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Items: 44

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC114803470, SCN8A
Single nucleotide variant
(synonymous variant)
Myoclonus, familial, 2
+6 more
GBenign/Likely benign
LOC114803470, SCN8A
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GConflicting classifications of pathogenicity
SCN8A
(K101R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN8A
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
+3 more
GConflicting classifications of pathogenicity
SCN8A
(T164M)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GConflicting classifications of pathogenicity
SCN8A
Single nucleotide variant
(synonymous variant)
Myoclonus, familial, 2
+7 more
GBenign
SCN8A
(I202N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN8A
(V211A)
Single nucleotide variant
(missense variant +1 more)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GLikely pathogenic
SCN8A
Single nucleotide variant
(intron variant)
Early infantile epileptic encephalopathy with suppression bursts
+2 more
GConflicting classifications of pathogenicity
SCN8A
(I406N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SCN8A
(Y414F)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GUncertain significance
SCN8A
(R475Q)
Single nucleotide variant
(missense variant)
SCN8A-related condition
+4 more
GLikely benign
SCN8A
(M524V)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GUncertain significance
SCN8A
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
SCN8A
(A607T)
Single nucleotide variant
(missense variant)
SCN8A-related condition
+3 more
GConflicting classifications of pathogenicity
SCN8A
Single nucleotide variant
(synonymous variant)
Seizures, benign familial infantile, 5
+6 more
GBenign
SCN8A
Microsatellite
(inframe_deletion)
not provided
+2 more
GConflicting classifications of pathogenicity
SCN8A
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
SCN8A
(I700L)
Single nucleotide variant
(missense variant)
Myoclonus, familial, 2
+7 more
GBenign/Likely benign
SCN8A
(I763V)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GPathogenic/Likely pathogenic
SCN8A
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
SCN8A
(L848W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SCN8A
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
SCN8A
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
+3 more
GConflicting classifications of pathogenicity
SCN8A
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SCN8A
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
SCN8A
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
+2 more
GConflicting classifications of pathogenicity
SCN8A
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
SCN8A
(A1214T)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+2 more
GConflicting classifications of pathogenicity
SCN8A
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+4 more
GBenign/Likely benign
SCN8A
(A1323T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GPathogenic/Likely pathogenic
SCN8A
(N1329D +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
SCN8A
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
+3 more
GConflicting classifications of pathogenicity
SCN8A
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+6 more
GBenign/Likely benign
SCN8A
(M1573I +1 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+2 more
GConflicting classifications of pathogenicity
SCN8A
(R1626H +1 more)
Single nucleotide variant
(missense variant)
Cognitive impairment with or without cerebellar ataxia
+4 more
GConflicting classifications of pathogenicity
SCN8A
(P1718S +1 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GUncertain significance
SCN8A
(Y1789C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SCN8A
Single nucleotide variant
(synonymous variant)
Seizures, benign familial infantile, 5
+7 more
GBenign
SCN8A
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GConflicting classifications of pathogenicity
SCN8A
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
+3 more
GBenign/Likely benign
SCN8A
(N1877S +1 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+4 more
GConflicting classifications of pathogenicity
SCN8A
(R1960Q +1 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+3 more
GConflicting classifications of pathogenicity
SCN8A
Microsatellite
(no sequence alteration)
Inborn genetic diseases
+4 more
GBenign/Likely benign
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