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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BRIP1
Deletion
(nonsense)
Fanconi anemia complementation group J
+4 more
GPathogenic/Likely pathogenic
BRIP1
(Y800*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group J
+4 more
GPathogenic/Likely pathogenic
BRIP1
(L680fs)
Duplication
(frameshift variant)
Familial cancer of breast
+4 more
GPathogenic/Likely pathogenic
BRIP1
(T630fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group J
+3 more
GPathogenic
BRIP1
(C443fs)
Deletion
(frameshift variant)
Carcinoma of pancreas
GPathogenic
BRIP1
(C350fs)
Deletion
(frameshift variant)
Breast and/or ovarian cancer
GPathogenic
BRIP1
(L43fs)
Microsatellite
(frameshift variant)
Familial cancer of breast
+3 more
GPathogenic
BRIP1
Indel
(splice acceptor variant +2 more)
Breast and/or ovarian cancer
GPathogenic
BRIP1
(M1fs)
Deletion
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
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