"MGZ Medical Genetics Center"[submitter] AND "SMCHD1"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 1709611	NM_015295.3(SMCHD1):c.1717_1720del (p.Lys572_Gln573insTer)	SMCHD1	Deletion (nonsense)	Facioscapulohumeral muscular dystrophy 2	GLikely pathogenic
Select item 981185	NM_015295.3(SMCHD1):c.3927+2dup	SMCHD1	Duplication (splice donor variant)	Facioscapulohumeral muscular dystrophy 2	GUncertain significance
Select item 1709885	NM_015295.3(SMCHD1):c.5145_5146del (p.Tyr1715_Thr1716insTer)	SMCHD1	Microsatellite (frameshift variant)	Facioscapulohumeral muscular dystrophy 2	GLikely pathogenic

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