"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "ACAD9"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 214010	NM_014049.5(ACAD9):c.152A>T (p.Lys51Ile)	ACAD9 (K51I)	Single nucleotide variant (missense variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency +1 more	GUncertain significance
Select item 166635	NM_014049.5(ACAD9):c.379A>C (p.Arg127=)	ACAD9	Single nucleotide variant (synonymous variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency +2 more	GBenign
Select item 559262	NM_014049.5(ACAD9):c.422C>T (p.Thr141Ile)	ACAD9 (T141I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 810717	NM_014049.5(ACAD9):c.452A>G (p.Lys151Arg)	ACAD9 (K151R)	Single nucleotide variant (missense variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency +1 more	GUncertain significance
Select item 559263	NM_014049.5(ACAD9):c.453+8A>G	ACAD9	Single nucleotide variant (intron variant)	Acyl-CoA dehydrogenase 9 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1031235	NM_014049.5(ACAD9):c.479A>C (p.Glu160Ala)	ACAD9 (E160A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 343194	NM_014049.5(ACAD9):c.555T>G (p.Ser185Arg)	ACAD9 (S185R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 213989	NM_014049.5(ACAD9):c.928G>A (p.Val310Ile)	ACAD9, LOC126806807 (V310I)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 136253	NM_014049.5(ACAD9):c.976G>A (p.Ala326Thr)	ACAD9 (A326T)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 214001	NM_014049.5(ACAD9):c.1022T>C (p.Leu341Ser)	ACAD9 (L341S)	Single nucleotide variant (missense variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 559264	NM_014049.5(ACAD9):c.1149+5C>A	ACAD9	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 166636	NM_014049.5(ACAD9):c.1279-7A>G	ACAD9	Single nucleotide variant (intron variant)	Acyl-CoA dehydrogenase 9 deficiency +2 more	GBenign
Select item 214007	NM_014049.5(ACAD9):c.1405C>T (p.Arg469Trp)	ACAD9 (R469W)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 214008	NM_014049.5(ACAD9):c.1414C>T (p.Arg472Trp)	ACAD9 (R472W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 136255	NM_014049.5(ACAD9):c.1430G>A (p.Arg477Gln)	ACAD9 (R477Q)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 343203	NM_014049.5(ACAD9):c.1476C>T (p.Pro492=)	ACAD9	Single nucleotide variant (synonymous variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency +1 more	GBenign
Select item 1197496	NM_014049.5(ACAD9):c.1634C>G (p.Ala545Gly)	ACAD9, CFAP92 (A545G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 213993	NM_014049.5(ACAD9):c.1667T>C (p.Ile556Thr)	ACAD9, CFAP92 (I556T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 991434	NM_014049.5(ACAD9):c.1684G>A (p.Asp562Asn)	ACAD9, CFAP92 (D562N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance