| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (splice acceptor variant) | Renal-hepatic-pancreatic dysplasia 1 +4 more | GPathogenic/Likely pathogenic |
| | NPHP3, NPHP3-ACAD11 (E461*) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +4 more | |
| | | Single nucleotide variant (intron variant) | NPHP3-related Meckel-like syndrome | |
Click to view in NCBI Gene