U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DEPDC5
(R674C +1 more)
Single nucleotide variant
(missense variant +2 more)
DEPDC5-related disorder
+4 more
GBenign/Likely benign
DEPDC5
(R760* +3 more)
Single nucleotide variant
(nonsense +1 more)
See cases
+3 more
GPathogenic
DEPDC5
(R843* +3 more)
Single nucleotide variant
(nonsense +1 more)
Epilepsy, familial focal, with variable foci 1
+3 more
GPathogenic/Likely pathogenic
DEPDC5
(S1054F +6 more)
Single nucleotide variant
(missense variant +1 more)
Familial focal epilepsy with variable foci
+3 more
GUncertain significance
DEPDC5
Single nucleotide variant
(intron variant)
Familial focal epilepsy with variable foci
+1 more
GLikely benign
Format
Sort by
Choose Destination