| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant +1 more) | Developmental and epileptic encephalopathy, 44 | |
| | NPHP3, NPHP3-ACAD11 (E1156*) | Single nucleotide variant (non-coding transcript variant +1 more) | Renal-hepatic-pancreatic dysplasia 1 | |
| | | Deletion (splice acceptor variant) | Renal-hepatic-pancreatic dysplasia 1 +4 more | GPathogenic/Likely pathogenic |
| | NPHP3, NPHP3-ACAD11 (R898G) | Single nucleotide variant (non-coding transcript variant +1 more) | Renal-hepatic-pancreatic dysplasia 1 | |
| | LOC129937586, NPHP3
+2 more (S59L) | Single nucleotide variant (non-coding transcript variant +1 more) | Renal-hepatic-pancreatic dysplasia 1 | |
Click to view in NCBI Gene