PKLR[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
Select item 60040	GRCh38/hg38 1q21.3-22(chr1:154575689-155292901)x1	LOC129931527, LOC129931528 +91 more	Copy number loss	See cases	GPathogenic
Select item 151444	GRCh38/hg38 1q21.3-22(chr1:155006546-155464263)x3	ADAM15, ADAM15-EFNA4 +67 more	Copy number gain	See cases	GUncertain significance
Select item 57458	GRCh38/hg38 1q22(chr1:155182457-155787428)x3	ASH1L, ASH1L-AS1 +45 more	Copy number gain	See cases	GUncertain significance
Select item 659608	NC_000001.11:g.(?_155282411)_(155323834_?)del	FDPS, HCN3 +10 more	Deletion	not provided	GPathogenic
Select item 873569	NM_020897.3(HCN3):c.*832C>T	HCN3, PKLR	Single nucleotide variant (3 prime UTR variant +1 more)	Pyruvate kinase deficiency of red cells	GUncertain significance
Select item 874566	NM_020897.3(HCN3):c.*1004C>T	PKLR, HCN3	Single nucleotide variant (3 prime UTR variant +1 more)	Pyruvate kinase deficiency of red cells	GUncertain significance
Select item 292790	NM_020897.3(HCN3):c.*1042A>G	HCN3, PKLR	Single nucleotide variant (3 prime UTR variant)	Pyruvate kinase deficiency of red cells	GUncertain significance
Select item 292791	NM_020897.3(HCN3):c.*1068G>A	HCN3, PKLR	Single nucleotide variant (3 prime UTR variant)	Pyruvate kinase deficiency of red cells	GUncertain significance
Select item 292792	NM_020897.3(HCN3):c.*1069C>T	HCN3, PKLR	Single nucleotide variant (3 prime UTR variant)	Pyruvate kinase deficiency of red cells	GBenign
Select item 292793	NM_020897.3(HCN3):c.*1216A>C	PKLR, HCN3	Single nucleotide variant (3 prime UTR variant)	Pyruvate kinase deficiency of red cells	GUncertain significance
Select item 292794	NM_020897.3(HCN3):c.*1243A>G	HCN3, PKLR	Single nucleotide variant (3 prime UTR variant)	Pyruvate kinase deficiency of red cells	GUncertain significance
Select item 292795	NM_020897.3(HCN3):c.*1330G>T	HCN3, PKLR	Single nucleotide variant (3 prime UTR variant)	Pyruvate kinase deficiency of red cells	GUncertain significance
Select item 874567	NM_020897.3(HCN3):c.*1354A>G	HCN3, PKLR	Single nucleotide variant (3 prime UTR variant +1 more)	Pyruvate kinase deficiency of red cells	GUncertain significance
Select item 875491	NM_020897.3(HCN3):c.*1374T>C	HCN3, PKLR	Single nucleotide variant (3 prime UTR variant +1 more)	Pyruvate kinase deficiency of red cells	GUncertain significance
Select item 292796	NM_000298.6(PKLR):c.*582G>A	PKLR	Single nucleotide variant (3 prime UTR variant)	Pyruvate kinase deficiency of red cells	GUncertain significance
Select item 875492	NM_000298.6(PKLR):c.*500C>T	PKLR	Single nucleotide variant (3 prime UTR variant)	Pyruvate kinase deficiency of red cells	GUncertain significance
Select item 292797	NM_000298.6(PKLR):c.*499G>A	PKLR	Single nucleotide variant (3 prime UTR variant)	Pyruvate kinase deficiency of red cells	GUncertain significance
Select item 875493	NM_000298.6(PKLR):c.*356T>C	PKLR	Single nucleotide variant (3 prime UTR variant)	Pyruvate kinase deficiency of red cells	GUncertain significance
Select item 292798	NM_000298.6(PKLR):c.*351T>A	PKLR	Single nucleotide variant (3 prime UTR variant)	Pyruvate kinase deficiency of red cells	GUncertain significance
Select item 292799	NM_000298.6(PKLR):c.346_348del	PKLR	Deletion (3 prime UTR variant)	Pyruvate kinase deficiency of red cells	GUncertain significance
Select item 292800	NM_000298.6(PKLR):c.*342C>T	PKLR	Single nucleotide variant (3 prime UTR variant)	Pyruvate kinase deficiency of red cells	GUncertain significance
Select item 292801	NM_000298.6(PKLR):c.*275C>T	PKLR	Single nucleotide variant (3 prime UTR variant)	Pyruvate kinase deficiency of red cells	GUncertain significance
Select item 292802	NM_000298.6(PKLR):c.*267C>T	PKLR	Single nucleotide variant (3 prime UTR variant)	Pyruvate kinase deficiency of red cells +1 more	GBenign
Select item 1162852	NM_000298.6(PKLR):c.13_14delinsCA	PKLR	Indel (3 prime UTR variant)	not provided	GUncertain significance
Select item 876508	NM_000298.6(PKLR):c.*14C>G	PKLR	Single nucleotide variant (3 prime UTR variant)	Pyruvate kinase deficiency of red cells	GUncertain significance
