ClinVar for MedGen (Select 1648400) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064941	NM_014049.5(ACAD9):c.524T>C (p.Ile175Thr)	ACAD9 (I175T +1 more)	Single nucleotide variant (missense variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency	GUncertain significance
Select item 2690504	NM_014049.5(ACAD9):c.293T>C (p.Leu98Ser)	ACAD9 (L98S)	Single nucleotide variant (5 prime UTR variant +2 more)	Acyl-CoA dehydrogenase 9 deficiency	GLikely 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 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 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 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 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 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 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 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 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 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 2679724	NM_014049.5(ACAD9):c.1765+2T>A	ACAD9, CFAP92	Single nucleotide variant (splice donor variant +1 more)	not provided +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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2679670	NM_014049.5(ACAD9):c.1359-104_1387del	ACAD9	Deletion (splice acceptor variant)	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 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 2500783	NM_014049.5(ACAD9):c.1376_1381delinsCCT (p.Lys459_Ser461delinsThrCys)	ACAD9	Indel (inframe_indel +1 more)	Acyl-CoA dehydrogenase 9 deficiency	GLikely pathogenic
Select item 2500742	NM_014049.5(ACAD9):c.1185_1188del (p.Ser395fs)	ACAD9 (S272fs +1 more)	Microsatellite (frameshift variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency	GPathogenic
Select item 2500741	NM_014049.5(ACAD9):c.1169C>T (p.Ala390Val)	ACAD9 (A267V +1 more)	Single nucleotide variant (missense variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency	GLikely pathogenic
Select item 2438802	NM_014049.5(ACAD9):c.1037T>G (p.Phe346Cys)	ACAD9 (F223C +1 more)	Single nucleotide variant (missense variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency	GUncertain significance
Select item 2438801	NM_014049.5(ACAD9):c.244+3A>G	ACAD9	Single nucleotide variant (intron variant)	Acyl-CoA dehydrogenase 9 deficiency	GUncertain significance
Select item 2438800	NM_014049.5(ACAD9):c.1429C>G (p.Arg477Gly)	ACAD9 (R354G +1 more)	Single nucleotide variant (missense variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency	GUncertain significance
Select item 2438799	NM_014049.5(ACAD9):c.793A>G (p.Ile265Val)	ACAD9 (I142V +1 more)	Single nucleotide variant (missense variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency	GUncertain significance
Select item 2438798	NM_014049.5(ACAD9):c.55G>T (p.Gly19Cys)	ACAD9 (G19C)	Single nucleotide variant (missense variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency	GUncertain significance
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 2160733	NM_014049.5(ACAD9):c.1636G>A (p.Val546Met)	ACAD9, CFAP92 (V423M +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2090521	NM_014049.5(ACAD9):c.453+1G>A	ACAD9	Single nucleotide variant (splice donor variant)	Acyl-CoA dehydrogenase 9 deficiency +1 more	GLikely pathogenic
Select item 2050551	NM_014049.5(ACAD9):c.1279-2A>C	ACAD9	Single nucleotide variant (splice acceptor variant)	Acyl-CoA dehydrogenase 9 deficiency +1 more	GLikely pathogenic
Select item 1988383	NM_014049.5(ACAD9):c.1806_1816dup (p.Leu606fs)	ACAD9, CFAP92 (L606fs)	Duplication (non-coding transcript variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1932297	NM_014049.5(ACAD9):c.1692+1G>A	ACAD9, CFAP92	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 1915887	NM_014049.5(ACAD9):c.1162G>A (p.Glu388Lys)	ACAD9 (E265K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1802993	NM_014049.5(ACAD9):c.1693-1G>A	ACAD9, CFAP92	Single nucleotide variant (splice acceptor variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency	GLikely 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 1520012	NM_014049.5(ACAD9):c.1646G>A (p.Arg549Gln)	ACAD9, CFAP92 (R549Q)	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 1469383	NM_014049.5(ACAD9):c.1150-2A>G	ACAD9	Single nucleotide variant (splice acceptor 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 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 1430768	NM_014049.5(ACAD9):c.1288_1291dup (p.Ile431fs)	ACAD9 (I431fs)	Microsatellite (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1415957	NM_014049.5(ACAD9):c.340G>T (p.Glu114Ter)	ACAD9 (E114*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1407949	NM_014049.5(ACAD9):c.205C>T (p.Gln69Ter)	ACAD9 (Q69*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic/Likely 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 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 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 1323840	NM_014049.5(ACAD9):c.754delinsAA (p.Gly252fs)	ACAD9 (G252fs)	Indel (frameshift variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency	GLikely pathogenic
