Related gene-specific medical variations for Gene (Select 28976) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 301

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366441	NM_014049.5(ACAD9):c.1817T>A (p.Leu606His)	ACAD9, CFAP92 (L483H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3349655	NM_014049.5(ACAD9):c.1564A>G (p.Thr522Ala)	ACAD9, CFAP92 (T399A +1 more)	Single nucleotide variant (missense variant +2 more)	ACAD9-related disorder	GUncertain significance
Select item 3339832	NM_014049.5(ACAD9):c.1676G>A (p.Arg559His)	ACAD9, CFAP92 (R436H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3260748	NM_014049.5(ACAD9):c.1692+185_1692+188del	ACAD9, CFAP92	Microsatellite (intron variant)	Inborn genetic diseases	GLikely benign
Select item 3247012	NC_000003.11:g.(?_128627018)_(128629666_?)dup	ACAD9	Duplication	not provided	GLikely pathogenic
Select item 3247011	NC_000003.11:g.(?_128614133)_(128615399_?)del	ACAD9	Deletion	not provided	GPathogenic
Select item 3247010	NC_000003.11:g.(?_128631330)_(128631450_?)del	ACAD9	Deletion	not provided	GPathogenic
Select item 3247009	NC_000003.11:g.(?_128629574)_(128629666_?)del	ACAD9	Deletion	not provided	GPathogenic
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 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 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 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 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 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 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 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 3234686	NM_014049.5(ACAD9):c.1693-266G>C	ACAD9, CFAP92	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 3026610	NM_014049.5(ACAD9):c.1693-234G>A	ACAD9, CFAP92	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008580	NM_014049.5(ACAD9):c.958+21del	ACAD9, LOC126806807	Deletion (intron variant)	not provided	GLikely benign
Select item 3000390	NM_014049.5(ACAD9):c.1740C>G (p.Leu580=)	ACAD9, CFAP92	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2999938	NM_014049.5(ACAD9):c.1765+14C>T	ACAD9, CFAP92	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999877	NM_014049.5(ACAD9):c.1632_1692+6del	ACAD9, CFAP92	Deletion (3 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 2992343	NM_014049.5(ACAD9):c.1564-16G>T	ACAD9, CFAP92	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2980262	NM_014049.5(ACAD9):c.1765+13T>A	ACAD9, CFAP92	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2918421	NM_014049.5(ACAD9):c.1815C>T (p.Ile605=)	ACAD9, CFAP92	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2916635	NM_014049.5(ACAD9):c.1693-18T>C	ACAD9, CFAP92	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2913319	NM_014049.5(ACAD9):c.883-13G>A	ACAD9, LOC126806807	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2910712	NM_014049.5(ACAD9):c.1693-19C>G	ACAD9, CFAP92	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2909043	NM_014049.5(ACAD9):c.1765+13T>G	ACAD9, CFAP92	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902079	NM_014049.5(ACAD9):c.1803G>C (p.Val601=)	ACAD9, CFAP92	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2894534	NM_014049.5(ACAD9):c.1692+20A>C	ACAD9, CFAP92	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2894472	NM_014049.5(ACAD9):c.1765+11T>G	ACAD9, CFAP92	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2889430	NM_014049.5(ACAD9):c.1833T>C (p.Tyr611=)	ACAD9, CFAP92	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2887360	NM_014049.5(ACAD9):c.1693-6T>C	ACAD9, CFAP92	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2887046	NM_014049.5(ACAD9):c.1564-11T>C	ACAD9, CFAP92	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2884240	NM_014049.5(ACAD9):c.1797G>A (p.Lys599=)	ACAD9, CFAP92	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2882330	NM_014049.5(ACAD9):c.1665C>A (p.Arg555=)	ACAD9, CFAP92	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2868814	NM_014049.5(ACAD9):c.1564-15C>A	CFAP92, ACAD9	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2861618	NM_014049.5(ACAD9):c.1780C>T (p.Leu594=)	ACAD9, CFAP92	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2860886	NM_014049.5(ACAD9):c.1839T>C (p.Cys613=)	ACAD9, CFAP92	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2854012	NM_014049.5(ACAD9):c.1766-15_1766-14del	ACAD9, CFAP92	Deletion (intron variant)	not provided	GLikely benign
Select item 2850171	NM_014049.5(ACAD9):c.900C>T (p.Leu300=)	ACAD9, LOC126806807	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2849590	NM_014049.5(ACAD9):c.946_947del (p.Lys316fs)	ACAD9, LOC126806807 (K193fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2840912	NM_014049.5(ACAD9):c.1632G>T (p.Thr544=)	ACAD9, CFAP92	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2834781	NM_014049.5(ACAD9):c.1692+2T>A	ACAD9, CFAP92	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 2832957	NM_014049.5(ACAD9):c.1698C>G (p.Leu566=)	ACAD9, CFAP92	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2832482	NM_014049.5(ACAD9):c.1766-8C>T	ACAD9, CFAP92	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2808943	NM_014049.5(ACAD9):c.1564-16G>C	ACAD9, CFAP92	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2805852	NM_014049.5(ACAD9):c.1692+11C>T	ACAD9, CFAP92	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2796329	NM_014049.5(ACAD9):c.1665C>T (p.Arg555=)	ACAD9, CFAP92	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2792870	NM_014049.5(ACAD9):c.1740C>T (p.Leu580=)	ACAD9, CFAP92	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2790933	NM_014049.5(ACAD9):c.1765+4_1765+7dup	ACAD9, CFAP92	Duplication (splice donor variant +1 more)	not provided	GLikely benign
Select item 2778701	NM_014049.5(ACAD9):c.1710C>A (p.Thr570=)	ACAD9, CFAP92	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2776163	NM_014049.5(ACAD9):c.1564-12C>T	ACAD9, CFAP92	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2763872	NM_014049.5(ACAD9):c.1765+16T>C	ACAD9, CFAP92	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2759589	NM_014049.5(ACAD9):c.1692+13C>A	ACAD9, CFAP92	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2758942	NM_014049.5(ACAD9):c.958+12dup	ACAD9, LOC126806807	Duplication (intron variant)	not provided	GLikely benign
Select item 2756928	NM_014049.5(ACAD9):c.1845C>T (p.His615=)	ACAD9, CFAP92	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2752396	NM_014049.5(ACAD9):c.1608C>T (p.Ile536=)	ACAD9, CFAP92	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2743993	NM_014049.5(ACAD9):c.903C>T (p.Asn301=)	ACAD9, LOC126806807	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2741071	NM_014049.5(ACAD9):c.958+16A>T	ACAD9, LOC126806807	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2729906	NM_014049.5(ACAD9):c.1692+13C>T	ACAD9, CFAP92	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2724887	NM_014049.5(ACAD9):c.1693-12C>T	ACAD9, CFAP92	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2724704	NM_014049.5(ACAD9):c.1766-20TC[2]	ACAD9, CFAP92	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2711476	NM_014049.5(ACAD9):c.1564-7A>C	ACAD9, CFAP92	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2704684	NM_014049.5(ACAD9):c.909C>A (p.Gly303=)	ACAD9, LOC126806807	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2701673	NM_014049.5(ACAD9):c.1665C>G (p.Arg555=)	ACAD9, CFAP92	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2696920	NM_014049.5(ACAD9):c.1803G>A (p.Val601=)	ACAD9, CFAP92	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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	CFAP92, ACAD9	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 2654113	NM_014049.5(ACAD9):c.1564-51G>A	ACAD9, CFAP92	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign

<< First< Prev

Page of 4