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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RET
(R982C +17 more)
Single nucleotide variant
(missense variant)
not provided
+11 more
GConflicting classifications of pathogenicity
BRCA2
(I605fs)
Duplication
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(N1747*)
Duplication
(nonsense)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(L1908fs)
Microsatellite
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(N3124I)
Single nucleotide variant
(missense variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA1
(Q1811* +90 more)
Single nucleotide variant
(nonsense +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
Deletion
(splice acceptor variant)
not provided
+6 more
GPathogenic
BRCA1
(S1339fs +2 more)
Duplication
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(Q780* +20 more)
Single nucleotide variant
(intron variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(E720* +20 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(E673* +20 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(V627fs +20 more)
Duplication
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(Q563* +20 more)
Single nucleotide variant
(intron variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(A275fs +20 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(C226fs +1 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(S104fs +1 more)
Deletion
(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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