23347	SMCHD1	Uncertain significance	-1	RCV002595300;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2732433	2732433	NC_000018.9:g.2732433G>A	-
NM_015295.3(SMCHD1):c.3234_3235del (p.Glu1080fs)	23347	SMCHD1	Pathogenic	rs2075160048	RCV001247815;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2732447	2732448	18:g.2732447_2732448del	-
NM_015295.3(SMCHD1):c.3245A>G (p.Asn1082Ser)	23347	SMCHD1	Uncertain significance	rs756368420	RCV000318655\|RCV000685876;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2732459	2732459	18:g.2732459A>G	ClinGen:CA8871153	C1834671 158901 Facioscapulohumeral muscular dystrophy 2;
NM_015295.3(SMCHD1):c.3247A>G (p.Ile1083Val)	23347	SMCHD1	Uncertain significance	-1	RCV003110851;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2732461	2732461	NC_000018.9:g.2732461A>G	-
NM_015295.3(SMCHD1):c.3251C>T (p.Thr1084Ile)	23347	SMCHD1	Uncertain significance	rs371392245	RCV000311013\|RCV000800862;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2732465	2732465	18:g.2732465C>T	ClinGen:CA8871156	CN169374 not specified;
NM_015295.3(SMCHD1):c.3256G>A (p.Ala1086Thr)	23347	SMCHD1	Uncertain significance	-1	RCV003105068;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2732470	2732470	NC_000018.9:g.2732470G>A	-
NM_015295.3(SMCHD1):c.3260T>C (p.Leu1087Ser)	23347	SMCHD1	Uncertain significance	rs930009782	RCV000639713;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2732474	2732474	NC_000018.9:g.2732474T>C	ClinGen:CA295469696	C1834671 158901 Facioscapulohumeral muscular dystrophy 2;
NM_015295.3(SMCHD1):c.3271_3276del (p.Ile1091_Lys1092del)	23347	SMCHD1	Uncertain significance	rs2075161238	RCV001308184;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2732482	2732487	2732481	-
NM_015295.3(SMCHD1):c.3272_3275del (p.Ile1091fs)	23347	SMCHD1	Pathogenic	rs2075161300	RCV001069017;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2732484	2732487	18:g.2732484_2732487del	-
NM_015295.3(SMCHD1):c.3274_3276+1del	23347	SMCHD1	Pathogenic	-1	RCV001939584\|RCV002569139;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MeSH:D030342,MedGen:C0950123	18	2732488	2732491	2732487	-
NM_015295.3(SMCHD1):c.3276+4_3276+7del	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs2075161499	RCV001051599\|RCV003141982;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MedGen:CN517202	18	2732489	2732492	18:g.2732489_2732492del	-
NM_015295.3(SMCHD1):c.3276_3276+4del	23347	SMCHD1	Pathogenic	rs1555642277	RCV000594433\|RCV001388614;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2732490	2732494	18:g.2732487_2732491del	ClinGen:CA658798988	C1834671 158901 Facioscapulohumeral muscular dystrophy 2;
NM_015295.3(SMCHD1):c.3276+8T>C	23347	SMCHD1	Likely benign	-1	RCV002194726;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2732498	2732498	2732498	-
NM_015295.3(SMCHD1):c.3276+20T>G	23347	SMCHD1	Likely benign	-1	RCV003074737;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2732510	2732510	NC_000018.9:g.2732510T>G	-
NC_000018.9:g.(?_2738375)_(2802550_?)del	23347	SMCHD1	Likely pathogenic	-1	RCV003119570;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2738375	2802550		-
NM_015295.3(SMCHD1):c.3277-5C>T	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs542259388	RCV000352332\|RCV001089314;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2738390	2738390	18:g.2738390C>T	ClinGen:CA8871170	CN169374 not specified;
NM_015295.3(SMCHD1):c.3286A>G (p.Thr1096Ala)	23347	SMCHD1	Uncertain significance	-1	RCV002882094;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2738404	2738404	NC_000018.9:g.2738404A>G	-
NM_015295.3(SMCHD1):c.3312G>C (p.Leu1104Phe)	23347	SMCHD1	Uncertain significance	rs886042340	RCV000368581\|RCV001855101;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2738430	2738430	18:g.2738430G>C	ClinGen:CA10604102	CN169374 not specified;
NM_015295.3(SMCHD1):c.3323T>C (p.Leu1108Pro)	23347	SMCHD1	Likely pathogenic	-1	RCV001542794;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2738441	2738441	2738441	-
NM_015295.3(SMCHD1):c.3339A>G (p.Gln1113=)	23347	SMCHD1	Uncertain significance	-1	RCV001934668;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2738457	2738457	2738457	-
NM_015295.3(SMCHD1):c.3340G>A (p.Val1114Ile)	23347	SMCHD1	Uncertain significance	rs778206654	RCV000265066\|RCV002519233;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2738458	2738458	18:g.2738458G>A	ClinGen:CA8871177	CN169374 not specified;
NM_015295.3(SMCHD1):c.3346A>G (p.Thr1116Ala)	23347	SMCHD1	Uncertain significance	rs377085725	RCV001051327\|RCV002267070;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MedGen:CN517202	18	2738464	2738464	18:g.2738464A>G	-
NM_015295.3(SMCHD1):c.3350C>T (p.Ser1117Phe)	23347	SMCHD1	Uncertain significance	-1	RCV002912490;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2738468	2738468	NC_000018.9:g.2738468C>T	-
NM_015295.3(SMCHD1):c.3361A>G (p.Met1121Val)	23347	SMCHD1	Uncertain significance	rs572540832	RCV000803765;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2738479	2738479	18:g.2738479A>G	-
NM_015295.3(SMCHD1):c.3410G>A (p.Ser1137Asn)	23347	SMCHD1	Uncertain significance	-1	RCV003073675;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2738528	2738528	NC_000018.9:g.2738528G>A	-
NM_015295.3(SMCHD1):c.3413C>T (p.Ala1138Val)	23347	SMCHD1	Uncertain significance	-1	RCV002710521;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2738531	2738531	NC_000018.9:g.2738531C>T	-
NM_015295.3(SMCHD1):c.3414G>A (p.Ala1138=)	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs778892054	RCV000597408\|RCV001483319;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2738532	2738532	18:g.2738532G>A	ClinGen:CA8871187	CN169374 not specified;
NM_015295.3(SMCHD1):c.3425+5G>C	23347	SMCHD1	Uncertain significance	rs2075292456	RCV001235803;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2738548	2738548	18:g.2738548G>C	-
NM_015295.3(SMCHD1):c.3425+15_3425+17del	23347	SMCHD1	Likely benign	-1	RCV002666712;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2738556	2738558	NC_000018.9:g.2738558_2738560del	-
NM_015295.3(SMCHD1):c.3425+16_3425+18dup	23347	SMCHD1	Likely benign	-1	RCV002216763;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2738558	2738559	2738558	-
NM_015295.3(SMCHD1):c.3425+16A>G	23347	SMCHD1	Likely benign	-1	RCV003073579;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2738559	2738559	NC_000018.9:g.2738559A>G	-
NM_015295.3(SMCHD1):c.3425+19T>A	23347	SMCHD1	Likely benign	-1	RCV002577740;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2738562	2738562	NC_000018.9:g.2738562T>A	-
NM_015295.3(SMCHD1):c.3434del (p.Pro1145fs)	23347	SMCHD1	Pathogenic	rs2075307655	RCV001231571;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2739437	2739437	18:g.2739437_2739437del	-
NM_015295.3(SMCHD1):c.3435T>C (p.Pro1145=)	23347	SMCHD1	Likely benign	-1	RCV002137778;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2739439	2739439	2739439	-
NM_015295.3(SMCHD1):c.3444T>A (p.Pro1148=)	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs76290319	RCV000253942\|RCV000724669\|RCV001081303;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2739448	2739448	18:g.2739448T>A	ClinGen:CA242785	C1834671 158901 Facioscapulohumeral muscular dystrophy 2;
NM_015295.3(SMCHD1):c.3451T>C (p.Leu1151=)	23347	SMCHD1	Likely benign	rs759659672	RCV000980474\|RCV001504238;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2739455	2739455	18:g.2739455T>C	-
NM_015295.3(SMCHD1):c.3463A>G (p.Met1155Val)	23347	SMCHD1	Uncertain significance	rs559928798	RCV001321432;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2739467	2739467	2739467	-
NM_015295.3(SMCHD1):c.3469G>T (p.Gly1157Ter)	23347	SMCHD1	Pathogenic	rs2075308386	RCV001310239;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2739473	2739473	2739473	OMIM:614982.0017
NM_015295.3(SMCHD1):c.3471A>G (p.Gly1157=)	23347	SMCHD1	Likely benign	-1	RCV002147932;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2739475	2739475	2739475	-
NM_015295.3(SMCHD1):c.3479C>T (p.Thr1160Ile)	23347	SMCHD1	Uncertain significance	rs2075308543	RCV001222501;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2739483	2739483	18:g.2739483C>T	-
NM_015295.3(SMCHD1):c.3484C>T (p.Gln1162Ter)	23347	SMCHD1	Pathogenic	rs1555644339	RCV000639711;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2739488	2739488	NC_000018.9:g.2739488C>T	ClinGen:CA401687929	C1834671 158901 Facioscapulohumeral muscular dystrophy 2;
NM_015295.3(SMCHD1):c.3490G>A (p.Gly1164Ser)	23347	SMCHD1	Uncertain significance	-1	RCV001898147;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2739494	2739494	2739494	-
NM_015295.3(SMCHD1):c.3495A>G (p.Gln1165=)	23347	SMCHD1	Likely benign	-1	RCV002200458;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2739499	2739499	2739499	-
NM_015295.3(SMCHD1):c.3514+4A>G	23347	SMCHD1	Uncertain significance	rs754405751	RCV000733877\|RCV002535355;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2739522	2739522	NC_000018.9:g.2739522A>G	-
NM_015295.3(SMCHD1):c.3514+7A>G	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs886044081	RCV000263327\|RCV002518068;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2739525	2739525	18:g.2739525A>G	ClinGen:CA10606324	CN169374 not specified;
NM_015295.3(SMCHD1):c.3514+10G>T	23347	SMCHD1	Likely benign	-1	RCV002113940;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2739528	2739528	2739528	-
NM_015295.3(SMCHD1):c.3515-5T>C	23347	SMCHD1	Likely benign	-1	RCV003036889;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2740696	2740696	NC_000018.9:g.2740696T>C	-
