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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PKHD1
(G2402fs)
Duplication
(frameshift variant)
Polycystic kidney disease 4
GLikely pathogenic
PKHD1
(I2331K)
Single nucleotide variant
(missense variant)
Polycystic kidney disease 4
+2 more
GPathogenic/Likely pathogenic