"Ambry Genetics"[submitter] AND "ETFB"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2539042	NM_001985.3(ETFB):c.736G>A (p.Val246Met)	ETFB (V246M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 203700	NM_001985.3(ETFB):c.709G>A (p.Val237Ile)	ETFB (V237I +1 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 1449278	NM_001985.3(ETFB):c.706G>A (p.Gly236Ser)	ETFB (G327S +1 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 3276578	NM_001985.3(ETFB):c.701C>T (p.Thr234Met)	ETFB (T325M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404715	NM_001985.3(ETFB):c.581C>T (p.Thr194Met)	ETFB (T194M +1 more)	Single nucleotide variant (missense variant)	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 2168987	NM_001985.3(ETFB):c.498C>G (p.Ile166Met)	ETFB (I166M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2163140	NM_001985.3(ETFB):c.353A>G (p.Asp118Gly)	ETFB (D209G +1 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 225063	NM_001985.3(ETFB):c.278dup (p.Ala94fs)	ETFB (A185fs +1 more)	Duplication (frameshift variant)	Inborn genetic diseases	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 2142861	NM_001985.3(ETFB):c.254G>A (p.Arg85Gln)	ETFB (R85Q +1 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 1510102	NM_001985.3(ETFB):c.247G>A (p.Ala83Thr)	ETFB (A83T +1 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 3090699	NM_001985.3(ETFB):c.238G>A (p.Ala80Thr)	ETFB (A171T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 203702	NM_001985.3(ETFB):c.227G>A (p.Arg76His)	ETFB (R76H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1442416	NM_001985.3(ETFB):c.184A>G (p.Ile62Val)	ETFB (I153V +1 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 2415993	NM_001985.3(ETFB):c.166A>C (p.Lys56Gln)	ETFB (K147Q +1 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 969573	NM_001985.3(ETFB):c.118C>A (p.Pro40Thr)	ETFB (P40T +1 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 1425103	NM_001985.3(ETFB):c.92C>T (p.Thr31Met)	ETFB (T122M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1413420	NM_001985.3(ETFB):c.82G>A (p.Gly28Ser)	ETFB (G28S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3090700	NM_001985.3(ETFB):c.62G>C (p.Arg21Pro)	ETFB (R21P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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
Select item 1367070	NM_001985.3(ETFB):c.22G>A (p.Val8Ile)	ETFB (V8I)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GUncertain significance

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Items: 22