C0268596[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 901349	NM_004453.4(ETFDH):c.-61C>T	ETFDH	Single nucleotide variant (5 prime UTR variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 990927	NM_004453.4(ETFDH):c.25T>A (p.Ser9Thr)	ETFDH (S9T)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 195222	NM_004453.4(ETFDH):c.51dup (p.Ala18fs)	ETFDH (A18fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 12028	NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr)	ETFDH (A84T +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 802100	NM_004453.4(ETFDH):c.295C>T (p.Arg99Cys)	ETFDH (R38C +2 more)	Single nucleotide variant (missense variant)	Glutaric acidemia IIc +1 more	GPathogenic/Likely pathogenic
Select item 167041	NM_004453.4(ETFDH):c.381C>T (p.Leu127=)	ETFDH	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 431962	NM_004453.4(ETFDH):c.413T>G (p.Leu138Arg)	ETFDH (L138R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 990930	NM_004453.4(ETFDH):c.424G>A (p.Val142Ile)	ETFDH (V142I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 427131	NM_004453.4(ETFDH):c.463A>G (p.Arg155Gly)	ETFDH (R155G +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 990931	NM_004453.4(ETFDH):c.586C>G (p.Pro196Ala)	ETFDH (P135A +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 666174	NM_004453.4(ETFDH):c.770A>G (p.Tyr257Cys)	ETFDH (Y196C +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 199094	NM_004453.4(ETFDH):c.1001T>C (p.Leu334Pro)	ETFDH (L334P +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 900244	NM_004453.4(ETFDH):c.1004G>C (p.Ser335Thr)	ETFDH (S288T +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 203720	NM_004453.4(ETFDH):c.1073G>A (p.Arg358Lys)	ETFDH (R358K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 645788	NM_004453.4(ETFDH):c.1211T>C (p.Met404Thr)	ETFDH (M343T +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 95071	NM_004453.4(ETFDH):c.1234G>T (p.Glu412Ter)	ETFDH (E412* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 374577	NM_004453.4(ETFDH):c.1366C>T (p.Pro456Ser)	ETFDH (P456S +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 990937	NM_004453.4(ETFDH):c.1378G>A (p.Gly460Arg)	ETFDH (G399R +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 900246	NM_004453.4(ETFDH):c.1483C>T (p.Arg495Trp)	ETFDH (R434W +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 137235	NM_004453.4(ETFDH):c.1533T>C (p.Asp511=)	ETFDH	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 418184	NM_004453.4(ETFDH):c.1601C>T (p.Pro534Leu)	ETFDH (P534L +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 990941	NM_004453.4(ETFDH):c.1603G>T (p.Ala535Ser)	ETFDH (A474S +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 529450	NM_004453.4(ETFDH):c.1733G>A (p.Arg578Gln)	ETFDH (R578Q +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 942497	NM_004453.4(ETFDH):c.1744A>C (p.Asn582His)	ETFDH (N521H +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 235695	NM_004453.4(ETFDH):c.1773_1774del (p.Thr591_Cys592insTer)	ETFDH	Deletion (frameshift variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2597	NM_000126.4(ETFA):c.963+1del	ETFA	Deletion (splice donor variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2594	NM_000126.4(ETFA):c.797C>T (p.Thr266Met)	ETFA (T266M +1 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency +2 more	GPathogenic
Select item 137224	NM_000126.4(ETFA):c.351+17T>C	ETFA	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 989860	NM_000126.4(ETFA):c.197A>G (p.Asp66Gly)	ETFA (D17G +1 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 989861	NM_000126.4(ETFA):c.170G>C (p.Gly57Ala)	ETFA (G57A)	Single nucleotide variant (missense variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 990296	NM_000126.4(ETFA):c.39G>A (p.Ala13=)	ETFA	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 12365	NM_000546.6(TP53):c.733G>A (p.Gly245Ser)	TP53 (G245S +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GPathogenic FDA Recognized database
Select item 137229	NM_001985.3(ETFB):c.58-96G>A	ETFB (V79I)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 590833	NM_001985.3(ETFB):c.58-196_58-194del	ETFB (R47del)	Deletion (inframe_deletion +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 137226	NM_001985.3(ETFB):c.58-212A>C	ETFB (E40A)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign

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Items: 35