"PreventionGenetics, part of Exact Sciences"[submitter] AND "ETFDH"[ge - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2631586	NM_004453.4(ETFDH):c.151del (p.Arg51fs)	ETFDH (R51fs)	Deletion (frameshift variant +1 more)	ETFDH-related condition	GLikely pathogenic
Select item 2627341	NM_004453.4(ETFDH):c.245C>T (p.Ser82Phe)	ETFDH (S21F +2 more)	Single nucleotide variant (missense variant)	ETFDH-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1139675	NM_004453.4(ETFDH):c.285A>G (p.Glu95=)	ETFDH	Single nucleotide variant (synonymous variant)	ETFDH-related condition +1 more	GLikely benign
Select item 203727	NM_004453.4(ETFDH):c.302_303dup (p.Leu102fs)	ETFDH (L41fs +2 more)	Microsatellite (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 167041	NM_004453.4(ETFDH):c.381C>T (p.Leu127=)	ETFDH	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 901901	NM_004453.4(ETFDH):c.414T>G (p.Leu138=)	ETFDH	Single nucleotide variant (synonymous variant)	ETFDH-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1926332	NM_004453.4(ETFDH):c.471T>C (p.Pro157=)	ETFDH	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 203715	NM_004453.4(ETFDH):c.572G>A (p.Gly191Asp)	ETFDH (G191D +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 3032131	NM_004453.4(ETFDH):c.606+3T>G	ETFDH	Single nucleotide variant (intron variant)	ETFDH-related condition	GLikely benign
Select item 381392	NM_004453.4(ETFDH):c.627T>C (p.Gly209=)	ETFDH	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1641237	NM_004453.4(ETFDH):c.777G>A (p.Lys259=)	ETFDH	Single nucleotide variant (synonymous variant)	ETFDH-related condition +1 more	GLikely benign
Select item 137233	NM_004453.4(ETFDH):c.832-10T>G	ETFDH	Single nucleotide variant (intron variant)	ETFDH-related condition +2 more	GConflicting classifications of pathogenicity
Select item 510875	NM_004453.4(ETFDH):c.888T>C (p.Gly296=)	ETFDH	Single nucleotide variant (synonymous variant)	ETFDH-related condition +2 more	GLikely benign
Select item 708396	NM_004453.4(ETFDH):c.1049G>A (p.Arg350Gln)	ETFDH (R289Q +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 137234	NM_004453.4(ETFDH):c.1080A>G (p.Ala360=)	ETFDH	Single nucleotide variant (synonymous variant)	ETFDH-related condition +2 more	GBenign/Likely benign
Select item 459962	NM_004453.4(ETFDH):c.1084G>A (p.Gly362Arg)	ETFDH (G362R +2 more)	Single nucleotide variant (missense variant)	ETFDH-related condition +1 more	GLikely pathogenic
Select item 2634028	NM_004453.4(ETFDH):c.1213A>G (p.Lys405Glu)	ETFDH (K344E +2 more)	Single nucleotide variant (missense variant)	ETFDH-related condition	GUncertain significance
Select item 3051961	NM_004453.4(ETFDH):c.1469-6_1469-4del	ETFDH	Microsatellite (intron variant)	ETFDH-related condition	GLikely benign
Select item 347959	NM_004453.4(ETFDH):c.1590A>G (p.Glu530=)	ETFDH	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency +2 more	GBenign/Likely benign
Select item 3043821	NM_004453.4(ETFDH):c.1648C>T (p.Leu550=)	ETFDH	Single nucleotide variant (synonymous variant)	ETFDH-related condition	GLikely benign
Select item 1800479	NM_004453.4(ETFDH):c.1690+2T>G	ETFDH	Single nucleotide variant (splice donor variant)	ETFDH-related condition +2 more	GPathogenic/Likely pathogenic
Select item 516413	NM_004453.4(ETFDH):c.1812G>A (p.Val604=)	ETFDH	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency +2 more	GBenign/Likely benign
Select item 2627189	NM_004453.4(ETFDH):c.1831G>A (p.Gly611Arg)	ETFDH (G550R +2 more)	Single nucleotide variant (missense variant)	ETFDH-related condition +1 more	GLikely pathogenic

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Items: 23