C1834671 - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 584363	NC_000018.9:g.(?_2656055)_(2656280_?)dup	LOC130062084, SMCHD1	Duplication	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 1962406	NM_015295.3(SMCHD1):c.11C>T (p.Ala4Val)	SMCHD1 (A4V)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 2157528	NM_015295.3(SMCHD1):c.15C>T (p.Asp5=)	SMCHD1	Single nucleotide variant (synonymous variant)	Facioscapulohumeral muscular dystrophy 2	GLikely benign
Select item 464163	NM_015295.3(SMCHD1):c.15C>A (p.Asp5Glu)	SMCHD1 (D5E)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 2859418	NM_015295.3(SMCHD1):c.17G>T (p.Gly6Val)	SMCHD1 (G6V)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 1008120	NM_015295.3(SMCHD1):c.19G>A (p.Gly7Ser)	SMCHD1 (G7S)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 2967894	NM_015295.3(SMCHD1):c.24G>T (p.Gly8=)	SMCHD1	Single nucleotide variant (synonymous variant)	Facioscapulohumeral muscular dystrophy 2	GLikely benign
Select item 2825093	NM_015295.3(SMCHD1):c.27T>C (p.Pro9=)	SMCHD1	Single nucleotide variant (synonymous variant)	Facioscapulohumeral muscular dystrophy 2	GLikely benign
Select item 1476309	NM_015295.3(SMCHD1):c.29G>T (p.Gly10Val)	SMCHD1 (G10V)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 1717380	NM_015295.3(SMCHD1):c.34G>A (p.Ala12Thr)	SMCHD1 (A12T)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 1363182	NM_015295.3(SMCHD1):c.35C>A (p.Ala12Asp)	SMCHD1 (A12D)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 500900	NM_015295.3(SMCHD1):c.37T>G (p.Ser13Ala)	SMCHD1 (S13A)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2 +2 more	GUncertain significance
Select item 2172653	NM_015295.3(SMCHD1):c.38C>T (p.Ser13Phe)	SMCHD1 (S13F)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 286236	NM_015295.3(SMCHD1):c.40G>A (p.Val14Met)	SMCHD1 (V14M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1991580	NM_015295.3(SMCHD1):c.43G>T (p.Gly15Trp)	SMCHD1 (G15W)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 1092058	NM_015295.3(SMCHD1):c.45G>A (p.Gly15=)	SMCHD1	Single nucleotide variant (synonymous variant)	Facioscapulohumeral muscular dystrophy 2	GLikely benign
Select item 1413238	NM_015295.3(SMCHD1):c.51GGA[1] (p.Glu18del)	SMCHD1 (E18del)	Microsatellite (inframe_deletion)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 499632	NM_015295.3(SMCHD1):c.54G>C (p.Glu18Asp)	SMCHD1 (E18D)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 283671	NM_015295.3(SMCHD1):c.55G>C (p.Asp19His)	SMCHD1 (D19H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 288490	NM_015295.3(SMCHD1):c.63A>G (p.Gly21=)	SMCHD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2854268	NM_015295.3(SMCHD1):c.71G>A (p.Gly24Asp)	SMCHD1 (G24D)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 2859837	NM_015295.3(SMCHD1):c.74A>G (p.His25Arg)	SMCHD1 (H25R)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 1405884	NM_015295.3(SMCHD1):c.76A>T (p.Arg26Trp)	SMCHD1 (R26W)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 1004868	NM_015295.3(SMCHD1):c.79A>G (p.Thr27Ala)	SMCHD1 (T27A)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 955145	NM_015295.3(SMCHD1):c.87C>A (p.Tyr29Ter)	SMCHD1 (Y29*)	Single nucleotide variant (nonsense)	Facioscapulohumeral muscular dystrophy 2	GPathogenic
Select item 499693	NM_015295.3(SMCHD1):c.90G>A (p.Leu30=)	SMCHD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2168463	NM_015295.3(SMCHD1):c.105A>G (p.Glu35=)	SMCHD1	Single nucleotide variant (synonymous variant)	Facioscapulohumeral muscular dystrophy 2	GLikely benign
