ClinVar for Gene (Select 2108) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362428	NM_000126.4(ETFA):c.883-1_885del	ETFA	Deletion (splice acceptor variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3358868	NM_000126.4(ETFA):c.964-1G>A	ETFA	Single nucleotide variant (splice acceptor variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3351921	NM_000126.4(ETFA):c.703T>C (p.Tyr235His)	ETFA (Y186H +1 more)	Single nucleotide variant (missense variant)	ETFA-related disorder	GUncertain significance
Select item 3335991	NM_000126.4(ETFA):c.347G>A (p.Gly116Glu)	ETFA (G116E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276577	NM_000126.4(ETFA):c.83A>G (p.His28Arg)	ETFA (H28R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3243780	NC_000015.9:g.(?_74219125)_(77329517_?)del	ARID3B, C15orf39 +47 more	Deletion	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GUncertain significance
Select item 3243764	NC_000015.9:g.(?_76566733)_(76603729_?)del	ETFA	Deletion	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 3243763	NC_000015.9:g.(?_76566733)_(76566855_?)del	ETFA	Deletion	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 3241419	NM_000126.4(ETFA):c.451+1G>T	ETFA	Single nucleotide variant (splice donor variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3241417	NM_000126.4(ETFA):c.465T>A (p.Cys155Ter)	ETFA (C106* +1 more)	Single nucleotide variant (nonsense)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3090697	NM_000126.4(ETFA):c.665G>T (p.Gly222Val)	ETFA (G173V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3032689	NM_000126.4(ETFA):c.-8C>T	ETFA	Single nucleotide variant (5 prime UTR variant)	ETFA-related disorder	GLikely benign
Select item 3022983	NM_000126.4(ETFA):c.352-19C>T	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3016496	NM_000126.4(ETFA):c.69G>A (p.Leu23=)	ETFA	Single nucleotide variant (synonymous variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3015819	NM_000126.4(ETFA):c.664+16A>C	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3014364	NM_000126.4(ETFA):c.562+15G>C	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3010111	NM_000126.4(ETFA):c.733+8T>C	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3003121	NM_000126.4(ETFA):c.40-21_40-18dup	ETFA	Duplication (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3000420	NM_000126.4(ETFA):c.867G>A (p.Gly289=)	ETFA	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2998281	NM_000126.4(ETFA):c.451+17G>T	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 2998247	NM_000126.4(ETFA):c.665-14T>C	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2997644	NM_000126.4(ETFA):c.187-17T>G	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2988046	NM_000126.4(ETFA):c.187-18C>T	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2979882	NM_000126.4(ETFA):c.39+19G>A	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2979874	NM_000126.4(ETFA):c.99A>G (p.Leu33=)	ETFA	Single nucleotide variant (synonymous variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2977157	NM_000126.4(ETFA):c.352-16C>G	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2977106	NM_000126.4(ETFA):c.51A>G (p.Leu17=)	ETFA	Single nucleotide variant (synonymous variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2965103	NM_000126.4(ETFA):c.882+14A>T	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2957008	NM_000126.4(ETFA):c.261A>G (p.Leu87=)	ETFA	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2955547	NM_000126.4(ETFA):c.562+13T>G	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2955230	NM_000126.4(ETFA):c.269-19A>G	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2955047	NM_000126.4(ETFA):c.40-21_40-19dup	ETFA	Duplication (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2920330	NM_000126.4(ETFA):c.549C>T (p.Ala183=)	ETFA	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2915258	NM_000126.4(ETFA):c.39+18del	ETFA	Deletion (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2914139	NM_000126.4(ETFA):c.594G>A (p.Glu198=)	ETFA	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2912648	NM_000126.4(ETFA):c.883-17_883-16del	ETFA	Deletion (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2908264	NM_000126.4(ETFA):c.665-15A>G	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2908194	NM_000126.4(ETFA):c.352-7C>T	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2906685	NM_000126.4(ETFA):c.81G>A (p.Glu27=)	ETFA	Single nucleotide variant (synonymous variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2902905	NM_000126.4(ETFA):c.452-17T>C	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2901909	NM_000126.4(ETFA):c.322_323del (p.Ile108fs)	ETFA (I59fs +1 more)	Deletion (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 2900485	NM_000126.4(ETFA):c.39+9G>C	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2899105	NM_000126.4(ETFA):c.817-12_817-11del	ETFA	Microsatellite (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2895551	NM_000126.4(ETFA):c.665-18T>C	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2894860	NM_000126.4(ETFA):c.964-20C>T	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2894785	NM_000126.4(ETFA):c.351+18G>A	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2894130	NM_000126.4(ETFA):c.597G>A (p.Trp199Ter)	ETFA (W150* +1 more)	Single nucleotide variant (nonsense)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 2893392	NM_000126.4(ETFA):c.187-14T>C	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2889383	NM_000126.4(ETFA):c.268+15T>C	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2880810	NM_000126.4(ETFA):c.303G>A (p.Lys101=)	ETFA	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2874764	NM_000126.4(ETFA):c.351+20G>A	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2873966	NM_000126.4(ETFA):c.562+11A>G	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2873192	NM_000126.4(ETFA):c.40-20_40-19dup	ETFA	Duplication (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GBenign
