| Gene symbol |
Gene name |
Total variants |
Unique variants |
Patients |
| ABCA4 |
ATP-binding cassette, sub-family A (ABC1), member 4 |
18 |
13 |
9 |
| ABCB5 |
ATP-binding cassette, sub-family B (MDR/TAP), member 5 |
0 |
0 |
0 |
| ABCC6 |
ATP-binding cassette, sub-family C (CFTR/MRP), member 6 |
348 |
348 |
1 |
| ABHD12 |
abhydrolase domain containing 12 |
38 |
4 |
19 |
| ACBD5 |
acyl-CoA binding domain containing 5 |
2 |
1 |
1 |
| ADAM9 |
ADAM metallopeptidase domain 9 |
0 |
0 |
0 |
| ADAMTS10 |
ADAM metallopeptidase with thrombospondin type 1 motif, 10 |
0 |
0 |
0 |
| ADAMTSL4 |
ADAM metallopeptidase with thrombospondin type 1 motif, like 4 |
0 |
0 |
0 |
| AHI1 |
Abelson helper integration site 1 |
4 |
2 |
2 |
| AIPL1 |
Aryl hydrocarbon receptor interacting protein-like 1 |
425 |
77 |
219 |
| ALMS1 |
Alstrom syndrome 1 |
0 |
0 |
0 |
| ARL6 |
ADP-ribosylation factor-like 6 |
2 |
1 |
1 |
| BBS1 |
Bardet-Biedl syndrome 1 |
2 |
1 |
1 |
| BBS10 |
Bardet-Biedl syndrome 10 |
0 |
0 |
0 |
| BBS12 |
Bardet-Biedl syndrome 12 |
0 |
0 |
0 |
| BBS2 |
Bardet-Biedl syndrome 2 |
0 |
0 |
0 |
| BBS4 |
Bardet-Biedl syndrome 4 |
0 |
0 |
0 |
| BBS5 |
Bardet-Biedl syndrome 5 |
0 |
0 |
0 |
| BBS7 |
Bardet-Biedl syndrome 7 |
0 |
0 |
0 |
| BBS9 |
Bardet-Biedl syndrome 9 |
0 |
0 |
0 |
| BEST1 |
Bestrophin 1 |
2 |
2 |
2 |
| BFSP1 |
Beaded filament structural protein 1 |
0 |
0 |
0 |
| BFSP2 |
Beaded filament structural protein 2 |
0 |
0 |
0 |
| C1QTNF5 |
C1q and tumor necrosis factor related protein 5 |
0 |
0 |
0 |
| C21orf2 |
chromosome 21 open reading frame 2 |
2 |
1 |
1 |
| C2orf71 |
Chromosome 2 open reading frame 71 |
65 |
10 |
40 |
| C8orf37 |
Chromosome 8 open reading frame 37 |
0 |
0 |
0 |
| CA4 |
Carbonic anhydrase IV |
5 |
2 |
5 |
| CABP4 |
calcium binding protein 4 |
0 |
0 |
0 |
| CACNA1F |
Calcium channel, voltage-dependent, L type, alpha 1F subunit |
128 |
12 |
127 |
| CACNA2D4 |
calcium channel, voltage-dependent, alpha 2/delta subunit 4 |
2 |
2 |
1 |
| CAPN5 |
calpain 5 |
0 |
0 |
0 |
| CC2D2A |
Coiled-coil and C2 domain containing 2A |
4 |
2 |
2 |
| CDH3 |
cadherin 3, type 1, P-cadherin (placental) |
0 |
0 |
0 |
| CDHR1 |
Cadherin-related family member 1 |
2 |
1 |
1 |
| CEP164 |
centrosomal protein 164kDa |
0 |
0 |
0 |
| CEP290 |
Centrosomal protein 290kDa |
464 |
139 |
401 |
| CERKL |
ceramide kinase-like |
2 |
1 |
1 |
| CFH |
Complement factor H |
2 |
2 |
1 |
| CHMP4B |
Chromatin modifying protein 4B |
0 |
0 |
0 |
| CNGA1 |
cyclic nucleotide gated channel alpha 1 |
0 |
