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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC12A5
Single nucleotide variant
(splice donor variant)
Developmental and epileptic encephalopathy, 34
Gnot provided
SLC12A5
(A191V +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 34
Gnot provided
SLC12A5
(L311H +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 34
GPathogenic
SLC12A5
(W318S +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 34
Gnot provided
SLC12A5
(S323P +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 34
Gnot provided
SLC12A5
(S376L +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 34
Gnot provided
SLC12A5
(L426P +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 34
GLikely pathogenic
SLC12A5
(M415V +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 34
GUncertain significance
SLC12A5
(G551D +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 34
GLikely pathogenic
SLC12A5
(S748del +1 more)
Microsatellite
(inframe_deletion)
Developmental and epileptic encephalopathy, 34
Gnot provided
SLC12A5
(R857L +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 34
Gnot provided
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