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Links from MedGen

Items: 95

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN8A
(L1600P +1 more)
Single nucleotide variant
(missense variant)
Cognitive impairment with or without cerebellar ataxia
GUncertain significance
SCN8A
(M1481K +1 more)
Single nucleotide variant
(missense variant)
Myoclonus, familial, 2
+3 more
GLikely pathogenic
SCN8A
(R226P)
Single nucleotide variant
(missense variant +1 more)
Seizures, benign familial infantile, 5
+3 more
GLikely pathogenic
SCN8A
(C324S)
Single nucleotide variant
(missense variant)
Cognitive impairment with or without cerebellar ataxia
+1 more
GUncertain significance
ACVR1B, ACVRL1
+3 more
Deletion
Seizures, benign familial infantile, 5
+3 more
GLikely pathogenic
SCN8A
Deletion
(frameshift variant)
Cognitive impairment with or without cerebellar ataxia
GLikely pathogenic
SCN8A
(E672D)
Single nucleotide variant
(missense variant)
Cognitive impairment with or without cerebellar ataxia
GUncertain significance
SCN8A
(I938F)
Single nucleotide variant
(missense variant)
Cognitive impairment with or without cerebellar ataxia
GLikely pathogenic
SCN8A
(S979N)
Indel
(missense variant)
Myoclonus, familial, 2
+3 more
GLikely pathogenic
SCN8A
(S1320C +1 more)
Single nucleotide variant
(missense variant)
Myoclonus, familial, 2
+3 more
GUncertain significance
SCN8A
(H559R)
Single nucleotide variant
(missense variant)
Myoclonus, familial, 2
+5 more
GConflicting classifications of pathogenicity
SCN8A
(Q895H)
Single nucleotide variant
(missense variant)
Cognitive impairment with or without cerebellar ataxia
GUncertain significance
SCN8A
(Q246R)
Single nucleotide variant
(missense variant)
Cognitive impairment with or without cerebellar ataxia
+1 more
GLikely pathogenic
LOC114803470, SCN8A
(P37fs)
Deletion
(frameshift variant)
Cognitive impairment with or without cerebellar ataxia
GLikely pathogenic
SCN8A
(I1299fs +1 more)
Duplication
(frameshift variant)
Cognitive impairment with or without cerebellar ataxia
GLikely pathogenic
SCN8A
(G1873S +1 more)
Single nucleotide variant
(missense variant)
Seizures, benign familial infantile, 5
+3 more
GUncertain significance
SCN8A
(I1721L +1 more)
Single nucleotide variant
(missense variant)
Cognitive impairment with or without cerebellar ataxia
GPathogenic
SCN8A
(F1728L +1 more)
Single nucleotide variant
(missense variant)
Myoclonus, familial, 2
+4 more
GUncertain significance
SCN8A
(R1323* +1 more)
Single nucleotide variant
(nonsense)
Cognitive impairment with or without cerebellar ataxia
+1 more
GConflicting classifications of pathogenicity
SCN8A
(L742P)
Single nucleotide variant
(missense variant)
Cognitive impairment with or without cerebellar ataxia
GUncertain significance
SCN8A
(W723G)
Single nucleotide variant
(missense variant)
Cognitive impairment with or without cerebellar ataxia
GUncertain significance
SCN8A
(A179fs)
Deletion
(frameshift variant)
Cognitive impairment with or without cerebellar ataxia
GLikely pathogenic
SCN8A
(Y1038C)
Single nucleotide variant
(missense variant)
Cognitive impairment with or without cerebellar ataxia
GUncertain significance
SCN8A
(E469del)
Microsatellite
(inframe_deletion)
Cognitive impairment with or without cerebellar ataxia
GUncertain significance
SCN8A
(C912G)
Single nucleotide variant
(missense variant)
Cognitive impairment with or without cerebellar ataxia
GLikely pathogenic
SCN8A
(I1346V +1 more)
Single nucleotide variant
(missense variant)
Cognitive impairment with or without cerebellar ataxia
GUncertain significance
SCN8A
Deletion
(splice acceptor variant)
Cognitive impairment with or without cerebellar ataxia
GLikely pathogenic
SCN8A
(C324Y)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 13
+1 more
GPathogenic/Likely pathogenic
SCN8A
(D1082V)
Single nucleotide variant
(missense variant)
Seizures, benign familial infantile, 5
+2 more
GUncertain significance
