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Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PTEN
(R130* +1 more)
Single nucleotide variant
(nonsense +1 more)
PTEN-related condition
+8 more
GPathogenic
PTEN
(Q298E +2 more)
Single nucleotide variant
(missense variant)
PTEN hamartoma tumor syndrome
GLikely benign
PTEN
(R335* +2 more)
Single nucleotide variant
(nonsense)
Malignant tumor of prostate
+12 more
GPathogenic
ATM
(Y1252*)
Single nucleotide variant
(nonsense)
Familial cancer of breast
+4 more
GPathogenic/Likely pathogenic
BRCA2
(D777fs)
Duplication
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(D935N)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+12 more
GBenign/Likely benign
BRCA2
Single nucleotide variant
(synonymous variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GBenign
BRCA2
(W1692fs)
Duplication
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(Y2543C)
Single nucleotide variant
(missense variant)
not specified
+13 more
GUncertain significance
BRCA2
(E2663V)
Single nucleotide variant
(missense variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(I2675V)
Single nucleotide variant
(missense variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
Deletion
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA1
(N723D +20 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
CHEK2
(S355fs +4 more)
Deletion
(frameshift variant)
Predisposition to cancer
+10 more
GPathogenic/Likely pathogenic
CHEK2
(H371Y +4 more)
Single nucleotide variant
(missense variant)
CHEK2-related condition
+10 more
GConflicting classifications of pathogenicity
CHEK2
(T146fs +4 more)
Deletion
(frameshift variant)
Colorectal cancer
+19 more
GPathogenic
CHEK2
(Y327C +3 more)
Single nucleotide variant
(missense variant)
CHEK2-related condition
+6 more
GUncertain significance
CHEK2
Single nucleotide variant
(splice acceptor variant)
Familial cancer of breast
+5 more
GPathogenic/Likely pathogenic
CHEK2
(R180C +1 more)
Single nucleotide variant
(missense variant +2 more)
CHEK2-related condition
+8 more
GConflicting classifications of pathogenicity
CHEK2
(I157T +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+14 more
GConflicting classifications of pathogenicity; risk factor
CHEK2
Single nucleotide variant
(splice donor variant)
Melanoma
+11 more
GPathogenic/Likely pathogenic
CHEK2
(R117G +1 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome 2
+14 more
GPathogenic/Likely pathogenic
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