"Fulgent Genetics, Fulgent Genetics"[submitter] AND "BCKDK"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1530225	NM_005881.4(BCKDK):c.717-15C>T	BCKDK	Single nucleotide variant (intron variant)	Branched-chain keto acid dehydrogenase kinase deficiency	GLikely benign
Select item 193685	NM_005881.4(BCKDK):c.904A>G (p.Ile302Val)	BCKDK (I302V)	Single nucleotide variant (missense variant +1 more)	Branched-chain keto acid dehydrogenase kinase deficiency +1 more	GUncertain significance