ACAD9[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 148370	GRCh38/hg38 3q21.3(chr3:126797420-128946623)x1	ABTB1, ACAD9 +124 more	Copy number loss	See cases	GPathogenic
Select item 154720	GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1	LOC129937518, LOC129937519 +248 more	Copy number loss	See cases	GLikely pathogenic
Select item 57147	GRCh38/hg38 3q21.3(chr3:128601065-129182579)x3	ACAD9, ACAD9-DT +38 more	Copy number gain	See cases	GUncertain significance
Select item 57792	GRCh38/hg38 3q21.3(chr3:128735053-128967179)x3	ACAD9, ACAD9-DT +9 more	Copy number gain	See cases	GUncertain significance
Select item 665056	NC_000003.11:g.(?_128514201)_(128631967_?)dup	ACAD9, ACAD9-DT +8 more	Duplication	Charcot-Marie-Tooth disease type 2B	GUncertain significance
Select item 1193784	NC_000003.12:g.128879333C>T	ACAD9, ACAD9-DT	Single nucleotide variant	not provided	GLikely benign
Select item 1193289	NC_000003.12:g.128879367C>A	ACAD9, ACAD9-DT	Single nucleotide variant	not provided	GLikely benign
Select item 1251708	NC_000003.12:g.128879388A>C	ACAD9, ACAD9-DT	Single nucleotide variant	not provided	GBenign
Select item 343186	NM_014049.4(ACAD9):c.-168T>C	ACAD9	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
Select item 343187	NM_014049.4(ACAD9):c.-91G>T	ACAD9	Single nucleotide variant	Acyl-CoA dehydrogenase 9 deficiency	GUncertain significance
Select item 343188	NM_014049.5(ACAD9):c.-65GT[6]	ACAD9	Microsatellite (5 prime UTR variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency	GUncertain significance
Select item 343189	NM_014049.5(ACAD9):c.-65GT[4]	ACAD9	Microsatellite (5 prime UTR variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency +1 more	GBenign
Select item 1018	NM_014049.5(ACAD9):c.-44_-41dup	ACAD9	Duplication (5 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 508839	NM_014049.5(ACAD9):c.-11C>T	ACAD9	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3050984	NM_014049.5(ACAD9):c.-10A>T	ACAD9	Single nucleotide variant (5 prime UTR variant +1 more)	ACAD9-related disorder	GLikely benign
Select item 1439431	NM_014049.5(ACAD9):c.1A>T (p.Met1Leu)	ACAD9 (M1L)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 242469	NM_014049.4(ACAD9):c.1A>G	ACAD9 (M1V)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 242468	NM_014049.4:c.2T>G	ACAD9 (M1R)	Single nucleotide variant (missense variant +2 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1451006	NM_014049.5(ACAD9):c.3G>A (p.Met1Ile)	ACAD9 (M1I)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
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 1981809	NM_014049.5(ACAD9):c.4A>G (p.Ser2Gly)	ACAD9 (S2G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2972388	NM_014049.5(ACAD9):c.5G>T (p.Ser2Ile)	ACAD9 (S2I)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2417623	NM_014049.5(ACAD9):c.5G>A (p.Ser2Asn)	ACAD9 (S2N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1095215	NM_014049.5(ACAD9):c.6C>T (p.Ser2=)	ACAD9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 850643	NM_014049.5(ACAD9):c.15_40del (p.Leu6fs)	ACAD9 (L6fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3020178	NM_014049.5(ACAD9):c.9C>T (p.Gly3=)	ACAD9	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 213994	NM_014049.5(ACAD9):c.11G>T (p.Cys4Phe)	ACAD9 (C4F)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1119742	NM_014049.5(ACAD9):c.12C>T (p.Cys4=)	ACAD9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 724465	NM_014049.5(ACAD9):c.15G>T (p.Gly5=)	ACAD9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2101586	NM_014049.5(ACAD9):c.17T>C (p.Leu6Pro)	ACAD9 (L6P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2155456	NM_014049.5(ACAD9):c.18C>T (p.Leu6=)	ACAD9	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1969486	NM_014049.5(ACAD9):c.18C>G (p.Leu6=)	ACAD9	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1162190	NM_014049.5(ACAD9):c.22C>T (p.Leu8=)	ACAD9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1543773	NM_014049.5(ACAD9):c.27C>T (p.Arg9=)	ACAD9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2184475	NM_014049.5(ACAD9):c.29C>T (p.Thr10Ile)	ACAD9 (T10I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2164642	NM_014049.5(ACAD9):c.30C>G (p.Thr10=)	ACAD9	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 392932	NM_014049.5(ACAD9):c.30C>T (p.Thr10=)	ACAD9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2913345	NM_014049.5(ACAD9):c.33G>T (p.Thr11=)	ACAD9	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2738928	NM_014049.5(ACAD9):c.39G>C (p.Ala13=)	ACAD9	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 343190	NM_014049.5(ACAD9):c.41C>T (p.Ala14Val)	ACAD9 (A14V)	Single nucleotide variant (missense variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency	GUncertain significance
Select item 1493882	NM_014049.5(ACAD9):c.43C>T (p.Arg15Cys)	ACAD9 (R15C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 343191	NM_014049.5(ACAD9):c.44G>C (p.Arg15Pro)	ACAD9 (R15P)	Single nucleotide variant (missense variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency	GUncertain significance
Select item 2119784	NM_014049.5(ACAD9):c.45T>C (p.Arg15=)	ACAD9	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2994623	NM_014049.5(ACAD9):c.48C>T (p.Ala16=)	ACAD9	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1584583	NM_014049.5(ACAD9):c.51C>T (p.Cys17=)	ACAD9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2803595	NM_014049.5(ACAD9):c.54G>A (p.Arg18=)	ACAD9	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1628349	NM_014049.5(ACAD9):c.54G>T (p.Arg18=)	ACAD9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 1626674	NM_014049.5(ACAD9):c.66C>G (p.Val22=)	ACAD9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1140194	NM_014049.5(ACAD9):c.69T>C (p.Ser23=)	ACAD9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1896362	NM_014049.5(ACAD9):c.70A>G (p.Thr24Ala)	ACAD9 (T24A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1956533	NM_014049.5(ACAD9):c.72C>T (p.Thr24=)	ACAD9	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1399854	NM_014049.5(ACAD9):c.73G>A (p.Ala25Thr)	ACAD9 (A25T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
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 1093555	NM_014049.5(ACAD9):c.75G>C (p.Ala25=)	ACAD9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2188326	NM_014049.5(ACAD9):c.77A>G (p.Asn26Ser)	ACAD9 (N26S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3012502	NM_014049.5(ACAD9):c.78C>T (p.Asn26=)	ACAD9	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2913957	NM_014049.5(ACAD9):c.79C>A (p.Arg27=)	ACAD9	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2104044	NM_014049.5(ACAD9):c.79C>T (p.Arg27Trp)	ACAD9 (R27W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2917415	NM_014049.5(ACAD9):c.81G>A (p.Arg27=)	ACAD9	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2711060	NM_014049.5(ACAD9):c.84G>T (p.Arg28=)	ACAD9	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2015294	NM_014049.5(ACAD9):c.92_93dup (p.Thr32fs)	ACAD9 (T32fs)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 2125595	NM_014049.5(ACAD9):c.90G>T (p.Leu30=)	ACAD9	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
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 1094818	NM_014049.5(ACAD9):c.93C>T (p.Arg31=)	ACAD9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2200106	NM_014049.5(ACAD9):c.100C>T (p.Pro34Ser)	ACAD9 (P34S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 2839311	NM_014049.5(ACAD9):c.104del (p.Pro35fs)	ACAD9 (P35fs)	Deletion (5 prime UTR variant +2 more)	not provided	GPathogenic
Select item 1130683	NM_014049.5(ACAD9):c.105T>A (p.Pro35=)	ACAD9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1393379	NM_014049.5(ACAD9):c.109C>T (p.Arg37Ter)	ACAD9 (R37*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2845321	NM_014049.5(ACAD9):c.117C>T (p.Phe39=)	ACAD9	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 30881	NM_014049.5(ACAD9):c.130T>A (p.Phe44Ile)	ACAD9 (F44I)	Single nucleotide variant (missense variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency	GPathogenic
Select item 1905941	NM_014049.5(ACAD9):c.138del (p.Ile48fs)	ACAD9 (I48fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
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 380987	NM_014049.5(ACAD9):c.150+8G>A	ACAD9	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GLikely benign
Select item 2108145	NM_014049.5(ACAD9):c.150+10G>C	ACAD9	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2894955	NM_014049.5(ACAD9):c.150+12C>T	ACAD9	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3007645	NM_014049.5(ACAD9):c.150+13C>T	ACAD9	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2895312	NM_014049.5(ACAD9):c.150+17_150+27dup	ACAD9	Duplication (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2740401	NM_014049.5(ACAD9):c.150+18C>T	ACAD9	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3022651	NM_014049.5(ACAD9):c.150+19G>A	ACAD9	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 676723	NM_014049.5(ACAD9):c.150+87C>T	ACAD9	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign/Likely benign
Select item 1199877	NM_014049.5(ACAD9):c.151-250A>C	ACAD9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245938	NM_014049.5(ACAD9):c.151-200T>C	ACAD9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2969368	NM_014049.5(ACAD9):c.151-12T>C	ACAD9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1965434	NM_014049.5(ACAD9):c.151-9T>C	ACAD9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1539023	NM_014049.5(ACAD9):c.151-7T>C	ACAD9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1453047	NC_000003.12:g.128884651AGAA[1]	ACAD9	Microsatellite	not provided	GPathogenic
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 242467	NM_014049.4(ACAD9):c.151-2A>G	ACAD9	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely pathogenic
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 1607940	NM_014049.5(ACAD9):c.162C>T (p.Phe54=)	ACAD9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1092371	NM_014049.5(ACAD9):c.165A>G (p.Pro55=)	ACAD9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1525547	NM_014049.5(ACAD9):c.170C>T (p.Pro57Leu)	ACAD9 (P57L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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