| Retinal Dystrophies |
C0854723 |
ABCA4
|
Causal
Pathogenic evidence from ClinVar
|
9054934, 9295268, 9781034, 9973280, 10090887, 10958763, 11328725, 11379881, 11594993, 15614537, 21911583, 22229821, 23918662, 23982839, 25066811, 25312043, 26872967, 30718709 |
ClinVar |
|
ABHD12
|
Causal
Pathogenic evidence from ClinVar
|
22938382 |
ClinVar |
|
ADGRV1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
AHI1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
ALMS1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
ARL2BP
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
BBS1
|
Causal
Pathogenic evidence from ClinVar
|
12118255, 26872967 |
ClinVar |
|
BBS10
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
BBS12
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
BBS2
|
Causal
Pathogenic evidence from ClinVar
|
30718709 |
ClinVar |
|
BBS7
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
BEST1
|
Causal
Pathogenic evidence from ClinVar
|
23290749 |
ClinVar |
|
C1QTNF5
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CABP4
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CACNA1F
|
Causal
Pathogenic evidence from ClinVar
|
25307992 |
ClinVar |
|
CC2D2A
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CDH23
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CDHR1
|
Causal
Pathogenic evidence from ClinVar
|
20087419, 30718709 |
ClinVar |
|
CEP164
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CEP290
|
Causal
Pathogenic evidence from ClinVar
|
17564967 |
ClinVar |
|
CERKL
|
Causal
Pathogenic evidence from ClinVar
|
14681825, 18978954 |
ClinVar |
|
CFAP410
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CHM
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CLRN1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CNGA1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CNGA3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CNGB1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CNGB3
|
Causal
Pathogenic evidence from ClinVar
|
10888875 |
ClinVar |
|
COL18A1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CRB1
|
Causal
Pathogenic evidence from ClinVar
|
10508521, 18055820, 20591486, 30718709 |
ClinVar |
|
CRX
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
DRAM2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
EFEMP1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
EYS
|
Causal
Pathogenic evidence from ClinVar
|
26872967 |
ClinVar |
|
FAM161A
|
Causal
Pathogenic evidence from ClinVar
|
30718709 |
ClinVar |
|
GUCY2D
|
Causal
Pathogenic evidence from ClinVar
|
11565546 |
ClinVar |
|
HGSNAT
|
Causal
Pathogenic evidence from ClinVar
|
17033958, 19479962 |
ClinVar |
|
IMPG2
|
Causal
Pathogenic evidence from ClinVar
|
20673862 |
ClinVar |
|
INPP5E
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
IQCB1
|
Causal
Pathogenic evidence from ClinVar
|
15723066 |
ClinVar |
|
KCNV2
|
Causal
Pathogenic evidence from ClinVar
|
21882291 |
ClinVar |
|
KIAA0586
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
KIF11
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
LCA5
|
Causal
Pathogenic evidence from ClinVar
|
23946133, 25412400 |
ClinVar |
|
LRAT
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Retinal Dystrophy, Early Onset Severe |
C1858080 |
ABCA4
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
LCA5
|
Causal
Pathogenic evidence from ClinVar
|
23946133 |
ClinVar |
|
LRAT
|
Causal
Pathogenic evidence from ClinVar
|
22570351 |
ClinVar |
| Severe early-childhood-onset retinal dystrophy |
364055 |
LCA5
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Retinal Dystrophy, Early-Onset Severe, Lrat-Related |
C2750064 |
LRAT
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
