ClinVar for MedGen (Select 326486) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3075682	NM_000284.4(PDHA1):c.133delinsATTTCTGGG (p.Arg45fs)	PDHA1 (R45fs +1 more)	Indel (frameshift variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely pathogenic
Select item 3062013	NM_000284.4(PDHA1):c.260T>C (p.Ile87Thr)	PDHA1 (I125T +1 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E1-alpha deficiency	GPathogenic
Select item 3013303	NM_000284.4(PDHA1):c.117+15A>G	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 3005015	NM_000284.4(PDHA1):c.1009-16G>A	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 3000032	NM_000284.4(PDHA1):c.57+17G>C	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2992773	NM_000284.4(PDHA1):c.760-19C>A	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2992459	NM_000284.4(PDHA1):c.1008+4C>T	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GUncertain significance
Select item 2988326	NM_000284.4(PDHA1):c.832-9_832-8del	PDHA1	Deletion (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2986675	NM_000284.4(PDHA1):c.645A>G (p.Lys215=)	PDHA1	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2978428	NM_000284.4(PDHA1):c.105A>G (p.Thr35=)	PDHA1	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2977286	NM_000284.4(PDHA1):c.990C>T (p.Ala330=)	PDHA1	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2974416	NM_000284.4(PDHA1):c.900-18_900-15dup	PDHA1	Duplication (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2957233	NM_000284.4(PDHA1):c.211G>A (p.Val71Ile)	PDHA1 (V71I +1 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2956707	NM_000284.4(PDHA1):c.1009-12_1009-9dup	PDHA1	Duplication (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2919407	NM_000284.4(PDHA1):c.900-8C>G	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GBenign
Select item 2918487	NM_000284.4(PDHA1):c.760-19C>T	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2918271	NM_000284.4(PDHA1):c.511-12C>T	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2917495	NM_000284.4(PDHA1):c.511-19C>T	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2917378	NM_000284.4(PDHA1):c.760-11T>C	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2915239	NM_000284.4(PDHA1):c.900-18_900-14dup	PDHA1	Duplication (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GBenign
Select item 2914397	NM_000284.4(PDHA1):c.58-18A>C	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GBenign
Select item 2913526	NM_000284.4(PDHA1):c.1009-16G>T	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2912696	NM_000284.4(PDHA1):c.1009-16_1009-14dup	PDHA1	Duplication (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2911834	NM_000284.4(PDHA1):c.832-14C>T	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GBenign
Select item 2910408	NM_000284.4(PDHA1):c.292-16C>T	PDHA1	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2908224	NM_000284.4(PDHA1):c.759+21dup	PDHA1	Duplication (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GBenign
Select item 2907112	NM_000284.4(PDHA1):c.831+16C>T	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2902288	NM_000284.4(PDHA1):c.760-14dup	PDHA1	Duplication (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GBenign
Select item 2901646	NM_000284.4(PDHA1):c.419-20G>A	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2892486	NM_000284.4(PDHA1):c.900-10del	PDHA1	Deletion (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2891116	NM_000284.4(PDHA1):c.831+7C>T	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2889636	NM_000284.4(PDHA1):c.1009-31_1009-15del	PDHA1	Deletion (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GBenign
Select item 2889600	NM_000284.4(PDHA1):c.604-14G>C	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2883404	NM_000284.4(PDHA1):c.759+26GGCCAA[5]	PDHA1	Microsatellite (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2883257	NM_000284.4(PDHA1):c.831+18T>G	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2879750	NM_000284.4(PDHA1):c.837C>T (p.Pro279=)	PDHA1	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2872368	NM_000284.4(PDHA1):c.1169_1172dup (p.Ter391=)	PDHA1	Duplication (synonymous variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2866977	NM_000284.4(PDHA1):c.534T>C (p.Ala178=)	PDHA1	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2863937	NM_000284.4(PDHA1):c.899+2T>C	PDHA1	Single nucleotide variant (splice donor variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely pathogenic
