U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 188

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
(D1726N +5 more)
Single nucleotide variant
(missense variant +1 more)
Severe myoclonic epilepsy in infancy
+3 more
GUncertain significance
SCN1A
Duplication
(splice donor variant)
Severe myoclonic epilepsy in infancy
+3 more
GLikely pathogenic
SCN1A
(K276N)
Single nucleotide variant
(missense variant +2 more)
Migraine, familial hemiplegic, 3
GPathogenic
LOC102724058, SCN1A
(R1613G +5 more)
Single nucleotide variant
(missense variant +1 more)
Migraine, familial hemiplegic, 3
GLikely pathogenic
SCN1A
(V220D)
Single nucleotide variant
(missense variant +2 more)
Migraine, familial hemiplegic, 3
GPathogenic
SCN1A
Single nucleotide variant
(splice donor variant)
Migraine, familial hemiplegic, 3
GPathogenic
SCN1A
(W138R +5 more)
Single nucleotide variant
(missense variant +1 more)
Migraine, familial hemiplegic, 3
GPathogenic
SCN1A
(L882R +5 more)
Single nucleotide variant
(missense variant +1 more)
Migraine, familial hemiplegic, 3
GLikely pathogenic
SCN1A
Single nucleotide variant
(splice acceptor variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
+3 more
GUncertain significance
SCN1A
Single nucleotide variant
(5 prime UTR variant +1 more)
Severe myoclonic epilepsy in infancy
+4 more
GLikely benign
SCN1A
(G271S)
Single nucleotide variant
(missense variant +2 more)
Migraine, familial hemiplegic, 3
+4 more
GPathogenic/Likely pathogenic
SCN1A
(A485G +1 more)
Single nucleotide variant
(missense variant +2 more)
Migraine, familial hemiplegic, 3
+4 more
GConflicting classifications of pathogenicity
SCN1A
(L390P)
Single nucleotide variant
(missense variant +2 more)
Migraine, familial hemiplegic, 3
+4 more
GPathogenic/Likely pathogenic
LOC102724058, SCN1A
(T1127K +5 more)
Single nucleotide variant
(missense variant +1 more)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
LOC102724058, SCN1A
(W1423R +5 more)
Single nucleotide variant
(missense variant +1 more)
Migraine, familial hemiplegic, 3
+1 more
GConflicting classifications of pathogenicity
SCN1A
(Y12C +5 more)
Single nucleotide variant
(missense variant +1 more)
Migraine, familial hemiplegic, 3
+4 more
GUncertain significance
SCN1A
(W280*)
Single nucleotide variant
(nonsense +2 more)
Migraine, familial hemiplegic, 3
+4 more
GPathogenic
LOC102724058, SCN1A
(G1148S +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
+4 more
GConflicting classifications of pathogenicity
SCN1A
Single nucleotide variant
(splice donor variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GPathogenic
LOC102724058, SCN1A
(L1328P +5 more)
Single nucleotide variant
(missense variant +1 more)
Migraine, familial hemiplegic, 3
GLikely pathogenic
LOC102724058, SCN1A
(K1580I +5 more)
Single nucleotide variant
(missense variant +1 more)
Migraine, familial hemiplegic, 3
GPathogenic
SCN1A
Deletion
(splice donor variant)
Migraine, familial hemiplegic, 3
+1 more
GConflicting classifications of pathogenicity
SCN1A
(G584A +1 more)
Single nucleotide variant
(missense variant +2 more)
Migraine, familial hemiplegic, 3
GLikely benign
SCN1A
(M640fs +1 more)
Indel
(frameshift variant +2 more)
Migraine, familial hemiplegic, 3
GLikely pathogenic
SCN1A
(W314*)
Single nucleotide variant
(nonsense +2 more)
Migraine, familial hemiplegic, 3
GLikely pathogenic
SCN1A
(G614* +1 more)
Single nucleotide variant
(nonsense +2 more)
Migraine, familial hemiplegic, 3
GPathogenic
LOC102724058, SCN1A
(L1634S +5 more)
Single nucleotide variant
(missense variant +1 more)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GConflicting classifications of pathogenicity
SCN1A
(I227T)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
LOC102724058, SCN1A
(Y1753H +5 more)
Single nucleotide variant
(missense variant +1 more)
Migraine, familial hemiplegic, 3
+1 more
GPathogenic
SCN1A
Insertion
(intron variant)
Migraine, familial hemiplegic, 3
GUncertain significance
LOC102724058, SCN1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
+2 more
GConflicting classifications of pathogenicity
LOC102724058, SCN1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
+2 more
GConflicting classifications of pathogenicity
LOC102724058, SCN1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Migraine, familial hemiplegic, 3
+1 more
GUncertain significance
