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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CILK1
(Q601R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CILK1
(M568V +1 more)
Single nucleotide variant
(missense variant +1 more)
CILK1-related condition
+1 more
GConflicting classifications of pathogenicity
CILK1
(E563* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
CILK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
CILK1
(T471M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CILK1
Deletion
(inframe_deletion +1 more)
not specified
+4 more
GBenign/Likely benign
CILK1
Deletion
(splice donor variant)
CILK1-related condition
+2 more
GBenign/Likely benign
CILK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
CILK1
(R262K)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CILK1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GBenign/Likely benign
CILK1
Single nucleotide variant
(synonymous variant +1 more)
CILK1-related condition
+2 more
GBenign/Likely benign
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