"Ambry Genetics"[submitter] AND "SLCO1A2"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2496098	NM_001386879.1(SLCO1A2):c.1879C>A (p.His627Asn)	SLCO1A2 (H527N +7 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2490102	NM_001386879.1(SLCO1A2):c.1724G>C (p.Cys575Ser)	SLCO1A2 (C419S +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2465896	NM_001386879.1(SLCO1A2):c.1696T>C (p.Tyr566His)	SLCO1A2 (Y546H +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2334877	NM_001386879.1(SLCO1A2):c.1688C>T (p.Ala563Val)	SLCO1A2 (A476V +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2494329	NM_001386879.1(SLCO1A2):c.1678G>A (p.Gly560Ser)	SLCO1A2 (G428S +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2462519	NM_001386879.1(SLCO1A2):c.1448A>G (p.Asn483Ser)	SLCO1A2 (N327S +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2355008	NM_001386879.1(SLCO1A2):c.1436T>C (p.Met479Thr)	SLCO1A2 (M347T +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2328490	NM_001386879.1(SLCO1A2):c.1255A>C (p.Asn419His)	SLCO1A2 (N263H +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2476036	NM_001386879.1(SLCO1A2):c.1228T>C (p.Cys410Arg)	SLCO1A2 (C278R +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2539941	NM_001386879.1(SLCO1A2):c.1093C>A (p.Pro365Thr)	SLCO1A2 (P265T +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2533374	NM_001386879.1(SLCO1A2):c.824T>G (p.Leu275Arg)	SLCO1A2 (L143R +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2514836	NM_001386879.1(SLCO1A2):c.719G>A (p.Arg240His)	SLCO1A2 (R153H +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2476037	NM_001386879.1(SLCO1A2):c.628G>A (p.Gly210Arg)	SLCO1A2 (G54R +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2559843	NM_001386879.1(SLCO1A2):c.560C>T (p.Ala187Val)	SLCO1A2 (A167V +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2459950	NM_001386879.1(SLCO1A2):c.482T>C (p.Val161Ala)	SLCO1A2 (V141A +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2339969	NM_001386879.1(SLCO1A2):c.140T>C (p.Ile47Thr)	SLCO1A2 (I27T +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2468545	NM_001386879.1(SLCO1A2):c.86C>T (p.Ala29Val)	SLCO1A2 (A27V +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2319180	NM_000415.3(IAPP):c.37C>T (p.Leu13Phe)	IAPP, SLCO1A2 (L13F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance