"Baylor Genetics"[submitter] AND "ETHE1"[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2675142	NM_014297.5(ETHE1):c.703C>T (p.Gln235Ter)	ETHE1 (Q112* +3 more)	Single nucleotide variant (nonsense)	Ethylmalonic encephalopathy	GLikely pathogenic
Select item 1722427	NM_014297.5(ETHE1):c.702_703del (p.Gln235fs)	ETHE1 (Q112fs +3 more)	Deletion (frameshift variant)	Ethylmalonic encephalopathy	GPathogenic/Likely pathogenic
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 1936675	NM_014297.5(ETHE1):c.596-1G>A	ETHE1	Single nucleotide variant (splice acceptor variant)	Ethylmalonic encephalopathy	GPathogenic/Likely pathogenic
Select item 1481779	NM_014297.5(ETHE1):c.596-2A>T	ETHE1	Single nucleotide variant (splice acceptor variant)	Ethylmalonic encephalopathy	GLikely pathogenic
Select item 577939	NM_014297.5(ETHE1):c.595+2T>G	ETHE1	Single nucleotide variant (splice donor variant)	Ethylmalonic encephalopathy	GLikely pathogenic
Select item 2675146	NM_014297.5(ETHE1):c.586G>C (p.Asp196His)	ETHE1 (D185H +3 more)	Single nucleotide variant (missense variant)	Ethylmalonic encephalopathy	GLikely pathogenic
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 30725	NM_014297.5(ETHE1):c.554T>G (p.Leu185Arg)	ETHE1 (L185R +3 more)	Single nucleotide variant (missense variant)	Ethylmalonic encephalopathy	GPathogenic
Select item 2675147	NM_014297.5(ETHE1):c.542dup (p.Ile182fs)	ETHE1 (I171fs +3 more)	Duplication (frameshift variant)	Ethylmalonic encephalopathy	GLikely pathogenic
Select item 1494598	NM_014297.5(ETHE1):c.506-2A>G	ETHE1	Single nucleotide variant (splice acceptor variant)	Ethylmalonic encephalopathy	GLikely pathogenic
Select item 496427	NM_014297.5(ETHE1):c.505+1G>A	ETHE1	Single nucleotide variant (splice donor variant)	Ethylmalonic encephalopathy	GPathogenic FDA Recognized database
Select item 3241438	NM_014297.5(ETHE1):c.501del (p.Gln167fs)	ETHE1 (Q156fs +3 more)	Deletion (frameshift variant)	Ethylmalonic encephalopathy	GLikely pathogenic
Select item 3241437	NM_014297.5(ETHE1):c.495del (p.Phe166fs)	ETHE1 (F155fs +3 more)	Deletion (frameshift variant)	Ethylmalonic encephalopathy	GLikely pathogenic
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 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 2317	NM_014297.5(ETHE1):c.487C>T (p.Arg163Trp)	ETHE1 (R163W +3 more)	Single nucleotide variant (missense variant)	Ethylmalonic encephalopathy	GPathogenic FDA Recognized database
Select item 2675145	NM_014297.5(ETHE1):c.388del (p.Arg130fs)	ETHE1 (R119fs +3 more)	Deletion (frameshift variant)	Ethylmalonic encephalopathy	GPathogenic
Select item 2675144	NM_014297.5(ETHE1):c.376-2A>G	ETHE1	Single nucleotide variant (splice acceptor variant)	Ethylmalonic encephalopathy	GLikely pathogenic
Select item 488509	NM_014297.5(ETHE1):c.375+5G>A	ETHE1	Single nucleotide variant (intron variant)	Ethylmalonic encephalopathy	GPathogenic/Likely pathogenic
Select item 2675150	NM_014297.5(ETHE1):c.375+1G>T	ETHE1	Single nucleotide variant (intron variant +1 more)	Ethylmalonic encephalopathy	GLikely pathogenic
Select item 2675149	NM_014297.5(ETHE1):c.312_319del (p.Leu105fs)	ETHE1 (L105fs +1 more)	Deletion (frameshift variant +1 more)	Ethylmalonic encephalopathy	GLikely pathogenic
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 2675140	NM_014297.5(ETHE1):c.227-1G>T	ETHE1	Single nucleotide variant (intron variant +1 more)	Ethylmalonic encephalopathy	GLikely pathogenic
Select item 2440114	NM_014297.5(ETHE1):c.227-2A>C	ETHE1	Single nucleotide variant (intron variant +1 more)	Ethylmalonic encephalopathy	GLikely pathogenic
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 504495	NM_014297.5(ETHE1):c.187C>T (p.Gln63Ter)	ETHE1 (Q63*)	Single nucleotide variant (nonsense +2 more)	Ethylmalonic encephalopathy	GPathogenic/Likely pathogenic
Select item 504493	NM_014297.5(ETHE1):c.131_132del (p.Glu44fs)	ETHE1 (E44fs)	Microsatellite (frameshift variant +2 more)	Ethylmalonic encephalopathy	GPathogenic
Select item 2675148	NM_014297.5(ETHE1):c.82-96_119del	ETHE1	Deletion (intron variant +1 more)	Ethylmalonic encephalopathy	GLikely pathogenic
Select item 934182	NM_014297.5(ETHE1):c.79C>T (p.Gln27Ter)	ETHE1 (Q27*)	Single nucleotide variant (nonsense +1 more)	Ethylmalonic encephalopathy	GPathogenic/Likely pathogenic
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 2675141	NM_014297.5(ETHE1):c.68del (p.Ile23fs)	ETHE1 (I23fs)	Deletion (frameshift variant +1 more)	Ethylmalonic encephalopathy	GLikely pathogenic
Select item 3241439	NM_014297.5(ETHE1):c.56del (p.Ser19fs)	ETHE1 (S19fs)	Deletion (frameshift variant +1 more)	Ethylmalonic encephalopathy	GLikely pathogenic
Select item 2675143	NM_014297.5(ETHE1):c.48_49dup (p.Gly17fs)	ETHE1 (G17fs)	Microsatellite (frameshift variant +1 more)	Ethylmalonic encephalopathy	GLikely pathogenic
Select item 1072741	NM_014297.5(ETHE1):c.43C>T (p.Gln15Ter)	ETHE1 (Q15*)	Single nucleotide variant (nonsense +1 more)	Ethylmalonic encephalopathy	GPathogenic/Likely pathogenic
Select item 374299	NC_000019.9:g.(?_44015589)_(44015719_?)del	ETHE1	Deletion	Ethylmalonic encephalopathy	GPathogenic

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Items: 36