U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATM, C11orf65
(R2993*)
Single nucleotide variant
(nonsense +1 more)
Ataxia-telangiectasia syndrome
+4 more
GPathogenic/Likely pathogenic
BRCA2
Deletion
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(E470fs)
Duplication
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
Deletion
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(T1251fs)
Duplication
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
Deletion
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(Y1655*)
Single nucleotide variant
(nonsense)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
Deletion
(nonsense)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
Deletion
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(S1982fs)
Deletion
(frameshift variant)
BRCA2-related cancer predisposition
GPathogenic
BRCA2
(C3198fs)
Deletion
(frameshift variant)
not provided
+3 more
GPathogenic/Likely pathogenic
PALB2
Deletion
(frameshift variant)
not provided
+8 more
GPathogenic
BRCA1
(W1508* +75 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(C856fs +20 more)
Duplication
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(K812fs +20 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(K739* +20 more)
Duplication
(intron variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRIP1
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+6 more
GPathogenic/Likely pathogenic
BRIP1
(S624*)
Single nucleotide variant
(nonsense)
Malignant tumor of breast
+7 more
GPathogenic
CHEK2
(T146fs +4 more)
Deletion
(frameshift variant)
Breast neoplasm
+20 more
GPathogenic
CHEK2
(W93*)
Single nucleotide variant
(nonsense +1 more)
not provided
+4 more
GPathogenic/Likely pathogenic
Format
Items per page
Sort by
Choose Destination