"Diagnostic Laboratory, Department of Genetics, University Medical Cen - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 138649	NM_000925.4(PDHB):c.198A>G (p.Ala66=)	PDHB	Single nucleotide variant (synonymous variant +1 more)	PDHB-related disorder +2 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