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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRKCSH
(C100*)
Single nucleotide variant
(nonsense)
Polycystic liver disease 1
GLikely pathogenic
PRKCSH
(I388fs +2 more)
Duplication
(frameshift variant)
Polycystic liver disease 1
GPathogenic