| CILIARY DYSKINESIA, PRIMARY, 14 |
C3151136 |
CCDC39
|
Causal
Pathogenic evidence from ClinVar
|
21131972, 22693285, 23255504, 23891469, 24498942, 24896178, 25186273 |
ClinVar |
|
CCDC40
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Ciliary Motility Disorders |
C0008780 |
CCDC39
|
Causal
Pathogenic evidence from ClinVar
|
2325550, 21131972, 22693285, 22693295, 23255504, 23891469, 24498942, 25186273, 27637300 |
ClinVar |
|
CCDC40
|
Causal
Pathogenic evidence from ClinVar
|
21131974, 22499950, 22693285, 23255504, 23891469, 24498942, 25619595 |
ClinVar |
|
CCDC65
|
Causal
Pathogenic evidence from ClinVar
|
23991085, 24094744, 25802884 |
ClinVar |
|
CCNO
|
Causal
Pathogenic evidence from ClinVar
|
24747639, 24824133, 26139845, 26777464 |
ClinVar |
|
CFAP298
|
Causal
Pathogenic evidence from ClinVar
|
24094744 |
ClinVar |
|
DNAAF1
|
Causal
Pathogenic evidence from ClinVar
|
19944400, 19944405 |
ClinVar |
|
DNAAF11
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
DNAAF2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
DNAAF3
|
Causal
Pathogenic evidence from ClinVar
|
22387996 |
ClinVar |
| Primary ciliary dyskinesia |
244 |
CCDC39
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CCDC40
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CCDC65
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CCNO
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CFAP298
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CFAP300
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
DNAAF1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
DNAAF11
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
DNAAF2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
DNAAF3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Primary Ciliary Dyskinesia |
C4551720 |
CCDC39
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CCDC40
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CCDC65
|
Causal
Pathogenic evidence from ClinVar
|
24094744, 30166424 |
ClinVar |
|
CCNO
|
Causal
Pathogenic evidence from ClinVar
|
24747639, 24824133 |
ClinVar |
|
CFAP298
|
Causal
Pathogenic evidence from ClinVar
|
24094744 |
ClinVar |
|
CFAP300
|
Causal
Pathogenic evidence from ClinVar
|
29727692, 29727693 |
ClinVar |
|
DNAAF1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
DNAAF11
|
Causal
Pathogenic evidence from ClinVar
|
23122589 |
ClinVar |
|
DNAAF2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
DNAAF3
|
Causal
Pathogenic evidence from ClinVar
|
22387996 |
ClinVar |
| Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus |
C4551906 |
CCDC40
|
Causal
Pathogenic evidence from ClinVar
|
21131974 |
ClinVar |
|
CCDC65
|
Causal
Pathogenic evidence from ClinVar
|
24094744 |
ClinVar |
|
CCNO
|
Causal
Pathogenic evidence from ClinVar
|
24747639, 24824133 |
ClinVar |
|
CFAP298
|
Causal
Pathogenic evidence from ClinVar
|
24094744 |
ClinVar |
|
CFAP300
|
Causal
Pathogenic evidence from ClinVar
|
29727692, 29727693 |
ClinVar |
|
DNAAF1
|
Causal
Pathogenic evidence from ClinVar
|
19944400, 19944405 |
ClinVar |
|
DNAAF11
|
Causal
Pathogenic evidence from ClinVar
|
23122589, 23891469, 24307375 |
ClinVar |
|
DNAAF3
|
Causal
Pathogenic evidence from ClinVar
|
22387996 |
ClinVar |
|
DNAAF4
|
Causal
Pathogenic evidence from ClinVar
|
23872636 |
ClinVar |
| CILIARY DYSKINESIA, PRIMARY, 15 |
C3151137 |
CCDC40
|
Causal
Pathogenic evidence from ClinVar
|
21131974, 22499950, 22693285, 23255504 |
ClinVar |
| CILIARY DYSKINESIA, PRIMARY, 27 |
C3809701 |
CCDC65
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| CILIARY DYSKINESIA, PRIMARY, 29 |
C4014534 |
CCNO
|
Causal
Pathogenic evidence from ClinVar
|
24747639, 26777464, 30166424 |
ClinVar |
| CILIARY DYSKINESIA, PRIMARY, 26 |
C3809684 |
CFAP298
|
Causal
Pathogenic evidence from ClinVar
|
24094744 |
ClinVar |
| CILIARY DYSKINESIA, PRIMARY, 38 |
C4748052 |
CFAP300
|
Causal
Pathogenic evidence from ClinVar
|
29727692, 29727693 |
ClinVar |
| PONTOCEREBELLAR HYPOPLASIA, TYPE 12 |
C4748873 |
COASY
|
Causal
Pathogenic evidence from ClinVar
|
30089828 |
ClinVar |
| CILIARY DYSKINESIA, PRIMARY, 13 |
C2750790 |
DNAAF1
|
Causal
Pathogenic evidence from ClinVar
|
18385425, 19944400, 19944405, 25186273 |
ClinVar |
| CILIARY DYSKINESIA, PRIMARY, 19 |
C3543826 |
DNAAF11
|
Causal
Pathogenic evidence from ClinVar
|
23122589, 23527195, 23891469, 25186273, 27637300 |
ClinVar |
| CILIARY DYSKINESIA, PRIMARY, 10 |
C2675867 |
DNAAF2
|
Causal
Pathogenic evidence from ClinVar
|
19052621 |
ClinVar |
| CILIARY DYSKINESIA, PRIMARY, 2 (disorder) |
C1847554 |
DNAAF3
|
Causal
Pathogenic evidence from ClinVar
|
22387996 |
ClinVar |
