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Items: 1 to 100 of 583

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC13A5
Single nucleotide variant
(stop lost)
Developmental and epileptic encephalopathy, 25
GUncertain significance
SLC13A5
Microsatellite
(nonsense)
Developmental and epileptic encephalopathy, 25
+1 more
GUncertain significance
SLC13A5
(T518I +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 25
GUncertain significance
SLC13A5
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 25
GLikely benign
SLC13A5
(V517M +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 25
GUncertain significance
SLC13A5
(P558L +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 25
GUncertain significance
SLC13A5
(R503Q +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 25
+1 more
GUncertain significance
SLC13A5
(R532W +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 25
GUncertain significance
SLC13A5
(G531E +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 25
GUncertain significance
SLC13A5
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 25
GLikely benign
SLC13A5
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
SLC13A5
(A543D +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 25
GUncertain significance
SLC13A5
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 25
GLikely benign
SLC13A5
(F495C +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 25
GUncertain significance
SLC13A5
(F495S +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 25
GUncertain significance
SLC13A5
(C493R +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 25
GUncertain significance
SLC13A5
(G490R +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 25
GUncertain significance
SLC13A5
(I488M +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SLC13A5
(I491V +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 25
GUncertain significance
SLC13A5
(N490K +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 25
GUncertain significance
SLC13A5
(I488V +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 25
GUncertain significance
SLC13A5
(G486R +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 25
GUncertain significance
SLC13A5
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 25
+2 more
GLikely benign
SLC13A5
(T528A +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SLC13A5
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
SLC13A5
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
SLC13A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 25
GLikely benign
SLC13A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 25
GLikely benign
SLC13A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 25
GLikely benign
SLC13A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 25
GLikely benign
SLC13A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 25
GUncertain significance
SLC13A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 25
GUncertain significance
SLC13A5
(M525L +2 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 25
GUncertain significance
SLC13A5
(V479I +2 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 25
GUncertain significance
SLC13A5
Single nucleotide variant
(synonymous variant +1 more)
Developmental and epileptic encephalopathy, 25
GLikely benign
SLC13A5
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+1 more
GLikely benign
SLC13A5
(L520F +2 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 25
GUncertain significance
SLC13A5
(V471A +2 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 25
GUncertain significance
SLC13A5
(V471M +2 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 25
GUncertain significance
SLC13A5
Single nucleotide variant
(synonymous variant +1 more)
Developmental and epileptic encephalopathy, 25
GLikely benign
SLC13A5
Single nucleotide variant
(synonymous variant +1 more)
Developmental and epileptic encephalopathy, 25
GLikely benign
SLC13A5
Single nucleotide variant
(synonymous variant +1 more)
Developmental and epileptic encephalopathy, 25
GLikely benign
SLC13A5
(A464S +2 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 25
GUncertain significance
SLC13A5
(P488L +2 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 25
GConflicting classifications of pathogenicity
SLC13A5
(L461fs +2 more)
Deletion
(frameshift variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
SLC13A5
Single nucleotide variant
(synonymous variant +1 more)
Developmental and epileptic encephalopathy, 25
GLikely benign
SLC13A5
(M486T +2 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 25
GUncertain significance
SLC13A5
Single nucleotide variant
(synonymous variant +1 more)
Developmental and epileptic encephalopathy, 25
GLikely benign
SLC13A5
Single nucleotide variant
(synonymous variant +1 more)
Developmental and epileptic encephalopathy, 25
GLikely benign
SLC13A5
Deletion
(inframe_deletion +1 more)
Developmental and epileptic encephalopathy, 25
GUncertain significance
SLC13A5
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+1 more
GLikely benign
SLC13A5
(T478I +2 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 25
+1 more
GUncertain significance
SLC13A5
(L475fs +2 more)
Deletion
(frameshift variant +1 more)
Developmental and epileptic encephalopathy, 25
GPathogenic
SLC13A5
(M448L +2 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 25
GUncertain significance
SLC13A5
(L445M +2 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 25
GUncertain significance
SLC13A5
Single nucleotide variant
(synonymous variant +1 more)
Developmental and epileptic encephalopathy, 25
+1 more
GLikely benign
SLC13A5
(P444L +2 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 25
+1 more
GUncertain significance
SLC13A5
(N486S +2 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 25
GUncertain significance
SLC13A5
(L442R +2 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 25
GUncertain significance
SLC13A5
(L442P +2 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 25
GUncertain significance
SLC13A5
(G484S +2 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 25
GUncertain significance
SLC13A5
Single nucleotide variant
(synonymous variant +1 more)
Developmental and epileptic encephalopathy, 25
GLikely benign
SLC13A5
(I483V +2 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 25
GUncertain significance
SLC13A5
(S439F +2 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 25
GUncertain significance
SLC13A5
(R438H +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
SLC13A5
(R438C +2 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 25
GUncertain significance
SLC13A5
(S463P +2 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 25
GUncertain significance
SLC13A5
Single nucleotide variant
(splice acceptor variant +1 more)
Developmental and epileptic encephalopathy, 25
GLikely pathogenic
SLC13A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 25
GUncertain significance
SLC13A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 25
GUncertain significance
SLC13A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 25
+1 more
GLikely benign
SLC13A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 25
GLikely benign
SLC13A5
Deletion
(intron variant)
Developmental and epileptic encephalopathy, 25
GLikely benign
SLC13A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 25
GLikely benign
SLC13A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 25
GLikely benign
SLC13A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 25
GLikely benign
SLC13A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 25
GLikely benign
SLC13A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 25
GLikely benign
SLC13A5
Deletion
(intron variant)
not specified
+1 more
GLikely benign
SLC13A5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 25
GLikely benign
SLC13A5
(M436I +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 25
GUncertain significance
SLC13A5
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 25
GLikely benign
SLC13A5
(I458V +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 25
GUncertain significance
SLC13A5
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 25
GLikely benign
SLC13A5
(P474S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SLC13A5
(F429L +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 25
GUncertain significance
SLC13A5
(L428fs +2 more)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 25
GPathogenic
SLC13A5
(L471V +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 25
GUncertain significance
SLC13A5
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 25
GLikely benign
SLC13A5
(T426A +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 25
GUncertain significance
SLC13A5
(T468N +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 25
GUncertain significance
SLC13A5
(V423M +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SLC13A5
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
SLC13A5
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 25
GLikely benign
SLC13A5
(T460N +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 25
GLikely pathogenic
SLC13A5
(V458M +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 25
+2 more
GConflicting classifications of pathogenicity
SLC13A5
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 25
GLikely benign
SLC13A5
(V456I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
SLC13A5
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 25
+1 more
GLikely benign
SLC13A5
(L412F +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 25
GUncertain significance
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