| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Renal-hepatic-pancreatic dysplasia 1 +4 more | GPathogenic/Likely pathogenic |
| | NPHP3, NPHP3-ACAD11 (H883fs) | Deletion (non-coding transcript variant +1 more) | NPHP3-related disorder | |
| | NPHP3, NPHP3-ACAD11 (E212fs) | Duplication (non-coding transcript variant +1 more) | not provided +5 more | GPathogenic/Likely pathogenic |
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