ClinVar for Gene (Select 28976) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366723	NM_014049.5(ACAD9):c.737T>C (p.Ile246Thr)	ACAD9 (I123T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3363920	NM_014049.5(ACAD9):c.1071G>C (p.Glu357Asp)	ACAD9 (E234D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 3339771	NM_014049.5(ACAD9):c.1283C>T (p.Thr428Ile)	ACAD9 (T428I)	Single nucleotide variant (missense variant +1 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 3260728	NM_014049.5(ACAD9):c.431C>T (p.Ala144Val)	ACAD9 (A21V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3260719	NM_014049.5(ACAD9):c.1232C>T (p.Pro411Leu)	ACAD9 (P411L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3255109	NM_014049.5(ACAD9):c.658G>C (p.Ala220Pro)	ACAD9 (A220P +1 more)	Single nucleotide variant (missense variant +1 more)	Acyl-CoA dehydrogenase 9 deficiency	GUncertain significance
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 3233881	NM_014049.5(ACAD9):c.1204G>A (p.Gly402Arg)	ACAD9 (G279R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 3062709	GRCh37/hg19 3q21.3(chr3:128471823-128710382)x3	ACAD9, CFAP92 +1 more	Copy number gain	not specified	GUncertain significance
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 3036928	NM_014049.5(ACAD9):c.1203C>G (p.Leu401=)	ACAD9	Single nucleotide variant (synonymous variant +1 more)	ACAD9-related disorder	GLikely benign
Select item 3036000	NM_014049.5(ACAD9):c.634-9T>C	ACAD9	Single nucleotide variant (intron variant)	ACAD9-related disorder	GLikely benign
Select item 3026692	NM_014049.5(ACAD9):c.423C>T (p.Thr141=)	ACAD9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3026610	NM_014049.5(ACAD9):c.1693-234G>A	ACAD9, CFAP92	Single nucleotide variant (intron variant)	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 3021913	NM_014049.5(ACAD9):c.1416G>A (p.Arg472=)	ACAD9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 3018660	NM_014049.5(ACAD9):c.1358+13G>A	ACAD9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3018586	NM_014049.5(ACAD9):c.399C>T (p.Ser133=)	ACAD9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3017990	NM_014049.5(ACAD9):c.1150-10C>T	ACAD9	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 3009530	NM_014049.5(ACAD9):c.1563+12C>T	ACAD9	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 3008067	NM_014049.5(ACAD9):c.1279-10dup	ACAD9	Duplication (intron variant)	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 3002275	NM_014049.5(ACAD9):c.245-10C>G	ACAD9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002218	NM_014049.5(ACAD9):c.207G>A (p.Gln69=)	ACAD9	Single nucleotide variant (synonymous variant +2 more)	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 2999467	NM_014049.5(ACAD9):c.1486-19G>A	ACAD9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996403	NM_014049.5(ACAD9):c.633+17A>G	ACAD9	Single nucleotide variant (intron variant)	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 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 2991957	NM_014049.5(ACAD9):c.1278+19A>G	ACAD9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990798	NM_014049.5(ACAD9):c.808+12C>T	ACAD9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990386	NM_014049.5(ACAD9):c.1030-8C>T	ACAD9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990319	NM_014049.5(ACAD9):c.1485+8_1485+11del	ACAD9	Deletion (intron variant)	not provided	GLikely benign
Select item 2989239	NM_014049.5(ACAD9):c.276A>G (p.Lys92=)	ACAD9	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2988588	NM_014049.5(ACAD9):c.1320T>A (p.Gly440=)	ACAD9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2987339	NM_014049.5(ACAD9):c.1279-17T>C	ACAD9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986771	NM_014049.5(ACAD9):c.570C>T (p.Ala190=)	ACAD9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2984096	NM_014049.5(ACAD9):c.633+16C>T	ACAD9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981345	NM_014049.5(ACAD9):c.808+10T>C	ACAD9	Single nucleotide variant (intron variant)	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 2978726	NM_014049.5(ACAD9):c.795T>C (p.Ile265=)	ACAD9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2969368	NM_014049.5(ACAD9):c.151-12T>C	ACAD9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967160	NM_014049.5(ACAD9):c.735C>T (p.Phe245=)	ACAD9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2965134	NM_014049.5(ACAD9):c.245-11C>T	ACAD9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959115	NM_014049.5(ACAD9):c.1212G>A (p.Leu404=)	ACAD9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2956988	NM_014049.5(ACAD9):c.753T>C (p.Phe251=)	ACAD9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2956630	NM_014049.5(ACAD9):c.959-14_959-13del	ACAD9	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2919985	NM_014049.5(ACAD9):c.454-11G>A	ACAD9	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 2918247	NM_014049.5(ACAD9):c.279C>T (p.Ile93=)	ACAD9	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
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 2917099	NM_014049.5(ACAD9):c.543G>A (p.Thr181=)	ACAD9	Single nucleotide variant (synonymous variant +1 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 2916525	NM_014049.5(ACAD9):c.959-11C>T	ACAD9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2915841	NM_014049.5(ACAD9):c.1030-14dup	ACAD9	Duplication (intron variant)	not provided	GBenign
Select item 2915532	NM_014049.5(ACAD9):c.1358+19G>A	ACAD9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2915445	NM_014049.5(ACAD9):c.1563+15C>G	ACAD9	Single nucleotide variant (intron variant)	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 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 2913319	NM_014049.5(ACAD9):c.883-13G>A	ACAD9, LOC126806807	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2910858	NM_014049.5(ACAD9):c.634-13T>C	ACAD9	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 2910174	NM_014049.5(ACAD9):c.1359-1G>A	ACAD9	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 2909043	NM_014049.5(ACAD9):c.1765+13T>G	ACAD9, CFAP92	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2908164	NM_014049.5(ACAD9):c.633+12del	ACAD9	Deletion (intron variant)	not provided	GLikely benign
Select item 2907993	NM_014049.5(ACAD9):c.959-15T>A	ACAD9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2903158	NM_014049.5(ACAD9):c.347-19G>A	ACAD9	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 2895615	NM_014049.5(ACAD9):c.1359-19G>A	ACAD9	Single nucleotide variant (intron variant)	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 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 2894802	NM_014049.5(ACAD9):c.1150-14G>A	ACAD9	Single nucleotide variant (intron variant)	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 2891779	NM_014049.5(ACAD9):c.843T>C (p.Pro281=)	ACAD9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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