C0268596[trait identifier] AND "MGZ Medical Genetics Center"[submitter - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1709659	NM_004453.4(ETFDH):c.784T>G (p.Leu262Val)	ETFDH (L201V +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 31601	NM_004453.4(ETFDH):c.1130T>C (p.Leu377Pro)	ETFDH (L377P +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 374577	NM_004453.4(ETFDH):c.1366C>T (p.Pro456Ser)	ETFDH (P456S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1709338	NM_004453.4(ETFDH):c.1465A>G (p.Lys489Glu)	ETFDH (K428E +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 1522693	NM_000126.4(ETFA):c.186+1G>A	ETFA	Single nucleotide variant (intron variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 1419746	NM_001985.3(ETFB):c.605AGA[3] (p.Lys205del)	ETFB (K205del +1 more)	Microsatellite (inframe_deletion)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance

ClinVar