RPIA[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145403	GRCh38/hg38 2p12-11.2(chr2:77025216-90282666)x3	ATOH8, C2orf68 +302 more	Copy number gain	See cases	GPathogenic
Select item 153632	GRCh38/hg38 2p11.2(chr2:85014686-88826619)x1	ATOH8, C2orf68 +179 more	Copy number loss	See cases	GPathogenic
Select item 146363	GRCh38/hg38 2p11.2-11.1(chr2:87098178-91884275)x3	LOC122787150, LOC122787151 +104 more	Copy number gain	See cases	GUncertain significance
Select item 148476	GRCh38/hg38 2p11.2(chr2:87375475-90282666)x3	CYTOR, EIF2AK3 +101 more	Copy number gain	See cases	GUncertain significance
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 2662889	NM_144563.3(RPIA):c.4C>T (p.Gln2Ter)	LOC129934277, RPIA (Q2*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
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 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 1408917	NM_144563.3(RPIA):c.11C>T (p.Pro4Leu)	LOC129934277, RPIA (P4L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1925409	NM_144563.3(RPIA):c.12C>A (p.Pro4=)	LOC129934277, RPIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 1900381	NM_144563.3(RPIA):c.27C>T (p.Thr9=)	LOC129934277, RPIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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
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 2822959	NM_144563.3(RPIA):c.72C>G (p.Gly24=)	LOC129934277, RPIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 742902	NM_144563.3(RPIA):c.84C>T (p.Gly28=)	LOC129934277, RPIA	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 786863	NM_144563.3(RPIA):c.106C>A (p.Leu36Ile)	LOC129934277, RPIA (L36I)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 3007942	NM_144563.3(RPIA):c.153C>T (p.Thr51=)	LOC129934277, RPIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2021430	NM_144563.3(RPIA):c.195dup (p.Asn66fs)	LOC129934277, RPIA (N66fs)	Duplication (frameshift variant)	not provided	GPathogenic
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 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 2057992	NM_144563.3(RPIA):c.212C>A (p.Ala71Asp)	RPIA (A71D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 337429	NM_144563.3(RPIA):c.218C>G (p.Ser73Cys)	RPIA (S73C)	Single nucleotide variant (missense variant)	Deficiency of ribose-5-phosphate isomerase	GUncertain significance
Select item 1543832	NM_144563.3(RPIA):c.228C>T (p.Ser76=)	RPIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 928792	NM_144563.3(RPIA):c.253G>A (p.Ala85Thr)	RPIA (A85T)	Single nucleotide variant (missense variant)	Deficiency of ribose-5-phosphate isomerase	GLikely pathogenic
Select item 1387044	NM_144563.3(RPIA):c.265G>C (p.Ala89Pro)	RPIA (A89P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1535016	NM_144563.3(RPIA):c.285+19G>A	RPIA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1673851	NM_144563.3(RPIA):c.286-13C>T	RPIA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1632798	NM_144563.3(RPIA):c.286-12G>A	RPIA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1553358	NM_144563.3(RPIA):c.286-10T>G	RPIA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1716500	NM_144563.3(RPIA):c.304A>C (p.Ile102Leu)	RPIA (I102L)	Single nucleotide variant (missense variant)	not provided	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 2200607	NM_144563.3(RPIA):c.322A>G (p.Ile108Val)	RPIA (I108V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 1979943	NM_144563.3(RPIA):c.347-5C>T	RPIA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 928791	NM_144563.3(RPIA):c.347-1G>A	RPIA	Single nucleotide variant (splice acceptor variant)	Deficiency of ribose-5-phosphate isomerase	GPathogenic
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 1911324	NM_144563.3(RPIA):c.403-12T>C	RPIA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1911289	NM_144563.3(RPIA):c.403-11G>A	RPIA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 13008	NM_144563.3(RPIA):c.404C>T (p.Ala135Val)	RPIA (A135V)	Single nucleotide variant (missense variant)	Deficiency of ribose-5-phosphate isomerase	GPathogenic
Select item 898708	NM_144563.3(RPIA):c.443A>G (p.Asp148Gly)	RPIA (D148G)	Single nucleotide variant (missense variant)	Deficiency of ribose-5-phosphate isomerase	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 3049376	NM_144563.3(RPIA):c.463-10C>T	RPIA	Single nucleotide variant (intron variant)	RPIA-related disorder	GLikely benign
Select item 337430	NM_144563.3(RPIA):c.493G>A (p.Val165Ile)	RPIA (V165I)	Single nucleotide variant (missense variant)	Deficiency of ribose-5-phosphate isomerase	GUncertain significance
