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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BICRA
(H504fs)
Insertion
(frameshift variant)
Coffin-Siris syndrome 12
GLikely pathogenic
PKD1
(I3167F)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
+3 more
GConflicting classifications of pathogenicity
BRCA2
(L2512F)
Single nucleotide variant
(missense variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GBenign
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