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

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2254461	NM_144563.3(RPIA):c.10C>T (p.Pro4Ser)	LOC129934277, RPIA (P4S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458836	NM_144563.3(RPIA):c.16C>T (p.Pro6Ser)	LOC129934277, RPIA (P6S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613644	NM_144563.3(RPIA):c.143A>G (p.Gln48Arg)	LOC129934277, RPIA (Q48R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207838	NM_144563.3(RPIA):c.146C>T (p.Ser49Phe)	LOC129934277, RPIA (S49F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238161	NM_144563.3(RPIA):c.199A>G (p.Ser67Gly)	LOC129934277, RPIA (S67G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3156015	NM_144563.3(RPIA):c.238G>C (p.Glu80Gln)	RPIA (E80Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3156016	NM_144563.3(RPIA):c.311G>A (p.Ser104Asn)	RPIA (S104N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556979	NM_144563.3(RPIA):c.334G>A (p.Val112Met)	RPIA (V112M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1406978	NM_144563.3(RPIA):c.354G>C (p.Arg118Ser)	RPIA (R118S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1683399	NM_144563.3(RPIA):c.451C>T (p.Arg151Ter)	RPIA (R151*)	Single nucleotide variant (nonsense)	Deficiency of ribose-5-phosphate isomerase +1 more	GPathogenic
Select item 2276197	NM_144563.3(RPIA):c.528-6C>T	RPIA	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3156018	NM_144563.3(RPIA):c.572G>A (p.Arg191His)	RPIA (R191H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3315169	NM_144563.3(RPIA):c.633G>C (p.Lys211Asn)	RPIA (K211N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 337434	NM_144563.3(RPIA):c.706G>A (p.Val236Met)	RPIA (V236M)	Single nucleotide variant (missense variant)	Deficiency of ribose-5-phosphate isomerase +1 more	GUncertain significance
Select item 898710	NM_144563.3(RPIA):c.790C>T (p.Arg264Trp)	RPIA (R264W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3315170	NM_144563.3(RPIA):c.866A>G (p.Asn289Ser)	RPIA (N289S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330397	NM_144563.3(RPIA):c.892A>T (p.Met298Leu)	RPIA (M298L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3156019	NM_144563.3(RPIA):c.917G>A (p.Arg306Lys)	RPIA (R306K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278118	NM_144563.3(RPIA):c.923A>G (p.Lys308Arg)	RPIA (K308R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance