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 113

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARFGEF1-DT, CPA6
(G267R +1 more)
Single nucleotide variant
(missense variant)
Cerebral palsy
GLikely pathogenic
GRIN2A
(I461N)
Single nucleotide variant
(missense variant)
Landau-Kleffner syndrome
GLikely pathogenic
DEPDC5
Insertion
(inframe_indel +1 more)
Childhood epilepsy with centrotemporal spikes
GPathogenic
DEPDC5
(E689A +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
DEPDC5
Single nucleotide variant
(5 prime UTR variant +1 more)
Childhood epilepsy with centrotemporal spikes
GPathogenic
LOC102724428
(R127W)
Single nucleotide variant
(missense variant)
Childhood epilepsy with centrotemporal spikes
GPathogenic
PLCB1
(H1128Y)
Single nucleotide variant
(missense variant)
Childhood epilepsy with centrotemporal spikes
GPathogenic
SCN1B
(V158L +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 5
+3 more
GUncertain significance
IER3IP1
Single nucleotide variant
(3 prime UTR variant)
IER3IP1-related condition
GBenign
RBFOX3
(Y287* +6 more)
Single nucleotide variant
(nonsense)
Childhood epilepsy with centrotemporal spikes
GPathogenic
STRADA
(S60I +4 more)
Single nucleotide variant
(missense variant +2 more)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
GUncertain significance
STRADA
(P64S +4 more)
Single nucleotide variant
(missense variant +2 more)
Childhood epilepsy with centrotemporal spikes
GPathogenic
STRADA
(A135T +5 more)
Single nucleotide variant
(missense variant +1 more)
Childhood epilepsy with centrotemporal spikes
GPathogenic
MAF, WWOX
(R408W +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 1
+2 more
GUncertain significance
WWOX
(N330K +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 1
+4 more
GUncertain significance
GRIN2A
(P79R)
Single nucleotide variant
(missense variant)
Landau-Kleffner syndrome
GLikely pathogenic
GRIN2A
(C231Y)
Single nucleotide variant
(missense variant)
Landau-Kleffner syndrome
GLikely pathogenic
GRIN2A
Single nucleotide variant
(splice donor variant)
Landau-Kleffner syndrome
GPathogenic
GRIN2A
(C436R)
Single nucleotide variant
(missense variant)
Landau-Kleffner syndrome
+1 more
GPathogenic/Likely pathogenic
GRIN2A
(S547del)
Deletion
(inframe_deletion)
Childhood epilepsy with centrotemporal spikes
GPathogenic
GRIN2A
(P699S)
Single nucleotide variant
(missense variant)
Landau-Kleffner syndrome
GLikely pathogenic
GRIN2A
(A727T)
Single nucleotide variant
(missense variant)
Landau-Kleffner syndrome
+1 more
GPathogenic/Likely pathogenic
GRIN2A
(V734L)
Single nucleotide variant
(missense variant)
Childhood epilepsy with centrotemporal spikes
GPathogenic
GRIN2A
(I904F)
Single nucleotide variant
(missense variant)
Landau-Kleffner syndrome
GUncertain significance
LOC126862279, RBFOX1
(G353S +3 more)
Single nucleotide variant
(missense variant +1 more)
RBFOX1-related condition
+2 more
GLikely benign
RBFOX1
Deletion
(inframe_deletion)
Idiopathic generalized epilepsy
GUncertain significance
RBFOX1
(V180M +2 more)
Single nucleotide variant
(missense variant)
Idiopathic generalized epilepsy
GUncertain significance
CHD2
(A1610V)
Single nucleotide variant
(missense variant)
Childhood epilepsy with centrotemporal spikes
GPathogenic
CHD2
(G50D)
Single nucleotide variant
(missense variant)
Childhood epilepsy with centrotemporal spikes
GPathogenic
GRIN1
(I835T +1 more)
Single nucleotide variant
(missense variant)
Childhood epilepsy with centrotemporal spikes
GPathogenic
SPTAN1
(N2285S +4 more)
Single nucleotide variant
(missense variant)
Childhood epilepsy with centrotemporal spikes
GPathogenic
SPTAN1
(G1618S +3 more)
Single nucleotide variant
(missense variant)
Childhood epilepsy with centrotemporal spikes
GPathogenic
SPTAN1
(R1225W +1 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+3 more
GConflicting classifications of pathogenicity
SPTAN1
(R742C)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
KCNQ3
(A334T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
KCNQ3
(A381V +1 more)
Single nucleotide variant
(missense variant)
Childhood epilepsy with centrotemporal spikes
GPathogenic
CPA6
(K186R)
Single nucleotide variant
(missense variant)
Febrile seizures, familial, 11
GUncertain significance
ASAH1
(R12P)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign/Likely benign
CNTNAP2
(A1193T)
Single nucleotide variant
(missense variant)
Cortical dysplasia-focal epilepsy syndrome
+1 more
GUncertain significance
RELN
(N1931D)
Single nucleotide variant
(missense variant)
Childhood epilepsy with centrotemporal spikes
GPathogenic
SLC26A5-AS1, RELN
(R3326*)
Single nucleotide variant
(nonsense)
Norman-Roberts syndrome
+1 more
GPathogenic
RELN, SLC26A5-AS1
(V3365I)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
EPM2A
(H105R)
Single nucleotide variant
(missense variant +2 more)
Childhood epilepsy with centrotemporal spikes
GPathogenic
GABRG2
(G297R +8 more)
Single nucleotide variant
(missense variant)
Epilepsy, childhood absence 2
+1 more
GPathogenic
PRICKLE2
(Q438H)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy
+2 more
GConflicting classifications of pathogenicity
SLC6A1
(R277H +2 more)
Single nucleotide variant
(missense variant)
Myoclonic-astatic epilepsy
+2 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
(G616R)
Single nucleotide variant
(missense variant)
Generalized epilepsy with febrile seizures plus, type 7
+6 more
GUncertain significance
SCN1A-AS1, SCN9A
(T649M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
SCN2A
(C728R)
Single nucleotide variant
(missense variant)
Childhood epilepsy with centrotemporal spikes
GPathogenic
SZT2
(T2923I +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 18
+1 more
GUncertain significance
SZT2
(R2878W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SZT2
(M2572I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SZT2
(E2314V +1 more)
Single nucleotide variant
(missense variant)
Childhood epilepsy with centrotemporal spikes
GPathogenic
SZT2
(V1923M +1 more)
Single nucleotide variant
(missense variant)
Childhood epilepsy with centrotemporal spikes
GPathogenic
SZT2
(R1782C +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SZT2
(R1665H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SZT2
(R1322W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SZT2
(A1269V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SZT2
(A938T)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 18
+1 more
GUncertain significance
SZT2
(F35L)
Single nucleotide variant
(missense variant)
Childhood epilepsy with centrotemporal spikes
GPathogenic
SLC2A1
(H337L)
Single nucleotide variant
(missense variant)
Childhood epilepsy with centrotemporal spikes
GPathogenic
LOC126805704, SNIP1
(R111C)
Single nucleotide variant
(missense variant)
Psychomotor retardation, epilepsy, and craniofacial dysmorphism
+1 more
GUncertain significance
CHD2
(P1353L)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 94
+3 more
GConflicting classifications of pathogenicity
PRICKLE1
(A34T)
Single nucleotide variant
(missense variant)
Epilepsy, progressive myoclonic, 1B
+1 more
GUncertain significance
RBFOX1
Single nucleotide variant
(intron variant)
Idiopathic generalized epilepsy
GLikely benign
DEPDC5
(S712F +2 more)
Single nucleotide variant
(missense variant +1 more)
Familial focal epilepsy with variable foci
+2 more
GBenign
GRIN2A
(I814T)
Single nucleotide variant
(missense variant)
Landau-Kleffner syndrome
+1 more
GConflicting classifications of pathogenicity
CPA6
