ClinVar for MedGen (Select 75696) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065010	NM_001985.3(ETFB):c.564C>A (p.Asn188Lys)	ETFB (N188K +1 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
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 3022689	NM_004453.4(ETFDH):c.838del (p.Val280fs)	ETFDH (V280fs +2 more)	Deletion (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 3022067	NM_004453.4(ETFDH):c.657A>G (p.Val219=)	ETFDH	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3021638	NM_004453.4(ETFDH):c.487+15A>T	ETFDH	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3020799	NM_001985.3(ETFB):c.267G>T (p.Val89=)	ETFB	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3019735	NM_004453.4(ETFDH):c.973-17_973-16del	ETFDH	Deletion (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3019124	NM_004453.4(ETFDH):c.684+12del	ETFDH	Deletion (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GBenign
Select item 3018806	NM_001985.3(ETFB):c.690G>A (p.Pro230=)	ETFB	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3016620	NM_004453.4(ETFDH):c.684+11T>C	ETFDH	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 3014802	NM_004453.4(ETFDH):c.1092A>G (p.Arg364=)	ETFDH	Single nucleotide variant (synonymous 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 3014224	NM_004453.4(ETFDH):c.607-3del	ETFDH	Deletion (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GBenign
Select item 3012939	NM_004453.4(ETFDH):c.972+16A>G	ETFDH	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3012834	NM_004453.4(ETFDH):c.1806C>T (p.Asn602=)	ETFDH	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3011672	NM_004453.4(ETFDH):c.1690+9T>G	ETFDH	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3010653	NM_001985.3(ETFB):c.30C>G (p.Val10=)	ETFB	Single nucleotide variant (synonymous 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 3008560	NM_001985.3(ETFB):c.58-12C>T	ETFB (P107S)	Single nucleotide variant (missense variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3007673	NM_001985.3(ETFB):c.306G>A (p.Leu102=)	ETFB	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3007129	NM_004453.4(ETFDH):c.487+20C>A	ETFDH	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3005676	NM_004453.4(ETFDH):c.607-15T>A	ETFDH	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3003971	NM_004453.4(ETFDH):c.1779del (p.Asp593fs)	ETFDH (D546fs +2 more)	Deletion (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 3003195	NM_004453.4(ETFDH):c.1691-15A>G	ETFDH	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3003135	NM_001985.3(ETFB):c.285A>G (p.Glu95=)	ETFB	Single nucleotide variant (synonymous 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 3001669	NM_004453.4(ETFDH):c.972+11T>A	ETFDH	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 3001330	NM_001985.3(ETFB):c.381C>T (p.Ile127=)	ETFB	Single nucleotide variant (synonymous 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 2998616	NM_004453.4(ETFDH):c.90T>C (p.Ala30=)	ETFDH	Single nucleotide variant (synonymous variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2998483	NM_001985.3(ETFB):c.666C>G (p.Leu222=)	ETFB	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	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 2995726	NM_004453.4(ETFDH):c.1170T>C (p.Gly390=)	ETFDH	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2995433	NM_001985.3(ETFB):c.462G>A (p.Thr154=)	ETFB	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2995274	NM_004453.4(ETFDH):c.406-20T>C	ETFDH	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2992769	NM_001985.3(ETFB):c.178G>T (p.Glu60Ter)	ETFB (E151* +1 more)	Single nucleotide variant (nonsense)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 2992762	NM_004453.4(ETFDH):c.405+19del	ETFDH	Deletion (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GBenign
Select item 2990977	NM_004453.4(ETFDH):c.832-16C>T	ETFDH	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2990828	NM_001985.3(ETFB):c.225T>A (p.Ile75=)	ETFB	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2990808	NM_001985.3(ETFB):c.12G>A (p.Leu4=)	ETFB	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2989550	NM_004453.4(ETFDH):c.534T>C (p.His178=)	ETFDH	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2989253	NM_001985.3(ETFB):c.57+9G>A	ETFB	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2988206	NM_004453.4(ETFDH):c.606+18T>G	ETFDH	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 2983024	NM_004453.4(ETFDH):c.831+19G>A	ETFDH	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2982806	NM_004453.4(ETFDH):c.252T>C (p.Ala84=)	ETFDH	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2980598	NM_004453.4(ETFDH):c.832-13T>C	ETFDH	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 2978835	NM_004453.4(ETFDH):c.1053A>T (p.Pro351=)	ETFDH	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2978584	NM_004453.4(ETFDH):c.1117-19T>G	ETFDH	Single nucleotide variant (intron variant)	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 2976678	NM_004453.4(ETFDH):c.1690+14T>C	ETFDH	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2974175	NM_001985.3(ETFB):c.598-8A>T	ETFB	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2965157	NM_004453.4(ETFDH):c.488-6T>C	ETFDH	Single nucleotide variant (intron variant)	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 2963979	NM_004453.4(ETFDH):c.1285+16G>A	ETFDH	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2963643	NM_004453.4(ETFDH):c.1286-20T>C	ETFDH	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2962109	NM_004453.4(ETFDH):c.34+16C>A	ETFDH	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2957337	NM_004453.4(ETFDH):c.51T>C (p.His17=)	ETFDH	Single nucleotide variant (synonymous variant +1 more)	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 2956225	NM_001985.3(ETFB):c.174G>A (p.Val58=)	ETFB	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 2919214	NM_004453.4(ETFDH):c.638G>C (p.Gly213Ala)	ETFDH (G152A +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 2919137	NM_001985.3(ETFB):c.58-10T>G	ETFB	Single nucleotide variant (synonymous variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2919020	NM_001985.3(ETFB):c.492G>A (p.Arg164=)	ETFB	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2918386	NM_004453.4(ETFDH):c.235G>A (p.Ala79Thr)	ETFDH (A18T +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 2916479	NM_004453.4(ETFDH):c.1468+14G>C	ETFDH	Single nucleotide variant (intron 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 2915204	NM_004453.4(ETFDH):c.1117-20C>G	ETFDH	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2914591	NM_004453.4(ETFDH):c.34+11A>G	ETFDH	Single nucleotide variant (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 2911845	NM_004453.4(ETFDH):c.405G>A (p.Gly135=)	ETFDH	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 2909200	NM_004453.4(ETFDH):c.175+20C>G	ETFDH	Single nucleotide variant (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 2905632	NM_004453.4(ETFDH):c.1468+20G>C	ETFDH	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2905484	NM_004453.4(ETFDH):c.684+19T>C	ETFDH	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2902912	NM_004453.4(ETFDH):c.1332A>G (p.Val444=)	ETFDH	Single nucleotide variant (synonymous variant)	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 2900315	NM_004453.4(ETFDH):c.951C>G (p.Pro317=)	ETFDH	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2899709	NM_004453.4(ETFDH):c.406-13_406-11del	ETFDH	Microsatellite (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2899173	NM_001985.3(ETFB):c.760C>A (p.Arg254=)	ETFB	Single nucleotide variant (synonymous 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 2897754	NM_001985.3(ETFB):c.598-15G>A	ETFB	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2896179	NM_004453.4(ETFDH):c.823C>T (p.Leu275=)	ETFDH	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2895811	NM_004453.4(ETFDH):c.832-4_832-3del	ETFDH	Deletion (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GBenign
Select item 2895551	NM_000126.4(ETFA):c.665-18T>C	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign

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