Total 53 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

8 SubmittersRCV000010564RCV000085262RCV001074398
NM_000330.4(RS1):c.304C>T (p.Arg102Trp) SNV
Germline		 ChrX:18647213 Pathogenic/Likely pathogenic Juvenile retinoschisis
Condition: not provided
Retinal dystrophy
Retinoschisis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA226667 rs_61752067

10 SubmittersRCV000010565RCV000085268RCV000210291RCV004798720
NM_000330.4(RS1):c.216G>C (p.Glu72Asp) SNV
Germline		 ChrX:18647301 Pathogenic Juvenile retinoschisis
Condition: not provided		 No Assertion Criteria Provided
 CA226626 rs_104894932

2 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
Single Submitter
 CA254929 rs_104894929

2 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 Peripheral schisis
Macular 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 Juvenile retinoschisis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA226608 rs_281865344

3 SubmittersRCV001199775RCV000085243
NM_000330.4(RS1):c.209G>A (p.Gly70Asp) SNV
Unknown		 ChrX:18647308 Likely pathogenic Juvenile retinoschisis
Condition: not provided		 Criteria Provided
Single Submitter
 CA226618 rs_62645895

2 SubmittersRCV001352955RCV000085248
NM_000330.4(RS1):c.214G>C (p.Glu72Gln) SNV
Germline		 ChrX:18647303 Pathogenic/Likely pathogenic Juvenile retinoschisis
Retinal dystrophy
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA226623 rs_104894928

5 SubmittersRCV002477251RCV004815054RCV000085250
NM_000330.4(RS1):c.421C>T (p.Arg141Cys) SNV
Germline		 ChrX:18644531 Pathogenic Retinoschisis
Juvenile retinoschisis
Retinal dystrophy
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA226728 rs_61752158

7 SubmittersRCV001003217RCV003467004RCV004815061RCV000085300
NM_000330.4(RS1):c.422G>A (p.Arg141His) SNV
Germline		 ChrX:18644530 Pathogenic/Likely pathogenic Juvenile retinoschisis
Retinal dystrophy
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA226730 rs_61752159

6 SubmittersRCV000411096RCV004815062RCV000085301
NM_000330.4(RS1):c.522+1G>A SNV
Germline		 ChrX:18644429 Pathogenic/Likely pathogenic Juvenile retinoschisis
Retinal dystrophy
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA226768 rs_281865348

5 SubmittersRCV000411037RCV001075780RCV000085320
NM_000330.4(RS1):c.544C>T (p.Arg182Cys) SNV
Germline		 ChrX:18642135 Pathogenic/Likely pathogenic Juvenile retinoschisis
Retinal dystrophy
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA226778 rs_61753171

5 SubmittersRCV001353044RCV004815066RCV000085327
NM_000330.4(RS1):c.574C>T (p.Pro192Ser) SNV
Germline		 ChrX:18642105 Pathogenic Retinal dystrophy
Condition: not provided
Juvenile retinoschisis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA226787 rs_61753174

8 SubmittersRCV001075730RCV000085331RCV000169568
NM_000330.4(RS1):c.589C>T (p.Arg197Cys) SNV
Germline		 ChrX:18642090 Pathogenic Retinal dystrophy
Juvenile retinoschisis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA226797 rs_281865354

6 SubmittersRCV001073323RCV002272064RCV000085337
NM_000330.4(RS1):c.598C>T (p.Arg200Cys) SNV
Germline		 ChrX:18642081 Pathogenic/Likely pathogenic Retinal dystrophy
Juvenile retinoschisis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA226806 rs_281865357

8 SubmittersRCV001074817RCV001353041RCV000085341
NM_000330.4(RS1):c.637C>T (p.Arg213Trp) SNV
Germline		 ChrX:18642042 Pathogenic Juvenile retinoschisis
Developmental and epileptic encephalopathy, 2
Retinal dystrophy
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA226830 rs_281865365

8 SubmittersRCV001753489RCV004767069RCV004815074RCV000085351
NM_000330.4(RS1):c.638G>A (p.Arg213Gln) SNV
Germline		 ChrX:18642041 Pathogenic Juvenile retinoschisis
Retinal dystrophy
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA226832 rs_281865364

4 SubmittersRCV004566982RCV004815075RCV000085352
NM_000330.4(RS1):c.673T>C (p.Ter225Arg) SNV
Unknown		 ChrX:18642006 Likely pathogenic Juvenile retinoschisis Criteria Provided
Single Submitter
 CA16042048 rs_1057517433

1 SubmittersRCV000409978
NM_000330.4(RS1):c.498C>A (p.Tyr166Ter) SNV
Germline		 ChrX:18644454 Pathogenic/Likely pathogenic Juvenile retinoschisis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16042049 rs_1057516744

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

7 SubmittersRCV000412918RCV000984306RCV001074417RCV003392227
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
 rs_61752147

2 SubmittersRCV000659145RCV001199774
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
 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
 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
 rs_1927700931

2 SubmittersRCV001324033RCV001587345
NM_000330.4(RS1):c.150G>A (p.Trp50Ter) SNV
Unknown		 ChrX:18656687 Likely pathogenic Juvenile retinoschisis Criteria Provided
Single Submitter
 rs_200866925

1 SubmittersRCV001353045
NM_000330.4(RS1):c.52+3A>G SNV
Germline		 ChrX:18672014 Likely pathogenic Juvenile retinoschisis
Retinoschisis		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2147209764

2 SubmittersRCV001733782RCV004798926
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
 rs_61753164

2 SubmittersRCV002043243RCV003453967
NM_000330.4(RS1):c.461A>G (p.Gln154Arg) SNV
Germline		 ChrX:18644491 Pathogenic Condition: not provided
Juvenile retinoschisis		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2147191205

3 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
 rs_2147194234

2 SubmittersRCV002021381RCV003987958
NM_000330.4(RS1):c.488G>A (p.Trp163Ter) SNV
Germline		 ChrX:18644464 Likely pathogenic Juvenile retinoschisis Criteria Provided
Single Submitter
 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
 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
 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

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

2 SubmittersRCV002471435RCV002573606
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

2 SubmittersRCV003412577RCV004818339
NM_000330.4(RS1):c.184+2T>C SNV
Unknown		 ChrX:18656651 Likely pathogenic Juvenile retinoschisis Criteria Provided
Single Submitter

1 SubmittersRCV003466267
NM_000330.4(RS1):c.365G>A (p.Trp122Ter) SNV
Germline		 ChrX:18644587 Pathogenic Juvenile retinoschisis Criteria Provided
Single Submitter

1 SubmittersRCV004699788