NM_015295.3(SMCHD1):c.3519A>G (p.Ile1173Met)	23347	SMCHD1	Benign	rs536643888	RCV000592863\|RCV000872932;	N	MedGen:CN169374\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2740705	2740705	18:g.2740705A>G	ClinGen:CA8871234	CN169374 not specified;
NM_015295.3(SMCHD1):c.3522A>T (p.Ile1174_Ile1175=)	23347	SMCHD1	Likely benign	-1	RCV003065072;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2740708	2740708	NC_000018.9:g.2740708A>T	-
NM_015295.3(SMCHD1):c.3527_3528inv (p.Thr1176Met)	23347	SMCHD1	Uncertain significance	-1	RCV000289028\|RCV001043334\|RCV002487193;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269; MONDO:MONDO:0011323,MedGen:C1863878,OMIM:603457, Orphanet:1135, Orphanet:2250	18	2740713	2740714	NC_000018.9:g.2740713_2740714inv	ClinGen:CA10604068	CN169374 not specified;
NM_015295.3(SMCHD1):c.3527C>T (p.Thr1176Ile)	23347	SMCHD1	Uncertain significance	rs553452960	RCV000351065\|RCV002494820;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269; MONDO:MONDO:0011323,MedGen:C1863878,OMIM:603457, Orphanet:1135, Orphanet:2250	18	2740713	2740713	18:g.2740713C>T	ClinGen:CA8871237	CN169374 not specified;
NM_015295.3(SMCHD1):c.3528A>G (p.Thr1176=)	23347	SMCHD1	Benign	rs12327477	RCV000245952\|RCV000993033\|RCV001510269\|RCV001808709;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MONDO:MONDO:0011323,MedGen:C1863878,OMIM:603457, Orphanet:1135, Orphanet:2250	18	2740714	2740714	18:g.2740714A>G	ClinGen:CA8871238	CN169374 not specified;
NM_015295.3(SMCHD1):c.3529G>T (p.Asp1177Tyr)	23347	SMCHD1	Uncertain significance	rs1568280995	RCV000678448\|RCV002225113;	N	Human Phenotype Ontology:HP:0008970,MONDO:MONDO:0010884,MedGen:C0410192,OMIM:600416, Orphanet:269\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2740715	2740715	NC_000018.9:g.2740715G>T	-	C0410192 600416 Scapulohumeral muscular dystrophy;
NM_015295.3(SMCHD1):c.3538G>A (p.Gly1180Arg)	23347	SMCHD1	Uncertain significance	-1	RCV003076333;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2740724	2740724	NC_000018.9:g.2740724G>A	-
NM_015295.3(SMCHD1):c.3546G>T (p.Gln1182His)	23347	SMCHD1	Uncertain significance	-1	RCV001882338;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2740732	2740732	2740732	-
NM_015295.3(SMCHD1):c.3548T>C (p.Ile1183Thr)	23347	SMCHD1	Uncertain significance	-1	RCV002017821;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2740734	2740734	2740734	-
NM_015295.3(SMCHD1):c.3563C>G (p.Pro1188Arg)	23347	SMCHD1	Uncertain significance	rs1598391266	RCV000795685;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2740749	2740749	18:g.2740749C>G	-
NM_015295.3(SMCHD1):c.3574T>C (p.Ser1192Pro)	23347	SMCHD1	Uncertain significance	-1	RCV002952416;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2740760	2740760	NC_000018.9:g.2740760T>C	-
NM_015295.3(SMCHD1):c.3586A>G (p.Ile1196Val)	23347	SMCHD1	Uncertain significance	-1	RCV001946537;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2740772	2740772	2740772	-
NM_015295.3(SMCHD1):c.3592G>A (p.Gly1198Arg)	23347	SMCHD1	Uncertain significance	-1	RCV002009529;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2740778	2740778	2740778	-
NM_015295.3(SMCHD1):c.3596T>C (p.Val1199Ala)	23347	SMCHD1	Uncertain significance	-1	RCV001960121;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2740782	2740782	2740782	-
NM_015295.3(SMCHD1):c.3606T>C (p.Asp1202=)	23347	SMCHD1	Uncertain significance	rs539377223	RCV000330057\|RCV001859688;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2740792	2740792	18:g.2740792T>C	ClinGen:CA8871249	CN169374 not specified;
NM_015295.3(SMCHD1):c.3608G>C (p.Ser1203Thr)	23347	SMCHD1	Uncertain significance	-1	RCV002042901;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2740794	2740794	2740794	-
NM_015295.3(SMCHD1):c.3609C>G (p.Ser1203Arg)	23347	SMCHD1	Uncertain significance	-1	RCV001864837;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2740795	2740795	2740795	-
NM_015295.3(SMCHD1):c.3612A>T (p.Ser1204=)	23347	SMCHD1	Benign	rs115632137	RCV000250900\|RCV000532390\|RCV001668545;	N	MedGen:CN169374\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MedGen:CN517202	18	2740798	2740798	NC_000018.9:g.2740798A>T	ClinGen:CA8871250	C1834671 158901 Facioscapulohumeral muscular dystrophy 2;
NM_015295.3(SMCHD1):c.3619A>G (p.Lys1207Glu)	23347	SMCHD1	Uncertain significance	-1	RCV002601308;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2740805	2740805	NC_000018.9:g.2740805A>G	-
NM_015295.3(SMCHD1):c.3620A>G (p.Lys1207Arg)	23347	SMCHD1	Uncertain significance	-1	RCV001944771;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2740806	2740806	2740806	-
NM_015295.3(SMCHD1):c.3633+7C>T	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs200391083	RCV000379349\|RCV002059107;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2740826	2740826	18:g.2740826C>T	ClinGen:CA8871252	CN169374 not specified;
NM_015295.3(SMCHD1):c.3633+10_3633+16del	23347	SMCHD1	Likely benign	rs1555644751	RCV000542852;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2740826	2740832	NC_000018.9:g.2740829_2740835del	ClinGen:CA658658718	C1834671 158901 Facioscapulohumeral muscular dystrophy 2;
NM_015295.3(SMCHD1):c.3633+10C>T	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs368857612	RCV000357467\|RCV001413532;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2740829	2740829	18:g.2740829C>T	ClinGen:CA8871254	CN169374 not specified;
NM_015295.3(SMCHD1):c.3633+10C>G	23347	SMCHD1	Likely benign	-1	RCV002634231;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2740829	2740829	NC_000018.9:g.2740829C>G	-
NM_015295.3(SMCHD1):c.3634-10dup	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs763101269	RCV000276525\|RCV002521942;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2743749	2743749	18:g.2743745_2743746insT	ClinGen:CA8871270	CN169374 not specified;
NM_015295.3(SMCHD1):c.3636A>G (p.Glu1212=)	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs372008124	RCV000364487\|RCV001463457;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2743761	2743761	18:g.2743761A>G	ClinGen:CA8871271	CN169374 not specified;
NM_015295.3(SMCHD1):c.3639C>A (p.Asn1213Lys)	23347	SMCHD1	Uncertain significance	rs780740818	RCV001308976;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2743764	2743764	2743764	-
NM_015295.3(SMCHD1):c.3645_3646delinsTT (p.Gln1215_Ser1216delinsHisCys)	23347	SMCHD1	Uncertain significance	-1	RCV001984830;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2743770	2743771	2743770	-
NM_015295.3(SMCHD1):c.3652A>C (p.Ser1218Arg)	23347	SMCHD1	Uncertain significance	-1	RCV001863935;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2743777	2743777	2743777	-
NM_015295.3(SMCHD1):c.3654T>C (p.Ser1218=)	23347	SMCHD1	Likely benign	-1	RCV002120384;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2743779	2743779	2743779	-
NM_015295.3(SMCHD1):c.3659G>A (p.Arg1220Lys)	23347	SMCHD1	Uncertain significance	-1	RCV003091731;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2743784	2743784	NC_000018.9:g.2743784G>A	-
NM_015295.3(SMCHD1):c.3700C>G (p.Leu1234Val)	23347	SMCHD1	Uncertain significance	-1	RCV002009197;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2743825	2743825	2743825	-
NM_015295.3(SMCHD1):c.3710C>T (p.Thr1237Ile)	23347	SMCHD1	Uncertain significance	rs761222520	RCV001248305;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2743835	2743835	18:g.2743835C>T	-
NM_015295.3(SMCHD1):c.3715C>T (p.Arg1239Cys)	23347	SMCHD1	Uncertain significance	rs771294371	RCV000598215\|RCV001036634;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2743840	2743840	18:g.2743840C>T	ClinGen:CA401689573	CN169374 not specified;
NM_015295.3(SMCHD1):c.3716G>A (p.Arg1239His)	23347	SMCHD1	Uncertain significance	rs750301200	RCV001037476;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2743841	2743841	18:g.2743841G>A	-
NM_015295.3(SMCHD1):c.3736C>T (p.Arg1246Ter)	23347	SMCHD1	Pathogenic	-1	RCV002007289;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2743861	2743861	2743861	-
NM_015295.3(SMCHD1):c.3743A>C (p.Gln1248Pro)	23347	SMCHD1	Uncertain significance	-1	RCV001931258\|RCV002560523;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MeSH:D030342,MedGen:C0950123	18	2743868	2743868	2743868	-
NM_015295.3(SMCHD1):c.3760C>G (p.Pro1254Ala)	23347	SMCHD1	Uncertain significance	rs755677576	RCV001248314;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2743885	2743885	18:g.2743885C>G	-
NM_015295.3(SMCHD1):c.3769C>T (p.Leu1257Phe)	23347	SMCHD1	Uncertain significance	rs766226383	RCV000295797\|RCV001855155;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2743894	2743894	NC_000018.9:g.2743894C>T	ClinGen:CA8871292	CN169374 not specified;
NM_015295.3(SMCHD1):c.3769C>G (p.Leu1257Val)	23347	SMCHD1	Uncertain significance	-1	RCV002806297;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2743894	2743894	NC_000018.9:g.2743894C>G	-
NM_015295.3(SMCHD1):c.3772_3773insA (p.Leu1258fs)	23347	SMCHD1	Pathogenic	-1	RCV001387430;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2743897	2743898	2743897	-
NM_015295.3(SMCHD1):c.3774_3776del (p.Leu1259del)	23347	SMCHD1	Uncertain significance	-1	RCV001887965;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2743897	2743899	2743896	-
NM_015295.3(SMCHD1):c.3774C>T (p.Leu1258=)	23347	SMCHD1	Likely benign	-1	RCV001423544;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2743899	2743899	2743899	-
NM_015295.3(SMCHD1):c.3778A>G (p.Ile1260Val)	23347	SMCHD1	Uncertain significance	-1	RCV001878722;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2743903	2743903	2743903	-
