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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OCRL
(R318C +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
OCRL
(R493W +1 more)
Single nucleotide variant
(missense variant)
Dent disease type 2
GPathogenic
OCRL
Deletion
Dent disease type 2
GPathogenic
OCRL
Deletion
Dent disease type 2
GPathogenic
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