"GeneDx"[submitter] AND "ETHE1"[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60276	GRCh38/hg38 19q13.31(chr19:43303334-43576458)x3	CD177, ETHE1 +18 more	Copy number gain	See cases	GUncertain significance
Select item 145905	GRCh38/hg38 19q13.31(chr19:43338231-43570437)x3	CD177, ETHE1 +14 more	Copy number gain	See cases	GLikely benign
Select item 1260599	NM_014297.5(ETHE1):c.712+199G>A	ETHE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671647	NM_014297.5(ETHE1):c.712+181A>G	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GBenign FDA Recognized database
Select item 1248611	NM_014297.5(ETHE1):c.712+144_712+180del	ETHE1	Deletion (intron variant)	not provided	GBenign
Select item 1175507	NM_014297.5(ETHE1):c.712+154A>G	ETHE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243607	NM_014297.5(ETHE1):c.712+91C>T	ETHE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673475	NM_014297.5(ETHE1):c.712+88G>A	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GBenign FDA Recognized database
Select item 1327828	NM_014297.5(ETHE1):c.605T>G (p.Val202Gly)	ETHE1 (V104G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214325	NM_014297.5(ETHE1):c.602_603del (p.Thr201fs)	ETHE1 (T103fs +3 more)	Microsatellite (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1296935	NM_014297.5(ETHE1):c.596-305dup	ETHE1	Duplication (intron variant)	not provided	GBenign
Select item 1287232	NM_014297.5(ETHE1):c.596-305_596-304dup	ETHE1	Duplication (intron variant)	not provided	GBenign
Select item 1242436	NM_014297.5(ETHE1):c.596-305_596-301dup	ETHE1	Duplication (intron variant)	not provided	GBenign
Select item 1228941	NM_014297.5(ETHE1):c.596-305_596-302dup	ETHE1	Duplication (intron variant)	not provided	GBenign
Select item 1209421	NM_014297.5(ETHE1):c.595+142del	ETHE1	Deletion (intron variant)	not provided	GLikely benign
Select item 1184668	NM_014297.5(ETHE1):c.595+47T>C	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy +1 more	GBenign
Select item 488508	NM_014297.5(ETHE1):c.586G>A (p.Asp196Asn)	ETHE1 (D196N +3 more)	Single nucleotide variant (missense variant)	Ethylmalonic encephalopathy +1 more	GPathogenic/Likely pathogenic
Select item 735716	NM_014297.5(ETHE1):c.585C>T (p.His195=)	ETHE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 517993	NM_014297.5(ETHE1):c.573C>T (p.Ile191=)	ETHE1	Single nucleotide variant (synonymous variant)	Ethylmalonic encephalopathy	GBenign FDA Recognized database
Select item 683858	NM_014297.5(ETHE1):c.506-244C>T	ETHE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202928	NM_014297.5(ETHE1):c.506-286G>C	ETHE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183930	NM_014297.5(ETHE1):c.505+302C>T	ETHE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195002	NM_014297.5(ETHE1):c.505+296G>A	ETHE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671157	NM_014297.5(ETHE1):c.505+264T>G	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GBenign FDA Recognized database
Select item 1214495	NM_014297.5(ETHE1):c.505+183C>T	ETHE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 435094	NM_014297.5(ETHE1):c.494A>G (p.Asp165Gly)	ETHE1 (D165G +3 more)	Single nucleotide variant (missense variant)	Ethylmalonic encephalopathy +1 more	GLikely pathogenic
Select item 214321	NM_014297.5(ETHE1):c.476G>A (p.Arg159His)	ETHE1 (R159H +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 510060	NM_014297.5(ETHE1):c.453C>T (p.Phe151=)	ETHE1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 383519	NM_014297.5(ETHE1):c.379T>C (p.Leu127=)	ETHE1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 379605	NM_014297.5(ETHE1):c.378G>A (p.Ala126=)	ETHE1	Single nucleotide variant (synonymous variant)	Ethylmalonic encephalopathy	GBenign FDA Recognized database
Select item 1188087	NM_014297.5(ETHE1):c.375+257G>C	ETHE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1226371	NM_014297.5(ETHE1):c.375+141T>C	ETHE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192898	NM_014297.5(ETHE1):c.375+50A>C	ETHE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 384980	NM_014297.5(ETHE1):c.375+19C>A	ETHE1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
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 1129307	NM_014297.5(ETHE1):c.357C>T (p.Ser119=)	ETHE1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 214318	NM_014297.5(ETHE1):c.340A>T (p.Ile114Phe)	ETHE1 (I114F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 214324	NM_014297.5(ETHE1):c.278C>T (p.Ser93Phe)	ETHE1 (S93F +1 more)	Single nucleotide variant (missense variant +1 more)	Ethylmalonic encephalopathy +1 more	GUncertain significance
Select item 1687641	NM_014297.5(ETHE1):c.227T>C (p.Val76Ala)	ETHE1 (V76A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 214323	NM_014297.5(ETHE1):c.221dup (p.Tyr74Ter)	ETHE1 (M1fs +1 more)	Duplication (nonsense +3 more)	Ethylmalonic encephalopathy +1 more	GPathogenic
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 705127	NM_014297.5(ETHE1):c.150G>C (p.Leu50=)	ETHE1	Single nucleotide variant (synonymous variant +2 more)	Ethylmalonic encephalopathy +1 more	GLikely benign
Select item 432687	NM_014297.5(ETHE1):c.149T>A (p.Leu50Gln)	ETHE1 (L50Q)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	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 683856	NM_014297.5(ETHE1):c.82-187G>A	ETHE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193209	NM_014297.5(ETHE1):c.81+121G>A	ETHE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204848	NM_014297.5(ETHE1):c.81+26G>T	ETHE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 617791	NM_014297.5(ETHE1):c.79C>A (p.Gln27Lys)	ETHE1 (Q27K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
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 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 2318	NM_014297.5(ETHE1):c.3G>T (p.Met1Ile)	ETHE1, LOC130064595 (M1I)	Single nucleotide variant (missense variant +2 more)	Ethylmalonic encephalopathy +1 more	GPathogenic
Select item 384566	NM_014297.5(ETHE1):c.-20C>T	ETHE1, LOC130064595	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 381027	NM_014297.5(ETHE1):c.-24A>C	ETHE1, LOC130064595	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 329446	NM_014297.4(ETHE1):c.-41G>A	ETHE1, LOC130064595	Single nucleotide variant	Ethylmalonic encephalopathy +1 more	GBenign
Select item 137239	NM_014297.5(ETHE1):c.-45G>A	ETHE1, LOC130064595	Single nucleotide variant	not provided +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 329450	NM_014297.5(ETHE1):c.-62C>G	ETHE1, LOC130064595	Single nucleotide variant	Ethylmalonic encephalopathy +1 more	GBenign/Likely benign
Select item 1254566	NC_000019.10:g.43527391del	ETHE1	Deletion	not provided	GLikely benign
Select item 1260822	NC_000019.10:g.43527402GA[1]	ETHE1	Microsatellite	not provided	GBenign
Select item 253540	GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	APOC1, APOC2 +120 more	Copy number loss	See cases	GPathogenic

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Items: 61