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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PKHD1
(C2422G)
Single nucleotide variant
(missense variant)
Autosomal recessive polycystic kidney disease
+2 more
GConflicting classifications of pathogenicity
PKHD1
Single nucleotide variant
(splice donor variant)
Polycystic kidney disease 4
+1 more
GLikely pathogenic