| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | NPHP3-ACAD11, UBA5 (M57V +1 more) | Single nucleotide variant (missense variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | NPHP3, NPHP3-ACAD11 (R1207*) | Single nucleotide variant (non-coding transcript variant +1 more) | NPHP3-related Meckel-like syndrome +1 more | |
| | | Deletion (splice acceptor variant) | Renal-hepatic-pancreatic dysplasia 1 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Nephronophthisis +3 more | GConflicting classifications of pathogenicity |
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