NM_015295.3(SMCHD1):c.3784_3788del (p.Trp1262fs)	23347	SMCHD1	Pathogenic	-1	RCV002982463;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2743908	2743912	NC_000018.9:g.2743909_2743913del	-
NM_015295.3(SMCHD1):c.3786G>A (p.Trp1262Ter)	23347	SMCHD1	Pathogenic	-1	RCV002932869;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2743911	2743911	NC_000018.9:g.2743911G>A	-
NM_015295.3(SMCHD1):c.3794T>C (p.Leu1265Pro)	23347	SMCHD1	Uncertain significance	-1	RCV002676575;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2743919	2743919	NC_000018.9:g.2743919T>C	-
NM_015295.3(SMCHD1):c.3801+1G>A	23347	SMCHD1	Pathogenic	rs886042417	RCV000033085\|RCV000356100;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MedGen:CN517202	18	2743927	2743927	18:g.2743927G>A	ClinGen:CA10604207,OMIM:614982.0004	C1834671 158901 Facioscapulohumeral muscular dystrophy 2;
NM_015295.3(SMCHD1):c.3801+9C>T	23347	SMCHD1	Likely benign	-1	RCV002995955;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2743935	2743935	NC_000018.9:g.2743935C>T	-
NM_015295.3(SMCHD1):c.3801+18T>C	23347	SMCHD1	Likely benign	-1	RCV002173193;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2743944	2743944	2743944	-
NM_015295.3(SMCHD1):c.3802-19A>G	23347	SMCHD1	Likely benign	-1	RCV002588478;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2747501	2747501	NC_000018.9:g.2747501A>G	-
NM_015295.3(SMCHD1):c.3802-16T>G	23347	SMCHD1	Benign	rs79829175	RCV000254251\|RCV001651210\|RCV002055051;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2747504	2747504	NC_000018.9:g.2747504T>G	ClinGen:CA8871313	CN169374 not specified;
NM_015295.3(SMCHD1):c.3802-13C>T	23347	SMCHD1	Likely benign	-1	RCV002168034;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2747507	2747507	2747507	-
NM_015295.3(SMCHD1):c.3802-12T>C	23347	SMCHD1	Likely benign	-1	RCV002179653;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2747508	2747508	2747508	-
NM_015295.3(SMCHD1):c.3802-4del	23347	SMCHD1	Likely benign	-1	RCV001429478;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2747513	2747513	2747512	-
NM_015295.3(SMCHD1):c.3805A>C (p.Ile1269Leu)	23347	SMCHD1	Uncertain significance	-1	RCV001910971;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2747523	2747523	2747523	-
NM_015295.3(SMCHD1):c.3831A>G (p.Leu1277=)	23347	SMCHD1	Likely benign	-1	RCV002197519;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2747549	2747549	2747549	-
NM_015295.3(SMCHD1):c.3841A>G (p.Ile1281Val)	23347	SMCHD1	Uncertain significance	rs201059575	RCV000285663\|RCV000639708\|RCV002518858;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MeSH:D030342,MedGen:C0950123	18	2747559	2747559	18:g.2747559A>G	ClinGen:CA8871322	C1834671 158901 Facioscapulohumeral muscular dystrophy 2;
NM_015295.3(SMCHD1):c.3852A>G (p.Gln1284_Leu1285=)	23347	SMCHD1	Likely benign	-1	RCV002867277;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2747570	2747570	NC_000018.9:g.2747570A>G	-
NM_015295.3(SMCHD1):c.3868G>T (p.Asp1290Tyr)	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs146798599	RCV000361618\|RCV001434919;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2747586	2747586	18:g.2747586G>T	ClinGen:CA8871326	CN169374 not specified;
NM_015295.3(SMCHD1):c.3872A>G (p.Asn1291Ser)	23347	SMCHD1	Benign/Likely benign	rs201497685	RCV000352363\|RCV002055062;	N	MedGen:CN169374\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2747590	2747590	18:g.2747590A>G	ClinGen:CA8871328	CN169374 not specified;
NM_015295.3(SMCHD1):c.3881C>T (p.Pro1294Leu)	23347	SMCHD1	Uncertain significance	rs759140838	RCV001321699;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2747599	2747599	2747599	-
NM_015295.3(SMCHD1):c.3890A>G (p.His1297Arg)	23347	SMCHD1	Uncertain significance	rs932696032	RCV001208487\|RCV003142139;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MedGen:CN517202	18	2747608	2747608	18:g.2747608A>G	-
NM_015295.3(SMCHD1):c.3891T>C (p.His1297=)	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs758075470	RCV000598210\|RCV002062053;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2747609	2747609	18:g.2747609T>C	ClinGen:CA8871332	CN169374 not specified;
NM_015295.3(SMCHD1):c.3927+2dup	23347	SMCHD1	Uncertain significance	rs2075481193	RCV001260522\|RCV002290667;	N	Human Phenotype Ontology:HP:0003547,Human Phenotype Ontology:HP:0003695,Human Phenotype Ontology:HP:0009009,MedGen:C0427063\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2747646	2747647	18:g.2747646_2747647insT	-
NM_015295.3(SMCHD1):c.3927+16C>T	23347	SMCHD1	Likely benign	-1	RCV002127042;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2747661	2747661	2747661	-
NM_015295.3(SMCHD1):c.3931A>G (p.Met1311Val)	23347	SMCHD1	Uncertain significance	-1	RCV002958002;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2750044	2750044	NC_000018.9:g.2750044A>G	-
NM_015295.3(SMCHD1):c.3948G>A (p.Gln1316=)	23347	SMCHD1	Likely benign	rs776456103	RCV002548375;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2750061	2750061	18:g.2750061G>A	-
NM_015295.3(SMCHD1):c.3950A>C (p.His1317Pro)	23347	SMCHD1	Uncertain significance	-1	RCV001963352;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2750063	2750063	2750063	-
NM_015295.3(SMCHD1):c.3957A>G (p.Thr1319=)	23347	SMCHD1	Likely benign	-1	RCV002172521;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2750070	2750070	2750070	-
NM_015295.3(SMCHD1):c.3971G>A (p.Arg1324Lys)	23347	SMCHD1	Uncertain significance	rs1555647170	RCV000639705;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2750084	2750084	NC_000018.9:g.2750084G>A	ClinGen:CA401691509	C1834671 158901 Facioscapulohumeral muscular dystrophy 2;
NM_015295.3(SMCHD1):c.3972G>T (p.Arg1324Ser)	23347	SMCHD1	Uncertain significance	-1	RCV002303765;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2750085	2750085	2750085	-
NM_015295.3(SMCHD1):c.3973G>A (p.Ala1325Thr)	23347	SMCHD1	Uncertain significance	rs2075542752	RCV001318600;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2750086	2750086	2750086	-
NM_015295.3(SMCHD1):c.4004C>T (p.Pro1335Leu)	23347	SMCHD1	Uncertain significance	-1	RCV002958923;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2750117	2750117	NC_000018.9:g.2750117C>T	-
NM_015295.3(SMCHD1):c.4007+7A>G	23347	SMCHD1	Likely benign	rs763769769	RCV002548254;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2750127	2750127	18:g.2750127A>G	-
NM_015295.3(SMCHD1):c.4007+13A>G	23347	SMCHD1	Likely benign	-1	RCV002740895;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2750133	2750133	NC_000018.9:g.2750133A>G	-
NM_015295.3(SMCHD1):c.4008-18C>T	23347	SMCHD1	Likely benign	-1	RCV002105764;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2750330	2750330	2750330	-
NM_015295.3(SMCHD1):c.4008-7_4008-3del	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs760383946	RCV000261539\|RCV002059134;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2750341	2750345	18:g.2750334_2750338del	ClinGen:CA8871365	CN169374 not specified;
NM_015295.3(SMCHD1):c.4008-3T>C	23347	SMCHD1	Uncertain significance	rs780935342	RCV001049888;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2750345	2750345	18:g.2750345T>C	-
NM_015295.3(SMCHD1):c.4017T>G (p.His1339Gln)	23347	SMCHD1	Uncertain significance	-1	RCV001996217;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2750357	2750357	2750357	-
NM_015295.3(SMCHD1):c.4025A>G (p.Gln1342Arg)	23347	SMCHD1	Uncertain significance	-1	RCV001878676;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2750365	2750365	2750365	-
NM_015295.3(SMCHD1):c.4078A>G (p.Met1360Val)	23347	SMCHD1	Uncertain significance	rs1345271914	RCV000685582;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2750418	2750418	18:g.2750418A>G	-	C1834671 158901 Facioscapulohumeral muscular dystrophy 2;
NM_015295.3(SMCHD1):c.4079T>C (p.Met1360Thr)	23347	SMCHD1	Uncertain significance	-1	RCV003026254;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2750419	2750419	NC_000018.9:g.2750419T>C	-
NM_015295.3(SMCHD1):c.4097A>G (p.Glu1366Gly)	23347	SMCHD1	Uncertain significance	-1	RCV002301273;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2750437	2750437	2750437	-
NM_015295.3(SMCHD1):c.4100A>G (p.Lys1367Arg)	23347	SMCHD1	Uncertain significance	-1	RCV001914450;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2750440	2750440	2750440	-
NM_015295.3(SMCHD1):c.4101A>C (p.Lys1367Asn)	23347	SMCHD1	Uncertain significance	-1	RCV002928702;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2750441	2750441	NC_000018.9:g.2750441A>C	-
NM_015295.3(SMCHD1):c.4104del (p.Val1369fs)	23347	SMCHD1	Pathogenic	rs1555647265	RCV000639710;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2750442	2750442	NC_000018.9:g.2750444del	ClinGen:CA658798990	C1834671 158901 Facioscapulohumeral muscular dystrophy 2;
NM_015295.3(SMCHD1):c.4104C>T (p.Pro1368=)	23347	SMCHD1	Benign	rs117794949	RCV000251181\|RCV000536151;	N	MedGen:CN169374\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2750444	2750444	NC_000018.9:g.2750444C>T	ClinGen:CA8871383	C1834671 158901 Facioscapulohumeral muscular dystrophy 2;
NM_015295.3(SMCHD1):c.4105G>A (p.Val1369Ile)	23347	SMCHD1	Uncertain significance	rs375198512	RCV000392940\|RCV000706185;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2750445	2750445	18:g.2750445G>A	ClinGen:CA8871384	C1834671 158901 Facioscapulohumeral muscular dystrophy 2;
