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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CILK1
(R632* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
CILK1
(A615T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CILK1
(K305T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CILK1
(K220E)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, juvenile myoclonic, susceptibility to, 10
Grisk factor
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