"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "PDHB"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 559255	NM_000925.4(PDHB):c.495G>T (p.Trp165Cys)	PDHB (W165C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 138649	NM_000925.4(PDHB):c.198A>G (p.Ala66=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency +1 more	GBenign/Likely benign
Select item 138648	NM_000925.4(PDHB):c.132T>C (p.Asp44=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	Pyruvate dehydrogenase E1-beta deficiency +2 more	GBenign/Likely benign

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