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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DEPDC5
(R674C +1 more)
Single nucleotide variant
(missense variant +2 more)
Epilepsy, familial focal, with variable foci 1
+4 more
GBenign/Likely benign
DEPDC5
(R760* +3 more)
Single nucleotide variant
(nonsense +1 more)
Inborn genetic diseases
+4 more
GPathogenic
DEPDC5
(R843* +3 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+2 more
GPathogenic
DEPDC5
(S1054F +6 more)
Single nucleotide variant
(missense variant +1 more)
DEPDC5-related disorder
+3 more
GUncertain significance
DEPDC5
Single nucleotide variant
(intron variant)
Epilepsy, familial focal, with variable foci 1
+1 more
GLikely benign
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