C1865349[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 36