ClinVar for Gene (Select 37) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065420	NM_000018.4(ACADVL):c.1876T>C (p.Trp626Arg)	ACADVL (W550R +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 3063511	GRCh37/hg19 17p13.1(chr17:7002380-7469251)x1	PHF23, PLSCR3 +32 more	Copy number loss	not specified	GPathogenic
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3059602	NM_001270447.2(ACADVL):c.132-277G>A	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +2 more)	ACADVL-related condition	GLikely benign
Select item 3045590	NM_000018.4(ACADVL):c.445G>A (p.Glu149Lys)	ACADVL (E127K +3 more)	Single nucleotide variant (missense variant)	ACADVL-related condition	GUncertain significance
Select item 3041799	NM_000018.4(ACADVL):c.383T>A (p.Val128Glu)	ACADVL (V106E +3 more)	Single nucleotide variant (missense variant)	ACADVL-related condition	GUncertain significance
Select item 3032516	NM_000018.4(ACADVL):c.1715C>T (p.Ala572Val)	ACADVL (A496V +3 more)	Single nucleotide variant (missense variant)	ACADVL-related condition	GUncertain significance
Select item 3023088	NM_000018.4(ACADVL):c.1605+20G>A	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3023062	NM_000018.4(ACADVL):c.675A>T (p.Ala225=)	ACADVL	Single nucleotide variant (synonymous variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3021407	NM_000018.4(ACADVL):c.126G>T (p.Gly42=)	ACADVL, LOC130060113	Single nucleotide variant (synonymous variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3021289	NM_000018.4(ACADVL):c.665G>C (p.Gly222Ala)	ACADVL (G146A +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3020138	NM_000018.4(ACADVL):c.1333-20T>C	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3016559	NM_000018.4(ACADVL):c.1348C>T (p.Arg450Cys)	ACADVL (R374C +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3016302	NM_000018.4(ACADVL):c.1224C>A (p.Ala408=)	ACADVL	Single nucleotide variant (synonymous variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3015071	NM_000018.4(ACADVL):c.1533-4T>C	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3015051	NM_000018.4(ACADVL):c.948G>A (p.Arg316=)	ACADVL	Single nucleotide variant (synonymous variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3015017	NM_000018.4(ACADVL):c.1679-10T>C	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3013746	NM_000018.4(ACADVL):c.204+11C>A	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3009876	NM_000018.4(ACADVL):c.514C>T (p.Leu172Phe)	ACADVL (L96F +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3009722	NM_000018.4(ACADVL):c.477+2T>G	ACADVL	Single nucleotide variant (splice donor variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3007085	NM_000018.4(ACADVL):c.1678+14A>G	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3005127	NM_000018.4(ACADVL):c.878+11T>G	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3004166	NM_000018.4(ACADVL):c.965T>C (p.Val322Ala)	ACADVL (V345A +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 3002821	NM_000018.4(ACADVL):c.716_717del (p.Lys239fs)	ACADVL (K217fs +3 more)	Deletion (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 3002658	NM_000018.4(ACADVL):c.1435-4del	ACADVL	Deletion (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2997771	NM_000018.4(ACADVL):c.1751+12G>C	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2995961	NM_000018.4(ACADVL):c.1078-18G>A	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2995643	NM_000018.4(ACADVL):c.51C>G (p.Leu17=)	ACADVL, DLG4	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2991882	NM_000018.4(ACADVL):c.623-11C>T	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2991691	NM_000018.4(ACADVL):c.1332+11G>T	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2990379	NM_000018.4(ACADVL):c.1606-17T>C	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2989238	NM_000018.4(ACADVL):c.1080A>G (p.Val360=)	ACADVL	Single nucleotide variant (synonymous variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2986823	NM_000018.4(ACADVL):c.1332+2T>C	ACADVL	Single nucleotide variant (splice donor variant)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 2985018	NM_000018.4(ACADVL):c.878+18G>A	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2983527	NM_000018.4(ACADVL):c.1467T>C (p.Ser489=)	ACADVL	Single nucleotide variant (synonymous variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2983221	NM_000018.4(ACADVL):c.84G>A (p.Leu28=)	ACADVL, LOC130060113	Single nucleotide variant (synonymous variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2980072	NM_000018.4(ACADVL):c.40C>G (p.Leu14Val)	ACADVL, DLG4 (L14V)	Single nucleotide variant (5 prime UTR variant +3 more)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 2979952	NM_000018.4(ACADVL):c.278-12C>G	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2978782	NM_000018.4(ACADVL):c.278-12C>A	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2978538	NM_000018.4(ACADVL):c.139-16C>A	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2975993	NM_000018.4(ACADVL):c.1746C>T (p.Leu582=)	ACADVL	Single nucleotide variant (synonymous variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2975870	NM_000018.4(ACADVL):c.622+14del	ACADVL	Deletion (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2975869	NM_000018.4(ACADVL):c.621_622+9del	ACADVL	Deletion (splice donor variant)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 2975603	NM_000018.4(ACADVL):c.1435-4A>G	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2974642	NM_000018.4(ACADVL):c.1081G>T (p.Asp361Tyr)	ACADVL (D384Y +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2966573	NM_000018.4(ACADVL):c.1227G>C (p.Thr409=)	ACADVL	Single nucleotide variant (synonymous variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2963649	NM_000018.4(ACADVL):c.477+12C>T	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2962542	NM_000018.4(ACADVL):c.1917G>A (p.Lys639=)	ACADVL	Single nucleotide variant (synonymous variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2961615	NM_000018.4(ACADVL):c.384G>A (p.Val128=)	ACADVL	Single nucleotide variant (synonymous variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2960299	