0 |
0 |
| CNGA3 |
cyclic nucleotide gated channel alpha 3 |
0 |
0 |
0 |
| CNGB1 |
cyclic nucleotide gated channel beta 1 |
0 |
0 |
0 |
| CNGB3 |
cyclic nucleotide gated channel beta 3 |
0 |
0 |
0 |
| CNNM4 |
cyclin M4 |
2 |
1 |
1 |
| COL9A1 |
collagen, type IX, alpha 1 |
0 |
0 |
0 |
| CRB1 |
Crumbs homolog 1 (Drosophila) |
88 |
37 |
51 |
| CRX |
cone-rod homeobox |
2 |
2 |
2 |
| CRYAA |
Crystallin, alpha-A |
572 |
22 |
424 |
| CRYAB |
Crystallin, alpha-B |
0 |
0 |
0 |
| CRYBA1 |
Crystallin, beta-A1 |
194 |
10 |
152 |
| CRYBA2 |
crystallin, beta A2 |
3 |
3 |
1 |
| CRYBA4 |
Crystallin, beta-A4 |
99 |
11 |
96 |
| CRYBB1 |
Crystallin, beta-B1 |
98 |
7 |
68 |
| CRYBB2 |
Crystallin, beta-B2 |
313 |
25 |
185 |
| CRYBB2P1 |
Crystallin, beta B2 pseudogene 1 |
1 |
1 |
1 |
| CRYBB3 |
Crystallin, beta-B3 |
22 |
5 |
11 |
| CRYGA |
Crystallin, gamma A |
21 |
4 |
17 |
| CRYGB |
Crystallin, gamma B |
52 |
6 |
19 |
| CRYGC |
Crystallin, gamma-C |
100 |
9 |
99 |
| CRYGD |
Crystallin, gamma-D |
295 |
21 |
263 |
| CRYGEP |
Crystallin, gamma E, pseudogene |
0 |
0 |
0 |
| CRYGS |
Crystallin, gamma-S |
25 |
3 |
25 |
| CRYM |
Crystallin, mu |
280 |
6 |
277 |
| CYP4V2 |
cytochrome P450, family 4, subfamily V, polypeptide 2 |
0 |
0 |
0 |
| DFNB31 |
deafness, autosomal recessive 31 |
0 |
0 |
0 |
| DHDDS |
dehydrodolichyl diphosphate synthase |
0 |
0 |
0 |
| DTHD1 |
Death domain containing 1 |
2 |
1 |
1 |
| EFEMP1 |
EGF containing fibulin-like extracellular matrix protein 1 |
0 |
0 |
0 |
| ELOVL4 |
ELOVL fatty acid elongase 4 |
6 |
1 |
3 |
| EMC1 |
ER membrane protein complex subunit 1 |
2 |
1 |
1 |
| EYS |
Eyes shut homolog (Drosophila) |
9 |
6 |
5 |
| FAM161A |
family with sequence similarity 161, member A |
23 |
15 |
19 |
| FLVCR1 |
feline leukemia virus subgroup C cellular receptor 1 |
0 |
0 |
0 |
| FSCN2 |
fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) |
0 |
0 |
0 |
| FZD4 |
frizzled family receptor 4 |
0 |
0 |
0 |
| GCNT2 |
glucosaminyl (N-acetyl) transferase 2 |
0 |
0 |
0 |
| GJA3 |
Gap junction protein, alpha 3 |
1 |
1 |
1 |
| GJA8 |
Gap junction protein, alpha 8 |
9 |
9 |
9 |
| GLIS2 |
GLIS family zinc finger 2 |
0 |
0 |
0 |
| GNAT1 |
guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1 |
0 |
0 |
0 |
| GNAT2 |
guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 |
0 |
0 |
0 |
| GNPTG |
N-acetylglucosamine-1-phosphate transferase, gamma subunit |
0 |
0 |
0 |
| GPR125 |
G protein-coupled receptor 125 |
2 |
1 |
1 |
| GPR143 |
G protein-coupled receptor 143 |
0 |
0 |
0 |
