"Ambry Genetics"[submitter] AND "DIRAS3"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2550059	NM_004675.5(DIRAS3):c.650A>G (p.Asn217Ser)	DIRAS3, GNG12-AS1 (N217S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603607	NM_004675.5(DIRAS3):c.593A>G (p.Tyr198Cys)	DIRAS3, GNG12-AS1 (Y198C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245171	NM_004675.5(DIRAS3):c.547A>G (p.Lys183Glu)	DIRAS3, GNG12-AS1 (K183E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595912	NM_004675.5(DIRAS3):c.513G>A (p.Met171Ile)	DIRAS3, GNG12-AS1 (M171I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242036	NM_004675.5(DIRAS3):c.385G>A (p.Ala129Thr)	DIRAS3, GNG12-AS1 (A129T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241036	NM_004675.5(DIRAS3):c.296G>T (p.Arg99Leu)	GNG12-AS1, DIRAS3 (R99L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536683	NM_004675.5(DIRAS3):c.142G>A (p.Val48Met)	DIRAS3, GNG12-AS1 (V48M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263012	NM_004675.5(DIRAS3):c.91C>T (p.Pro31Ser)	DIRAS3, GNG12-AS1 (P31S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2216535	NM_004675.5(DIRAS3):c.35A>G (p.Lys12Arg)	DIRAS3, GNG12-AS1 (K12R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance