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

Search results

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2679733	NM_014049.5(ACAD9):c.5_30dup (p.Thr11fs)	ACAD9 (T11fs)	Duplication (5 prime UTR variant +2 more)	Acyl-CoA dehydrogenase 9 deficiency	GLikely pathogenic
Select item 214013	NM_014049.5(ACAD9):c.91C>T (p.Arg31Cys)	ACAD9 (R31C)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2679736	NM_014049.5(ACAD9):c.150+1G>T	ACAD9	Single nucleotide variant (non-coding transcript variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency	GLikely pathogenic
Select item 848539	NM_014049.5(ACAD9):c.151-1_151del	ACAD9	Deletion (splice acceptor variant)	Mitochondrial complex I deficiency +2 more	GLikely pathogenic
Select item 1033254	NM_014049.5(ACAD9):c.184dup (p.Asp62fs)	ACAD9 (D62fs)	Duplication (frameshift variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1407949	NM_014049.5(ACAD9):c.205C>T (p.Gln69Ter)	ACAD9 (Q69*)	Single nucleotide variant (nonsense +1 more)	Acyl-CoA dehydrogenase 9 deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2679718	NM_014049.5(ACAD9):c.209del (p.Phe70fs)	ACAD9 (F70fs)	Deletion (frameshift variant +2 more)	Acyl-CoA dehydrogenase 9 deficiency	GLikely pathogenic
Select item 3240558	NM_014049.5(ACAD9):c.215del (p.Gly72fs)	ACAD9 (G72fs)	Deletion (frameshift variant +2 more)	Acyl-CoA dehydrogenase 9 deficiency	GLikely pathogenic
Select item 1031234	NM_014049.5(ACAD9):c.220G>A (p.Val74Met)	ACAD9 (V74M)	Single nucleotide variant (missense variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency +2 more	GUncertain significance
Select item 1075114	NM_014049.5(ACAD9):c.253C>T (p.Arg85Ter)	ACAD9 (R85*)	Single nucleotide variant (nonsense +1 more)	Acyl-CoA dehydrogenase 9 deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2679715	NM_014049.5(ACAD9):c.326del (p.Leu109fs)	ACAD9 (L109fs)	Deletion (5 prime UTR variant +2 more)	Acyl-CoA dehydrogenase 9 deficiency	GLikely pathogenic
Select item 1415957	NM_014049.5(ACAD9):c.340G>T (p.Glu114Ter)	ACAD9 (E114*)	Single nucleotide variant (nonsense +1 more)	Acyl-CoA dehydrogenase 9 deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2679698	NM_014049.5(ACAD9):c.345T>A (p.Tyr115Ter)	ACAD9 (Y115*)	Single nucleotide variant (5 prime UTR variant +2 more)	Acyl-CoA dehydrogenase 9 deficiency	GLikely pathogenic
Select item 2679708	NM_014049.5(ACAD9):c.346+1G>A	ACAD9	Single nucleotide variant (splice donor variant)	Acyl-CoA dehydrogenase 9 deficiency	GLikely pathogenic
Select item 2679731	NM_014049.5(ACAD9):c.347-1G>T	ACAD9	Single nucleotide variant (splice acceptor variant)	Acyl-CoA dehydrogenase 9 deficiency	GLikely pathogenic
Select item 2679717	NM_014049.5(ACAD9):c.347-1G>A	ACAD9	Single nucleotide variant (splice acceptor variant)	Acyl-CoA dehydrogenase 9 deficiency	GLikely pathogenic
Select item 242524	NM_014049.5(ACAD9):c.359del (p.Phe120fs)	ACAD9 (F120fs)	Deletion (frameshift variant +1 more)	Mitochondrial complex I deficiency +2 more	GPathogenic/Likely pathogenic
Select item 2679688	NM_014049.5(ACAD9):c.379A>T (p.Arg127Ter)	ACAD9 (R127* +1 more)	Single nucleotide variant (nonsense +1 more)	Acyl-CoA dehydrogenase 9 deficiency	GLikely pathogenic
Select item 2090521	NM_014049.5(ACAD9):c.453+1G>A	ACAD9	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 631903	NM_014049.5(ACAD9):c.453+2T>A	ACAD9	Single nucleotide variant (splice donor variant)	Acyl-CoA dehydrogenase 9 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2679739	NM_014049.5(ACAD9):c.454-1G>T	ACAD9	Single nucleotide variant (splice acceptor variant)	Acyl-CoA dehydrogenase 9 deficiency	GLikely pathogenic
Select item 2679686	NM_014049.5(ACAD9):c.477_495del (p.Glu159fs)	ACAD9 (E159fs +1 more)	Deletion (frameshift variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency	GLikely pathogenic
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 1352447	NM_014049.5(ACAD9):c.497_501del (p.Tyr165_Leu166insTer)	ACAD9	Deletion (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 379494	NM_014049.5(ACAD9):c.662A>G (p.Asn221Ser)	ACAD9 (N221S)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2679694	NM_014049.5(ACAD9):c.671_672del (p.Thr224fs)	ACAD9 (T101fs +1 more)	Deletion (frameshift variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency	GLikely pathogenic
Select item 2679679	NM_014049.5(ACAD9):c.719_721delinsCC (p.Asp240fs)	ACAD9 (D117fs +1 more)	Indel (frameshift variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency	GLikely pathogenic
Select item 242466	NM_014049.5(ACAD9):c.796C>T (p.Arg266Trp)	ACAD9 (R266W)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 30882	NM_014049.5(ACAD9):c.797G>A (p.Arg266Gln)	ACAD9 (R266Q)	Single nucleotide variant (missense variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2679742	NM_014049.5(ACAD9):c.809-1G>A	ACAD9	Single nucleotide variant (splice acceptor variant)	Acyl-CoA dehydrogenase 9 deficiency	GLikely pathogenic
Select item 1394209	NM_014049.5(ACAD9):c.825del (p.Phe275fs)	ACAD9 (F275fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1454700	NM_014049.5(ACAD9):c.868G>A (p.Gly290Arg)	ACAD9 (G290R)	Single nucleotide variant (missense variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1067512	NM_014049.5(ACAD9):c.882+1G>A	ACAD9	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 1456169	NM_014049.5(ACAD9):c.957del (p.Ile319fs)	ACAD9, LOC126806807 (I319fs)	Deletion (frameshift variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2679729	NM_014049.5(ACAD9):c.958+2T>C	ACAD9, LOC126806807	Single nucleotide variant (splice donor variant)	Acyl-CoA dehydrogenase 9 deficiency	GLikely pathogenic
Select item 1074141	NM_014049.5(ACAD9):c.970dup (p.Glu324fs)	ACAD9 (E324fs)	Duplication (frameshift variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1033255	NM_014049.5(ACAD9):c.976G>T (p.Ala326Ser)	ACAD9 (A326S)	Single nucleotide variant (missense variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency	GUncertain significance
Select item 30883	NM_014049.5(ACAD9):c.976G>C (p.Ala326Pro)	ACAD9 (A326P)	Single nucleotide variant (missense variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency +2 more	GPathogenic/Likely pathogenic
Select item 2679734	NM_014049.5(ACAD9):c.1012_1015del (p.Glu338fs)	ACAD9 (E215fs +1 more)	Deletion (frameshift variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency	GLikely pathogenic
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 3240658	NM_014049.5(ACAD9):c.1030-2A>T	ACAD9	Single nucleotide variant (splice acceptor variant)	Acyl-CoA dehydrogenase 9 deficiency	GLikely pathogenic
Select item 242464	NM_014049.5(ACAD9):c.1030-1G>T	ACAD9	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1469383	NM_014049.5(ACAD9):c.1150-2A>G	ACAD9	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 1253828	NM_014049.5(ACAD9):c.1168G>A (p.Ala390Thr)	ACAD9 (A390T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2679728	NM_014049.5(ACAD9):c.1195C>T (p.Gln399Ter)	ACAD9 (Q276* +1 more)	Single nucleotide variant (nonsense +1 more)	Acyl-CoA dehydrogenase 9 deficiency	GLikely pathogenic
Select item 242463	NM_014049.5(ACAD9):c.1237G>A (p.Glu413Lys)	ACAD9 (E413K)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency +2 more	GPathogenic/Likely pathogenic
Select item 1451120	NM_014049.5(ACAD9):c.1240C>A (p.Arg414Ser)	ACAD9 (R414S)	Single nucleotide variant (missense variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency +2 more	GPathogenic/Likely pathogenic
Select item 420048	NM_014049.5(ACAD9):c.1240C>T (p.Arg414Cys)	ACAD9 (R414C)	Single nucleotide variant (missense variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2679703	NM_014049.5(ACAD9):c.1245dup (p.Leu416fs)	ACAD9 (L293fs +1 more)	Duplication (frameshift variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency	GLikely pathogenic
