Total 88 pathogenic variants reported for Juvenile retinoschisis 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000330.4(RS1):c.286T>C (p.Trp96Arg) SNV
Germline		 ChrX:18647231 Pathogenic Juvenile retinoschisis
Condition: not provided
Retinal dystrophy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA226653 rs_61752063

9 SubmittersRCV000010564RCV000085262RCV001074398
NM_000330.4(RS1):c.304C>T (p.Arg102Trp) SNV
Germline		 ChrX:18647213 Pathogenic Juvenile retinoschisis
Condition: not provided
Retinal dystrophy
Retinoschisis		 Reviewed By Expert Panel
 CA226667 rs_61752067

11 SubmittersRCV000010565RCV000085268RCV000210291RCV004798720
NM_000330.4(RS1):c.216G>C (p.Glu72Asp) SNV
Germline		 ChrX:18647301 Pathogenic Juvenile retinoschisis
Condition: not provided		 Criteria Provided
Single Submitter
 CA226626 rs_104894932

3 SubmittersRCV000010567RCV000085251
NM_000330.4(RS1):c.221G>T (p.Gly74Val) SNV
Germline		 ChrX:18647296 Pathogenic Juvenile retinoschisis
Condition: not provided
Retinal dystrophy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA226631 rs_104894933

4 SubmittersRCV000010568RCV000085254RCV004814879
NM_000330.4(RS1):c.325G>C (p.Gly109Arg) SNV
Germline		 ChrX:18647192 Pathogenic Juvenile retinoschisis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA226679 rs_104894934

5 SubmittersRCV000010569RCV000085274
NM_000330.4(RS1):c.38T>C (p.Leu13Pro) SNV
Germline		 ChrX:18672031 Pathogenic/Likely pathogenic Juvenile retinoschisis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA226709 rs_104894935

4 SubmittersRCV000010570RCV000085290
NM_000330.4(RS1):c.667T>C (p.Cys223Arg) SNV
Germline		 ChrX:18642012 Pathogenic Juvenile retinoschisis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA254929 rs_104894929

3 SubmittersRCV000010571RCV001385707
NM_000330.4(RS1):c.608C>T (p.Pro203Leu) SNV
Germline		 ChrX:18642071 Pathogenic/Likely pathogenic Juvenile retinoschisis
Condition: not provided
Retinoschisis
Retinal dystrophy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA226813 rs_104894930

10 SubmittersRCV000010573RCV000085344RCV001003214RCV001074001
NM_000330.4(RS1):c.305G>A (p.Arg102Gln) SNV
Germline		 ChrX:18647212 Pathogenic Juvenile retinoschisis
Condition: not provided
Retinal dystrophy
RS1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA226669 rs_61752068

12 SubmittersRCV000010574RCV000085269RCV001073575RCV003415684
NM_000330.4(RS1):c.349C>T (p.Gln117Ter) SNV
Germline		 ChrX:18644603 Pathogenic Macular schisis
Peripheral schisis
Juvenile retinoschisis
Juvenile retinoschisis		 Criteria Provided
Single Submitter
 CA265996 rs_199469696

2 SubmittersRCV000058876RCV001807775
NM_000330.4(RS1):c.185-1G>C SNV
Germline		 ChrX:18647333 Pathogenic Condition: not provided
Juvenile retinoschisis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA226608 rs_281865344

3 SubmittersRCV000085243RCV001199775
NM_000330.4(RS1):c.209G>A (p.Gly70Asp) SNV
Unknown		 ChrX:18647308 Likely pathogenic Condition: not provided
Juvenile retinoschisis		 Criteria Provided
Single Submitter
 CA226618 rs_62645895

2 SubmittersRCV000085248RCV001352955
NM_000330.4(RS1):c.214G>C (p.Glu72Gln) SNV
Germline		 ChrX:18647303 Pathogenic/Likely pathogenic Condition: not provided
Juvenile retinoschisis
Retinal dystrophy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA226623 rs_104894928

