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Top 5 genes

Top 5 diseases

Data summary

Publications : 991
Phenotypes : 178
Genes : 207
Mutations : 4583
SNVs : 3411
InDels : 1172
Last Update : 05/11/2017

Browse all variants in RetinoGenetics

View by chromosome : All( 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 X Y All )

View by region : All ( exonic intronic 5-UTR 3-UTR splicing intergenic upstream downstream All )

View by mutation type : All ( SNV deletion insertion All )

View by effect : All ( nonsynonymous synonymous frameshift stoploss stopgain unknown All )

View by gene system : All ( Reference Known Encode Ensembl CCDS All )

Totally 4585 records. Download xls file

Gene symbol	Disease	Gene region	Transcript ID	Exon number	Mutation type	Effect	RetinoGenetics ID
COL2A1	Stickler syndrome	exonic	NM_001844	exon8	SNV	stopgain	RetinalMD_04271
COL2A1	Stickler syndrome	exonic	NM_001844	exon8	SNV	frameshift deletion	RetinalMD_04272
COL2A1	Stickler syndrome	exonic	NM_001844	exon26	SNV	stopgain	RetinalMD_04273
COL2A1	Stickler syndrome	exonic	NM_001844	exon26	SNV	nonsynonymous SNV	RetinalMD_04274
COL2A1	Stickler syndrome	exonic	NM_001844	exon27	deletion	frameshift deletion	RetinalMD_04275
COL2A1	Stickler syndrome	exonic	NM_001844	exon35	SNV	nonsynonymous SNV	RetinalMD_04276
COL2A1	Stickler syndrome	exonic	NM_001844	exon38	deletion	frameshift deletion	RetinalMD_04277
COL2A1	Stickler syndrome	exonic	NM_001844	exon50	SNV	stopgain	RetinalMD_04278
COL2A1	Stickler syndrome	exonic	NM_001844	exon50	SNV	nonsynonymous SNV	RetinalMD_04279
DRAM2	retinal dystrophy with early macular involvement	exonic	NM_178454.4	exon4	deletion	frameshift deletion	RetinalMD_04280
DRAM2	retinal dystrophy with early macular involvement	exonic	NM_178454.4	exon6	SNV	stopgain	RetinalMD_04281
DRAM2	retinal dystrophy with early macular involvement	exonic	NM_178454.4	exon3	SNV	nonsynonymous SNV	RetinalMD_04282
DRAM2	retinal dystrophy with early macular involvement	exonic	NM_178454.4	exon3	deletion	nonframeshift deletion	RetinalMD_04283
DRAM2	retinal dystrophy with early macular involvement	exonic	NM_178454.4	exon6	SNV	nonsynonymous SNV	RetinalMD_04284
DRAM2	retinal dystrophy with early macular involvement	exonic	NM_178454.4	exon3	SNV	nonsynonymous SNV	RetinalMD_04285
DRAM2	retinal dystrophy with early macular involvement	-	NM_178454.4	exon5	deletion	-	RetinalMD_04286
NEK2	retinitis pigmentosa??AR	exonic	NM_001204183	exon4	SNV	frameshift deletion	RetinalMD_04287
OR2W3	retinitis pigmentosa??AD	exonic	NM_001001957	exon1	SNV	nonsynonymous SNV	RetinalMD_04288
ATF6	Photoreceptor Degeneration With Macular Involvement	exonic	NM_007348	exon9	SNV	stopgain	RetinalMD_04289
ATF6	Photoreceptor Degeneration With Macular Involvement	exonic	NM_007348	exon13	SNV	nonsynonymous SNV	RetinalMD_04290
ATF6	autosomal recessive achromatopsia	exonic	NM_007348	exon5	SNV	frameshift deletion	RetinalMD_04291
NEUROD1	retinitis pigmentosa??AR	exonic	NM_002500	exon2	SNV	nonsynonymous SNV	RetinalMD_04292
KCNJ13	Leber congenital amaurosis	exonic	NM_002242.4	exon2	SNV	stopgain	RetinalMD_04293
KCNJ13	vitreo-retinal dystrophy with early-onset cataract itreo-retinal dystrophy with early-onset catarac	exonic	NM_002242.4	exon2	SNV	nonsynonymous SNV	RetinalMD_04294
KCNJ13	Leber congenital amaurosis	exonic	NM_002242.4	exon2	SNV	nonsynonymous SNV	RetinalMD_04295
KCNJ13	Leber congenital amaurosis	exonic	NM_002242.4	exon3	SNV	nonsynonymous SNV	RetinalMD_04296
KCNJ13	retinitis pigmentosa??AR	exonic	NM_002242.4	exon3	SNV	nonsynonymous SNV	RetinalMD_04297
KCNJ13	retinitis pigmentosa??AR	exonic	NM_002242.4	exon3	SNV	nonsynonymous SNV	RetinalMD_04298
KCNJ13	Snowflake vitreoretinal degeneration	exonic	NM_002242.4	exon3	SNV	nonsynonymous SNV	RetinalMD_04299
SPP2	retinitis pigmentosa??AD	exonic	NM_002242.4	exon3	SNV	nonsynonymous SNV	RetinalMD_04300
SLC7A14	retinitis pigmentosa??AR	exonic	NM_020949	exon6	SNV	nonsynonymous SNV	RetinalMD_04301
SLC7A14	retinitis pigmentosa??AR	exonic	NM_020949	exon7	SNV	nonsynonymous SNV	RetinalMD_04302
SLC7A14	retinitis pigmentosa??AR	exonic	NM_020949	exon8	SNV	nonsynonymous SNV	RetinalMD_04303
SLC7A14	retinitis pigmentosa??AR	exonic	NM_020949	exon8	SNV	nonsynonymous SNV	RetinalMD_04304
SLC7A14	retinitis pigmentosa??AR	exonic	NM_020949	exon3	SNV	nonsynonymous SNV	RetinalMD_04305
SLC7A14	retinitis pigmentosa??AR	exonic	NM_020949	exon6	SNV	nonsynonymous SNV	RetinalMD_04306
SLC7A14	retinitis pigmentosa??AR	exonic	NM_020949	exon4	SNV	nonsynonymous SNV	RetinalMD_04307
SLC7A14	retinitis pigmentosa??AR	exonic	NM_020949	exon7	SNV	nonsynonymous SNV	RetinalMD_04308
PCYT1A	Cone-Rod Dystrophy	exonic	NM_005017	exon5	SNV	nonsynonymous SNV	RetinalMD_04309
PCYT1A	Cone-Rod Dystrophy	exonic	NM_005017	exon6	SNV	nonsynonymous SNV	RetinalMD_04310
HMX1	early-onset retinal dystrophy	exonic	NM_018942	exon2	SNV	nonsynonymous SNV	RetinalMD_04311
LRIT3	Congenital stationary night blindness	exonic	NM_198506.3	exon4	SNV	nonsynonymous SNV	RetinalMD_04312
LRIT3	Congenital stationary night blindness	exonic	NM_198506.3	exon4	SNV	nonsynonymous SNV	RetinalMD_04313
LRIT3	Congenital stationary night blindness	exonic	NM_198506.3	exon4	SNV	synonymous SNV	RetinalMD_04314
LRIT3	Congenital stationary night blindness	exonic	NM_198506.3	exon4	deletion	frameshift deletion	RetinalMD_04315
PLK4	Retinopathy, deafness	exonic	NM_014264	exon5	deletion	frameshift deletion	RetinalMD_04316
ABCA4	Stargardt disease	exonic	NM_000350.2	exon13	SNV	nonsynonymous SNV	RetinalMD_04317
ABCA4	Stargardt disease	exonic	NM_000350.2	exon36	SNV	stopgain	RetinalMD_04318
ABCA4	Stargardt disease	exonic	NM_000350.2	exon6	SNV	nonsynonymous SNV	RetinalMD_04319
ABCA4	Stargardt disease	exonic	NM_000350.2	exon17	SNV	stopgain	RetinalMD_04320
ABCA4	cone and cone-rod dystrophy	exonic	NM_000350.2	exon47	SNV	nonsynonymous SNV	RetinalMD_04321
ABCA4	cone and cone-rod dystrophy	exonic	NM_000350.2	exon13	SNV	nonsynonymous SNV	RetinalMD_04322
ABCA4	cone and cone-rod dystrophy	exonic	NM_000350.2	exon12	SNV	nonsynonymous SNV	RetinalMD_04323
ABCA4	cone and cone-rod dystrophy	exonic	NM_000350.2	exon34	SNV	nonsynonymous SNV	RetinalMD_04324
ABCA4	cone and cone-rod dystrophy	exonic	NM_000350.2	exon10	deletion	frameshift deletion	RetinalMD_04325
ABCA4	cone and cone-rod dystrophy	exonic	NM_000350.2	exon25	SNV	nonsynonymous SNV	RetinalMD_04326
AIPL1	cone and cone-rod dystrophy	exonic	NM_014336.4	exon4	SNV	nonsynonymous SNV	RetinalMD_04327
AIPL1	cone and cone-rod dystrophy	exonic	NM_014336.4	exon4	SNV	nonsynonymous SNV	RetinalMD_04328
C8orf37	arRP and arCRD	exonic	NM_177965	exon3	SNV	nonsynonymous SNV	RetinalMD_04329
CDHR1	cone and cone-rod dystrophy	exonic	NM_033100.3	exon5	SNV	nonsynonymous SNV	RetinalMD_04330
CRB1	arRP and arLCA	exonic	NM_201253.2	exon7	SNV	nonsynonymous SNV	RetinalMD_04331
CRB1	arRP and arLCA	exonic	NM_201253.2	exon5	SNV	nonsynonymous SNV	RetinalMD_04332
CRX	cone and cone-rod dystrophy	exonic	NM_000554.4	exon4	deletion	frameshift deletion	RetinalMD_04333
EYS	Retinitis pigmentosaAR	exonic	NM_001142800.1	exon7	deletion	synonymous SNV	RetinalMD_04334
EYS	Retinitis pigmentosaAR	exonic	NM_001142800.1	exon42	SNV	stopgain	RetinalMD_04335
GUCA1B	autosomal dominant RP	exonic	NM_002098.5	exon1	SNV	nonsynonymous SNV	RetinalMD_04336
