Related gene-specific medical variations for Gene (Select 2109) - ClinVar

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Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248432	NC_000019.9:g.(?_51848465)_(51850332_?)del	ETFB	Deletion	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 3248431	NC_000019.9:g.(?_51850134)_(51869580_?)del	ETFB	Deletion	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 3248430	NC_000019.9:g.(?_51869504)_(51869580_?)del	ETFB	Deletion	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 3241422	NM_001985.3(ETFB):c.59_63dup	ETFB (V113fs)	Duplication (frameshift variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3241421	NM_001985.3(ETFB):c.376-2A>C	ETFB	Single nucleotide variant (splice acceptor variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3241420	NM_001985.3(ETFB):c.341_342delinsT (p.Lys114fs)	ETFB (K114fs +1 more)	Indel (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3065010	NM_001985.3(ETFB):c.564C>A (p.Asn188Lys)	ETFB (N188K +1 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
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 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 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 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 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 2675089	NM_001985.3(ETFB):c.32dup (p.Arg12fs)	ETFB (R12fs)	Duplication (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely 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 1322834	NM_001985.3(ETFB):c.284_293del (p.Glu95fs)	ETFB (E186fs +1 more)	Deletion (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 808635	NM_001985.3(ETFB):c.236T>C (p.Leu79Pro)	ETFB (L79P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 800736	Single allele	ETFB	Insertion	not provided +1 more	GPathogenic
Select item 592038	NM_001985.3(ETFB):c.373C>G (p.Gln125Glu)	ETFB (Q125E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 592001	NM_001985.3(ETFB):c.58-53_58-52insG	ETFB (P94fs)	Insertion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 591394	NM_001985.3(ETFB):c.376-2A>G	ETFB	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance

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Links from Gene

Items: 20