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Links from MedGen

Items: 1 to 100 of 353

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN1A
(I241N)
Single nucleotide variant
(missense variant +2 more)
Generalized epilepsy with febrile seizures plus, type 2
GLikely pathogenic
SCN1A
(Q429K)
Single nucleotide variant
(missense variant +2 more)
Migraine, familial hemiplegic, 3
+3 more
GPathogenic
SCN1A
(D81N)
Single nucleotide variant
(missense variant +2 more)
Migraine, familial hemiplegic, 3
+3 more
GPathogenic
LOC102724058, SCN1A
(Y1345* +5 more)
Single nucleotide variant
(nonsense +1 more)
Generalized epilepsy with febrile seizures plus, type 2
GLikely pathogenic
LOC102724058, SCN1A
(F1230Y +5 more)
Single nucleotide variant
(missense variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
GUncertain significance
SCN1A
(C345S)
Single nucleotide variant
(missense variant +2 more)
Generalized epilepsy with febrile seizures plus, type 2
GUncertain significance
SCN1A
(Q267fs)
Deletion
(frameshift variant +2 more)
Generalized epilepsy with febrile seizures plus, type 2
GPathogenic
LOC102724058, SCN1A
(R1511fs +5 more)
Deletion
(frameshift variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
GPathogenic
SCN1A
(R579L +1 more)
Single nucleotide variant
(missense variant +2 more)
Generalized epilepsy with febrile seizures plus, type 2
GUncertain significance
SCN1A
Single nucleotide variant
(intron variant)
Generalized epilepsy with febrile seizures plus, type 2
GUncertain significance
LOC102724058, SCN1A
(A1005S +5 more)
Single nucleotide variant
(missense variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
+2 more
GUncertain significance
LOC102724058, SCN1A
(D1726N +5 more)
Single nucleotide variant
(missense variant +1 more)
Severe myoclonic epilepsy in infancy
+3 more
GUncertain significance
SCN1A
(Y413*)
Single nucleotide variant
(nonsense +2 more)
Generalized epilepsy with febrile seizures plus, type 2
GLikely pathogenic
SCN1A
(T654K +4 more)
Single nucleotide variant
(missense variant +2 more)
Severe myoclonic epilepsy in infancy
GUncertain significance
LOC102724058, SCN1A
(F1437V +5 more)
Single nucleotide variant
(missense variant +1 more)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GConflicting classifications of pathogenicity
SCN1A, LOC102724058
(D1515N +5 more)
Single nucleotide variant
(missense variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
GLikely pathogenic
SCN1A
Duplication
(splice donor variant)
Severe myoclonic epilepsy in infancy
+3 more
GLikely pathogenic
LOC102724058, SCN1A
(I1926V +5 more)
Single nucleotide variant
(missense variant +1 more)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GUncertain significance
RELN, SLC26A5-AS1
(R2895H)
Single nucleotide variant
(missense variant)
Generalized epilepsy with febrile seizures plus, type 2
+2 more
GUncertain significance
SCN1A
(R477fs +1 more)
Microsatellite
(frameshift variant +2 more)
Generalized epilepsy with febrile seizures plus, type 2
GLikely pathogenic
LOC102724058, SCN1A
(D1713E +5 more)
Single nucleotide variant
(missense variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
GUncertain significance
LOC102724058, SCN1A
(Y1616* +5 more)
Single nucleotide variant
(nonsense +1 more)
Generalized epilepsy with febrile seizures plus, type 2
+2 more
GConflicting classifications of pathogenicity
LOC102724058, SCN1A
(E1594Q +5 more)
Single nucleotide variant
(missense variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
GLikely pathogenic
SCN1A
(V404fs)
Deletion
(frameshift variant +2 more)
Generalized epilepsy with febrile seizures plus, type 2
GPathogenic
SCN1A
(Q279R)
Single nucleotide variant
(missense variant +2 more)
Generalized epilepsy with febrile seizures plus, type 2
GUncertain significance
LOC102724058, SCN1A
(I1584V +5 more)
Single nucleotide variant
(missense variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
GUncertain significance
LOC102724058, SCN1A
(I1564N +5 more)
Single nucleotide variant
(missense variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
GLikely pathogenic
SCN1A
(G77R +5 more)
Single nucleotide variant
(missense variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
GLikely pathogenic
SCN1A
Single nucleotide variant
(splice donor variant)
Generalized epilepsy with febrile seizures plus, type 2
GPathogenic
SCN1A
(G355D)
Single nucleotide variant
(missense variant +2 more)
Generalized epilepsy with febrile seizures plus, type 2
GPathogenic
LOC102724058, SCN1A
(E1187Q +5 more)
Single nucleotide variant
(missense variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
GPathogenic
SCN1A
(R377H)
Indel
(missense variant +2 more)
Generalized epilepsy with febrile seizures plus, type 2
