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Items: 76

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHEK2
(R302fs +4 more)
Deletion
(frameshift variant)
Familial cancer of breast
+6 more
GUncertain significance
CHEK2
(R523C +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
CHEK2
(R519L +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer
+10 more
GConflicting classifications of pathogenicity
CHEK2
(T296I +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+1 more
GUncertain significance
CHEK2
(P509S +4 more)
Single nucleotide variant
(missense variant)
CHEK2-related disorder
+7 more
GConflicting classifications of pathogenicity
CHEK2
(D497N +4 more)
Single nucleotide variant
(missense variant)
CHEK2-related disorder
+4 more
GConflicting classifications of pathogenicity
CHEK2
(P484L +4 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 2
+9 more
GConflicting classifications of pathogenicity
CHEK2
(T477I +4 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
CHEK2
Deletion
(inframe_deletion)
Familial cancer of breast
+3 more
GConflicting classifications of pathogenicity
CHEK2
(T476M +4 more)
Single nucleotide variant
(missense variant)
CHEK2-related cancer predisposition
+10 more
GConflicting classifications of pathogenicity
CHEK2
(F475I +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+8 more
GConflicting classifications of pathogenicity
CHEK2
(V469A +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+3 more
GUncertain significance
CHEK2
(K464R +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
CHEK2
(E428fs +4 more)
Duplication
(frameshift variant)
CHEK2-related disorder
+3 more
GPathogenic/Likely pathogenic
CHEK2
(D438Y +4 more)
Single nucleotide variant
(missense variant)
CHEK2-related cancer predisposition
+11 more
GConflicting classifications of pathogenicity
CHEK2
(S428F +4 more)
Single nucleotide variant
(missense variant)
Malignant tumor of prostate
+12 more
GPathogenic/Likely pathogenic/Pathogenic, low penetrance/Established risk allele
CHEK2
(Y424H +4 more)
Single nucleotide variant
(missense variant)
CHEK2-related cancer predisposition
+9 more
GConflicting classifications of pathogenicity
CHEK2
(R406S +4 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
CHEK2
(R406C +4 more)
Single nucleotide variant
(missense variant)
CHEK2-related disorder
+8 more
GConflicting classifications of pathogenicity
CHEK2
(V395I +4 more)
Single nucleotide variant
(missense variant)
CHEK2-related disorder
+2 more
GUncertain significance
CHEK2
(C385Y +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
CHEK2
(C385R +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
CHEK2
(T378I +4 more)
Single nucleotide variant
(missense variant)
CHEK2-related disorder
+7 more
GConflicting classifications of pathogenicity
CHEK2
(H371Y +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+10 more
GConflicting classifications of pathogenicity
CHEK2
(T146fs +4 more)
Deletion
(frameshift variant)
Colitis
+19 more
GPathogenic
CHEK2
(S356L +3 more)
Single nucleotide variant
(missense variant +1 more)
Malignant tumor of prostate
+5 more
GUncertain significance
CHEK2
Single nucleotide variant
(synonymous variant +1 more)
CHEK2-related disorder
+2 more
GLikely benign
CHEK2
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GLikely benign
CHEK2
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
+2 more
GLikely benign
CHEK2
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
+2 more
GLikely benign
CHEK2
(Y327C +3 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
CHEK2
(R318H +3 more)
Single nucleotide variant
(missense variant)
Breast and/or ovarian cancer
+9 more
GUncertain significance
CHEK2
(G306E +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
CHEK2
(M304T +3 more)
Single nucleotide variant
(missense variant)
CHEK2-related disorder
+4 more
GUncertain significance
CHEK2
(M304V +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
CHEK2
Single nucleotide variant
(intron variant)
not specified
+3 more
GConflicting classifications of pathogenicity
CHEK2
(E302D +3 more)
Single nucleotide variant
(missense variant)
CHEK2-related disorder
+8 more
GUncertain significance
CHEK2
(F291I +3 more)
Single nucleotide variant
(missense variant)
CHEK2-related disorder
+2 more
GUncertain significance
CHEK2
(P199T +3 more)
Single nucleotide variant
(missense variant)
CHEK2-related disorder
+6 more
GUncertain significance
CHEK2
(E239K +3 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+9 more
GUncertain significance
CHEK2
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
+4 more
GLikely benign
CHEK2
(I221V +1 more)
Single nucleotide variant
(missense variant +2 more)
Familial cancer of breast
+3 more
GConflicting classifications of pathogenicity
CHEK2
Single nucleotide variant
(intron variant)
CHEK2-related disorder
GLikely benign
CHEK2
(E149*)
Single nucleotide variant
(nonsense +1 more)
CHEK2-related disorder
GUncertain significance
CHEK2
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
CHEK2
Single nucleotide variant
(intron variant)
Malignant tumor of breast
+6 more
GConflicting classifications of pathogenicity
CHEK2
(V198L +1 more)
Single nucleotide variant
(missense variant +2 more)
CHEK2-related disorder
+2 more
GConflicting classifications of pathogenicity
CHEK2
(V241fs +1 more)
Deletion
(frameshift variant +2 more)
CHEK2-related disorder
+7 more
GPathogenic/Likely pathogenic
CHEK2
(N186H +1 more)
Single nucleotide variant
(missense variant +2 more)
Familial cancer of breast
+8 more
GConflicting classifications of pathogenicity
CHEK2
(L183F +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+4 more
GConflicting classifications of pathogenicity
CHEK2
(R180C +1 more)
Single nucleotide variant
(missense variant +2 more)
CHEK2-related cancer predisposition
+8 more
GConflicting classifications of pathogenicity
CHEK2
Single nucleotide variant
(synonymous variant +2 more)
not provided
+5 more
GBenign/Likely benign
CHEK2
(I160M +1 more)
Single nucleotide variant
(missense variant +2 more)
CHEK2-related cancer predisposition
+6 more
GConflicting classifications of pathogenicity
CHEK2
(I157T +1 more)
Single nucleotide variant
(missense variant +2 more)
Malignant tumor of prostate
+14 more
GConflicting classifications of pathogenicity; risk factor
CHEK2
Single nucleotide variant
(intron variant)
CHEK2-related disorder
GLikely benign
CHEK2
(H143R +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+4 more
GUncertain significance
CHEK2
(D134G +1 more)
Single nucleotide variant
(missense variant +1 more)
CHEK2-related disorder
+2 more
GConflicting classifications of pathogenicity
CHEK2
(R117G +1 more)
Single nucleotide variant
(missense variant +1 more)
CHEK2-related cancer predisposition
+14 more
GPathogenic/Likely pathogenic
CHEK2
(V109M +1 more)
Single nucleotide variant
(missense variant +1 more)
CHEK2-related disorder
+2 more
GUncertain significance
CHEK2
Single nucleotide variant
(intron variant)
CHEK2-related cancer predisposition
+7 more
GConflicting classifications of pathogenicity
CHEK2
Single nucleotide variant
(intron variant)
CHEK2-related disorder
GLikely benign
CHEK2
Single nucleotide variant
(intron variant)
CHEK2-related disorder
GLikely benign
CHEK2
(R144L)
Single nucleotide variant
(missense variant +1 more)
CHEK2-related disorder
GUncertain significance
CHEK2
(R144Q)
Single nucleotide variant
(missense variant +1 more)
CHEK2-related disorder
+2 more
GConflicting classifications of pathogenicity
CHEK2
(P143R)
Single nucleotide variant
(missense variant +1 more)
CHEK2-related disorder
GUncertain significance
CHEK2
Single nucleotide variant
(synonymous variant +1 more)
CHEK2-related disorder
+1 more
GLikely benign
CHEK2
Single nucleotide variant
(intron variant +1 more)
CHEK2-related disorder
GUncertain significance
CHEK2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GLikely benign
CHEK2
Single nucleotide variant
(synonymous variant +1 more)
CHEK2-related disorder
+2 more
GLikely benign
CHEK2
(E64K)
Single nucleotide variant
(missense variant +1 more)
CHEK2-related cancer predisposition
+10 more
GConflicting classifications of pathogenicity
CHEK2
(T45R)
Single nucleotide variant
(missense variant +1 more)
CHEK2-related disorder
+2 more
GUncertain significance
CHEK2
(P21T)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
CHEK2
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GLikely benign
CHEK2
(D6fs)
Deletion
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
CHEK2
Single nucleotide variant
(5 prime UTR variant)
CHEK2-related disorder
+4 more
GConflicting classifications of pathogenicity
CHEK2
Single nucleotide variant
(5 prime UTR variant)
Familial cancer of breast
+8 more
GConflicting classifications of pathogenicity
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