Select item 2051994	NM_015295.3(SMCHD1):c.109G>A (p.Glu37Lys)	SMCHD1 (E37K)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 1929878	NM_015295.3(SMCHD1):c.114C>A (p.Ser38=)	SMCHD1	Single nucleotide variant (synonymous variant)	Facioscapulohumeral muscular dystrophy 2	GLikely benign
Select item 1635300	NM_015295.3(SMCHD1):c.114C>G (p.Ser38=)	SMCHD1	Single nucleotide variant (synonymous variant)	Facioscapulohumeral muscular dystrophy 2	GLikely benign
Select item 2762179	NM_015295.3(SMCHD1):c.120C>T (p.Leu40=)	SMCHD1	Single nucleotide variant (synonymous variant)	Facioscapulohumeral muscular dystrophy 2	GLikely benign
Select item 2782399	NM_015295.3(SMCHD1):c.131C>T (p.Pro44Leu)	SMCHD1 (P44L)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 2172097	NM_015295.3(SMCHD1):c.133C>T (p.Leu45=)	SMCHD1	Single nucleotide variant (synonymous variant)	Facioscapulohumeral muscular dystrophy 2	GLikely benign
Select item 2890123	NM_015295.3(SMCHD1):c.143G>C (p.Gly48Ala)	SMCHD1 (G48A)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 2075305	NM_015295.3(SMCHD1):c.148C>G (p.Arg50Gly)	SMCHD1 (R50G)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 281276	NM_015295.3(SMCHD1):c.150C>G (p.Arg50=)	SMCHD1	Single nucleotide variant (synonymous variant)	Facioscapulohumeral muscular dystrophy 2 +1 more	GConflicting classifications of pathogenicity
Select item 1059030	NM_015295.3(SMCHD1):c.160G>A (p.Ala54Thr)	SMCHD1 (A54T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 593334	NM_015295.3(SMCHD1):c.162G>A (p.Ala54=)	SMCHD1	Single nucleotide variant (synonymous variant)	Facioscapulohumeral muscular dystrophy 2 +1 more	GConflicting classifications of pathogenicity
Select item 288796	NM_015295.3(SMCHD1):c.162G>T (p.Ala54=)	SMCHD1	Single nucleotide variant (synonymous variant)	SMCHD1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2720134	NM_015295.3(SMCHD1):c.169C>T (p.Arg57Cys)	SMCHD1 (R57C)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 1012230	NM_015295.3(SMCHD1):c.182_183dup (p.Gln62fs)	LOC130062084, SMCHD1 (Q62fs)	Microsatellite (frameshift variant)	Facioscapulohumeral muscular dystrophy 2	GPathogenic
Select item 1913208	NM_015295.3(SMCHD1):c.174G>T (p.Ala58=)	LOC130062084, SMCHD1	Single nucleotide variant (synonymous variant)	Facioscapulohumeral muscular dystrophy 2	GLikely benign
Select item 1709897	NM_015295.3(SMCHD1):c.182_183del (p.Cys61fs)	LOC130062084, SMCHD1 (C61fs)	Microsatellite (frameshift variant)	Facioscapulohumeral muscular dystrophy 2	GLikely pathogenic
Select item 260632	NM_015295.3(SMCHD1):c.174G>C (p.Ala58=)	LOC130062084, SMCHD1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1005761	NM_015295.3(SMCHD1):c.176G>T (p.Cys59Phe)	LOC130062084, SMCHD1 (C59F)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 2771034	NM_015295.3(SMCHD1):c.185A>G (p.Gln62Arg)	LOC130062084, SMCHD1 (Q62R)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 2145892	NM_015295.3(SMCHD1):c.186+6C>G	LOC130062084, SMCHD1	Single nucleotide variant (intron variant)	SMCHD1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2695578	NM_015295.3(SMCHD1):c.186+7G>T	LOC130062084, SMCHD1	Single nucleotide variant (intron variant)	Facioscapulohumeral muscular dystrophy 2	GLikely benign
Select item 1656406	NM_015295.3(SMCHD1):c.186+16_186+46dup	LOC130062084, SMCHD1	Duplication (intron variant)	Facioscapulohumeral muscular dystrophy 2	GLikely benign
