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Items: 1 to 100 of 204

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DEPDC5
Duplication
Epilepsy, familial focal, with variable foci 1
GUncertain significance
DEPDC5
(R1009fs +3 more)
Deletion
(frameshift variant +1 more)
Epilepsy, familial focal, with variable foci 1
GLikely pathogenic
DEPDC5
(F908fs +3 more)
Deletion
(frameshift variant +1 more)
Epilepsy, familial focal, with variable foci 1
GUncertain significance
DEPDC5
(A436T +1 more)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial focal, with variable foci 1
GUncertain significance
DEPDC5
(E822fs +3 more)
Duplication
(frameshift variant +1 more)
Epilepsy, familial focal, with variable foci 1
GLikely pathogenic
DEPDC5
(P207R +1 more)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial focal, with variable foci 1
GUncertain significance
DEPDC5
(F30fs)
Insertion
(frameshift variant +1 more)
Epilepsy, familial focal, with variable foci 1
GLikely pathogenic
DEPDC5
(I847V +3 more)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial focal, with variable foci 1
GUncertain significance
DEPDC5
Deletion
Epilepsy, familial focal, with variable foci 1
GLikely pathogenic
DEPDC5
(G624D +2 more)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial focal, with variable foci 1
GUncertain significance
DEPDC5
(Q631fs +1 more)
Deletion
(frameshift variant +2 more)
Epilepsy, familial focal, with variable foci 1
GUncertain significance
DEPDC5
Single nucleotide variant
(splice donor variant)
Epilepsy, familial focal, with variable foci 1
GLikely pathogenic
DEPDC5, PRR14L
Copy number loss
Epilepsy, familial focal, with variable foci 1
GLikely pathogenic
DEPDC5
(V123fs +1 more)
Deletion
(frameshift variant +1 more)
Epilepsy, familial focal, with variable foci 1
GPathogenic
DEPDC5
(R258*)
Single nucleotide variant
(nonsense +1 more)
Epilepsy, familial focal, with variable foci 1
+2 more
GPathogenic
DEPDC5
Single nucleotide variant
(synonymous variant +1 more)
Epilepsy, familial focal, with variable foci 1
GLikely pathogenic
DEPDC5
(S856G +3 more)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial focal, with variable foci 1
GLikely pathogenic
DEPDC5
Single nucleotide variant
(splice acceptor variant)
Epilepsy, familial focal, with variable foci 1
GPathogenic
DEPDC5
(T670A +3 more)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial focal, with variable foci 1
GUncertain significance
DEPDC5
(K248fs +1 more)
Deletion
(frameshift variant +1 more)
Epilepsy, familial focal, with variable foci 1
GLikely pathogenic
DEPDC5
(R1263fs +6 more)
Duplication
(frameshift variant +1 more)
Epilepsy, familial focal, with variable foci 1
GLikely pathogenic
DEPDC5
(I38T)
Single nucleotide variant
(missense variant +1 more)
Familial focal epilepsy with variable foci
+1 more
GUncertain significance
DEPDC5
(S831A +3 more)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial focal, with variable foci 1
+1 more
GUncertain significance
DEPDC5
(V1196A +6 more)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial focal, with variable foci 1
GUncertain significance
DEPDC5
(K1497R +6 more)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial focal, with variable foci 1
GUncertain significance
DEPDC5
Indel
(non-coding transcript variant +1 more)
Epilepsy, familial focal, with variable foci 1
GLikely pathogenic
DEPDC5
(W154* +1 more)
Single nucleotide variant
(nonsense +1 more)
Epilepsy, familial focal, with variable foci 1
GPathogenic
DEPDC5
Single nucleotide variant
(splice donor variant)
Epilepsy, familial focal, with variable foci 1
GLikely pathogenic
DEPDC5
Single nucleotide variant
(splice donor variant)
Epilepsy, familial focal, with variable foci 1
GLikely pathogenic
DEPDC5
(T381fs +1 more)
Deletion
(frameshift variant +1 more)
Epilepsy, familial focal, with variable foci 1
GLikely pathogenic
DEPDC5
(P756S +3 more)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial focal, with variable foci 1
GUncertain significance
DEPDC5
(R586* +1 more)
Single nucleotide variant
(nonsense +1 more)
Epilepsy, familial focal, with variable foci 1
GLikely pathogenic
DEPDC5
(Q1030del +3 more)
Microsatellite
(inframe_deletion +1 more)
Epilepsy, familial focal, with variable foci 1
+1 more
GUncertain significance
DEPDC5
Single nucleotide variant
(splice acceptor variant)
Epilepsy, familial focal, with variable foci 1
+1 more
GLikely pathogenic
DEPDC5
(V118fs +1 more)
Duplication
(frameshift variant +1 more)
Epilepsy, familial focal, with variable foci 1
GLikely pathogenic
DEPDC5
Single nucleotide variant
(intron variant)
Epilepsy, familial focal, with variable foci 1
+1 more
GLikely benign
DEPDC5
(N613S +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial focal epilepsy with variable foci
+1 more
GConflicting classifications of pathogenicity
DEPDC5
(G1445S +6 more)
Single nucleotide variant
(missense variant +1 more)
Familial focal epilepsy with variable foci
+1 more
GUncertain significance
DEPDC5
(A990T +3 more)
Single nucleotide variant
(missense variant +1 more)
DEPDC5-related disorder
+1 more
GUncertain significance
DEPDC5
(R845C +3 more)
Single nucleotide variant
(missense variant +1 more)
Familial focal epilepsy with variable foci
+1 more
GUncertain significance
DEPDC5
Single nucleotide variant
(splice donor variant)
Epilepsy, familial focal, with variable foci 1
GLikely pathogenic
DEPDC5
Single nucleotide variant
(intron variant)
Familial focal epilepsy with variable foci
+1 more
GUncertain significance
DEPDC5
(L397P +1 more)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial focal, with variable foci 1
+1 more
GUncertain significance
SCN3A
(K1934Q +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 62
+2 more
GUncertain significance
DEPDC5
(T811I +3 more)
Single nucleotide variant
(missense variant +1 more)
Familial focal epilepsy with variable foci
+1 more
GUncertain significance
DEPDC5
(Q1239* +6 more)
Single nucleotide variant
(nonsense +1 more)
Epilepsy, familial focal, with variable foci 1
GLikely pathogenic
DEPDC5
(Q538fs +1 more)
Deletion
(frameshift variant +1 more)
Epilepsy, familial focal, with variable foci 1
GLikely pathogenic
DEPDC5
(S213L +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial focal epilepsy with variable foci
+2 more
GUncertain significance
DEPDC5
(W1458* +6 more)
Single nucleotide variant
(nonsense +1 more)
Epilepsy, familial focal, with variable foci 1
GPathogenic
DEPDC5
(R459Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 83
+2 more
GUncertain significance
DEPDC5
Single nucleotide variant
(splice acceptor variant)
Epilepsy, familial focal, with variable foci 1
GPathogenic
DEPDC5
(H548fs +1 more)
Duplication
(frameshift variant +1 more)
Epilepsy, familial focal, with variable foci 1
GLikely pathogenic
DEPDC5
Single nucleotide variant
(splice donor variant)
Familial focal epilepsy with variable foci
+1 more
GPathogenic/Likely pathogenic
DEPDC5
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
DEPDC5
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
DEPDC5
Single nucleotide variant
(splice donor variant)
Epilepsy, familial focal, with variable foci 1
GPathogenic
DEPDC5
(H32R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
DEPDC5
(P266S +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial focal epilepsy with variable foci
+1 more
GUncertain significance
DEPDC5
Single nucleotide variant
(intron variant)
Familial focal epilepsy with variable foci
+1 more
GUncertain significance
DEPDC5
(R992H +3 more)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial focal, with variable foci 1
GUncertain significance
DEPDC5
(S626P +1 more)
Single nucleotide variant
(missense variant +2 more)
Familial focal epilepsy with variable foci
+2 more
GUncertain significance
DEPDC5
(I251N +1 more)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial focal, with variable foci 1
GUncertain significance
DEPDC5
(M149R +1 more)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial focal, with variable foci 1
GUncertain significance
DEPDC5
(C1126W +6 more)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial focal, with variable foci 1
GUncertain significance
DEPDC5
(R834W +3 more)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial focal, with variable foci 1
+1 more
GUncertain significance
DEPDC5
Single nucleotide variant
(intron variant)
Epilepsy, familial focal, with variable foci 1
GUncertain significance
DEPDC5
(L610I +1 more)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial focal, with variable foci 1
GUncertain significance
DEPDC5
(D113V)
Single nucleotide variant
(missense variant +2 more)
Epilepsy, familial focal, with variable foci 1
+1 more
GUncertain significance
DEPDC5
(L249F +1 more)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial focal, with variable foci 1
+3 more
GUncertain significance
DEPDC5
(R1443W +6 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
DEPDC5
(F1284fs +6 more)
Deletion
(frameshift variant +1 more)
Epilepsy, familial focal, with variable foci 1
GLikely pathogenic
DEPDC5
(A850V +3 more)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial focal, with variable foci 1
GUncertain significance
DEPDC5
(R1009G +3 more)
Single nucleotide variant
(missense variant +1 more)
Familial focal epilepsy with variable foci
GUncertain significance
DEPDC5
(R411H +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
CLCNKB, LOC106501713
(R76*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic
DEPDC5
(S1055del +6 more)
Microsatellite
(inframe_deletion +1 more)
Epilepsy, familial focal, with variable foci 1
GLikely pathogenic
DEPDC5
(P1503L +6 more)
Single nucleotide variant
(missense variant +1 more)
Familial focal epilepsy with variable foci
+2 more
GUncertain significance
DEPDC5
(S519T +1 more)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial focal, with variable foci 1
+1 more
GUncertain significance
DEPDC5
(T139M +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial focal epilepsy with variable foci
+2 more
GUncertain significance
DEPDC5
(Y163C +1 more)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial focal, with variable foci 1
+3 more
GConflicting classifications of pathogenicity
DEPDC5
(C125R +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial focal epilepsy with variable foci
+2 more
GUncertain significance
DEPDC5
(V438fs +1 more)
Duplication
(frameshift variant +1 more)
Epilepsy, familial focal, with variable foci 1
GLikely pathogenic
DEPDC5
Single nucleotide variant
(intron variant)
Epilepsy, familial focal, with variable foci 1
GUncertain significance
DEPDC5
(Y1222C +6 more)
Single nucleotide variant
(missense variant +1 more)
Familial focal epilepsy with variable foci
+1 more
GUncertain significance
DEPDC5
(R1070C +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
DEPDC5
(I67fs)
Duplication
(frameshift variant +1 more)
Familial focal epilepsy with variable foci
+1 more
GPathogenic
DEPDC5
(D1160V +6 more)
Single nucleotide variant
(missense variant +1 more)
Familial focal epilepsy with variable foci
+1 more
GUncertain significance
DEPDC5
Single nucleotide variant
(splice donor variant)
Epilepsy, familial focal, with variable foci 1
GPathogenic
DEPDC5
Single nucleotide variant
(intron variant)
Epilepsy, familial focal, with variable foci 1
GUncertain significance
DEPDC5
(P806A +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
DEPDC5
(G811V +3 more)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial focal, with variable foci 1
GLikely pathogenic
DEPDC5
(Q232R +1 more)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial focal, with variable foci 1
GUncertain significance
DEPDC5
(G114fs +1 more)
Insertion
(frameshift variant +1 more)
Epilepsy, familial focal, with variable foci 1
GLikely pathogenic
DEPDC5
(S1045N +3 more)
Single nucleotide variant
(missense variant +1 more)
Familial focal epilepsy with variable foci
+1 more
GUncertain significance
DEPDC5
(R1427Q +6 more)
Single nucleotide variant
(missense variant +1 more)
Familial focal epilepsy with variable foci
+1 more
GUncertain significance
DEPDC5
(R1098H +3 more)
Single nucleotide variant
(missense variant +2 more)
Familial focal epilepsy with variable foci
+1 more
GUncertain significance
DEPDC5
(V312fs +1 more)
Deletion
(frameshift variant +1 more)
Familial focal epilepsy with variable foci
+2 more
GPathogenic/Likely pathogenic
DEPDC5
Deletion
Familial focal epilepsy with variable foci
+1 more
GPathogenic
DEPDC5
(M765V +3 more)
Single nucleotide variant
(missense variant +1 more)
Familial focal epilepsy with variable foci
+2 more
GUncertain significance
DEPDC5
Deletion
Familial focal epilepsy with variable foci
+1 more
GPathogenic
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