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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BRIP1
(D1138G)
Single nucleotide variant
(missense variant)
Hereditary cancer
+3 more
GUncertain significance
BRIP1
Deletion
(nonsense)
Familial ovarian cancer
+5 more
GPathogenic/Likely pathogenic
BRIP1
(R865Q)
Single nucleotide variant
(missense variant)
BRIP1-related disorder
+5 more
GUncertain significance
BRIP1
(Q740H)
Single nucleotide variant
(missense variant)
not provided
+8 more
GConflicting classifications of pathogenicity
BRIP1
(S557F)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group J
+3 more
GUncertain significance
BRIP1
(R419W)
Single nucleotide variant
(missense variant)
not specified
+8 more
GConflicting classifications of pathogenicity
BRIP1
(G344E)
Single nucleotide variant
(missense variant)
Breast carcinoma
+3 more
GUncertain significance
BRIP1
(I243T)
Single nucleotide variant
(missense variant)
Hereditary cancer
+5 more
GConflicting classifications of pathogenicity
BRIP1
(D184Y)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
BRIP1
(S123*)
Single nucleotide variant
(nonsense)
Familial cancer of breast
GUncertain significance
BRIP1
(H107fs)
Deletion
(frameshift variant)
Familial cancer of breast
GUncertain significance
BRIP1
(P47A)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+7 more
GConflicting classifications of pathogenicity
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