| Cone rod dystrophy |
1872 |
ABCA4
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
ADAM9
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
AIPL1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CACNA1F
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CDHR1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CFAP418
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CNGA3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CRX
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
DRAM2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
GUCY2D
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
NMNAT1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
POC1B
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Cone-Rod Dystrophies |
C4085590 |
ABCA4
|
Causal
Pathogenic evidence from ClinVar
|
30718709 |
ClinVar |
|
ADAM9
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
AIPL1
|
Causal
Pathogenic evidence from ClinVar
|
25148430 |
ClinVar |
|
ALMS1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CABP4
|
Causal
Pathogenic evidence from ClinVar
|
30718709 |
ClinVar |
|
CACNA1F
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CDHR1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CEP290
|
Causal
Pathogenic evidence from ClinVar
|
30718709 |
ClinVar |
|
CEP78
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CERKL
|
Causal
Pathogenic evidence from ClinVar
|
30718709 |
ClinVar |
|
CFAP418
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CNGA1
|
Causal
Pathogenic evidence from ClinVar
|
30718709 |
ClinVar |
|
CNGA3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CNGB3
|
Causal
Pathogenic evidence from ClinVar
|
30718709 |
ClinVar |
|
CRX
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
FAM161A
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
GUCY2D
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
NR2E3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PANK2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
POC1B
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Cone-Rod Dystrophy 2 |
C3489532 |
ABCA4
|
Causal
Pathogenic evidence from ClinVar
|
10958761, 23776498, 26992781 |
ClinVar |
|
ADAM9
|
Causal
Pathogenic evidence from ClinVar
|
19409519 |
ClinVar |
|
AIPL1
|
Causal
Pathogenic evidence from ClinVar
|
10873396 |
ClinVar |
|
CACNA1F
|
Causal
Pathogenic evidence from ClinVar
|
16505158, 26992781 |
ClinVar |
|
CDHR1
|
Causal
Pathogenic evidence from ClinVar
|
20805371 |
ClinVar |
|
CFAP418
|
Causal
Pathogenic evidence from ClinVar
|
22177090 |
ClinVar |
|
CNGA3
|
Causal
Pathogenic evidence from ClinVar
|
25052312 |
ClinVar |
|
CRX
|
Causal
Pathogenic evidence from ClinVar
|
9390563, 9427255, 9792858, 10887186, 26682157, 26992781 |
ClinVar |
|
DRAM2
|
Causal
Pathogenic evidence from ClinVar
|
25983245 |
ClinVar |
|
GUCY2D
|
Causal
Pathogenic evidence from ClinVar
|
20517349, 26992781 |
ClinVar |
|
NMNAT1
|
Causal
Pathogenic evidence from ClinVar
|
28369829 |
ClinVar |
|
POC1B
|
Causal
Pathogenic evidence from ClinVar
|
25018096 |
ClinVar |
| CONE-ROD DYSTROPHY 3 (disorder) |
C1858806 |
ABCA4
|
Causal
Pathogenic evidence from ClinVar
|
9466990, 9503029, 9781034, 9973280, 10413692, 10711710, 10958761, 10958763, 11017087, 11385708, 11527935, 16103129, 18285826, 19074458, 19217903, 20696155, 22264887, 22328824, 22427542, 23591405, 23695285, 23755871, 24265693, 24444108, 24713488, 25082885, 25097241, 26593885, 28181551, 30576320 |
ClinVar |
| CONE-ROD DYSTROPHY 9 |
C1423873 |
ADAM9
|
Causal
Pathogenic evidence from ClinVar
|
25091951 |
ClinVar |
| CONE-ROD DYSTROPHY, X-LINKED, 3 |
C1845407 |
CACNA1F
|
Causal
Pathogenic evidence from ClinVar
|
26350204 |
ClinVar |
| CONE-ROD DYSTROPHY 15 |
C3150912 |
CDHR1
|
Causal
Pathogenic evidence from ClinVar
|
20805371, 26350383 |
ClinVar |
| CONE-ROD DYSTROPHY 16 |
C3281045 |
CFAP418
|
Causal
Pathogenic evidence from ClinVar
|
22177090, 27008867 |
ClinVar |
| CONE-ROD DYSTROPHY 20 |
C4014856 |
POC1B
|
Causal
Pathogenic evidence from ClinVar
|
24945461, 25018096, 25044745, 29377742 |
ClinVar |
