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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCG5, DYNC2LI1
(F630fs)
Deletion
(frameshift variant +1 more)
Sitosterolemia 2
+2 more
GConflicting classifications of pathogenicity
PMS2
(F566fs +7 more)
Deletion
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
GPathogenic
BRCA1
(F630fs +3 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
RYR1
(L631fs)
Deletion
(frameshift variant)
not provided
GPathogenic
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