Related gene-specific medical variations for Gene (Select 126860226) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3166350	NM_001003801.2(SMARCD3):c.956G>A (p.Arg319Gln)	LOC126860226, SMARCD3 (R306Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166348	NM_001003801.2(SMARCD3):c.1273C>T (p.Arg425Cys)	LOC126860226, SMARCD3 (R425C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166347	NM_001003801.2(SMARCD3):c.1018G>A (p.Val340Ile)	LOC126860226, SMARCD3 (V327I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387133	NM_001003801.2(SMARCD3):c.1253G>C (p.Gly418Ala)	LOC126860226, SMARCD3 (G405A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377970	NM_001003801.2(SMARCD3):c.983G>A (p.Arg328His)	LOC126860226, SMARCD3 (R315H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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