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Items: 1 to 100 of 209

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GSTA3, GSTA4
+228 more
Copy number loss
See cases
GPathogenic
BAG2, BEND6
+171 more
Copy number loss
See cases
GPathogenic
CILK1, EFHC1
+119 more
Copy number gain
See cases
GPathogenic
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
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