LOC102724058, SCN1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Migraine, familial hemiplegic, 3
+1 more
GUncertain significance
SCN1A
Single nucleotide variant
(synonymous variant +1 more)
Early infantile epileptic encephalopathy with suppression bursts
+2 more
GConflicting classifications of pathogenicity
LOC102724058, SCN1A
Single nucleotide variant
(synonymous variant +1 more)
Migraine, familial hemiplegic, 3
+1 more
GUncertain significance
LOC102724058, SCN1A
(N1153K +5 more)
Single nucleotide variant
(missense variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
+1 more
GUncertain significance
LOC102724058, SCN1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Migraine, familial hemiplegic, 3
+1 more
GUncertain significance
LOC102724058, SCN1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Migraine, familial hemiplegic, 3
+1 more
GUncertain significance
LOC102724058, SCN1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Migraine, familial hemiplegic, 3
+1 more
GUncertain significance
SCN1A
Single nucleotide variant
(intron variant)
Early infantile epileptic encephalopathy with suppression bursts
+2 more
GConflicting classifications of pathogenicity
SCN1A
(P669L +1 more)
Single nucleotide variant
(missense variant +3 more)
Early infantile epileptic encephalopathy with suppression bursts
+3 more
GUncertain significance
LOC102724058, SCN1A
(R1379Q +5 more)
Single nucleotide variant
(missense variant +1 more)
Migraine, familial hemiplegic, 3
+2 more
GUncertain significance
LOC102724058, SCN1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Migraine, familial hemiplegic, 3
+1 more
GUncertain significance
LOC102724058, SCN1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Migraine, familial hemiplegic, 3
+1 more
GUncertain significance
LOC102724058, SCN1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Migraine, familial hemiplegic, 3
+1 more
GUncertain significance
LOC102724058, SCN1A
Single nucleotide variant
(intron variant)
Migraine, familial hemiplegic, 3
+2 more
GConflicting classifications of pathogenicity
LOC102724058, SCN1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
+1 more
GUncertain significance
LOC102724058, SCN1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
+1 more
GUncertain significance
LOC102724058, SCN1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
+1 more
GUncertain significance
LOC102724058, SCN1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
+1 more
GUncertain significance
LOC102724058, SCN1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
+1 more
GUncertain significance
LOC102724058, SCN1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
+1 more
GUncertain significance
SCN1A
(L80fs)
Duplication
(frameshift variant +2 more)
Early infantile epileptic encephalopathy with suppression bursts
GPathogenic
LOC102724058, SCN1A
(E1670K +5 more)
Single nucleotide variant
(missense variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
+4 more
GUncertain significance
SCN1A
(I296V)
Single nucleotide variant
(missense variant +2 more)
Early infantile epileptic encephalopathy with suppression bursts
+4 more
GConflicting classifications of pathogenicity
SCN1A
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
LOC102724058, SCN1A
(N1350I +5 more)
Single nucleotide variant
(missense variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
+2 more
GLikely pathogenic
LOC102724058, SCN1A
Single nucleotide variant
(synonymous variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
+3 more
GConflicting classifications of pathogenicity
LOC102724058, SCN1A
Single nucleotide variant
(synonymous variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
+3 more
GConflicting classifications of pathogenicity
SCN1A
(I448T)
Single nucleotide variant
(missense variant +2 more)
Early infantile epileptic encephalopathy with suppression bursts
+5 more
GUncertain significance
SCN1A
(K452*)
Single nucleotide variant
(nonsense +2 more)
not provided
+4 more
GPathogenic
LOC102724058, SCN1A
(K1401E +5 more)
Single nucleotide variant
(missense variant +1 more)
Migraine, familial hemiplegic, 3
+4 more
GUncertain significance
SCN1A
(F745C +4 more)
Single nucleotide variant
(missense variant +2 more)
Generalized epilepsy with febrile seizures plus, type 2
+2 more
GUncertain significance
