"Ambry Genetics"[submitter] AND "ACAD9"[gene] - ClinVar

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

Search results

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2295928	NM_014049.5(ACAD9):c.6C>G (p.Ser2Arg)	ACAD9 (S2R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2172282	NM_014049.5(ACAD9):c.56G>T (p.Gly19Val)	ACAD9 (G19V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1399854	NM_014049.5(ACAD9):c.73G>A (p.Ala25Thr)	ACAD9 (A25T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2188326	NM_014049.5(ACAD9):c.77A>G (p.Asn26Ser)	ACAD9 (N26S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 214013	NM_014049.5(ACAD9):c.91C>T (p.Arg31Cys)	ACAD9 (R31C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2200106	NM_014049.5(ACAD9):c.100C>T (p.Pro34Ser)	ACAD9 (P34S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2474244	NM_014049.5(ACAD9):c.200T>C (p.Ile67Thr)	ACAD9 (I67T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1031234	NM_014049.5(ACAD9):c.220G>A (p.Val74Met)	ACAD9 (V74M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 903613	NM_014049.5(ACAD9):c.284A>C (p.Asp95Ala)	ACAD9 (D95A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2611994	NM_014049.5(ACAD9):c.330A>T (p.Gln110His)	ACAD9 (Q110H)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
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 2607413	NM_014049.5(ACAD9):c.475G>A (p.Glu159Lys)	ACAD9 (E36K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1031235	NM_014049.5(ACAD9):c.479A>C (p.Glu160Ala)	ACAD9 (E160A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2073719	NM_014049.5(ACAD9):c.623A>G (p.Asn208Ser)	ACAD9 (N85S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1422993	NM_014049.5(ACAD9):c.656T>G (p.Leu219Arg)	ACAD9 (L219R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 900022	NM_014049.5(ACAD9):c.778G>A (p.Glu260Lys)	ACAD9 (E260K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2327712	NM_014049.5(ACAD9):c.794T>C (p.Ile265Thr)	ACAD9 (I142T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2221227	NM_014049.5(ACAD9):c.899T>G (p.Leu300Arg)	ACAD9, LOC126806807 (L300R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 213990	NM_014049.5(ACAD9):c.931G>A (p.Val311Met)	LOC126806807, ACAD9 (V311M)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 242464	NM_014049.5(ACAD9):c.1030-1G>T	ACAD9	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2492895	NM_014049.5(ACAD9):c.1132G>A (p.Glu378Lys)	ACAD9 (E255K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 559264	NM_014049.5(ACAD9):c.1149+5C>A	ACAD9	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 343197	NM_014049.5(ACAD9):c.1190C>T (p.Ala397Val)	ACAD9 (A397V)	Single nucleotide variant (missense variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency +1 more	GUncertain significance
Select item 2308547	NM_014049.5(ACAD9):c.1235A>T (p.Tyr412Phe)	ACAD9 (Y289F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2044529	NM_014049.5(ACAD9):c.1259G>A (p.Arg420His)	ACAD9 (R297H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1962782	NM_014049.5(ACAD9):c.1262T>C (p.Ile421Thr)	ACAD9 (I421T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3134683	NM_014049.5(ACAD9):c.1276G>A (p.Glu426Lys)	ACAD9 (E303K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2339293	NM_014049.5(ACAD9):c.1312C>A (p.Leu438Met)	ACAD9 (L438M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2407463	NM_014049.5(ACAD9):c.1385C>G (p.Thr462Arg)	ACAD9 (T462R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 991433	NM_014049.5(ACAD9):c.1399G>A (p.Val467Ile)	ACAD9 (V467I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 3134690	NM_014049.5(ACAD9):c.1466T>C (p.Val489Ala)	ACAD9 (V489A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2060424	NM_014049.5(ACAD9):c.1485G>A (p.Ala495=)	ACAD9	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GUncertain significance
Select item 2597273	NM_014049.5(ACAD9):c.1601C>T (p.Ala534Val)	ACAD9, CFAP92 (A411V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1069233	NM_014049.5(ACAD9):c.1641_1659dup (p.Ile554fs)	ACAD9, CFAP92 (I554fs)	Duplication (frameshift variant +2 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2385298	NM_014049.5(ACAD9):c.1643C>T (p.Ser548Leu)	ACAD9, CFAP92 (S548L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 213992	NM_014049.5(ACAD9):c.1666A>G (p.Ile556Val)	ACAD9, CFAP92 (I556V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 213993	NM_014049.5(ACAD9):c.1667T>C (p.Ile556Thr)	ACAD9, CFAP92 (I556T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1149797	NM_014049.5(ACAD9):c.1706A>G (p.Asn569Ser)	ACAD9, CFAP92 (N569S)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1146848	NM_014049.5(ACAD9):c.1717G>A (p.Val573Met)	CFAP92, ACAD9 (V573M)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2537683	NM_014049.5(ACAD9):c.1781T>C (p.Leu594Pro)	ACAD9, CFAP92 (L471P +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2140737	NM_014049.5(ACAD9):c.1826G>A (p.Arg609Gln)	ACAD9, CFAP92 (R486Q +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 242523	NM_014049.5(ACAD9):c.1846C>T (p.Pro616Ser)	ACAD9, CFAP92 (P616S)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 42