IMPDH1	autosomal dominant RP	exonic	NM_000883.3	exon6	SNV	nonsynonymous SNV	RetinalMD_04337
NMNAT1	Leber congenital amaurosis	exonic	NM_022787.3	exon3	SNV	nonsynonymous SNV	RetinalMD_04338
PDE6C	cone and cone-rod dystrophy	exonic	NM_006204.3	exon2	deletion	frameshift deletion	RetinalMD_04339
PDE6C	cone and cone-rod dystrophy	exonic	NM_006204.3	exon11	SNV	nonsynonymous SNV	RetinalMD_04340
PROM1	arRP and arCRD	exonic	NM_006017.2	exon3	SNV	stopgain	RetinalMD_04341
PROM1	cone and cone-rod dystrophy	exonic	NM_006017.2	exon4	SNV	nonsynonymous SNV	RetinalMD_04342
PROM1	cone and cone-rod dystrophy	exonic	NM_006017.2	exon1	SNV	frameshift deletion	RetinalMD_04343
PROM1	cone and cone-rod dystrophy	exonic	NM_006017.2	exon23	SNV	nonsynonymous SNV	RetinalMD_04344
PROM1	cone and cone-rod dystrophy	exonic	NM_006017.2	exon13	SNV	synonymous SNV	RetinalMD_04345
PRPF31	autosomal dominant RP	exonic	NM_015629.3	exon9	insertion	frameshift deletion	RetinalMD_04346
PRPH2	macular disease	exonic	NM_000322.4	exon1	SNV	frameshift deletion	RetinalMD_04347
PRPH2	autosomal dominant RP	exonic	NM_000322.4	exon1	SNV	nonsynonymous SNV	RetinalMD_04348
RAB28	cone-rod dystrophy	exonic	NM_001017979.2	exon3	SNV	nonsynonymous SNV	RetinalMD_04349
RAB28	cone-rod dystrophy	exonic	NM_001017979.2	exon7	SNV	nonsynonymous SNV	RetinalMD_04350
RHO	autosomal dominant RP	exonic	NM_000539.3	exon4	SNV	nonsynonymous SNV	RetinalMD_04351
RP1	autosomal dominant RP	exonic	NM_006269.1	exon4	SNV	stopgain	RetinalMD_04352
RP1	autosomal dominant RP	exonic	NM_006269.1	exon4	deletion	frameshift deletion	RetinalMD_04353
RP1	autosomal dominant RP	exonic	NM_006269.1	exon4	deletion	stopgain	RetinalMD_04354
RP1	autosomal dominant RP	exonic	NM_006269.1	exon4	SNV	nonsynonymous SNV	RetinalMD_04355
RP2	Retinitis pigmentosaXL	exonic	NM_006915.2	-	deletion	-	RetinalMD_04356
RP2	autosomal dominant RP	exonic	NM_006915.2	-	deletion	-	RetinalMD_04357
RP2	retinitis pigmentosa with maculopathy	splicing	NM_006915.2	-	SNV	-	RetinalMD_04358
RPGR	autosomal dominant RP	intergenic	NM_000328.2	-	SNV	-	RetinalMD_04359
RPGRIP1	cone and cone-rod dystrophy	exonic	NM_020366.3	exon14	SNV	nonsynonymous SNV	RetinalMD_04360
SEMA4A	cone and cone-rod dystrophy	exonic	NM_022367.3	exon3	SNV	nonsynonymous SNV	RetinalMD_04361
SEMA4A	cone and cone-rod dystrophy	exonic	NM_022367.3	exon3	SNV	stopgain	RetinalMD_04362
USH2A	Retinitis pigmentosaAR	exonic	NM_206933.2	exon4	SNV	nonsynonymous SNV	RetinalMD_04363
USH2A	retinitis pigmentosa	exonic	NM_206933.2	exon63	SNV	nonsynonymous SNV	RetinalMD_04364
CRB1	Leber congenital amaurosis	exonic	NM_201253.2	exon9	SNV	nonsynonymous SNV	RetinalMD_04365
CRB1	retinitis pigmentosa	exonic	NM_201253.2	exon12	SNV	nonsynonymous SNV	RetinalMD_04366
CRB1	early onset retinal dystrophy	exonic	NM_201253.2	exon2	deletion	frameshift deletion	RetinalMD_04367
CRB1	early-onset retinal dystrophy	exonic	NM_201253.2	exon6	SNV	nonsynonymous SNV	RetinalMD_04368
CRB1	early-onset retinal dystrophy	exonic	NM_201253.2	exon9	SNV	nonsynonymous SNV	RetinalMD_04369
CRB1	early-onset retinal dystrophy	exonic	NM_201253.2	exon9	SNV	nonsynonymous SNV	RetinalMD_04370
CRB1	early-onset retinal dystrophy	exonic	NM_201253.2	exon11	SNV	nonsynonymous SNV	RetinalMD_04371
CRB1	early-onset retinal dystrophy	exonic	NM_201253.2	exon12	SNV	frameshift substitution	RetinalMD_04372
CRB1	Leber congenital amaurosis	exonic	NM_201253.2	exon12	SNV	nonsynonymous SNV	RetinalMD_04373
CRB1	retinitis pigmentosa	exonic	NM_201253.2	exon9	deletion	frameshift deletion	RetinalMD_04374
PDE6B	Retinitis Pigmentosa	exonic	NM_001145291	exon13	SNV	nonsynonymous SNV	RetinalMD_04375
