"Baylor Genetics"[submitter] AND "ETFA"[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2597	NM_000126.4(ETFA):c.963+1del	ETFA	Deletion (splice donor variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1924837	NM_000126.4(ETFA):c.826_833dup (p.Gly279fs)	ETFA (G230fs +1 more)	Duplication (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
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 1451237	NM_000126.4(ETFA):c.693dup (p.Lys232Ter)	ETFA (K232* +1 more)	Duplication (nonsense)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 2675078	NM_000126.4(ETFA):c.689dup (p.Asn230fs)	ETFA (N181fs +1 more)	Duplication (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
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 2675084	NM_000126.4(ETFA):c.665-1G>A	ETFA	Single nucleotide variant (splice acceptor variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2675083	NM_000126.4(ETFA):c.664+2dup	ETFA	Duplication (splice donor variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2675081	NM_000126.4(ETFA):c.650_653dup (p.Val219fs)	ETFA (V170fs +1 more)	Duplication (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 853348	NM_000126.4(ETFA):c.625del (p.Arg209fs)	ETFA (R209fs +1 more)	Deletion (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
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 2675073	NM_000126.4(ETFA):c.516del (p.Phe173fs)	ETFA (F124fs +1 more)	Deletion (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 459956	NM_000126.4(ETFA):c.495_496del (p.Ser167fs)	ETFA (S118fs +1 more)	Microsatellite (frameshift variant)	ETFA-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 1301310	NM_000126.4(ETFA):c.494T>C (p.Val165Ala)	ETFA (V116A +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2593	NM_000126.4(ETFA):c.470T>G (p.Val157Gly)	ETFA (V157G +1 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic/Likely 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 1524742	NM_000126.4(ETFA):c.452-2A>G	ETFA	Single nucleotide variant (splice acceptor 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 2675086	NM_000126.4(ETFA):c.451+1G>A	ETFA	Single nucleotide variant (splice donor variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2675079	NM_000126.4(ETFA):c.375_379delinsAAA (p.Lys126fs)	ETFA (K126fs +1 more)	Indel (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2675087	NM_000126.4(ETFA):c.371_372dup (p.Ala125fs)	ETFA (A125fs +1 more)	Duplication (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2675076	NM_000126.4(ETFA):c.365G>A (p.Arg122Lys)	ETFA (R122K +1 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2595	NM_000126.4(ETFA):c.346G>A (p.Gly116Arg)	ETFA (G116R +1 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2675072	NM_000126.4(ETFA):c.298_325del (p.Gln100fs)	ETFA (Q100fs +1 more)	Deletion (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 1454663	NM_000126.4(ETFA):c.321_322del (p.Ile108fs)	ETFA (I108fs +1 more)	Microsatellite (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 1324349	NM_000126.4(ETFA):c.319_322del (p.His107fs)	ETFA (H107fs +1 more)	Microsatellite (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 2058011	NM_000126.4(ETFA):c.284dup (p.Leu95fs)	ETFA (L46fs +1 more)	Duplication (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 2675080	NM_000126.4(ETFA):c.268+1G>C	ETFA	Single nucleotide variant (splice donor variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2675082	NM_000126.4(ETFA):c.266del (p.Pro89fs)	ETFA (P40fs +1 more)	Deletion (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2675077	NM_000126.4(ETFA):c.238C>T (p.Gln80Ter)	ETFA (Q31* +1 more)	Single nucleotide variant (nonsense)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2675074	NM_000126.4(ETFA):c.226del (p.Val76fs)	ETFA (V27fs +1 more)	Deletion (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2675088	NM_000126.4(ETFA):c.203_204del (p.Leu67_Cys68insTer)	ETFA	Deletion (nonsense)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 2675075	NM_000126.4(ETFA):c.193C>T (p.Gln65Ter)	ETFA (Q16* +1 more)	Single nucleotide variant (nonsense)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
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 1029497	NM_000126.4(ETFA):c.173C>G (p.Thr58Ser)	ETFA (T58S)	Single nucleotide variant (missense variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	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 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 872253	NM_000126.4(ETFA):c.15_25dup (p.Gln9fs)	ETFA (Q9fs)	Duplication (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GPathogenic
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 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

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Items: 41