5 SubmittersRCV000085250RCV002477251RCV004815054
NM_000330.4(RS1):c.276G>C (p.Trp92Cys) SNV
Germline		 ChrX:18647241 Pathogenic Condition: not provided
Retinal dystrophy
Juvenile retinoschisis		 Reviewed By Expert Panel
 CA226650 rs_61752062

5 SubmittersRCV000085261RCV004815056RCV005411323
NM_000330.4(RS1):c.326+1G>A SNV
Germline		 ChrX:18647190 Pathogenic Condition: not provided
Juvenile retinoschisis		 Reviewed By Expert Panel
 CA226683 rs_281865346

2 SubmittersRCV000085276RCV005411324
NM_000330.4(RS1):c.337C>T (p.Leu113Phe) SNV
Germline		 ChrX:18644615 Likely pathogenic Condition: not provided
Retinal dystrophy
Juvenile retinoschisis		 Reviewed By Expert Panel
 CA226697 rs_61752145

5 SubmittersRCV000085283RCV001075784RCV005411326
NM_000330.4(RS1):c.421C>G (p.Arg141Gly) SNV
Germline		 ChrX:18644531 Likely pathogenic Condition: not provided
Juvenile retinoschisis		 Reviewed By Expert Panel
 CA226726 rs_61752158

4 SubmittersRCV000085299RCV005411329
NM_000330.4(RS1):c.421C>T (p.Arg141Cys) SNV
Germline		 ChrX:18644531 Pathogenic Condition: not provided
Retinoschisis
Juvenile retinoschisis
Retinal dystrophy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA226728 rs_61752158

7 SubmittersRCV000085300RCV001003217RCV003467004RCV004815061
NM_000330.4(RS1):c.422G>A (p.Arg141His) SNV
Germline		 ChrX:18644530 Pathogenic Condition: not provided
Juvenile retinoschisis
Retinal dystrophy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA226730 rs_61752159

6 SubmittersRCV000085301RCV000411096RCV004815062
NM_000330.4(RS1):c.522+1G>A SNV
Germline		 ChrX:18644429 Pathogenic Condition: not provided
Juvenile retinoschisis
Retinal dystrophy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA226768 rs_281865348

5 SubmittersRCV000085320RCV000411037RCV001075780
NM_000330.4(RS1):c.544C>T (p.Arg182Cys) SNV
Germline		 ChrX:18642135 Pathogenic/Likely pathogenic Condition: not provided
Juvenile retinoschisis
Retinal dystrophy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA226778 rs_61753171

6 SubmittersRCV000085327RCV001353044RCV004815066
NM_000330.4(RS1):c.554C>T (p.Thr185Met) SNV
Germline		 ChrX:18642125 Likely pathogenic Condition: not provided
Juvenile retinoschisis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA226781 rs_61753173

3 SubmittersRCV000085329RCV005417458
NM_000330.4(RS1):c.574C>T (p.Pro192Ser) SNV
Germline		 ChrX:18642105 Pathogenic Condition: not provided
Juvenile retinoschisis
Retinal dystrophy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA226787 rs_61753174

8 SubmittersRCV000085331RCV000169568RCV001075730
NM_000330.4(RS1):c.589C>T (p.Arg197Cys) SNV
Germline		 ChrX:18642090 Pathogenic Condition: not provided
Retinal dystrophy
Juvenile retinoschisis		 Reviewed By Expert Panel
 CA226797 rs_281865354

7 SubmittersRCV000085337RCV001073323RCV002272064
NM_000330.4(RS1):c.598C>T (p.Arg200Cys) SNV
Germline		 ChrX:18642081 Pathogenic/Likely pathogenic Condition: not provided
Retinal dystrophy
Juvenile retinoschisis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA226806 rs_281865357

9 SubmittersRCV000085341RCV001074817RCV001353041
NM_000330.4(RS1):c.637C>T (p.Arg213Trp) SNV
Germline		 ChrX:18642042 Pathogenic Condition: not provided
Juvenile retinoschisis
Developmental and epileptic encephalopathy, 2
Retinal dystrophy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA226830 rs_281865365

8 SubmittersRCV000085351RCV001753489RCV004767069RCV004815074
NM_000330.4(RS1):c.638G>A (p.Arg213Gln) SNV
Germline		 ChrX:18642041 Pathogenic Condition: not provided
Juvenile retinoschisis
Retinal dystrophy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA226832 rs_281865364

4 SubmittersRCV000085352RCV004566982RCV004815075
NM_000330.4(RS1):c.647T>C (p.Leu216Pro) SNV
Germline		 ChrX:18642032 Likely pathogenic Condition: not provided
Retinal dystrophy
Juvenile retinoschisis		 Reviewed By Expert Panel
 CA226839 rs_281865368

4 SubmittersRCV000085356RCV001075517RCV005411332
NM_000330.4(RS1):c.68C>A (p.Ser23Ter) SNV
Germline		 ChrX:18657650 Pathogenic Condition: not provided
Juvenile retinoschisis		 Reviewed By Expert Panel
 CA226850 rs_62645882

2 SubmittersRCV000085362RCV005411333
NM_000330.4(RS1):c.76G>T (p.Glu26Ter) SNV
Germline		 ChrX:18657642 Likely pathogenic Condition: not provided
Juvenile retinoschisis		 Reviewed By Expert Panel
 CA226853 rs_140983930

2 SubmittersRCV000085363RCV005411334
NM_000330.4(RS1):c.78+1G>A SNV
Germline		 ChrX:18657639 Pathogenic Condition: not provided
Juvenile retinoschisis		 Reviewed By Expert Panel
 CA226856 rs_281865341

3 SubmittersRCV000085364RCV005411335
NM_000330.4(RS1):c.498C>A (p.Tyr166Ter) SNV
Germline		 ChrX:18644454 Pathogenic Juvenile retinoschisis
Condition: not provided		 Reviewed By Expert Panel
 CA16042049 rs_1057516744

3 SubmittersRCV000411199RCV001380798
NM_000330.4(RS1):c.208G>A (p.Gly70Ser) SNV
Germline		 ChrX:18647309 Pathogenic Condition: not provided
Retinal dystrophy
Juvenile retinoschisis
RS1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16043201 rs_62645894

7 SubmittersRCV000412918RCV001074417RCV000984306RCV003392227
NM_000330.4(RS1):c.668G>A (p.Cys223Tyr) SNV
Germline		 ChrX:18642011 Pathogenic Condition: not provided
Juvenile retinoschisis		 Reviewed By Expert Panel
 CA16043215 rs_1057517816

3 SubmittersRCV000413709RCV005411421
NM_000330.4(RS1):c.1A>T (p.Met1Leu) SNV
Germline		 ChrX:18672068 Pathogenic Condition: not provided
Juvenile retinoschisis		 Reviewed By Expert Panel
 CA412379329 rs_281865332

3 SubmittersRCV000578886RCV005411494
NM_000330.4(RS1):c.366G>A (p.Trp122Ter) SNV
Germline		 ChrX:18644586 Pathogenic/Likely pathogenic Condition: not provided
Juvenile retinoschisis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412372230 rs_61752147

3 SubmittersRCV000659145RCV001199774
NM_000330.4(RS1):c.176G>A (p.Cys59Tyr) SNV
Germline		 ChrX:18656661 Likely pathogenic Retinal dystrophy
Juvenile retinoschisis		 Reviewed By Expert Panel
 CA412376054 rs_1928220547

3 SubmittersRCV001074361RCV005411659
NM_000330.4(RS1):c.53-1G>A SNV
Germline		 ChrX:18657666 Pathogenic/Likely pathogenic Retinal dystrophy
Juvenile retinoschisis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412376925 rs_1928241490

2 SubmittersRCV001075307RCV001727839
NM_000330.4(RS1):c.215A>G (p.Glu72Gly) SNV
Germline		 ChrX:18647302 Pathogenic Juvenile retinoschisis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412372956 rs_1927823799