ABCA4	Stargardt disease	exonic	NM_000350.2	exon13	SNV	synonymous SNV	RetinalMD_04376
AIPL1	Leber congenital amaurosis	exonic	NM_014336.4	exon2	SNV	stopgain	RetinalMD_04377
AIPL1	Leber congenital amaurosis	exonic	NM_014336.4	-	deletion	-	RetinalMD_04378
CDH23	Usher syndrome type I	exonic	NM_052836	exon7	SNV	nonsynonymous SNV	RetinalMD_04379
CDH23	Usher syndrome type I	upstream	NM_001171933	-	SNV	-	RetinalMD_04380
CEP290	Leber congenital amaurosis	intronic	ENST00000309041	-	deletion	-	RetinalMD_04381
CNGA1	retinitis pigmentosa	exonic	ENST00000544810	-	SNV	nonsynonymous SNV	RetinalMD_04382
CNGB1	retinitis pigmentosa	exonic	NM_001297	exon25	SNV	nonsynonymous SNV	RetinalMD_04383
CRB1	Leber congenital amaurosis	exonic	NM_201253.2	exon7	SNV	stopgain	RetinalMD_04384
ADGRV1	Usher syndrome type II	exonic	NM_032119	exon74	deletion	frameshift deletion	RetinalMD_04385
GUCY2D	Leber congenital amaurosis	exonic	NM_000180	exon3	deletion	frameshift deletion	RetinalMD_04386
GUCY2D	Leber congenital amaurosis	exonic	NM_000180	exon12	deletion	frameshift deletion	RetinalMD_04387
IQCB1	Leber congenital amaurosis	exonic	NM_001023570	exon13	SNV	synonymous SNV	RetinalMD_04388
MERTK	arRP	exonic	NM_006343	exon4	SNV	stopgain	RetinalMD_04389
MYO7A	Usher syndrome	exonic	NM_000260	exon33	SNV	stopgain	RetinalMD_04390
MYO7A	Usher syndrome type I	exonic	NM_000260	exon5	SNV	stopgain	RetinalMD_04391
PCDH15	Usher syndrome type I	exonic	NM_001142772	-	deletion	frameshift deletion	RetinalMD_04392
PCDH15	Usher syndrome type I	exonic	NM_001142772	-	SNV	-	RetinalMD_04393
RHO	adRP	exonic	NM_000539	exon3	SNV	nonsynonymous SNV	RetinalMD_04394
RPGR	XL-RP	exonic	NM_001034853	-	SNV	-	RetinalMD_04395
SPATA7	Leber congenital amaurosis	exonic	NM_018418	exon7	SNV	nonsynonymous SNV	RetinalMD_04396
USH1C	Usher syndrome	exonic	NM_153676	exon12	deletion	frameshift deletion	RetinalMD_04397
USH1G	Usher syndrome type I	exonic	NM_173477	exon2	SNV	synonymous SNV	RetinalMD_04398
USH2A	Usher syndrome type II	exonic	NM_206933.2	exon42	SNV	nonsynonymous SNV	RetinalMD_04399
USH2A	Usher syndrome type II	exonic	NM_206933.2	exon63	SNV	nonframeshift substitution	RetinalMD_04400
USH2A	USHER2	exonic	NM_206933.2	exon12	SNV	nonsynonymous SNV	RetinalMD_04401
USH2A	Usher syndrome type II	exonic	NM_206933.2	exon50	deletion	frameshift deletion	RetinalMD_04402
USH2A	Usher syndrome type II	exonic	NM_206933.2	exon27	deletion	frameshift deletion	RetinalMD_04403
USH2A	Usher syndrome type II	exonic	NM_206933.2	exon25	SNV	nonsynonymous SNV	RetinalMD_04404
USH2A	Usher syndrome type II	exonic	NM_206933.2	exon10	SNV	synonymous SNV	RetinalMD_04405
USH2A	Usher syndrome type II	exonic	NM_206933.2	exon63	SNV	nonsynonymous SNV	RetinalMD_04406
USH2A	Usher syndrome type II	exonic	NM_206933.2	exon30	deletion	frameshift deletion	RetinalMD_04407
USH2A	Usher syndrome	exonic	NM_206933.2	exon63	SNV	synonymous SNV	RetinalMD_04408
USH2A	Usher syndrome	exonic	NM_206933.2	exon21	SNV	nonsynonymous SNV	RetinalMD_04409
USH2A	Usher syndrome	exonic	NM_206933.2	exon70	deletion	frameshift deletion	RetinalMD_04410
USH2A	Usher syndrome	exonic	NM_206933.2	-	SNV	-	RetinalMD_04411
USH2A	Usher syndrome type II	exonic	NM_206933.2	exon61	deletion	frameshift deletion	RetinalMD_04412
USH2A	Usher syndrome type II	exonic	NM_206933.2	exon3	insertion	frameshift insertion	RetinalMD_04413
USH2A	Usher syndrome type II	exonic	NM_206933.2	exon64	insertion	frameshift insertion	RetinalMD_04414
USH2A	Usher syndrome type II	exonic	NM_206933.2	exon65	SNV	nonsynonymous SNV	RetinalMD_04415
USH2A	Usher syndrome type II	exonic	NM_206933.2	exon66	SNV	synonymous SNV	RetinalMD_04416