| GPR179 |
G protein-coupled receptor 179 |
4 |
4 |
4 |
| GRK1 |
G protein-coupled receptor kinase 1 |
0 |
0 |
0 |
| GRM6 |
glutamate receptor, metabotropic 6 |
0 |
0 |
0 |
| GUCA1A |
Guanylate cyclase activator 1A (retina) |
2 |
2 |
2 |
| GUCA1B |
Guanylate cyclase activator 1B (retina) |
9 |
3 |
8 |
| GUCY2D |
Guanylate cyclase 2D, membrane (retina-specific) |
18 |
7 |
16 |
| HARS |
histidyl-tRNA synthetase |
0 |
0 |
0 |
| HMCN1 |
hemicentin 1 |
0 |
0 |
0 |
| HPS1 |
Hermansky-Pudlak syndrome 1 |
0 |
0 |
0 |
| HSF4 |
Heat shock transcription factor 4 |
5 |
5 |
5 |
| IDH3B |
isocitrate dehydrogenase 3 (NAD+) beta |
0 |
0 |
0 |
| IMPDH1 |
IMP (inosine 5'-monophosphate) dehydrogenase 1 |
1 |
1 |
1 |
| IMPG2 |
Interphotoreceptor matrix proteoglycan 2 |
2 |
2 |
1 |
| INPP5E |
inositol polyphosphate-5-phosphatase, 72 kDa |
0 |
0 |
0 |
| INVS |
Inversin |
2 |
2 |
1 |
| IQCB1 |
IQ motif containing B1 |
0 |
0 |
0 |
| KCNJ13 |
potassium inwardly-rectifying channel, subfamily J, member 13 |
0 |
0 |
0 |
| KCNV2 |
potassium channel, subfamily V, member 2 |
0 |
0 |
0 |
| KIAA1549 |
KIAA1549 |
2 |
1 |
1 |
| KLHL7 |
kelch-like 7 (Drosophila) |
0 |
0 |
0 |
| LCA5 |
Leber congenital amaurosis 5 |
492 |
32 |
251 |
| LIM2 |
Lens intrinsic membrane protein 2 |
0 |
0 |
0 |
| LRAT |
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) |
0 |
0 |
0 |
| LRIT3 |
leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 |
0 |
0 |
0 |
| LRP5 |
low density lipoprotein receptor-related protein 5 |
0 |
0 |
0 |
| LZTFL1 |
leucine zipper transcription factor-like 1 |
0 |
0 |
0 |
| MAF |
Musculoaponeurotic fibrosarcoma oncogene homolog (avian) |
0 |
0 |
0 |
| MAK |
male germ cell-associated kinase |
0 |
0 |
0 |
| MC1R |
melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) |
0 |
0 |
0 |
| MERTK |
c-mer proto-oncogene tyrosine kinase |
0 |
0 |
0 |
| MFRP |
membrane frizzled-related protein |
0 |
0 |
0 |
| MKKS |
McKusick-Kaufman syndrome |
0 |
0 |
0 |
| MYOC |
Myocilin |
119 |
8 |
114 |
| NDP |
Norrie disease (pseudoglioma) |
0 |
0 |
0 |
| NEK8 |
NIMA (never in mitosis gene a)- related kinase 8 |
0 |
0 |
0 |
| NPHP1 |
nephronophthisis 1 (juvenile) |
0 |
0 |
0 |
| NPHP3 |
Nephronophthisis 3 (adolescent) |
2 |
2 |
1 |
| NPHP4 |
Nephronophthisis 4 |
2 |
2 |
1 |
| NR2E3 |
nuclear receptor subfamily 2, group E, member 3 |
468 |
76 |
333 |
| NRL |
Neural retina leucine zipper |
2 |
2 |
1 |
| NYX |
Nyctalopin |
1 |
1 |
1 |
| OAT |
Ornithine aminotransferase |
158 |
67 |
88 |
| OCA2 |
oculocutaneous albinism II |