Select item 2094964	NM_144563.3(RPIA):c.497A>G (p.Asp166Gly)	RPIA (D166G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 731489	NM_144563.3(RPIA):c.513C>T (p.Leu171=)	RPIA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 337431	NM_144563.3(RPIA):c.527+11T>C	RPIA	Single nucleotide variant (intron variant)	Deficiency of ribose-5-phosphate isomerase	GUncertain significance
Select item 2974771	NM_144563.3(RPIA):c.527+12G>T	RPIA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2276197	NM_144563.3(RPIA):c.528-6C>T	RPIA	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2082776	NM_144563.3(RPIA):c.535C>G (p.Leu179Val)	RPIA (L179V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 734707	NM_144563.3(RPIA):c.561C>T (p.Gly187=)	RPIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2651110	NM_144563.3(RPIA):c.585C>T (p.Ile195=)	RPIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2056294	NM_144563.3(RPIA):c.596+4_596+5del	RPIA	Deletion (intron variant)	not provided	GUncertain significance
Select item 976162	NM_144563.3(RPIA):c.596+3A>G	RPIA	Single nucleotide variant (intron variant)	Deficiency of ribose-5-phosphate isomerase	GUncertain significance
Select item 337432	NM_144563.3(RPIA):c.596+5A>C	RPIA	Single nucleotide variant (intron variant)	Deficiency of ribose-5-phosphate isomerase	GUncertain significance
Select item 1169292	NM_144563.3(RPIA):c.596+20A>T	RPIA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2971406	NM_144563.3(RPIA):c.597-16G>C	RPIA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870117	NM_144563.3(RPIA):c.597-8_597-6del	RPIA	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1972973	NM_144563.3(RPIA):c.605C>T (p.Ser202Leu)	RPIA (S202L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 733976	NM_144563.3(RPIA):c.615C>T (p.Leu205=)	RPIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 635118	NM_144563.3(RPIA):c.627G>C (p.Trp209Cys)	RPIA (W209C)	Single nucleotide variant (missense variant)	Deficiency of ribose-5-phosphate isomerase	GPathogenic
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 337433	NM_144563.3(RPIA):c.633G>A (p.Lys211=)	RPIA	Single nucleotide variant (synonymous variant)	Deficiency of ribose-5-phosphate isomerase +1 more	GBenign
Select item 737058	NM_144563.3(RPIA):c.642C>T (p.Pro214=)	RPIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1567135	NM_144563.3(RPIA):c.654C>A (p.Ile218=)	RPIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2848254	NM_144563.3(RPIA):c.658A>G (p.Met220Val)	RPIA (M220V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682322	NM_144563.3(RPIA):c.679C>T (p.Arg227Ter)	RPIA (R227*)	Single nucleotide variant (nonsense)	Deficiency of ribose-5-phosphate isomerase	GPathogenic
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 1602584	NM_144563.3(RPIA):c.738+7G>C	RPIA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2824040	NM_144563.3(RPIA):c.738+14T>C	RPIA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 337435	NM_144563.3(RPIA):c.738+18del	RPIA	Deletion (intron variant)	Deficiency of ribose-5-phosphate isomerase	GUncertain significance
Select item 1650538	NM_144563.3(RPIA):c.738+20C>T	RPIA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 13007	NM_144563.3(RPIA):c.762del (p.Asn255fs)	RPIA (N255fs)	Deletion (frameshift variant)	Deficiency of ribose-5-phosphate isomerase	GPathogenic
Select item 1332818	NM_144563.3(RPIA):c.770T>C (p.Ile257Thr)	RPIA (I257T)	Single nucleotide variant (missense variant)	Deficiency of ribose-5-phosphate isomerase	GLikely pathogenic
Select item 898709	NM_144563.3(RPIA):c.789C>T (p.Asp263=)	RPIA	Single nucleotide variant (synonymous variant)	Deficiency of ribose-5-phosphate isomerase +1 more	GConflicting classifications of pathogenicity
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 2092985	NM_144563.3(RPIA):c.802T>G (p.Trp268Gly)	RPIA (W268G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363816	NM_144563.3(RPIA):c.837A>T (p.Pro279=)	RPIA	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2819280	NM_144563.3(RPIA):c.838+13G>A	RPIA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2822574	NM_144563.3(RPIA):c.839-14C>G	RPIA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1988970	NM_144563.3(RPIA):c.839-7C>T	RPIA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 337436	NM_144563.3(RPIA):c.858A>G (p.Leu286=)	RPIA	Single nucleotide variant (synonymous variant)	Deficiency of ribose-5-phosphate isomerase +1 more	GBenign
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
Select item 749031	NM_144563.3(RPIA):c.924G>A (p.Lys308=)	RPIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1914243	NM_144563.3(RPIA):c.925C>T (p.Pro309Ser)	RPIA (P309S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2725026	NM_144563.3(RPIA):c.935G>A (p.Ter312=)	RPIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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