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Items: 1 to 100 of 205

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CKAP2L, NT5DC4
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GBenign
CKAP2L, NT5DC4
(A733V +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CKAP2L, NT5DC4
(R564H +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GBenign
CKAP2L, NT5DC4
(R564C +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GBenign
NT5DC4, CKAP2L
(C560S +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CKAP2L, NT5DC4
(H542N +1 more)
Single nucleotide variant
(missense variant +3 more)
Inborn genetic diseases
GUncertain significance
CKAP2L, NT5DC4
(E541D +1 more)
Single nucleotide variant
(missense variant +3 more)
not provided
GBenign
CKAP2L, NT5DC4
(E541Q +1 more)
Single nucleotide variant
(missense variant +3 more)
Inborn genetic diseases
GUncertain significance
CKAP2L, NT5DC4
(L539P +1 more)
Single nucleotide variant
(missense variant +3 more)
not provided
GUncertain significance
CKAP2L, NT5DC4
Single nucleotide variant
(synonymous variant +3 more)
not provided
GLikely benign
CKAP2L, NT5DC4
(R530Q +1 more)
Single nucleotide variant
(missense variant +3 more)
not provided
GBenign
CKAP2L, NT5DC4
(S526L +1 more)
Single nucleotide variant
(missense variant +3 more)
Inborn genetic diseases
GUncertain significance
CKAP2L, NT5DC4
Single nucleotide variant
(synonymous variant +3 more)
not provided
GLikely benign
CKAP2L, NT5DC4
(R524H +1 more)
Single nucleotide variant
(missense variant +3 more)
not provided
GUncertain significance
CKAP2L, NT5DC4
(R523Q +1 more)
Single nucleotide variant
(missense variant +3 more)
not provided
+1 more
GUncertain significance
CKAP2L, NT5DC4
Single nucleotide variant
(synonymous variant +3 more)
not provided
GBenign
CKAP2L, NT5DC4
(T520A +1 more)
Single nucleotide variant
(missense variant +3 more)
Inborn genetic diseases
GUncertain significance
CKAP2L, NT5DC4
(P676L +1 more)
Single nucleotide variant
(missense variant +3 more)
not provided
GUncertain significance
CKAP2L, NT5DC4
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
CKAP2L, NT5DC4
Single nucleotide variant
(intron variant)
not provided
GBenign
CKAP2L, NT5DC4
Single nucleotide variant
(intron variant)
not provided
GBenign
CKAP2L, NT5DC4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CKAP2L, NT5DC4
(P505S +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
CKAP2L, NT5DC4
(Y659F +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
CKAP2L, NT5DC4
(E655A +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
CKAP2L, NT5DC4
(T648I +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
NT5DC4, CKAP2L
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
CKAP2L, NT5DC4
(S473F +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CKAP2L, NT5DC4
(S467F +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
CKAP2L, NT5DC4
(E625K +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
CKAP2L, NT5DC4
(S622P +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
NT5DC4, CKAP2L
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
CKAP2L, NT5DC4
(L449S +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GBenign
CKAP2L, NT5DC4
(L449V +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
CKAP2L, NT5DC4
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
CKAP2L, NT5DC4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CKAP2L, NT5DC4
Single nucleotide variant
(intron variant)
not provided
GBenign
CKAP2L, NT5DC4
Single nucleotide variant
(intron variant)
not provided
GBenign
NT5DC4, CKAP2L
Single nucleotide variant
(3 prime UTR variant +1 more)
Filippi syndrome
GPathogenic
CKAP2L, NT5DC4
(L434F +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
CKAP2L, NT5DC4
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
CKAP2L, NT5DC4
Microsatellite
(3 prime UTR variant +1 more)
CKAP2L-related disorder
GLikely benign
CKAP2L
Single nucleotide variant
(intron variant)
not provided
GBenign
CKAP2L
Single nucleotide variant
(intron variant)
not provided
GBenign
CKAP2L
Single nucleotide variant
(intron variant)
not provided
GBenign
CKAP2L
Single nucleotide variant
(intron variant)
not provided
GBenign
CKAP2L
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CKAP2L
(I416V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CKAP2L
(F406S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CKAP2L
(S402R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CKAP2L
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CKAP2L
(L545fs +1 more)
Duplication
(frameshift variant +1 more)
not provided
GLikely pathogenic
CKAP2L
(I541V +1 more)
Single nucleotide variant
(missense variant +1 more)
Filippi syndrome
+1 more
GUncertain significance
CKAP2L
(G370D +1 more)
Single nucleotide variant
(missense variant +1 more)
Filippi syndrome
GLikely pathogenic
CKAP2L
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CKAP2L
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CKAP2L
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CKAP2L
(E533K +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CKAP2L
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CKAP2L
(N358D +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CKAP2L
(S354G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
CKAP2L
(L352P +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CKAP2L
(K347fs +1 more)
Microsatellite
(frameshift variant +1 more)
not specified
GUncertain significance
CKAP2L
(K347del +1 more)
Deletion
(inframe_deletion +1 more)
not provided
GUncertain significance
CKAP2L
(I493T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CKAP2L
(T323fs +1 more)
Deletion
(frameshift variant +1 more)
Intellectual disability
+1 more
GLikely pathogenic
CKAP2L
(M319V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CKAP2L
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
CKAP2L
(R316Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CKAP2L
(K315E +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CKAP2L
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CKAP2L
(Q302E +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CKAP2L
Single nucleotide variant
(intron variant)
not provided
GBenign
CKAP2L
Single nucleotide variant
(intron variant)
not provided
GBenign
CKAP2L
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CKAP2L
(E297V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
CKAP2L
(I455T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CKAP2L
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CKAP2L
(T280A +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CKAP2L
(K434Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CKAP2L
(F266V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CKAP2L
(H430N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CKAP2L
(Q263R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
CKAP2L
(V426I +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CKAP2L
(K256R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CKAP2L
(D254Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CKAP2L
(Q251P +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CKAP2L
(N239D +1 more)
Single nucleotide variant
(missense variant)
CKAP2L-related disorder
GBenign
CKAP2L
(N234D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CKAP2L
(I396V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CKAP2L
(P229R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CKAP2L
(I225fs +1 more)
Deletion
(frameshift variant)
Filippi syndrome
GPathogenic
CKAP2L
(S223L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CKAP2L
(F386Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CKAP2L
(G384A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CKAP2L
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CKAP2L
(I210V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
CKAP2L
(K208E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CKAP2L
(Q205R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CKAP2L
(V203I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
Display optionsSort by LocationDownload
Format
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