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Links from MedGen

Items: 1 to 100 of 185

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
STXBP1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 4
GLikely benign
STXBP1
(V355I +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 4
GUncertain significance
STXBP1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 4
GPathogenic
STXBP1
(Y518* +3 more)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy, 4
GLikely pathogenic
STXBP1
(Q236K +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 4
GUncertain significance
STXBP1
(R428G +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 4
GLikely pathogenic
STXBP1
(L410P +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 4
GUncertain significance
STXBP1
Single nucleotide variant
(splice donor variant)
Developmental and epileptic encephalopathy, 4
GLikely pathogenic
STXBP1
(Y518S +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 4
GLikely pathogenic
STXBP1
(V509G +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 4
GUncertain significance
STXBP1
(I449T +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 4
GPathogenic
STXBP1
Single nucleotide variant
(splice donor variant)
Developmental and epileptic encephalopathy, 4
GPathogenic
STXBP1
Deletion
Developmental and epileptic encephalopathy, 4
GPathogenic
STXBP1
(M280fs +3 more)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 4
GLikely pathogenic
STXBP1
(D137fs +2 more)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 4
GLikely pathogenic
STXBP1
(L458fs +3 more)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 4
GPathogenic
STXBP1
(A185V +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 4
Gnot provided
STXBP1
(T476fs +3 more)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 4
GLikely pathogenic
STXBP1
(P464fs +3 more)
Duplication
(frameshift variant)
Developmental and epileptic encephalopathy, 4
GPathogenic
STXBP1
(H535N +2 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 4
GUncertain significance
STXBP1
(A517D +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 4
GUncertain significance
STXBP1
(Q300H +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 4
GUncertain significance
STXBP1
(P203S +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 4
GUncertain significance
STXBP1
(A163V +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 4
GUncertain significance
LOC130002651, STXBP1
(I4V)
Single nucleotide variant
(missense variant +2 more)
Developmental and epileptic encephalopathy, 4
GUncertain significance
LOC130002651, STXBP1
(M1K)
Single nucleotide variant
(missense variant +3 more)
Developmental and epileptic encephalopathy, 4
GUncertain significance
STXBP1
(L22* +1 more)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy, 4
GLikely pathogenic
STXBP1
(I19T +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 4
GUncertain significance
STXBP1
(Q21fs +1 more)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 4
GPathogenic
STXBP1
(L244V +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 4
+1 more
GConflicting classifications of pathogenicity
MIR3911, STXBP1
(I558M +2 more)
Single nucleotide variant
(non-coding transcript variant +3 more)
Developmental and epileptic encephalopathy, 4
GLikely benign
STXBP1
(T115fs +2 more)
Indel
(frameshift variant)
Developmental and epileptic encephalopathy, 4
GPathogenic
STXBP1
Single nucleotide variant
(splice acceptor variant)
Developmental and epileptic encephalopathy, 4
GPathogenic
STXBP1
(L217fs +2 more)
Indel
(frameshift variant)
Developmental and epileptic encephalopathy, 4
GLikely pathogenic
STXBP1
Single nucleotide variant
(splice acceptor variant)
Developmental and epileptic encephalopathy, 4
GPathogenic
STXBP1
(Q236E +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 4
GLikely pathogenic
STXBP1
(D193G +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 4
GLikely pathogenic
STXBP1
(A517P +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 4
GLikely pathogenic
STXBP1
(D220G +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 4
GLikely pathogenic
STXBP1
Single nucleotide variant
(splice donor variant)
Developmental and epileptic encephalopathy, 4
GPathogenic/Likely pathogenic
STXBP1
(L410F +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 4
GPathogenic
STXBP1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 4
GLikely pathogenic
STXBP1
Single nucleotide variant
(splice acceptor variant)
Developmental and epileptic encephalopathy, 4
GPathogenic
STXBP1
Single nucleotide variant
(splice acceptor variant +1 more)
Developmental and epileptic encephalopathy, 4
+1 more
GPathogenic
STXBP1
(Q522fs +3 more)
Indel
(frameshift variant)
Developmental and epileptic encephalopathy, 4
GPathogenic
STXBP1
(Q334* +3 more)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy, 4
GPathogenic
STXBP1
Single nucleotide variant
(splice acceptor variant +1 more)
Developmental and epileptic encephalopathy, 4
GPathogenic
STXBP1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 4
GUncertain significance
STXBP1
Single nucleotide variant
(splice donor variant)
Developmental and epileptic encephalopathy, 4
GPathogenic
STXBP1
(C96R +1 more)
Single nucleotide variant
(missense variant +1 more)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GLikely pathogenic
STXBP1
(L312P +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 4
GLikely pathogenic
STXBP1
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 4
GUncertain significance
STXBP1
(S286fs +2 more)
Deletion
(frameshift variant +1 more)
Developmental and epileptic encephalopathy, 4
GPathogenic
STXBP1
(I43T +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 4
GUncertain significance
LOC130002651, STXBP1
Single nucleotide variant
(intron variant +1 more)
Developmental and epileptic encephalopathy, 4
GPathogenic
STXBP1
(K296fs +3 more)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 4
GLikely pathogenic
STXBP1
(H462fs +3 more)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 4
GLikely pathogenic
STXBP1
(H231N +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 4
GPathogenic
STXBP1
(M450R +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 4
GLikely pathogenic
STXBP1
Deletion
(splice acceptor variant)
Developmental and epileptic encephalopathy, 4
GPathogenic
STXBP1
(L374del +3 more)
Deletion
(inframe_deletion)
Developmental and epileptic encephalopathy, 4
GPathogenic
STXBP1
(L27R +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 4
GPathogenic
STXBP1
(L273P +2 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 4
GLikely pathogenic
STXBP1
(C31del +1 more)
Microsatellite
(inframe_deletion)
Developmental and epileptic encephalopathy, 4
GUncertain significance
STXBP1
(T117M +2 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+2 more
GBenign/Likely benign
STXBP1
(C516Y +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 4
+1 more
GPathogenic/Likely pathogenic
STXBP1
(V326I +3 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
LOC130002651, STXBP1
(V9fs)
Indel
(intron variant +2 more)
Developmental and epileptic encephalopathy, 4
GPathogenic
STXBP1
(Q392* +3 more)
Single nucleotide variant
(nonsense)
Early infantile epileptic encephalopathy with suppression bursts
GPathogenic
STXBP1
Single nucleotide variant
(intron variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GUncertain significance
STXBP1
(D35fs +1 more)
Microsatellite
(frameshift variant)
Developmental and epileptic encephalopathy, 4
+1 more
GPathogenic/Likely pathogenic
STXBP1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 4
GLikely pathogenic
STXBP1
(D248V +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 4
GLikely pathogenic
STXBP1
(G381R +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 4
GPathogenic
STXBP1
(K488* +3 more)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy, 4
GPathogenic
STXBP1
(P173L +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
STXBP1
Single nucleotide variant
(splice donor variant)
Developmental and epileptic encephalopathy, 4
GPathogenic
AK1, ANGPTL2
+27 more
Copy number loss
Developmental and epileptic encephalopathy, 4
+1 more
GPathogenic
STXBP1
(G508C +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
STXBP1
(I396K +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 4
GUncertain significance
STXBP1
(N152S +2 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GUncertain significance
STXBP1
(L390R +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 4
+1 more
GLikely pathogenic
STXBP1
(K111fs +2 more)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 4
GPathogenic
STXBP1
(A102V +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 4
GUncertain significance
STXBP1
Single nucleotide variant
(intron variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GConflicting classifications of pathogenicity
STXBP1
(K194fs +2 more)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 4
GLikely pathogenic
STXBP1
Single nucleotide variant
(splice donor variant)
Developmental and epileptic encephalopathy, 4
GLikely pathogenic
STXBP1
Single nucleotide variant
(splice donor variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GPathogenic
STXBP1
(R464fs +3 more)
Duplication
(frameshift variant)
Developmental and epileptic encephalopathy, 4
GPathogenic
STXBP1
(C516* +3 more)
Single nucleotide variant
(nonsense)
Early infantile epileptic encephalopathy with suppression bursts
GPathogenic
STXBP1
(D76H +1 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GConflicting classifications of pathogenicity
CFAP157, PTRH1
+2 more
Copy number loss
Developmental and epileptic encephalopathy, 4
GPathogenic
STXBP1
Single nucleotide variant
(splice donor variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
STXBP1
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
LOC130002651, STXBP1
Duplication
(splice donor variant +1 more)
Developmental and epileptic encephalopathy, 4
GPathogenic/Likely pathogenic
STXBP1
(D248Y +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 4
GLikely pathogenic
STXBP1
(V144F +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
STXBP1
(E527* +3 more)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy, 4
GPathogenic
STXBP1
Deletion
(splice acceptor variant +1 more)
Developmental and epileptic encephalopathy, 4
GPathogenic
STXBP1
(L87fs +1 more)
Microsatellite
(frameshift variant)
Developmental and epileptic encephalopathy, 4
+1 more
GPathogenic/Likely pathogenic
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