ClinVar for MedGen (Select 473069) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 119

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2682175	NM_000298.6(PKLR):c.754G>A (p.Val252Met)	PKLR (V221M +1 more)	Single nucleotide variant (missense variant)	Pyruvate kinase deficiency of red cells +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 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 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 2437867	NM_000298.6(PKLR):c.1022G>C (p.Gly341Ala)	PKLR (G310A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 1705526	NM_000298.6(PKLR):c.694+43C>T	PKLR	Single nucleotide variant (intron variant)	Pyruvate kinase deficiency of red cells	GUncertain significance
Select item 1705435	NM_000298.6(PKLR):c.451G>A (p.Val151Met)	PKLR (V120M +1 more)	Single nucleotide variant (missense variant)	Pyruvate kinase deficiency of red cells	GUncertain significance
Select item 1705406	NM_000298.6(PKLR):c.227T>C (p.Leu76Pro)	PKLR (L45P +1 more)	Single nucleotide variant (missense variant)	Pyruvate kinase deficiency of red cells	GUncertain significance
Select item 1705384	NM_000298.6(PKLR):c.808C>T (p.Arg270Ter)	PKLR (R239* +1 more)	Single nucleotide variant (nonsense)	Pyruvate kinase deficiency of red cells +1 more	GPathogenic
Select item 1687614	NM_000298.6(PKLR):c.1061A>G (p.Lys354Arg)	PKLR (K323R +1 more)	Single nucleotide variant (missense variant)	Pyruvate kinase deficiency of red cells	GUncertain significance
Select item 1687598	NM_000298.6(PKLR):c.945G>C (p.Glu315Asp)	PKLR (E284D +1 more)	Single nucleotide variant (missense variant)	Pyruvate kinase deficiency of red cells	GUncertain significance
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 1687454	NM_000298.6(PKLR):c.1217G>A (p.Gly406Glu)	PKLR (G375E +1 more)	Single nucleotide variant (missense variant)	Pyruvate kinase deficiency of red cells	GUncertain significance
Select item 1687397	NM_000298.6(PKLR):c.1015del (p.Asp339fs)	PKLR (D308fs +1 more)	Deletion (frameshift variant)	Pyruvate kinase deficiency of red cells	GPathogenic
Select item 1675379	NM_000298.6(PKLR):c.1277G>A (p.Arg426Gln)	PKLR (R395Q +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1501779	NM_000298.6(PKLR):c.1015G>A (p.Asp339Asn)	PKLR (D339N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1299505	NM_000298.6(PKLR):c.224T>C (p.Leu75Pro)	PKLR (L44P +1 more)	Single nucleotide variant (missense variant)	Pyruvate kinase deficiency of red cells	GLikely pathogenic
Select item 1187215	NM_000298.6(PKLR):c.1178A>G (p.Asn393Ser)	PKLR (N362S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1163647	NM_000298.6(PKLR):c.307del (p.Arg103fs)	PKLR (R103fs +1 more)	Deletion (frameshift variant)	Pyruvate kinase deficiency of red cells +1 more	GPathogenic/Likely pathogenic
Select item 1163645	NM_000298.6(PKLR):c.826del (p.Val276fs)	PKLR (V245fs +1 more)	Deletion (frameshift variant)	PKLR-related disorder +1 more	GPathogenic
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 993464	NM_000298.6(PKLR):c.814C>G (p.Leu272Val)	PKLR (L241V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 876547	NM_000298.6(PKLR):c.122G>A (p.Arg41Gln)	PKLR (R10Q +1 more)	Single nucleotide variant (missense variant)	PKLR-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 876546	NM_000298.6(PKLR):c.375+10G>T	PKLR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 876545	NM_000298.6(PKLR):c.376-11C>G	PKLR	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 876509	NM_000298.6(PKLR):c.1706G>A (p.Arg569Gln)	PKLR (R538Q +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	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 875547	NM_000298.6(PKLR):c.491C>A (p.Thr164Asn)	PKLR (T133N +1 more)	Single nucleotide variant (missense variant)	Pyruvate kinase deficiency of red cells	GUncertain significance
Select item 875546	NM_000298.6(PKLR):c.505G>T (p.Gly169Trp)	PKLR (G138W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 875545	NM_000298.6(PKLR):c.507+14C>A	PKLR	Single nucleotide variant (intron variant)	Pyruvate kinase deficiency of red cells +1 more	GConflicting classifications of pathogenicity
Select item 875544	NM_000298.6(PKLR):c.731G>A (p.Gly244Asp)	PKLR (G244D +1 more)	Single nucleotide variant (missense variant)	Pyruvate kinase deficiency of red cells	GUncertain significance
Select item 875543	NM_000298.6(PKLR):c.805G>T (p.Val269Phe)	PKLR (V238F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 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 874619	NM_000298.6(PKLR):c.966-12C>T	PKLR	Single nucleotide variant (intron variant)	Pyruvate kinase deficiency of red cells	GUncertain significance
Select item 874618	NM_000298.6(PKLR):c.966G>T (p.Arg322Ser)	PKLR (R291S +1 more)	Single nucleotide variant (missense variant)	Pyruvate kinase deficiency of red cells	GUncertain significance
Select item 874617	NM_000298.6(PKLR):c.972T>C (p.Asp324=)	PKLR	Single nucleotide variant (synonymous variant)	PKLR-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 874616	NM_000298.6(PKLR):c.1088C>A (p.Ala363Glu)	PKLR (A363E +1 more)	Single nucleotide variant (missense 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 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 873675	NM_000298.6(PKLR):c.-31G>A	PKLR	Single nucleotide variant (5 prime UTR variant)	Pyruvate kinase deficiency of red cells	GUncertain significance
Select item 873674	NM_000298.6(PKLR):c.92C>T (p.Ala31Val)	PKLR (A31V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 873619	NM_000298.6(PKLR):c.1117-13C>T	PKLR	Single nucleotide variant (intron variant)	Pyruvate kinase deficiency of red cells	GUncertain significance
Select item 873618	NM_000298.6(PKLR):c.1117-4C>G	PKLR	Single nucleotide variant (intron variant)	Pyruvate kinase deficiency of red cells	GUncertain significance
Select item 873617	NM_000298.6(PKLR):c.1303C>T (p.Arg435Trp)	PKLR (R435W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 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 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 816680	NM_000298.6(PKLR):c.1082A>C (p.Asn361Thr)	PKLR (N330T +1 more)	Single nucleotide variant (missense variant)	Pyruvate kinase deficiency of red cells +1 more	GConflicting classifications of pathogenicity
Select item 801556	NM_000298.6(PKLR):c.1269+43T>C	PKLR	Single nucleotide variant (intron variant)	Pyruvate kinase deficiency of red cells +1 more	GConflicting classifications of pathogenicity
Select item 767707	NM_000298.6(PKLR):c.829G>A (p.Glu277Lys)	PKLR (E246K +1 more)	Single nucleotide variant (missense variant)	PKLR-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 631568	NM_000298.6(PKLR):c.507G>A (p.Gly169=)	PKLR	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 631567	NM_000298.6(PKLR):c.943G>A (p.Glu315Lys)	PKLR (E315K +1 more)	Single nucleotide variant (missense variant)	Pyruvate kinase deficiency of red cells	GUncertain significance
Select item 631566	NM_000298.6(PKLR):c.1081A>G (p.Asn361Asp)	PKLR (N361D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 626259	NM_000298.6(PKLR):c.1067T>G (p.Met356Arg)	PKLR (M356R +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 522658	NM_000298.6(PKLR):c.331G>A (p.Gly111Arg)	PKLR (G111R +1 more)	Single nucleotide variant (missense variant)	Pyruvate kinase deficiency of red cells +1 more	GPathogenic/Likely 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 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 292822	NM_000298.6(PKLR):c.-26C>T	PKLR	Single nucleotide variant (5 prime UTR variant)	Pyruvate kinase deficiency of red cells	GUncertain significance
Select item 292821	NM_000298.6(PKLR):c.6G>A (p.Ser2=)	PKLR	Single nucleotide variant (synonymous variant)	Pyruvate kinase deficiency of red cells +1 more	GConflicting classifications of pathogenicity
Select item 292820	NM_000298.6(PKLR):c.111G>T (p.Gly37=)	PKLR	Single nucleotide variant (synonymous variant)	Pyruvate kinase deficiency of red cells +1 more	GConflicting classifications of pathogenicity
Select item 292819	NM_000298.6(PKLR):c.121C>T (p.Arg41Trp)	PKLR (R41W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 292818	NM_000298.6(PKLR):c.181C>T (p.Leu61=)	PKLR	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 292817	NM_000298.6(PKLR):c.188C>G (p.Ala63Gly)	PKLR (A63G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 292816	NM_000298.6(PKLR):c.284-9T>C	PKLR	Single nucleotide variant (intron variant)	Pyruvate kinase deficiency of red cells	GUncertain significance
Select item 292815	NM_000298.6(PKLR):c.391_393del (p.Ile131del)	PKLR (I131del +1 more)	Deletion (inframe_deletion)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 292814	NM_000298.6(PKLR):c.639G>T (p.Val213=)	PKLR	Single nucleotide variant (synonymous variant)	Pyruvate kinase deficiency of red cells	GUncertain significance
Select item 292813	NM_000298.6(PKLR):c.727G>A (p.Gly243Ser)	PKLR (G243S +1 more)	Single nucleotide variant (missense variant)	Pyruvate kinase deficiency of red cells	GUncertain significance
Select item 292812	NM_000298.6(PKLR):c.790C>T (p.Leu264=)	PKLR	Single nucleotide variant (synonymous variant)	Pyruvate kinase deficiency of red cells +1 more	GConflicting classifications of pathogenicity
Select item 292811	NM_000298.6(PKLR):c.909G>C (p.Pro303=)	PKLR	Single nucleotide variant (synonymous variant)	Pyruvate kinase deficiency of red cells	GUncertain significance
Select item 292810	NM_000298.6(PKLR):c.918C>A (p.His306Gln)	PKLR (H306Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 292809	NM_000298.6(PKLR):c.965+12G>A	PKLR	Single nucleotide variant (intron variant)	Pyruvate kinase deficiency of red cells +1 more	GConflicting classifications of pathogenicity
Select item 292808	NM_000298.6(PKLR):c.1250C>T (p.Ala417Val)	PKLR (A417V +1 more)	Single nucleotide variant (missense variant)	Pyruvate kinase deficiency of red cells	GUncertain significance
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 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 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 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 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 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 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 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 292799	NM_000298.6(PKLR):c.346_348del	PKLR	Deletion (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 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 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 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 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 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

<< First< Prev

Page of 2