"Baylor Genetics"[submitter] AND "ETFB"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2675094	NM_001985.3(ETFB):c.671_672del (p.Val224fs)	ETFB (V224fs +1 more)	Microsatellite (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 808634	NM_001985.3(ETFB):c.598-1del	ETFB	Deletion (splice acceptor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1409823	NM_001985.3(ETFB):c.571C>T (p.Arg191Cys)	ETFB (R191C +1 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GConflicting classifications of pathogenicity
Select item 16716	NM_001985.3(ETFB):c.491G>A (p.Arg164Gln)	ETFB (R164Q +1 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 1454900	NM_001985.3(ETFB):c.490C>T (p.Arg164Trp)	ETFB (R255W +1 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 2675091	NM_001985.3(ETFB):c.406C>T (p.Gln136Ter)	ETFB (Q136* +1 more)	Single nucleotide variant (nonsense)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 16718	NM_001985.3(ETFB):c.382G>A (p.Asp128Asn)	ETFB (D128N +1 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GConflicting classifications of pathogenicity
Select item 2675093	NM_001985.3(ETFB):c.375+1G>C	ETFB	Single nucleotide variant (splice donor variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 1030500	NM_001985.3(ETFB):c.274C>T (p.Pro92Ser)	ETFB (P183S +1 more)	Single nucleotide variant (missense variant)	Glutaric acidemia IIc +1 more	GConflicting classifications of pathogenicity
Select item 969590	NM_001985.3(ETFB):c.253C>T (p.Arg85Ter)	ETFB (R176* +1 more)	Single nucleotide variant (nonsense)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 2675095	NM_001985.3(ETFB):c.208del (p.Gln70fs)	ETFB (Q161fs +1 more)	Deletion (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2675090	NM_001985.3(ETFB):c.163A>T (p.Lys55Ter)	ETFB (K146* +1 more)	Single nucleotide variant (nonsense)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2675097	NM_001985.3(ETFB):c.124T>C (p.Cys42Arg)	ETFB (C133R +1 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 2675098	NM_001985.3(ETFB):c.94del (p.Asp32fs)	ETFB (D123fs +1 more)	Deletion (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2675096	NM_001985.3(ETFB):c.61del (p.Arg21fs)	ETFB (R112fs +1 more)	Deletion (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 2675092	NM_001985.3(ETFB):c.61C>T (p.Arg21Ter)	ETFB (R112* +1 more)	Single nucleotide variant (nonsense)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 2442140	NM_001985.3(ETFB):c.58-27C>T	ETFB (P102S)	Single nucleotide variant (missense variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 1028938	NM_001985.3(ETFB):c.58-87A>C	ETFB (I82L)	Single nucleotide variant (missense variant +1 more)	ETFB-related condition +1 more	GUncertain significance
Select item 2675089	NM_001985.3(ETFB):c.32dup (p.Arg12fs)	ETFB (R12fs)	Duplication (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic