| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | NPHP3, NPHP3-ACAD11 (W587*) | Single nucleotide variant (non-coding transcript variant +1 more) | Renal-hepatic-pancreatic dysplasia 1 | |
| | LOC129937586, NPHP3
+2 more (G24fs) | Deletion (frameshift variant +1 more) | Renal-hepatic-pancreatic dysplasia 1 | |
Click to view in NCBI Gene