"GeneDx"[submitter] AND "ETFA"[gene] - ClinVar

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Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 317151	NM_000126.4(ETFA):c.*268A>G	ETFA	Single nucleotide variant (3 prime UTR variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GBenign
Select item 317152	NM_000126.4(ETFA):c.*216A>T	ETFA	Single nucleotide variant (3 prime UTR variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GBenign
Select item 379937	NM_000126.4(ETFA):c.985A>C (p.Ile329Leu)	ETFA (I329L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 509665	NM_000126.4(ETFA):c.964-20C>G	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GBenign/Likely benign
Select item 1279723	NM_000126.4(ETFA):c.964-266dup	ETFA	Duplication (intron variant)	not provided	GBenign
Select item 1251280	NM_000126.4(ETFA):c.964-266_964-264dup	ETFA	Duplication (intron variant)	not provided	GBenign
Select item 1241673	NM_000126.4(ETFA):c.964-266_964-265dup	ETFA	Duplication (intron variant)	not provided	GBenign
Select item 1223904	NM_000126.4(ETFA):c.964-266_964-263dup	ETFA	Duplication (intron variant)	not provided	GBenign
Select item 1217790	NM_000126.4(ETFA):c.964-266_964-262dup	ETFA	Duplication (intron variant)	not provided	GLikely benign
Select item 1288440	NM_000126.4(ETFA):c.963+296A>G	ETFA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202690	NM_000126.4(ETFA):c.963+260C>T	ETFA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194204	NM_000126.4(ETFA):c.963+208A>G	ETFA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 451737	NM_000126.4(ETFA):c.931G>T (p.Ala311Ser)	ETFA (A311S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1272456	NM_000126.4(ETFA):c.883-76_883-75insGGTAA	ETFA	Insertion (intron variant)	not provided	GBenign
Select item 1243687	NM_000126.4(ETFA):c.883-77_883-76insGTAAG	ETFA	Insertion (intron variant)	not provided	GBenign
Select item 1195187	NM_000126.4(ETFA):c.883-269T>A	ETFA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673762	NM_000126.4(ETFA):c.882+54G>T	ETFA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 513093	NM_000126.4(ETFA):c.882+20del	ETFA	Deletion (intron variant)	not specified	GLikely benign
Select item 513614	NM_000126.4(ETFA):c.882+5T>C	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 203692	NM_000126.4(ETFA):c.826A>C (p.Ile276Leu)	ETFA (I276L +1 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 509275	NM_000126.4(ETFA):c.817-12C>T	ETFA	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1172731	NM_000126.4(ETFA):c.817-32A>G	ETFA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1189624	NM_000126.4(ETFA):c.817-85A>T	ETFA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212967	NM_000126.4(ETFA):c.817-144_817-141del	ETFA	Deletion (intron variant)	not provided	GLikely benign
Select item 1179622	NM_000126.4(ETFA):c.817-301T>C	ETFA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 681621	NM_000126.4(ETFA):c.816+227A>G	ETFA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209001	NM_000126.4(ETFA):c.806TAG[1] (p.Val270del)	ETFA (V221del +1 more)	Microsatellite (inframe_deletion)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2594	NM_000126.4(ETFA):c.797C>T (p.Thr266Met)	ETFA (T266M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1712210	NM_000126.4(ETFA):c.776A>G (p.Asn259Ser)	ETFA (N210S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 137225	NM_000126.4(ETFA):c.734-20C>A	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency +2 more	GBenign
Select item 1197835	NM_000126.4(ETFA):c.734-107A>G	ETFA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197140	NM_000126.4(ETFA):c.733+250T>C	ETFA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208115	NM_000126.4(ETFA):c.733+113G>A	ETFA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2154765	NM_000126.4(ETFA):c.668G>A (p.Arg223Gln)	ETFA (R223Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 429752	NM_000126.4(ETFA):c.667C>T (p.Arg223Ter)	ETFA (R223* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1203081	NM_000126.4(ETFA):c.664+58del	ETFA	Deletion (intron variant)	not provided	GLikely benign
Select item 1206923	NM_000126.4(ETFA):c.664+27T>A	ETFA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 265123	NM_000126.4(ETFA):c.625C>T (p.Arg209Ter)	ETFA (R209* +1 more)	Single nucleotide variant (nonsense)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 203688	NM_000126.4(ETFA):c.580G>A (p.Val194Met)	ETFA (V194M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1204588	NM_000126.4(ETFA):c.562+104A>C	ETFA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212927	NM_000126.4(ETFA):c.562+100T>C	ETFA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208065	NM_000126.4(ETFA):c.562+31_562+34del	ETFA	Deletion (intron variant)	not provided	GLikely benign
Select item 317156	NM_000126.4(ETFA):c.562+11A>T	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GBenign
Select item 1348505	NM_000126.4(ETFA):c.557A>G (p.Glu186Gly)	ETFA (E186G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1123177	NM_000126.4(ETFA):c.540C>G (p.Gly180=)	ETFA	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 203687	NM_000126.4(ETFA):c.533C>G (p.Thr178Arg)	ETFA (T178R +1 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 92443	NM_000126.4(ETFA):c.512C>T (p.Thr171Ile)	ETFA (T171I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2500579	NM_000126.4(ETFA):c.483G>C (p.Glu161Asp)	ETFA (E112D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 509768	NM_000126.4(ETFA):c.452-11del	ETFA	Deletion (intron variant)	not specified +1 more	GLikely benign
