ClinVar for MedGen (Select 75696) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248432	NC_000019.9:g.(?_51848465)_(51850332_?)del	ETFB	Deletion	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 3248431	NC_000019.9:g.(?_51850134)_(51869580_?)del	ETFB	Deletion	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 3248430	NC_000019.9:g.(?_51869504)_(51869580_?)del	ETFB	Deletion	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 3246605	NC_000004.11:g.(?_159601609)_(159606381_?)dup	ETFDH	Duplication	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3246604	NC_000004.11:g.(?_159605724)_(159611597_?)del	ETFDH	Deletion	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 3246603	NC_000004.11:g.(?_159593609)_(159611597_?)del	ETFDH	Deletion	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 3246602	NC_000004.11:g.(?_159593609)_(159603596_?)del	ETFDH	Deletion	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
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 3241436	NM_004453.4(ETFDH):c.914dup (p.Gly306fs)	ETFDH (G245fs +2 more)	Duplication (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3241435	NM_004453.4(ETFDH):c.521T>C (p.Val174Ala)	ETFDH (V113A +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3241434	NM_004453.4(ETFDH):c.1471dup (p.Ser491fs)	ETFDH (S430fs +2 more)	Duplication (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3241433	NM_004453.4(ETFDH):c.1427G>A (p.Trp476Ter)	ETFDH (W415* +2 more)	Single nucleotide variant (nonsense)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3241432	NM_004453.4(ETFDH):c.260del (p.Leu87fs)	ETFDH (L26fs +2 more)	Deletion (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3241431	NM_004453.4(ETFDH):c.1368_1371del (p.Ser457fs)	ETFDH (S396fs +2 more)	Deletion (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3241430	NM_004453.4(ETFDH):c.528G>C (p.Leu176Phe)	ETFDH (L115F +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3241429	NM_004453.4(ETFDH):c.119del (p.Pro40fs)	ETFDH (P40fs)	Deletion (frameshift variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3241428	NM_004453.4(ETFDH):c.606+4dup	ETFDH	Duplication (splice donor variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3241427	NM_004453.4(ETFDH):c.1260dup (p.Glu421Ter)	ETFDH (E360* +2 more)	Duplication (nonsense)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3241426	NM_004453.4(ETFDH):c.890G>A (p.Trp297Ter)	ETFDH (W236* +2 more)	Single nucleotide variant (nonsense)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3241425	NM_004453.4(ETFDH):c.1750C>T (p.Gln584Ter)	ETFDH (Q523* +2 more)	Single nucleotide variant (nonsense)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3241423	NM_004453.4(ETFDH):c.1083C>G (p.Tyr361Ter)	ETFDH (Y300* +2 more)	Single nucleotide variant (nonsense)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 3241422	NM_001985.3(ETFB):c.59_63dup	ETFB (V113fs)	Duplication (frameshift variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3241421	NM_001985.3(ETFB):c.376-2A>C	ETFB	Single nucleotide variant (splice acceptor variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3241420	NM_001985.3(ETFB):c.341_342delinsT (p.Lys114fs)	ETFB (K114fs +1 more)	Indel (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
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 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/Likely pathogenic
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

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