"Illumina Laboratory Services, Illumina"[submitter] AND "ETHE1"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 894208	NM_014297.5(ETHE1):c.*92A>C	ETHE1	Single nucleotide variant (3 prime UTR variant)	Ethylmalonic encephalopathy	GUncertain significance
Select item 329439	NM_014297.5(ETHE1):c.*55G>T	ETHE1	Single nucleotide variant (3 prime UTR variant)	Ethylmalonic encephalopathy	GBenign FDA Recognized database
Select item 894209	NM_014297.5(ETHE1):c.*48G>A	ETHE1	Single nucleotide variant (3 prime UTR variant)	Ethylmalonic encephalopathy	GUncertain significance
Select item 329440	NM_014297.5(ETHE1):c.*31A>G	ETHE1	Single nucleotide variant (3 prime UTR variant)	Ethylmalonic encephalopathy	GUncertain significance
Select item 894210	NM_014297.5(ETHE1):c.725C>T (p.Pro242Leu)	ETHE1 (P119L +3 more)	Single nucleotide variant (missense variant)	Ethylmalonic encephalopathy	GUncertain significance
Select item 894211	NM_014297.5(ETHE1):c.535C>T (p.His179Tyr)	ETHE1 (H168Y +3 more)	Single nucleotide variant (missense variant)	Ethylmalonic encephalopathy	GConflicting classifications of pathogenicity
Select item 894614	NM_014297.5(ETHE1):c.505+5C>T	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GUncertain significance
Select item 765706	NM_014297.5(ETHE1):c.489G>A (p.Arg163=)	ETHE1	Single nucleotide variant (synonymous variant)	Ethylmalonic encephalopathy +1 more	GConflicting classifications of pathogenicity
Select item 214322	NM_014297.5(ETHE1):c.488G>A (p.Arg163Gln)	ETHE1 (R163Q +3 more)	Single nucleotide variant (missense variant)	Ethylmalonic encephalopathy	GPathogenic FDA Recognized database
Select item 329441	NM_014297.5(ETHE1):c.376-5G>C	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GConflicting classifications of pathogenicity
Select item 329442	NM_014297.5(ETHE1):c.371G>T (p.Arg124Leu)	ETHE1 (R124L +1 more)	Single nucleotide variant (missense variant +1 more)	Ethylmalonic encephalopathy	GUncertain significance FDA Recognized database
Select item 329443	NM_014297.5(ETHE1):c.317G>C (p.Ser106Thr)	ETHE1 (S106T +1 more)	Single nucleotide variant (missense variant +1 more)	Ethylmalonic encephalopathy	GUncertain significance
Select item 214319	NM_014297.5(ETHE1):c.281T>C (p.Leu94Pro)	ETHE1 (L94P +1 more)	Single nucleotide variant (missense variant +1 more)	Ethylmalonic encephalopathy	GUncertain significance
Select item 214324	NM_014297.5(ETHE1):c.278C>T (p.Ser93Phe)	ETHE1 (S93F +1 more)	Single nucleotide variant (missense variant +1 more)	ETHE1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 137237	NM_014297.5(ETHE1):c.227-9C>G	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GBenign FDA Recognized database
Select item 329444	NM_014297.5(ETHE1):c.197A>G (p.Lys66Arg)	ETHE1 (K66R)	Single nucleotide variant (missense variant +2 more)	Ethylmalonic encephalopathy	GUncertain significance FDA Recognized database
Select item 214317	NM_014297.5(ETHE1):c.184G>A (p.Ala62Thr)	ETHE1 (A62T)	Single nucleotide variant (missense variant +2 more)	Ethylmalonic encephalopathy +2 more	GConflicting classifications of pathogenicity
Select item 892591	NM_014297.5(ETHE1):c.138G>A (p.Arg46=)	ETHE1	Single nucleotide variant (synonymous variant +2 more)	Ethylmalonic encephalopathy	GUncertain significance
Select item 892592	NM_014297.5(ETHE1):c.132G>T (p.Glu44Asp)	ETHE1 (E44D)	Single nucleotide variant (missense variant +2 more)	Ethylmalonic encephalopathy	GUncertain significance
Select item 559210	NM_014297.5(ETHE1):c.115C>G (p.Leu39Val)	ETHE1 (L39V)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 137240	NM_014297.5(ETHE1):c.61G>T (p.Ala21Ser)	ETHE1 (A21S)	Single nucleotide variant (missense variant +1 more)	Ethylmalonic encephalopathy	GBenign FDA Recognized database
Select item 329445	NM_014297.5(ETHE1):c.9G>A (p.Glu3=)	ETHE1, LOC130064595	Single nucleotide variant (synonymous variant +1 more)	Ethylmalonic encephalopathy	GConflicting classifications of pathogenicity
Select item 260385	NM_014297.5(ETHE1):c.6G>A (p.Ala2=)	ETHE1, LOC130064595	Single nucleotide variant (synonymous variant +1 more)	Ethylmalonic encephalopathy	GBenign FDA Recognized database
Select item 632313	NM_014297.5(ETHE1):c.2T>C (p.Met1Thr)	ETHE1, LOC130064595 (M1T)	Single nucleotide variant (missense variant +2 more)	Ethylmalonic encephalopathy	GConflicting classifications of pathogenicity
Select item 329446	NM_014297.4(ETHE1):c.-41G>A	ETHE1, LOC130064595	Single nucleotide variant	not provided +1 more	GBenign
Select item 137239	NM_014297.5(ETHE1):c.-45G>A	LOC130064595, ETHE1	Single nucleotide variant	not specified +2 more	GConflicting classifications of pathogenicity
Select item 137238	NM_014297.5(ETHE1):c.-47C>T	ETHE1, LOC130064595	Single nucleotide variant	not specified +1 more	GConflicting classifications of pathogenicity
Select item 329447	NM_014297.4(ETHE1):c.-52G>C	ETHE1, LOC130064595	Single nucleotide variant	Ethylmalonic encephalopathy	GUncertain significance
Select item 329448	NM_014297.4(ETHE1):c.-53C>T	ETHE1, LOC130064595	Single nucleotide variant	Ethylmalonic encephalopathy	GUncertain significance
Select item 329449	NM_014297.4(ETHE1):c.-58G>T	ETHE1, LOC130064595	Single nucleotide variant	Ethylmalonic encephalopathy	GUncertain significance
Select item 329450	NM_014297.5(ETHE1):c.-62C>G	ETHE1, LOC130064595	Single nucleotide variant	Ethylmalonic encephalopathy +1 more	GBenign/Likely benign

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Items: 31