Select item 30880	NM_014049.5(ACAD9):c.1249C>T (p.Arg417Cys)	ACAD9 (R417C)	Single nucleotide variant (missense variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency +2 more	GPathogenic/Likely pathogenic
Select item 1345064	NM_014049.5(ACAD9):c.1278+1G>T	ACAD9	Single nucleotide variant (splice donor variant)	Acyl-CoA dehydrogenase 9 deficiency +1 more	GLikely pathogenic
Select item 1031232	NM_014049.5(ACAD9):c.1278+1G>A	ACAD9	Single nucleotide variant (splice donor variant)	Acyl-CoA dehydrogenase 9 deficiency	GPathogenic
Select item 2050551	NM_014049.5(ACAD9):c.1279-2A>C	ACAD9	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 1430768	NM_014049.5(ACAD9):c.1288_1291dup (p.Ile431fs)	ACAD9 (I431fs)	Microsatellite (frameshift variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2679745	NM_014049.5(ACAD9):c.1293del (p.Leu432fs)	ACAD9 (L309fs +1 more)	Deletion (frameshift variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency	GLikely pathogenic
Select item 242462	NM_014049.5(ACAD9):c.1298G>A (p.Arg433Gln)	ACAD9 (R433Q)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2679696	NM_014049.5(ACAD9):c.1312_1313del (p.Leu438fs)	ACAD9 (L315fs +1 more)	Deletion (frameshift variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency	GLikely pathogenic
Select item 1031233	NM_014049.5(ACAD9):c.1312C>G (p.Leu438Val)	ACAD9 (L438V)	Single nucleotide variant (missense variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency	GUncertain significance
Select item 3240298	NM_014049.5(ACAD9):c.1319del (p.Gly440fs)	ACAD9 (G317fs +1 more)	Deletion (frameshift variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency	GLikely pathogenic
Select item 2679665	NM_014049.5(ACAD9):c.1344_1347del (p.Thr449fs)	ACAD9 (T326fs +1 more)	Deletion (frameshift variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency	GLikely pathogenic
Select item 1473184	NM_014049.5(ACAD9):c.1358+2T>G	ACAD9	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 2679670	NM_014049.5(ACAD9):c.1359-104_1387del	ACAD9	Deletion (splice acceptor variant)	Acyl-CoA dehydrogenase 9 deficiency	GLikely pathogenic
Select item 952504	NM_014049.5(ACAD9):c.1359-45_1383del	ACAD9	Deletion (splice acceptor variant)	Acyl-CoA dehydrogenase 9 deficiency +1 more	GLikely pathogenic
Select item 2910174	NM_014049.5(ACAD9):c.1359-1G>A	ACAD9	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 2182872	NM_014049.5(ACAD9):c.1385_1386del (p.Thr462fs)	ACAD9 (T462fs)	Microsatellite (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3240674	NM_014049.5(ACAD9):c.1386del (p.Val463fs)	ACAD9 (V340fs +1 more)	Deletion (frameshift variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency	GLikely pathogenic
Select item 2679689	NM_014049.5(ACAD9):c.1397_1398dup (p.Val467fs)	ACAD9 (V344fs +1 more)	Duplication (frameshift variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency	GLikely pathogenic
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 2679664	NM_014049.5(ACAD9):c.1423del (p.Leu475fs)	ACAD9 (L352fs +1 more)	Deletion (frameshift variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency	GLikely pathogenic
Select item 864413	NM_014049.5(ACAD9):c.1429C>T (p.Arg477Ter)	ACAD9 (R477*)	Single nucleotide variant (nonsense +1 more)	Acyl-CoA dehydrogenase 9 deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1070934	NM_014049.5(ACAD9):c.1462G>T (p.Gly488Ter)	ACAD9 (G488*)	Single nucleotide variant (nonsense +1 more)	Acyl-CoA dehydrogenase 9 deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2679691	NM_014049.5(ACAD9):c.1477dup (p.Ser493fs)	ACAD9 (S370fs +1 more)	Duplication (frameshift variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency	GLikely pathogenic
Select item 2679697	NM_014049.5(ACAD9):c.1481_1482dup (p.Ala495fs)	ACAD9 (A372fs +1 more)	Duplication (frameshift variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency	GLikely pathogenic
Select item 2679713	NM_014049.5(ACAD9):c.1486-2A>G	ACAD9	Single nucleotide variant (splice acceptor variant)	Acyl-CoA dehydrogenase 9 deficiency	GLikely pathogenic
