| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | NPHP3, NPHP3-ACAD11 (Q1136*) | Single nucleotide variant (non-coding transcript variant +1 more) | NPHP3-related Meckel-like syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | NPHP3-related Meckel-like syndrome +1 more | GConflicting classifications of pathogenicity |
| | NPHP3, NPHP3-ACAD11 (R702*) | Single nucleotide variant (non-coding transcript variant +1 more) | NPHP3-related Meckel-like syndrome +5 more | |
| | LOC129937586, NPHP3
+2 more (S79L) | Single nucleotide variant (non-coding transcript variant +1 more) | Nephronophthisis +1 more | |
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