| | | Copy number gain | See cases | |
| | LOC115995524, LOC115995525 +2647 more | Copy number gain | See cases | |
| | LOC129937605, LOC129937606 +484 more | Copy number gain | See cases | |
| | LOC129937518, LOC129937519 +248 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | ACAD11, LOC129937585 +8 more | Copy number loss | See cases | |
| | LOC112903835, LOC112903836 +11 more | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal-hepatic-pancreatic dysplasia 1 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 3 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal-hepatic-pancreatic dysplasia 1 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | NPHP3-related Meckel-like syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | NPHP3-related Meckel-like syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | NPHP3-related Meckel-like syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Renal-hepatic-pancreatic dysplasia 1 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 3 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | NPHP3-related Meckel-like syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Renal-hepatic-pancreatic dysplasia 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Renal-hepatic-pancreatic dysplasia 1 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | NPHP3-related Meckel-like syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 3 +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 3 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 3 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Renal-hepatic-pancreatic dysplasia 1 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | NPHP3-related Meckel-like syndrome +3 more | |
| | | Duplication (3 prime UTR variant) | Nephronophthisis +2 more | |
| | | Deletion (3 prime UTR variant) | Nephronophthisis +2 more | |
| | | Duplication (3 prime UTR variant) | not provided | |
| | | Deletion (3 prime UTR variant) | Nephronophthisis +2 more | |
| | | Deletion (3 prime UTR variant) | not provided | |
| | | Deletion (3 prime UTR variant) | Nephronophthisis +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Renal-hepatic-pancreatic dysplasia 1 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 3 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 3 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 3 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | NPHP3-related Meckel-like syndrome +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 3 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Nephronophthisis 3 +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | NPHP3-related Meckel-like syndrome +2 more | |
| | | Deletion (3 prime UTR variant) | Nephronophthisis +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Kidney disorder | |
| | | Single nucleotide variant (3 prime UTR variant) | NPHP3-related Meckel-like syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | Nephronophthisis | |
| | NPHP3, NPHP3-ACAD11 (F1324S) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified +3 more | GConflicting classifications of pathogenicity |
| | NPHP3, NPHP3-ACAD11 (N1322del) | Deletion (non-coding transcript variant +1 more) | Nephronophthisis +1 more | |
| | NPHP3, NPHP3-ACAD11 (S1320Y) | Single nucleotide variant (non-coding transcript variant +1 more) | Nephronophthisis | |
| | NPHP3-ACAD11, NPHP3 (S1314T) | Single nucleotide variant (non-coding transcript variant +1 more) | NPHP3-related Meckel-like syndrome +5 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | NPHP3, NPHP3-ACAD11 (T1312M) | Single nucleotide variant (non-coding transcript variant +1 more) | Nephronophthisis | |
| | NPHP3, NPHP3-ACAD11 (T1312fs) | Deletion (non-coding transcript variant +1 more) | not provided | |
| | NPHP3, NPHP3-ACAD11 (R1305H) | Single nucleotide variant (non-coding transcript variant +1 more) | Nephronophthisis | |
| | NPHP3, NPHP3-ACAD11 (R1305C) | Single nucleotide variant (non-coding transcript variant +1 more) | Nephronophthisis +6 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Nephronophthisis | |
| | NPHP3, NPHP3-ACAD11 (P1303S) | Single nucleotide variant (non-coding transcript variant +1 more) | Nephronophthisis 3 +3 more | |
| | NPHP3, NPHP3-ACAD11 (A1302S) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | NPHP3, NPHP3-ACAD11 (K1301Q) | Single nucleotide variant (non-coding transcript variant +1 more) | Nephronophthisis +4 more | |
| | NPHP3, NPHP3-ACAD11 (G1300R) | Single nucleotide variant (non-coding transcript variant +1 more) | Nephronophthisis +3 more | |
| | NPHP3, NPHP3-ACAD11 (G1299D) | Single nucleotide variant (non-coding transcript variant +1 more) | Nephronophthisis +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Nephronophthisis | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Nephronophthisis | |
| | NPHP3, NPHP3-ACAD11 (T1295I) | Single nucleotide variant (non-coding transcript variant +1 more) | Nephronophthisis | |
| | NPHP3, NPHP3-ACAD11 (E1292del) | Microsatellite (non-coding transcript variant +1 more) | Nephronophthisis | |
| | NPHP3, NPHP3-ACAD11 (E1292A) | Single nucleotide variant (non-coding transcript variant +1 more) | NPHP3-related Meckel-like syndrome +3 more | |
| | NPHP3, NPHP3-ACAD11 (E1289A) | Single nucleotide variant (non-coding transcript variant +1 more) | Nephronophthisis | |
| | NPHP3-ACAD11, NPHP3 (M1288T) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | NPHP3, NPHP3-ACAD11 (R1286S) | Single nucleotide variant (non-coding transcript variant +1 more) | Nephronophthisis | |
| | NPHP3, NPHP3-ACAD11 (R1286K) | Single nucleotide variant (non-coding transcript variant +1 more) | Nephronophthisis | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Nephronophthisis | |
| | NPHP3, NPHP3-ACAD11 (A1281T) | Single nucleotide variant (non-coding transcript variant +1 more) | Nephronophthisis | |
| | NPHP3, NPHP3-ACAD11 (A1280T) | Single nucleotide variant (non-coding transcript variant +1 more) | Nephronophthisis | |
| | NPHP3-ACAD11, NPHP3 (A1280fs) | Duplication (non-coding transcript variant +1 more) | Nephronophthisis 3 +1 more | GConflicting classifications of pathogenicity |
| | NPHP3, NPHP3-ACAD11 (E1278V) | Single nucleotide variant (non-coding transcript variant +1 more) | Nephronophthisis +3 more | |
| | NPHP3, NPHP3-ACAD11 (E1278Q) | Single nucleotide variant (non-coding transcript variant +1 more) | Nephronophthisis | |
| | NPHP3, NPHP3-ACAD11 (G1275del) | Microsatellite (non-coding transcript variant +1 more) | Nephronophthisis +3 more | GPathogenic/Likely pathogenic |
| | NPHP3, NPHP3-ACAD11 (G1274*) | Single nucleotide variant (non-coding transcript variant +1 more) | Nephronophthisis | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Nephronophthisis +4 more | |
| | | Microsatellite (intron variant) | Nephronophthisis | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis +3 more | |
| | | Deletion (intron variant) | Nephronophthisis | |
| | | Deletion (intron variant) | Nephronophthisis | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Deletion (intron variant) | Nephronophthisis | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis 3 +3 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Nephronophthisis | |
| | | Duplication (splice donor variant) | NPHP3-related disorder | |
| | | Single nucleotide variant (splice donor variant) | Nephronophthisis | |
| | NPHP3, NPHP3-ACAD11 (S1271*) | Duplication (non-coding transcript variant +1 more) | Nephronophthisis | |
| | NPHP3, NPHP3-ACAD11 (L1270P) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +4 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Nephronophthisis | |
| | NPHP3, NPHP3-ACAD11 (V1269M) | Single nucleotide variant (non-coding transcript variant +1 more) | Nephronophthisis 3 +3 more | |
| | NPHP3, NPHP3-ACAD11 (L1267S) | Single nucleotide variant (non-coding transcript variant +1 more) | Nephronophthisis 3 | |
| | NPHP3, NPHP3-ACAD11 (T1263fs) | Deletion (non-coding transcript variant +1 more) | Nephronophthisis | |
| | NPHP3, NPHP3-ACAD11 (T1263A) | Single nucleotide variant (non-coding transcript variant +1 more) | Nephronophthisis | |