Select item 2872948	NM_000126.4(ETFA):c.864T>G (p.Ala288=)	ETFA	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2868813	NM_000126.4(ETFA):c.351+2T>C	ETFA	Single nucleotide variant (splice donor variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2864511	NM_000126.4(ETFA):c.311_312del (p.Asn104fs)	ETFA (N104fs +1 more)	Deletion (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 2855746	NM_000126.4(ETFA):c.687G>A (p.Glu229=)	ETFA	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2855214	NM_000126.4(ETFA):c.451+15A>G	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2852301	NM_000126.4(ETFA):c.33G>C (p.Arg11=)	ETFA	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2850573	NM_000126.4(ETFA):c.452-7G>T	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2846879	NM_000126.4(ETFA):c.269-15G>T	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2844458	NM_000126.4(ETFA):c.177del (p.Lys59fs)	ETFA (K59fs)	Deletion (frameshift variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 2836595	NM_000126.4(ETFA):c.734-2A>G	ETFA	Single nucleotide variant (splice acceptor variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2834115	NM_000126.4(ETFA):c.426C>T (p.Asp142=)	ETFA	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2833167	NM_000126.4(ETFA):c.927A>G (p.Gln309=)	ETFA	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2832082	NM_000126.4(ETFA):c.452-13T>A	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2829529	NM_000126.4(ETFA):c.563-11A>T	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2825694	NM_000126.4(ETFA):c.734-8C>T	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2819872	NM_000126.4(ETFA):c.560del (p.Lys187fs)	ETFA (K138fs +1 more)	Deletion (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 2815004	NM_000126.4(ETFA):c.657A>G (p.Val219=)	ETFA	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2812420	NM_000126.4(ETFA):c.352-1G>A	ETFA	Single nucleotide variant (splice acceptor variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2807135	NM_000126.4(ETFA):c.964-4G>T	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2802837	NM_000126.4(ETFA):c.126T>G (p.Thr42=)	ETFA	Single nucleotide variant (synonymous variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2802733	NM_000126.4(ETFA):c.734-17A>G	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2801633	NM_000126.4(ETFA):c.268+12C>T	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2795802	NM_000126.4(ETFA):c.817-8del	ETFA	Deletion (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GBenign
Select item 2792564	NM_000126.4(ETFA):c.462A>G (p.Leu154=)	ETFA	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2788753	NM_000126.4(ETFA):c.734-9del	ETFA	Deletion (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GBenign
Select item 2787329	NM_000126.4(ETFA):c.39+17A>G	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2785152	NM_000126.4(ETFA):c.37dup (p.Ala13fs)	ETFA (A13fs)	Duplication (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 2781396	NM_000126.4(ETFA):c.696G>A (p.Lys232=)	ETFA	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2771690	NM_000126.4(ETFA):c.39+11A>C	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2770571	NM_000126.4(ETFA):c.269-2A>G	ETFA	Single nucleotide variant (splice acceptor variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2769582	NM_000126.4(ETFA):c.351+1G>A	ETFA	Single nucleotide variant (splice donor variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2766888	NM_000126.4(ETFA):c.593_594del (p.Glu198fs)	ETFA (E149fs +1 more)	Microsatellite (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 2762064	NM_000126.4(ETFA):c.186+8A>T	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2761911	NM_000126.4(ETFA):c.630A>G (p.Pro210=)	ETFA	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2759952	NM_000126.4(ETFA):c.282A>G (p.Pro94=)	ETFA	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2756419	NM_000126.4(ETFA):c.665-12T>A	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2755571	NM_000126.4(ETFA):c.664+20T>C	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2755271	NM_000126.4(ETFA):c.39+1G>A	ETFA	Single nucleotide variant (splice donor variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2753802	NM_000126.4(ETFA):c.733+16T>A	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2752120	NM_000126.4(ETFA):c.297T>G (p.Thr99=)	ETFA	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2751008	NM_000126.4(ETFA):c.452-7G>A	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2749169	NM_000126.4(ETFA):c.213A>G (p.Ala71=)	ETFA	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2747655	NM_000126.4(ETFA):c.39+14G>T	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2742424	NM_000126.4(ETFA):c.268+14G>A	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2738664	NM_000126.4(ETFA):c.963+14G>A	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2738584	NM_000126.4(ETFA):c.665-16dup	ETFA	Duplication (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2737580	NM_000126.4(ETFA):c.269-5C>A	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign

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