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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PKD1, PKD1-AS1
(F3887fs +1 more)
Duplication
(non-coding transcript variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
PKD1, PKD1-AS1
(R3718W +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Polycystic kidney disease, adult type
GUncertain significance