Select item 292803	NM_000298.6(PKLR):c.*14C>T	PKLR	Single nucleotide variant (3 prime UTR variant)	Pyruvate kinase deficiency of red cells	GUncertain significance
Select item 292804	NM_000298.6(PKLR):c.*13T>G	PKLR	Single nucleotide variant (3 prime UTR variant)	Pyruvate kinase deficiency of red cells	GUncertain significance
Select item 255797	NM_000298.6(PKLR):c.*13T>C	PKLR	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GBenign
Select item 876509	NM_000298.6(PKLR):c.1706G>A (p.Arg569Gln)	PKLR (R538Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	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 +1 more	GConflicting classifications of pathogenicity
Select item 255798	NM_000298.6(PKLR):c.1705C>A (p.Arg569=)	PKLR	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 292805	NM_000298.6(PKLR):c.1686C>T (p.Ser562=)	PKLR	Single nucleotide variant (synonymous variant)	Pyruvate kinase deficiency of red cells +1 more	GBenign/Likely benign
Select item 2690489	NM_000298.6(PKLR):c.1676_1683del (p.Arg559fs)	PKLR (R528fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
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 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 2437900	NM_000298.6(PKLR):c.1675C>T (p.Arg559Ter)	PKLR (R528* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 994383	NM_000298.6(PKLR):c.1670G>C (p.Gly557Ala)	PKLR (G526A +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2379374	NM_000298.6(PKLR):c.1655T>C (p.Val552Ala)	PKLR (V521A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1694006	NM_000298.6(PKLR):c.1654G>A (p.Val552Met)	PKLR (V521M +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 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 2202851	NM_000298.6(PKLR):c.1623G>C (p.Lys541Asn)	PKLR (K541N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1331060	NM_000298.6(PKLR):c.1619-3C>A	PKLR	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 746007	NM_000298.6(PKLR):c.1619-6C>T	PKLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1909393	NM_000298.6(PKLR):c.1618+15C>A	PKLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2437886	NM_000298.6(PKLR):c.1618+2T>C	PKLR	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2432716	NM_000298.6(PKLR):c.1618+1G>A	PKLR	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 449546	NM_000298.6(PKLR):c.1614A>T (p.Glu538Asp)	PKLR (E538D +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 806233	NM_000298.6(PKLR):c.1607G>T (p.Gly536Val)	PKLR (G536V +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 1380720	NM_000298.6(PKLR):c.1595G>C (p.Arg532Pro)	PKLR (R501P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1324921	NM_000298.6(PKLR):c.1595G>A (p.Arg532Gln)	PKLR (R501Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 983093	NM_000298.6(PKLR):c.1594C>T (p.Arg532Trp)	PKLR (R501W +1 more)	Single nucleotide variant (missense variant)	PKLR-related disorder +2 more	GPathogenic
Select item 2434892	NM_000298.6(PKLR):c.1591C>T (p.Arg531Cys)	PKLR (R500C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 992941	NM_000298.6(PKLR):c.1591C>A (p.Arg531Ser)	PKLR (R500S +1 more)	Single nucleotide variant (missense variant)	Pyruvate kinase deficiency of red cells	GLikely pathogenic
Select item 1687535	NM_000298.6(PKLR):c.1575G>A (p.Trp525Ter)	PKLR (W494* +1 more)	Single nucleotide variant (nonsense)	Pyruvate kinase deficiency of red cells	GUncertain significance
Select item 2437871	NM_000298.6(PKLR):c.1573del (p.Trp525fs)	PKLR (W494fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2315987	NM_000298.6(PKLR):c.1558C>A (p.Pro520Thr)	PKLR (P489T +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 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 873615	NM_000298.6(PKLR):c.1552C>T (p.Arg518Cys)	PKLR (R518C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 597309	NM_000298.6(PKLR):c.1552C>A (p.Arg518Ser)	PKLR (R518S +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2437882	NM_000298.6(PKLR):c.1542dup (p.Leu516fs)	PKLR (L485fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1511	NM_000298.6(PKLR):c.1529G>A (p.Arg510Gln)	PKLR (R510Q +1 more)	Single nucleotide variant (missense variant)	Pyruvate kinase deficiency of red cells +2 more	GPathogenic
