Fa | Np | Gene | Transcript RefSeq | Ex | NA Changes | AA changes | Hzyo | Pf | Reported | Gm | Disease | SPM | ACMG grade |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
14 | 2 | RHO | NM_000539 | 1 | c.251 T > C | p.L84P | Het | – | Novel | AD | RP, 4 |  +  +  +  | PS4 + PM1 + PM2 + PP1 + PP3 |
15 | 4 | RHO | NM_000539 | 2 | c.403C > T | p.R135W | Het | 0/ 1.082e−5 | Yes[36] | AD | RP, 4 |  +  +  +  | PS1 + PM1 + PP1 + PP3 |
48 | 1 | RHO | NM_000539 | 3 | c.541G > A | p.E181K | Het | – | Yes[37] | AD | RP, 4 |  +  +  +  | PS2 + PM2 + PP3 |
54 | 2 | RHO | NM_000539 | 2 | c.403C > T | p.R135W | Het | 0/ 1.082e−5 | Yes[38] | AD | RP, 4 |  +  +  +  | PS1 + PM1 + PP1 + PP3 |
18 | 3 | NDP | NM_000266 | 2 | c.124C > A | p.H42N | Hemi | – | Novel | XL | FEVR2[39] |  +  +  +  | PM2 + PM5 + PP1 + PP3 |
32 | 1 | NDP | NM_000266 | 3 | c.343C > T | p.R115X | Hemi | – | Yes[40] | XLR | Norrie |  +  +  +  | PVS1 + PS1 + PM2 + PP3 |
46 | 1 | NDP | NM_000266 | 3 | c.401_402delGA | p.*134Wfs*13 | Hemi | – | Novel | XL | FEVR2 | / / / | PVS1 + PS2 + PM2 |
55 | 3 | NDP | NM_000266 | 3 | c.268C > T | p.R90C | Hemi | – | Yes[41] | XLR | Norrie |  +  +  +  | PS1 + PM2 + PP1 + PP3 |
7 | 1 | USH2A | NM_206933 | 2 | c.99_100insT | p.R34Sfs*41 | Hom | 6.242 e−5/ 3.231e−5 | Yes[42] | AR | Usher 2A | / / / | PVS1 + PS1 + PM2 |
9 | 1 | USH2A | NM_206933 | 55 | c.10859 T > C | p.I3620T | Het | 1.16e−4/ 1.219e−5 | Yes[43] | AR | Usher 2A/RP, 39 |  +  +  +  | PS1 + PM2 + PM3 + PP3 |
USH2A | NM_206933 | 13 | c.2802 T > G | p.C934W | Het | 2.441e−3/1.915e−4 | Yes[44] | AR | Usher 2A/RP, 39 |  +  +  +  | PS1 + PM2 + PM3 + PP3 | ||
47 | 1 | USH2A | NM_206933 | 63 | c.13596dupC | p.S4533Lfs*28 | Het | – | Novel | AR | Usher 2A | / / / | PVS1 + PM2 + PM3 |
USH2A | NM_206933 | 56 | c.10962C > A | p.Y3654X | Het | – | Novel | AR | Usher 2A |  +  +  +  | PVS1 + PM2 + PM3 + PP3 | ||
27 | 1 | RS1 | NM_000330 | 6 | c.598C > T | p.R200C | Hemi | – | Yes[45] | XLR | Retinoschisis |  +  +  +  | PS1 + PM2 + PP3 |
38 | 1 | RS1 | NM_000330 | 4 | c.214G > A | p.E72K | Hemi | 0/ 1.678e−5 | Yes[45] | XLR | Retinoschisis |  +  +  +  | PS1 + PM2 + PP3 |
51 | 2 | RS1 | NM_000330 | 4 | c.206_207delTG | p.Leu69Argfs*16 | Hemi | – | Yes[46] | XLR | Retinoschisis | / / / | PVS1 + PS1 + PM2 + PP1 |
1 | 1 | MERTK | NM_006343 | 8 | c.1186G > T | p.E396X | Het | – | Yes[47] | AR | RP,38 | / / +  | PVS1 + PS1 + PM2 |
MERTK | NM_006343 | 3 | c.518A > G | p.Y173C | Het | 0/ 1.219e−5 | Novel | AR | RP,38 |  +  +  +  | PM2 + PM3 + PP3 + PP4 | ||
