ClinVar for Gene (Select 5313) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367076	NM_000298.6(PKLR):c.958G>A (p.Val320Met)	PKLR (V289M +1 more)	Single nucleotide variant (missense variant)	Pyruvate kinase deficiency of red cells	GLikely pathogenic
Select item 3346748	NM_000298.6(PKLR):c.1189G>A (p.Asp397Asn)	PKLR (D366N +1 more)	Single nucleotide variant (missense variant)	PKLR-related disorder	GUncertain significance
Select item 3341366	NM_000298.6(PKLR):c.1492C>A (p.Arg498Ser)	PKLR (R467S +1 more)	Single nucleotide variant (missense variant)	Pyruvate kinase deficiency of red cells	GLikely pathogenic
Select item 3341365	NM_000298.6(PKLR):c.603G>A (p.Trp201Ter)	PKLR (W170* +1 more)	Single nucleotide variant (nonsense)	Pyruvate kinase deficiency of red cells	GPathogenic
Select item 3338268	NM_000298.6(PKLR):c.1461C>A (p.Tyr487Ter)	PKLR (Y456* +1 more)	Single nucleotide variant (nonsense)	Pyruvate kinase deficiency of red cells	GLikely pathogenic
Select item 3307045	NM_000298.6(PKLR):c.919G>A (p.Gly307Ser)	PKLR (G276S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307044	NM_000298.6(PKLR):c.1079G>C (p.Cys360Ser)	PKLR (C360S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307043	NM_000298.6(PKLR):c.594C>A (p.Asn198Lys)	PKLR (N167K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3247880	NC_000001.10:g.(?_155260363)_(155265567_?)del	PKLR	Deletion	not provided	GPathogenic
Select item 3235888	NM_000298.6(PKLR):c.695-1G>A	PKLR	Single nucleotide variant (splice acceptor variant)	Pyruvate kinase deficiency of red cells	GPathogenic
Select item 3213881	NM_000298.6(PKLR):c.635C>T (p.Pro212Leu)	PKLR (P181L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213879	NM_000298.6(PKLR):c.1555G>A (p.Glu519Lys)	PKLR (E519K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068716	NM_000298.6(PKLR):c.1417G>A (p.Val473Met)	PKLR (V442M +1 more)	Single nucleotide variant (missense variant)	Pyruvate kinase deficiency of red cells	GLikely pathogenic
Select item 3068128	NM_000298.6(PKLR):c.914G>A (p.Gly305Glu)	PKLR (G274E +1 more)	Single nucleotide variant (missense variant)	Pyruvate kinase deficiency of red cells	GLikely pathogenic
Select item 3067560	NM_000298.6(PKLR):c.727G>C (p.Gly243Arg)	PKLR (G212R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3065956	NM_000298.6(PKLR):c.1411A>T (p.Ile471Phe)	PKLR (I440F +1 more)	Single nucleotide variant (missense variant)	Pyruvate kinase deficiency of red cells	GLikely pathogenic
Select item 3065566	NM_000298.6(PKLR):c.68T>G (p.Leu23Ter)	PKLR (L23*)	Single nucleotide variant (nonsense)	Pyruvate kinase deficiency of red cells	GLikely pathogenic
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3063199	GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1	ADAM15, ADAR +85 more	Copy number loss	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 3040858	NM_000298.6(PKLR):c.695-4G>T	PKLR	Single nucleotide variant (intron variant)	PKLR-related disorder	GLikely benign
Select item 3040706	NM_000298.6(PKLR):c.1518C>T (p.Val506=)	PKLR	Single nucleotide variant (synonymous variant)	PKLR-related disorder	GLikely benign
Select item 3038611	NM_000298.6(PKLR):c.585G>A (p.Gly195=)	PKLR	Single nucleotide variant (synonymous variant)	PKLR-related disorder	GLikely benign
Select item 3035365	NM_000298.6(PKLR):c.858C>A (p.Ser286=)	PKLR	Single nucleotide variant (synonymous variant)	PKLR-related disorder	GLikely benign
Select item 3031439	NM_000298.6(PKLR):c.1241C>G (p.Pro414Arg)	PKLR (P383R +1 more)	Single nucleotide variant (missense variant)	PKLR-related disorder	GLikely pathogenic
Select item 3026512	NM_000298.6(PKLR):c.70G>A (p.Ala24Thr)	PKLR (A24T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026511	NM_000298.6(PKLR):c.221G>C (p.Cys74Ser)	PKLR (C43S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008041	NM_000298.6(PKLR):c.1163C>T (p.Thr388Ile)	PKLR (T357I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004234	NM_000298.6(PKLR):c.1117-10T>C	PKLR	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2993009	NM_000298.6(PKLR):c.694+19C>T	PKLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981212	NM_000298.6(PKLR):c.644dup (p.Arg216fs)	PKLR (R216fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2964575	NM_000298.6(PKLR):c.695-13del	PKLR	Deletion (intron variant)	not provided	GLikely benign
