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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
STXBP1
(R292H +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
STXBP1
(R388* +3 more)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy, 4
+3 more
GPathogenic
STXBP1
(R406H +3 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
STXBP1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 4
GLikely pathogenic
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