"ETFB-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2884524	NM_001985.3(ETFB):c.669T>C (p.Ser223=)	ETFB	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 203699	NM_001985.3(ETFB):c.521G>A (p.Arg174His)	ETFB (R174H +1 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency +2 more	GLikely benign
Select item 2072704	NM_001985.3(ETFB):c.520C>T (p.Arg174Cys)	ETFB (R174C +1 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 203697	NM_001985.3(ETFB):c.292C>T (p.Arg98Cys)	ETFB (R98C +1 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency +4 more	GConflicting classifications of pathogenicity
Select item 703526	NM_001985.3(ETFB):c.264C>T (p.His88=)	ETFB	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 1152263	NM_001985.3(ETFB):c.216+7A>G	ETFB	Single nucleotide variant (intron variant)	ETFB-related disorder +1 more	GLikely benign
Select item 3050765	NM_001985.3(ETFB):c.177G>A (p.Lys59=)	ETFB	Single nucleotide variant (synonymous variant)	ETFB-related disorder	GLikely benign
Select item 1028938	NM_001985.3(ETFB):c.58-87A>C	ETFB (I82L)	Single nucleotide variant (missense variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 137229	NM_001985.3(ETFB):c.58-96G>A	ETFB (V79I)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 3054917	NM_001985.3(ETFB):c.58-195A>C	ETFB	Single nucleotide variant (synonymous variant +1 more)	ETFB-related disorder	GLikely benign
Select item 137226	NM_001985.3(ETFB):c.58-212A>C	ETFB (E40A)	Single nucleotide variant (missense variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency +3 more	GBenign/Likely benign
Select item 3050122	NM_001985.3(ETFB):c.58-333A>C	ETFB	Single nucleotide variant (5 prime UTR variant +1 more)	ETFB-related disorder	GLikely benign
Select item 1645495	NM_001985.3(ETFB):c.18G>C (p.Val6=)	ETFB	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GLikely benign