USH2A	Usher syndrome type II	exonic	NM_206933.2	exon43	SNV	nonsynonymous SNV	RetinalMD_04417
USH2A	retinitis pigmentosa	exonic	NM_206933.2	exon58	SNV	synonymous SNV	RetinalMD_04418
USH2A	retinitis pigmentosa	exonic	NM_206933.2	exon65	SNV	synonymous SNV	RetinalMD_04419
USH2A	RP sine pigmento	exonic	NM_206933.2	exon42	SNV	synonymous SNV	RetinalMD_04420
USH2A	RP sine pigmento	exonic	NM_206933.2	exon50	SNV	nonsynonymous SNV	RetinalMD_04421
USH2A	usher syndrome type 2	exonic	NM_206933.2	exon42	SNV	nonsynonymous SNV	RetinalMD_04422
USH2A	usher syndrome type 2	exonic	NM_206933.2	exon57	SNV	nonsynonymous SNV	RetinalMD_04423
USH3A	Usher syndrome	ncRNA_exonic			SNV	-	RetinalMD_04424
MYO7A	Usher syndrome (USH)	exonic	NM_000260	exon33	SNV	stopgain	RetinalMD_04425
USH1G	?Usher syndrome type 1 (USH1)	exonic			insertion	-	RetinalMD_04426
BBS1	Bardet Biedl syndrome	exonic	NM_024649	exon10	deletion	frameshift deletion	RetinalMD_04427
BBS10	Bardet Biedl syndrome	exonic	NM_024685	exon2	SNV	nonsynonymous SNV	RetinalMD_04428
BBS10	Bardet Biedl syndrome	exonic	NM_024685		insertion	-	RetinalMD_04429
BBS10	Bardet Biedl syndrome	exonic	NM_024685	exon2	deletion	frameshift deletion	RetinalMD_04430
BBS2	Bardet Biedl syndrome	exonic	NM_031885	exon2	deletion	frameshift deletion	RetinalMD_04431
BBS4	Bardet Biedl syndrome	splicing	NM_001252678		SNV	-	RetinalMD_04432
BBS7	Bardet Biedl syndrome	exonic	NM_018190	exon4	SNV	nonsynonymous SNV	RetinalMD_04433
BBS7	Bardet Biedl syndrome	exonic	NM_018190	exon6	SNV	nonsynonymous SNV	RetinalMD_04434
BBS7	Bardet Biedl syndrome	exonic	NM_018190	exon7	deletion	frameshift deletion;frameshift deletion	RetinalMD_04435
BBS7	Bardet Biedl syndrome	exonic	NM_018190	exon11	SNV	stopgain	RetinalMD_04436
BBS7	Bardet Biedl syndrome	exonic	NM_018190	exon4	SNV	synonymous SNV	RetinalMD_04437
BBS7	Bardet Biedl syndrome	exonic	NM_018190	exon7	deletion	frameshift deletion;frameshift deletion	RetinalMD_04438
BBS7	Bardet Biedl syndrome	exonic	NM_018190	exon10	SNV	nonsynonymous SNV	RetinalMD_04439
BBS9	Bardet Biedl syndrome	exonic	NM_001033604	exon2	deletion	frameshift deletion	RetinalMD_04440
CDH23	Usher syndrome	exonic	NM_001171930	-	SNV	nonsynonymous SNV;nonsynonymous SNV	RetinalMD_04441
CDH23	Usher syndrome	exonic	NM_001171930	exon10	SNV	nonsynonymous SNV	RetinalMD_04442
CDH23	Usher syndrome	exonic	NM_001171930	exon25	SNV	nonsynonymous SNV	RetinalMD_04443
CDH23	Usher syndrome	exonic	NM_001171930	exon44	SNV	nonsynonymous SNV	RetinalMD_04444
CDH23	Usher syndrome	exonic	NM_022124	exon66	SNV	nonsynonymous SNV	RetinalMD_04445
CDH23	Usher syndrome	splicing	-	-	deletion	-	RetinalMD_04446
CDH23	Usher syndrome	splicing	-	-	SNV	-	RetinalMD_04447
CDH23	Usher syndrome	exonicc		-	SNV	nonsynonymous SNV;nonsynonymous SNV	RetinalMD_04448
CDH23	Usher syndrome	exonic		exon11	SNV	nonsynonymous SNV	RetinalMD_04449
DFNB31	Usher syndrome	exonic	NM_001083885	exon9	SNV	nonsynonymous SNV	RetinalMD_04450
DFNB31	Usher syndrome	exonic	NM_001173425	exon1	SNV	synonymous SNV	RetinalMD_04451
GPR98	Usher syndrome	exonic	NM_032119	exon11	deletion	frameshift deletion	RetinalMD_04452
GPR98	Usher syndrome	exonic	NM_032119	exon14	deletion	frameshift deletion	RetinalMD_04453
GPR98	Usher syndrome	exonic	NM_032119	exon19	SNV	nonsynonymous SNV	RetinalMD_04454
GPR98	Usher syndrome	exonic	NM_032119	exon58	SNV	nonsynonymous SNV	RetinalMD_04455
GPR98	Usher syndrome	exonic	NM_032119	exon70	SNV	nonsynonymous SNV	RetinalMD_04456
GUCY2D?	Cone-rod dystrophy	exonic	NM_000180	exon13	SNV	nonsynonymous SNV	RetinalMD_04457
GUCY2D?	Cone-rod dystrophy	exonic	NM_000180	exon13	SNV	nonsynonymous SNV	RetinalMD_04458