Select item 3240695	NM_014049.5(ACAD9):c.1492_1501del (p.Ala498fs)	ACAD9 (A375fs +1 more)	Deletion (frameshift variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency	GLikely pathogenic
Select item 242461	NM_014049.5(ACAD9):c.1552C>T (p.Arg518Cys)	ACAD9 (R518C)	Single nucleotide variant (missense variant +1 more)	ACAD9-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 858760	NM_014049.5(ACAD9):c.1553G>A (p.Arg518His)	ACAD9 (R518H)	Single nucleotide variant (missense variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency +1 more	GPathogenic/Likely pathogenic
Select item 840179	NM_014049.5(ACAD9):c.1563+1G>A	ACAD9	Single nucleotide variant (splice donor variant)	Acyl-CoA dehydrogenase 9 deficiency +1 more	GLikely pathogenic
Select item 30884	NM_014049.5(ACAD9):c.1594C>T (p.Arg532Trp)	ACAD9, CFAP92 (R532W +1 more)	Single nucleotide variant (missense variant +2 more)	Acyl-CoA dehydrogenase 9 deficiency +2 more	GPathogenic/Likely pathogenic
Select item 2679725	NM_014049.5(ACAD9):c.1597del (p.Val533fs)	ACAD9, CFAP92 (V410fs +1 more)	Deletion (frameshift variant +2 more)	Acyl-CoA dehydrogenase 9 deficiency	GLikely pathogenic
Select item 242459	NM_014049.5(ACAD9):c.1595G>A (p.Arg532Gln)	ACAD9, CFAP92 (R532Q +1 more)	Single nucleotide variant (missense variant +2 more)	Acyl-CoA dehydrogenase 9 deficiency +1 more	GLikely pathogenic
Select item 1069233	NM_014049.5(ACAD9):c.1641_1659dup (p.Ile554fs)	ACAD9, CFAP92 (I554fs +1 more)	Duplication (frameshift variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1520012	NM_014049.5(ACAD9):c.1646G>A (p.Arg549Gln)	ACAD9, CFAP92 (R549Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1479693	NM_014049.5(ACAD9):c.1674_1692+34del	ACAD9, CFAP92	Deletion (3 prime UTR variant +1 more)	Mitochondrial complex I deficiency +2 more	GLikely pathogenic
Select item 3240684	NM_014049.5(ACAD9):c.1690G>A (p.Glu564Lys)	ACAD9, CFAP92 (E441K +1 more)	Single nucleotide variant (missense variant +2 more)	Acyl-CoA dehydrogenase 9 deficiency	GLikely pathogenic
Select item 1932297	NM_014049.5(ACAD9):c.1692+1G>A	ACAD9, CFAP92	Single nucleotide variant (3 prime UTR variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency +1 more	GLikely pathogenic
Select item 2679699	NM_014049.5(ACAD9):c.1752_1753del (p.Gln585fs)	ACAD9, CFAP92 (Q462fs +1 more)	Microsatellite (frameshift variant +2 more)	Acyl-CoA dehydrogenase 9 deficiency	GLikely pathogenic
Select item 1909455	NM_014049.5(ACAD9):c.1750_1753del (p.Gln585fs)	ACAD9, CFAP92 (Q585fs +1 more)	Microsatellite (frameshift variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2679724	NM_014049.5(ACAD9):c.1765+2T>A	CFAP92, ACAD9	Single nucleotide variant (splice donor variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 618501	NM_014049.5(ACAD9):c.1798_1801del (p.Lys600fs)	ACAD9, CFAP92 (K600fs +1 more)	Deletion (frameshift variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3240617	NM_014049.5(ACAD9):c.1799_1800del (p.Lys600fs)	ACAD9, CFAP92 (K477fs +1 more)	Deletion (frameshift variant +2 more)	Acyl-CoA dehydrogenase 9 deficiency	GLikely pathogenic
Select item 3240432	NM_014049.5(ACAD9):c.1803_1804del (p.Ser602fs)	ACAD9, CFAP92 (S479fs +1 more)	Microsatellite (frameshift variant +2 more)	Acyl-CoA dehydrogenase 9 deficiency	GLikely pathogenic
Select item 1988383	NM_014049.5(ACAD9):c.1806_1816dup (p.Leu606fs)	ACAD9, CFAP92 (L606fs +1 more)	Duplication (frameshift variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 453125	NM_014049.5(ACAD9):c.1825C>T (p.Arg609Ter)	ACAD9, CFAP92 (R609* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 390412	NM_014049.5(ACAD9):c.1832A>G (p.Tyr611Cys)	ACAD9, CFAP92 (Y611C +1 more)	Single nucleotide variant (missense variant +2 more)	Acyl-CoA dehydrogenase 9 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 242523	NM_014049.5(ACAD9):c.1846C>T (p.Pro616Ser)	ACAD9, CFAP92 (P616S +1 more)	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: 96