"Revvity Omics, Revvity"[submitter] AND "ACAD8"[gene] - ClinVar - NCBI

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Items: 8

	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 1428276	NM_014384.3(ACAD8):c.235C>G (p.Arg79Gly)	ACAD8 (R79G)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 468863	NM_014384.3(ACAD8):c.409G>A (p.Gly137Arg)	ACAD8 (G137R)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase +1 more	GConflicting classifications of pathogenicity
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 878974	NM_014384.3(ACAD8):c.806C>T (p.Ala269Val)	ACAD8 (A269V)	Single nucleotide variant (missense variant)	Deficiency of isobutyryl-CoA dehydrogenase	GUncertain significance
Select item 372297	NM_014384.3(ACAD8):c.958G>A (p.Ala320Thr)	ACAD8 (A320T)	Single nucleotide variant (missense variant)	ACAD8-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 5357	NM_014384.3(ACAD8):c.988C>T (p.Arg330Trp)	ACAD8 (R330W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1107235	NM_014384.3(ACAD8):c.1162G>A (p.Val388Met)	ACAD8 (V388M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity