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 SubmittersRCV000010564 RCV000085262 RCV001074398
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	12 SubmittersRCV000010565 RCV000085268 RCV000210291 RCV004798720
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 SubmittersRCV000010567 RCV000085251
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 SubmittersRCV000010568 RCV000085254 RCV004814879
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 SubmittersRCV000010569 RCV000085274
NM_000330.4(RS1):c.667T>C (p.Cys223Arg)	SNV Germline	ChrX:18642012	Pathogenic	Juvenile retinoschisis Condition: not provided	Reviewed By Expert Panel	CA254929	rs_104894929	4 SubmittersRCV000010571 RCV001385707
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 SubmittersRCV000010573 RCV000085344 RCV001003214 RCV001074001
NM_000330.4(RS1):c.305G>A (p.Arg102Gln)	SNV Germline	ChrX:18647212	Pathogenic	Juvenile retinoschisis Condition: not provided Retinal dystrophy RS1-related disorder Retinal disorder	Reviewed By Expert Panel	CA226669	rs_61752068	14 SubmittersRCV000010574 RCV000085269 RCV001073575 RCV003415684 RCV006253464
NM_000330.4(RS1):c.349C>T (p.Gln117Ter)	SNV Germline	ChrX:18644603	Pathogenic	Juvenile retinoschisis Macular schisis Peripheral schisis Juvenile retinoschisis	Criteria Provided Single Submitter	CA265996	rs_199469696	2 SubmittersRCV000058876 RCV001807775
NM_000330.4(RS1):c.175T>A (p.Cys59Ser)	SNV Germline	ChrX:18656662	Pathogenic	Condition: not provided Retinal dystrophy Juvenile retinoschisis	Reviewed By Expert Panel	CA226605	rs_62645889	4 SubmittersRCV000085241 RCV004815053 RCV005862505
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 SubmittersRCV000085243 RCV001199775
NM_000330.4(RS1):c.209G>A (p.Gly70Asp)	SNV Germline	ChrX:18647308	Pathogenic/Likely pathogenic	Condition: not provided Juvenile retinoschisis	Criteria Provided Multiple Submitters No Conflicts	CA226618	rs_62645895	3 SubmittersRCV000085248 RCV001352955
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 SubmittersRCV000085250 RCV002477251 RCV004815054
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 SubmittersRCV000085261 RCV004815056 RCV005411323
NM_000330.4(RS1):c.308T>G (p.Leu103Arg)	SNV Germline	ChrX:18647209	Conflicting classifications of pathogenicity	Condition: not provided Juvenile retinoschisis	Criteria Provided Conflicting Classifications	CA226671	rs_61752069	4 SubmittersRCV000085270 RCV006276067
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 SubmittersRCV000085276 RCV005411324
NM_000330.4(RS1):c.329G>A (p.Cys110Tyr)	SNV Germline	ChrX:18644623	Pathogenic	Condition: not provided Retinoschisis Juvenile retinoschisis	Reviewed By Expert Panel	CA226686	rs_61752075	5 SubmittersRCV000085278 RCV001003219 RCV005862506
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 SubmittersRCV000085283 RCV001075784 RCV005411326
NM_000330.4(RS1):c.407T>C (p.Ile136Thr)	SNV Germline	ChrX:18644545	Pathogenic/Likely pathogenic	Condition: not provided Juvenile retinoschisis	Criteria Provided Multiple Submitters No Conflicts	CA226717	rs_61752153	3 SubmittersRCV000085294 RCV005867892
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 SubmittersRCV000085299 RCV005411329
NM_000330.4(RS1):c.421C>T (p.Arg141Cys)	SNV Germline	ChrX:18644531	Pathogenic	Condition: not provided Retinoschisis Juvenile retinoschisis Retinal dystrophy	Reviewed By Expert Panel	CA226728	rs_61752158	8 SubmittersRCV000085300 RCV001003217 RCV003467004 RCV004815061
NM_000330.4(RS1):c.422G>A (p.Arg141His)	SNV Germline	ChrX:18644530	Pathogenic	Condition: not provided Juvenile retinoschisis Retinal dystrophy	Reviewed By Expert Panel	CA226730	rs_61752159	7 SubmittersRCV000085301 RCV000411096 RCV004815062
NM_000330.4(RS1):c.52+1G>A	SNV Germline	ChrX:18672016	Pathogenic	Condition: not provided Juvenile retinoschisis	Criteria Provided Single Submitter	CA226763	rs_281865336	2 SubmittersRCV000085315 RCV006250164
NM_000330.4(RS1):c.52+2T>C	SNV Germline	ChrX:18672015	Pathogenic	Condition: not provided Juvenile retinoschisis	Criteria Provided Single Submitter	CA226766	rs_281865334	2 SubmittersRCV000085318 RCV006276068
NM_000330.4(RS1):c.522+1G>A	SNV Germline	ChrX:18644429	Pathogenic	Condition: not provided Juvenile retinoschisis Retinal dystrophy Thyroid cancer, nonmedullary, 1	Criteria Provided Multiple Submitters No Conflicts	CA226768	rs_281865348	6 SubmittersRCV000085320 RCV000411037 RCV001075780 RCV005887717
NM_000330.4(RS1):c.533G>A (p.Gly178Asp)	SNV Germline	ChrX:18642146	Pathogenic	Condition: not provided Juvenile retinoschisis	Reviewed By Expert Panel	CA226772	rs_61753169	2 SubmittersRCV000085324 RCV005862507
NM_000330.4(RS1):c.544C>T (p.Arg182Cys)	SNV Germline	ChrX:18642135	Pathogenic	Condition: not provided Juvenile retinoschisis Retinal dystrophy	Reviewed By Expert Panel	CA226778	rs_61753171	8 SubmittersRCV000085327 RCV001353044 RCV004815066
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 SubmittersRCV000085331 RCV000169568 RCV001075730
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 SubmittersRCV000085337 RCV001073323 RCV002272064
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 SubmittersRCV000085341 RCV001074817 RCV001353041
NM_000330.4(RS1):c.631G>A (p.Ala211Thr)	SNV Unknown	ChrX:18642048	Likely pathogenic	Condition: not provided Juvenile retinoschisis	Criteria Provided Single Submitter	CA226827	rs_281865363	2 SubmittersRCV000085350 RCV005632237
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	9 SubmittersRCV000085351 RCV001753489 RCV004767069 RCV004815074
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 SubmittersRCV000085352 RCV004566982 RCV004815075
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 SubmittersRCV000085356 RCV001075517 RCV005411332
NM_000330.4(RS1):c.655T>C (p.Cys219Arg)	SNV Germline	ChrX:18642024	Likely pathogenic	Condition: not provided Retinal dystrophy Juvenile retinoschisis	Reviewed By Expert Panel	CA226841	rs_281865369	6 SubmittersRCV000085357 RCV001074513 RCV005632238
NM_000330.4(RS1):c.655T>G (p.Cys219Gly)	SNV Germline	ChrX:18642024	Likely pathogenic	Condition: not provided Juvenile retinoschisis	Reviewed By Expert Panel	CA226843	rs_281865369	2 SubmittersRCV000085358 RCV005862508
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 SubmittersRCV000085362 RCV005411333
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 SubmittersRCV000085363 RCV005411334
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 SubmittersRCV000085364 RCV005411335
NM_000330.4(RS1):c.79-2A>G	SNV Germline	ChrX:18656760	Pathogenic	Condition: not provided Thyroid cancer, nonmedullary, 1 Juvenile retinoschisis	Criteria Provided Single Submitter	CA226857	rs_281865340	3 SubmittersRCV000085365 RCV005887719 RCV006250165
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 SubmittersRCV000411199 RCV001380798
NM_000330.4(RS1):c.208G>A (p.Gly70Ser)	SNV Germline	ChrX:18647309	Pathogenic	Condition: not provided Juvenile retinoschisis Retinal dystrophy RS1-related disorder Retinal disorder	Criteria Provided Multiple Submitters No Conflicts	CA16043201	rs_62645894	8 SubmittersRCV000412918 RCV000984306 RCV001074417 RCV003392227 RCV006549983
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 SubmittersRCV000413709 RCV005411421
NM_000330.4(RS1):c.452A>C (p.Tyr151Ser)	SNV Germline	ChrX:18644500	Pathogenic/Likely pathogenic	Condition: not provided Juvenile retinoschisis	Criteria Provided Multiple Submitters No Conflicts	CA412371625	rs_1131691380	3 SubmittersRCV000494534 RCV006550252
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 SubmittersRCV000578886 RCV005411494
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 SubmittersRCV000659145 RCV001199774
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 SubmittersRCV001074361 RCV005411659
NM_000330.4(RS1):c.53-1G>A	SNV Germline	ChrX:18657666	Pathogenic	Retinal dystrophy Juvenile retinoschisis	Reviewed By Expert Panel	CA412376925	rs_1928241490	3 SubmittersRCV001075307 RCV001727839
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 SubmittersRCV001283764 RCV001871647
NM_000330.4(RS1):c.409C>T (p.Leu137Phe)	SNV Germline	ChrX:18644543	Likely pathogenic	Condition: not provided Juvenile retinoschisis	Criteria Provided Multiple Submitters No Conflicts	CA412371948	rs_1927700931	2 SubmittersRCV001324033 RCV001587345
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 SubmittersRCV001377412 RCV005411733
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 SubmittersRCV001733782 RCV004798926 RCV005416544
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 SubmittersRCV002043243 RCV003453967
NM_000330.4(RS1):c.667T>G (p.Cys223Gly)	SNV Germline	ChrX:18642012	Likely pathogenic	Condition: not provided Juvenile retinoschisis	Reviewed By Expert Panel	CA412370013	rs_104894929	2 SubmittersRCV002016593 RCV005862524
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 SubmittersRCV001954584 RCV005412318
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 SubmittersRCV002050481 RCV005607073
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 SubmittersRCV001963104 RCV003324575
NM_000330.4(RS1):c.187T>C (p.Cys63Arg)	SNV Germline	ChrX:18647330	Pathogenic/Likely pathogenic	Condition: not provided Juvenile retinoschisis	Criteria Provided Multiple Submitters No Conflicts	CA412373014	rs_2147194234	2 SubmittersRCV002021381 RCV003987958
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 SubmittersRCV002041272 RCV005042693
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 Thyroid cancer, nonmedullary, 1	Criteria Provided Multiple Submitters No Conflicts	CA412370597	rs_2147189125	3 SubmittersRCV002251291 RCV003560895 RCV005930077
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.656G>A (p.Cys219Tyr)	SNV Germline	ChrX:18642023	Likely pathogenic	Condition: not provided Juvenile retinoschisis	Reviewed By Expert Panel	CA412370061	rs_2147188856	3 SubmittersRCV002275736 RCV005862527
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 SubmittersRCV002283803 RCV003774936
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 SubmittersRCV002471435 RCV002573606
NM_000330.4(RS1):c.175T>G (p.Cys59Gly)	SNV Germline	ChrX:18656662	Pathogenic	Condition: not provided Juvenile retinoschisis	Reviewed By Expert Panel	CA412376057	rs_62645889	2 SubmittersRCV003087407 RCV005862543
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 SubmittersRCV003083154 RCV005254705
NM_000330.4(RS1):c.188G>T (p.Cys63Phe)	SNV Germline	ChrX:18647329	Pathogenic/Likely pathogenic	Condition: not provided Juvenile retinoschisis	Criteria Provided Multiple Submitters No Conflicts	CA412373011	rs_760405772	2 SubmittersRCV003027346 RCV006262596
NM_000330.4(RS1):c.185-1G>T	SNV Germline	ChrX:18647333	Pathogenic	Condition: not provided Juvenile retinoschisis Thyroid cancer, nonmedullary, 1	Criteria Provided Multiple Submitters No Conflicts	CA412373021	rs_281865344	3 SubmittersRCV003318885 RCV005415342 RCV005931072
NM_000330.4(RS1):c.377A>G (p.Asp126Gly)	SNV Germline	ChrX:18644575	Pathogenic/Likely pathogenic	Juvenile retinoschisis Condition: not provided Retinal dystrophy	Criteria Provided Multiple Submitters No Conflicts	CA412372168	rs_2518919972	3 SubmittersRCV003412577 RCV006473131 RCV004818339
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.505C>T (p.Gln169Ter)	SNV Germline	ChrX:18644447	Pathogenic/Likely pathogenic	Condition: not provided Juvenile retinoschisis	Criteria Provided Multiple Submitters No Conflicts	CA412371271	rs_2518919549	2 SubmittersRCV003843079 RCV006276100
NM_000330.4(RS1):c.206T>C (p.Leu69Pro)	SNV Germline	ChrX:18647311	Pathogenic/Likely pathogenic	Retinal dystrophy Juvenile retinoschisis	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV004816220 RCV005871521
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 SubmittersRCV005254916 RCV004817271
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 SubmittersRCV004699788 RCV005103574
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.32T>A (p.Leu11Ter)	SNV Germline	ChrX:18672037	Pathogenic	Juvenile retinoschisis	No Assertion Criteria Provided			1 SubmittersRCV005608047
NM_000330.4(RS1):c.422G>C (p.Arg141Pro)	SNV Germline	ChrX:18644530	Likely pathogenic	Juvenile retinoschisis	Reviewed By Expert Panel			1 SubmittersRCV005862617
NM_000330.4(RS1):c.422G>T (p.Arg141Leu)	SNV Germline	ChrX:18644530	Likely pathogenic	Juvenile retinoschisis	Reviewed By Expert Panel			1 SubmittersRCV005862618
NM_000330.4(RS1):c.421C>A (p.Arg141Ser)	SNV Germline	ChrX:18644531	Likely pathogenic	Juvenile retinoschisis	Reviewed By Expert Panel			1 SubmittersRCV005862619
NM_000330.4(RS1):c.61G>T (p.Gly21Ter)	SNV Germline	ChrX:18657657	Pathogenic	Juvenile retinoschisis Thyroid cancer, nonmedullary, 1	Reviewed By Expert Panel			2 SubmittersRCV005862620 RCV005938180
NM_000330.4(RS1):c.533G>T (p.Gly178Val)	SNV Germline	ChrX:18642146	Likely pathogenic	Juvenile retinoschisis	Reviewed By Expert Panel			1 SubmittersRCV005862623
NM_000330.4(RS1):c.581T>A (p.Ile194Asn)	SNV Germline	ChrX:18642098	Pathogenic	Juvenile retinoschisis	Reviewed By Expert Panel			1 SubmittersRCV005862630
NM_000330.4(RS1):c.176G>T (p.Cys59Phe)	SNV Germline	ChrX:18656661	Likely pathogenic	Juvenile retinoschisis	Reviewed By Expert Panel			1 SubmittersRCV005862631
NM_000330.4(RS1):c.177T>G (p.Cys59Trp)	SNV Germline	ChrX:18656660	Likely pathogenic	Juvenile retinoschisis	Reviewed By Expert Panel			1 SubmittersRCV005862632
NM_000330.4(RS1):c.175T>C (p.Cys59Arg)	SNV Germline	ChrX:18656662	Likely pathogenic	Juvenile retinoschisis	Reviewed By Expert Panel			1 SubmittersRCV005862633
NM_000330.4(RS1):c.668G>T (p.Cys223Phe)	SNV Germline	ChrX:18642011	Likely pathogenic	Juvenile retinoschisis	Reviewed By Expert Panel			1 SubmittersRCV005862634
NM_000330.4(RS1):c.668G>C (p.Cys223Ser)	SNV Germline	ChrX:18642011	Likely pathogenic	Juvenile retinoschisis	Reviewed By Expert Panel			1 SubmittersRCV005862635
NM_000330.4(RS1):c.667T>A (p.Cys223Ser)	SNV Germline	ChrX:18642012	Likely pathogenic	Juvenile retinoschisis	Reviewed By Expert Panel			1 SubmittersRCV005862636
NM_000330.4(RS1):c.669T>G (p.Cys223Trp)	SNV Germline	ChrX:18642010	Likely pathogenic	Juvenile retinoschisis	Reviewed By Expert Panel			1 SubmittersRCV005862637
NM_000330.4(RS1):c.218C>T (p.Ser73Leu)	SNV Germline	ChrX:18647299	Likely pathogenic	Juvenile retinoschisis	Criteria Provided Single Submitter			1 SubmittersRCV005882488
NM_000330.4(RS1):c.78G>C (p.Glu26Asp)	SNV Germline	ChrX:18657640	Likely pathogenic	Juvenile retinoschisis	Criteria Provided Single Submitter			1 SubmittersRCV006250211
NM_000330.4(RS1):c.638G>C (p.Arg213Pro)	SNV Germline	ChrX:18642041	Likely pathogenic	Juvenile retinoschisis	Criteria Provided Single Submitter			1 SubmittersRCV006255110
NM_000330.4(RS1):c.537C>G (p.Asn179Lys)	SNV Germline	ChrX:18642142	Likely pathogenic	Juvenile retinoschisis	Criteria Provided Single Submitter			1 SubmittersRCV006436635

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 SubmittersRCV000010564 RCV000085262 RCV001074398

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

12 SubmittersRCV000010565 RCV000085268 RCV000210291 RCV004798720

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 SubmittersRCV000010567 RCV000085251

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 SubmittersRCV000010568 RCV000085254 RCV004814879

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 SubmittersRCV000010569 RCV000085274

NM_000330.4(RS1):c.667T>C (p.Cys223Arg)

SNV
Germline

ChrX:18642012

Pathogenic

Juvenile retinoschisis
Condition: not provided

Reviewed By Expert Panel

CA254929

rs_104894929

4 SubmittersRCV000010571 RCV001385707

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 SubmittersRCV000010573 RCV000085344 RCV001003214 RCV001074001

NM_000330.4(RS1):c.305G>A (p.Arg102Gln)

SNV
Germline

ChrX:18647212

Pathogenic

Juvenile retinoschisis
Condition: not provided
Retinal dystrophy
RS1-related disorder
Retinal disorder

Reviewed By Expert Panel

CA226669

rs_61752068

14 SubmittersRCV000010574 RCV000085269 RCV001073575 RCV003415684 RCV006253464

NM_000330.4(RS1):c.349C>T (p.Gln117Ter)

SNV
Germline

ChrX:18644603

Pathogenic

Juvenile retinoschisis
Macular schisis
Peripheral schisis
Juvenile retinoschisis

Criteria Provided
Single Submitter

CA265996

rs_199469696

2 SubmittersRCV000058876 RCV001807775

NM_000330.4(RS1):c.175T>A (p.Cys59Ser)

SNV
Germline

ChrX:18656662

Pathogenic

Condition: not provided
Retinal dystrophy
Juvenile retinoschisis

Reviewed By Expert Panel

CA226605

rs_62645889

4 SubmittersRCV000085241 RCV004815053 RCV005862505

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 SubmittersRCV000085243 RCV001199775

NM_000330.4(RS1):c.209G>A (p.Gly70Asp)

SNV
Germline

ChrX:18647308

Pathogenic/Likely pathogenic

Condition: not provided
Juvenile retinoschisis

Criteria Provided
Multiple Submitters
No Conflicts

CA226618

rs_62645895

3 SubmittersRCV000085248 RCV001352955

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 SubmittersRCV000085250 RCV002477251 RCV004815054

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 SubmittersRCV000085261 RCV004815056 RCV005411323

NM_000330.4(RS1):c.308T>G (p.Leu103Arg)

SNV
Germline

ChrX:18647209

Conflicting classifications of pathogenicity

Condition: not provided
Juvenile retinoschisis

Criteria Provided
Conflicting Classifications

CA226671

rs_61752069

4 SubmittersRCV000085270 RCV006276067

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 SubmittersRCV000085276 RCV005411324

NM_000330.4(RS1):c.329G>A (p.Cys110Tyr)

SNV
Germline

ChrX:18644623

Pathogenic

Condition: not provided
Retinoschisis
Juvenile retinoschisis

Reviewed By Expert Panel

CA226686

rs_61752075

5 SubmittersRCV000085278 RCV001003219 RCV005862506

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 SubmittersRCV000085283 RCV001075784 RCV005411326

NM_000330.4(RS1):c.407T>C (p.Ile136Thr)

SNV
Germline

ChrX:18644545

Pathogenic/Likely pathogenic

Condition: not provided
Juvenile retinoschisis

Criteria Provided
Multiple Submitters
No Conflicts

CA226717

rs_61752153

3 SubmittersRCV000085294 RCV005867892

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 SubmittersRCV000085299 RCV005411329

NM_000330.4(RS1):c.421C>T (p.Arg141Cys)

SNV
Germline

ChrX:18644531

Pathogenic

Condition: not provided
Retinoschisis
Juvenile retinoschisis
Retinal dystrophy

Reviewed By Expert Panel

CA226728

rs_61752158

8 SubmittersRCV000085300 RCV001003217 RCV003467004 RCV004815061

NM_000330.4(RS1):c.422G>A (p.Arg141His)

SNV
Germline

ChrX:18644530

Pathogenic

Condition: not provided
Juvenile retinoschisis
Retinal dystrophy

Reviewed By Expert Panel

CA226730

rs_61752159

7 SubmittersRCV000085301 RCV000411096 RCV004815062

NM_000330.4(RS1):c.52+1G>A

SNV
Germline

ChrX:18672016

Pathogenic

Condition: not provided
Juvenile retinoschisis

Criteria Provided
Single Submitter

CA226763

rs_281865336

2 SubmittersRCV000085315 RCV006250164

NM_000330.4(RS1):c.52+2T>C

SNV
Germline

ChrX:18672015

Pathogenic

Condition: not provided
Juvenile retinoschisis

Criteria Provided
Single Submitter

CA226766

rs_281865334

2 SubmittersRCV000085318 RCV006276068

NM_000330.4(RS1):c.522+1G>A

SNV
Germline

ChrX:18644429

Pathogenic

Condition: not provided
Juvenile retinoschisis
Retinal dystrophy
Thyroid cancer, nonmedullary, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA226768

rs_281865348

6 SubmittersRCV000085320 RCV000411037 RCV001075780 RCV005887717

NM_000330.4(RS1):c.533G>A (p.Gly178Asp)

SNV
Germline

ChrX:18642146

Pathogenic

Condition: not provided
Juvenile retinoschisis

Reviewed By Expert Panel

CA226772

rs_61753169

2 SubmittersRCV000085324 RCV005862507

NM_000330.4(RS1):c.544C>T (p.Arg182Cys)

SNV
Germline

ChrX:18642135

Pathogenic

Condition: not provided
Juvenile retinoschisis
Retinal dystrophy

Reviewed By Expert Panel

CA226778

rs_61753171

8 SubmittersRCV000085327 RCV001353044 RCV004815066

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 SubmittersRCV000085331 RCV000169568 RCV001075730

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 SubmittersRCV000085337 RCV001073323 RCV002272064

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 SubmittersRCV000085341 RCV001074817 RCV001353041

NM_000330.4(RS1):c.631G>A (p.Ala211Thr)

SNV
Unknown

ChrX:18642048

Likely pathogenic

Condition: not provided
Juvenile retinoschisis

Criteria Provided
Single Submitter

CA226827

rs_281865363

2 SubmittersRCV000085350 RCV005632237

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

9 SubmittersRCV000085351 RCV001753489 RCV004767069 RCV004815074

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 SubmittersRCV000085352 RCV004566982 RCV004815075

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 SubmittersRCV000085356 RCV001075517 RCV005411332

NM_000330.4(RS1):c.655T>C (p.Cys219Arg)

SNV
Germline

ChrX:18642024

Likely pathogenic

Condition: not provided
Retinal dystrophy
Juvenile retinoschisis

Reviewed By Expert Panel

CA226841

rs_281865369

6 SubmittersRCV000085357 RCV001074513 RCV005632238

NM_000330.4(RS1):c.655T>G (p.Cys219Gly)

SNV
Germline

ChrX:18642024

Likely pathogenic

Condition: not provided
Juvenile retinoschisis

Reviewed By Expert Panel

CA226843

rs_281865369

2 SubmittersRCV000085358 RCV005862508

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 SubmittersRCV000085362 RCV005411333

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 SubmittersRCV000085363 RCV005411334

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 SubmittersRCV000085364 RCV005411335

NM_000330.4(RS1):c.79-2A>G

SNV
Germline

ChrX:18656760

Pathogenic

Condition: not provided
Thyroid cancer, nonmedullary, 1
Juvenile retinoschisis

Criteria Provided
Single Submitter

CA226857

rs_281865340

3 SubmittersRCV000085365 RCV005887719 RCV006250165

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 SubmittersRCV000411199 RCV001380798

NM_000330.4(RS1):c.208G>A (p.Gly70Ser)

SNV
Germline

ChrX:18647309

Pathogenic

Condition: not provided
Juvenile retinoschisis
Retinal dystrophy
RS1-related disorder
Retinal disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA16043201

rs_62645894

8 SubmittersRCV000412918 RCV000984306 RCV001074417 RCV003392227 RCV006549983

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 SubmittersRCV000413709 RCV005411421

NM_000330.4(RS1):c.452A>C (p.Tyr151Ser)

SNV
Germline

ChrX:18644500

Pathogenic/Likely pathogenic

Condition: not provided
Juvenile retinoschisis

Criteria Provided
Multiple Submitters
No Conflicts

CA412371625

rs_1131691380

3 SubmittersRCV000494534 RCV006550252

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 SubmittersRCV000578886 RCV005411494

