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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PKD2
(V233I)
Single nucleotide variant
(missense variant +1 more)
Polycystic kidney disease 2
GUncertain significance
PKD2
(R496H)
Single nucleotide variant
(missense variant +1 more)
Polycystic kidney disease 2
GUncertain significance
PKD2
(R592*)
Single nucleotide variant
(nonsense +1 more)
Autosomal dominant polycystic kidney disease
+2 more
GPathogenic
PKD2
(R872*)
Single nucleotide variant
(nonsense +1 more)
Polycystic kidney disease 2
+3 more
GPathogenic
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