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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
STXBP1
(R122* +2 more)
Single nucleotide variant
(nonsense)
Early infantile epileptic encephalopathy with suppression bursts
+10 more
GPathogenic
STXBP1
(P139L +2 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+5 more
GPathogenic/Likely pathogenic
STXBP1
(R190W +2 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+3 more
GPathogenic
STXBP1
(R235* +2 more)
Single nucleotide variant
(nonsense)
STXBP1-related disorders
+3 more
GPathogenic
STXBP1
(R292H +2 more)
Single nucleotide variant
(missense variant +1 more)
Early infantile epileptic encephalopathy with suppression bursts
+3 more
GPathogenic/Likely pathogenic
STXBP1
Single nucleotide variant
(splice donor variant +1 more)
Developmental and epileptic encephalopathy, 4
GPathogenic
STXBP1
(R388* +3 more)
Single nucleotide variant
(nonsense)
Early infantile epileptic encephalopathy with suppression bursts
+3 more
GPathogenic
STXBP1
(R406H +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
STXBP1
(P480L +3 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+3 more
GPathogenic
STXBP1
(R551C +3 more)
Single nucleotide variant
(missense variant)
Developmental disorder
+4 more
GPathogenic
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