3 SubmittersRCV001283764RCV001871647
NM_000330.4(RS1):c.409C>T (p.Leu137Phe) SNV
Germline		 ChrX:18644543 Conflicting classifications of pathogenicity Condition: not provided
Juvenile retinoschisis		 Criteria Provided
Conflicting Classifications
 CA412371948 rs_1927700931

2 SubmittersRCV001324033RCV001587345
NM_000330.4(RS1):c.150G>A (p.Trp50Ter) SNV
Germline		 ChrX:18656687 Pathogenic/Likely pathogenic Juvenile retinoschisis Criteria Provided
Multiple Submitters
No Conflicts
 CA412376210 rs_200866925

2 SubmittersRCV001353045
NM_000330.4(RS1):c.227T>A (p.Val76Asp) SNV
Germline		 ChrX:18647290 Pathogenic Condition: not provided
Juvenile retinoschisis		 Reviewed By Expert Panel
 CA412372934 rs_2147194138

2 SubmittersRCV001377412RCV005411733
NM_000330.4(RS1):c.52+3A>G SNV
Germline		 ChrX:18672014 Likely pathogenic Juvenile retinoschisis
Retinoschisis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA915940885 rs_2147209764

3 SubmittersRCV001733782RCV004798926RCV005416544
NM_000330.4(RS1):c.460C>G (p.Gln154Glu) SNV
Germline		 ChrX:18644492 Conflicting classifications of pathogenicity Condition: not provided
Juvenile retinoschisis		 Criteria Provided
Conflicting Classifications
 CA10360637 rs_61753164

2 SubmittersRCV002043243RCV003453967
NM_000330.4(RS1):c.149G>A (p.Trp50Ter) SNV
Germline		 ChrX:18656688 Pathogenic Condition: not provided
Juvenile retinoschisis		 Reviewed By Expert Panel
 CA412376221 rs_2147203086

2 SubmittersRCV001954584RCV005412318
NM_000330.4(RS1):c.580A>G (p.Ile194Val) SNV
Germline		 ChrX:18642099 Likely pathogenic Condition: not provided
Juvenile retinoschisis		 Criteria Provided
Single Submitter
 CA412370391 rs_1464991419

2 SubmittersRCV002050481RCV005607073
NM_000330.4(RS1):c.461A>G (p.Gln154Arg) SNV
Germline		 ChrX:18644491 Pathogenic/Likely pathogenic Condition: not provided
Juvenile retinoschisis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412371558 rs_2147191205

4 SubmittersRCV001963104RCV003324575
NM_000330.4(RS1):c.187T>C (p.Cys63Arg) SNV
Germline		 ChrX:18647330 Conflicting classifications of pathogenicity Condition: not provided
Juvenile retinoschisis		 Criteria Provided
Conflicting Classifications
 CA412373014 rs_2147194234

2 SubmittersRCV002021381RCV003987958
NM_000330.4(RS1):c.544C>G (p.Arg182Gly) SNV
Germline		 ChrX:18642135 Likely pathogenic Condition: not provided
Juvenile retinoschisis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412370538 rs_61753171

2 SubmittersRCV002041272RCV005042693
NM_000330.4(RS1):c.488G>A (p.Trp163Ter) SNV
Germline		 ChrX:18644464 Likely pathogenic Juvenile retinoschisis Criteria Provided
Single Submitter
 CA412371375 rs_2147191142

1 SubmittersRCV002251152
NM_000330.4(RS1):c.531T>G (p.Tyr177Ter) SNV
Germline		 ChrX:18642148 Pathogenic/Likely pathogenic Juvenile retinoschisis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412370597 rs_2147189125

2 SubmittersRCV002251291RCV003560895
NM_000330.4(RS1):c.578C>A (p.Pro193His) SNV
Germline		 ChrX:18642101 Likely pathogenic Juvenile retinoschisis Criteria Provided
Single Submitter
 CA412370399 rs_281865352

