| RETINITIS PIGMENTOSA 49 |
C3151059 |
CNGA1
|
Causal
Pathogenic evidence from ClinVar
|
7479749, 15570217, 23462753, 25268133 |
ClinVar |
| Retinitis pigmentosa |
791 |
CNGB1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CRB1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CRX
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
DHDDS
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
DHX38
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
EYS
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
FAM161A
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
HGSNAT
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
IDH3B
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
IFT140
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
IFT172
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
IMPDH1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
IMPG2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
KIAA1549
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
KIZ
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Retinitis Pigmentosa |
C0035334 |
CNGB1
|
Causal
Pathogenic evidence from ClinVar
|
11379879, 21147909, 21987686, 25943428, 25999674, 28056120, 30718709 |
ClinVar |
|
CNGB3
|
Causal
Pathogenic evidence from ClinVar
|
30718709 |
ClinVar |
|
COL18A1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CRB1
|
Causal
Pathogenic evidence from ClinVar
|
10508521, 11389483, 16272259, 21602930, 26497376, 30718709 |
ClinVar |
|
CRX
|
Causal
Pathogenic evidence from ClinVar
|
9427255, 9792858, 11139241 |
ClinVar |
|
CYP4V2
|
Causal
Pathogenic evidence from ClinVar
|
24480711 |
ClinVar |
|
DHDDS
|
Causal
Pathogenic evidence from ClinVar
|
21295282, 21295283, 24078709, 25255364, 26261414, 29276052 |
ClinVar |
|
DHX38
|
Causal
Pathogenic evidence from ClinVar
|
30208423 |
ClinVar |
|
EYS
|
Causal
Pathogenic evidence from ClinVar
|
18836446, 18976725, 20537394, 21069908, 22164218, 22581970, 24265693, 25268133, 25491159, 26667666, 29550188, 30718709 |
ClinVar |
|
FAM161A
|
Causal
Pathogenic evidence from ClinVar
|
20705278, 25097241, 25999674, 26113502, 26574802, 30718709 |
ClinVar |
|
FLVCR1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
GUCY2D
|
Causal
Pathogenic evidence from ClinVar
|
16272259 |
ClinVar |
|
HGSNAT
|
Causal
Pathogenic evidence from ClinVar
|
25859010 |
ClinVar |
|
IDH3B
|
Causal
Pathogenic evidence from ClinVar
|
18806796 |
ClinVar |
|
IFT140
|
Causal
Pathogenic evidence from ClinVar
|
26216056, 26497376 |
ClinVar |
|
IFT172
|
Causal
Pathogenic evidence from ClinVar
|
25168386 |
ClinVar |
|
IMPDH1
|
Causal
Pathogenic evidence from ClinVar
|
11875050, 16384941 |
ClinVar |
|
IMPG2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
IQCB1
|
Causal
Pathogenic evidence from ClinVar
|
30718709 |
ClinVar |
|
KIAA1549
|
Causal
Pathogenic evidence from ClinVar
|
30120214 |
ClinVar |
|
KIZ
|
Causal
Pathogenic evidence from ClinVar
|
24680887 |
ClinVar |
| RETINITIS PIGMENTOSA 45 |
C3151066 |
CNGB1
|
Causal
Pathogenic evidence from ClinVar
|
11379879 |
ClinVar |
| RETINITIS PIGMENTOSA 12 (disorder) |
C1838647 |
CRB1
|
Causal
Pathogenic evidence from ClinVar
|
10508521, 11231775, 11389483, 11559858, 12573663, 12843338, 15024725, 15459956, 16543197, 18055816, 18682808, 19140180, 19401883, 19956407, 20079931, 20591486, 20956273, 21484995, 21987686, 22065545, 22128245, 22334370, 22863181, 23379534, 23449718, 23462753, 23847139, 24265693, 24512366, 24715753, 25133751, 26147992, 27113771, 28512305, 28819299 |
ClinVar |
| RETINITIS PIGMENTOSA 59 |
C3151227 |
DHDDS
|
Causal
Pathogenic evidence from ClinVar
|
21295282, 21295283, 22110072, 24664694, 25066056, 27343064, 28130426, 29100083 |
ClinVar |
| RETINITIS PIGMENTOSA 84 |
C4748725 |
DHX38
|
Causal
Pathogenic evidence from ClinVar
|
24737827, 30208423 |
ClinVar |
| Retinitis Pigmentosa 25 |
C1864446 |
EYS
|
Causal
Pathogenic evidence from ClinVar
|
18836446, 18976725, 20333770, 20375346, 20537394, 20696082, 21069908, 21217109, 24474277, 25097241, 25412400, 25491159, 26161267, 26261414, 26667666, 26787102, 27208204, 28704921 |
ClinVar |
| RETINITIS PIGMENTOSA 28 |
C1419614 |
FAM161A
|
Causal
Pathogenic evidence from ClinVar
|
20705278, 20705279, 23591405, 24651477, 25097241, 25525159, 26574802 |
ClinVar |
| RETINITIS PIGMENTOSA 73 |
C4225287 |
HGSNAT
|
Causal
Pathogenic evidence from ClinVar
|
17033958, 17397050, 18024218, 19479962, 19823584, 20583299, 20825431, 21048366, 23301227, 25859010, 27604308 |
ClinVar |
| RETINITIS PIGMENTOSA 79 |
C4479526 |
HK1
|
Causal
Pathogenic evidence from ClinVar
|
25190649, 25316723, 26427411, 28765615 |
ClinVar |
| Retinitis Pigmentosa 46 |
C2675496 |
IDH3B
|
Causal
Pathogenic evidence from ClinVar
|
18806796 |
ClinVar |
| RETINITIS PIGMENTOSA 80 |
C4540439 |
IFT140
|
Causal
Pathogenic evidence from ClinVar
|
26216056, 26359340, 26968735 |
ClinVar |
| RETINITIS PIGMENTOSA 71 |
C4225342 |
IFT172
|
Causal
Pathogenic evidence from ClinVar
|
24140113, 25168386 |
ClinVar |
| Retinitis Pigmentosa 10 |
C1867299 |
IMPDH1
|
Causal
Pathogenic evidence from ClinVar
|
11875049, 11875050, 16384941 |
ClinVar |
| RETINITIS PIGMENTOSA 56 |
C3150819 |
IMPG2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