Select item 1253828	NM_014049.5(ACAD9):c.1168G>A (p.Ala390Thr)	ACAD9 (A390T)	Single nucleotide variant (missense variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1197496	NM_014049.5(ACAD9):c.1634C>G (p.Ala545Gly)	ACAD9, CFAP92 (A545G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1195909	NM_014049.5(ACAD9):c.1366A>G (p.Lys456Glu)	ACAD9 (K456E)	Single nucleotide variant (missense variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency	GUncertain significance
Select item 1188991	NM_014049.5(ACAD9):c.1359-63T>C	ACAD9	Single nucleotide variant (intron variant)	Acyl-CoA dehydrogenase 9 deficiency +1 more	GBenign
Select item 1188990	NM_014049.5(ACAD9):c.1279-76T>C	ACAD9	Single nucleotide variant (intron variant)	Acyl-CoA dehydrogenase 9 deficiency +1 more	GBenign
Select item 1185201	NM_014049.5(ACAD9):c.1150-84T>G	ACAD9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185200	NM_014049.5(ACAD9):c.555-116C>G	ACAD9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1156921	NM_014049.5(ACAD9):c.102G>T (p.Pro34=)	ACAD9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1137701	NM_014049.5(ACAD9):c.254G>A (p.Arg85Gln)	ACAD9 (R85Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1135362	NM_014049.5(ACAD9):c.75G>T (p.Ala25=)	ACAD9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1134087	NM_014049.5(ACAD9):c.694G>A (p.Val232Ile)	ACAD9 (V232I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1112475	NM_014049.5(ACAD9):c.1020A>G (p.Gly340=)	ACAD9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1089124	NM_014049.5(ACAD9):c.1801G>A (p.Val601Met)	ACAD9, CFAP92 (V601M)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1075114	NM_014049.5(ACAD9):c.253C>T (p.Arg85Ter)	ACAD9 (R85*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1074141	NM_014049.5(ACAD9):c.970dup (p.Glu324fs)	ACAD9 (E324fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1069233	NM_014049.5(ACAD9):c.1641_1659dup (p.Ile554fs)	ACAD9, CFAP92 (I554fs)	Duplication (frameshift variant +2 more)	Acyl-CoA dehydrogenase 9 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 1067512	NM_014049.5(ACAD9):c.882+1G>A	ACAD9	Single nucleotide variant (splice donor variant)	Acyl-CoA dehydrogenase 9 deficiency +1 more	GLikely 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 1033254	NM_014049.5(ACAD9):c.184dup (p.Asp62fs)	ACAD9 (D62fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 1031235	NM_014049.5(ACAD9):c.479A>C (p.Glu160Ala)	ACAD9 (E160A)	Single nucleotide variant (missense variant +1 more)	ACAD9-related condition +3 more	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 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 1031232	NM_014049.5(ACAD9):c.1278+1G>A	ACAD9	Single nucleotide variant (splice donor variant)	Acyl-CoA dehydrogenase 9 deficiency	GPathogenic
Select item 991434	NM_014049.5(ACAD9):c.1684G>A (p.Asp562Asn)	ACAD9, CFAP92 (D562N)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 991433	NM_014049.5(ACAD9):c.1399G>A (p.Val467Ile)	ACAD9 (V467I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 991432	NM_014049.5(ACAD9):c.755G>A (p.Gly252Asp)	ACAD9 (G252D)	Single nucleotide variant (missense variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency	GUncertain significance
Select item 991431	NM_014049.5(ACAD9):c.388G>A (p.Glu130Lys)	ACAD9 (E130K)	Single nucleotide variant (missense variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency	GUncertain significance
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 903614	NM_014049.5(ACAD9):c.366C>T (p.Asn122=)	ACAD9	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 903613	NM_014049.5(ACAD9):c.284A>C (p.Asp95Ala)	ACAD9 (D95A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 903612	NM_014049.5(ACAD9):c.106G>C (p.Val36Leu)	ACAD9 (V36L)	Single nucleotide variant (missense variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency	GUncertain significance
Select item 902643	NM_014049.5(ACAD9):c.1330G>A (p.Ala444Thr)	ACAD9 (A444T)	Single nucleotide variant (missense variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency	GUncertain significance
Select item 901793	NM_001394090.1(CFAP92):c.3280+2013C>T	ACAD9, CFAP92	Single nucleotide variant (3 prime UTR variant +2 more)	Acyl-CoA dehydrogenase 9 deficiency	GUncertain significance
Select item 901792	NM_001394090.1(CFAP92):c.3280+2171G>A	ACAD9, CFAP92	Single nucleotide variant (3 prime UTR variant +2 more)	Acyl-CoA dehydrogenase 9 deficiency	GUncertain significance
Select item 901735	NM_014049.5(ACAD9):c.1191G>A (p.Ala397=)	ACAD9	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 901734	NM_014049.5(ACAD9):c.1150-5C>T	ACAD9	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 901733	NM_014049.5(ACAD9):c.1063G>A (p.Val355Ile)	ACAD9 (V355I)	Single nucleotide variant (missense variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency	GUncertain significance

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