MYO7A	Usher syndrome	exonic	NM_000260	exon40	SNV	nonsynonymous SNV	RetinalMD_04459
MYO7A	Usher syndrome	exonic	NM_000260	exon27	SNV	nonsynonymous SNV;nonsynonymous SNV	RetinalMD_04460
MYO7A	Usher syndrome	exonic	NM_000260	exon43	deletion	frameshift deletion	RetinalMD_04461
MYO7A	Usher syndrome	exonic	NM_000260	exon43	SNV	nonsynonymous SNV	RetinalMD_04462
MYO7A	Usher syndrome	exonic	NM_000260	exon44	deletion	frameshift deletion;frameshift deletion	RetinalMD_04463
MYO7A	Usher syndrome	exonic	NM_000260	exon40	SNV	nonsynonymous SNV	RetinalMD_04464
MYO7A	Usher syndrome	splicing	-	-	SNV	-	RetinalMD_04465
MYO7A	Usher syndrome	exonic	NM_000260	exon28	SNV	stopgain	RetinalMD_04466
MYO7A	Usher syndrome	exonic	NM_000260	exon6	SNV	nonsynonymous SNV	RetinalMD_04467
MYO7A	Usher syndrome	exonic	NM_000260	exon39	SNV	stopgain	RetinalMD_04468
MYO7A	Usher syndrome	exonic	NM_000260	exon27	SNV	nonsynonymous SNV;nonsynonymous SNV	RetinalMD_04469
MYO7A	Usher syndrome	exonic	NM_000260	exon7	SNV	nonsynonymous SNV	RetinalMD_04470
MYO7A	Usher syndrome	exonic	NM_000260	exon42	SNV	stopgain	RetinalMD_04471
MYO7A	Usher syndrome	exonic	NM_000260	exon49	SNV	nonsynonymous SNV	RetinalMD_04472
MYO7A	Usher syndrome	exonic	NM_000260	exon44	deletion	frameshift deletion;frameshift deletion	RetinalMD_04473
PCDH15	Usher syndrome	exonic	NM_001142763	exon2	SNV	stopgain	RetinalMD_04474
PRPH2	Cone-rod dystrophy	exonic	NM_000322	exon3	SNV	nonsynonymous SNV	RetinalMD_04475
TTC8	Bardet Biedl syndrome	exonic	NM_001288781	exon4	SNV	nonsynonymous SNV	RetinalMD_04476
UNC119	Cone-rod dystrophy	exonic	NM_005148	exon2	SNV	nonsynonymous SNV	RetinalMD_04477
USH1C	arRP	intronic			deletion	-	RetinalMD_04478
USH1C	Usher syndrome	upstream			SNV	-	RetinalMD_04479
USH1C	Usher syndrome	intronic			SNV	-	RetinalMD_04480
USH1C	Usher syndrome (USH)	intronic			SNV	-	RetinalMD_04481
USH1C	Sector RP and hearing loss	intergenic			SNV	-	RetinalMD_04482
USH1G	Usher syndrome	exonic	NM_173477	exon2	SNV	stopgain	RetinalMD_04483
USH2A	Usher syndrome	exonic	NM_206933	exon26	deletion	frameshift deletion	RetinalMD_04484
USH2A	Usher syndrome	exonic	NM_007123	exon13	deletion	frameshift deletion;frameshift deletion	RetinalMD_04485
USH2A	Usher syndrome	exonic	NM_206933	exon55	deletion	frameshift deletion	RetinalMD_04486
USH2A	Usher syndrome	exonic	NM_007123	exon13	SNV	nonsynonymous SNV;nonsynonymous SNV	RetinalMD_04487
USH2A	Usher syndrome	exonic	-	-	SNV	nonsynonymous SNV	RetinalMD_04488
USH2A	Usher syndrome	exonic	NM_206933	exon50	SNV	nonsynonymous SNV;nonsynonymous SNV	RetinalMD_04489
USH2A	Usher syndrome	exonic	NM_206933	exon57	SNV	stopgain	RetinalMD_04490
USH2A	Usher syndrome	exonic	NM_206933	-	SNV	synonymous SNV	RetinalMD_04491
USH2A	Usher syndrome	exonic	NM_206933	exon21	SNV	stopgain	RetinalMD_04492
USH2A	Usher syndrome	exonic	NM_206933	exon2	SNV	nonsynonymous SNV	RetinalMD_04493
USH2A	Usher syndrome	exonic	NM_206933	exon25	SNV	nonsynonymous SNV	RetinalMD_04494
USH2A	Usher syndrome	exonic	NM_206933	exon7	deletion	frameshift deletion	RetinalMD_04495
USH2A	Usher syndrome	exonic	NM_206933	-	SNV	synonymous SNV	RetinalMD_04496
USH2A	Usher syndrome	exonic	NM_206933	exon62	deletion	stopgain	RetinalMD_04497
USH2A	Usher syndrome	exonic	NM_206933	exon28	SNV	nonsynonymous SNV	RetinalMD_04498
USH2A	Usher syndrome	exonic	NM_206933	exon13	deletion	frameshift deletion;frameshift deletion	RetinalMD_04499
USH2A	Usher syndrome	exonic	NM_206933	exon41	SNV	stopgain	RetinalMD_04500
USH2A	Usher syndrome	exonic	NM_206933	exon50	SNV	nonsynonymous SNV;nonsynonymous SNV	RetinalMD_04501
USH2A	Usher syndrome	exonic	NM_206933	exon13	SNV	nonsynonymous SNV;nonsynonymous SNV	RetinalMD_04502
