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Links from MedGen

Items: 71

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC102724058, SCN1A
(K1598M +5 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy 6B
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
(G1246V +5 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy 6B
Gnot provided
LOC102724058, SCN1A
(L1561R +5 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy 6B
GUncertain significance
LOC102724058, SCN1A
(W1715R +5 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy 6B
GLikely pathogenic
LOC102724058, SCN1A
(Y1432* +5 more)
Single nucleotide variant
(nonsense +1 more)
Developmental and epileptic encephalopathy 6B
GLikely pathogenic
SCN1A
(M120L +5 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy 6B
GLikely pathogenic
LOC102724058, SCN1A
(A1005S +5 more)
Single nucleotide variant
(missense variant +1 more)
Severe myoclonic epilepsy in infancy
+2 more
GUncertain significance
LOC102724058, SCN1A
(Y1431C +5 more)
Single nucleotide variant
(missense variant +1 more)
Severe myoclonic epilepsy in infancy
+1 more
GLikely pathogenic
LOC102724058, SCN1A
(D1726N +5 more)
Single nucleotide variant
(missense variant +1 more)
Severe myoclonic epilepsy in infancy
+3 more
GUncertain significance
SCN1A
Single nucleotide variant
(splice acceptor variant)
Developmental and epileptic encephalopathy 6B
GLikely pathogenic
SCN1A
Duplication
(splice donor variant)
Severe myoclonic epilepsy in infancy
+3 more
GLikely pathogenic
LOC102724058, SCN1A
(L1236M +5 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy 6B
GLikely pathogenic
LOC102724058, SCN1A
(M1304I +5 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy 6B
GLikely pathogenic
LOC102724058, SCN1A
(V1738F +5 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy 6B
GLikely pathogenic
SCN1A
(D807E +5 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC102724058, SCN1A
(E1012* +5 more)
Single nucleotide variant
(nonsense +1 more)
Developmental and epileptic encephalopathy 6B
GPathogenic
SCN1A
(W138L +5 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy 6B
GLikely pathogenic
LOC102724058, SCN1A
(V1435L +5 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy 6B
GBenign
SCN1A
(E435fs)
Deletion
(frameshift variant +2 more)
Severe myoclonic epilepsy in infancy
+2 more
GPathogenic/Likely pathogenic
SCN1A
Single nucleotide variant
(splice acceptor variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
+3 more
GUncertain significance
LOC102724058, SCN1A
(A1137P +5 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy 6B
+1 more
GUncertain significance
SCN1A
Single nucleotide variant
(5 prime UTR variant +1 more)
Severe myoclonic epilepsy in infancy
+4 more
GLikely benign
SCN1A
(T660I +1 more)
Single nucleotide variant
(missense variant +3 more)
Developmental and epileptic encephalopathy 6B
+1 more
GConflicting classifications of pathogenicity
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
(R566T +1 more)
Single nucleotide variant
(missense variant +2 more)
Developmental and epileptic encephalopathy 6B
GUncertain significance
SCN1A
(S489R +1 more)
Single nucleotide variant
(missense variant +2 more)
Developmental and epileptic encephalopathy 6B
GUncertain significance
SCN1A
(L50M +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
LOC102724058, SCN1A
(V1268I +5 more)
Single nucleotide variant
(missense variant +1 more)
Severe myoclonic epilepsy in infancy
+4 more
GConflicting classifications of pathogenicity
SCN1A
Single nucleotide variant
(missense variant +2 more)
Developmental and epileptic encephalopathy 6B
GPathogenic
SCN1A
(L478P +1 more)
Single nucleotide variant
(missense variant +2 more)
Early infantile epileptic encephalopathy with suppression bursts
+3 more
GUncertain significance
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
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
