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Items: 1 to 100 of 165

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHEK2
Single nucleotide variant
(3 prime UTR variant)
Breast and/or ovarian cancer
+5 more
GConflicting classifications of pathogenicity
CHEK2
Single nucleotide variant
(3 prime UTR variant)
not specified
+2 more
GConflicting classifications of pathogenicity
CHEK2
(R535H +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
CHEK2
(T312fs +4 more)
Deletion
(frameshift variant)
Familial cancer of breast
+2 more
GUncertain significance
CHEK2
(E531K +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
CHEK2
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+3 more
GBenign/Likely benign
CHEK2
(E528K +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+8 more
GUncertain significance
CHEK2
(R523C +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+4 more
GUncertain significance
CHEK2
(R521W +4 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
CHEK2
(R519L +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+10 more
GConflicting classifications of pathogenicity
CHEK2
(R519* +4 more)
Single nucleotide variant
(nonsense)
Familial cancer of breast
+6 more
GPathogenic/Likely pathogenic
CHEK2
Single nucleotide variant
(intron variant)
Hereditary breast ovarian cancer syndrome
+5 more
GBenign/Likely benign
CHEK2
(Q514H +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
CHEK2
(L512V +4 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
CHEK2
(P509L +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+3 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
(L287fs +4 more)
Duplication
(frameshift variant)
Familial cancer of breast
GPathogenic/Likely pathogenic
CHEK2
(E504Q +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer
+7 more
GConflicting classifications of pathogenicity
CHEK2
(E501K +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
CHEK2
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
CHEK2
(L277fs +4 more)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
CHEK2
(D497N +4 more)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+5 more
GConflicting classifications of pathogenicity
CHEK2
Single nucleotide variant
(intron variant)
Breast and/or ovarian cancer
+4 more
GConflicting classifications of pathogenicity
CHEK2
Single nucleotide variant
(intron variant)
Hereditary breast ovarian cancer syndrome
+3 more
GBenign/Likely benign
CHEK2
(P484L +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+8 more
GConflicting classifications of pathogenicity
CHEK2
(T476M +4 more)
Single nucleotide variant
(missense variant)
CHEK2-related cancer predisposition
+9 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
(R474H +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
CHEK2
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+5 more
GBenign/Likely benign
CHEK2
(E428fs +4 more)
Duplication
(frameshift variant)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
CHEK2
(I448S +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+4 more
GBenign/Likely benign
CHEK2
(Q439H +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
CHEK2
(Q439H +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+1 more
GUncertain significance
CHEK2
(Q439* +4 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
CHEK2
(D438Y +4 more)
Single nucleotide variant
(missense variant)
CHEK2-related cancer predisposition
+10 more
GConflicting classifications of pathogenicity
CHEK2
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
CHEK2
(S428F +4 more)
Single nucleotide variant
(missense variant)
not provided
+12 more
GConflicting classifications of pathogenicity
CHEK2
(P426S +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CHEK2
(Y424H +4 more)
Single nucleotide variant
(missense variant)
CHEK2-related cancer predisposition
+9 more
GConflicting classifications of pathogenicity
CHEK2
(S422N +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+2 more
GUncertain significance
CHEK2
(S355fs +4 more)
Deletion
(frameshift variant)
CHEK2-related cancer predisposition
+10 more
GPathogenic/Likely pathogenic
CHEK2
Deletion
(intron variant)
Familial cancer of breast
+2 more
GConflicting classifications of pathogenicity
CHEK2
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
CHEK2
(W411* +4 more)
Single nucleotide variant
(nonsense)
Breast and/or ovarian cancer
+4 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
(T401A +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+3 more
GUncertain significance
CHEK2
(V395L +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+4 more
GUncertain significance
CHEK2
(Y390S +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+5 more
GPathogenic/Likely pathogenic
CHEK2
(C385R +4 more)
Single nucleotide variant
(missense variant)
CHEK2-related disorder
+4 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
(E377G +4 more)
Single nucleotide variant
(missense variant)
Breast and/or ovarian cancer
+4 more
GUncertain significance
CHEK2
(K373R +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+3 more
GUncertain significance
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
+2 more
GConflicting classifications of pathogenicity
CHEK2
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign/Likely benign
CHEK2
(E360K +3 more)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+5 more
GUncertain significance
CHEK2
(S356L +3 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
CHEK2
(R346H +3 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
CHEK2
(R346C +3 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+8 more
GUncertain significance
CHEK2
(H345Y +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
CHEK2
(I343T +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GUncertain significance
CHEK2
(L338F +3 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
CHEK2
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+2 more
GBenign/Likely benign
CHEK2
(Y327C +3 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+5 more
GUncertain significance
CHEK2
(K325M +3 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+1 more
GUncertain significance
CHEK2
(T323P +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
CHEK2
(R318C +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
CHEK2
(K317E +3 more)
Single nucleotide variant
(missense variant)
Breast and/or ovarian cancer
+3 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
Deletion
Familial cancer of breast
GPathogenic/Likely pathogenic
CHEK2
Single nucleotide variant
(splice acceptor variant)
Familial cancer of breast
+3 more
GLikely pathogenic
CHEK2
Deletion
(intron variant)
Familial cancer of breast
+1 more
GBenign/Likely benign
CHEK2
Single nucleotide variant
(intron variant)
Familial cancer of breast
+1 more
GLikely benign
CHEK2
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
CHEK2
(E302K +3 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+4 more
GConflicting classifications of pathogenicity
CHEK2
(L301* +3 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
CHEK2
(L301fs +3 more)
Deletion
(frameshift variant)
Colorectal cancer
+3 more
GPathogenic/Likely pathogenic
CHEK2
(Y298* +3 more)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic/Likely pathogenic
CHEK2
(E295del +3 more)
Microsatellite
(inframe_deletion)
not provided
+2 more
GConflicting classifications of pathogenicity
CHEK2
(K330fs +3 more)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
CHEK2
(C284Y +3 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
CHEK2
Single nucleotide variant
(intron variant)
Familial cancer of breast
GConflicting classifications of pathogenicity
CHEK2
Single nucleotide variant
(intron variant)
Familial cancer of breast
+7 more
GBenign/Likely benign
CHEK2
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
CHEK2
Single nucleotide variant
(splice donor variant)
CHEK2-related cancer predisposition
+3 more
GPathogenic/Likely pathogenic
CHEK2
Single nucleotide variant
(splice acceptor variant)
Malignant tumor of prostate
+6 more
GPathogenic/Likely pathogenic
CHEK2
Single nucleotide variant
(intron variant)
Familial cancer of breast
+2 more
GBenign/Likely benign
CHEK2
Single nucleotide variant
(intron variant)
Familial cancer of breast
+2 more
GBenign/Likely benign
CHEK2
(S252N +3 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+7 more
GConflicting classifications of pathogenicity
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
(C243R +3 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+4 more
GConflicting classifications of pathogenicity
CHEK2
(L236P +3 more)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+5 more
GLikely pathogenic
CHEK2
(A230S +3 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
CHEK2
Single nucleotide variant
(splice donor variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
CHEK2
(M222T +2 more)
Single nucleotide variant
(missense variant +2 more)
Familial cancer of breast
+1 more
GUncertain significance
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