USH2A	Usher syndrome (USH)	exonic	NM_206933	exon70	deletion	frameshift deletion	RetinalMD_04503
USH2A	Usher syndrome (USH)	exonic			insertion	-	RetinalMD_04504
WDPCP	Bardet Biedl syndrome	exonic	NM_015910	exon2	SNV	nonsynonymous SNV	RetinalMD_04505
WFS1	Wolfram syndrome	exonic	NM_001145853	exon4	SNV	nonsynonymous SNV	RetinalMD_04506
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	SNV	stopgain	RetinalMD_04507
WFS1	Wolfram syndrome	exonic	NM_001145853	exon7	SNV	stopgain	RetinalMD_04508
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	deletion	frameshift deletion	RetinalMD_04509
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	SNV	stopgain	RetinalMD_04510
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	insertion	frameshift insertion	RetinalMD_04511
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	SNV	stopgain	RetinalMD_04512
WFS1	Wolfram syndrome	exonic	NM_001145853	exon5	deletion	nonframeshift deletion	RetinalMD_04513
WFS1	Wolfram syndrome	exonic	NM_001145853	exon5	SNV	nonsynonymous SNV	RetinalMD_04514
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	deletion	frameshift deletion	RetinalMD_04515
WFS1	Wolfram syndrome	exonic	NM_001145853	exon7	SNV	nonsynonymous SNV	RetinalMD_04516
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	SNV	nonsynonymous SNV	RetinalMD_04517
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	insertion	nonframeshift insertion	RetinalMD_04518
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	SNV	nonsynonymous SNV	RetinalMD_04519
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	SNV	nonsynonymous SNV	RetinalMD_04520
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	SNV	nonsynonymous SNV	RetinalMD_04521
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	SNV	nonsynonymous SNV	RetinalMD_04522
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	SNV	nonsynonymous SNV	RetinalMD_04523
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	SNV	stopgain	RetinalMD_04524
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	SNV	nonsynonymous SNV	RetinalMD_04525
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	SNV	nonsynonymous SNV	RetinalMD_04526
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	SNV	nonsynonymous SNV	RetinalMD_04527
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	SNV	nonsynonymous SNV	RetinalMD_04528
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	SNV	nonsynonymous SNV	RetinalMD_04529
WFS1	Wolfram syndrome	exonic	NM_001145853	exon7	deletion	frameshift deletion	RetinalMD_04530
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	deletion	frameshift deletion	RetinalMD_04531
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	SNV	nonsynonymous SNV	RetinalMD_04532
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	SNV	nonsynonymous SNV	RetinalMD_04533
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	SNV	nonsynonymous SNV	RetinalMD_04534
WFS1	Wolfram syndrome	exonic	NM_001145853	exon5	SNV	nonsynonymous SNV	RetinalMD_04535
WFS1	Wolfram syndrome	exonic	NM_001145853	-	insertion	-	RetinalMD_04536
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	SNV	nonsynonymous SNV	RetinalMD_04537
WFS1	Wolfram syndrome	exonic	NM_001145853	exon4	SNV	nonsynonymous SNV	RetinalMD_04538
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	SNV	stopgain	RetinalMD_04539
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	SNV	nonsynonymous SNV	RetinalMD_04540
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	SNV	nonsynonymous SNV	RetinalMD_04541
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	deletion	frameshift deletion	RetinalMD_04542
