"Genome-Nilou Lab"[submitter] AND "PDHB"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 991899	NM_000925.4(PDHB):c.836T>C (p.Ile279Thr)	PDHB (I261T +1 more)	Single nucleotide variant (missense variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GUncertain significance
Select item 1209620	NM_000925.4(PDHB):c.582C>G (p.Asn194Lys)	PDHB (N176K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 129880	NM_000925.4(PDHB):c.438G>A (p.Gly146=)	PDHB	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign
Select item 559256	NM_000925.4(PDHB):c.435A>G (p.Arg145=)	PDHB	Single nucleotide variant (synonymous variant +2 more)	Pyruvate dehydrogenase E1-beta deficiency +1 more	GBenign
Select item 1174026	NM_000925.4(PDHB):c.267+42G>A	PDHB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 901694	NM_000925.4(PDHB):c.45C>G (p.Val15=)	LOC129936949, PDHB	Single nucleotide variant (synonymous variant +2 more)	Pyruvate dehydrogenase E1-beta deficiency	GConflicting classifications of pathogenicity
Select item 989801	NM_000925.4(PDHB):c.-4C>T	PDHB	Single nucleotide variant (5 prime UTR variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency	GUncertain significance

ClinVar