NM_015295.3(SMCHD1):c.4108C>T (p.Arg1370Cys)	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs942559171	RCV000517186\|RCV000639706\|RCV003139714;	N	MedGen:CN169374\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MedGen:CN517202	18	2750448	2750448	18:g.2750448C>T	ClinGen:CA295479500	C1834671 158901 Facioscapulohumeral muscular dystrophy 2;
NM_015295.3(SMCHD1):c.4108C>G (p.Arg1370Gly)	23347	SMCHD1	Uncertain significance	rs942559171	RCV000639709;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2750448	2750448	NC_000018.9:g.2750448C>G	ClinGen:CA401692162	C1834671 158901 Facioscapulohumeral muscular dystrophy 2;
NM_015295.3(SMCHD1):c.4115A>C (p.Asn1372Thr)	23347	SMCHD1	Uncertain significance	-1	RCV002014562;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2750455	2750455	2750455	-
NM_015295.3(SMCHD1):c.4117G>T (p.Val1373Phe)	23347	SMCHD1	Uncertain significance	-1	RCV003118926;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2750457	2750457	NC_000018.9:g.2750457G>T	-
NM_015295.3(SMCHD1):c.4119T>G (p.Val1373=)	23347	SMCHD1	Likely benign	rs780548113	RCV000892635\|RCV001428243;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2750459	2750459	18:g.2750459T>G	-
NM_015295.3(SMCHD1):c.4133A>G (p.Asp1378Gly)	23347	SMCHD1	Uncertain significance	-1	RCV002582758;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2750473	2750473	NC_000018.9:g.2750473A>G	-
NM_015295.3(SMCHD1):c.4137A>G (p.Ala1379=)	23347	SMCHD1	Benign	rs2304859	RCV000241559\|RCV000993034\|RCV001510270\|RCV001808710;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MONDO:MONDO:0011323,MedGen:C1863878,OMIM:603457, Orphanet:1135, Orphanet:2250	18	2750477	2750477	18:g.2750477A>G	ClinGen:CA8871389	CN169374 not specified;
NM_015295.3(SMCHD1):c.4153G>T (p.Gly1385Cys)	23347	SMCHD1	Uncertain significance	rs774329481	RCV000282444\|RCV002518130;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2750493	2750493	18:g.2750493G>T	ClinGen:CA8871392	CN169374 not specified;
NM_015295.3(SMCHD1):c.4153G>A (p.Gly1385Ser)	23347	SMCHD1	Uncertain significance	rs774329481	RCV001860167\|RCV000592396;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MedGen:CN517202	18	2750493	2750493	18:g.2750493G>A	ClinGen:CA401692347	CN169374 not specified;
NM_015295.3(SMCHD1):c.4166-15C>T	23347	SMCHD1	Likely benign	-1	RCV002112070;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2751261	2751261	2751261	-
NM_015295.3(SMCHD1):c.4166-14G>A	23347	SMCHD1	Benign	-1	RCV002658426;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2751262	2751262	NC_000018.9:g.2751262G>A	-
NM_015295.3(SMCHD1):c.4166-9C>T	23347	SMCHD1	Likely benign	-1	RCV002120595;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2751267	2751267	2751267	-
NM_015295.3(SMCHD1):c.4166-7A>G	23347	SMCHD1	Likely benign	-1	RCV002118842;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2751269	2751269	2751269	-
NM_015295.3(SMCHD1):c.4178G>C (p.Ser1393Thr)	23347	SMCHD1	Uncertain significance	rs369758530	RCV000593386\|RCV000639712;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2751288	2751288	18:g.2751288G>C	ClinGen:CA8871410	C1834671 158901 Facioscapulohumeral muscular dystrophy 2;
NM_015295.3(SMCHD1):c.4197C>G (p.Asp1399Glu)	23347	SMCHD1	Uncertain significance	-1	RCV002650729;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2751307	2751307	NC_000018.9:g.2751307C>G	-
NM_015295.3(SMCHD1):c.4201A>G (p.Ile1401Val)	23347	SMCHD1	Uncertain significance	-1	RCV001988078;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2751311	2751311	2751311	-
NM_015295.3(SMCHD1):c.4210A>G (p.Asn1404Asp)	23347	SMCHD1	Uncertain significance	-1	RCV002297772;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2751320	2751320	2751320	-
NM_015295.3(SMCHD1):c.4225C>T (p.Arg1409Cys)	23347	SMCHD1	Uncertain significance	-1	RCV001927731;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2751335	2751335	2751335	-
NM_015295.3(SMCHD1):c.4226G>A (p.Arg1409His)	23347	SMCHD1	Uncertain significance	rs746741499	RCV000730315\|RCV002535150;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2751336	2751336	NC_000018.9:g.2751336G>A	-
NM_015295.3(SMCHD1):c.4231dup (p.Ser1411fs)	23347	SMCHD1	Pathogenic	rs2075566961	RCV001070237;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2751338	2751339	18:g.2751338_2751339insT	-
NM_015295.3(SMCHD1):c.4255A>G (p.Thr1419Ala)	23347	SMCHD1	Uncertain significance	rs191487554	RCV000639703\|RCV000729724;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MedGen:CN517202	18	2751365	2751365	18:g.2751365A>G	ClinGen:CA8871420	C1834671 158901 Facioscapulohumeral muscular dystrophy 2;
NM_015295.3(SMCHD1):c.4266C>G (p.Asn1422Lys)	23347	SMCHD1	Uncertain significance	-1	RCV003017228;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2751376	2751376	NC_000018.9:g.2751376C>G	-
NM_015295.3(SMCHD1):c.4272C>A (p.Pro1424=)	23347	SMCHD1	Likely benign	-1	RCV002153425;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2751382	2751382	2751382	-
NM_015295.3(SMCHD1):c.4281T>C (p.Asn1427=)	23347	SMCHD1	Uncertain significance	-1	RCV001906569\|RCV003136286;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MedGen:CN517202	18	2751391	2751391	2751391	-
NM_015295.3(SMCHD1):c.4281+10G>A	23347	SMCHD1	Likely benign	-1	RCV002886378;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2751401	2751401	NC_000018.9:g.2751401G>A	-
NM_015295.3(SMCHD1):c.4281+14A>C	23347	SMCHD1	Likely benign	-1	RCV002127596;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2751405	2751405	2751405	-
NM_015295.3(SMCHD1):c.4281+17A>G	23347	SMCHD1	Likely benign	-1	RCV002199143;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2751408	2751408	2751408	-
NM_015295.3(SMCHD1):c.4282-16C>T	23347	SMCHD1	Likely benign	-1	RCV002086475;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2752470	2752470	2752470	-
NM_015295.3(SMCHD1):c.4282-5dup	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs752013568	RCV002062021\|RCV000592055;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MedGen:CN517202	18	2752478	2752479	18:g.2752478_2752479insT	ClinGen:CA8871440	CN169374 not specified;
NM_015295.3(SMCHD1):c.4282-8C>G	23347	SMCHD1	Likely benign	-1	RCV002630601;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2752478	2752478	NC_000018.9:g.2752478C>G	-
NM_015295.3(SMCHD1):c.4282G>A (p.Ala1428Thr)	23347	SMCHD1	Uncertain significance	-1	RCV002790128;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2752486	2752486	NC_000018.9:g.2752486G>A	-
NM_015295.3(SMCHD1):c.4306A>G (p.Ile1436Val)	23347	SMCHD1	Uncertain significance	rs371280641	RCV000265388\|RCV001374308\|RCV002521922;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MeSH:D030342,MedGen:C0950123	18	2752510	2752510	18:g.2752510A>G	ClinGen:CA8871444	CN169374 not specified;
NM_015295.3(SMCHD1):c.4314T>A (p.Asp1438Glu)	23347	SMCHD1	Uncertain significance	-1	RCV001978988;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2752518	2752518	2752518	-
NM_015295.3(SMCHD1):c.4314T>G (p.Asp1438Glu)	23347	SMCHD1	Uncertain significance	-1	RCV001909236;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2752518	2752518	2752518	-
NM_015295.3(SMCHD1):c.4316A>G (p.Asn1439Ser)	23347	SMCHD1	Uncertain significance	-1	RCV001364619\|RCV002471097\|RCV003136031;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MONDO:MONDO:0011323,MedGen:C1863878,OMIM:603457, Orphanet:1135, Orphanet:2250\|MedGen:CN517202	18	2752520	2752520	2752520	-
NM_015295.3(SMCHD1):c.4320C>T (p.Asp1440=)	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs374154803	RCV000378735\|RCV001087531;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2752524	2752524	18:g.2752524C>T	ClinGen:CA8871446	CN169374 not specified;
NM_015295.3(SMCHD1):c.4346+14C>T	23347	SMCHD1	Likely benign	-1	RCV002932382;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2752564	2752564	NC_000018.9:g.2752564C>T	-
NM_015295.3(SMCHD1):c.4347-19_4347-15del	23347	SMCHD1	Likely benign	-1	RCV002147517;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2760628	2760632	2760627	-
NC_000018.9:g.(?_2760630)_(2802550_?)del	23347	SMCHD1	Uncertain significance	-1	RCV003119571;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2760630	2802550		-
NM_015295.3(SMCHD1):c.4347-12T>C	23347	SMCHD1	Likely benign	-1	RCV002121779;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2760638	2760638	2760638	-
NM_015295.3(SMCHD1):c.4369G>C (p.Val1457Leu)	23347	SMCHD1	Uncertain significance	rs371144443	RCV001232275;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2760672	2760672	18:g.2760672G>C	-
NM_015295.3(SMCHD1):c.4428T>A (p.Ser1476Arg)	23347	SMCHD1	Uncertain significance	-1	RCV003009393;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2760731	2760731	NC_000018.9:g.2760731T>A	-
NM_015295.3(SMCHD1):c.4434+17dup	23347	SMCHD1	Benign	-1	RCV002915021;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2760747	2760748	NC_000018.9:g.2760754dup	-
NM_015295.3(SMCHD1):c.4434+17del	23347	SMCHD1	Benign	-1	RCV002119127;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2760748	2760748	2760747	-
NM_015295.3(SMCHD1):c.4434+14T>G	23347	SMCHD1	Likely benign	-1	RCV002094092;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2760751	2760751	2760751	-
NM_015295.3(SMCHD1):c.4434+18A>G	23347	SMCHD1	Likely benign	-1	RCV002180859;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2760755	2760755	2760755	-
NM_015295.3(SMCHD1):c.4435-15C>A	23347	SMCHD1	Likely benign	-1	RCV002716345;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2762088	2762088	NC_000018.9:g.2762088C>A	-
NM_015295.3(SMCHD1):c.4441G>A (p.Val1481Ile)	23347	SMCHD1	Uncertain significance	rs1598416020	RCV000805391;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2762109	2762109	18:g.2762109G>A	-
