Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000276.4(OCRL):c.2530C>T (p.Arg844Ter)	SNV Germline	ChrX:129589905	Pathogenic	Lowe syndrome Condition: not provided Dent disease type 2 Lowe syndrome	Criteria Provided Multiple Submitters No Conflicts	CA255580	rs_387906484	6 SubmittersRCV000011604 RCV001588808 RCV002496327
NM_000276.4(OCRL):c.1499G>A (p.Arg500Gln)	SNV Germline	ChrX:129569296	Pathogenic	Lowe syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA255583	rs_137853260	5 SubmittersRCV000011605 RCV000724256
NM_000276.4(OCRL):c.1572C>G (p.His524Gln)	SNV Germline	ChrX:129569369	Pathogenic	Lowe syndrome	No Assertion Criteria Provided	CA255585	rs_137853261	2 SubmittersRCV000011606
NM_000276.4(OCRL):c.952C>T (p.Arg318Cys)	SNV Germline	ChrX:129562396	Pathogenic/Likely pathogenic	Dent disease type 2 Lowe syndrome Condition: not provided OCRL-related disorder Lowe syndrome Dent disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA266168	rs_137853263	7 SubmittersRCV000011608 RCV000059607 RCV000727111 RCV004752699 RCV006249554
NM_000276.4(OCRL):c.1009C>T (p.Arg337Cys)	SNV Germline	ChrX:129562453	Conflicting classifications of pathogenicity	Lowe syndrome not specified	Criteria Provided Conflicting Classifications	CA266138	rs_137853831	4 SubmittersRCV000059576 RCV003488373
NM_000276.4(OCRL):c.1477C>T (p.Arg493Trp)	SNV Germline	ChrX:129569274	Pathogenic	Dent disease type 2 Lowe syndrome	Criteria Provided Multiple Submitters No Conflicts	CA345320	rs_137853846	5 SubmittersRCV000059593 RCV006461407
NM_000276.4(OCRL):c.1571A>G (p.His524Arg)	SNV Germline	ChrX:129569368	Likely pathogenic	Lowe syndrome	Criteria Provided Single Submitter	CA266161	rs_137853852	2 SubmittersRCV000059600
NM_000276.4(OCRL):c.1577C>T (p.Pro526Leu)	SNV Germline	ChrX:129569374	Pathogenic	Lowe syndrome	Criteria Provided Single Submitter	CA266162	rs_137853858	2 SubmittersRCV000059601
NM_000276.4(OCRL):c.821T>C (p.Ile274Thr)	SNV Germline	ChrX:129560648	Likely pathogenic	Lowe syndrome Dent disease type 2 Lowe syndrome	Criteria Provided Single Submitter	CA266166	rs_137853829	2 SubmittersRCV000059605 RCV005042183
NM_000276.4(OCRL):c.439+3A>G	SNV Germline	ChrX:129557953	Conflicting classifications of pathogenicity	Developmental cataract not specified Lowe syndrome Condition: not provided Lowe syndrome Dent disease type 2 Nephrolithiasis/nephrocalcinosis Genetic developmental and epileptic encephalopathy Epilepsy	Criteria Provided Conflicting Classifications	CA208426	rs_61752971	16 SubmittersRCV000203379 RCV000194322 RCV000990943 RCV001729379 RCV002490676 RCV004019526 RCV005625269 RCV005625268
NM_000276.4(OCRL):c.39+10G>A	SNV Germline	ChrX:129540488	Conflicting classifications of pathogenicity	Condition: not provided Lowe syndrome not specified OCRL-related disorder	Criteria Provided Conflicting Classifications	CA238577	rs_765141317	4 SubmittersRCV000173095 RCV002054037 RCV003150965 RCV003947458
NM_000276.4(OCRL):c.1714-1G>A	SNV Germline	ChrX:129575896	Pathogenic	Condition: not provided Lowe syndrome	Criteria Provided Multiple Submitters No Conflicts	CA275039	rs_794727182	2 SubmittersRCV000175133 RCV001380038
NM_000276.4(OCRL):c.2299C>T (p.Gln767Ter)	SNV Germline	ChrX:129588221	Pathogenic	Condition: not provided Lowe syndrome	Criteria Provided Multiple Submitters No Conflicts	CA275100	rs_794727333	2 SubmittersRCV000176152 RCV001852169
NM_000276.4(OCRL):c.40-5C>T	SNV Germline	ChrX:129540739	Conflicting classifications of pathogenicity	not specified Lowe syndrome Condition: not provided Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA209906	rs_201211377	7 SubmittersRCV000195233 RCV000714602 RCV001701636 RCV004020329
NM_000276.4(OCRL):c.471T>G (p.Ser157=)	SNV Germline	ChrX:129558664	Conflicting classifications of pathogenicity	not specified Lowe syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA205435	rs_747396791	3 SubmittersRCV000192545 RCV002057005 RCV003436997
NM_000276.4(OCRL):c.954C>T (p.Arg318=)	SNV Germline	ChrX:129562398	Conflicting classifications of pathogenicity	not specified Lowe syndrome Nephrolithiasis/nephrocalcinosis Condition: not provided	Criteria Provided Conflicting Classifications	CA206830	rs_149646700	4 SubmittersRCV000193379 RCV002057006 RCV004020330 RCV006263740
NM_000276.4(OCRL):c.1576C>T (p.Pro526Ser)	SNV Germline	ChrX:129569373	Pathogenic	Condition: not provided Lowe syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10588739	rs_886039518	2 SubmittersRCV000256005 RCV001855009
NM_000276.4(OCRL):c.940-11G>A	SNV Germline	ChrX:129562373	Pathogenic/Likely pathogenic	Condition: not provided Lowe syndrome Dent disease type 2 Dent disease type 2 Neurodevelopmental delay Lowe syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10603588	rs_776743373	6 SubmittersRCV000338582 RCV000590981 RCV001335218 RCV002274006 RCV001855052
NM_000276.4(OCRL):c.471T>A (p.Ser157=)	SNV Germline	ChrX:129558664	Conflicting classifications of pathogenicity	Condition: not provided Lowe syndrome	Criteria Provided Conflicting Classifications	CA10512038	rs_747396791	2 SubmittersRCV000332788 RCV002518983
NM_000276.4(OCRL):c.239-4023A>G	SNV Germline	ChrX:129553302	Pathogenic	Lowe syndrome	Criteria Provided Single Submitter	CA16040625	rs_1057515577	1 SubmittersRCV000408904
NM_000276.4(OCRL):c.2695G>A (p.Glu899Lys)	SNV Germline	ChrX:129590259	Conflicting classifications of pathogenicity	Condition: not provided Lowe syndrome	Criteria Provided Conflicting Classifications	CA10512417	rs_749551841	2 SubmittersRCV000445063 RCV003509530
NM_000276.4(OCRL):c.50G>C (p.Gly17Ala)	SNV Germline	ChrX:129540754	Conflicting classifications of pathogenicity	not specified Lowe syndrome Condition: not provided Nephrolithiasis/nephrocalcinosis OCRL-related disorder	Criteria Provided Conflicting Classifications	CA10511918	rs_768913997	5 SubmittersRCV000502299 RCV002056860 RCV003992307 RCV004023389 RCV004752922
NM_000276.4(OCRL):c.1000C>T (p.Arg334Ter)	SNV Germline	ChrX:129562444	Pathogenic	Lowe syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA414552583	rs_1556346316	3 SubmittersRCV000591698 RCV000727227
NM_000276.4(OCRL):c.1621C>T (p.Arg541Ter)	SNV Germline	ChrX:129575158	Pathogenic	Lowe syndrome Nephrolithiasis/nephrocalcinosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA414617518	rs_1182741031	7 SubmittersRCV000680054 RCV004025269 RCV005601046
NM_000276.4(OCRL):c.2389G>C (p.Ala797Pro)	SNV Germline	ChrX:129588933	Pathogenic	Lowe syndrome	Criteria Provided Single Submitter	CA414631096	rs_935956958	1 SubmittersRCV000687544
NM_000276.4(OCRL):c.560+1G>C	SNV Germline	ChrX:129558754	Pathogenic/Likely pathogenic	Lowe syndrome Lowe syndrome Dent disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA414551530	rs_1569458883	2 SubmittersRCV000701856 RCV006249671
NM_000276.4(OCRL):c.769G>A (p.Gly257Arg)	SNV Germline	ChrX:129560596	Conflicting classifications of pathogenicity	Dent disease type 2 Lowe syndrome Nephrolithiasis/nephrocalcinosis Lowe syndrome Nonpapillary renal cell carcinoma	Criteria Provided Conflicting Classifications	CA414552020	rs_1388273402	5 SubmittersRCV002493273 RCV004026853 RCV003621565 RCV005901838
NM_000276.4(OCRL):c.2428C>T (p.Arg810Ter)	SNV Germline	ChrX:129588972	Pathogenic	Condition: not provided Lowe syndrome Dent disease type 2 Lowe syndrome	Criteria Provided Multiple Submitters No Conflicts	CA414631348	rs_1569463775	4 SubmittersRCV000729366 RCV000768436 RCV005046987
NM_000276.4(OCRL):c.2680T>A (p.Phe894Ile)	SNV Germline	ChrX:129590244	Conflicting classifications of pathogenicity	Condition: not provided not specified Lowe syndrome OCRL-related disorder Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA10512414	rs_147629352	5 SubmittersRCV000762668 RCV001816821 RCV002536591 RCV003918249 RCV004027204
NM_000276.4(OCRL):c.2464C>T (p.Arg822Ter)	SNV Germline	ChrX:129589008	Pathogenic	Lowe syndrome Dent disease type 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA414631575	rs_1602819835	4 SubmittersRCV000794610 RCV000851318 RCV004702424
NM_000276.4(OCRL):c.2470-1G>A	SNV Germline	ChrX:129589844	Likely pathogenic	Lowe syndrome	Criteria Provided Single Submitter	CA414631721	rs_1602820970	1 SubmittersRCV000814175
NM_000276.4(OCRL):c.1498C>T (p.Arg500Ter)	SNV Germline	ChrX:129569295	Pathogenic	Lowe syndrome	Criteria Provided Multiple Submitters No Conflicts	CA414616365	rs_398123287	2 SubmittersRCV000824979
NM_000276.4(OCRL):c.1979A>C (p.His660Pro)	SNV Germline	ChrX:129576416	Likely pathogenic	Lowe syndrome	Criteria Provided Single Submitter	CA414621105	rs_1602802640	2 SubmittersRCV000850186
NM_000276.4(OCRL):c.1907T>A (p.Val636Glu)	SNV Germline	ChrX:129576344	Pathogenic	Lowe syndrome	No Assertion Criteria Provided	CA414620152	rs_1602802472	1 SubmittersRCV000850187
NM_000276.4(OCRL):c.2563G>A (p.Val855Ile)	SNV Germline	ChrX:129589938	Conflicting classifications of pathogenicity	Lowe syndrome Condition: not provided Dent disease type 2 Lowe syndrome Nephrolithiasis/nephrocalcinosis not specified	Criteria Provided Conflicting Classifications	CA10512387	rs_376280495	6 SubmittersRCV000937727 RCV001573186 RCV002502871 RCV004029661 RCV005903201
NM_000276.4(OCRL):c.824G>C (p.Gly275Ala)	SNV Germline	ChrX:129560651	Likely pathogenic	Lowe syndrome	No Assertion Criteria Provided	CA414552146	rs_1602783564	1 SubmittersRCV001029771
NM_000276.4(OCRL):c.2469+1G>A	SNV Germline	ChrX:129589014	Pathogenic	Lowe syndrome	Criteria Provided Single Submitter	CA414631610	rs_1936553500	1 SubmittersRCV001036352
NM_000276.4(OCRL):c.741G>A (p.Trp247Ter)	SNV Germline	ChrX:129560568	Likely pathogenic	Lowe syndrome	Criteria Provided Single Submitter	CA414551955	rs_1936131926	1 SubmittersRCV001095682
NM_000276.4(OCRL):c.643C>T (p.Gln215Ter)	SNV Germline	ChrX:129558922	Pathogenic	Lowe syndrome	Criteria Provided Single Submitter	CA414551722	rs_1936103770	2 SubmittersRCV001172281
NM_000276.4(OCRL):c.1244+1G>A	SNV Germline	ChrX:129562787	Pathogenic/Likely pathogenic	Lowe syndrome Dent disease type 2 Lowe syndrome Thyroid cancer, nonmedullary, 1	Criteria Provided Multiple Submitters No Conflicts	CA414553154	rs_1936163310	3 SubmittersRCV001234126 RCV002504318 RCV005909105
NM_000276.4(OCRL):c.1466+1G>A	SNV Germline	ChrX:129567364	Likely pathogenic	Lowe syndrome	No Assertion Criteria Provided	CA414616052	rs_1936229983	1 SubmittersRCV001264796
NM_000276.4(OCRL):c.2066G>A (p.Arg689His)	SNV Germline	ChrX:129576503	Conflicting classifications of pathogenicity	Lowe syndrome Lowe syndrome Dent disease type 2 Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA10512272	rs_748186190	4 SubmittersRCV001291799 RCV002499519 RCV004035584
NM_000276.4(OCRL):c.428C>T (p.Ser143Phe)	SNV Germline	ChrX:129557939	Conflicting classifications of pathogenicity	Dent disease type 2 Lowe syndrome Dent disease type 2 Lowe syndrome OCRL-related disorder Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA10512018	rs_760751280	5 SubmittersRCV001329156 RCV002476540 RCV002546307 RCV003938635 RCV004035664
NM_000276.4(OCRL):c.1656C>T (p.Arg552=)	SNV Germline	ChrX:129575193	Conflicting classifications of pathogenicity	Dent disease type 2 Condition: not provided Lowe syndrome	Criteria Provided Conflicting Classifications	CA10512229	rs_761645724	3 SubmittersRCV001329155 RCV001751638 RCV002070157
NM_000276.4(OCRL):c.723-1G>A	SNV Germline	ChrX:129560549	Pathogenic	Lowe syndrome	Criteria Provided Single Submitter	CA414551911	rs_2124404113	1 SubmittersRCV001387353
NM_000276.4(OCRL):c.1320T>G (p.Asn440Lys)	SNV Germline	ChrX:129565847	Conflicting classifications of pathogenicity	Lowe syndrome Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA10512165	rs_761140161	2 SubmittersRCV001417905 RCV004038151
NM_000276.4(OCRL):c.1336A>G (p.Arg446Gly)	SNV Germline	ChrX:129565863	Conflicting classifications of pathogenicity	Lowe syndrome Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA10512166	rs_771429717	2 SubmittersRCV001446132 RCV004038442
NM_000276.4(OCRL):c.2257-2A>T	SNV Germline	ChrX:129588177	Pathogenic	Lowe syndrome	Criteria Provided Single Submitter	CA414629950	rs_2124429175	1 SubmittersRCV001526507
NM_000276.4(OCRL):c.850G>A (p.Glu284Lys)	SNV Unknown	ChrX:129561204	Likely pathogenic	Lowe syndrome	Criteria Provided Single Submitter	CA414552217	rs_2124404743	1 SubmittersRCV001730046
NM_000276.4(OCRL):c.2245G>T (p.Ala749Ser)	SNV Germline	ChrX:129587107	Conflicting classifications of pathogenicity	not specified Lowe syndrome	Criteria Provided Conflicting Classifications	CA10512331	rs_751678290	3 SubmittersRCV001797876 RCV002541311
NM_000276.4(OCRL):c.1852G>A (p.Glu618Lys)	SNV Germline	ChrX:129576035	Conflicting classifications of pathogenicity	Condition: not provided Nephrolithiasis/nephrocalcinosis Lowe syndrome	Criteria Provided Conflicting Classifications	CA414619622	rs_1376122843	3 SubmittersRCV001799933 RCV005692358 RCV006467980
NM_000276.4(OCRL):c.481G>A (p.Asp161Asn)	SNV Germline	ChrX:129558674	Conflicting classifications of pathogenicity	not specified Lowe syndrome Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA10512039	rs_372298378	3 SubmittersRCV001817516 RCV001869672 RCV004040967
NM_000276.4(OCRL):c.1567G>A (p.Asp523Asn)	SNV Germline	ChrX:129569364	Pathogenic	Lowe syndrome Condition: not provided	Criteria Provided Single Submitter	CA414616516	rs_2124412861	2 SubmittersRCV001849667 RCV005416549
NM_000276.4(OCRL):c.2282T>G (p.Met761Arg)	SNV Germline	ChrX:129588204	Conflicting classifications of pathogenicity	Lowe syndrome not specified	Criteria Provided Conflicting Classifications	CA414630257	rs_1336177262	2 SubmittersRCV001923104 RCV003994354
NM_000276.4(OCRL):c.1602+1G>T	SNV Germline	ChrX:129569400	Pathogenic	Lowe syndrome	Criteria Provided Single Submitter	CA414616598	rs_2124412937	1 SubmittersRCV001960629
NM_000276.4(OCRL):c.953G>A (p.Arg318His)	SNV Germline	ChrX:129562397	Pathogenic/Likely pathogenic	Lowe syndrome Dent disease type 2 Lowe syndrome OCRL-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA414552473	rs_2124405779	3 SubmittersRCV001950771 RCV002479582 RCV005868491
NM_000276.4(OCRL):c.115T>C (p.Tyr39His)	SNV Germline	ChrX:129540819	Conflicting classifications of pathogenicity	Lowe syndrome Dent disease type 2 Lowe syndrome	Criteria Provided Conflicting Classifications	CA10511932	rs_756670728	2 SubmittersRCV001908450 RCV002506965
NM_000276.4(OCRL):c.2256+1G>T	SNV Germline	ChrX:129587119	Likely pathogenic	Lowe syndrome Nonpapillary renal cell carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA414628407	rs_2124428298	3 SubmittersRCV001977225 RCV005925423
NM_000276.4(OCRL):c.1467T>C (p.Ser489=)	SNV Germline	ChrX:129569264	Conflicting classifications of pathogenicity	Lowe syndrome Nephrolithiasis/nephrocalcinosis Lowe syndrome Dent disease type 2	Criteria Provided Conflicting Classifications	CA10512200	rs_142398161	3 SubmittersRCV002006192 RCV004045217 RCV005042646
NM_000276.4(OCRL):c.2581G>C (p.Ala861Pro)	SNV Germline	ChrX:129589956	Likely pathogenic	Lowe syndrome	Criteria Provided Single Submitter	CA414632664	rs_2124430527	1 SubmittersRCV002040470
NM_000276.4(OCRL):c.2083C>T (p.Arg695Ter)	SNV Germline	ChrX:129576520	Pathogenic/Likely pathogenic	Lowe syndrome Condition: not provided Dent disease type 2 Lowe syndrome	Criteria Provided Multiple Submitters No Conflicts	CA414622484	rs_2124419087	5 SubmittersRCV001925739 RCV005251299 RCV005042508
NM_000276.4(OCRL):c.768C>T (p.Ser256=)	SNV Germline	ChrX:129560595	Conflicting classifications of pathogenicity	Lowe syndrome Condition: not provided Thyroid cancer, nonmedullary, 1	Criteria Provided Conflicting Classifications	CA518470916	rs_1368090073	3 SubmittersRCV002026072 RCV004694138 RCV005925634
NM_000276.4(OCRL):c.904G>T (p.Glu302Ter)	SNV Germline	ChrX:129561258	Pathogenic	Lowe syndrome	Criteria Provided Single Submitter	CA414552350	rs_2124404819	1 SubmittersRCV001956495
NM_000276.4(OCRL):c.1987C>T (p.Arg663Ter)	SNV Germline	ChrX:129576424	Pathogenic	Lowe syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA414621207	rs_2124419015	3 SubmittersRCV002250972 RCV005235643
NM_000276.4(OCRL):c.1210C>T (p.Gln404Ter)	SNV Germline	ChrX:129562752	Pathogenic	Lowe syndrome	Criteria Provided Single Submitter	CA414553072	rs_2521890316	1 SubmittersRCV002471387
NM_000276.4(OCRL):c.2581G>A (p.Ala861Thr)	SNV Germline	ChrX:129589956	Pathogenic/Likely pathogenic	Lowe syndrome Thyroid cancer, nonmedullary, 1 Nonpapillary renal cell carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA501121	rs_2124430527	3 SubmittersRCV002472245 RCV005931980 RCV005931979
NM_000276.4(OCRL):c.1222C>T (p.Gln408Ter)	SNV Germline	ChrX:129562764	Pathogenic	Lowe syndrome	Criteria Provided Single Submitter	CA414553095	rs_2521890405	1 SubmittersRCV003041481
NM_000276.4(OCRL):c.1522G>A (p.Val508Ile)	SNV Germline	ChrX:129569319	Conflicting classifications of pathogenicity	Lowe syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA414616414	rs_1358069294	2 SubmittersRCV002569771 RCV004809844
NM_000276.4(OCRL):c.1713+1G>A	SNV Germline	ChrX:129575251	Likely pathogenic	Lowe syndrome	Criteria Provided Single Submitter	CA414617984	rs_2521918360	1 SubmittersRCV002791887
NM_000276.4(OCRL):c.179G>A (p.Ser60Asn)	SNV Germline	ChrX:129545017	Conflicting classifications of pathogenicity	Lowe syndrome Dent disease type 2 Lowe syndrome	Criteria Provided Conflicting Classifications	CA414550608	rs_2521847008	2 SubmittersRCV002791742 RCV004725384
NM_000276.4(OCRL):c.1492T>C (p.Cys498Arg)	SNV Germline	ChrX:129569289	Pathogenic	Lowe syndrome	Criteria Provided Single Submitter	CA414616343	rs_2521906144	1 SubmittersRCV002875659
NM_000276.4(OCRL):c.1696G>T (p.Glu566Ter)	SNV Germline	ChrX:129575233	Pathogenic	Lowe syndrome	Criteria Provided Single Submitter	CA414617897	rs_2521918290	1 SubmittersRCV002889535
NM_000276.4(OCRL):c.235A>G (p.Asn79Asp)	SNV Germline	ChrX:129548598	Conflicting classifications of pathogenicity	Lowe syndrome Lowe syndrome Dent disease type 2 Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA10511978	rs_146556695	3 SubmittersRCV002886339 RCV005045034 RCV005398999
NM_000276.4(OCRL):c.943C>T (p.Gln315Ter)	SNV Germline	ChrX:129562387	Pathogenic	Lowe syndrome	Criteria Provided Single Submitter	CA414552455	rs_2521888798	1 SubmittersRCV002903369
NM_000276.4(OCRL):c.1541G>A (p.Arg514Gln)	SNV Germline	ChrX:129569338	Conflicting classifications of pathogenicity	Lowe syndrome Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA414616455	rs_1038673402	2 SubmittersRCV003621675 RCV004155476
NM_000276.4(OCRL):c.1775A>T (p.Asn592Ile)	SNV Germline	ChrX:129575958	Conflicting classifications of pathogenicity	Condition: not provided Lowe syndrome	Criteria Provided Conflicting Classifications	CA335707330	rs_991727453	2 SubmittersRCV003131851 RCV003509777
NM_000276.4(OCRL):c.985A>T (p.Arg329Ter)	SNV Germline	ChrX:129562429	Likely pathogenic	Lowe syndrome	Criteria Provided Single Submitter	CA414552545	rs_2521889054	1 SubmittersRCV003151704
NM_000276.4(OCRL):c.101A>G (p.Gln34Arg)	SNV Germline	ChrX:129540805	Conflicting classifications of pathogenicity	Lowe syndrome Condition: not provided Nephrolithiasis/nephrocalcinosis Dent disease type 2 Lowe syndrome	Criteria Provided Conflicting Classifications	CA10511928	rs_751244947	4 SubmittersRCV003509787 RCV003456577 RCV004272391 RCV005047461
NM_000276.4(OCRL):c.1714-2A>G	SNV Germline	ChrX:129575895	Likely pathogenic	Lowe syndrome	Criteria Provided Single Submitter	CA414618606	rs_2521920142	1 SubmittersRCV003388760
NM_000276.4(OCRL):c.722G>C (p.Arg241Thr)	SNV Germline	ChrX:129559001	Conflicting classifications of pathogenicity	Lowe syndrome not specified	Criteria Provided Conflicting Classifications	CA414551899	rs_2521879319	2 SubmittersRCV003444434 RCV006455655
NM_000276.4(OCRL):c.440-15G>A	SNV Germline	ChrX:129558618	Conflicting classifications of pathogenicity	Lowe syndrome Dent disease type 2 Lowe syndrome	Criteria Provided Conflicting Classifications	CA335084300	rs_201469600	2 SubmittersRCV003511409 RCV005047671
NM_000276.4(OCRL):c.474G>A (p.Met158Ile)	SNV Germline	ChrX:129558667	Conflicting classifications of pathogenicity	Lowe syndrome Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA414551330	rs_1437975458	2 SubmittersRCV003509338 RCV005387202
NM_000276.4(OCRL):c.2510G>A (p.Arg837His)	SNV Germline	ChrX:129589885	Conflicting classifications of pathogenicity	Lowe syndrome Dent disease type 2 Lowe syndrome	Criteria Provided Conflicting Classifications	CA414632044	rs_1333937435	2 SubmittersRCV003509080 RCV005051344
NM_000276.4(OCRL):c.1739G>A (p.Arg580Gln)	SNV Germline	ChrX:129575922	Conflicting classifications of pathogenicity	Lowe syndrome Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA10512245	rs_748420513	2 SubmittersRCV003509963 RCV006347718
NM_000276.4(OCRL):c.1879+2T>G	SNV Germline	ChrX:129576064	Likely pathogenic	Lowe syndrome	Criteria Provided Single Submitter	CA414619850	rs_2521920631	1 SubmittersRCV003510104
NM_000276.4(OCRL):c.940-15C>A	SNV Germline	ChrX:129562369	Conflicting classifications of pathogenicity	Lowe syndrome Lowe syndrome Dent disease type 2	Criteria Provided Conflicting Classifications	CA2579697908	rs_2521888708	2 SubmittersRCV003622450 RCV005051352
NM_000276.4(OCRL):c.1584C>T (p.Ser528=)	SNV Germline	ChrX:129569381	Conflicting classifications of pathogenicity	Lowe syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10512211	rs_762009796	3 SubmittersRCV003621988 RCV005425194
NM_000276.4(OCRL):c.1024G>T (p.Glu342Ter)	SNV Germline	ChrX:129562468	Pathogenic	Lowe syndrome	Criteria Provided Single Submitter	CA414552633	rs_1427698686	1 SubmittersRCV003622649
NM_000276.4(OCRL):c.200-7C>T	SNV Germline	ChrX:129548556	Conflicting classifications of pathogenicity	Lowe syndrome Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications	CA2739273755	rs_2521855515	2 SubmittersRCV003623195 RCV004018001
NM_000276.4(OCRL):c.349+2T>G	SNV Germline	ChrX:129557437	Likely pathogenic	Lowe syndrome	Criteria Provided Single Submitter	CA414551026	rs_2521873405	1 SubmittersRCV003623439
NM_000276.4(OCRL):c.1057-7C>A	SNV Germline	ChrX:129562592	Conflicting classifications of pathogenicity	Lowe syndrome Dent disease type 2 Lowe syndrome	Criteria Provided Conflicting Classifications	CA644575786	rs_1000441003	2 SubmittersRCV003623585 RCV005047792
NM_000276.4(OCRL):c.182A>G (p.His61Arg)	SNV Germline	ChrX:129545020	Conflicting classifications of pathogenicity	Lowe syndrome Dent disease type 2 Lowe syndrome	Criteria Provided Conflicting Classifications	CA414550616	rs_1286748036	2 SubmittersRCV003623721 RCV005047800
NM_000276.4(OCRL):c.1478G>A (p.Arg493Gln)	SNV Germline	ChrX:129569275	Likely pathogenic	Lowe syndrome	Criteria Provided Single Submitter	CA414616269	rs_2521906115	1 SubmittersRCV003622371
NM_000276.4(OCRL):c.1245-20T>G	SNV Germline	ChrX:129565752	Conflicting classifications of pathogenicity	Lowe syndrome	Criteria Provided Conflicting Classifications	CA10512155	rs_750377065	2 SubmittersRCV003837893
NM_000276.4(OCRL):c.2479C>T (p.Gln827Ter)	SNV Germline	ChrX:129589854	Pathogenic	Lowe syndrome	Criteria Provided Single Submitter	CA414631814	rs_2521949990	1 SubmittersRCV003988750
NM_000276.4(OCRL):c.1780C>T (p.Gln594Ter)	SNV Germline	ChrX:129575963	Likely pathogenic	Lowe syndrome	Criteria Provided Single Submitter	CA414619132	rs_2521920349	1 SubmittersRCV004547385
NM_000276.4(OCRL):c.1490G>A (p.Trp497Ter)	SNV Germline	ChrX:129569287	Likely pathogenic	Lowe syndrome	Criteria Provided Single Submitter		rs_2521906131	1 SubmittersRCV004595848
NM_000276.4(OCRL):c.1753G>T (p.Glu585Ter)	SNV Germline	ChrX:129575936	Likely pathogenic	Lowe syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004796577
NM_000276.4(OCRL):c.172A>G (p.Ile58Val)	SNV Germline	ChrX:129545010	Conflicting classifications of pathogenicity	Lowe syndrome Lowe syndrome Dent disease type 2	Criteria Provided Conflicting Classifications			2 SubmittersRCV005105344 RCV005041574
NM_000276.4(OCRL):c.561-1G>A	SNV Germline	ChrX:129558839	Likely pathogenic	Lowe syndrome Dent disease type 2	Criteria Provided Single Submitter			1 SubmittersRCV005041577
NM_000276.4(OCRL):c.2139+1G>A	SNV Germline	ChrX:129584368	Likely pathogenic	Lowe syndrome Dent disease type 2	Criteria Provided Single Submitter			1 SubmittersRCV005041589
NM_000276.4(OCRL):c.2115+1G>C	SNV Germline	ChrX:129576553	Likely pathogenic	Lowe syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005122484
NM_000276.4(OCRL):c.1457G>A (p.Trp486Ter)	SNV Germline	ChrX:129567354	Likely pathogenic	Lowe syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005253239
NM_000276.4(OCRL):c.829C>G (p.Gln277Glu)	SNV Germline	ChrX:129561183	Likely pathogenic	Lowe syndrome	No Assertion Criteria Provided			1 SubmittersRCV006257239
NM_000276.4(OCRL):c.1791C>A (p.Cys597Ter)	SNV Germline	ChrX:129575974	Pathogenic	Lowe syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006507836
NM_000276.4(OCRL):c.1528C>T (p.Gln510Ter)	SNV Germline	ChrX:129569325	Pathogenic	Lowe syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006495068
NM_000276.4(OCRL):c.2469+2T>G	SNV Germline	ChrX:129589015	Likely pathogenic	Lowe syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006495069
NM_000276.4(OCRL):c.1354C>T (p.Gln452Ter)	SNV Germline	ChrX:129565881	Pathogenic	Lowe syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006515926