0 |
0 |
0 |
| OPA1 |
optic atrophy 1 (autosomal dominant) |
0 |
0 |
0 |
| OPA3 |
optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) |
0 |
0 |
0 |
| OPN1LW |
opsin 1 (cone pigments), long-wave-sensitive |
0 |
0 |
0 |
| OPN1MW |
opsin 1 (cone pigments), medium-wave-sensitive |
0 |
0 |
0 |
| OPN1SW |
opsin 1 (cone pigments), short-wave-sensitive |
0 |
0 |
0 |
| OTX2 |
orthodenticle homeobox 2 |
0 |
0 |
0 |
| PANK2 |
pantothenate kinase 2 |
0 |
0 |
0 |
| PDC |
phosducin |
0 |
0 |
0 |
| PDE6A |
phosphodiesterase 6A, cGMP-specific, rod, alpha |
0 |
0 |
0 |
| PDE6B |
Phosphodiesterase 6B, cGMP-specific, rod, beta |
26 |
15 |
16 |
| PDE6C |
phosphodiesterase 6C, cGMP-specific, cone, alpha prime |
0 |
0 |
0 |
| PDE6G |
phosphodiesterase 6G, cGMP-specific, rod, gamma |
0 |
0 |
0 |
| PDE6H |
phosphodiesterase 6H, cGMP-specific, cone, gamma |
0 |
0 |
0 |
| PEX1 |
peroxisomal biogenesis factor 1 |
0 |
0 |
0 |
| PEX2 |
peroxisomal biogenesis factor 2 |
0 |
0 |
0 |
| PEX7 |
peroxisomal biogenesis factor 7 |
0 |
0 |
0 |
| PHYH |
phytanoyl-CoA 2-hydroxylase |
0 |
0 |
0 |
| PITPNM3 |
PITPNM family member 3 |
0 |
0 |
0 |
| PITX3 |
Paired-like homeodomain 3 |
0 |
0 |
0 |
| PLA2G5 |
phospholipase A2, group V |
0 |
0 |
0 |
| PRCD |
progressive rod-cone degeneration |
0 |
0 |
0 |
| PRKCG |
protein kinase C, gamma |
0 |
0 |
0 |
| PROM1 |
Prominin 1 |
76 |
6 |
63 |
| PRPF3 |
PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae) |
0 |
0 |
0 |
| PRPF31 |
PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae) |
2 |
2 |
2 |
| PRPF6 |
PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) |
0 |
0 |
0 |
| PRPF8 |
PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) |
0 |
0 |
0 |
| PRPH2 |
Peripherin 2 (retinal degeneration, slow) |
4 |
3 |
3 |
| RAX2 |
retina and anterior neural fold homeobox 2 |
0 |
0 |
0 |
| RBP3 |
retinol binding protein 3, interstitial |
2 |
1 |
1 |
| RBP4 |
retinol binding protein 4, plasma |
0 |
0 |
0 |
| RD3 |
retinal degeneration 3 |
0 |
0 |
0 |
| RDH12 |
Retinol dehydrogenase 12 (all-trans/9-cis/11-cis) |
4 |
2 |
2 |
| RDH5 |
retinol dehydrogenase 5 (11-cis/9-cis) |
218 |
41 |
110 |
| RGR |
Retinal G protein coupled receptor |
2 |
1 |
2 |
| RGS9 |
regulator of G-protein signaling 9 |
0 |
0 |
0 |
| RGS9BP |
regulator of G protein signaling 9 binding protein |
0 |
0 |
0 |
| RHO |
Rhodopsin |
3 |
3 |
3 |
| RIMS1 |
Regulating synaptic membrane exocytosis 1 |
2 |
2 |
2 |
| RLBP1 |
Retinaldehyde binding protein 1 |
2 |
1 |
1 |
| ROM1 |
retinal outer segment membrane protein 1 |
0 |
0 |
0 |
| RP1 |
Retinitis pigmentosa 1 (autosomal dominant) |
914 |
95 |
747 |
| RP1L1 |
retinitis pigmentosa 1-like 1 |
0 |
0 |
0 |
| RP2 |
Retinitis pigmentosa 2 (X-linked recessive) |
13 |
3 |
13 |
| RP9 |
Retinitis pigmentosa 9 (autosomal dominant) |
1 |
1 |
1 |
| RPE65 |
Retinal pigment epithelium-specific protein 65kDa |
8 |
6 |
4 |
| RPGR |
Retinitis pigmentosa GTPase regulator |
61 |
10 |
59 |
| RPGRIP1 |
retinitis pigmentosa GTPase regulator interacting protein 1 |
23 |
7 |
12 |
| RPGRIP1L |
RPGRIP1-like |
4 |
3 |
2 |
| RS1 |
Retinoschisis 1 (X-linked, juveline) |
995 |
196 |
977 |
| SAG |
S-antigen; retina and pineal gland (arrestin) |
0 |
0 |
0 |
| SDCCAG8 |
serologically defined colon cancer antigen 8 |
0 |
0 |
0 |
| SEMA4A |
Sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A |
70 |
9 |
65 |
| SLC24A1 |
solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 |
0 |
0 |
0 |
| SLC45A2 |
solute carrier family 45, member 2 |
0 |
0 |
0 |
| SNRNP200 |
Small nuclear ribonucleoprotein 200kDa (U5) |
9 |
7 |
8 |
| SPATA7 |
Spermatogenesis associated 7 |
2 |
2 |
1 |
| TEAD1 |
TEA domain family member 1 (SV40 transcriptional enhancer factor) |
0 |
0 |
0 |
| TIMM8A |
translocase of inner mitochondrial membrane 8 homolog A (yeast) |
0 |
0 |
0 |
| TIMP3 |
TIMP metallopeptidase inhibitor 3 |
0 |
0 |
0 |
| TMEM114 |
Transmembrane protein 114 |
0 |
0 |
0 |
| TMEM126A |
Transmembrane protein 126A |
0 |
0 |
0 |
| TMEM237 |
transmembrane protein 237 |
0 |
0 |
0 |
| TOPORS |
topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase |
9 |
2 |
9 |
| TRPM1 |
Transient receptor potential cation channel, subfamily M, member 1 |
2 |
2 |
1 |
| TSPAN12 |
tetraspanin 12 |
0 |
0 |
0 |
| TTC8 |
tetratricopeptide repeat domain 8 |
95 |
28 |
68 |
| TTPA |
tocopherol (alpha) transfer protein |
0 |
0 |
0 |
| TULP1 |
tubby like protein 1 |
263 |
43 |
133 |
| TYR |
tyrosinase (oculocutaneous albinism IA) |
0 |
0 |
0 |
| UNC119 |
unc-119 homolog (C. elegans) |
0 |
0 |
0 |
| VCAN |
versican |
0 |
0 |
0 |
| VIM |
Vimentin |
2 |
1 |
2 |
| VSX1 |
Visual system homeobox 1 |
0 |
0 |
0 |
| WDPCP |
WD repeat containing planar cell polarity effector |
0 |
0 |
0 |
| WDR19 |
WD repeat domain 19 |
0 |
0 |
0 |
| WFS1 |
Wolfram syndrome 1 (wolframin) |
0 |
0 |
0 |
| ZNF408 |
zinc finger protein 408 |
0 |
0 |
0 |
| ZNF423 |
zinc finger protein 423 |
0 |
0 |
0 |
| ZNF513 |
zinc finger protein 513 |
0 |
0 |
0 |
| |
Total of 208 gene entries |
7839 |
1538 |
5554 |
