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Items: 64

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHEK2
(E528K +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+8 more
GUncertain significance
CHEK2
(R519L +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+10 more
GConflicting classifications of pathogenicity
CHEK2
(L512V +4 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
CHEK2
(P509S +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+7 more
GConflicting classifications of pathogenicity
CHEK2
(E504Q +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer
+7 more
GConflicting classifications of pathogenicity
CHEK2
(P484L +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+8 more
GConflicting classifications of pathogenicity
CHEK2
(F475I +4 more)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+9 more
GConflicting classifications of pathogenicity
CHEK2
(R474C +4 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
CHEK2
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
CHEK2
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
CHEK2
(N446D +4 more)
Single nucleotide variant
(missense variant)
CHEK2-related cancer predisposition
+8 more
GConflicting classifications of pathogenicity
CHEK2
(D438Y +4 more)
Single nucleotide variant
(missense variant)
CHEK2-related cancer predisposition
+10 more
GConflicting classifications of pathogenicity
CHEK2
(S428F +4 more)
Single nucleotide variant
(missense variant)
not provided
+12 more
GConflicting classifications of pathogenicity
CHEK2
(Y424H +4 more)
Single nucleotide variant
(missense variant)
CHEK2-related cancer predisposition
+9 more
GConflicting classifications of pathogenicity
CHEK2
(S355fs +4 more)
Deletion
(frameshift variant)
CHEK2-related cancer predisposition
+10 more
GPathogenic/Likely pathogenic
CHEK2
(R406C +4 more)
Single nucleotide variant
(missense variant)
CHEK2-related disorder
+8 more
GConflicting classifications of pathogenicity
CHEK2
(N405K +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+6 more
GConflicting classifications of pathogenicity
CHEK2
(P393L +4 more)
Single nucleotide variant
(missense variant)
Malignant tumor of prostate
+5 more
GUncertain significance
CHEK2
(M381V +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GUncertain significance
CHEK2
(T378I +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+6 more
GUncertain significance
CHEK2
(H371Y +4 more)
Single nucleotide variant
(missense variant)
Bone osteosarcoma
+10 more
GConflicting classifications of pathogenicity
CHEK2
(T146fs +4 more)
Deletion
(frameshift variant)
NICE approved PARP inhibitor treatment
+21 more
GPathogenic
CHEK2
Single nucleotide variant
(intron variant)
Familial cancer of breast
+6 more
GUncertain significance
CHEK2
(E360K +3 more)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+5 more
GUncertain significance
CHEK2
(R346C +3 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+8 more
GUncertain significance
CHEK2
(G342S +3 more)
Single nucleotide variant
(missense variant +1 more)
Malignant tumor of prostate
+5 more
GUncertain significance
CHEK2
(Y327C +3 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+5 more
GUncertain significance
CHEK2
(T323P +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
CHEK2
(E321A +3 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+6 more
GUncertain significance
CHEK2
(R318H +3 more)
Single nucleotide variant
(missense variant)
not specified
+8 more
GUncertain significance
CHEK2
(V313M +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
CHEK2
(D311N +3 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+7 more
GConflicting classifications of pathogenicity
CHEK2
(G307E +3 more)
Single nucleotide variant
(missense variant)
Bone osteosarcoma
+6 more
GUncertain significance
CHEK2
(E302D +3 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+8 more
GUncertain significance
CHEK2
Single nucleotide variant
(intron variant)
Familial cancer of breast
+7 more
GBenign/Likely benign
CHEK2
(P199T +3 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+6 more
GUncertain significance
CHEK2
Single nucleotide variant
(splice acceptor variant)
Malignant tumor of prostate
+6 more
GPathogenic/Likely pathogenic
CHEK2
(S252N +3 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+7 more
GConflicting classifications of pathogenicity
CHEK2
(I251del +3 more)
Microsatellite
(inframe_deletion)
Familial cancer of breast
+5 more
GUncertain significance
CHEK2
(I251F +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 2
+7 more
GUncertain significance
CHEK2
(I248V +3 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GUncertain significance
CHEK2
(E239K +3 more)
Single nucleotide variant
(missense variant)
not specified
+8 more
GConflicting classifications of pathogenicity
CHEK2
(G229D +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
CHEK2
Single nucleotide variant
(splice acceptor variant)
Hereditary cancer-predisposing syndrome
+6 more
GPathogenic/Likely pathogenic
CHEK2
Single nucleotide variant
(splice acceptor variant +1 more)
Familial cancer of breast
+5 more
GPathogenic/Likely pathogenic
CHEK2
(I189V +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+6 more
GUncertain significance
CHEK2
(N186H +1 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary breast ovarian cancer syndrome
+7 more
GConflicting classifications of pathogenicity
CHEK2
(R181H +1 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary breast ovarian cancer syndrome
+9 more
GConflicting classifications of pathogenicity
CHEK2
Single nucleotide variant
(splice donor variant)
Familial cancer of breast
+5 more
GPathogenic/Likely pathogenic
CHEK2
Single nucleotide variant
(splice donor variant)
Inherited breast cancer and ovarian cancer
+12 more
GPathogenic/Likely pathogenic
CHEK2
(I146L +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+5 more
GUncertain significance
CHEK2
(R145Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+8 more
GUncertain significance
CHEK2
(Y139* +1 more)
Single nucleotide variant
(nonsense +1 more)
Familial cancer of breast
+7 more
GPathogenic
CHEK2
(R137* +1 more)
Single nucleotide variant
(nonsense +1 more)
CHEK2-related cancer predisposition
+8 more
GPathogenic
CHEK2
(D134H +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+6 more
GUncertain significance
CHEK2
(R117G +1 more)
Single nucleotide variant
(missense variant +1 more)
CHEK2-related cancer predisposition
+14 more
GPathogenic/Likely pathogenic
CHEK2
(R144W)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+5 more
GUncertain significance
CHEK2
Single nucleotide variant
(splice donor variant)
RECLASSIFIED - CDH1 POLYMORPHISM
+8 more
GPathogenic/Likely pathogenic
CHEK2
(R95*)
Single nucleotide variant
(nonsense +1 more)
Hereditary breast ovarian cancer syndrome
+8 more
GPathogenic
CHEK2
(Y72*)
Single nucleotide variant
(nonsense +1 more)
Familial cancer of breast
+4 more
GPathogenic
CHEK2
(T59K)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+6 more
GUncertain significance
CHEK2
(S57F)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+6 more
GUncertain significance
CHEK2
(S53T)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+7 more
GConflicting classifications of pathogenicity
CHEK2
(T45M)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+7 more
GUncertain significance
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