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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
C11orf65, ATM
(L2850*)
Single nucleotide variant
(nonsense +1 more)
not provided
+4 more
GPathogenic/Likely pathogenic
BRCA2
(N2135fs)
Deletion
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(N3124I)
Single nucleotide variant
(missense variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA1
Single nucleotide variant
(splice donor variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(S1512C +75 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
BRCA1, LOC126862571
(D1152N +21 more)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+5 more
GConflicting classifications of pathogenicity
BRCA1, LOC126862571
(E1065fs +20 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(R1028L +20 more)
Single nucleotide variant
(intron variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
BRCA1
(L561fs +20 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GLikely pathogenic
BRCA1
(D430fs +20 more)
Duplication
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
CHEK2
(T146fs +4 more)
Deletion
(frameshift variant)
NICE approved PARP inhibitor treatment
+21 more
GPathogenic
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