| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | NPHP3, NPHP3-ACAD11 (W606*) | Single nucleotide variant (non-coding transcript variant +1 more) | Nephronophthisis +4 more | GPathogenic/Likely pathogenic |
| | NPHP3, NPHP3-ACAD11 (C329R) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | GConflicting classifications of pathogenicity |
| | NPHP3-ACAD11, NPHP3 (L325P) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | GConflicting classifications of pathogenicity |
| | NPHP3, NPHP3-ACAD11 (T136fs) | Deletion (non-coding transcript variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
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