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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NBN
(K137fs +1 more)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+6 more
GPathogenic
ATM, C11orf65
Deletion
(inframe_deletion +1 more)
Ataxia-telangiectasia syndrome
+4 more
GPathogenic/Likely pathogenic
BRCA2
(S1982fs)
Deletion
(frameshift variant)
BRCA2-related cancer predisposition
GPathogenic
BRCA2
(Y2215*)
Single nucleotide variant
(nonsense)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(Q2354*)
Single nucleotide variant
(nonsense)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
Deletion
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
PALB2
(Q377*)
Single nucleotide variant
(nonsense)
Familial cancer of breast
+1 more
GPathogenic/Likely pathogenic
PALB2
Single nucleotide variant
(splice donor variant +1 more)
Familial cancer of breast
GLikely pathogenic
TP53
(R273H +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+1 more
GPathogenic
OOncogenic
TP53
(R175H +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+1 more
GPathogenic
OOncogenic
BRCA1
(H1006fs +20 more)
Deletion
(intron variant +1 more)
Familial cancer of breast
+2 more
GPathogenic
BRCA1
(E23fs)
Microsatellite
(frameshift variant +2 more)
BRCA1-related cancer predisposition
GPathogenic
CHEK2
Single nucleotide variant
(splice donor variant)
Bone osteosarcoma
+12 more
GPathogenic/Likely pathogenic
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