Related gene-specific medical variations for Gene (Select 22934) - ClinVar

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Links from Gene

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3007942	NM_144563.3(RPIA):c.153C>T (p.Thr51=)	LOC129934277, RPIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2822959	NM_144563.3(RPIA):c.72C>G (p.Gly24=)	LOC129934277, RPIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2662889	NM_144563.3(RPIA):c.4C>T (p.Gln2Ter)	LOC129934277, RPIA (Q2*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
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 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 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 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 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 2064631	NM_144563.3(RPIA):c.93G>A (p.Gly31=)	LOC129934277, RPIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2055832	NM_144563.3(RPIA):c.12C>G (p.Pro4=)	LOC129934277, RPIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2021430	NM_144563.3(RPIA):c.195dup (p.Asn66fs)	LOC129934277, RPIA (N66fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1980521	NM_144563.3(RPIA):c.154C>T (p.Arg52Cys)	LOC129934277, RPIA (R52C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1978867	NM_144563.3(RPIA):c.74C>G (p.Ala25Gly)	LOC129934277, RPIA (A25G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1925409	NM_144563.3(RPIA):c.12C>A (p.Pro4=)	LOC129934277, RPIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1911125	NM_144563.3(RPIA):c.121G>T (p.Val41Leu)	RPIA, LOC129934277 (V41L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1900381	NM_144563.3(RPIA):c.27C>T (p.Thr9=)	LOC129934277, RPIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1408917	NM_144563.3(RPIA):c.11C>T (p.Pro4Leu)	LOC129934277, RPIA (P4L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303034	NM_144563.3(RPIA):c.197A>G (p.Asn66Ser)	LOC129934277, RPIA (N66S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 897556	NM_144563.3(RPIA):c.177C>T (p.Ser59=)	LOC129934277, RPIA	Single nucleotide variant (synonymous variant)	Deficiency of ribose-5-phosphate isomerase	GUncertain significance
Select item 897555	NM_144563.3(RPIA):c.57C>T (p.Pro19=)	LOC129934277, RPIA	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 897554	NM_144563.3(RPIA):c.5A>G (p.Gln2Arg)	LOC129934277, RPIA (Q2R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 897553	NM_144563.3(RPIA):c.-17C>A	LOC129934277, RPIA	Single nucleotide variant (5 prime UTR variant)	Deficiency of ribose-5-phosphate isomerase	GUncertain significance
Select item 786863	NM_144563.3(RPIA):c.106C>A (p.Leu36Ile)	LOC129934277, RPIA (L36I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 748412	NM_144563.3(RPIA):c.12C>T (p.Pro4=)	LOC129934277, RPIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 742902	NM_144563.3(RPIA):c.84C>T (p.Gly28=)	LOC129934277, RPIA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 337428	NM_144563.3(RPIA):c.55C>A (p.Pro19Thr)	LOC129934277, RPIA (P19T)	Single nucleotide variant (missense variant)	Deficiency of ribose-5-phosphate isomerase	GUncertain significance

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Links from Gene

Items: 26