"GeneDx"[submitter] AND "PDHA1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1228853	NC_000023.11:g.19343714del	PDHA1	Deletion	not provided	GBenign
Select item 1268499	NC_000023.11:g.19343733G>T	PDHA1	Single nucleotide variant	not provided	GBenign
Select item 1217752	NC_000023.11:g.19343829T>C	PDHA1	Single nucleotide variant	not provided	GLikely benign
Select item 676247	NM_000284.3(PDHA1):c.-195G>A	PDHA1	Single nucleotide variant	not provided	GBenign
Select item 914925	NM_000284.4(PDHA1):c.-88G>A	PDHA1	Single nucleotide variant (5 prime UTR variant)	Pyruvate dehydrogenase E1-alpha deficiency +1 more	GBenign
Select item 392144	NM_000284.4(PDHA1):c.-23G>C	PDHA1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1311576	NM_000284.4(PDHA1):c.31G>A (p.Val11Met)	PDHA1 (V11M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2822006	NM_000284.4(PDHA1):c.47C>T (p.Ser16Phe)	PDHA1 (S16F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1223524	NM_000284.4(PDHA1):c.57+289T>C	PDHA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203753	NM_000284.4(PDHA1):c.57+2160G>A	PDHA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 445393	NM_000284.4(PDHA1):c.57+2410dup	PDHA1	Duplication (intron variant)	not provided	GLikely benign
Select item 1233499	NM_000284.4(PDHA1):c.57+2432C>T	PDHA1 (T25M)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 377151	NM_000284.4(PDHA1):c.57+2482G>A	PDHA1 (G42S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1241540	NM_000284.4(PDHA1):c.57+2591A>G	PDHA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266071	NM_000284.4(PDHA1):c.58-2558T>A	PDHA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265154	NM_000284.4(PDHA1):c.58-260A>C	PDHA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213276	NM_000284.4(PDHA1):c.58-84C>T	PDHA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1722962	NM_000284.4(PDHA1):c.67G>A (p.Val23Met)	PDHA1 (V23M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214948	NM_000284.4(PDHA1):c.82C>T (p.Arg28Cys)	PDHA1 (R28C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 214932	NM_000284.4(PDHA1):c.97G>C (p.Asp33His)	PDHA1 (D33H +1 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E1-alpha deficiency +3 more	GBenign/Likely benign
Select item 381855	NM_000284.4(PDHA1):c.117+19T>A	PDHA1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1298025	NM_000284.4(PDHA1):c.118-76G>A	PDHA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 510596	NM_000284.4(PDHA1):c.118-17A>G	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency +1 more	GBenign/Likely benign
Select item 517110	NM_000284.4(PDHA1):c.147C>T (p.Gly49=)	PDHA1	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E1-alpha deficiency +1 more	GLikely benign
Select item 214938	NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys)	PDHA1 (R72C +1 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase complex deficiency	GLikely pathogenic FDA Recognized database
Select item 3342396	NM_000284.4(PDHA1):c.217C>T (p.Arg73Ter)	PDHA1 (R111* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 518063	NM_000284.4(PDHA1):c.252G>A (p.Gln84=)	PDHA1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2662437	NM_000284.4(PDHA1):c.262C>T (p.Arg88Cys)	PDHA1 (R126C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1314725	NM_000284.4(PDHA1):c.263G>A (p.Arg88His)	PDHA1 (R126H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1290982	NM_000284.4(PDHA1):c.291+52C>T	PDHA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209109	NM_000284.4(PDHA1):c.291+74C>T	PDHA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179781	NM_000284.4(PDHA1):c.292-304T>A	PDHA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216754	NM_000284.4(PDHA1):c.292-59C>T	PDHA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 516457	NM_000284.4(PDHA1):c.292-5C>T	PDHA1 (T103I)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E1-alpha deficiency +1 more	GBenign/Likely benign
Select item 214939	NM_000284.4(PDHA1):c.292-1G>A	PDHA1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GPathogenic
