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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PKD1
(L4089fs +1 more)
Deletion
(frameshift variant)
Polycystic kidney disease, adult type
GPathogenic/Likely pathogenic
PKD1, PKD1-AS1
(G3763fs +1 more)
Deletion
(frameshift variant)
Polycystic kidney disease, adult type
GLikely pathogenic
PKD1
(Q2243H)
Single nucleotide variant
(missense variant)
Polycystic kidney disease, adult type
GUncertain significance
PKD1
(C1979fs)
Deletion
(frameshift variant)
Polycystic kidney disease, adult type
GLikely pathogenic
PKD1
Single nucleotide variant
(intron variant)
Polycystic kidney disease, adult type
GLikely pathogenic
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