"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "ETFDH"[gen - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1019560	NM_004453.4(ETFDH):c.152G>A (p.Arg51Gln)	ETFDH (R51Q)	Single nucleotide variant (missense variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1298973	NM_004453.4(ETFDH):c.175+1del	ETFDH	Deletion (splice donor variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 809697	NM_004453.4(ETFDH):c.241C>T (p.Leu81Phe)	ETFDH (L34F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1695115	NM_004453.4(ETFDH):c.626G>A (p.Gly209Asp)	ETFDH (G148D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 902803	NM_004453.4(ETFDH):c.731T>C (p.Phe244Ser)	ETFDH (F183S +2 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1632045	NM_004453.4(ETFDH):c.768A>G (p.Leu256=)	ETFDH	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 374576	NM_004453.4(ETFDH):c.1303T>C (p.Tyr435His)	ETFDH (Y435H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 765312	NM_004453.4(ETFDH):c.1344A>G (p.Leu448=)	ETFDH	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 374577	NM_004453.4(ETFDH):c.1366C>T (p.Pro456Ser)	ETFDH (P456S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 31602	NM_004453.4(ETFDH):c.1448C>T (p.Pro483Leu)	ETFDH (P483L +2 more)	Single nucleotide variant (missense variant)	Acyl-CoA dehydrogenase deficiency, glutaric acidemia type II +2 more	GPathogenic/Likely pathogenic
Select item 916263	NM_004453.4(ETFDH):c.1513A>G (p.Ile505Val)	ETFDH (I505V +2 more)	Single nucleotide variant (missense variant)	not provided	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 809698	NM_004453.4(ETFDH):c.1571T>C (p.Leu524Pro)	ETFDH (L477P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1507657	NM_004453.4(ETFDH):c.1586A>G (p.His529Arg)	ETFDH (H468R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 991938	NM_004453.4(ETFDH):c.1692A>T (p.Gly564=)	ETFDH	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 235695	NM_004453.4(ETFDH):c.1773_1774del (p.Thr591_Cys592insTer)	ETFDH	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2583025	NM_004453.4(ETFDH):c.1818T>C (p.Pro606=)	ETFDH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	TMA16, CXCL1 +537 more	Copy number gain	not provided	GPathogenic