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 SubmittersRCV000659145 RCV001199774

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 SubmittersRCV001074361 RCV005411659

NM_000330.4(RS1):c.53-1G>A

SNV
Germline

ChrX:18657666

Pathogenic

Retinal dystrophy
Juvenile retinoschisis

Reviewed By Expert Panel

CA412376925

rs_1928241490

3 SubmittersRCV001075307 RCV001727839

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 SubmittersRCV001283764 RCV001871647

NM_000330.4(RS1):c.409C>T (p.Leu137Phe)

SNV
Germline

ChrX:18644543

Likely pathogenic

Condition: not provided
Juvenile retinoschisis

Criteria Provided
Multiple Submitters
No Conflicts

CA412371948

rs_1927700931

2 SubmittersRCV001324033 RCV001587345

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 SubmittersRCV001377412 RCV005411733

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 SubmittersRCV001733782 RCV004798926 RCV005416544

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 SubmittersRCV002043243 RCV003453967

NM_000330.4(RS1):c.667T>G (p.Cys223Gly)

SNV
Germline

ChrX:18642012

Likely pathogenic

Condition: not provided
Juvenile retinoschisis

Reviewed By Expert Panel

CA412370013

rs_104894929

2 SubmittersRCV002016593 RCV005862524

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 SubmittersRCV001954584 RCV005412318

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 SubmittersRCV002050481 RCV005607073

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 SubmittersRCV001963104 RCV003324575

NM_000330.4(RS1):c.187T>C (p.Cys63Arg)

SNV
Germline

ChrX:18647330

Pathogenic/Likely pathogenic

Condition: not provided
Juvenile retinoschisis

Criteria Provided
Multiple Submitters
No Conflicts

CA412373014

rs_2147194234

2 SubmittersRCV002021381 RCV003987958

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 SubmittersRCV002041272 RCV005042693

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
Thyroid cancer, nonmedullary, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA412370597

rs_2147189125

3 SubmittersRCV002251291 RCV003560895 RCV005930077

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.656G>A (p.Cys219Tyr)

SNV
Germline

ChrX:18642023

Likely pathogenic

Condition: not provided
Juvenile retinoschisis

Reviewed By Expert Panel

CA412370061

rs_2147188856

3 SubmittersRCV002275736 RCV005862527

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 SubmittersRCV002283803 RCV003774936

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 SubmittersRCV002471435 RCV002573606

NM_000330.4(RS1):c.175T>G (p.Cys59Gly)

SNV
Germline

ChrX:18656662

Pathogenic

Condition: not provided
Juvenile retinoschisis

Reviewed By Expert Panel

CA412376057

rs_62645889

2 SubmittersRCV003087407 RCV005862543

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 SubmittersRCV003083154 RCV005254705

NM_000330.4(RS1):c.188G>T (p.Cys63Phe)

SNV
Germline

ChrX:18647329

Pathogenic/Likely pathogenic

Condition: not provided
Juvenile retinoschisis

Criteria Provided
Multiple Submitters
No Conflicts

CA412373011

rs_760405772

2 SubmittersRCV003027346 RCV006262596

NM_000330.4(RS1):c.185-1G>T

SNV
Germline

ChrX:18647333

Pathogenic

Condition: not provided
Juvenile retinoschisis
Thyroid cancer, nonmedullary, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA412373021

rs_281865344

3 SubmittersRCV003318885 RCV005415342 RCV005931072

NM_000330.4(RS1):c.377A>G (p.Asp126Gly)

SNV
Germline

ChrX:18644575

Pathogenic/Likely pathogenic

Juvenile retinoschisis
Condition: not provided
Retinal dystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412372168

rs_2518919972

3 SubmittersRCV003412577 RCV006473131 RCV004818339

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.505C>T (p.Gln169Ter)

SNV
Germline

ChrX:18644447

Pathogenic/Likely pathogenic

Condition: not provided
Juvenile retinoschisis

Criteria Provided
Multiple Submitters
No Conflicts

CA412371271

rs_2518919549

2 SubmittersRCV003843079 RCV006276100

NM_000330.4(RS1):c.206T>C (p.Leu69Pro)

SNV
Germline

ChrX:18647311

Pathogenic/Likely pathogenic

Retinal dystrophy
Juvenile retinoschisis

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004816220 RCV005871521

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 SubmittersRCV005254916 RCV004817271