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	SNV	stopgain;stopgain	RetinalMD_04543
WFS1	Wolfram syndrome	exonic	NM_001145853	exon7	deletion	frameshift deletion	RetinalMD_04544
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	SNV	nonsynonymous SNV	RetinalMD_04545
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	SNV	nonsynonymous SNV	RetinalMD_04546
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	SNV	frameshift deletion	RetinalMD_04547
WFS1	Wolfram syndrome	exonic	NM_001145853	-	insertion	-	RetinalMD_04548
WFS1	Wolfram syndrome	exonic	NM_001145853	exon5	deletion	frameshift deletion	RetinalMD_04549
WFS1	Wolfram syndrome	intronic	NM_001145853	-	SNV	-	RetinalMD_04550
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	SNV	nonsynonymous SNV	RetinalMD_04551
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	SNV	nonsynonymous SNV	RetinalMD_04552
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	SNV	nonsynonymous SNV	RetinalMD_04553
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	SNV	nonsynonymous SNV	RetinalMD_04554
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	SNV	stopgain;stopgain	RetinalMD_04555
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	SNV	stopgain	RetinalMD_04556
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	SNV	nonsynonymous SNV	RetinalMD_04557
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	SNV	nonsynonymous SNV	RetinalMD_04558
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	SNV	synonymous SNV	RetinalMD_04559
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	SNV	nonsynonymous SNV	RetinalMD_04560
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	SNV	nonsynonymous SNV	RetinalMD_04561
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	SNV	stopgain	RetinalMD_04562
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	deletion	frameshift deletion	RetinalMD_04563
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	SNV	nonsynonymous SNV	RetinalMD_04564
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	insertion	frameshift insertion	RetinalMD_04565
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	SNV	nonsynonymous SNV	RetinalMD_04566
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	SNV	stopgain	RetinalMD_04567
WFS1	Wolfram syndrome	exonic	NM_001145853	-	deletion	-	RetinalMD_04568
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	SNV	nonsynonymous SNV	RetinalMD_04569
WFS1	Wolfram syndrome	exonic	NM_001145853	exon5	SNV	nonsynonymous SNV	RetinalMD_04570
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	deletion	nonframeshift	RetinalMD_04571
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	SNV	stopgain	RetinalMD_04572
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	SNV	nonsynonymous	RetinalMD_04573
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	SNV	nonsynonymous	RetinalMD_04574
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	SNV	nonsynonymous	RetinalMD_04575
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	SNV	synonymous	RetinalMD_04576
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	SNV	synonymous	RetinalMD_04577
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	SNV	synonymous	RetinalMD_04578
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	deletion	nonframeshift	RetinalMD_04579
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	SNV	nonsynonymous	RetinalMD_04580
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	deletion	nonframeshift	RetinalMD_04581
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	deletion	frameshift	RetinalMD_04582
WFS1	Wolfram syndrome	exonic	NM_001145853	exon8	SNV	nonsynonymous	RetinalMD_04583