ClinVar for MedGen (Select 98373) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 689564	NM_015295.3(SMCHD1):c.790G>A (p.Glu264Lys)	SMCHD1 (E264K)	Single nucleotide variant (missense variant)	Scapulohumeral muscular dystrophy	GLikely pathogenic
Select item 689563	NM_015295.3(SMCHD1):c.1172A>G (p.Asn391Ser)	SMCHD1 (N391S)	Single nucleotide variant (missense variant)	Scapulohumeral muscular dystrophy	GUncertain significance
Select item 689562	NM_015295.3(SMCHD1):c.89T>G (p.Leu30Trp)	SMCHD1 (L30W)	Single nucleotide variant (missense variant)	Scapulohumeral muscular dystrophy	GUncertain significance
Select item 689561	NM_015295.3(SMCHD1):c.4459C>T (p.Gln1487Ter)	SMCHD1 (Q1487*)	Single nucleotide variant (nonsense)	Scapulohumeral muscular dystrophy	GPathogenic
Select item 637007	NM_015295.3(SMCHD1):c.3097A>G (p.Ser1033Gly)	SMCHD1 (S1033G)	Single nucleotide variant (missense variant)	Scapulohumeral muscular dystrophy	GUncertain significance
Select item 637006	NM_015295.3(SMCHD1):c.4966+5G>A	SMCHD1	Single nucleotide variant (intron variant)	Scapulohumeral muscular dystrophy	GLikely pathogenic
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 560350	NM_015295.3(SMCHD1):c.2384T>C (p.Val795Ala)	SMCHD1 (V795A)	Single nucleotide variant (missense variant)	Scapulohumeral muscular dystrophy	GUncertain significance
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 446476	NM_015295.3(SMCHD1):c.3679G>C (p.Gly1227Arg)	SMCHD1 (G1227R)	Single nucleotide variant (missense variant)	Scapulohumeral muscular dystrophy	GLikely pathogenic
Select item 291312	NM_015295.3(SMCHD1):c.1286ATC[1] (p.His430del)	SMCHD1 (H430del)	Microsatellite (inframe_deletion)	Scapulohumeral muscular dystrophy	GLikely pathogenic
Select item 286021	NM_015295.3(SMCHD1):c.3209T>C (p.Ile1070Thr)	SMCHD1 (I1070T)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity