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Items: 37

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN8A
(F210S)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 13
Gnot provided
SCN8A
(G214D)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
SCN8A
(N215D)
Single nucleotide variant
(missense variant +1 more)
Early infantile epileptic encephalopathy with suppression bursts
GPathogenic
SCN8A
(V216D)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 13
Gnot provided
SCN8A
(R223G)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 13
GPathogenic
SCN8A
(F260S)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GPathogenic
SCN8A
(L407F)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 13
Gnot provided
SCN8A
(V410L)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 13
Gnot provided
SCN8A
(R530W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SCN8A
(T668I)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
SCN8A
(F846S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
SCN8A
(R850Q)
Single nucleotide variant
(missense variant)
Cognitive impairment with or without cerebellar ataxia
+6 more
GConflicting classifications of pathogenicity
SCN8A
(L875Q)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 13
Gnot provided
SCN8A
(A890T)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 13
Gnot provided
SCN8A
(V960D)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 13
GPathogenic
SCN8A
(N984K)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 13
GPathogenic
SCN8A
(I1327V +1 more)
Single nucleotide variant
(missense variant)
SCN8A-related disorder
+2 more
GPathogenic/Likely pathogenic
SCN8A
(L1290V +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 13
GPathogenic
SCN8A
(G1451S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
SCN8A
(N1466T +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 13
GPathogenic
SCN8A
(N1466K +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 13
GPathogenic
SCN8A
(I1479V +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 13
GPathogenic
SCN8A
(E1483K +1 more)
Single nucleotide variant
(missense variant)
Seizures, benign familial infantile, 5
+3 more
GPathogenic
SCN8A
(I1583T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
SCN8A
(V1592L +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 13
GLikely pathogenic
SCN8A
(S1596C +1 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GPathogenic
SCN8A
(I1605V +1 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
SCN8A
(R1617Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GPathogenic
SCN8A
(L1621W +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
SCN8A
(G1625R +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 13
Gnot provided
SCN8A
(A1650T +1 more)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
+1 more
GPathogenic
SCN8A
(N1768D +1 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GPathogenic
SCN8A
(Q1801E +1 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GPathogenic
SCN8A
(E1870D +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 13
Gnot provided
SCN8A
(R1872W +1 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+4 more
GPathogenic
SCN8A
(R1872Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
SCN8A
Protein only
Developmental and epileptic encephalopathy, 13
GPathogenic
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