Select item 1162853	NM_000298.6(PKLR):c.1528C>T (p.Arg510Ter)	PKLR (R479* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 235407	NM_000298.6(PKLR):c.1516G>A (p.Val506Ile)	PKLR (V506I +1 more)	Single nucleotide variant (missense variant)	Pyruvate kinase hyperactivity +3 more	GConflicting classifications of pathogenicity
Select item 2431446	NM_000298.6(PKLR):c.1511G>T (p.Arg504Leu)	PKLR (R473L +1 more)	Single nucleotide variant (missense variant)	Pyruvate kinase deficiency of red cells	GLikely pathogenic
Select item 587456	NM_000298.6(PKLR):c.1511G>A (p.Arg504His)	PKLR (R504H +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 1486957	NM_000298.6(PKLR):c.1508C>T (p.Ala503Val)	PKLR (A472V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1324924	NM_000298.6(PKLR):c.1493G>A (p.Arg498His)	PKLR (R467H +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1324923	NM_000298.6(PKLR):c.1492C>T (p.Arg498Cys)	PKLR (R467C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2063906	NM_000298.6(PKLR):c.1484C>T (p.Ala495Val)	PKLR (A464V +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2432673	NM_000298.6(PKLR):c.1483G>A (p.Ala495Thr)	PKLR (A464T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1029781	NM_000298.6(PKLR):c.1469G>A (p.Arg490Gln)	PKLR (R459Q +1 more)	Single nucleotide variant (missense variant)	Pyruvate kinase hyperactivity	GUncertain significance
Select item 292806	NM_000298.6(PKLR):c.1468C>T (p.Arg490Trp)	PKLR (R490W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 440152	NM_000298.6(PKLR):c.1463G>A (p.Arg488Gln)	PKLR (R488Q +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2202852	NM_000298.6(PKLR):c.1462C>T (p.Arg488Ter)	PKLR (R488* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 873616	NM_000298.6(PKLR):c.1457G>A (p.Arg486Gln)	PKLR (R486Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1513	NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)	PKLR (R486W +1 more)	Single nucleotide variant (missense variant)	Pyruvate kinase deficiency of red cells +3 more	GPathogenic/Likely pathogenic
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 1252339	NM_000298.6(PKLR):c.1437-49G>A	PKLR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2030984	NM_000298.6(PKLR):c.1436+2T>C	PKLR	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1350449	NM_000298.6(PKLR):c.1436G>T (p.Arg479Leu)	PKLR (R448L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1510	NM_000298.6(PKLR):c.1436G>A (p.Arg479His)	PKLR (R479H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 994149	NM_000298.6(PKLR):c.1435C>T (p.Arg479Cys)	PKLR (R448C +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2434895	NM_000298.6(PKLR):c.1434C>T (p.Gly478=)	PKLR	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2432647	NM_000298.6(PKLR):c.1425del (p.Thr476fs)	PKLR (T445fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
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 993878	NM_000298.6(PKLR):c.1388C>T (p.Ala463Val)	PKLR (A432V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 225440	NM_000298.6(PKLR):c.1379T>C (p.Val460Ala)	PKLR (V460A +1 more)	Single nucleotide variant (missense variant)	Pyruvate kinase hyperactivity +2 more	GConflicting classifications of pathogenicity
Select item 811906	NM_000298.6(PKLR):c.1378G>A (p.Val460Met)	PKLR (V429M +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1162854	NM_000298.6(PKLR):c.1373G>A (p.Gly458Asp)	PKLR (G427D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 292807	NM_000298.6(PKLR):c.1365C>T (p.Thr455=)	PKLR	Single nucleotide variant (synonymous variant)	PKLR-related disorder +2 more	GConflicting classifications of pathogenicity
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 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 1516	NM_000298.6(PKLR):c.1318G>T (p.Glu440Ter)	PKLR (E440* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic

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