| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Indel (frameshift variant +1 more) | Tuberous sclerosis 2 | |
| | MIR1225, PKD1
+2 more (R3750Q +1 more) | Single nucleotide variant (missense variant) | Polycystic kidney disease, adult type +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene