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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BRIP1
(G1155E)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
BRIP1
(D1148E)
Single nucleotide variant
(missense variant)
Neoplasm of ovary
+6 more
GConflicting classifications of pathogenicity
BRIP1
(A1125del)
Deletion
(inframe_deletion)
not specified
+5 more
GUncertain significance
BRIP1
Deletion
(nonsense)
Fanconi anemia complementation group J
+4 more
GPathogenic/Likely pathogenic
BRIP1
(R823S)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
BRIP1
(R798*)
Single nucleotide variant
(nonsense)
not provided
+9 more
GPathogenic/Likely pathogenic
BRIP1
(Q740H)
Single nucleotide variant
(missense variant)
BRIP1-related disorder
+8 more
GConflicting classifications of pathogenicity
BRIP1
(I691L)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group J
+5 more
GUncertain significance
BRIP1
(P619fs)
Insertion
(frameshift variant)
Neoplasm of ovary
+4 more
GPathogenic/Likely pathogenic
BRIP1
(R439*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+5 more
GPathogenic
BRIP1
(Y352H)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+4 more
GUncertain significance
BRIP1
(T167I)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
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