NM_015295.3(SMCHD1):c.4443T>C (p.Val1481=)	23347	SMCHD1	Likely benign	rs369643056	RCV000983261;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2762111	2762111	18:g.2762111T>C	-
NM_015295.3(SMCHD1):c.4452G>C (p.Leu1484=)	23347	SMCHD1	Likely benign	-1	RCV001728190\|RCV002538696;	N	Human Phenotype Ontology:HP:0000783,Human Phenotype Ontology:HP:0003691,MedGen:C0240953\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2762120	2762120	2762120	-
NM_015295.3(SMCHD1):c.4452G>A (p.Leu1484_Pro1485=)	23347	SMCHD1	Likely benign	-1	RCV002797100;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2762120	2762120	NC_000018.9:g.2762120G>A	-
NM_015295.3(SMCHD1):c.4461A>G (p.Gln1487=)	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs763699437	RCV000729503\|RCV001862173;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2762129	2762129	NC_000018.9:g.2762129A>G	-
NM_015295.3(SMCHD1):c.4470G>A (p.Lys1490_Leu1491=)	23347	SMCHD1	Likely benign	-1	RCV002914170;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2762138	2762138	NC_000018.9:g.2762138G>A	-
NM_015295.3(SMCHD1):c.4474G>C (p.Val1492Leu)	23347	SMCHD1	Uncertain significance	-1	RCV003020099;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2762142	2762142	NC_000018.9:g.2762142G>C	-
NM_015295.3(SMCHD1):c.4517G>A (p.Arg1506His)	23347	SMCHD1	Uncertain significance	rs756166672	RCV001238165;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2762185	2762185	18:g.2762185G>A	-
NM_015295.3(SMCHD1):c.4521A>G (p.Ser1507=)	23347	SMCHD1	Benign	-1	RCV001515032;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2762189	2762189	2762189	-
NM_015295.3(SMCHD1):c.4524T>A (p.Val1508_Ala1509=)	23347	SMCHD1	Likely benign	-1	RCV003067219;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2762192	2762192	NC_000018.9:g.2762192T>A	-
NM_015295.3(SMCHD1):c.4544G>A (p.Arg1515Lys)	23347	SMCHD1	Uncertain significance	-1	RCV001909009;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2762212	2762212	2762212	-
NM_015295.3(SMCHD1):c.4547A>T (p.Asp1516Val)	23347	SMCHD1	Uncertain significance	-1	RCV002796441;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2762215	2762215	NC_000018.9:g.2762215A>T	-
NM_015295.3(SMCHD1):c.4553A>C (p.His1518Pro)	23347	SMCHD1	Uncertain significance	-1	RCV002027439;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2762221	2762221	2762221	-
NM_015295.3(SMCHD1):c.4558A>T (p.Ser1520Cys)	23347	SMCHD1	Uncertain significance	-1	RCV001363483;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2762226	2762226	2762226	-
NM_015295.3(SMCHD1):c.4565C>T (p.Thr1522Met)	23347	SMCHD1	Uncertain significance	-1	RCV002045069;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2762233	2762233	2762233	-
NM_015295.3(SMCHD1):c.4566G>A (p.Thr1522=)	23347	SMCHD1	Pathogenic	rs1598416221	RCV000033086\|RCV003137554;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MedGen:CN517202	18	2762234	2762234	18:g.2762234G>A	OMIM:614982.0005	C1834671 158901 Facioscapulohumeral muscular dystrophy 2;
NM_015295.3(SMCHD1):c.4566+20A>G	23347	SMCHD1	Likely benign	-1	RCV002636317;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2762254	2762254	NC_000018.9:g.2762254A>G	-
NC_000018.9:g.(?_2763625)_(2763797_?)del	23347	SMCHD1	Uncertain significance	-1	RCV001339459;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2763625	2763797	-1	-
NM_015295.3(SMCHD1):c.4567-9dup	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs772038791	RCV000329002\|RCV002518865;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2763626	2763626	18:g.2763620_2763621insT	ClinGen:CA8871525	CN169374 not specified;
NM_015295.3(SMCHD1):c.4567-4T>C	23347	SMCHD1	Likely benign	-1	RCV001393120;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2763631	2763631	2763631	-
NM_015295.3(SMCHD1):c.4575C>T (p.Tyr1525=)	23347	SMCHD1	Likely benign	-1	RCV002095602;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2763643	2763643	2763643	-
NM_015295.3(SMCHD1):c.4576G>A (p.Asp1526Asn)	23347	SMCHD1	Uncertain significance	rs1198273154	RCV001345746;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2763644	2763644	2763644	-
NM_015295.3(SMCHD1):c.4585A>G (p.Thr1529Ala)	23347	SMCHD1	Uncertain significance	-1	RCV003052788;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2763653	2763653	NC_000018.9:g.2763653A>G	-
NM_015295.3(SMCHD1):c.4598T>C (p.Leu1533Ser)	23347	SMCHD1	Uncertain significance	rs368255259	RCV000325415\|RCV000546576;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2763666	2763666	18:g.2763666T>C	ClinGen:CA8871530	C1834671 158901 Facioscapulohumeral muscular dystrophy 2;
NM_015295.3(SMCHD1):c.4599G>T (p.Leu1533Phe)	23347	SMCHD1	Uncertain significance	rs770018521	RCV000592922\|RCV001341097;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2763667	2763667	18:g.2763667G>T	ClinGen:CA8871531	CN169374 not specified;
NM_015295.3(SMCHD1):c.4601T>C (p.Val1534Ala)	23347	SMCHD1	Uncertain significance	rs1555650440	RCV000556706;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2763669	2763669	18:g.2763669T>C	ClinGen:CA401696730	C1834671 158901 Facioscapulohumeral muscular dystrophy 2;
NM_015295.3(SMCHD1):c.4609A>G (p.Ile1537Val)	23347	SMCHD1	Uncertain significance	rs749634060	RCV001236496;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2763677	2763677	18:g.2763677A>G	-
NM_015295.3(SMCHD1):c.4615G>T (p.Ala1539Ser)	23347	SMCHD1	Uncertain significance	-1	RCV001945464;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2763683	2763683	2763683	-
NM_015295.3(SMCHD1):c.4629C>T (p.Gly1543=)	23347	SMCHD1	Benign	rs483547	RCV000250084\|RCV001517102\|RCV001668546;	N	MedGen:CN169374\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MedGen:CN517202	18	2763697	2763697	NC_000018.9:g.2763697C>T	ClinGen:CA8871537	CN169374 not specified;
NM_015295.3(SMCHD1):c.4634A>T (p.Asn1545Ile)	23347	SMCHD1	Uncertain significance	rs776704924	RCV001223191;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2763702	2763702	18:g.2763702A>T	-
NM_015295.3(SMCHD1):c.4652C>A (p.Thr1551Asn)	23347	SMCHD1	Uncertain significance	-1	RCV002011305;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2763720	2763720	2763720	-
NM_015295.3(SMCHD1):c.4664T>C (p.Ile1555Thr)	23347	SMCHD1	Uncertain significance	-1	RCV002618631;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2763732	2763732	NC_000018.9:g.2763732T>C	-
NM_015295.3(SMCHD1):c.4680A>G (p.Thr1560_Leu1561=)	23347	SMCHD1	Likely benign	-1	RCV002975987;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2763748	2763748	NC_000018.9:g.2763748A>G	-
NM_015295.3(SMCHD1):c.4696G>A (p.Val1566Met)	23347	SMCHD1	Uncertain significance	rs569043880	RCV000729833\|RCV001067185;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2763764	2763764	NC_000018.9:g.2763764G>A	-
NM_015295.3(SMCHD1):c.4700A>G (p.Asn1567Ser)	23347	SMCHD1	Uncertain significance	rs750920961	RCV000996632\|RCV001858840;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2763768	2763768	18:g.2763768A>G	-
NM_015295.3(SMCHD1):c.4706C>T (p.Ser1569Leu)	23347	SMCHD1	Uncertain significance	-1	RCV002637241;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2763774	2763774	NC_000018.9:g.2763774C>T	-
NM_015295.3(SMCHD1):c.4717A>G (p.Met1573Val)	23347	SMCHD1	Uncertain significance	rs1428214885	RCV001208964;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2763785	2763785	18:g.2763785A>G	-
NM_015295.3(SMCHD1):c.4719+1G>T	23347	SMCHD1	Likely pathogenic	rs886044369	RCV000639707;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2763788	2763788	NC_000018.9:g.2763788G>T	ClinGen:CA401697665	C1834671 158901 Facioscapulohumeral muscular dystrophy 2;
NM_015295.3(SMCHD1):c.4719+14A>G	23347	SMCHD1	Likely benign	-1	RCV002716463;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2763801	2763801	NC_000018.9:g.2763801A>G	-
NM_015295.3(SMCHD1):c.4720-10A>G	23347	SMCHD1	Likely benign	-1	RCV003121278;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2769682	2769682	NC_000018.9:g.2769682A>G	-
NM_015295.3(SMCHD1):c.4752G>A (p.Arg1584=)	23347	SMCHD1	Likely benign	-1	RCV001403258;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2769724	2769724	2769724	-
NM_015295.3(SMCHD1):c.4773T>C (p.Ile1591_Val1592=)	23347	SMCHD1	Likely benign	-1	RCV002775097;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2769745	2769745	NC_000018.9:g.2769745T>C	-
NM_015295.3(SMCHD1):c.4774G>T (p.Val1592Leu)	23347	SMCHD1	Uncertain significance	rs755339676	RCV000819206;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2769746	2769746	18:g.2769746G>T	-
NM_015295.3(SMCHD1):c.4783C>G (p.Pro1595Ala)	23347	SMCHD1	Uncertain significance	rs369179110	RCV000734885\|RCV001855823\|RCV002535398;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MeSH:D030342,MedGen:C0950123	18	2769755	2769755	NC_000018.9:g.2769755C>G	-
NM_015295.3(SMCHD1):c.4787G>A (p.Arg1596Gln)	23347	SMCHD1	Uncertain significance	rs770649222	RCV002530997\|RCV000592137;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MedGen:CN517202	18	2769759	2769759	18:g.2769759G>A	ClinGen:CA8871571	CN169374 not specified;
NM_015295.3(SMCHD1):c.4795C>A (p.Leu1599Ile)	23347	SMCHD1	Uncertain significance	rs780994607	RCV001349399;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2769767	2769767	2769767	-
NM_015295.3(SMCHD1):c.4798T>G (p.Leu1600Val)	23347	SMCHD1	Uncertain significance	rs769207224	RCV001296437;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2769770	2769770	2769770	-
