Related gene-specific medical variations for Gene (Select 27034) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2439095	NM_014384.3(ACAD8):c.205C>T (p.Gln69Ter)	ACAD8 (Q69*)	Single nucleotide variant (nonsense)	Deficiency of isobutyryl-CoA dehydrogenase	GLikely pathogenic
Select item 2438797	NM_014384.3(ACAD8):c.687T>G (p.Phe229Leu)	ACAD8 (F229L)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 806759	NM_014384.3(ACAD8):c.862G>A (p.Ala288Thr)	ACAD8 (A288T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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