"Revvity Omics, Revvity"[submitter] AND "PDHA1"[gene] - ClinVar - NCBI

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

Search results

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 202188	NM_000284.4(PDHA1):c.422G>A (p.Arg141Gln)	PDHA1 (R141Q +2 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E1-alpha deficiency	GPathogenic
Select item 488569	NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser)	PDHA1 (N164S +2 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase complex deficiency +2 more	GConflicting classifications of pathogenicity
Select item 1324869	NM_000284.4(PDHA1):c.685A>T (p.Met229Leu)	PDHA1 (M198L +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely pathogenic
Select item 1324870	NM_000284.4(PDHA1):c.896_899delTCAG (p.Ser300fs)	PDHA1 (S269fs +3 more)	Deletion (frameshift variant)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely pathogenic
Select item 10879	NM_000284.4(PDHA1):c.904C>T (p.Arg302Cys)	PDHA1 (R302C +3 more)	Single nucleotide variant (missense variant)	PDHA1-related disorder +3 more	GPathogenic
Select item 10872	NM_000284.4(PDHA1):c.934_940del (p.Ser312fs)	PDHA1 (S312fs +3 more)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
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 2689673	NM_000284.4(PDHA1):c.1042_1053del (p.Asp348_Gln351del)	PDHA1	Deletion (inframe_deletion)	Pyruvate dehydrogenase E1-alpha deficiency	GUncertain significance
Select item 1323430	NM_000284.4(PDHA1):c.1133_1140del (p.Arg378fs)	PDHA1 (R347fs +3 more)	Deletion (frameshift variant)	Pyruvate dehydrogenase E1-alpha deficiency	GPathogenic
Select item 214936	NM_000284.4(PDHA1):c.1132C>T (p.Arg378Cys)	PDHA1 (R378C +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase complex deficiency	GPathogenic FDA Recognized database
Select item 422931	NM_000284.4(PDHA1):c.10_12del	PDHA1	Deletion (3 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity