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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PTEN
(R335* +2 more)
Single nucleotide variant
(nonsense)
Malignant tumor of prostate
+12 more
GPathogenic
BRCA2
(Q1089fs)
Duplication
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(E1308*)
Single nucleotide variant
(nonsense)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(K1453E)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+11 more
GConflicting classifications of pathogenicity
BRCA2
(R1512H)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+11 more
GConflicting classifications of pathogenicity
BRCA2
(W1692fs)
Duplication
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
Deletion
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(R3128*)
Single nucleotide variant
(nonsense)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
CHEK2
(D438Y +4 more)
Single nucleotide variant
(missense variant)
CHEK2-Related Cancer Susceptibility
+11 more
GConflicting classifications of pathogenicity
CHEK2
(T146fs +4 more)
Deletion
(frameshift variant)
Colorectal cancer
+19 more
GPathogenic
CHEK2
(I189V +1 more)
Single nucleotide variant
(missense variant +2 more)
Familial cancer of breast
+6 more
GUncertain significance
CHEK2
(I157T +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+14 more
GConflicting classifications of pathogenicity; risk factor
CHEK2
(R117G +1 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome 2
+14 more
GPathogenic/Likely pathogenic
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