SCN8A
(G1281R +1 more)
Single nucleotide variant
(missense variant)
Cognitive impairment with or without cerebellar ataxia
GUncertain significance
SCN8A
(R1585C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
SCN8A
(G898fs)
Deletion
(frameshift variant)
Cognitive impairment with or without cerebellar ataxia
GPathogenic
SCN8A
(G384R)
Single nucleotide variant
(missense variant)
Cognitive impairment with or without cerebellar ataxia
GPathogenic
SCN8A
(M1605T +1 more)
Single nucleotide variant
(missense variant)
Cognitive impairment with or without cerebellar ataxia
GLikely pathogenic
SCN8A
(Q1150P)
Single nucleotide variant
(missense variant)
Cognitive impairment with or without cerebellar ataxia
GUncertain significance
SCN8A
(L422M)
Single nucleotide variant
(missense variant)
Seizures, benign familial infantile, 5
+3 more
GUncertain significance
SCN8A
(V1833L +1 more)
Single nucleotide variant
(missense variant)
Cognitive impairment with or without cerebellar ataxia
GConflicting classifications of pathogenicity
SCN8A
(R850G)
Single nucleotide variant
(missense variant)
Cognitive impairment with or without cerebellar ataxia
GPathogenic
SCN8A
(P474S)
Single nucleotide variant
(missense variant)
Seizures, benign familial infantile, 5
+4 more
GUncertain significance
SCN8A
(V409A)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GPathogenic/Likely pathogenic
SCN8A
(A1046T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GUncertain significance
SCN8A
(R495fs)
Insertion
(frameshift variant)
Cognitive impairment with or without cerebellar ataxia
GLikely pathogenic
SCN8A
Single nucleotide variant
(splice acceptor variant +1 more)
Cognitive impairment with or without cerebellar ataxia
+1 more
GUncertain significance
SCN8A
(W942*)
Insertion
(nonsense)
Seizures, benign familial infantile, 5
+2 more
GLikely pathogenic
SCN8A
(N276fs)
Deletion
(frameshift variant)
Cognitive impairment with or without cerebellar ataxia
GUncertain significance
SCN8A
(I1423T +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GLikely pathogenic
SCN8A
(I240F)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 13
+1 more
GLikely pathogenic
SCN8A
Single nucleotide variant
(intron variant)
Myoclonus, familial, 2
+4 more
GBenign
SCN8A
Single nucleotide variant
(intron variant)
Cognitive impairment with or without cerebellar ataxia
+4 more
GBenign
SCN8A
Duplication
(intron variant)
Seizures, benign familial infantile, 5
+5 more
GBenign
SCN8A
(R1866W +1 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+2 more
GUncertain significance
SCN8A
(E466K)
Single nucleotide variant
(missense variant)
Cognitive impairment with or without cerebellar ataxia
+5 more
GConflicting classifications of pathogenicity
SCN8A
(R226G)
Single nucleotide variant
(missense variant +1 more)
Cognitive impairment with or without cerebellar ataxia
GLikely pathogenic
SCN8A
(C1265R)
Single nucleotide variant
(missense variant)
Cognitive impairment with or without cerebellar ataxia
GUncertain significance
SCN8A
Single nucleotide variant
(splice donor variant)
Cognitive impairment with or without cerebellar ataxia
GUncertain significance
SCN8A
(T1921A +1 more)
Single nucleotide variant
(missense variant)
Cognitive impairment with or without cerebellar ataxia
+1 more
GUncertain significance
SCN8A
(N995K)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 13
+4 more
GConflicting classifications of pathogenicity
SCN8A
(E831K)
Single nucleotide variant
(missense variant)
Cognitive impairment with or without cerebellar ataxia
GLikely pathogenic
SCN8A
(R844Q)
Single nucleotide variant
(missense variant)
Cognitive impairment with or without cerebellar ataxia
GLikely pathogenic
SCN8A
(L1658F +1 more)
Single nucleotide variant
(missense variant)
Cognitive impairment with or without cerebellar ataxia
GUncertain significance
SCN8A
(W1751* +1 more)
Single nucleotide variant
(nonsense)
