| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | NPHP1, LOC126806306 (Q323fs +4 more) | Deletion (frameshift variant) | Joubert syndrome with renal defect | |
| | NPHP1, LOC126806306 (Q323* +4 more) | Single nucleotide variant (nonsense) | Joubert syndrome with renal defect | |
| | LOC126806306, NPHP1 (K377fs +4 more) | Deletion (frameshift variant) | Nephronophthisis +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Joubert syndrome with renal defect | |
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