Related gene-specific medical variations for Gene (Select 5313) - ClinVar

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3247880	NC_000001.10:g.(?_155260363)_(155265567_?)del	PKLR	Deletion	not provided	GPathogenic
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 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 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 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 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 2437871	NM_000298.6(PKLR):c.1573del (p.Trp525fs)	PKLR (W494fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
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 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 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 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 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
Select item 2434893	NM_000298.6(PKLR):c.740G>A (p.Gly247Asp)	PKLR (G216D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2434891	NM_000298.6(PKLR):c.1252G>A (p.Val418Met)	PKLR (V387M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434889	NM_000298.6(PKLR):c.716A>C (p.Gln239Pro)	PKLR (Q208P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434888	NM_000298.6(PKLR):c.1129A>G (p.Met377Val)	PKLR (M346V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432723	NM_000298.6(PKLR):c.494G>T (p.Gly165Val)	PKLR (G134V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2432711	NM_000298.6(PKLR):c.100+1G>A	PKLR	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2432703	NM_000298.6(PKLR):c.1073G>A (p.Gly358Glu)	PKLR (G327E +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2432697	NM_000298.6(PKLR):c.1022G>A (p.Gly341Asp)	PKLR (G310D +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2432690	NM_000298.6(PKLR):c.823G>A (p.Gly275Arg)	PKLR (G244R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 2432664	NM_000298.6(PKLR):c.359C>T (p.Ser120Phe)	PKLR (S120F +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2432653	NM_000298.6(PKLR):c.994_1003dup (p.Val335fs)	PKLR (V304fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2432647	NM_000298.6(PKLR):c.1425del (p.Thr476fs)	PKLR (T445fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2428666	NM_000298.6(PKLR):c.694+41G>T	PKLR	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2428591	NM_000298.6(PKLR):c.20T>C (p.Ile7Thr)	PKLR (I7T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1679450	NC_000001.11:g.155301467T>C	PKLR	Single nucleotide variant	not provided	GLikely pathogenic
Select item 1331076	NM_000298.6(PKLR):c.694+42G>C	PKLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1331060	NM_000298.6(PKLR):c.1619-3C>A	PKLR	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1330987	NM_000298.6(PKLR):c.1180G>A (p.Ala394Thr)	PKLR (A363T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1330671	NM_000298.6(PKLR):c.376-1G>A	PKLR	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1330465	NM_000298.6(PKLR):c.1116G>A (p.Gln372=)	PKLR	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
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 1324922	NM_000298.6(PKLR):c.476G>T (p.Gly159Val)	PKLR (G128V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 995669	NM_000298.6(PKLR):c.1270-15T>G	PKLR	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 994391	NM_000298.6(PKLR):c.1272T>G (p.Ile424Met)	PKLR (I393M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 994037	NM_000298.6(PKLR):c.86T>C (p.Ile29Thr)	PKLR (I29T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 993926	NM_000298.6(PKLR):c.1049T>C (p.Phe350Ser)	PKLR (F319S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 875491	NM_000298.6(PKLR):c.*735A>G	HCN3, PKLR	Single nucleotide variant (3 prime UTR variant +1 more)	Pyruvate kinase deficiency of red cells	GUncertain significance
Select item 874567	NM_000298.6(PKLR):c.*755T>C	HCN3, PKLR	Single nucleotide variant (3 prime UTR variant +1 more)	Pyruvate kinase deficiency of red cells	GUncertain significance
Select item 874566	NM_000298.6(PKLR):c.*1105G>A	HCN3, PKLR	Single nucleotide variant (3 prime UTR variant +1 more)	Pyruvate kinase deficiency of red cells	GUncertain significance
Select item 873569	NM_000298.6(PKLR):c.*1277G>A	HCN3, PKLR	Single nucleotide variant (3 prime UTR variant +1 more)	Pyruvate kinase deficiency of red cells	GUncertain significance
Select item 812062	NM_000298.6(PKLR):c.379C>G (p.His127Asp)	PKLR (H127D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 811905	NM_000298.6(PKLR):c.380A>G (p.His127Arg)	PKLR (H127R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 811345	NM_000298.6(PKLR):c.302T>C (p.Val101Ala)	PKLR (V101A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 811293	NM_000298.6(PKLR):c.100+407G>T	PKLR	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 811249	NM_000298.6(PKLR):c.169C>T (p.Gln57Ter)	PKLR (Q26* +1 more)	Single nucleotide variant (nonsense)	not specified	GPathogenic
Select item 811116	NM_000298.6(PKLR):c.507+1G>A	PKLR	Single nucleotide variant (splice donor variant)	not specified	GPathogenic
Select item 292795	NM_000298.6(PKLR):c.*779C>A	HCN3, PKLR	Single nucleotide variant (3 prime UTR variant +1 more)	Pyruvate kinase deficiency of red cells	GUncertain significance
Select item 292794	NM_000298.6(PKLR):c.*866T>C	HCN3, PKLR	Single nucleotide variant (3 prime UTR variant +1 more)	Pyruvate kinase deficiency of red cells	GUncertain significance
Select item 292793	NM_000298.6(PKLR):c.*893T>G	HCN3, PKLR	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 292792	NM_000298.6(PKLR):c.*1040G>A	HCN3, PKLR	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 292791	NM_000298.6(PKLR):c.*1041C>T	HCN3, PKLR	Single nucleotide variant (3 prime UTR variant +1 more)	Pyruvate kinase deficiency of red cells	GUncertain significance
Select item 292790	NM_000298.6(PKLR):c.*1067T>C	HCN3, PKLR	Single nucleotide variant (3 prime UTR variant +1 more)	Pyruvate kinase deficiency of red cells	GUncertain significance
Select item 1505	PKLR, 1-BP DEL	PKLR	Deletion	Pyruvate kinase deficiency of red cells	GPathogenic

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Items: 82