2 | 2 | MERTK | NM_006343 | 4 | c.754delC | p.P252Qfs*3 | Hom | – | Novel | AR | RP,38 | / / / | PVS1 + PM2 + PP1 |
Fa | Np | Gene | Transcript ErfSeq | Ex | NA Changes | AA changes | Hzyo | Pf | Reported | Gm | Disease | SPM | ACMG grade |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
3 | 1 | CYP4V2 | NM_207352 | 7 | c.(802–8)_810delTCATACAGGTCATCGCTinsGC | ?p.268_270del/ Splicing | Hom | 7.963e−4/ 6.856e−5 | Yes[48] | AR | Bietti CCD | / / / | PVS1 + PS1 + PM2 |
4 | 2 | CYP4V2 | NM_207352 | 7 | c.(802–8)_810delTCATACAGGTCATCGCTinsGC | ?p.268_270del/ Splicing | Het | 7.963e−4/ 6.856e−5 | Yes[48] | AR | Bietti CCD | / / / | PVS1 + PS1 + PM2 + PM3 + PP1 |
CYP4V2 | NM_207352 | 7 | c.958C > T | p.R320X | Het | 0/ 4.061e−6 | Yes[49] | AR | Bietti CCD | / / +  | PVS1 + PS1 + PM2 + PM3 + PP1 | ||
5 | 4 | FSCN2 | NM_001077182 | 1 | c.72delG | p.T25Qfs*120 | Het | 0.01238/ 8.801e−4 | Yes | AD | RP, 30 | / / / | PVS1 + PS1 + PP1 |
6 | 2 | FSCN2 | NM_001077182 | 1 | c.72delG | p.T25Qfs*120 | Het | 0.01238/ 8.801e−4 | Yes[50] | AD | RP, 30 | / / / | PVS1 + PS1 + PP1 |
12 | 4 | PRPF31 | NM_015629 | 11 | c.(1074–8)_1079delGTCCCCAGGTACCG | ?p.358_360delRYRinsS/ Splicing | Het | – | Novel | AD | RP, 11 | / / / | PVS1 + PM2 + PP1 |
50 | 2 | PRPF31 | NM_015629 | 12 | c.1215delG | p.Val406fs*7 | Het | – | Yes[51] | AD | RP, 11 | / / / | PVS1 + PS1 + PM2 + PP1 |
33 | 1 | RPGR | NM_001034853 | 15 | c.2236_2237delGA | p.E746Rfs*23 | Hemi | – | Yes | XLR | MD | / / / | PVS1 + PS1 + PM2 |
52 | 2 | RPGR | NM_001034853 | 15 | c.2236_2237delGA | p.E746Rfs*23 | Hemi | – | Yes[52] | XLR | MD | / / / | PVS1 + PS1 + PM2 + PP1 |
43 | 5 | RP2 | NM_006915 | 3 | c.769–2A > G | splicing | Hemi | – | Yes[53] | XL | RP, 2 | / / +  | PVS1 + PS1 + PM2 + PP1 |
44 | 4 | RP2 | NM_006915 | 2 | c.572_582dup11 | p.Pro190Profs*52 | Hemi | – | Novel | XL | RP, 2 | / / / | PVS1 + PM2 + PP1 |
36 | 1 | ABCA4 | NM_000350 | 29 | c.4352 + 1G > A | splicing | Het | 0/ 8.123e−6 | Yes[54] | AR | Stargardt 1 | / / +  | PVS1 + PS1 + PM2 + PM3 |
ABCA4 | NM_000350 | 13 | c.1804C > T | p.R602W | Het | 2.904e−4/ 4.477e−5 | Yes[55] | AR | Stargardt 1 |  +  +  +  | PS1 + PM2 + PM3 + PP3 | ||
11 | 1 | TULP1 | NM_003322 | 13 | c.1318C > T | p.R440X | Het | 0/ 1.145e−5 | Yes[56] | AR | LCA 15 | / / +  | PVS1 + PS1 + PM2 |
TULP1 | NM_003322 | 12 | c.1142 T > G | p.V381G | Het | – | Novel | AR | LCA 15 |  +  +  +  | PM2 + PM3 + PP3 + PP4 | ||
16 | 1 | CHM | NM_000390 | 5 | c.544delT | p.C182Vfs*14 | Hemi | – | Novel | XLD | choroideremia | / / / | PVS1 + PM2 |
