C0268596[trait identifier] AND "Mayo Clinic Laboratories, Mayo Clinic" - ClinVar

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Items: 23

	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 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 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
Select item 92443	NM_000126.4(ETFA):c.512C>T (p.Thr171Ile)	ETFA (T171I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 203686	NM_000126.4(ETFA):c.186+7A>G	ETFA	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 989861	NM_000126.4(ETFA):c.170G>C (p.Gly57Ala)	ETFA (G57A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1373300	NM_001985.3(ETFB):c.499G>C (p.Asp167His)	ETFB (D167H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 94018	NM_001985.3(ETFB):c.461C>T (p.Thr154Met)	ETFB (T154M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 203698	NM_001985.3(ETFB):c.447C>T (p.Phe149=)	ETFB	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency +2 more	GBenign
Select item 2169618	NM_001985.3(ETFB):c.343_345del (p.Glu115del)	ETFB (E115del +1 more)	Deletion (inframe_deletion)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 203696	NM_001985.3(ETFB):c.278C>T (p.Pro93Leu)	ETFB (P93L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1432891	NM_001985.3(ETFB):c.40A>C (p.Ile14Leu)	ETFB (I14L)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency +2 more	GUncertain significance

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Items: 23