(Q207E)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
WWOX
(P252A +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive spinocerebellar ataxia 12
+3 more
GBenign
CHD2
(R1512W)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy 94
+2 more
GConflicting classifications of pathogenicity
ASAH1
(Y223F +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ASAH1
(M210T +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
ARFGEF1-DT, CPA6
(G267R)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 5
+4 more
GConflicting classifications of pathogenicity
RELN
(N1159K)
Single nucleotide variant
(missense variant)
RELN-related condition
+4 more
GBenign/Likely benign
DEPDC5
(S1062G +6 more)
Single nucleotide variant
(missense variant +1 more)
Familial focal epilepsy with variable foci
GUncertain significance
DEPDC5
(T1003P +3 more)
Single nucleotide variant
(missense variant +1 more)
Familial focal epilepsy with variable foci
+2 more
GLikely benign
DEPDC5
(V272L +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial focal epilepsy with variable foci
GUncertain significance
DEPDC5
(V90I)
Single nucleotide variant
(missense variant +1 more)
Familial focal epilepsy with variable foci
GUncertain significance
DEPDC5
(I1120fs +6 more)
Deletion
(frameshift variant +1 more)
Childhood epilepsy with centrotemporal spikes
GPathogenic
DEPDC5
Single nucleotide variant
(intron variant)
DEPDC5-related condition
+4 more
GBenign/Likely benign
DEPDC5
(R674C +1 more)
Single nucleotide variant
(missense variant +2 more)
DEPDC5-related condition
+4 more
GBenign/Likely benign
KCNT1
(R1214Q +1 more)
Single nucleotide variant
(missense variant)
KCNT1-related condition
+5 more
GConflicting classifications of pathogenicity
SCN2A
(E1153K)
Single nucleotide variant
(missense variant)
SCN2A-related disorder
+5 more
GConflicting classifications of pathogenicity
SCARB2
(R27Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
SCARB2
(M337T +1 more)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy
+3 more
GUncertain significance
KCNQ3
(V629L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
KCNQ3
(D755N +1 more)
Single nucleotide variant
(missense variant)
KCNQ3-related condition
+4 more
GBenign/Likely benign
GABRG2
Single nucleotide variant
(intron variant)
Febrile seizures, familial, 8
+2 more
GConflicting classifications of pathogenicity
CNTNAP2
(R884Q)
Single nucleotide variant
(missense variant)
Cortical dysplasia-focal epilepsy syndrome
+2 more
GConflicting classifications of pathogenicity
CNTNAP2
(H764N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CNTNAP2
(Y716C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CNTNAP2
(D417Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PRICKLE1
(S739F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
RELN, SLC26A5-AS1
Single nucleotide variant
(intron variant)
Familial temporal lobe epilepsy 7
+4 more
GConflicting classifications of pathogenicity
SPTAN1
(A1428G +2 more)
Single nucleotide variant
(missense variant)
SPTAN1-related condition
+5 more
GBenign/Likely benign
SCN1A-AS1, SCN9A
(L1267V +1 more)
Single nucleotide variant
(missense variant)
Inherited Erythromelalgia
+8 more
GConflicting classifications of pathogenicity
TBC1D24
(R57C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GConflicting classifications of pathogenicity
SCN1A-AS1, SCN9A
(V1106L +1 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy with febrile seizures plus, type 7
+3 more
GUncertain significance
SPTAN1
Single nucleotide variant
(intron variant)
SPTAN1-related condition
+5 more
GBenign/Likely benign
SPTAN1
(S435A)
Single nucleotide variant
(missense variant)
SPTAN1-related condition
+5 more
GBenign/Likely benign
Format
Items per page
Sort by
Choose Destination