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Items: 1 to 100 of 197

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CILK1
(R632* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
CILK1
(R631Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CILK1
(R631P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CILK1
(A629T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
CILK1
(W624G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CILK1
(R621Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CILK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CILK1
(Q616H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CILK1
(A615T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CILK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CILK1
(P610S +1 more)
Single nucleotide variant
(missense variant +1 more)
CILK1-related disorder
GUncertain significance
CILK1
(Q601R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
CILK1
(T600S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CILK1
(F597I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CILK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CILK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CILK1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CILK1
Single nucleotide variant
(intron variant)
not provided
GBenign
CILK1
Single nucleotide variant
(intron variant)
not provided
GBenign
CILK1
(M568T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CILK1
(M568L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CILK1
(M568V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
CILK1
(G572S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CILK1
(E563* +1 more)
Single nucleotide variant
(nonsense +1 more)
not specified
+1 more
GUncertain significance
CILK1
(P557R +1 more)
Single nucleotide variant
(missense variant +1 more)
Seizure
GUncertain significance
CILK1
(Y555fs +1 more)
Deletion
(frameshift variant +1 more)
Cranioectodermal dysplasia
GPathogenic
CILK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CILK1
(T559A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CILK1
(S548C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CILK1
(T546S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CILK1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CILK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
CILK1
(G526E +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CILK1
(L524F +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CILK1
(F513S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CILK1
(K511E +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CILK1
Single nucleotide variant
(synonymous variant +1 more)
not specified
GUncertain significance
CILK1
(P509S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GBenign/Likely benign
CILK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CILK1
(S507L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CILK1
(I501V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CILK1
Insertion
(intron variant)
not provided
GLikely benign
CILK1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CILK1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CILK1
Single nucleotide variant
(intron variant)
not provided
GBenign
CILK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CILK1
(R494* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
CILK1
(K486T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CILK1
(S490C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
CILK1
Single nucleotide variant
(synonymous variant +1 more)
Epilepsy, juvenile myoclonic, susceptibility to, 10
+1 more
GConflicting classifications of pathogenicity
CILK1
(R476* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
CILK1
(R475W +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CILK1
(Q481H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CILK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
CILK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CILK1
(T471M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
CILK1
(A467S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CILK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CILK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CILK1
(R448S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CILK1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CILK1
Single nucleotide variant
(intron variant)
not provided
+3 more
GUncertain significance
CILK1
(S438R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CILK1
(S429C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CILK1
(S427N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
CILK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
CILK1
(D420E +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CILK1
(D416Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CILK1
(K398R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CILK1
(E396Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CILK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CILK1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CILK1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CILK1
Single nucleotide variant
(intron variant)
not provided
GBenign
CILK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
CILK1
(S384L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CILK1
(H381P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CILK1
(N379D)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CILK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CILK1
Deletion
(inframe_deletion +1 more)
Endocrine-cerebro-osteodysplasia syndrome
+3 more
GBenign/Likely benign
CILK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CILK1
(H363L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CILK1
(S356F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CILK1
(A353V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CILK1
(Y351F)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CILK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CILK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CILK1
(T348M)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
CILK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CILK1
(A340V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CILK1
(R336Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely benign
CILK1
(R332Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CILK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CILK1
(P325L)
Inversion
(missense variant +1 more)
not provided
GUncertain significance
CILK1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
CILK1
(P322A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CILK1
(V320I)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
CILK1
(P319R)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, juvenile myoclonic, susceptibility to, 10
GUncertain significance
CILK1
(I307T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CILK1
(G306A)
Single nucleotide variant
(missense variant +1 more)
See cases
GUncertain significance
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