NM_000276.4(OCRL):c.2530C>T (p.Arg844Ter)

SNV
Germline

ChrX:129589905

Pathogenic

Lowe syndrome
Condition: not provided
Dent disease type 2
Lowe syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA255580

rs_387906484

6 SubmittersRCV000011604 RCV001588808 RCV002496327

NM_000276.4(OCRL):c.1499G>A (p.Arg500Gln)

SNV
Germline

ChrX:129569296

Pathogenic

Lowe syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA255583

rs_137853260

5 SubmittersRCV000011605 RCV000724256

NM_000276.4(OCRL):c.1572C>G (p.His524Gln)

SNV
Germline

ChrX:129569369

Pathogenic

Lowe syndrome

No Assertion Criteria Provided

CA255585

rs_137853261

2 SubmittersRCV000011606

NM_000276.4(OCRL):c.952C>T (p.Arg318Cys)

SNV
Germline

ChrX:129562396

Pathogenic/Likely pathogenic

Dent disease type 2
Lowe syndrome
Condition: not provided
OCRL-related disorder
Lowe syndrome
Dent disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA266168

rs_137853263

7 SubmittersRCV000011608 RCV000059607 RCV000727111 RCV004752699 RCV006249554

NM_000276.4(OCRL):c.1009C>T (p.Arg337Cys)

SNV
Germline

ChrX:129562453

Conflicting classifications of pathogenicity

Lowe syndrome
not specified

Criteria Provided
Conflicting Classifications

CA266138

rs_137853831

4 SubmittersRCV000059576 RCV003488373

NM_000276.4(OCRL):c.1477C>T (p.Arg493Trp)

SNV
Germline

ChrX:129569274

Pathogenic

Dent disease type 2
Lowe syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA345320

rs_137853846

5 SubmittersRCV000059593 RCV006461407

NM_000276.4(OCRL):c.1571A>G (p.His524Arg)

SNV
Germline

ChrX:129569368

Likely pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

CA266161

rs_137853852

2 SubmittersRCV000059600

NM_000276.4(OCRL):c.1577C>T (p.Pro526Leu)

SNV
Germline

ChrX:129569374

Pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

CA266162

rs_137853858

2 SubmittersRCV000059601

NM_000276.4(OCRL):c.821T>C (p.Ile274Thr)

SNV
Germline

ChrX:129560648

Likely pathogenic

Lowe syndrome
Dent disease type 2
Lowe syndrome

Criteria Provided
Single Submitter

CA266166

rs_137853829

2 SubmittersRCV000059605 RCV005042183

NM_000276.4(OCRL):c.439+3A>G

SNV
Germline

ChrX:129557953

Conflicting classifications of pathogenicity

Developmental cataract
not specified
Lowe syndrome
Condition: not provided
Lowe syndrome
Dent disease type 2
Nephrolithiasis/nephrocalcinosis
Genetic developmental and epileptic encephalopathy
Epilepsy

Criteria Provided
Conflicting Classifications

CA208426

rs_61752971

16 SubmittersRCV000203379 RCV000194322 RCV000990943 RCV001729379 RCV002490676 RCV004019526 RCV005625269 RCV005625268

NM_000276.4(OCRL):c.39+10G>A

SNV
Germline

ChrX:129540488

Conflicting classifications of pathogenicity

Condition: not provided
Lowe syndrome
not specified
OCRL-related disorder

Criteria Provided
Conflicting Classifications

CA238577

rs_765141317

4 SubmittersRCV000173095 RCV002054037 RCV003150965 RCV003947458

NM_000276.4(OCRL):c.1714-1G>A

SNV
Germline

ChrX:129575896

Pathogenic

Condition: not provided
Lowe syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA275039

rs_794727182

2 SubmittersRCV000175133 RCV001380038

NM_000276.4(OCRL):c.2299C>T (p.Gln767Ter)

SNV
Germline

ChrX:129588221

Pathogenic

Condition: not provided
Lowe syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA275100

rs_794727333

2 SubmittersRCV000176152 RCV001852169

NM_000276.4(OCRL):c.40-5C>T

SNV
Germline

ChrX:129540739

Conflicting classifications of pathogenicity

not specified
Lowe syndrome
Condition: not provided
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA209906

rs_201211377

7 SubmittersRCV000195233 RCV000714602 RCV001701636 RCV004020329

NM_000276.4(OCRL):c.471T>G (p.Ser157=)

