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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
STXBP1
(V144F +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 4
+1 more
GConflicting classifications of pathogenicity
STXBP1
(D248Y +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 4
GLikely pathogenic
STXBP1
(R406L +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
STXBP1
(E527* +3 more)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy, 4
GPathogenic
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