"MGZ Medical Genetics Center"[submitter] AND "ACAD9"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 631903	NM_014049.5(ACAD9):c.453+2T>A	ACAD9	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 372249	NM_014049.5(ACAD9):c.509C>T (p.Ala170Val)	ACAD9 (A170V)	Single nucleotide variant (missense variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 242466	NM_014049.5(ACAD9):c.796C>T (p.Arg266Trp)	ACAD9 (R266W)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency +2 more	GPathogenic/Likely pathogenic
Select item 1709869	NM_014049.5(ACAD9):c.803C>T (p.Ser268Phe)	ACAD9 (S145F +1 more)	Single nucleotide variant (missense variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency	GLikely pathogenic
Select item 1708989	NM_014049.5(ACAD9):c.898C>G (p.Leu300Val)	ACAD9, LOC126806807 (L177V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 30883	NM_014049.5(ACAD9):c.976G>C (p.Ala326Pro)	ACAD9 (A326P)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 242461	NM_014049.5(ACAD9):c.1552C>T (p.Arg518Cys)	ACAD9 (R518C)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic

ClinVar