| Nephronophthisis |
C0687120 |
AHI1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
ANKS6
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CEP164
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CEP290
|
Causal
Pathogenic evidence from ClinVar
|
16682970, 16682973, 16909394, 17345604, 17409309, 17564967, 17564974, 17617513, 17964524, 20079931, 20683928, 20690115, 21068128, 21153841, 21245082, 21602930, 22355252, 22693042, 23188109, 23344081, 23351400, 23559409, 23591405, 23847139, 23954617, 25097241, 25445212, 25818971, 25920555, 26047050, 26092869, 26673778, 27353947, 27491411, 28497568, 29398085, 29588463 |
ClinVar |
|
CEP83
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
DCDC2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
FAM186B
|
Causal
Pathogenic evidence from ClinVar
|
26489029 |
ClinVar |
|
GLIS2
|
Causal
Pathogenic evidence from ClinVar
|
18227149, 23559409 |
ClinVar |
|
IFT140
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
INCENP
|
Causal
Pathogenic evidence from ClinVar
|
26489029 |
ClinVar |
|
INVS
|
Causal
Pathogenic evidence from ClinVar
|
12872123, 21866095, 23559409 |
ClinVar |
|
IQCB1
|
Causal
Pathogenic evidence from ClinVar
|
15723066, 19430481, 20881296, 21866095, 23188109, 23446637, 24625443, 24674142, 25851290, 26274329, 28041643, 28832562 |
ClinVar |
|
MAPKBP1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
NEK8
|
Causal
Pathogenic evidence from ClinVar
|
23418306, 26862157 |
ClinVar |
|
NPHP1
|
Causal
Pathogenic evidence from ClinVar
|
15689444, 16762963, 18076122, 22982934 |
ClinVar |
|
NPHP3
|
Causal
Pathogenic evidence from ClinVar
|
12872122, 18371931, 19177160, 19303681, 20007846, 23559409, 26673778 |
ClinVar |
|
NPHP4
|
Causal
Pathogenic evidence from ClinVar
|
12205563, 12244321, 15776426 |
ClinVar |
| Infantile nephronophthisis |
93591 |
ANKS6
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CEP83
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
INVS
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
NEK8
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
NPHP3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Juvenile nephronophthisis |
93592 |
ANKS6
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
GLIS2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
MAPKBP1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
NPHP1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
NPHP4
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| NEPHRONOPHTHISIS 16 |
C3809320 |
ANKS6
|
Causal
Pathogenic evidence from ClinVar
|
2379302, 23793029 |
ClinVar |
| NEPHRONOPHTHISIS 2 |
C1865872 |
ANKS6
|
Causal
Pathogenic evidence from ClinVar
|
23793029 |
ClinVar |
|
CEP83
|
Causal
Pathogenic evidence from ClinVar
|
24882706 |
ClinVar |
|
INVS
|
Causal
Pathogenic evidence from ClinVar
|
12872123, 18076122, 19177160, 20798123, 21866095, 23559409 |
ClinVar |
|
NEK8
|
Causal
Pathogenic evidence from ClinVar
|
18199800 |
ClinVar |
|
NPHP3
|
Causal
Pathogenic evidence from ClinVar
|
18371931, 26184788 |
ClinVar |
| Nephronophthisis, familial juvenile |
C1855681 |
ANKS6
|
Causal
Pathogenic evidence from ClinVar
|
23793029 |
ClinVar |
|
GLIS2
|
Causal
Pathogenic evidence from ClinVar
|
17618285 |
ClinVar |
|
MAPKBP1
|
Causal
Pathogenic evidence from ClinVar
|
28089251 |
ClinVar |
|
NPHP1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| NEPHRONOPHTHISIS 15 |
C3541853 |
CEP164
|
Causal
Pathogenic evidence from ClinVar
|
22863007 |
ClinVar |
| NEPHRONOPHTHISIS 18 |
C3890591 |
CEP83
|
Causal
Pathogenic evidence from ClinVar
|
24882706 |
ClinVar |
| NEPHRONOPHTHISIS 19 |
C4015542 |
DCDC2
|
Causal
Pathogenic evidence from ClinVar
|
22558177, 25557784, 27469900 |
ClinVar |
| NEPHRONOPHTHISIS 7 |
C1969092 |
GLIS2
|
Causal
Pathogenic evidence from ClinVar
|
17618285, 18227149, 23559409 |
ClinVar |
| Nephronophthisis 1 |
C4551979 |
IQCB1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
NPHP1
|
Causal
Pathogenic evidence from ClinVar
|
266900, 9382140, 10839884, 15689444, 22982934 |
ClinVar |
| Late-onset nephronophthisis |
93589 |
MAPKBP1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
NPHP3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| NEPHRONOPHTHISIS 20 |
C4310640 |
MAPKBP1
|
Causal
Pathogenic evidence from ClinVar
|
28089251 |
ClinVar |
| NEPHRONOPHTHISIS 9 |
C3151188 |
NEK8
|
Causal
Pathogenic evidence from ClinVar
|
18199800, 23418306, 26862157 |
ClinVar |
| NEPHRONOPHTHISIS 3 |
C1858392 |
NPHP3
|
Causal
Pathogenic evidence from ClinVar
|
12872122, 28921755 |
ClinVar |
| NEPHRONOPHTHISIS 4 |
C1847013 |
NPHP4
|
Causal
Pathogenic evidence from ClinVar
|
12205563, 12244321, 15776426, 16339905, 17558407, 22550138, 26346198 |
ClinVar |
| Nephronophthisis type 4 |
C2959367 |
NPHP4
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
