| Joubert syndrome |
475 |
AHI1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
ARL13B
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
ARL3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
ARMC9
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
B9D1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CEP104
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CEP120
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CEP41
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CPLANE1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CSPP1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
INPP5E
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
KATNIP
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
KIAA0586
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
MKS1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Joubert syndrome 1 |
C4551568 |
AHI1
|
Causal
Pathogenic evidence from ClinVar
|
22693042 |
ClinVar |
|
ARL13B
|
Causal
Pathogenic evidence from ClinVar
|
18674751 |
ClinVar |
|
ARL3
|
Causal
Pathogenic evidence from ClinVar
|
30269812 |
ClinVar |
|
ARMC9
|
Causal
Pathogenic evidence from ClinVar
|
28625504 |
ClinVar |
|
B9D1
|
Causal
Pathogenic evidence from ClinVar
|
24886560 |
ClinVar |
|
CC2D2A
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CEP104
|
Causal
Pathogenic evidence from ClinVar
|
26477546 |
ClinVar |
|
CEP120
|
Causal
Pathogenic evidence from ClinVar
|
27208211 |
ClinVar |
|
CEP290
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CEP41
|
Causal
Pathogenic evidence from ClinVar
|
22246503 |
ClinVar |
|
CPLANE1
|
Causal
Pathogenic evidence from ClinVar
|
22425360, 22693042 |
ClinVar |
|
CSPP1
|
Causal
Pathogenic evidence from ClinVar
|
24360803, 24360808 |
ClinVar |
|
INPP5E
|
Causal
Pathogenic evidence from ClinVar
|
19668216, 23022135, 23034536, 23386033, 26092869, 26748598, 29052317, 31173343 |
ClinVar |
|
KATNIP
|
Causal
Pathogenic evidence from ClinVar
|
26714646 |
ClinVar |
|
KIAA0586
|
Causal
Pathogenic evidence from ClinVar
|
26096313 |
ClinVar |
|
MICALL2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
MKS1
|
Causal
Pathogenic evidence from ClinVar
|
24886560 |
ClinVar |
| JOUBERT SYNDROME 17 |
C3553264 |
AHI1
|
Causal
Pathogenic evidence from ClinVar
|
16453322 |
ClinVar |
|
ARL3
|
Causal
Pathogenic evidence from ClinVar
|
30269812 |
ClinVar |
|
CEP104
|
Causal
Pathogenic evidence from ClinVar
|
26477546 |
ClinVar |
|
CPLANE1
|
Causal
Pathogenic evidence from ClinVar
|
22425360, 23012439, 24091540, 24178751, 25407461, 25920555, 26092869, 26477546, 27434533, 28125082, 28289185, 28431631, 29321670 |
ClinVar |
|
KIAA0586
|
Causal
Pathogenic evidence from ClinVar
|
26437029 |
ClinVar |
| JOUBERT SYNDROME 3 |
C1837713 |
AHI1
|
Causal
Pathogenic evidence from ClinVar
|
1341417, 15322546, 15467982, 16155189, 16453322, 21623382, 23532844, 25445212, 26092869, 28431631, 28442542 |
ClinVar |
| JOUBERT SYNDROME 8 (disorder) |
C2676771 |
ARL13B
|
Causal
Pathogenic evidence from ClinVar
|
16541367, 18674751, 25138100, 26092869, 29255182 |
ClinVar |
| JOUBERT SYNDROME 35 |
C4748442 |
ARL3
|
Causal
Pathogenic evidence from ClinVar
|
30269812 |
ClinVar |
| JOUBERT SYNDROME 30 |
C4539937 |
ARMC9
|
Causal
Pathogenic evidence from ClinVar
|
28625504 |
ClinVar |
| JOUBERT SYNDROME 27 |
C4310706 |
B9D1
|
Causal
Pathogenic evidence from ClinVar
|
21493627, 24886560, 25920555 |
ClinVar |
| JOUBERT SYNDROME 9 (disorder) |
C2676788 |
CC2D2A
|
Causal
Pathogenic evidence from ClinVar
|
18387594, 18513680, 18950740, 19574260, 19777577, 22241855, 22246503, 22425360, 23012439, 26092869, 26477546, 27959436 |
ClinVar |
| JOUBERT SYNDROME 25 |
C4084842 |
CEP104
|
Causal
Pathogenic evidence from ClinVar
|
26477546 |
ClinVar |
| JOUBERT SYNDROME 31 |
C4540355 |
CEP120
|
Causal
Pathogenic evidence from ClinVar
|
27208211 |
ClinVar |
| JOUBERT SYNDROME 5 |
C1857780 |
CEP290
|
Causal
Pathogenic evidence from ClinVar
|
16682970, 16682973, 16909394, 17345604, 17409309, 17564974, 18327255, 20690115, 22425360, 26092869, 26166481, 26477546, 30055837 |
ClinVar |
| JOUBERT SYNDROME 15 |
C3280897 |
CEP41
|
Causal
Pathogenic evidence from ClinVar
|
22246503 |
ClinVar |
| JOUBERT SYNDROME 21 |
C3810212 |
CSPP1
|
Causal
Pathogenic evidence from ClinVar
|
24360803, 24360807, 24360808, 26092869 |
ClinVar |
| JOUBERT SYNDROME 26 |
C4084843 |
KATNIP
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| JOUBERT SYNDROME 23 |
C4084822 |
KIAA0586
|
Causal
Pathogenic evidence from ClinVar
|
26026149, 26096313, 26166481, 26386044, 26386247, 26429889, 26437029, 26938784, 28497568 |
ClinVar |
| JOUBERT SYNDROME 28 |
C4310705 |
MKS1
|
Causal
Pathogenic evidence from ClinVar
|
4886560, 16415886, 17377820, 17397051, 17437276, 21228398, 23351400, 24886560, 26092869, 26490104, 27570071 |
ClinVar |