LOC102724058, SCN1A
(P1316S +5 more)
Single nucleotide variant
(missense variant +1 more)
Early infantile epileptic encephalopathy with suppression bursts
GLikely pathogenic
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
(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
(P189fs)
Deletion
(frameshift variant +2 more)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GPathogenic/Likely pathogenic
LOC102724058, SCN1A
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+6 more
GConflicting classifications of pathogenicity
LOC102724058, SCN1A
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
LOC102724058, SCN1A
(A1940S +5 more)
Single nucleotide variant
(missense variant +1 more)
Migraine, familial hemiplegic, 3
+5 more
GUncertain significance
LOC102724058, SCN1A
(M1256T +5 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy 6B
+1 more
GConflicting classifications of pathogenicity
SCN1A
Duplication
(intron variant)
Familial hemiplegic migraine
+6 more
GBenign
SCN1A
(A420D)
Single nucleotide variant
(missense variant +2 more)
Developmental and epileptic encephalopathy 6B
+1 more
GConflicting classifications of pathogenicity
SCN1A
(F256fs)
Microsatellite
(frameshift variant +2 more)
Early infantile epileptic encephalopathy with suppression bursts
+2 more
GPathogenic
SCN1A
(I236T)
Single nucleotide variant
(missense variant +2 more)
Developmental and epileptic encephalopathy 6B
+1 more
GConflicting classifications of pathogenicity
SCN1A
(R568* +1 more)
Single nucleotide variant
(nonsense +2 more)
Severe myoclonic epilepsy in infancy
+6 more
GPathogenic
SCN1A
Duplication
(intron variant)
not provided
+6 more
GBenign/Likely benign
SCN1A
(N47fs)
Deletion
(frameshift variant +2 more)
not provided
+4 more
GPathogenic
LOC102724058, SCN1A
(A1823V +5 more)
Single nucleotide variant
(missense variant +1 more)
Severe myoclonic epilepsy in infancy
+3 more
GConflicting classifications of pathogenicity
SCN1A
(R28C)
Single nucleotide variant
(missense variant +2 more)
Severe myoclonic epilepsy in infancy
+5 more
GConflicting classifications of pathogenicity
LOC102724058, SCN1A
(F1022S +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Severe myoclonic epilepsy in infancy
+5 more
GUncertain significance
SCN1A
(D987E +5 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy 6B
+3 more
GConflicting classifications of pathogenicity
LOC102724058, SCN1A
Single nucleotide variant
(intron variant)
not provided
+6 more
GBenign/Likely benign
SCN1A
Single nucleotide variant
(splice donor variant)
Developmental and epileptic encephalopathy, 76
+7 more
GPathogenic
SCN1A
Single nucleotide variant
(intron variant)
Severe myoclonic epilepsy in infancy
+5 more
GPathogenic
LOC102724058, SCN1A
(R1881* +5 more)
Single nucleotide variant
(nonsense +1 more)
Severe myoclonic epilepsy in infancy
+5 more
GPathogenic
LOC102724058, SCN1A
(K1032fs +5 more)
Microsatellite
(frameshift variant +1 more)
Inborn genetic diseases
+6 more
GPathogenic
LOC102724058, SCN1A
(R1625* +5 more)
Single nucleotide variant
(nonsense +1 more)
Early infantile epileptic encephalopathy with suppression bursts
+4 more
GPathogenic
LOC102724058, SCN1A
(R1234* +5 more)
Single nucleotide variant
(nonsense +1 more)
Migraine, familial hemiplegic, 3
+6 more
GPathogenic
SCN1A
(T226M)
Single nucleotide variant
(missense variant +2 more)
Developmental and epileptic encephalopathy 6B
+6 more
GPathogenic
LOC102724058, SCN1A
(A1772T +5 more)
Single nucleotide variant
(missense variant +1 more)
Generalized epilepsy with febrile seizures plus, type 2
+5 more
GPathogenic
SCN1A
(R393C)
Single nucleotide variant
(missense variant +2 more)
Early infantile epileptic encephalopathy with suppression bursts
+7 more
GPathogenic
SCN1A
(M145T)
Single nucleotide variant
(missense variant +2 more)
Severe myoclonic epilepsy in infancy
+4 more
GPathogenic
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