C1839413[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 931659	NM_000284.4(PDHA1):c.57+2531T>C	PDHA1	Single nucleotide variant (intron variant +1 more)	Pyruvate dehydrogenase E1-alpha deficiency	GLikely pathogenic
Select item 373898	NM_000284.4(PDHA1):c.65G>C (p.Arg22Thr)	PDHA1 (R22T +1 more)	Single nucleotide variant (missense variant)	Seizure +2 more	GUncertain significance
Select item 92770	NM_000284.4(PDHA1):c.483C>T (p.Tyr161=)	PDHA1	Single nucleotide variant (synonymous variant)	Pyruvate dehydrogenase E1-alpha deficiency +1 more	GPathogenic
Select item 10882	NM_000284.4(PDHA1):c.615C>G (p.Phe205Leu)	PDHA1 (F205L +3 more)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E1-alpha deficiency	GPathogenic/Likely pathogenic
Select item 931363	NM_000284.4(PDHA1):c.998_1008+20dup	PDHA1	Duplication (splice donor variant)	Pyruvate dehydrogenase E1-alpha deficiency	GUncertain significance
Select item 931995	NM_000284.4(PDHA1):c.1014_1034dup (p.Lys344_Glu345insAspAspValGluValArgLys)	PDHA1	Duplication (inframe_insertion)	Pyruvate dehydrogenase E1-alpha deficiency	GUncertain significance

ClinVar