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Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130002651, STXBP1
Single nucleotide variant
(synonymous variant +2 more)
Inborn genetic diseases
+4 more
GBenign/Likely benign
STXBP1
Single nucleotide variant
(splice donor variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GPathogenic/Likely pathogenic
STXBP1
Single nucleotide variant
(intron variant)
Early infantile epileptic encephalopathy with suppression bursts
+2 more
GBenign/Likely benign
STXBP1
Single nucleotide variant
(intron variant)
Early infantile epileptic encephalopathy with suppression bursts
+3 more
GBenign/Likely benign
STXBP1
(R122* +2 more)
Single nucleotide variant
(nonsense)
Early infantile epileptic encephalopathy with suppression bursts
+10 more
GPathogenic
STXBP1
(N134fs +2 more)
Deletion
(frameshift variant)
not provided
GPathogenic
STXBP1
(L183P +2 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GUncertain significance
STXBP1
(R235Q +2 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+2 more
GPathogenic
STXBP1
Single nucleotide variant
(splice donor variant)
Developmental and epileptic encephalopathy, 4
+2 more
GPathogenic
STXBP1
Single nucleotide variant
(synonymous variant +1 more)
STXBP1-related condition
+4 more
GBenign/Likely benign
STXBP1
Single nucleotide variant
(intron variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GBenign
STXBP1
(P335L +3 more)
Single nucleotide variant
(missense variant)
STXBP1-related neurodevelopmental disorder
+2 more
GConflicting classifications of pathogenicity
STXBP1
Single nucleotide variant
(splice donor variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GPathogenic
STXBP1
(R406H +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
STXBP1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
STXBP1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
STXBP1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
STXBP1
(W478C +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
STXBP1
(I485N +3 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
STXBP1
Deletion
(intron variant)
Early infantile epileptic encephalopathy with suppression bursts
+3 more
GBenign/Likely benign
STXBP1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
STXBP1
Single nucleotide variant
(synonymous variant +1 more)
Early infantile epileptic encephalopathy with suppression bursts
+2 more
GConflicting classifications of pathogenicity
STXBP1
(M602V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GBenign/Likely benign
STXBP1
(E603* +2 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
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