Select item 1251615	NM_000126.4(ETFA):c.452-175G>A	ETFA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218160	NM_000126.4(ETFA):c.452-212C>T	ETFA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671459	NM_000126.4(ETFA):c.452-268C>T	ETFA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216370	NM_000126.4(ETFA):c.451+287T>C	ETFA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672470	NM_000126.4(ETFA):c.451+253A>G	ETFA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 381198	NM_000126.4(ETFA):c.451+14G>A	ETFA	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1037675	NM_000126.4(ETFA):c.431T>C (p.Phe144Ser)	ETFA (F95S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 681672	NM_000126.4(ETFA):c.352-241G>A	ETFA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683823	NM_000126.4(ETFA):c.352-261G>A	ETFA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293654	NM_000126.4(ETFA):c.351+83dup	ETFA	Duplication (intron variant)	not provided	GBenign
Select item 137224	NM_000126.4(ETFA):c.351+17T>C	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency +2 more	GBenign/Likely benign
Select item 1800683	NM_000126.4(ETFA):c.322A>G (p.Ile108Val)	ETFA (I108V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 203690	NM_000126.4(ETFA):c.215G>A (p.Gly72Asp)	ETFA (G72D +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 680103	NM_000126.4(ETFA):c.186+155G>A	ETFA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 377832	NM_000126.4(ETFA):c.186+16G>T	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GBenign
Select item 203686	NM_000126.4(ETFA):c.186+7A>G	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 989861	NM_000126.4(ETFA):c.170G>C (p.Gly57Ala)	ETFA (G57A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 666198	NM_000126.4(ETFA):c.52C>T (p.Arg18Ter)	ETFA (R18*)	Single nucleotide variant (nonsense +1 more)	Multiple acyl-CoA dehydrogenase deficiency +2 more	GPathogenic
Select item 1254449	NM_000126.4(ETFA):c.40-45G>C	ETFA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267363	NM_000126.4(ETFA):c.40-66_40-65dup	ETFA	Duplication (intron variant)	not provided	GBenign
Select item 1239873	NM_000126.4(ETFA):c.40-66dup	ETFA	Duplication (intron variant)	not provided	GBenign
Select item 1262687	NM_000126.4(ETFA):c.40-50del	ETFA	Deletion (intron variant)	not provided	GBenign
Select item 1218363	NM_000126.4(ETFA):c.40-51_40-50del	ETFA	Deletion (intron variant)	not provided	GLikely benign
Select item 1254368	NM_000126.4(ETFA):c.40-244C>T	ETFA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683822	NM_000126.4(ETFA):c.40-269_40-266del	ETFA	Deletion (intron variant)	not provided	GBenign
Select item 683979	NM_000126.4(ETFA):c.40-269A>G	ETFA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679968	NM_000126.4(ETFA):c.39+234G>A	ETFA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208578	NM_000126.4(ETFA):c.39+85C>G	ETFA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233026	NM_000126.4(ETFA):c.39+80del	ETFA	Deletion (intron variant)	not provided	GBenign
Select item 1212390	NM_000126.4(ETFA):c.39+31G>C	ETFA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 92442	NM_000126.4(ETFA):c.39+12C>G	ETFA	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1695799	NM_000126.4(ETFA):c.26A>G (p.Gln9Arg)	ETFA (Q9R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 514597	NM_000126.4(ETFA):c.21G>C (p.Pro7=)	ETFA	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 284234	NM_000126.4(ETFA):c.6C>T (p.Phe2=)	ETFA	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 167039	NM_000126.4(ETFA):c.2T>C (p.Met1Thr)	ETFA (M1T)	Single nucleotide variant (missense variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 386719	NM_000126.4(ETFA):c.-24G>T	ETFA	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 511921	NM_000126.4(ETFA):c.-31T>C	ETFA	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 383360	NM_000126.4(ETFA):c.-40G>A	ETFA	Single nucleotide variant (5 prime UTR variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 382219	NM_000126.4(ETFA):c.-42C>T	ETFA	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 513237	NM_000126.4(ETFA):c.-48C>T	ETFA	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 317161	NM_000126.4(ETFA):c.-71T>C	ETFA	Single nucleotide variant (5 prime UTR variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 1199610	NC_000015.10:g.76311509G>C	ETFA	Single nucleotide variant	not provided	GLikely benign
Select item 1216459	NC_000015.10:g.76311530C>T	ETFA	Single nucleotide variant	not provided	GLikely benign
Select item 676233	NM_000126.3(ETFA):c.-199G>A	ETFA	Single nucleotide variant	not provided	GBenign
Select item 254015	GRCh37/hg19 15q24.1-24.3(chr15:74368270-78122737)x3	ARID3B, C15orf39 +49 more	Copy number gain	See cases	GUncertain significance
Select item 254010	GRCh37/hg19 15q24.2-24.3(chr15:76223116-77023288)x3	FBXO22, ISL2 +5 more	Copy number gain	See cases	GUncertain significance
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic

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Items: 96