| Leber Congenital Amaurosis |
C0339527 |
ABCA4
|
Causal
Pathogenic evidence from ClinVar
|
9781034, 10090887 |
ClinVar |
|
AHI1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
AIPL1
|
Causal
Pathogenic evidence from ClinVar
|
10615133, 25685757, 30718709 |
ClinVar |
|
CDHR1
|
Causal
Pathogenic evidence from ClinVar
|
30718709 |
ClinVar |
|
CEP290
|
Causal
Pathogenic evidence from ClinVar
|
16682970, 17345604, 25685757, 30718709 |
ClinVar |
|
CLUAP1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CNGB3
|
Causal
Pathogenic evidence from ClinVar
|
10888875, 30718709 |
ClinVar |
|
CRB1
|
Causal
Pathogenic evidence from ClinVar
|
11389483, 25685757, 30718709 |
ClinVar |
|
CRX
|
Causal
Pathogenic evidence from ClinVar
|
9537410, 9931337, 25685757, 26872967 |
ClinVar |
|
GDF6
|
Causal
Pathogenic evidence from ClinVar
|
23307924, 25685757 |
ClinVar |
|
GRM6
|
Causal
Pathogenic evidence from ClinVar
|
30718709 |
ClinVar |
|
GUCY2D
|
Causal
Pathogenic evidence from ClinVar
|
25685757, 30718709 |
ClinVar |
|
IMPDH1
|
Causal
Pathogenic evidence from ClinVar
|
16384941, 25685757 |
ClinVar |
|
IQCB1
|
Causal
Pathogenic evidence from ClinVar
|
15723066, 20881296, 21220633, 21901789 |
ClinVar |
|
KCNJ13
|
Causal
Pathogenic evidence from ClinVar
|
21763485, 25685757 |
ClinVar |
|
LCA5
|
Causal
Pathogenic evidence from ClinVar
|
17546029, 23946133, 25412400, 25685757 |
ClinVar |
|
LRAT
|
Causal
Pathogenic evidence from ClinVar
|
17011878, 19339306, 25685757 |
ClinVar |
|
NMNAT1
|
Causal
Pathogenic evidence from ClinVar
|
22842227, 22842229, 22842230, 22842231, 24830548, 25685757, 26018082 |
ClinVar |
|
NR2E3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PDE6A
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
RD3
|
Causal
Pathogenic evidence from ClinVar
|
17186464, 25685757 |
ClinVar |
| Leber congenital amaurosis |
65 |
AIPL1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CEP290
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CRB1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CRX
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
GDF6
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
GUCY2D
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
IMPDH1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
IQCB1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
KCNJ13
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
LCA5
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
LRAT
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
NMNAT1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
RD3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
RDH12
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Leber Congenital Amaurosis 4 |
C1858386 |
AIPL1
|
Causal
Pathogenic evidence from ClinVar
|
10615133, 10873396, 12374762, 15249368, 15347646, 17724218, 20702822, 21153841, 21474771, 22412862, 23737531, 25148430, 25799540, 27268253, 28973376 |
ClinVar |
| LEBER CONGENITAL AMAUROSIS 10 (disorder) |
C1857821 |
CEP290
|
Causal
Pathogenic evidence from ClinVar
|
16909394, 17345604, 17564974, 18327255, 19764032, 20690115, 30055837 |
ClinVar |
| Amaurosis congenita of Leber, type 1 |
C2931258 |
CRB1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
GUCY2D
|
Causal
Pathogenic evidence from ClinVar
|
8944027, 9888789, 10636733, 10951519, 11035546, 11328726, 12365911, 15123990, 16505055, 17724218, 17964524, 20050595, 20683928, 21602930, 23035049, 25477517, 26253563, 26626312, 27475985, 30319355 |
ClinVar |
|
PROM1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| LEBER CONGENITAL AMAUROSIS 8 |
C3151202 |
CRB1
|
Causal
Pathogenic evidence from ClinVar
|
10508521, 11231775, 11389483, 12567265, 12573663, 12700176, 12843338, 15024725, 15459956, 15691574, 16205573, 16543197, 16936081, 17128490, 17438615, 17724218, 18055816, 18055821, 18682808, 19140180, 19401883, 20079931, 20108431, 20591486, 20956273, 21484995, 21602930, 22065545, 22863181, 23379534, 23449718, 23462753, 23847139, 24265693, 24512366, 24715753, 25133751, 26147992, 27113771, 28512305, 28819299, 30576320 |
ClinVar |
| LEBER CONGENITAL AMAUROSIS 7 |
C3151192 |
CRX
|
Causal
Pathogenic evidence from ClinVar
|
9792858, 9931337, 10887186, 20513135, 21602930 |
ClinVar |
| LEBER CONGENITAL AMAUROSIS 17 |
C3715164 |
GDF6
|
Causal
Pathogenic evidence from ClinVar
|
23307924 |
ClinVar |
| LEBER CONGENITAL AMAUROSIS 11 |
C1840284 |
IMPDH1
|
Causal
Pathogenic evidence from ClinVar
|
16384941 |
ClinVar |
| LEBER CONGENITAL AMAUROSIS 16 |
C3280062 |
KCNJ13
|
Causal
Pathogenic evidence from ClinVar
|
21763485 |
ClinVar |
| LEBER CONGENITAL AMAUROSIS 5 |
C1858301 |
LCA5
|
Causal
Pathogenic evidence from ClinVar
|
17546029, 18000884, 18334959, 19503738, 21606596, 23946133, 25356970, 28418496 |
ClinVar |
| Leber Congenital Amaurosis 14 |
C2750063 |
LRAT
|
Causal
Pathogenic evidence from ClinVar
|
11381255, 17011878, 18055821 |
ClinVar |
| LEBER CONGENITAL AMAUROSIS 9 (disorder) |
C1837873 |
LRAT
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
NMNAT1
|
Causal
Pathogenic evidence from ClinVar
|
12734549, 22842227, 22842229, 22842230, 22842231, 23040504, 24625443, 24830548, 24940029, 26018082, 26103963, 27032803, 28369829 |
ClinVar |
| LEBER CONGENITAL AMAUROSIS 12 (disorder) |
C1857743 |
RD3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