SNV
Germline

ChrX:129558664

Conflicting classifications of pathogenicity

not specified
Lowe syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA205435

rs_747396791

3 SubmittersRCV000192545 RCV002057005 RCV003436997

NM_000276.4(OCRL):c.954C>T (p.Arg318=)

SNV
Germline

ChrX:129562398

Conflicting classifications of pathogenicity

not specified
Lowe syndrome
Nephrolithiasis/nephrocalcinosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA206830

rs_149646700

4 SubmittersRCV000193379 RCV002057006 RCV004020330 RCV006263740

NM_000276.4(OCRL):c.1576C>T (p.Pro526Ser)

SNV
Germline

ChrX:129569373

Pathogenic

Condition: not provided
Lowe syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10588739

rs_886039518

2 SubmittersRCV000256005 RCV001855009

NM_000276.4(OCRL):c.940-11G>A

SNV
Germline

ChrX:129562373

Pathogenic/Likely pathogenic

Condition: not provided
Lowe syndrome
Dent disease type 2
Dent disease type 2
Neurodevelopmental delay
Lowe syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10603588

rs_776743373

6 SubmittersRCV000338582 RCV000590981 RCV001335218 RCV002274006 RCV001855052

NM_000276.4(OCRL):c.471T>A (p.Ser157=)

SNV
Germline

ChrX:129558664

Conflicting classifications of pathogenicity

Condition: not provided
Lowe syndrome

Criteria Provided
Conflicting Classifications

CA10512038

rs_747396791

2 SubmittersRCV000332788 RCV002518983

NM_000276.4(OCRL):c.239-4023A>G

SNV
Germline

ChrX:129553302

Pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

CA16040625

rs_1057515577

1 SubmittersRCV000408904

NM_000276.4(OCRL):c.2695G>A (p.Glu899Lys)

SNV
Germline

ChrX:129590259

Conflicting classifications of pathogenicity

Condition: not provided
Lowe syndrome

Criteria Provided
Conflicting Classifications

CA10512417

rs_749551841

2 SubmittersRCV000445063 RCV003509530

NM_000276.4(OCRL):c.50G>C (p.Gly17Ala)

SNV
Germline

ChrX:129540754

Conflicting classifications of pathogenicity

not specified
Lowe syndrome
Condition: not provided
Nephrolithiasis/nephrocalcinosis
OCRL-related disorder

Criteria Provided
Conflicting Classifications

CA10511918

rs_768913997

5 SubmittersRCV000502299 RCV002056860 RCV003992307 RCV004023389 RCV004752922

NM_000276.4(OCRL):c.1000C>T (p.Arg334Ter)

SNV
Germline

ChrX:129562444

Pathogenic

Lowe syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA414552583

rs_1556346316

3 SubmittersRCV000591698 RCV000727227

NM_000276.4(OCRL):c.1621C>T (p.Arg541Ter)

SNV
Germline

ChrX:129575158

Pathogenic

Lowe syndrome
Nephrolithiasis/nephrocalcinosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA414617518

rs_1182741031

7 SubmittersRCV000680054 RCV004025269 RCV005601046

NM_000276.4(OCRL):c.2389G>C (p.Ala797Pro)

SNV
Germline

ChrX:129588933

Pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

CA414631096

rs_935956958

1 SubmittersRCV000687544

NM_000276.4(OCRL):c.560+1G>C

SNV
Germline

ChrX:129558754

Pathogenic/Likely pathogenic

Lowe syndrome
Lowe syndrome
Dent disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA414551530

rs_1569458883

2 SubmittersRCV000701856 RCV006249671

NM_000276.4(OCRL):c.769G>A (p.Gly257Arg)

SNV
Germline

ChrX:129560596

Conflicting classifications of pathogenicity

Dent disease type 2
Lowe syndrome
Nephrolithiasis/nephrocalcinosis
Lowe syndrome
Nonpapillary renal cell carcinoma

Criteria Provided
Conflicting Classifications

CA414552020

rs_1388273402

5 SubmittersRCV002493273 RCV004026853 RCV003621565 RCV005901838

NM_000276.4(OCRL):c.2428C>T (p.Arg810Ter)

SNV
Germline

ChrX:129588972

Pathogenic

Condition: not provided
Lowe syndrome
Dent disease type 2
Lowe syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA414631348

rs_1569463775

4 SubmittersRCV000729366 RCV000768436 RCV005046987

NM_000276.4(OCRL):c.2680T>A (p.Phe894Ile)

SNV
Germline

ChrX:129590244

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Lowe syndrome
OCRL-related disorder
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA10512414

rs_147629352

5 SubmittersRCV000762668 RCV001816821 RCV002536591 RCV003918249 RCV004027204

NM_000276.4(OCRL):c.2464C>T (p.Arg822Ter)

SNV
Germline

ChrX:129589008

Pathogenic

Lowe syndrome
Dent disease type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA414631575

rs_1602819835

4 SubmittersRCV000794610 RCV000851318 RCV004702424

NM_000276.4(OCRL):c.2470-1G>A

SNV
Germline

ChrX:129589844

Likely pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

CA414631721

rs_1602820970

1 SubmittersRCV000814175

NM_000276.4(OCRL):c.1498C>T (p.Arg500Ter)

SNV
Germline

ChrX:129569295

Pathogenic

Lowe syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA414616365

rs_398123287

2 SubmittersRCV000824979

NM_000276.4(OCRL):c.1979A>C (p.His660Pro)

SNV
Germline

ChrX:129576416

Likely pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

CA414621105

rs_1602802640

2 SubmittersRCV000850186

NM_000276.4(OCRL):c.1907T>A (p.Val636Glu)

SNV
Germline

ChrX:129576344

Pathogenic

Lowe syndrome

No Assertion Criteria Provided

CA414620152

rs_1602802472

1 SubmittersRCV000850187

NM_000276.4(OCRL):c.2563G>A (p.Val855Ile)

