| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | NPHP3, NPHP3-ACAD11 (R1259*) | Single nucleotide variant (non-coding transcript variant +1 more) | Nephronophthisis +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (splice acceptor variant) | Nephronophthisis 3 +5 more | GPathogenic/Likely pathogenic |
| | NPHP3, NPHP3-ACAD11 (G781D) | Single nucleotide variant (non-coding transcript variant +1 more) | Nephronophthisis +3 more | GConflicting classifications of pathogenicity |
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