SCN1A
(E181G)
Single nucleotide variant
(missense variant +2 more)
Early infantile epileptic encephalopathy with suppression bursts
+4 more
GUncertain significance
SCN1A
Single nucleotide variant
(synonymous variant +2 more)
not provided
+5 more
GConflicting classifications of pathogenicity
SCN1A
(G585R +1 more)
Single nucleotide variant
(missense variant +2 more)
Generalized epilepsy with febrile seizures plus, type 2
+3 more
GUncertain significance
SCN1A
Single nucleotide variant
(synonymous variant +2 more)
Generalized epilepsy with febrile seizures plus, type 2
+4 more
GConflicting classifications of pathogenicity
LOC102724058, SCN1A
(K1985N +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
LOC102724058, SCN1A
(R1901* +5 more)
Single nucleotide variant
(nonsense +1 more)
Migraine, familial hemiplegic, 3
+3 more
GPathogenic
LOC102724058, SCN1A
(V1527I +5 more)
Single nucleotide variant
(missense variant +1 more)
Early infantile epileptic encephalopathy with suppression bursts
+5 more
GConflicting classifications of pathogenicity
SCN1A
Single nucleotide variant
(intron variant)
Generalized epilepsy with febrile seizures plus, type 2
+3 more
GBenign
LOC102724058, SCN1A
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+6 more
GConflicting classifications of pathogenicity
SCN1A
(E46K)
Single nucleotide variant
(missense variant +2 more)
not specified
+5 more
GUncertain significance
SCN1A
(V1005M +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
LOC102724058, SCN1A
(A1940S +5 more)
Single nucleotide variant
(missense variant +1 more)
Migraine, familial hemiplegic, 3
+5 more
GUncertain significance
SCN1A
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
SCN1A
(R187Q)
Single nucleotide variant
(missense variant +2 more)
Early infantile epileptic encephalopathy with suppression bursts
+3 more
GUncertain significance
SCN1A
(P189A)
Single nucleotide variant
(missense variant +2 more)
Early infantile epileptic encephalopathy with suppression bursts
+3 more
GUncertain significance
SCN1A
Single nucleotide variant
(intron variant)
Epilepsy
+2 more
GUncertain significance
SCN1A
Single nucleotide variant
(intron variant)
Migraine, familial hemiplegic, 3
+4 more
GConflicting classifications of pathogenicity
SCN1A
Duplication
(intron variant)
Familial hemiplegic migraine
+6 more
GBenign
SCN1A
(I820T +5 more)
Single nucleotide variant
(missense variant +1 more)
Epilepsy
+3 more
GUncertain significance
SCN1A
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
LOC102724058, SCN1A
Single nucleotide variant
(non-coding transcript variant +1 more)
Epilepsy
+2 more
GUncertain significance
LOC102724058, SCN1A
Single nucleotide variant
(synonymous variant +1 more)
Epilepsy
+5 more
GConflicting classifications of pathogenicity
LOC102724058, SCN1A
Single nucleotide variant
(intron variant)
Migraine, familial hemiplegic, 3
+3 more
GConflicting classifications of pathogenicity
LOC102724058, SCN1A
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+5 more
GBenign/Likely benign
LOC102724058, SCN1A
Single nucleotide variant
(intron variant)
Early infantile epileptic encephalopathy with suppression bursts
+4 more
GConflicting classifications of pathogenicity
LOC102724058, SCN1A
Single nucleotide variant
(synonymous variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
LOC102724058, SCN1A
(E1998Q +5 more)
Single nucleotide variant
(missense variant +1 more)
Early infantile epileptic encephalopathy with suppression bursts
+3 more
GUncertain significance
LOC102724058, SCN1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Epilepsy
+2 more
GUncertain significance
LOC102724058, SCN1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Epilepsy
+2 more
GUncertain significance
LOC102724058, SCN1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Epilepsy
+2 more
GUncertain significance
LOC102724058, SCN1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
+2 more
GBenign/Likely benign
LOC102724058, SCN1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
+3 more
GBenign
LOC102724058, SCN1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Epilepsy
+2 more
GUncertain significance
LOC102724058, SCN1A
Single nucleotide variant
(3 prime UTR variant +1 more)
Epilepsy
+2 more
GUncertain significance
Format
Items per page
Sort by
Choose Destination