Cognitive impairment with or without cerebellar ataxia
GUncertain significance
SCN8A
(I745T)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GConflicting classifications of pathogenicity
SCN8A
(E713D)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+5 more
GUncertain significance
SCN8A
(A1235T)
Single nucleotide variant
(missense variant)
Cognitive impairment with or without cerebellar ataxia
+1 more
GConflicting classifications of pathogenicity
SCN8A
(L849H)
Single nucleotide variant
(missense variant)
Cognitive impairment with or without cerebellar ataxia
GLikely pathogenic
SCN8A
(V233I)
Single nucleotide variant
(missense variant +1 more)
Cognitive impairment with or without cerebellar ataxia
+2 more
GLikely pathogenic
SCN8A
(R226G)
Single nucleotide variant
(missense variant +1 more)
Cognitive impairment with or without cerebellar ataxia
+2 more
GLikely pathogenic
SCN8A
Single nucleotide variant
(intron variant)
Myoclonus, familial, 2
+4 more
GBenign
SCN8A
(R365H)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+3 more
GConflicting classifications of pathogenicity
SCN8A
(A1051V)
Single nucleotide variant
(missense variant)
Cognitive impairment with or without cerebellar ataxia
+1 more
GUncertain significance
LOC114803470, SCN8A
(N24S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GUncertain significance
SCN8A
(I1827V +1 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+4 more
GConflicting classifications of pathogenicity
SCN8A
(E507Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SCN8A
(K1123Q)
Single nucleotide variant
(missense variant)
Seizures, benign familial infantile, 5
+3 more
GUncertain significance
SCN8A
(A874T)
Single nucleotide variant
(missense variant)
Cognitive impairment with or without cerebellar ataxia
+1 more
GPathogenic/Likely pathogenic
SCN8A
Single nucleotide variant
(intron variant)
Cognitive impairment with or without cerebellar ataxia
+5 more
GConflicting classifications of pathogenicity
SCN8A
(R1055Q)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+5 more
GConflicting classifications of pathogenicity
SCN8A
(M1869T +1 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+4 more
GConflicting classifications of pathogenicity
SCN8A
(I240V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
SCN8A
(E593D)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SCN8A
(R1626H +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
SCN8A
Single nucleotide variant
(synonymous variant)
Cognitive impairment with or without cerebellar ataxia
+6 more
GBenign/Likely benign
SCN8A
Single nucleotide variant
(intron variant)
Myoclonus, familial, 2
+6 more
GBenign
SCN8A
(N153H)
Single nucleotide variant
(missense variant)
Seizures, benign familial infantile, 5
+4 more
GUncertain significance
SCN8A
(R662C)
Single nucleotide variant
(missense variant)
Cognitive impairment with or without cerebellar ataxia
+1 more
GUncertain significance
SCN8A
(A1323T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GPathogenic/Likely pathogenic
LOC114803470, SCN8A
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
+6 more
GBenign/Likely benign
SCN8A
(I700L)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+7 more
GBenign/Likely benign
SCN8A
(R850Q)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
SCN8A
Single nucleotide variant
(synonymous variant)
not specified
+7 more
GBenign
SCN8A
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
+7 more
GBenign
SCN8A
Single nucleotide variant
(synonymous variant)
Seizures, benign familial infantile, 5
+7 more
GBenign
SCN8A
Single nucleotide variant
(synonymous variant)
not specified
+7 more
GBenign/Likely benign
SCN8A
Single nucleotide variant
(synonymous variant)
not specified
+6 more
GBenign
SCN8A
(P1678fs +1 more)
Deletion
(frameshift variant)
Cognitive impairment with or without cerebellar ataxia
GPathogenic
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