Select item 1454095	NM_015295.3(SMCHD1):c.186+14C>A	LOC130062084, SMCHD1	Single nucleotide variant (intron variant)	Facioscapulohumeral muscular dystrophy 2	GLikely benign
Select item 1665636	NM_015295.3(SMCHD1):c.186+20A>G	LOC130062084, SMCHD1	Single nucleotide variant (intron variant)	Facioscapulohumeral muscular dystrophy 2	GLikely benign
Select item 2003720	NM_015295.3(SMCHD1):c.187-14C>T	SMCHD1	Single nucleotide variant (intron variant)	Facioscapulohumeral muscular dystrophy 2	GLikely benign
Select item 2725526	NM_015295.3(SMCHD1):c.187-7T>C	SMCHD1	Single nucleotide variant (intron variant)	Facioscapulohumeral muscular dystrophy 2	GLikely benign
Select item 2832637	NM_015295.3(SMCHD1):c.189A>T (p.Thr63=)	SMCHD1	Single nucleotide variant (synonymous variant)	Facioscapulohumeral muscular dystrophy 2	GLikely benign
Select item 1446348	NM_015295.3(SMCHD1):c.190C>T (p.Leu64Phe)	SMCHD1 (L64F)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 1462001	NM_015295.3(SMCHD1):c.194G>A (p.Gly65Asp)	SMCHD1 (G65D)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 2958689	NM_015295.3(SMCHD1):c.200C>T (p.Ser67Leu)	SMCHD1 (S67L)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 860095	NM_015295.3(SMCHD1):c.202C>T (p.Pro68Ser)	SMCHD1 (P68S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1721916	NM_015295.3(SMCHD1):c.216T>G (p.Phe72Leu)	SMCHD1 (F72L)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 2682431	NM_015295.3(SMCHD1):c.230C>G (p.Thr77Arg)	SMCHD1 (T77R)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2 +1 more	GUncertain significance
Select item 286192	NM_015295.3(SMCHD1):c.244A>G (p.Ile82Val)	SMCHD1 (I82V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1022636	NM_015295.3(SMCHD1):c.247A>G (p.Thr83Ala)	SMCHD1 (T83A)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 1993263	NM_015295.3(SMCHD1):c.253G>T (p.Asp85Tyr)	SMCHD1 (D85Y)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 1341966	NM_015295.3(SMCHD1):c.261del (p.Phe87fs)	SMCHD1 (F87fs)	Deletion (frameshift variant)	Facioscapulohumeral muscular dystrophy 2	GPathogenic
Select item 2809690	NM_015295.3(SMCHD1):c.262+1G>A	SMCHD1	Single nucleotide variant (splice donor variant)	Facioscapulohumeral muscular dystrophy 2	GLikely pathogenic
Select item 1400019	NM_015295.3(SMCHD1):c.262+4G>A	SMCHD1	Single nucleotide variant (intron variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 2741703	NM_015295.3(SMCHD1):c.262+18C>T	SMCHD1	Single nucleotide variant (intron variant)	Facioscapulohumeral muscular dystrophy 2	GLikely benign
Select item 2901406	NM_015295.3(SMCHD1):c.262+20A>G	SMCHD1	Single nucleotide variant (intron variant)	Facioscapulohumeral muscular dystrophy 2	GLikely benign
Select item 2194164	NM_015295.3(SMCHD1):c.263-15C>T	SMCHD1	Single nucleotide variant (intron variant)	Facioscapulohumeral muscular dystrophy 2	GLikely benign
Select item 1538187	NM_015295.3(SMCHD1):c.263-12T>C	SMCHD1	Single nucleotide variant (intron variant)	Facioscapulohumeral muscular dystrophy 2	GLikely benign
Select item 1533435	NM_015295.3(SMCHD1):c.263-10_263-9del	SMCHD1	Deletion (intron variant)	Facioscapulohumeral muscular dystrophy 2	GLikely benign
Select item 1934428	NM_015295.3(SMCHD1):c.263-8G>C	SMCHD1	Single nucleotide variant (intron variant)	Facioscapulohumeral muscular dystrophy 2	GLikely benign
Select item 252695	NM_015295.3(SMCHD1):c.263A>G (p.Asp88Gly)	SMCHD1 (D88G)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1366584	NM_015295.3(SMCHD1):c.266A>T (p.Glu89Val)	SMCHD1 (E89V)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 285126	NM_015295.3(SMCHD1):c.279T>G (p.Asp93Glu)	SMCHD1 (D93E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1615036	NM_015295.3(SMCHD1):c.288C>G (p.Thr96=)	SMCHD1	Single nucleotide variant (synonymous variant)	Facioscapulohumeral muscular dystrophy 2	GLikely benign
