Related gene-specific medical variations for Gene (Select 2108) - ClinVar

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Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 1252024	NM_000126.4(ETFA):c.27_30del	ETFA	Deletion (3 prime UTR variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 990298	NM_000126.4(ETFA):c.-9G>T	ETFA	Single nucleotide variant (5 prime UTR variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 989860	NM_000126.4(ETFA):c.197A>G (p.Asp66Gly)	ETFA (D17G +1 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 989859	NM_000126.4(ETFA):c.218T>C (p.Ile73Thr)	ETFA (I24T +1 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 989855	NM_000126.4(ETFA):c.876C>A (p.Asp292Glu)	ETFA (D243E +1 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 989854	NM_000126.4(ETFA):c.883-3C>T	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 980535	GRCh37/hg19 15q24.2-24.3(chr15:76534705-76607591)x1	ETFA	Copy number loss	not provided	GUncertain significance
Select item 931509	NM_000126.4(ETFA):c.379C>T (p.Leu127Phe)	ETFA (L127F +1 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 444349	NM_000126.4(ETFA):c.37G>A (p.Ala13Thr)	ETFA (A13T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 226249	GRCh37/hg19 15q24.2-24.3(chr15:76524284-76625437)	ETFA	Copy number loss	Abnormal esophagus morphology	GLikely benign

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Items: 27