Select item 197128	NM_000284.4(PDHA1):c.311T>C (p.Leu104Pro)	PDHA1 (L104P +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3370682	NM_000284.4(PDHA1):c.359C>T (p.Ala120Val)	PDHA1 (A120V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 509459	NM_000284.4(PDHA1):c.363C>T (p.His121=)	PDHA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 431915	NM_000284.4(PDHA1):c.364G>A (p.Gly122Ser)	PDHA1 (G122S +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 511141	NM_000284.4(PDHA1):c.396A>C (p.Arg132=)	PDHA1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 432213	NM_000284.4(PDHA1):c.409G>A (p.Glu137Lys)	PDHA1 (E137K +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 683396	NM_000284.4(PDHA1):c.419-249T>C	PDHA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 202188	NM_000284.4(PDHA1):c.422G>A (p.Arg141Gln)	PDHA1 (R141Q +2 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E1-alpha deficiency +1 more	GPathogenic
Select item 1723490	NM_000284.4(PDHA1):c.425A>C (p.Lys142Thr)	PDHA1 (K142T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575762	NM_000284.4(PDHA1):c.447A>G (p.Lys149=)	PDHA1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 512149	NM_000284.4(PDHA1):c.456G>A (p.Ser152=)	PDHA1	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E1-alpha deficiency +1 more	GLikely benign
Select item 214943	NM_000284.4(PDHA1):c.463A>T (p.Met155Leu)	PDHA1 (M155L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 560929	NM_000284.4(PDHA1):c.482A>G (p.Tyr161Cys)	PDHA1 (Y161C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 92770	NM_000284.4(PDHA1):c.483C>T (p.Tyr161=)	PDHA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GPathogenic
Select item 488569	NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser)	PDHA1 (N164S +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1188095	NM_000284.4(PDHA1):c.498C>T (p.Ile166=)	PDHA1	Single nucleotide variant (synonymous variant)	not provided	GPathogenic
Select item 985548	NM_000284.4(PDHA1):c.499G>A (p.Val167Met)	PDHA1 (V167M +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental delay +2 more	GPathogenic/Likely pathogenic
Select item 214941	NM_000284.4(PDHA1):c.506C>T (p.Ala169Val)	PDHA1 (A169V +2 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase complex deficiency	GPathogenic FDA Recognized database
Select item 285003	NM_000284.4(PDHA1):c.507G>A (p.Ala169=)	PDHA1	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E1-alpha deficiency +2 more	GConflicting classifications of pathogenicity
Select item 378340	NM_000284.4(PDHA1):c.510+12C>T	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency +2 more	GBenign
Select item 674172	NM_000284.4(PDHA1):c.510+187C>T	PDHA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683398	NM_000284.4(PDHA1):c.510+236G>T	PDHA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683399	NM_000284.4(PDHA1):c.511-178G>C	PDHA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202473	NM_000284.4(PDHA1):c.511-54G>A	PDHA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1801986	NM_000284.4(PDHA1):c.517C>G (p.Leu173Val)	PDHA1 (L173V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2577838	NM_000284.4(PDHA1):c.523G>T (p.Ala175Ser)	PDHA1 (A175S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3368110	NM_000284.4(PDHA1):c.526G>A (p.Gly176Arg)	PDHA1 (G176R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1309142	NM_000284.4(PDHA1):c.535C>G (p.Leu179Val)	PDHA1 (L179V +2 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E1-alpha deficiency +1 more	GUncertain significance
Select item 1700785	NM_000284.4(PDHA1):c.548A>G (p.Tyr183Cys)	PDHA1 (Y183C +2 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E1-alpha deficiency +1 more	GUncertain significance
Select item 1307558	NM_000284.4(PDHA1):c.559G>C (p.Asp187His)	PDHA1 (D187H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3365215	NM_000284.4(PDHA1):c.584G>A (p.Gly195Asp)	PDHA1 (G195D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 138645	NM_000284.4(PDHA1):c.604-15C>T	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency +2 more	GBenign