NM_015295.3(SMCHD1):c.4808C>T (p.Thr1603Ile)	23347	SMCHD1	Benign/Likely benign	rs147034750	RCV000311972\|RCV000535300\|RCV001651309\|RCV002503989;	N	MedGen:CN169374\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MedGen:CN517202\|MONDO:MONDO:0011323,MedGen:C1863878,OMIM:603457, Orphanet:1135, Orphanet:2250; MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2769780	2769780	18:g.2769780C>T	ClinGen:CA8871575	C1834671 158901 Facioscapulohumeral muscular dystrophy 2;
NM_015295.3(SMCHD1):c.4810T>G (p.Leu1604Val)	23347	SMCHD1	Uncertain significance	-1	RCV001979863;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2769782	2769782	2769782	-
NM_015295.3(SMCHD1):c.4821dup (p.Ile1608fs)	23347	SMCHD1	Pathogenic	rs1568350731	RCV000696195;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2769792	2769793	NC_000018.9:g.2769793dup	-	C1834671 158901 Facioscapulohumeral muscular dystrophy 2;
NM_015295.3(SMCHD1):c.4825C>A (p.Leu1609Ile)	23347	SMCHD1	Uncertain significance	-1	RCV001876356;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2769797	2769797	2769797	-
NM_015295.3(SMCHD1):c.4827A>G (p.Leu1609=)	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs774077792	RCV000276739\|RCV001406858;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2769799	2769799	18:g.2769799A>G	ClinGen:CA8871578	CN169374 not specified;
NM_015295.3(SMCHD1):c.4828C>A (p.Pro1610Thr)	23347	SMCHD1	Uncertain significance	-1	RCV002746477;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2769800	2769800	NC_000018.9:g.2769800C>A	-
NM_015295.3(SMCHD1):c.4834A>T (p.Met1612Leu)	23347	SMCHD1	Uncertain significance	-1	RCV001987740;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2769806	2769806	2769806	-
NM_015295.3(SMCHD1):c.4846+20A>G	23347	SMCHD1	Likely benign	-1	RCV002791619;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2769838	2769838	NC_000018.9:g.2769838A>G	-
NM_015295.3(SMCHD1):c.4847-6dup	23347	SMCHD1	Benign	-1	RCV002084306;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2769973	2769974	2769973	-
NM_015295.3(SMCHD1):c.4847-6del	23347	SMCHD1	Benign	rs763328487	RCV000388858\|RCV002059158;	N	MedGen:CN169374\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2769981	2769981	18:g.2769974_2769974del	ClinGen:CA8871596	CN169374 not specified;
NM_015295.3(SMCHD1):c.4880C>A (p.Thr1627Lys)	23347	SMCHD1	Uncertain significance	rs2075948990	RCV001241381;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2770020	2770020	18:g.2770020C>A	-
NM_015295.3(SMCHD1):c.4894C>G (p.Gln1632Glu)	23347	SMCHD1	Uncertain significance	rs1365539591	RCV000550055\|RCV000591992;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MedGen:CN517202	18	2770034	2770034	18:g.2770034C>G	ClinGen:CA401682176	C1834671 158901 Facioscapulohumeral muscular dystrophy 2;
NM_015295.3(SMCHD1):c.4909A>G (p.Ile1637Val)	23347	SMCHD1	Uncertain significance	-1	RCV002952388;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2770049	2770049	NC_000018.9:g.2770049A>G	-
NM_015295.3(SMCHD1):c.4912G>A (p.Val1638Ile)	23347	SMCHD1	Uncertain significance	rs370473143	RCV000597780\|RCV001867968;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2770052	2770052	18:g.2770052G>A	ClinGen:CA8871604	CN169374 not specified;
NM_015295.3(SMCHD1):c.4924A>T (p.Ser1642Cys)	23347	SMCHD1	Uncertain significance	-1	RCV002015895;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2770064	2770064	2770064	-
NM_015295.3(SMCHD1):c.4938C>T (p.Ala1646=)	23347	SMCHD1	Likely benign	-1	RCV002204996;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2770078	2770078	2770078	-
NM_015295.3(SMCHD1):c.4945C>G (p.Gln1649Glu)	23347	SMCHD1	Uncertain significance	-1	RCV002006241;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2770085	2770085	2770085	-
NM_015295.3(SMCHD1):c.4947G>A (p.Gln1649=)	23347	SMCHD1	Likely benign	-1	RCV002116620;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2770087	2770087	2770087	-
NM_015295.3(SMCHD1):c.4950T>G (p.Leu1650=)	23347	SMCHD1	Likely benign	-1	RCV002216996;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2770090	2770090	2770090	-
NM_015295.3(SMCHD1):c.4956T>G (p.Asn1652Lys)	23347	SMCHD1	Uncertain significance	-1	RCV002582291\|RCV002602570;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MeSH:D030342,MedGen:C0950123	18	2770096	2770096	NC_000018.9:g.2770096T>G	-
NM_015295.3(SMCHD1):c.4966+19A>G	23347	SMCHD1	Likely benign	-1	RCV002111911;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2770125	2770125	2770125	-
NM_015295.3(SMCHD1):c.4967-20T>C	23347	SMCHD1	Likely benign	-1	RCV003065997;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2771511	2771511	NC_000018.9:g.2771511T>C	-
NM_015295.3(SMCHD1):c.4967-15G>T	23347	SMCHD1	Benign	rs300291	RCV000247015\|RCV001660327\|RCV001808711\|RCV002058261;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0011323,MedGen:C1863878,OMIM:603457, Orphanet:1135, Orphanet:2250\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2771516	2771516	18:g.2771516G>T	ClinGen:CA8871630	CN169374 not specified;
NM_015295.3(SMCHD1):c.4967-13T>G	23347	SMCHD1	Likely benign	-1	RCV002113767;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2771518	2771518	2771518	-
NM_015295.3(SMCHD1):c.4967-8T>C	23347	SMCHD1	Likely benign	-1	RCV003071914;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2771523	2771523	NC_000018.9:g.2771523T>C	-
NM_015295.3(SMCHD1):c.5001A>G (p.Gln1667=)	23347	SMCHD1	Likely benign	-1	RCV002188076;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2771565	2771565	2771565	-
NM_015295.3(SMCHD1):c.5002T>C (p.Leu1668=)	23347	SMCHD1	Likely benign	-1	RCV002185205;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2771566	2771566	2771566	-
NM_015295.3(SMCHD1):c.5006G>A (p.Arg1669Gln)	23347	SMCHD1	Uncertain significance	rs368367743	RCV000363995\|RCV001060600\|RCV002518937;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MeSH:D030342,MedGen:C0950123	18	2771570	2771570	18:g.2771570G>A	ClinGen:CA8871638	CN169374 not specified;
NM_015295.3(SMCHD1):c.5016A>G (p.Leu1672=)	23347	SMCHD1	Likely benign	-1	RCV001455119;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2771580	2771580	2771580	-
NM_015295.3(SMCHD1):c.5020A>G (p.Ile1674Val)	23347	SMCHD1	Uncertain significance	-1	RCV003083316;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2771584	2771584	NC_000018.9:g.2771584A>G	-
NM_015295.3(SMCHD1):c.5024A>G (p.His1675Arg)	23347	SMCHD1	Uncertain significance	rs201071071	RCV000275554\|RCV001342182;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2771588	2771588	18:g.2771588A>G	ClinGen:CA8871640	CN169374 not specified;
NM_015295.3(SMCHD1):c.5038C>G (p.Pro1680Ala)	23347	SMCHD1	Uncertain significance	rs769986044	RCV000273290\|RCV002518151;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2771602	2771602	18:g.2771602C>G	ClinGen:CA10606934	CN169374 not specified;
NM_015295.3(SMCHD1):c.5044A>G (p.Thr1682Ala)	23347	SMCHD1	Uncertain significance	-1	RCV001995866;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2771608	2771608	2771608	-
NM_015295.3(SMCHD1):c.5046A>G (p.Thr1682=)	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs886043784	RCV000317964\|RCV002059231;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2771610	2771610	18:g.2771610A>G	ClinGen:CA10605943	CN169374 not specified;
NM_015295.3(SMCHD1):c.5052+16A>G	23347	SMCHD1	Uncertain significance	-1	RCV003026409;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2771632	2771632	NC_000018.9:g.2771632A>G	-
NM_015295.3(SMCHD1):c.5052+19C>T	23347	SMCHD1	Likely benign	-1	RCV002756976;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2771635	2771635	NC_000018.9:g.2771635C>T	-
NM_015295.3(SMCHD1):c.5052+20G>T	23347	SMCHD1	Likely benign	-1	RCV002142047;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2771636	2771636	2771636	-
NM_015295.3(SMCHD1):c.5053-10T>A	23347	SMCHD1	Likely benign	rs1598429596	RCV000941406\|RCV001399781;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2772238	2772238	18:g.2772238T>A	-
NM_015295.3(SMCHD1):c.5079A>G (p.Lys1693=)	23347	SMCHD1	Likely benign	-1	RCV002090472;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2772274	2772274	2772274	-
NM_015295.3(SMCHD1):c.5081G>C (p.Arg1694Thr)	23347	SMCHD1	Uncertain significance	-1	RCV002942875;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2772276	2772276	NC_000018.9:g.2772276G>C	-
NM_015295.3(SMCHD1):c.5095C>G (p.Gln1699Glu)	23347	SMCHD1	Uncertain significance	-1	RCV002576781;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2772290	2772290	NC_000018.9:g.2772290C>G	-
NM_015295.3(SMCHD1):c.5126C>T (p.Ser1709Leu)	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs151311806	RCV000251991\|RCV000726283\|RCV001854965;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2772321	2772321	18:g.2772321C>T	ClinGen:CA8871665	CN169374 not specified;
NM_015295.3(SMCHD1):c.5127G>T (p.Ser1709=)	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs371834462	RCV000731981\|RCV001078602;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2772322	2772322	NC_000018.9:g.2772322G>T	-
NM_015295.3(SMCHD1):c.5127G>A (p.Ser1709=)	23347	SMCHD1	Likely benign	rs371834462	RCV000876413\|RCV001311892;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MedGen:CN517202	18	2772322	2772322	18:g.2772322G>A	-
NM_015295.3(SMCHD1):c.5131A>G (p.Thr1711Ala)	23347	SMCHD1	Uncertain significance	-1	RCV002624212;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2772326	2772326	NC_000018.9:g.2772326A>G	-
NM_015295.3(SMCHD1):c.5145_5146del (p.Tyr1715_Thr1716insTer)	23347	SMCHD1	Likely pathogenic	-1	RCV002290227;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2772338	2772339	2772337	-
