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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PKHD1
(S2554*)
Single nucleotide variant
(nonsense)
Polycystic kidney disease 4
GLikely pathogenic
PKHD1, LOC126859690
(S1734fs)
Deletion
(frameshift variant)
Polycystic kidney disease 4
GLikely pathogenic