Select item 378341	NM_000284.4(PDHA1):c.604-14G>A	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency +2 more	GBenign/Likely benign
Select item 214930	NM_000284.4(PDHA1):c.604-10C>T	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency +2 more	GBenign
Select item 620304	NM_000284.4(PDHA1):c.642G>A (p.Trp214Ter)	PDHA1 (W214* +3 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2504397	NM_000284.4(PDHA1):c.643A>G (p.Lys215Glu)	PDHA1 (K184E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 430118	NM_000284.4(PDHA1):c.650C>T (p.Pro217Leu)	PDHA1 (P217L +3 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 381875	NM_000284.4(PDHA1):c.693G>A (p.Thr231=)	PDHA1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 817680	NM_000284.4(PDHA1):c.711_738dup (p.Asp247delinsSerGlnHisTer)	PDHA1	Duplication (nonsense)	not provided	GPathogenic
Select item 214933	NM_000284.4(PDHA1):c.707C>A (p.Ala236Glu)	PDHA1 (A236E +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 817507	NM_000284.4(PDHA1):c.724_727dup (p.Tyr243fs)	PDHA1 (Y250fs +3 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3375522	NM_000284.4(PDHA1):c.733A>G (p.Arg245Gly)	PDHA1 (R214G +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 432160	NM_000284.4(PDHA1):c.738C>T (p.Gly246=)	PDHA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 991385	NM_000284.4(PDHA1):c.739G>A (p.Asp247Asn)	PDHA1 (D216N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 418402	NM_000284.4(PDHA1):c.746T>G (p.Ile249Ser)	PDHA1 (I249S +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 432082	NM_000284.4(PDHA1):c.754C>G (p.Leu252Val)	PDHA1 (L252V +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 419233	NM_000284.4(PDHA1):c.759+26GGCCAA[4]	PDHA1	Microsatellite (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1165057	NM_000284.4(PDHA1):c.759+26GGCCAA[2]	PDHA1	Microsatellite (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency +1 more	GBenign
Select item 92771	NM_000284.4(PDHA1):c.760-15C>A	PDHA1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1712058	NM_000284.4(PDHA1):c.760-3C>G	PDHA1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 265640	NM_000284.4(PDHA1):c.760-1G>T	PDHA1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 3340647	NM_000284.4(PDHA1):c.783C>A (p.Cys261Ter)	PDHA1 (C230* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 208783	NM_000284.4(PDHA1):c.784G>A (p.Val262Ile)	PDHA1 (V262I +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E1-alpha deficiency +2 more	GBenign/Likely benign
Select item 1190221	NM_000284.4(PDHA1):c.787C>T (p.Arg263Ter)	PDHA1 (R232* +3 more)	Single nucleotide variant (nonsense)	Pyruvate dehydrogenase E1-alpha deficiency +1 more	GPathogenic
Select item 10878	NM_000284.4(PDHA1):c.787C>G (p.Arg263Gly)	PDHA1 (R263G +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1184474	NM_000284.4(PDHA1):c.788G>C (p.Arg263Pro)	PDHA1 (R232P +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E1-alpha deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2128115	NM_000284.4(PDHA1):c.790G>A (p.Glu264Lys)	PDHA1 (E233K +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 92772	NM_000284.4(PDHA1):c.795A>G (p.Ala265=)	PDHA1	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase complex deficiency	GBenign FDA Recognized database
Select item 378342	NM_000284.4(PDHA1):c.798A>G (p.Thr266=)	PDHA1	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E1-alpha deficiency +2 more	GBenign/Likely benign
Select item 138646	NM_000284.4(PDHA1):c.831+15C>T	PDHA1	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E1-alpha deficiency +2 more	GBenign
Select item 1248595	NM_000284.4(PDHA1):c.831+92C>G	PDHA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242798	NM_000284.4(PDHA1):c.831+211C>T	PDHA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673748	NM_000284.4(PDHA1):c.832-211A>G	PDHA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201618	NM_000284.4(PDHA1):c.832-118A>G	PDHA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245492	NM_000284.4(PDHA1):c.832-60C>T	PDHA1	Single nucleotide variant (intron variant)	not provided	GBenign

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