28 | 1 | RPGRIP1 | NM_020366 | 16 | c.2662C > T | p.R888X | Hom | 0/ 1.68e−5 | Yes[57] | AR | LCA6 |  +  +  +  | PVS1 + PS1 + PM2 + PP3 |
Fa | Np | Gene | Transcript RefSeq | Ex | NA Changes | AA changes | Hzyo | Pf | Reported | Gm | Disease | SPM | ACMG grade |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
17 | 2 | PRPF8 | NM_006445 | 36 | c.5792C > T | p.T1931M | Het | – | Novel | AD | RP, 13 |  +  +  +  | PM2 + PP1 + PP2 + PP3 + PP4 |
20 | 1 | TRPM1 | NM_0012 52,020 | 21 | c.2789 T > A | p.I930N | Het | – | Novel | AR | CSNB1C |  +  +  +  | PM2 + PM3 + PP2 + PP3 |
TRPM1 | NM_0012 52,020 | 22 | c.3178 + 1G > A | splicing | Het | 6.889e−4/ 5.772e−5 | Yes[58] | AR | CSNB1C | / / +  | PVS1 + PS1 + PM2 | ||
21 | 1 | NR2E3 | NM_014249 | 6 | c.925C > T | p.R309W | Hom | 0/ 8.34e−6 | Novel | AR | GF | / + / | PM2 + PM5 + PP2 + PP4 |
22 | 1 | PAX2 | NM_003990 | 2 | c.70dupG | p.V26Gfs*28 | Het | 0/ 1.237e−5 | Yes[59] | AD | RCS | / / / | PVS1 + PS1 |
34 | 2 | KCNV2 | NM_133497 | 1 | c.506_513delTGCTGCT | p.V169Gfs*40 | Het | – | Novel | AR | RCD3B | / / / | PVS1 + PM2 + PM3 + PP1 |
KCNV2 | NM_133497 | 1 | c.137G > A | p.W46X | Het | – | Yes[60] | AR | RCD3B |  +  +  +  | PVS1 + PS1 + PM2 + PP1 + PP3 | ||
35 | 2 | FZD4 | NM_206933 | 2 | c.612 T > A | p.C204X | Het | – | Novel | AD | FEVR1 |  +  +  +  | PVS1 + PM2 + PP1 + PP3 |
37 | 2 | LRP5 | NM_002335 | 2 | c.485_488delACGG | p.H162Rfs*38 | Het | – | Novel | AD | FEVR4 | / / / | PVS1 + PM2 + PP1 |
39 | 1 | SLC38A8 | NM_001080442 | 7 | c.927_928delCT | p.Y310Pfs*57 | Het | – | Novel | AR | FH2 | / / / | PVS1 + PM2 + PM3 |
SLC38A8 | NM_001080442 | 6 | c.697G > A | p.E233K | Het | 2.778e−4/ 6.886e−5 | Yes[61] | AR | FH2 |  +  +  +  | PS1 + PM2 + PP3 | ||
40 | 1 | AIPL1 | NM_001285399 | 3 | c.385C > T | p.Q129X | Hom | – | Novel | AR | LCA4 |  +  +  +  | PVS1 + PM2 + PP3 |
41 | 1 | FRMD7 | NM_194277 | 10 | c.910C > T | p.R304X | Hemi | 0/ 5.608e−6 | Yes[62] | XLR | Nystagmus 1 |  +  +  +  | PVS1 + PS1 + PM2 + PP3 |
42 | 1 | GUCY2D | NM_000180 | 18 | c.3177_3178delAC | p.R1060Rfs*11 | Hom | 0/ 4.935e−6 | Novel | AR | LCA4 | / / / | PVS1 + PM2 |
45 | 1 | CNGA1 | NM_001142564 | 5 | c.472delC | p.L158Ffs*4 | Het | 0.0012/ 6.455e−5 | Novel[63] | AR | RP, 49 | / / / | PVS1 + PM2 |
CNGA1 | NM_001142564 | 5 | c.453C > A | p.Y151X | Het | 5.798e−5/ 4.068e−6 | Novel | AR | RP, 49 |  +  +  +  | PVS1 + PM2 + PP3 | ||
49 | 3 | TSPAN12 | NM_012338 | 8 | c.731delT | p.L244Rfs*17 | Het | 0/ 4.064e−6 | Novel | AD | EV5 | / / / | PVS1 + PM2 + PP1 |