NM_015295.3(SMCHD1):c.5155A>G (p.Ser1719Gly)	23347	SMCHD1	Uncertain significance	rs201221497	RCV000304621\|RCV002521907;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2772350	2772350	18:g.2772350A>G	ClinGen:CA8871671	CN169374 not specified;
NM_015295.3(SMCHD1):c.5157T>A (p.Ser1719Arg)	23347	SMCHD1	Uncertain significance	-1	RCV002595270;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2772352	2772352	NC_000018.9:g.2772352T>A	-
NM_015295.3(SMCHD1):c.5162A>G (p.Asp1721Gly)	23347	SMCHD1	Uncertain significance	-1	RCV002700188;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2772357	2772357	NC_000018.9:g.2772357A>G	-
NM_015295.3(SMCHD1):c.5175+11A>G	23347	SMCHD1	Likely benign	-1	RCV003067054;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2772381	2772381	NC_000018.9:g.2772381A>G	-
NM_015295.3(SMCHD1):c.5175+22del	23347	SMCHD1	Benign	-1	RCV002926586;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2772389	2772389	NC_000018.9:g.2772392del	-
NM_015295.3(SMCHD1):c.5176-20T>C	23347	SMCHD1	Likely benign	-1	RCV002902909;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2775712	2775712	NC_000018.9:g.2775712T>C	-
NM_015295.3(SMCHD1):c.5176-16T>C	23347	SMCHD1	Likely benign	-1	RCV003005629;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2775716	2775716	NC_000018.9:g.2775716T>C	-
NM_015295.3(SMCHD1):c.5176-8G>A	23347	SMCHD1	Uncertain significance	-1	RCV001989379;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2775724	2775724	2775724	-
NM_015295.3(SMCHD1):c.5202T>C (p.Asp1734_Asp1735=)	23347	SMCHD1	Likely benign	-1	RCV002642880;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2775758	2775758	NC_000018.9:g.2775758T>C	-
NM_015295.3(SMCHD1):c.5214G>A (p.Ala1738_Met1739=)	23347	SMCHD1	Likely benign	-1	RCV002848125;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2775770	2775770	NC_000018.9:g.2775770G>A	-
NM_015295.3(SMCHD1):c.5235G>A (p.Leu1745_Ala1746=)	23347	SMCHD1	Uncertain significance	-1	RCV002886025;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2775791	2775791	NC_000018.9:g.2775791G>A	-
NM_015295.3(SMCHD1):c.5253T>C (p.Cys1751=)	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs1172138387	RCV000595788\|RCV001504141;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2775809	2775809	18:g.2775809T>C	ClinGen:CA502673571	CN169374 not specified;
NM_015295.3(SMCHD1):c.5262_5270del (p.Leu1755_Thr1757del)	23347	SMCHD1	Uncertain significance	rs2076057081	RCV001238181;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2775815	2775823	18:g.2775815_2775823del	-
NM_015295.3(SMCHD1):c.5274C>G (p.Asp1758Glu)	23347	SMCHD1	Uncertain significance	-1	RCV001360344;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2775830	2775830	2775830	-
NM_015295.3(SMCHD1):c.5275G>A (p.Ala1759Thr)	23347	SMCHD1	Uncertain significance	-1	RCV001368139;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2775831	2775831	2775831	-
NM_015295.3(SMCHD1):c.5281C>T (p.Arg1761Cys)	23347	SMCHD1	Uncertain significance	-1	RCV001937916\|RCV003136292;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MedGen:CN517202	18	2775837	2775837	2775837	-
NM_015295.3(SMCHD1):c.5284C>A (p.Arg1762Ser)	23347	SMCHD1	Uncertain significance	-1	RCV001799851\|RCV002541326;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2775840	2775840	2775840	-
NM_015295.3(SMCHD1):c.5285G>A (p.Arg1762His)	23347	SMCHD1	Uncertain significance	-1	RCV002578784\|RCV003138296;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MedGen:CN517202	18	2775841	2775841	NC_000018.9:g.2775841G>A	-
NM_015295.3(SMCHD1):c.5325C>T (p.Pro1775=)	23347	SMCHD1	Likely benign	-1	RCV002162790;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2775881	2775881	2775881	-
NM_015295.3(SMCHD1):c.5335A>G (p.Ile1779Val)	23347	SMCHD1	Uncertain significance	rs747553146	RCV000819587;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2775891	2775891	18:g.2775891A>G	-
NM_015295.3(SMCHD1):c.5356G>A (p.Asp1786Asn)	23347	SMCHD1	Uncertain significance	rs373881061	RCV000808721;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2775912	2775912	18:g.2775912G>A	-
NM_015295.3(SMCHD1):c.5358T>C (p.Asp1786_Trp1787=)	23347	SMCHD1	Likely benign	-1	RCV002646356;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2775914	2775914	NC_000018.9:g.2775914T>C	-
NM_015295.3(SMCHD1):c.5364A>G (p.Lys1788=)	23347	SMCHD1	Likely benign	-1	RCV002092210;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2775920	2775920	2775920	-
NM_015295.3(SMCHD1):c.5366+4A>G	23347	SMCHD1	Uncertain significance	-1	RCV002000322;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2775926	2775926	2775926	-
NM_015295.3(SMCHD1):c.5366+6A>G	23347	SMCHD1	Uncertain significance	rs771277442	RCV001237636;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2775928	2775928	18:g.2775928A>G	-
NM_015295.3(SMCHD1):c.5366+10A>G	23347	SMCHD1	Likely benign	-1	RCV002646458;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2775932	2775932	NC_000018.9:g.2775932A>G	-
NM_015295.3(SMCHD1):c.5367-14T>G	23347	SMCHD1	Likely benign	-1	RCV003066469;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2777790	2777790	NC_000018.9:g.2777790T>G	-
NM_015295.3(SMCHD1):c.5367-12C>T	23347	SMCHD1	Likely benign	-1	RCV002624553;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2777792	2777792	NC_000018.9:g.2777792C>T	-
NM_015295.3(SMCHD1):c.5367-7T>C	23347	SMCHD1	Likely benign	-1	RCV002624556;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2777797	2777797	NC_000018.9:g.2777797T>C	-
NM_015295.3(SMCHD1):c.5384G>A (p.Arg1795Gln)	23347	SMCHD1	Uncertain significance	-1	RCV002635368\|RCV002635367;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2777821	2777821	NC_000018.9:g.2777821G>A	-
NM_015295.3(SMCHD1):c.5387A>C (p.Asn1796Thr)	23347	SMCHD1	Uncertain significance	-1	RCV001936041;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2777824	2777824	2777824	-
NM_015295.3(SMCHD1):c.5391A>C (p.Gly1797=)	23347	SMCHD1	Likely benign	-1	RCV002213508;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2777828	2777828	2777828	-
NM_015295.3(SMCHD1):c.5396T>G (p.Leu1799Trp)	23347	SMCHD1	Uncertain significance	rs1008517374	RCV000733739\|RCV001070514;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2777833	2777833	NC_000018.9:g.2777833T>G	-
NM_015295.3(SMCHD1):c.5399A>G (p.Tyr1800Cys)	23347	SMCHD1	Uncertain significance	-1	RCV003085534;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2777836	2777836	NC_000018.9:g.2777836A>G	-
NM_015295.3(SMCHD1):c.5404A>C (p.Lys1802Gln)	23347	SMCHD1	Uncertain significance	-1	RCV002979100;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2777841	2777841	NC_000018.9:g.2777841A>C	-
NM_015295.3(SMCHD1):c.5409C>T (p.Pro1803_Ile1804=)	23347	SMCHD1	Likely benign	-1	RCV003086889;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2777846	2777846	NC_000018.9:g.2777846C>T	-
NM_015295.3(SMCHD1):c.5410A>T (p.Ile1804Phe)	23347	SMCHD1	Uncertain significance	-1	RCV003031218;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2777847	2777847	NC_000018.9:g.2777847A>T	-
NM_015295.3(SMCHD1):c.5411T>C (p.Ile1804Thr)	23347	SMCHD1	Uncertain significance	rs370249291	RCV000285351\|RCV001035805;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2777848	2777848	18:g.2777848T>C	ClinGen:CA8871719	CN169374 not specified;
NM_015295.3(SMCHD1):c.5437T>G (p.Leu1813Val)	23347	SMCHD1	Uncertain significance	-1	RCV002046906;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2777874	2777874	2777874	-
NM_015295.3(SMCHD1):c.5476+9_5476+10inv	23347	SMCHD1	Likely benign	-1	RCV000874768\|RCV001468381;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2777922	2777923	NC_000018.9:g.2777922_2777923inv	-
NM_015295.3(SMCHD1):c.5476+10A>G	23347	SMCHD1	Benign	rs3213926	RCV000243996\|RCV001510271\|RCV001597017\|RCV001808712;	N	MedGen:CN169374\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MedGen:CN517202\|MONDO:MONDO:0011323,MedGen:C1863878,OMIM:603457, Orphanet:1135, Orphanet:2250	18	2777923	2777923	18:g.2777923A>G	ClinGen:CA8871724	CN169374 not specified;
NM_015295.3(SMCHD1):c.5476+15G>A	23347	SMCHD1	Likely benign	-1	RCV002908521;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2777928	2777928	NC_000018.9:g.2777928G>A	-
NM_015295.3(SMCHD1):c.5476+16G>T	23347	SMCHD1	Likely benign	-1	RCV002577119;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2777929	2777929	NC_000018.9:g.2777929G>T	-
NM_015295.3(SMCHD1):c.5476+19A>G	23347	SMCHD1	Likely benign	-1	RCV002587719;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2777932	2777932	NC_000018.9:g.2777932A>G	-
NM_015295.3(SMCHD1):c.5477-16T>C	23347	SMCHD1	Likely benign	-1	RCV002193830;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2778151	2778151	2778151	-
NM_015295.3(SMCHD1):c.5477-13T>C	23347	SMCHD1	Likely benign	-1	RCV002217955;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2778154	2778154	2778154	-
NM_015295.3(SMCHD1):c.5477-3dup	23347	SMCHD1	Benign	-1	RCV002806590;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2778158	2778159	NC_000018.9:g.2778164dup	-
NM_015295.3(SMCHD1):c.5478A>G (p.Val1826=)	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs886043464	RCV000366096\|RCV001431387;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2778168	2778168	18:g.2778168A>G	ClinGen:CA10605551	CN169374 not specified;
NM_015295.3(SMCHD1):c.5526G>A (p.Ala1842=)	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs760266416	RCV000732611\|RCV002535284;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2778216	2778216	NC_000018.9:g.2778216G>A	-
