C1834671[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1341966	NM_015295.3(SMCHD1):c.261del (p.Phe87fs)	SMCHD1 (F87fs)	Deletion (frameshift variant)	Facioscapulohumeral muscular dystrophy 2	GPathogenic
Select item 560357	NM_015295.3(SMCHD1):c.694A>G (p.Ile232Val)	SMCHD1 (I232V)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 2683842	NM_015295.3(SMCHD1):c.1520del (p.Asn507fs)	SMCHD1 (N507fs)	Deletion (frameshift variant)	Facioscapulohumeral muscular dystrophy 2	GPathogenic
Select item 2628017	NM_015295.3(SMCHD1):c.2063G>C (p.Arg688Thr)	SMCHD1 (R688T)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 2578460	NM_015295.3(SMCHD1):c.2776C>T (p.His926Tyr)	SMCHD1 (H926Y)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 286021	NM_015295.3(SMCHD1):c.3209T>C (p.Ile1070Thr)	SMCHD1 (I1070T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 560349	NM_015295.3(SMCHD1):c.3529G>T (p.Asp1177Tyr)	SMCHD1 (D1177Y)	Single nucleotide variant (missense variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 3024458	NM_015295.3(SMCHD1):c.3801+2T>C	SMCHD1	Single nucleotide variant (splice donor variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 1542094	NM_015295.3(SMCHD1):c.3802-12T>C	SMCHD1	Single nucleotide variant (intron variant)	Facioscapulohumeral muscular dystrophy 2	GLikely benign
Select item 981185	NM_015295.3(SMCHD1):c.3927+2dup	SMCHD1	Duplication (splice donor variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 1299499	NM_015295.3(SMCHD1):c.4452G>C (p.Leu1484=)	SMCHD1	Single nucleotide variant (synonymous variant)	Facioscapulohumeral muscular dystrophy 2	GLikely benign
Select item 964028	NM_015295.3(SMCHD1):c.4517G>A (p.Arg1506His)	SMCHD1 (R1506H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2578459	NM_015295.3(SMCHD1):c.5994-11C>G	SMCHD1	Single nucleotide variant (intron variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance