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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PKD1, PKD1-AS1
(R3718Q +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Polycystic kidney disease, adult type
+1 more
GPathogenic
MIR6511B1, PKD1
(F2979del)
Microsatellite
(inframe_deletion)
not provided
+1 more
GLikely pathogenic
PKD1
Deletion
(nonsense)
Autosomal dominant polycystic kidney disease
+1 more
GPathogenic
PKD1
(R2215W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PKD1
(L727P)
Single nucleotide variant
(missense variant)
Polycystic kidney disease 3 with or without polycystic liver disease
+3 more
GConflicting classifications of pathogenicity
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