GLikely pathogenic
LOC102724058, SCN1A
(I1469T +5 more)
Single nucleotide variant
(missense variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
GLikely pathogenic
LOC102724058, SCN1A
(A1192T +5 more)
Single nucleotide variant
(missense variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
GUncertain significance
SCN1A
(M146K +5 more)
Single nucleotide variant
(missense variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
GLikely pathogenic
LOC102724058, SCN1A
Microsatellite
(splice donor variant)
Generalized epilepsy with febrile seizures plus, type 2
GLikely pathogenic
SCN1A
(S561fs +1 more)
Deletion
(frameshift variant +2 more)
Generalized epilepsy with febrile seizures plus, type 2
GLikely pathogenic
LOC102724058, SCN1A
(K1492N +5 more)
Single nucleotide variant
(missense variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
GUncertain significance
LOC102724058, SCN1A
Single nucleotide variant
(splice donor variant)
Generalized epilepsy with febrile seizures plus, type 2
GPathogenic
SCN1A
(E328fs)
Deletion
(frameshift variant +2 more)
Generalized epilepsy with febrile seizures plus, type 2
GLikely pathogenic
SCN1A
(Y65*)
Single nucleotide variant
(nonsense +2 more)
Generalized epilepsy with febrile seizures plus, type 2
GPathogenic
SCN1A
(A239D)
Single nucleotide variant
(missense variant +2 more)
Generalized epilepsy with febrile seizures plus, type 2
GPathogenic
SCN1A
Deletion
(nonsense +2 more)
Generalized epilepsy with febrile seizures plus, type 2
GPathogenic
SCN1A
(S340Y)
Single nucleotide variant
(missense variant +2 more)
Generalized epilepsy with febrile seizures plus, type 2
GPathogenic
SCN1A
(M350fs)
Deletion
(frameshift variant +2 more)
Generalized epilepsy with febrile seizures plus, type 2
GPathogenic
SCN1A
(G584fs +1 more)
Microsatellite
(frameshift variant +2 more)
Generalized epilepsy with febrile seizures plus, type 2
GPathogenic
SCN1A
(P656fs +1 more)
Deletion
(frameshift variant +3 more)
Generalized epilepsy with febrile seizures plus, type 2
GPathogenic
SCN1A
(L734fs +4 more)
Deletion
(frameshift variant +2 more)
Generalized epilepsy with febrile seizures plus, type 2
GPathogenic
SCN1A
(Y11* +5 more)
Single nucleotide variant
(nonsense +1 more)
Generalized epilepsy with febrile seizures plus, type 2
GPathogenic
SCN1A
(I68fs +5 more)
Deletion
(frameshift variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
GPathogenic
SCN1A
(C113R +5 more)
Single nucleotide variant
(missense variant +1 more)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GPathogenic/Likely pathogenic
SCN1A
(M923R +5 more)
Single nucleotide variant
(missense variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
+1 more
GPathogenic/Likely pathogenic
SCN1A
(L170P +5 more)
Single nucleotide variant
(missense variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
GPathogenic
LOC102724058, SCN1A
(N1099fs +5 more)
Deletion
(non-coding transcript variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
GPathogenic
LOC102724058, SCN1A
(T1288R +5 more)
Single nucleotide variant
(missense variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
GPathogenic
LOC102724058, SCN1A
(G1342D +5 more)
Single nucleotide variant
(missense variant +1 more)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GPathogenic/Likely pathogenic
LOC102724058, SCN1A
Deletion
(splice donor variant)
Generalized epilepsy with febrile seizures plus, type 2
GPathogenic
LOC102724058, SCN1A
(L1448fs +5 more)
Deletion
(frameshift variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
GPathogenic
LOC102724058, SCN1A
(A1640T +5 more)
Single nucleotide variant
(missense variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
GPathogenic
LOC102724058, SCN1A
(W1697S +5 more)
Single nucleotide variant
(missense variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
GPathogenic
LOC102724058, SCN1A
(S1744fs +5 more)
Deletion
(frameshift variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
GPathogenic
LOC102724058, SCN1A
(Q1090fs +5 more)
Deletion
(frameshift variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
GPathogenic
SCN1A
(L108Q)
Single nucleotide variant
(missense variant +2 more)
Generalized epilepsy with febrile seizures plus, type 2
GLikely pathogenic
SCN1A
Single nucleotide variant
(intron variant)
Generalized epilepsy with febrile seizures plus, type 2
GLikely pathogenic
SCN1A
(V169G +5 more)
Single nucleotide variant
(missense variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
GLikely pathogenic
SCN1A
Single nucleotide variant
(splice acceptor variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
+3 more
GUncertain significance
LOC102724058, SCN1A
(L1051P +5 more)
Single nucleotide variant
(missense variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
GUncertain significance
SCN1A
Deletion
(inframe_deletion +2 more)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GUncertain significance
SCN1A
Single nucleotide variant
(5 prime UTR variant +1 more)
Severe myoclonic epilepsy in infancy
+4 more
GLikely benign
LOC102724058, SCN1A
(L1352Q +5 more)
Single nucleotide variant
(missense variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
+1 more
GConflicting classifications of pathogenicity
LOC102724058, SCN1A
(F1017Y +5 more)
Single nucleotide variant
(missense variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
+1 more
GConflicting classifications of pathogenicity
SCN1A
(I828T +5 more)
Single nucleotide variant
(missense variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
+1 more
GConflicting classifications of pathogenicity
SCN1A
Single nucleotide variant
(splice donor variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GPathogenic
SCN1A
(G271S)
Single nucleotide variant
(missense variant +2 more)
Migraine, familial hemiplegic, 3
+4 more
GPathogenic/Likely pathogenic
LOC102724058, SCN1A
(E1802K +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
SCN1A
(A485G +1 more)
Single nucleotide variant
(missense variant +2 more)
Migraine, familial hemiplegic, 3
+4 more
GConflicting classifications of pathogenicity
SCN1A
(G34* +5 more)
Single nucleotide variant
(nonsense +1 more)
Generalized epilepsy with febrile seizures plus, type 2
GLikely pathogenic
SCN1A
(V133L +5 more)
Single nucleotide variant
(missense variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
GUncertain significance
SCN1A
(M251V)
Single nucleotide variant
(missense variant +2 more)
Generalized epilepsy with febrile seizures plus, type 2
GUncertain significance
LOC102724058, SCN1A
(I1756T +5 more)
Single nucleotide variant
(missense variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
GUncertain significance
LOC102724058, SCN1A
Single nucleotide variant
(splice acceptor variant)
Generalized epilepsy with febrile seizures plus, type 2
GPathogenic
SCN1A
(S489fs +1 more)
Deletion
(frameshift variant +2 more)
Generalized epilepsy with febrile seizures plus, type 2
GLikely pathogenic
LOC102724058, SCN1A
(Y1393F +5 more)
Single nucleotide variant
(missense variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
GLikely pathogenic
SCN1A
(F269L)
Single nucleotide variant
(missense variant +2 more)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GConflicting classifications of pathogenicity
LOC102724058, SCN1A
(K1065I +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
GLikely pathogenic
LOC102724058, SCN1A
(E1209G +5 more)
Single nucleotide variant
(missense variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
GUncertain significance
SCN1A
Deletion
Generalized epilepsy with febrile seizures plus, type 2
GLikely pathogenic
LOC102724058, SCN1A
(D1468N +5 more)
Single nucleotide variant
(missense variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
GUncertain significance
LOC102724058, SCN1A
(V1268I +5 more)
Single nucleotide variant
(missense variant +1 more)
Severe myoclonic epilepsy in infancy
+4 more
GConflicting classifications of pathogenicity
LOC102724058, SCN1A
(L1638fs +5 more)
Deletion
(frameshift variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
GPathogenic
SCN1A
(T89fs)
Deletion
(frameshift variant +2 more)
Generalized epilepsy with febrile seizures plus, type 2
GLikely pathogenic
SCN1A
(N693H +4 more)
Single nucleotide variant
(missense variant +2 more)
Generalized epilepsy with febrile seizures plus, type 2
GUncertain significance
LOC102724058, SCN1A
(V1061fs +5 more)
Deletion
(frameshift variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
GLikely pathogenic
SCN1A
(S572R +1 more)
Single nucleotide variant
(missense variant +2 more)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GUncertain significance
SCN1A
(I69T +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SCN1A
(A474L +1 more)
Indel
(missense variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
LOC102724058, SCN1A
(I1587T +5 more)
Single nucleotide variant
(missense variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
+2 more
GConflicting classifications of pathogenicity
LOC102724058, SCN1A
(Q1109H +5 more)
Single nucleotide variant
(missense variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
+1 more
GPathogenic/Likely pathogenic
LOC102724058, SCN1A
(F1678S +5 more)
Single nucleotide variant
(missense variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
GPathogenic
SCN1A
(P346L)
Single nucleotide variant
(missense variant +2 more)
Severe myoclonic epilepsy in infancy
+1 more
GLikely pathogenic
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