Select item 2856416	NM_000284.4(PDHA1):c.681T>C (p.Tyr227=)	PDHA1	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2850189	NM_000284.4(PDHA1):c.1065C>A (p.Ala355=)	PDHA1	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2840986	NM_000284.4(PDHA1):c.900-12_936dup	PDHA1	Duplication (splice acceptor variant)	Pyruvate dehydrogenase E1-alpha deficiency	GUncertain significance
Select item 2837835	NM_000284.4(PDHA1):c.899+15A>C	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2829146	NM_000284.4(PDHA1):c.1009-17_1009-12del	PDHA1	Deletion (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2828484	NM_000284.4(PDHA1):c.354C>T (p.Tyr118=)	PDHA1	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2823389	NM_000284.4(PDHA1):c.696T>A (p.Ser232=)	PDHA1	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2822006	NM_000284.4(PDHA1):c.47C>T (p.Ser16Phe)	PDHA1 (S16F)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E1-alpha deficiency	GUncertain significance
Select item 2816693	NM_000284.4(PDHA1):c.778C>T (p.Leu260=)	PDHA1	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2802880	NM_000284.4(PDHA1):c.516C>T (p.Pro172=)	PDHA1	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2801764	NM_000284.4(PDHA1):c.760-5A>T	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2801658	NM_000284.4(PDHA1):c.844A>T (p.Met282Leu)	PDHA1 (M251L +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2796153	NM_000284.4(PDHA1):c.603+9G>A	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2795237	NM_000284.4(PDHA1):c.613T>C (p.Phe205Leu)	PDHA1 (F212L +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E1-alpha deficiency	GPathogenic
Select item 2792676	NM_000284.4(PDHA1):c.832-14C>G	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2791663	NM_000284.4(PDHA1):c.759+11C>G	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2783468	NM_000284.4(PDHA1):c.1144C>A (p.Gln382Lys)	PDHA1 (Q351K +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E1-alpha deficiency	GUncertain significance
Select item 2776880	NM_000284.4(PDHA1):c.1009-11C>T	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2776094	NM_000284.4(PDHA1):c.1157_*28dup (p.Phe386_Ter391=)	PDHA1	Duplication (no sequence alteration)	Pyruvate dehydrogenase E1-alpha deficiency	GBenign
Select item 2771369	NM_000284.4(PDHA1):c.953T>A (p.Met318Lys)	PDHA1 (M325K +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E1-alpha deficiency	GUncertain significance
Select item 2771251	NM_000284.4(PDHA1):c.57+7C>T	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2766318	NM_000284.4(PDHA1):c.604-4C>G	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2761912	NM_000284.4(PDHA1):c.604-14G>T	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2760834	NM_000284.4(PDHA1):c.760-8_760-5dup	PDHA1	Duplication (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2756572	NM_000284.4(PDHA1):c.552T>C (p.Asn184=)	PDHA1	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2754877	NM_000284.4(PDHA1):c.788G>T (p.Arg263Leu)	PDHA1 (R232L +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely pathogenic
Select item 2753630	NM_000284.4(PDHA1):c.1009-18C>A	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2745183	NM_000284.4(PDHA1):c.1026G>A (p.Val342=)	PDHA1	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2743471	NM_000284.4(PDHA1):c.760-13T>G	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2740459	NM_000284.4(PDHA1):c.604-15C>G	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2740267	NM_000284.4(PDHA1):c.899+15A>G	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2737103	NM_000284.4(PDHA1):c.1148G>A (p.Trp383Ter)	PDHA1 (W383* +3 more)	Single nucleotide variant (nonsense)	Pyruvate dehydrogenase E1-alpha deficiency	GPathogenic
Select item 2737101	NM_000284.4(PDHA1):c.989C>G (p.Ala330Gly)	PDHA1 (A330G +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely pathogenic
