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Links from Gene

Items: 28

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ETHE1
Deletion
Ethylmalonic encephalopathy
GPathogenic
ETHE1
Deletion
Ethylmalonic encephalopathy
GPathogenic
ETHE1
Deletion
Ethylmalonic encephalopathy
GPathogenic
ETHE1
(S19fs)
Deletion
(frameshift variant +1 more)
Ethylmalonic encephalopathy
GLikely pathogenic
ETHE1
(Q156fs +3 more)
Deletion
(frameshift variant)
Ethylmalonic encephalopathy
GLikely pathogenic
ETHE1
(F155fs +3 more)
Deletion
(frameshift variant)
Ethylmalonic encephalopathy
GLikely pathogenic
ETHE1, LOC130064595
Single nucleotide variant
(synonymous variant +1 more)
Ethylmalonic encephalopathy
GLikely benign
ETHE1, LOC130064595
(M1L)
Single nucleotide variant
(missense variant +2 more)
Ethylmalonic encephalopathy
GPathogenic
ETHE1
Single nucleotide variant
(intron variant +1 more)
Ethylmalonic encephalopathy
GLikely pathogenic
ETHE1
(L105fs +1 more)
Deletion
(frameshift variant +1 more)
Ethylmalonic encephalopathy
GLikely pathogenic
ETHE1
Deletion
(intron variant +1 more)
Ethylmalonic encephalopathy
GLikely pathogenic
ETHE1
(I171fs +3 more)
Duplication
(frameshift variant)
Ethylmalonic encephalopathy
GLikely pathogenic
ETHE1
Single nucleotide variant
(splice acceptor variant)
Ethylmalonic encephalopathy
GLikely pathogenic
ETHE1
(G17fs)
Microsatellite
(frameshift variant +1 more)
Ethylmalonic encephalopathy
GLikely pathogenic
ETHE1
(Q112* +3 more)
Single nucleotide variant
(nonsense)
Ethylmalonic encephalopathy
GLikely pathogenic
ETHE1
(I23fs)
Deletion
(frameshift variant +1 more)
Ethylmalonic encephalopathy
GLikely pathogenic
ETHE1
Single nucleotide variant
(intron variant +1 more)
Ethylmalonic encephalopathy
GLikely pathogenic
ETHE1, LOC130064595
(M1K)
Single nucleotide variant
(missense variant +2 more)
Ethylmalonic encephalopathy
GPathogenic
ETHE1, LOC130064595
(A4V)
Single nucleotide variant
(missense variant +1 more)
Ethylmalonic encephalopathy
GUncertain significance
ETHE1
(Y181* +3 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
ETHE1, LOC130064595
(A4G)
Single nucleotide variant
(5 prime UTR variant +1 more)
Ethylmalonic encephalopathy
GUncertain significance
ETHE1, LOC130064595
(V5fs)
Duplication
(frameshift variant +1 more)
Ethylmalonic encephalopathy
GPathogenic
ETHE1, LOC130064595
(M1T)
Single nucleotide variant
(missense variant +2 more)
Ethylmalonic encephalopathy
GPathogenic/Likely pathogenic
ETHE1, LOC130064595
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
ETHE1, LOC130064595
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
ETHE1, LOC130064595
Single nucleotide variant
(synonymous variant +1 more)
Ethylmalonic encephalopathy
GConflicting classifications of pathogenicity
ETHE1, LOC130064595
Single nucleotide variant
(synonymous variant +1 more)
Ethylmalonic encephalopathy
GBenign
ETHE1, LOC130064595
(M1I)
Single nucleotide variant
(missense variant +2 more)
Ethylmalonic encephalopathy
+1 more
GPathogenic
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