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Items: 65

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DEPDC5
(Y7*)
Single nucleotide variant
(nonsense +1 more)
Inborn genetic diseases
+3 more
GPathogenic
DEPDC5
(S19T)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial focal, with variable foci 1
Gnot provided
DEPDC5
Single nucleotide variant
(splice acceptor variant)
Epilepsy, familial focal, with variable foci 1
Gnot provided
DEPDC5
(N45fs)
Duplication
(frameshift variant +1 more)
Epilepsy, familial focal, with variable foci 1
Gnot provided
DEPDC5
(Q54P)
Single nucleotide variant
(missense variant +1 more)
DEPDC5-related condition
+4 more
GConflicting classifications of pathogenicity
DEPDC5
Single nucleotide variant
(splice donor variant)
Familial focal epilepsy with variable foci
GPathogenic
DEPDC5
(V90I)
Single nucleotide variant
(missense variant +1 more)
Familial focal epilepsy with variable foci
GUncertain significance
DEPDC5
Single nucleotide variant
(splice donor variant)
Familial focal epilepsy with variable foci
GPathogenic
DEPDC5
(Q140* +1 more)
Single nucleotide variant
(nonsense +1 more)
Familial focal epilepsy with variable foci
GPathogenic
DEPDC5
(W145* +1 more)
Single nucleotide variant
(nonsense +1 more)
Epilepsy, familial focal, with variable foci 1
Gnot provided
DEPDC5
Single nucleotide variant
(splice acceptor variant)
Epilepsy, familial focal, with variable foci 1
Gnot provided
DEPDC5
(F164del +1 more)
Deletion
(non-coding transcript variant +1 more)
not provided
GPathogenic
DEPDC5
(R137fs +1 more)
Deletion
(frameshift variant +1 more)
Epilepsy, familial focal, with variable foci 1
Gnot provided
DEPDC5
(Q176* +1 more)
Single nucleotide variant
(nonsense +1 more)
Familial focal epilepsy with variable foci
GPathogenic
DEPDC5
Single nucleotide variant
(splice donor variant)
Familial focal epilepsy with variable foci
GPathogenic
DEPDC5
(H214D +1 more)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial focal, with variable foci 1
Gnot provided
DEPDC5
(R239* +1 more)
Single nucleotide variant
(nonsense +1 more)
Familial focal epilepsy with variable foci
+1 more
GPathogenic
DEPDC5
(R243* +1 more)
Single nucleotide variant
(nonsense +1 more)
Familial focal epilepsy with variable foci
+2 more
GPathogenic/Likely pathogenic
DEPDC5
(Q244* +1 more)
Single nucleotide variant
(nonsense +1 more)
Epilepsy, familial focal, with variable foci 1
GPathogenic
DEPDC5
(N233fs +1 more)
Deletion
(frameshift variant +1 more)
Epilepsy, familial focal, with variable foci 1
Gnot provided
DEPDC5
(V272L +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial focal epilepsy with variable foci
GUncertain significance
DEPDC5
(Y281F +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial focal epilepsy with variable foci
+2 more
GConflicting classifications of pathogenicity
DEPDC5
(R258*)
Single nucleotide variant
(nonsense +1 more)
Familial focal epilepsy with variable foci
+2 more
GPathogenic
DEPDC5
(Y306* +1 more)
Single nucleotide variant
(nonsense +1 more)
Epilepsy, familial focal, with variable foci 1
Gnot provided
DEPDC5
(R328* +1 more)
Single nucleotide variant
(nonsense +1 more)
Familial focal epilepsy with variable foci
+3 more
GPathogenic
DEPDC5
(T329fs +1 more)
Deletion
(frameshift variant +1 more)
Epilepsy, familial focal, with variable foci 1
Gnot provided
DEPDC5
(V367fs +1 more)
Duplication
(frameshift variant +1 more)
Epilepsy, familial focal, with variable foci 1
Gnot provided
DEPDC5
(Q372* +1 more)
Single nucleotide variant
(nonsense +1 more)
Epilepsy, familial focal, with variable foci 1
Gnot provided
DEPDC5
(L374fs +1 more)
Deletion
(frameshift variant +1 more)
Epilepsy, familial focal, with variable foci 1
GPathogenic
DEPDC5
Microsatellite
(intron variant)
not provided
+1 more
GBenign
DEPDC5
(R422* +1 more)
Single nucleotide variant
(nonsense +1 more)
Familial focal epilepsy with variable foci
+2 more
GPathogenic
DEPDC5
(R422Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DEPDC5
(A452V +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial focal epilepsy with variable foci
+2 more
GBenign
DEPDC5
(R485Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial focal epilepsy with variable foci
GUncertain significance
DEPDC5
(R487* +1 more)
Single nucleotide variant
(nonsense +1 more)
Familial focal epilepsy with variable foci
+1 more
GPathogenic
DEPDC5
(Q519* +1 more)
Single nucleotide variant
(nonsense +1 more)
Familial focal epilepsy with variable foci
+3 more
GPathogenic
DEPDC5
(Q542P +1 more)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial focal, with variable foci 1
Gnot provided
DEPDC5
(R555* +1 more)
Single nucleotide variant
(nonsense +1 more)
Inborn genetic diseases
+3 more
GPathogenic
DEPDC5
(R587* +1 more)
Single nucleotide variant
(nonsense +1 more)
Familial focal epilepsy with variable foci
+1 more
GPathogenic
DEPDC5
(R637* +1 more)
Single nucleotide variant
(nonsense +2 more)
Familial focal epilepsy with variable foci
+2 more
GConflicting classifications of pathogenicity
DEPDC5
Single nucleotide variant
(splice acceptor variant)
Epilepsy, familial focal, with variable foci 1
GPathogenic
DEPDC5
(Q769fs +3 more)
Deletion
(frameshift variant +1 more)
Epilepsy, familial focal, with variable foci 1
Gnot provided
DEPDC5
(R843* +3 more)
Single nucleotide variant
(nonsense +1 more)
DEPDC5-related condition
+3 more
GPathogenic/Likely pathogenic
DEPDC5
(T864M +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
DEPDC5
(R796* +3 more)
Single nucleotide variant
(nonsense +1 more)
Familial focal epilepsy with variable foci
+2 more
GPathogenic
DEPDC5
(Q1016* +3 more)
Single nucleotide variant
(nonsense +1 more)
Epilepsy, familial focal, with variable foci 1
Gnot provided
DEPDC5
(P1031H +3 more)
Single nucleotide variant
(missense variant +1 more)
DEPDC5-related condition
+2 more
GConflicting classifications of pathogenicity
DEPDC5
(S1073R +3 more)
Single nucleotide variant
(missense variant +1 more)
Familial focal epilepsy with variable foci
+1 more
GUncertain significance
DEPDC5
(T1003P +3 more)
Single nucleotide variant
(missense variant +1 more)
Familial focal epilepsy with variable foci
+2 more
GLikely benign
DEPDC5
(R1087* +3 more)
Single nucleotide variant
(nonsense +1 more)
Familial focal epilepsy with variable foci
+1 more
GPathogenic
DEPDC5
Single nucleotide variant
(intron variant)
DEPDC5-related condition
+4 more
GBenign/Likely benign
DEPDC5
(S1104L +3 more)
Single nucleotide variant
(missense variant +2 more)
Familial focal epilepsy with variable foci
+4 more
GConflicting classifications of pathogenicity
DEPDC5
(I1120fs +6 more)
Deletion
(frameshift variant +1 more)
Childhood epilepsy with centrotemporal spikes
GPathogenic
DEPDC5
(S1054F +6 more)
Single nucleotide variant
(missense variant +1 more)
DEPDC5-related condition
+2 more
GUncertain significance
DEPDC5
(S1062G +6 more)
Single nucleotide variant
(missense variant +1 more)
Familial focal epilepsy with variable foci
GUncertain significance
DEPDC5
Single nucleotide variant
(intron variant)
Epilepsy, familial focal, with variable foci 1
Gnot provided
DEPDC5
(R1168* +6 more)
Single nucleotide variant
(nonsense +1 more)
Familial focal epilepsy with variable foci
+2 more
GPathogenic
DEPDC5
(R1168Q +6 more)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial focal, with variable foci 1
Gnot provided
DEPDC5
(R1232* +6 more)
Single nucleotide variant
(nonsense +1 more)
Familial focal epilepsy with variable foci
+3 more
GPathogenic
DEPDC5
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DEPDC5
(W1369* +6 more)
Single nucleotide variant
(nonsense +1 more)
Autosomal dominant epilepsy
+1 more
GPathogenic
DEPDC5
(A1387fs +6 more)
Deletion
(frameshift variant +1 more)
Epilepsy, familial focal, with variable foci 1
Gnot provided
DEPDC5
(W1366* +6 more)
Single nucleotide variant
(nonsense +1 more)
Familial focal epilepsy with variable foci
+1 more
GPathogenic
DEPDC5
(Q1423* +6 more)
Single nucleotide variant
(nonsense +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
DEPDC5
(Q1436* +6 more)
Single nucleotide variant
(nonsense +1 more)
Epilepsy, familial focal, with variable foci 1
Gnot provided
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