"PreventionGenetics, part of Exact Sciences"[submitter] AND "PDHA1"[ge - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 214932	NM_000284.4(PDHA1):c.97G>C (p.Asp33His)	PDHA1 (D33H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 2633041	NM_000284.4(PDHA1):c.395G>A (p.Arg132Gln)	PDHA1 (R132Q +2 more)	Single nucleotide variant (missense variant)	PDHA1-related disorder	GUncertain significance
Select item 285003	NM_000284.4(PDHA1):c.507G>A (p.Ala169=)	PDHA1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 3053046	NM_000284.4(PDHA1):c.759+23C>T	PDHA1	Single nucleotide variant (intron variant)	PDHA1-related disorder	GLikely benign
Select item 208783	NM_000284.4(PDHA1):c.784G>A (p.Val262Ile)	PDHA1 (V262I +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1149228	NM_000284.4(PDHA1):c.867C>T (p.Tyr289=)	PDHA1	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E1-alpha deficiency +1 more	GLikely benign
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 378343	NM_000284.4(PDHA1):c.999A>C (p.Glu333Asp)	PDHA1 (E333D +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase complex deficiency	GBenign FDA Recognized database
Select item 3041726	NM_000284.4(PDHA1):c.*83AATGAAATTC[1]	PDHA1	Microsatellite (3 prime UTR variant)	PDHA1-related disorder	GLikely benign
Select item 3052383	NM_000284.4(PDHA1):c.*90T>A	PDHA1	Single nucleotide variant (3 prime UTR variant)	PDHA1-related disorder	GLikely benign
Select item 3060782	NM_000284.4(PDHA1):c.1089_1092dup	MAP3K15, PDHA1	Duplication (3 prime UTR variant)	PDHA1-related disorder	GLikely benign
Select item 913384	NM_000284.4(PDHA1):c.*1682T>C	MAP3K15, PDHA1	Single nucleotide variant (3 prime UTR variant +1 more)	Pyruvate dehydrogenase E1-alpha deficiency +1 more	GBenign
Select item 376916	NM_000284.4(PDHA1):c.*1869G>C	MAP3K15, PDHA1 (Q1251E)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E1-alpha deficiency +2 more	GBenign
Select item 2636120	NM_001001671.4(MAP3K15):c.3686C>G (p.Thr1229Arg)	MAP3K15, PDHA1 (T1229R)	Single nucleotide variant (missense variant +1 more)	MAP3K15-related disorder	GUncertain significance