Select item 2737100	NM_000284.4(PDHA1):c.515C>T (p.Pro172Leu)	PDHA1 (P179L +2 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E1-alpha deficiency	GPathogenic
Select item 2737098	NM_000284.4(PDHA1):c.383G>A (p.Gly128Asp)	PDHA1 (G135D +2 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely pathogenic
Select item 2734720	NM_000284.4(PDHA1):c.57+16C>T	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2732512	NM_000284.4(PDHA1):c.510+13G>A	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2731362	NM_000284.4(PDHA1):c.759+18GGGGCC[3]	PDHA1	Microsatellite (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GBenign
Select item 2730916	NM_000284.4(PDHA1):c.1009-14T>C	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2717338	NM_000284.4(PDHA1):c.788G>A (p.Arg263Gln)	PDHA1 (R232Q +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E1-alpha deficiency	GPathogenic
Select item 2708995	NM_000284.4(PDHA1):c.419-20G>C	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2705861	NM_000284.4(PDHA1):c.57+17G>A	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2699629	NM_000284.4(PDHA1):c.321C>T (p.Gly107=)	PDHA1	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2694726	NM_000284.4(PDHA1):c.900-16T>C	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely benign
Select item 2689673	NM_000284.4(PDHA1):c.1042_1053del (p.Asp348_Gln351del)	PDHA1	Deletion (inframe_deletion)	Pyruvate dehydrogenase E1-alpha deficiency	GUncertain significance
Select item 2682593	NM_000284.4(PDHA1):c.510+18T>C	PDHA1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2663947	NM_000284.4(PDHA1):c.1143T>G (p.Asn381Lys)	PDHA1 (N350K +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E1-alpha deficiency	GUncertain significance
Select item 2663792	NM_000284.4(PDHA1):c.1149G>A (p.Trp383Ter)	PDHA1 (W352* +3 more)	Single nucleotide variant (nonsense)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely pathogenic
Select item 2584844	NM_000284.4(PDHA1):c.769A>G (p.Met257Val)	PDHA1 (M264V +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E1-alpha deficiency	GUncertain significance
Select item 2584444	NM_000284.4(PDHA1):c.616G>A (p.Glu206Lys)	PDHA1 (E175K +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E1-alpha deficiency	GPathogenic
Select item 2584338	NM_000284.4(PDHA1):c.465G>T (p.Met155Ile)	PDHA1 (M155I +2 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely pathogenic
Select item 2581073	NM_000284.4(PDHA1):c.1159_1164dup (p.Ser388_Val389insLysSer)	PDHA1	Duplication (inframe_insertion)	Pyruvate dehydrogenase E1-alpha deficiency	GUncertain significance
Select item 2580882	NM_000284.4(PDHA1):c.946C>G (p.Pro316Ala)	PDHA1 (P285A +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E1-alpha deficiency	GUncertain significance
Select item 2498132	NM_000284.4(PDHA1):c.766G>A (p.Gly256Arg)	PDHA1 (G225R +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E1-alpha deficiency	GConflicting classifications of pathogenicity
Select item 2434633	NM_000284.4(PDHA1):c.250C>A (p.Gln84Lys)	PDHA1 (Q122K +1 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E1-alpha deficiency	GUncertain significance
Select item 2434632	NM_000284.4(PDHA1):c.118A>G (p.Lys40Glu)	PDHA1 (K40E +1 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E1-alpha deficiency	GUncertain significance
Select item 2432551	NM_000284.4(PDHA1):c.930AAG[3] (p.Arg311_Ser312insArg)	PDHA1	Microsatellite (inframe_insertion)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely pathogenic
Select item 2432545	NM_000284.4(PDHA1):c.195dup (p.Arg66fs)	PDHA1 (R104fs +1 more)	Duplication (frameshift variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely pathogenic
Select item 2422812	NC_000023.10:g.(?_19368035)_(19377771_?)dup	PDHA1	Duplication	Pyruvate dehydrogenase E1-alpha deficiency	GUncertain significance
Select item 2413134	NM_000284.4(PDHA1):c.1103_1108dup (p.Tyr369_Ser370insPheTyr)	PDHA1	Duplication (inframe_insertion)	Pyruvate dehydrogenase E1-alpha deficiency	GUncertain significance
Select item 2413133	NM_000284.4(PDHA1):c.1158_1159insCAGTGGATCAAGTTTA (p.Lys387fs)	PDHA1 (K356fs +3 more)	Insertion (frameshift variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely pathogenic

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