"OMIM"[submitter] AND "SMCHD1"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 375766	NM_015295.3(SMCHD1):c.403A>T (p.Ser135Cys)	SMCHD1 (S135C)	Single nucleotide variant (missense variant)	Arrhinia with choanal atresia and microphthalmia syndrome	GPathogenic
Select item 375768	NM_015295.3(SMCHD1):c.404G>T (p.Ser135Ile)	SMCHD1 (S135I)	Single nucleotide variant (missense variant)	Arrhinia with choanal atresia and microphthalmia syndrome	GPathogenic
Select item 375767	NM_015295.3(SMCHD1):c.404G>A (p.Ser135Asn)	SMCHD1 (S135N)	Single nucleotide variant (missense variant)	Arrhinia with choanal atresia and microphthalmia syndrome +1 more	GPathogenic
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 375762	NM_015295.3(SMCHD1):c.423G>C (p.Leu141Phe)	SMCHD1 (L141F)	Single nucleotide variant (missense variant)	Arrhinia with choanal atresia and microphthalmia syndrome	GPathogenic
Select item 375760	NM_015295.3(SMCHD1):c.1034A>G (p.Gln345Arg)	SMCHD1 (Q345R)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 375761	NM_015295.3(SMCHD1):c.1043A>G (p.His348Arg)	SMCHD1 (H348R)	Single nucleotide variant (missense variant)	Arrhinia with choanal atresia and microphthalmia syndrome	GPathogenic
Select item 375763	NM_015295.3(SMCHD1):c.1199A>T (p.Gln400Leu)	SMCHD1 (Q400L)	Single nucleotide variant (missense variant)	Arrhinia with choanal atresia and microphthalmia syndrome +2 more	GPathogenic
Select item 39855	NM_015295.3(SMCHD1):c.1302_1306del (p.Tyr434_Arg436delinsTer)	SMCHD1	Deletion (nonsense)	Facioscapulohumeral muscular dystrophy 2	GPathogenic
Select item 88705	NM_015295.3(SMCHD1):c.1580C>T (p.Thr527Met)	SMCHD1 (T527M)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 39857	NM_015295.3(SMCHD1):c.1608del (p.Asp537fs)	SMCHD1 (D537fs)	Deletion (frameshift variant)	Facioscapulohumeral muscular dystrophy 2	GPathogenic
Select item 39856	NM_015295.3(SMCHD1):c.2068C>T (p.Pro690Ser)	SMCHD1 (P690S)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GPathogenic
Select item 1012233	NM_015295.3(SMCHD1):c.2129dup (p.Ala711fs)	SMCHD1 (A711fs)	Duplication (frameshift variant)	Facioscapulohumeral muscular dystrophy 2	GPathogenic
Select item 1012231	NM_015295.3(SMCHD1):c.3469G>T (p.Gly1157Ter)	SMCHD1 (G1157*)	Single nucleotide variant (nonsense)	Facioscapulohumeral muscular dystrophy 2	GPathogenic
Select item 282530	NM_015295.3(SMCHD1):c.3801+1G>A	SMCHD1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 39859	NM_015295.3(SMCHD1):c.4566G>A (p.Thr1522=)	SMCHD1	Single nucleotide variant (synonymous variant)	Facioscapulohumeral muscular dystrophy 2 +1 more	GPathogenic
Select item 1012232	NM_015295.3(SMCHD1):c.5150_5151del (p.Lys1717fs)	SMCHD1 (K1717fs)	Deletion (frameshift variant)	Facioscapulohumeral muscular dystrophy 2	GPathogenic