Select item 260642	NM_015295.3(SMCHD1):c.288C>T (p.Thr96=)	SMCHD1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2913406	NM_015295.3(SMCHD1):c.292T>A (p.Tyr98Asn)	SMCHD1 (Y98N)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 1120661	NM_015295.3(SMCHD1):c.297G>C (p.Leu99=)	SMCHD1	Single nucleotide variant (synonymous variant)	Facioscapulohumeral muscular dystrophy 2	GLikely benign
Select item 863286	NM_015295.3(SMCHD1):c.301C>A (p.Gln101Lys)	SMCHD1 (Q101K)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 1721902	NM_015295.3(SMCHD1):c.302A>G (p.Gln101Arg)	SMCHD1 (Q101R)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 282399	NM_015295.3(SMCHD1):c.306G>A (p.Ser102=)	SMCHD1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 948195	NM_015295.3(SMCHD1):c.311A>G (p.Asn104Ser)	SMCHD1 (N104S)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2 +1 more	GUncertain significance
Select item 1152078	NM_015295.3(SMCHD1):c.318A>G (p.Leu106=)	SMCHD1	Single nucleotide variant (synonymous variant)	Facioscapulohumeral muscular dystrophy 2	GLikely benign
Select item 290606	NM_015295.3(SMCHD1):c.319C>T (p.Leu107=)	SMCHD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 283112	NM_015295.3(SMCHD1):c.321A>G (p.Leu107=)	SMCHD1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1370756	NM_015295.3(SMCHD1):c.331A>G (p.Thr111Ala)	SMCHD1 (T111A)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 2436199	NM_015295.3(SMCHD1):c.332C>T (p.Thr111Met)	SMCHD1 (T111M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 497504	NM_015295.3(SMCHD1):c.333G>A (p.Thr111=)	SMCHD1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1072742	NM_015295.3(SMCHD1):c.340C>T (p.Arg114Ter)	SMCHD1 (R114*)	Single nucleotide variant (nonsense)	Facioscapulohumeral muscular dystrophy 2	GPathogenic
Select item 2001905	NM_015295.3(SMCHD1):c.341G>A (p.Arg114Gln)	SMCHD1 (R114Q)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 1720963	NM_015295.3(SMCHD1):c.353T>C (p.Leu118Ser)	SMCHD1 (L118S)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 2069108	NM_015295.3(SMCHD1):c.369A>G (p.Thr123=)	SMCHD1	Single nucleotide variant (synonymous variant)	Facioscapulohumeral muscular dystrophy 2	GLikely benign
Select item 3016954	NM_015295.3(SMCHD1):c.385A>G (p.Met129Val)	SMCHD1 (M129V)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 260646	NM_015295.3(SMCHD1):c.399T>C (p.Tyr133=)	SMCHD1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 759255	NM_015295.3(SMCHD1):c.408A>G (p.Glu136=)	SMCHD1	Single nucleotide variant (synonymous variant)	Facioscapulohumeral muscular dystrophy 2	GLikely benign
Select item 375764	NM_015295.3(SMCHD1):c.408A>C (p.Glu136Asp)	SMCHD1 (E136D)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 375765	NM_015295.3(SMCHD1):c.410G>A (p.Gly137Glu)	SMCHD1 (G137E)	Single nucleotide variant (missense variant)	Arrhinia with choanal atresia and microphthalmia syndrome +1 more	GPathogenic
Select item 1626979	NM_015295.3(SMCHD1):c.420T>G (p.Pro140=)	SMCHD1	Single nucleotide variant (synonymous variant)	Facioscapulohumeral muscular dystrophy 2	GLikely benign
Select item 1392920	NM_015295.3(SMCHD1):c.424C>T (p.Pro142Ser)	SMCHD1 (P142S)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance

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