1 SubmittersRCV002267648
NM_000330.4(RS1):c.184+1G>A SNV
Germline		 ChrX:18656652 Pathogenic/Likely pathogenic Juvenile retinoschisis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412375975 rs_281865343

3 SubmittersRCV002283803RCV003774936
NM_000330.4(RS1):c.103C>T (p.Gln35Ter) SNV
Germline		 ChrX:18656734 Pathogenic Juvenile retinoschisis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412376480 rs_2518937898

2 SubmittersRCV002471435RCV002573606
NM_000330.4(RS1):c.629T>G (p.Ile210Ser) SNV
Germline		 ChrX:18642050 Conflicting classifications of pathogenicity Condition: not provided
Juvenile retinoschisis		 Criteria Provided
Conflicting Classifications
 CA10360597 rs_757697856

2 SubmittersRCV003083154RCV005254705
NM_000330.4(RS1):c.185-1G>T SNV
Germline		 ChrX:18647333 Pathogenic Condition: not provided
Juvenile retinoschisis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412373021 rs_281865344

2 SubmittersRCV003318885RCV005415342
NM_000330.4(RS1):c.377A>G (p.Asp126Gly) SNV
Germline		 ChrX:18644575 Pathogenic/Likely pathogenic Juvenile retinoschisis
Retinal dystrophy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA412372168 rs_2518919972

2 SubmittersRCV003412577RCV004818339
NM_000330.4(RS1):c.184+2T>C SNV
Germline		 ChrX:18656651 Likely pathogenic Juvenile retinoschisis Criteria Provided
Multiple Submitters
No Conflicts
 CA412375966 rs_1555959367

2 SubmittersRCV003466267
NM_000330.4(RS1):c.410T>C (p.Leu137Pro) SNV
Germline		 ChrX:18644542 Conflicting classifications of pathogenicity Juvenile retinoschisis
Retinal dystrophy		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005254916RCV004817271
NM_000330.4(RS1):c.127C>T (p.Gln43Ter) SNV
Germline		 ChrX:18656710 Likely pathogenic Juvenile retinoschisis Criteria Provided
Single Submitter

1 SubmittersRCV005055236
NM_000330.4(RS1):c.365G>A (p.Trp122Ter) SNV
Germline		 ChrX:18644587 Pathogenic Juvenile retinoschisis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004699788RCV005103574
NM_000330.4(RS1):c.78+1G>T SNV
Germline		 ChrX:18657639 Pathogenic Juvenile retinoschisis Criteria Provided
Single Submitter

1 SubmittersRCV005253413
NM_000330.4(RS1):c.206T>G (p.Leu69Arg) SNV
Germline		 ChrX:18647311 Likely pathogenic Juvenile retinoschisis Criteria Provided
Single Submitter

1 SubmittersRCV005400679
NM_000330.4(RS1):c.78+5G>A SNV
Germline		 ChrX:18657635 Likely pathogenic Juvenile retinoschisis Reviewed By Expert Panel

1 SubmittersRCV005413250
NM_000330.4(RS1):c.176G>C (p.Cys59Ser) SNV
Germline		 ChrX:18656661 Pathogenic Juvenile retinoschisis Reviewed By Expert Panel

1 SubmittersRCV005413252
NC_000023.11:g.18644511C>T SNV
Germline		 ChrX:18644511 Pathogenic Juvenile retinoschisis Reviewed By Expert Panel

1 SubmittersRCV005413255
NC_000023.11:g.18642146C>G SNV
Germline		 ChrX:18642146 Likely pathogenic Juvenile retinoschisis Reviewed By Expert Panel

1 SubmittersRCV005413256
NM_000330.4(RS1):c.35T>C (p.Leu12Pro) SNV
Germline		 ChrX:18672034 Likely pathogenic Juvenile retinoschisis No Assertion Criteria Provided

1 SubmittersRCV005608043
NM_000330.4(RS1):c.32T>A (p.Leu11Ter) SNV
Germline		 ChrX:18672037 Pathogenic Juvenile retinoschisis No Assertion Criteria Provided

1 SubmittersRCV005608047