Select item 2956937	NM_000298.6(PKLR):c.694+2T>G	PKLR	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2921246	NM_000298.6(PKLR):c.966-7C>T	PKLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2906857	NM_000298.6(PKLR):c.247G>A (p.Val83Met)	PKLR (V83M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2858457	NM_000298.6(PKLR):c.1130T>C (p.Met377Thr)	PKLR (M346T +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2855600	NM_000298.6(PKLR):c.727G>T (p.Gly243Cys)	PKLR (G243C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2733988	NM_000298.6(PKLR):c.320T>C (p.Met107Thr)	PKLR (M107T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2731920	NM_000298.6(PKLR):c.1066A>G (p.Met356Val)	PKLR (M356V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2697987	NM_000298.6(PKLR):c.1640G>C (p.Arg547Pro)	PKLR (R516P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690680	NM_000298.6(PKLR):c.1114C>T (p.Gln372Ter)	PKLR (Q341* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2690679	NM_000298.6(PKLR):c.520G>T (p.Glu174Ter)	PKLR (E143* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2690678	NM_000298.6(PKLR):c.1675C>G (p.Arg559Gly)	PKLR (R528G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2690489	NM_000298.6(PKLR):c.1676_1683del (p.Arg559fs)	PKLR (R528fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2689766	NM_000298.6(PKLR):c.1147C>G (p.Pro383Ala)	PKLR (P352A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689765	NM_000298.6(PKLR):c.1603T>C (p.Phe535Leu)	PKLR (F504L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689764	NM_000298.6(PKLR):c.1553G>A (p.Arg518His)	PKLR (R487H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689763	NM_000298.6(PKLR):c.673T>C (p.Ser225Pro)	PKLR (S194P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689762	NM_000298.6(PKLR):c.1069A>G (p.Ile357Val)	PKLR (I326V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689761	NM_000298.6(PKLR):c.1013G>A (p.Gly338Glu)	PKLR (G307E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689760	NM_000298.6(PKLR):c.733G>A (p.Val245Ile)	PKLR (V214I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2683181	NM_000298.6(PKLR):c.1676G>C (p.Arg559Pro)	PKLR (R528P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2682659	NM_000298.6(PKLR):c.844A>T (p.Ile282Phe)	PKLR (I251F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682658	NM_000298.6(PKLR):c.1327C>T (p.Arg443Trp)	PKLR (R412W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682175	NM_000298.6(PKLR):c.754G>A (p.Val252Met)	PKLR (V221M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2664773	NM_000298.6(PKLR):c.823G>C (p.Gly275Arg)	PKLR (G244R +1 more)	Single nucleotide variant (missense variant)	Pyruvate kinase deficiency of red cells	GLikely pathogenic
Select item 2663938	NM_000298.6(PKLR):c.1510C>T (p.Arg504Cys)	PKLR (R473C +1 more)	Single nucleotide variant (missense variant)	Pyruvate kinase deficiency of red cells +1 more	GConflicting classifications of pathogenicity
Select item 2639401	NM_000298.6(PKLR):c.1045G>T (p.Val349Phe)	PKLR (V318F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2635589	NM_000298.6(PKLR):c.879C>G (p.Asp293Glu)	PKLR (D262E +1 more)	Single nucleotide variant (missense variant)	PKLR-related disorder	GUncertain significance
Select item 2635160	NM_000298.6(PKLR):c.1150A>G (p.Thr384Ala)	PKLR (T353A +1 more)	Single nucleotide variant (missense variant)	PKLR-related disorder	GUncertain significance
Select item 2635060	NM_000298.6(PKLR):c.460G>A (p.Ala154Thr)	PKLR (A123T +1 more)	Single nucleotide variant (missense variant)	PKLR-related disorder	GUncertain significance
Select item 2631733	NM_000298.6(PKLR):c.1010G>C (p.Arg337Pro)	PKLR (R306P +1 more)	Single nucleotide variant (missense variant)	PKLR-related disorder	GLikely pathogenic
Select item 2627034	NM_000298.6(PKLR):c.1076G>C (p.Arg359Pro)	PKLR (R328P +1 more)	Single nucleotide variant (missense variant)	Pyruvate kinase deficiency of red cells	GLikely pathogenic
Select item 2585066	NM_000298.6(PKLR):c.692T>C (p.Ile231Thr)	PKLR (I231T +1 more)	Single nucleotide variant (missense variant)	Pyruvate kinase deficiency of red cells	GUncertain significance