NM_015295.3(SMCHD1):c.5538T>C (p.Tyr1846_Arg1847=)	23347	SMCHD1	Uncertain significance	-1	RCV002933758;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2778228	2778228	NC_000018.9:g.2778228T>C	-
NM_015295.3(SMCHD1):c.5547+19T>C	23347	SMCHD1	Likely benign	-1	RCV002133910;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2778256	2778256	2778256	-
NM_015295.3(SMCHD1):c.5547+20T>C	23347	SMCHD1	Likely benign	-1	RCV002098147;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2778257	2778257	2778257	-
NM_015295.3(SMCHD1):c.5548-10T>C	23347	SMCHD1	Likely benign	-1	RCV002617646;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2784438	2784438	NC_000018.9:g.2784438T>C	-
NM_015295.3(SMCHD1):c.5625C>T (p.Gly1875=)	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs886044408	RCV000320683\|RCV002059283;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2784525	2784525	18:g.2784525C>T	ClinGen:CA10606717	CN169374 not specified;
NM_015295.3(SMCHD1):c.5646A>C (p.Pro1882=)	23347	SMCHD1	Likely benign	rs557482877	RCV000639718;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2784546	2784546	18:g.2784546A>C	ClinGen:CA8871757	C1834671 158901 Facioscapulohumeral muscular dystrophy 2;
NM_015295.3(SMCHD1):c.5650G>C (p.Asp1884His)	23347	SMCHD1	Uncertain significance	-1	RCV001875103;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2784550	2784550	2784550	-
NM_015295.3(SMCHD1):c.5686C>G (p.Pro1896Ala)	23347	SMCHD1	Uncertain significance	-1	RCV002755177;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2784586	2784586	NC_000018.9:g.2784586C>G	-
NM_015295.3(SMCHD1):c.5696G>A (p.Cys1899Tyr)	23347	SMCHD1	Uncertain significance	-1	RCV002824568;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2784596	2784596	NC_000018.9:g.2784596G>A	-
NM_015295.3(SMCHD1):c.5697T>C (p.Cys1899=)	23347	SMCHD1	Likely benign	-1	RCV002107474;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2784597	2784597	2784597	-
NM_015295.3(SMCHD1):c.5719+10A>G	23347	SMCHD1	Likely benign	-1	RCV001479503;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2784629	2784629	2784629	-
NC_000018.9:g.(?_2795927)_(2802550_?)dup	23347	SMCHD1	Uncertain significance	-1	RCV001918951;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2795927	2802550	-1	-
NM_015295.3(SMCHD1):c.5720-5T>C	23347	SMCHD1	Likely benign	-1	RCV002851908;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2795942	2795942	NC_000018.9:g.2795942T>C	-
NM_015295.3(SMCHD1):c.5730G>A (p.Gln1910_Gln1911=)	23347	SMCHD1	Likely benign	-1	RCV002750108;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2795957	2795957	NC_000018.9:g.2795957G>A	-
NM_015295.3(SMCHD1):c.5737C>T (p.Arg1913Cys)	23347	SMCHD1	Uncertain significance	-1	RCV002024860;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2795964	2795964	2795964	-
NM_015295.3(SMCHD1):c.5773G>A (p.Asp1925Asn)	23347	SMCHD1	Uncertain significance	-1	RCV002613314;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2796000	2796000	NC_000018.9:g.2796000G>A	-
NM_015295.3(SMCHD1):c.5775T>A (p.Asp1925Glu)	23347	SMCHD1	Uncertain significance	rs374989057	RCV000639704;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2796002	2796002	18:g.2796002T>A	ClinGen:CA8871789	C1834671 158901 Facioscapulohumeral muscular dystrophy 2;
NM_015295.3(SMCHD1):c.5782A>G (p.Ser1928Gly)	23347	SMCHD1	Uncertain significance	rs1170346716	RCV001229634;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2796009	2796009	18:g.2796009A>G	-
NM_015295.3(SMCHD1):c.5787A>G (p.Gln1929=)	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs369084979	RCV000405877\|RCV002518131;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2796014	2796014	18:g.2796014A>G	ClinGen:CA8871793	CN169374 not specified;
NM_015295.3(SMCHD1):c.5800C>T (p.Arg1934Cys)	23347	SMCHD1	Uncertain significance	-1	RCV002862919;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2796027	2796027	NC_000018.9:g.2796027C>T	-
NM_015295.3(SMCHD1):c.5801G>A (p.Arg1934His)	23347	SMCHD1	Conflicting interpretations of pathogenicity	-1	RCV003068787\|RCV003081117;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MeSH:D030342,MedGen:C0950123	18	2796028	2796028	NC_000018.9:g.2796028G>A	-
NM_015295.3(SMCHD1):c.5808G>A (p.Pro1936_Asp1937=)	23347	SMCHD1	Likely benign	-1	RCV002624124;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2796035	2796035	NC_000018.9:g.2796035G>A	-
NM_015295.3(SMCHD1):c.5812A>G (p.Met1938Val)	23347	SMCHD1	Uncertain significance	rs1598460238	RCV000809795;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2796039	2796039	18:g.2796039A>G	-
NM_015295.3(SMCHD1):c.5878+3A>G	23347	SMCHD1	Uncertain significance	-1	RCV001937773;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2796108	2796108	2796108	-
NM_015295.3(SMCHD1):c.5878+8T>G	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs144115061	RCV000252296\|RCV000724994\|RCV001084843;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2796113	2796113	18:g.2796113T>G	ClinGen:CA8871800	CN169374 not specified;
NM_015295.3(SMCHD1):c.5878+12C>G	23347	SMCHD1	Benign/Likely benign	rs148698681	RCV000247335\|RCV002058262;	N	MedGen:CN169374\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2796117	2796117	NC_000018.9:g.2796117C>G	ClinGen:CA8871801	CN169374 not specified;
NM_015295.3(SMCHD1):c.5879-20T>C	23347	SMCHD1	Likely benign	-1	RCV002653810;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2796385	2796385	NC_000018.9:g.2796385T>C	-
NM_015295.3(SMCHD1):c.5879-17A>G	23347	SMCHD1	Likely benign	-1	RCV002086973;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2796388	2796388	2796388	-
NM_015295.3(SMCHD1):c.5881A>G (p.Met1961Val)	23347	SMCHD1	Uncertain significance	-1	RCV002715011;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2796407	2796407	NC_000018.9:g.2796407A>G	-
NM_015295.3(SMCHD1):c.5887C>G (p.Pro1963Ala)	23347	SMCHD1	Uncertain significance	rs1345578577	RCV001860180\|RCV000591605;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MedGen:CN517202	18	2796413	2796413	18:g.2796413C>G	ClinGen:CA401691464	CN169374 not specified;
NM_015295.3(SMCHD1):c.5889C>A (p.Pro1963=)	23347	SMCHD1	Likely benign	-1	RCV002072756;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2796415	2796415	2796415	-
NM_015295.3(SMCHD1):c.5893C>T (p.Arg1965Cys)	23347	SMCHD1	Uncertain significance	-1	RCV003087591\|RCV003138504;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MedGen:CN517202	18	2796419	2796419	NC_000018.9:g.2796419C>T	-
NM_015295.3(SMCHD1):c.5894G>C (p.Arg1965Pro)	23347	SMCHD1	Uncertain significance	rs755578313	RCV000593216\|RCV001867927;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2796420	2796420	18:g.2796420G>C	ClinGen:CA295491603	CN169374 not specified;
NM_015295.3(SMCHD1):c.5914C>T (p.Arg1972Cys)	23347	SMCHD1	Uncertain significance	rs778853203	RCV000730635\|RCV001855750;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2796440	2796440	NC_000018.9:g.2796440C>T	-
NM_015295.3(SMCHD1):c.5915G>A (p.Arg1972His)	23347	SMCHD1	Uncertain significance	rs747849441	RCV001229564;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2796441	2796441	18:g.2796441G>A	-
NM_015295.3(SMCHD1):c.5917C>T (p.His1973Tyr)	23347	SMCHD1	Uncertain significance	-1	RCV001939829;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2796443	2796443	2796443	-
NM_015295.3(SMCHD1):c.5936C>T (p.Thr1979Met)	23347	SMCHD1	Uncertain significance	-1	RCV001962617;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2796462	2796462	2796462	-
NM_015295.3(SMCHD1):c.5937G>A (p.Thr1979=)	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs776794549	RCV000315570\|RCV001401060;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2796463	2796463	18:g.2796463G>A	ClinGen:CA8871823	CN169374 not specified;
NM_015295.3(SMCHD1):c.5950G>T (p.Val1984Phe)	23347	SMCHD1	Uncertain significance	-1	RCV003052987;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2796476	2796476	NC_000018.9:g.2796476G>T	-
NM_015295.3(SMCHD1):c.5958T>A (p.Pro1986=)	23347	SMCHD1	Conflicting interpretations of pathogenicity	rs886042374	RCV000308073\|RCV002059103;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2796484	2796484	18:g.2796484T>A	ClinGen:CA10604139	CN169374 not specified;
NM_015295.3(SMCHD1):c.5973A>T (p.Arg1991=)	23347	SMCHD1	Likely benign	-1	RCV001473706;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2796499	2796499	2796499	-
NM_015295.3(SMCHD1):c.5993+3_5993+7dup	23347	SMCHD1	Likely benign	-1	RCV002962387;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2796520	2796521	NC_000018.9:g.2796522_2796526dup	-
NM_015295.3(SMCHD1):c.5993+16C>G	23347	SMCHD1	Likely benign	-1	RCV001906688;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2796535	2796535	2796535	-
NM_015295.3(SMCHD1):c.5994-12C>G	23347	SMCHD1	Likely benign	-1	RCV002133047;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2802514	2802514	2802514	-
NM_015295.3(SMCHD1):c.5994-6G>C	23347	SMCHD1	Likely benign	-1	RCV002857600;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2802520	2802520	NC_000018.9:g.2802520G>C	-
NM_015295.3(SMCHD1):c.6005A>C (p.Lys2002Thr)	23347	SMCHD1	Uncertain significance	rs959328	RCV000335607\|RCV001855196\|RCV002521985;	N	MedGen:CN517202\|MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269\|MeSH:D030342,MedGen:C0950123	18	2802537	2802537	18:g.2802537A>C	ClinGen:CA8871846	CN169374 not specified;
NM_015295.3(SMCHD1):c.6011A>G (p.Asp2004Gly)	23347	SMCHD1	Uncertain significance	-1	RCV001915373;	N	MONDO:MONDO:0008031,MedGen:C1834671,OMIM:158901, Orphanet:269	18	2802543	2802543	2802543	-

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