"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "ETFDH"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 95075	NM_004453.4(ETFDH):c.92C>T (p.Thr31Ile)	ETFDH (T31I)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 1568040	NM_004453.4(ETFDH):c.122G>A (p.Arg41Gln)	ETFDH (R41Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2200222	NM_004453.4(ETFDH):c.320C>T (p.Ala107Val)	ETFDH (A60V +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 1028248	NM_004453.4(ETFDH):c.405+3A>G	ETFDH	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 +1 more	GConflicting classifications of pathogenicity
Select item 137233	NM_004453.4(ETFDH):c.832-10T>G	ETFDH	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3379568	NM_004453.4(ETFDH):c.886G>C (p.Gly296Arg)	ETFDH (G235R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1920130	NM_004453.4(ETFDH):c.1178A>G (p.Asn393Ser)	ETFDH (N393S +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 1163838	NM_004453.4(ETFDH):c.1199C>T (p.Thr400Ile)	ETFDH (T339I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 559309	NM_004453.4(ETFDH):c.1310A>G (p.Asp437Gly)	ETFDH (D437G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 203722	NM_004453.4(ETFDH):c.1351G>C (p.Val451Leu)	ETFDH (V451L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 203723	NM_004453.4(ETFDH):c.1375C>T (p.His459Tyr)	ETFDH (H459Y +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 137235	NM_004453.4(ETFDH):c.1533T>C (p.Asp511=)	ETFDH	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency +2 more	GBenign/Likely benign
Select item 347959	NM_004453.4(ETFDH):c.1590A>G (p.Glu530=)	ETFDH	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GBenign/Likely benign
Select item 1163839	NM_004453.4(ETFDH):c.1652C>T (p.Ser551Leu)	ETFDH (S490L +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 990943	NM_004453.4(ETFDH):c.1676G>A (p.Arg559Gln)	ETFDH (R498Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 516413	NM_004453.4(ETFDH):c.1812G>A (p.Val604=)	ETFDH	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GBenign/Likely benign