Select item 2581554	NM_000298.6(PKLR):c.997A>G (p.Ile333Val)	PKLR (I302V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2581420	NM_000298.6(PKLR):c.1070T>A (p.Ile357Asn)	PKLR (I326N +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2577013	NM_000298.6(PKLR):c.657_677del (p.Asp220_Leu226del)	PKLR	Deletion (inframe_deletion)	Pyruvate kinase deficiency of red cells	GUncertain significance
Select item 2577012	NM_000298.6(PKLR):c.829G>T (p.Glu277Ter)	PKLR (E246* +1 more)	Single nucleotide variant (nonsense)	Pyruvate kinase deficiency of red cells	GLikely pathogenic
Select item 2575478	NM_000298.6(PKLR):c.625_637del (p.Arg209fs)	PKLR (R178fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2570736	NM_000298.6(PKLR):c.618T>C (p.Asn206=)	PKLR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2512012	NM_000298.6(PKLR):c.38G>A (p.Arg13Gln)	PKLR (R13Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493371	NM_000298.6(PKLR):c.1234A>T (p.Asn412Tyr)	PKLR (N412Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486303	NM_000298.6(PKLR):c.574C>T (p.Arg192Trp)	PKLR (R161W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2444037	NM_000298.6(PKLR):c.1029G>C (p.Glu343Asp)	PKLR (E312D +1 more)	Single nucleotide variant (missense variant)	Pyruvate kinase hyperactivity	GUncertain significance
Select item 2437900	NM_000298.6(PKLR):c.1675C>T (p.Arg559Ter)	PKLR (R528* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2437890	NM_000298.6(PKLR):c.965+2T>C	PKLR	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2437886	NM_000298.6(PKLR):c.1618+2T>C	PKLR	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2437882	NM_000298.6(PKLR):c.1542dup (p.Leu516fs)	PKLR (L485fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2437871	NM_000298.6(PKLR):c.1573del (p.Trp525fs)	PKLR (W494fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2437867	NM_000298.6(PKLR):c.1022G>C (p.Gly341Ala)	PKLR (G310A +1 more)	Single nucleotide variant (missense variant)	Pyruvate kinase deficiency of red cells +1 more	GPathogenic/Likely pathogenic
Select item 2437857	NM_000298.6(PKLR):c.695-2A>T	PKLR	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2437853	NM_000298.6(PKLR):c.1299C>A (p.Tyr433Ter)	PKLR (Y402* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2434910	NM_000298.6(PKLR):c.119G>A (p.Arg40Gln)	PKLR (R40Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434909	NM_000298.6(PKLR):c.656T>C (p.Ile219Thr)	PKLR (I188T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2434908	NM_000298.6(PKLR):c.695-3C>G	PKLR	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2434907	NM_000298.6(PKLR):c.1345C>T (p.Arg449Cys)	PKLR (R418C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434906	NM_000298.6(PKLR):c.260G>A (p.Ser87Asn)	PKLR (S56N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434905	NM_000298.6(PKLR):c.767G>A (p.Gly256Glu)	PKLR (G225E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434904	NM_000298.6(PKLR):c.1067T>C (p.Met356Thr)	PKLR (M325T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434903	NM_000298.6(PKLR):c.1442C>T (p.Ala481Val)	PKLR (A450V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434902	NM_000298.6(PKLR):c.1114C>G (p.Gln372Glu)	PKLR (Q341E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434901	NM_000298.6(PKLR):c.1145G>C (p.Arg382Pro)	PKLR (R351P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434900	NM_000298.6(PKLR):c.257G>A (p.Arg86His)	PKLR (R55H +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2434899	NM_000298.6(PKLR):c.1156G>A (p.Ala386Thr)	PKLR (A355T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434898	NM_000298.6(PKLR):c.1639C>T (p.Arg547Cys)	PKLR (R516C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434897	NM_000298.6(PKLR):c.1705C>T (p.Arg569Trp)	PKLR (R538W +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2434896	NM_000298.6(PKLR):c.980T>C (p.Leu327Pro)	PKLR (L327P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434895	NM_000298.6(PKLR):c.1434C>T (p.Gly478=)	PKLR	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2434894	NM_000298.6(PKLR):c.1183G>A (p.Val395Met)	PKLR (V364M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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