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Links from MedGen

Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BRIP1
(R581*)
Single nucleotide variant
(nonsense)
BRIP1-related disorder
+6 more
GPathogenic
BRIP1
Single nucleotide variant
(intron variant)
Familial cancer of breast
+4 more
GConflicting classifications of pathogenicity
BRIP1
Deletion
(frameshift variant)
BRIP1-associated familial cancer predisposition
+6 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(T2911I)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+3 more
GConflicting classifications of pathogenicity
BRIP1
(R798*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+9 more
GPathogenic/Likely pathogenic
BRIP1
(M299I)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group J
+2 more
GUncertain significance
BRIP1
(P47A)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+7 more
GConflicting classifications of pathogenicity
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