"Ambry Genetics"[submitter] AND "C15orf40"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2614719	NM_031452.4(RAMAC):c.178G>A (p.Asp60Asn)	C15orf40, RAMAC (D60N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2480768	NM_031452.4(RAMAC):c.233G>A (p.Arg78Gln)	C15orf40, RAMAC (R78Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2403622	NM_144597.3(C15orf40):c.74G>A (p.Cys25Tyr)	C15orf40 (C25Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2295776	NM_144597.3(C15orf40):c.65G>A (p.Arg22Gln)	C15orf40 (R22Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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