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 SubmittersRCV004699788 RCV005103574

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.32T>A (p.Leu11Ter)

SNV
Germline

ChrX:18672037

Pathogenic

Juvenile retinoschisis

No Assertion Criteria Provided

1 SubmittersRCV005608047

NM_000330.4(RS1):c.422G>C (p.Arg141Pro)

SNV
Germline

ChrX:18644530

Likely pathogenic

Juvenile retinoschisis

Reviewed By Expert Panel

1 SubmittersRCV005862617

NM_000330.4(RS1):c.422G>T (p.Arg141Leu)

SNV
Germline

ChrX:18644530

Likely pathogenic

Juvenile retinoschisis

Reviewed By Expert Panel

1 SubmittersRCV005862618

NM_000330.4(RS1):c.421C>A (p.Arg141Ser)

SNV
Germline

ChrX:18644531

Likely pathogenic

Juvenile retinoschisis

Reviewed By Expert Panel

1 SubmittersRCV005862619

NM_000330.4(RS1):c.61G>T (p.Gly21Ter)

SNV
Germline

ChrX:18657657

Pathogenic

Juvenile retinoschisis
Thyroid cancer, nonmedullary, 1

Reviewed By Expert Panel

2 SubmittersRCV005862620 RCV005938180

NM_000330.4(RS1):c.533G>T (p.Gly178Val)

SNV
Germline

ChrX:18642146

Likely pathogenic

Juvenile retinoschisis

Reviewed By Expert Panel

1 SubmittersRCV005862623

NM_000330.4(RS1):c.581T>A (p.Ile194Asn)

SNV
Germline

ChrX:18642098

Pathogenic

Juvenile retinoschisis

Reviewed By Expert Panel

1 SubmittersRCV005862630

NM_000330.4(RS1):c.176G>T (p.Cys59Phe)

SNV
Germline

ChrX:18656661

Likely pathogenic

Juvenile retinoschisis

Reviewed By Expert Panel

1 SubmittersRCV005862631

NM_000330.4(RS1):c.177T>G (p.Cys59Trp)

SNV
Germline

ChrX:18656660

Likely pathogenic

Juvenile retinoschisis

Reviewed By Expert Panel

1 SubmittersRCV005862632

NM_000330.4(RS1):c.175T>C (p.Cys59Arg)

SNV
Germline

ChrX:18656662

Likely pathogenic

Juvenile retinoschisis

Reviewed By Expert Panel

1 SubmittersRCV005862633

NM_000330.4(RS1):c.668G>T (p.Cys223Phe)

SNV
Germline

ChrX:18642011

Likely pathogenic

Juvenile retinoschisis

Reviewed By Expert Panel

1 SubmittersRCV005862634

NM_000330.4(RS1):c.668G>C (p.Cys223Ser)

SNV
Germline

ChrX:18642011

Likely pathogenic

Juvenile retinoschisis

Reviewed By Expert Panel

1 SubmittersRCV005862635

NM_000330.4(RS1):c.667T>A (p.Cys223Ser)

SNV
Germline

ChrX:18642012

Likely pathogenic

Juvenile retinoschisis

Reviewed By Expert Panel

1 SubmittersRCV005862636

NM_000330.4(RS1):c.669T>G (p.Cys223Trp)

SNV
Germline

ChrX:18642010

Likely pathogenic

Juvenile retinoschisis

Reviewed By Expert Panel

1 SubmittersRCV005862637

NM_000330.4(RS1):c.218C>T (p.Ser73Leu)

SNV
Germline

ChrX:18647299

Likely pathogenic

Juvenile retinoschisis

Criteria Provided
Single Submitter

1 SubmittersRCV005882488

NM_000330.4(RS1):c.78G>C (p.Glu26Asp)

SNV
Germline

ChrX:18657640

Likely pathogenic

Juvenile retinoschisis

Criteria Provided
Single Submitter

1 SubmittersRCV006250211

NM_000330.4(RS1):c.638G>C (p.Arg213Pro)

SNV
Germline

ChrX:18642041

Likely pathogenic

Juvenile retinoschisis

Criteria Provided
Single Submitter

1 SubmittersRCV006255110

NM_000330.4(RS1):c.537C>G (p.Asn179Lys)

SNV
Germline

ChrX:18642142

Likely pathogenic

Juvenile retinoschisis

Criteria Provided
Single Submitter

1 SubmittersRCV006436635