NM_000018.4(ACADVL):c.752+12C>G	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2960004	NM_000018.4(ACADVL):c.1434+20G>T	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2959929	NM_000018.4(ACADVL):c.1925T>C (p.Val642Ala)	ACADVL (V642A +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2959537	NM_000018.4(ACADVL):c.62+21_62+28del	ACADVL, LOC130060113	Deletion (5 prime UTR variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2958022	NM_000018.4(ACADVL):c.278-18G>T	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2957352	NM_000018.4(ACADVL):c.622+19del	ACADVL	Deletion (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2955031	NM_000018.4(ACADVL):c.1519A>G (p.Lys507Glu)	ACADVL (K530E +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2954735	NM_000018.4(ACADVL):c.1738del (p.Val580fs)	ACADVL (V603fs +3 more)	Deletion (frameshift variant)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 2920205	NM_000018.4(ACADVL):c.1679-18A>C	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2919362	NM_000018.4(ACADVL):c.741G>C (p.Lys247Asn)	ACADVL (K225N +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2918810	NM_000018.4(ACADVL):c.1269+15A>G	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2916379	NM_000018.4(ACADVL):c.1620G>A (p.Leu540=)	ACADVL	Single nucleotide variant (synonymous variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2916023	NM_000018.4(ACADVL):c.1333-16T>C	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2915835	NM_000018.4(ACADVL):c.278-9C>T	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2914700	NM_000018.4(ACADVL):c.1606-5T>C	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2914067	NM_000018.4(ACADVL):c.622+13T>C	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2914026	NM_000018.4(ACADVL):c.180G>A (p.Leu60=)	ACADVL	Single nucleotide variant (synonymous variant +2 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2912909	NM_000018.4(ACADVL):c.477+1G>A	ACADVL	Single nucleotide variant (splice donor variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2911899	NM_000018.4(ACADVL):c.1887G>A (p.Glu629=)	ACADVL	Single nucleotide variant (synonymous variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2911857	NM_000018.4(ACADVL):c.1248C>T (p.Ala416=)	ACADVL	Single nucleotide variant (synonymous variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2911852	NM_000018.4(ACADVL):c.1828-14T>C	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2910782	NM_000018.4(ACADVL):c.1606-16G>A	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2910410	NM_000018.4(ACADVL):c.761G>A (p.Gly254Asp)	ACADVL (G232D +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 2910360	NM_000018.4(ACADVL):c.1313G>C (p.Gly438Ala)	ACADVL (G416A +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2908059	NM_000018.4(ACADVL):c.138+15C>T	ACADVL, LOC130060113	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2908020	NM_000018.4(ACADVL):c.1752-14C>T	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2907982	NM_000018.4(ACADVL):c.1274C>T (p.Ala425Val)	ACADVL (A403V +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2907254	NM_000018.4(ACADVL):c.1435-15C>A	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2907024	NM_000018.4(ACADVL):c.1728T>C (p.Tyr576=)	ACADVL	Single nucleotide variant (synonymous variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2906689	NM_000018.4(ACADVL):c.922G>A (p.Ala308Thr)	ACADVL (A232T +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 2906219	NM_000018.4(ACADVL):c.1128T>C (p.Phe376=)	ACADVL	Single nucleotide variant (synonymous variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2905347	NM_000018.4(ACADVL):c.1335A>G (p.Glu445=)	ACADVL	Single nucleotide variant (synonymous variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2902362	NM_000018.4(ACADVL):c.878+22del	ACADVL	Deletion (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GBenign
Select item 2902284	NM_000018.4(ACADVL):c.277+11G>A	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2901914	NM_000018.4(ACADVL):c.656C>T (p.Pro219Leu)	ACADVL (P143L +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2901859	NM_000018.4(ACADVL):c.752+14C>T	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2901543	NM_000018.4(ACADVL):c.1679-19C>T	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2900355	NM_000018.4(ACADVL):c.1434+12A>C	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2900257	NM_000018.4(ACADVL):c.623-20A>G	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2897795	NM_000018.4(ACADVL):c.879-15A>G	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2897667	NM_000018.4(ACADVL):c.477+20A>G	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2896121	NM_000018.4(ACADVL):c.876C>G (p.Thr292=)	ACADVL	Single nucleotide variant (synonymous variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2895940	NM_000018.4(ACADVL):c.278-18G>A	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2893694	NM_000018.4(ACADVL):c.63-12del	ACADVL, LOC130060113	Deletion (5 prime UTR variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GBenign
Select item 2889402	NM_000018.4(ACADVL):c.387G>A (p.Glu129=)	ACADVL	Single nucleotide variant (synonymous variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2888850	NM_000018.4(ACADVL):c.1183-11T>C	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2885245	NM_000018.4(ACADVL):c.278-15C>T	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2885093	NM_000018.4(ACADVL):c.139-2A>G	ACADVL	Single nucleotide variant (splice acceptor variant +1 more)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2884065	NM_000018.4(ACADVL):c.1121A>C (p.His374Pro)	ACADVL (H298P +3 more)	Single nucleotide variant (missense variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2883322	NM_000018.4(ACADVL):c.879-2A>G	ACADVL	Single nucleotide variant (splice acceptor variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2883230	NM_000018.4(ACADVL):c.343-11G>C	ACADVL	Single nucleotide variant (intron variant)	Very long chain acyl-CoA dehydrogenase deficiency	GLikely benign

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