SNV
Germline

ChrX:129589938

Conflicting classifications of pathogenicity

Lowe syndrome
Condition: not provided
Dent disease type 2
Lowe syndrome
Nephrolithiasis/nephrocalcinosis
not specified

Criteria Provided
Conflicting Classifications

CA10512387

rs_376280495

6 SubmittersRCV000937727 RCV001573186 RCV002502871 RCV004029661 RCV005903201

NM_000276.4(OCRL):c.824G>C (p.Gly275Ala)

SNV
Germline

ChrX:129560651

Likely pathogenic

Lowe syndrome

No Assertion Criteria Provided

CA414552146

rs_1602783564

1 SubmittersRCV001029771

NM_000276.4(OCRL):c.2469+1G>A

SNV
Germline

ChrX:129589014

Pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

CA414631610

rs_1936553500

1 SubmittersRCV001036352

NM_000276.4(OCRL):c.741G>A (p.Trp247Ter)

SNV
Germline

ChrX:129560568

Likely pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

CA414551955

rs_1936131926

1 SubmittersRCV001095682

NM_000276.4(OCRL):c.643C>T (p.Gln215Ter)

SNV
Germline

ChrX:129558922

Pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

CA414551722

rs_1936103770

2 SubmittersRCV001172281

NM_000276.4(OCRL):c.1244+1G>A

SNV
Germline

ChrX:129562787

Pathogenic/Likely pathogenic

Lowe syndrome
Dent disease type 2
Lowe syndrome
Thyroid cancer, nonmedullary, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA414553154

rs_1936163310

3 SubmittersRCV001234126 RCV002504318 RCV005909105

NM_000276.4(OCRL):c.1466+1G>A

SNV
Germline

ChrX:129567364

Likely pathogenic

Lowe syndrome

No Assertion Criteria Provided

CA414616052

rs_1936229983

1 SubmittersRCV001264796

NM_000276.4(OCRL):c.2066G>A (p.Arg689His)

SNV
Germline

ChrX:129576503

Conflicting classifications of pathogenicity

Lowe syndrome
Lowe syndrome
Dent disease type 2
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA10512272

rs_748186190

4 SubmittersRCV001291799 RCV002499519 RCV004035584

NM_000276.4(OCRL):c.428C>T (p.Ser143Phe)

SNV
Germline

ChrX:129557939

Conflicting classifications of pathogenicity

Dent disease type 2
Lowe syndrome
Dent disease type 2
Lowe syndrome
OCRL-related disorder
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA10512018

rs_760751280

5 SubmittersRCV001329156 RCV002476540 RCV002546307 RCV003938635 RCV004035664

NM_000276.4(OCRL):c.1656C>T (p.Arg552=)

SNV
Germline

ChrX:129575193

Conflicting classifications of pathogenicity

Dent disease type 2
Condition: not provided
Lowe syndrome

Criteria Provided
Conflicting Classifications

CA10512229

rs_761645724

3 SubmittersRCV001329155 RCV001751638 RCV002070157

NM_000276.4(OCRL):c.723-1G>A

SNV
Germline

ChrX:129560549

Pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

CA414551911

rs_2124404113

1 SubmittersRCV001387353

NM_000276.4(OCRL):c.1320T>G (p.Asn440Lys)

SNV
Germline

ChrX:129565847

Conflicting classifications of pathogenicity

Lowe syndrome
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA10512165

rs_761140161

2 SubmittersRCV001417905 RCV004038151

NM_000276.4(OCRL):c.1336A>G (p.Arg446Gly)

SNV
Germline

ChrX:129565863

Conflicting classifications of pathogenicity

Lowe syndrome
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA10512166

rs_771429717

2 SubmittersRCV001446132 RCV004038442

NM_000276.4(OCRL):c.2257-2A>T

SNV
Germline

ChrX:129588177

Pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

CA414629950

rs_2124429175

1 SubmittersRCV001526507

NM_000276.4(OCRL):c.850G>A (p.Glu284Lys)

SNV
Unknown

ChrX:129561204

Likely pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

CA414552217

rs_2124404743

1 SubmittersRCV001730046

NM_000276.4(OCRL):c.2245G>T (p.Ala749Ser)

SNV
Germline

ChrX:129587107

Conflicting classifications of pathogenicity

not specified
Lowe syndrome

Criteria Provided
Conflicting Classifications

CA10512331

rs_751678290

3 SubmittersRCV001797876 RCV002541311

NM_000276.4(OCRL):c.1852G>A (p.Glu618Lys)

SNV
Germline

ChrX:129576035

Conflicting classifications of pathogenicity

Condition: not provided
Nephrolithiasis/nephrocalcinosis
Lowe syndrome

Criteria Provided
Conflicting Classifications

CA414619622

rs_1376122843

3 SubmittersRCV001799933 RCV005692358 RCV006467980

NM_000276.4(OCRL):c.481G>A (p.Asp161Asn)

SNV
Germline

ChrX:129558674

Conflicting classifications of pathogenicity

not specified
Lowe syndrome
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA10512039

rs_372298378

3 SubmittersRCV001817516 RCV001869672 RCV004040967

NM_000276.4(OCRL):c.1567G>A (p.Asp523Asn)

SNV
Germline

ChrX:129569364

Pathogenic

Lowe syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA414616516

rs_2124412861

2 SubmittersRCV001849667 RCV005416549

NM_000276.4(OCRL):c.2282T>G (p.Met761Arg)

SNV
Germline

ChrX:129588204

Conflicting classifications of pathogenicity

Lowe syndrome
not specified

Criteria Provided
Conflicting Classifications

CA414630257

rs_1336177262

2 SubmittersRCV001923104 RCV003994354

NM_000276.4(OCRL):c.1602+1G>T

SNV
Germline

ChrX:129569400

Pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

CA414616598

rs_2124412937

1 SubmittersRCV001960629

NM_000276.4(OCRL):c.953G>A (p.Arg318His)

SNV
Germline

ChrX:129562397

Pathogenic/Likely pathogenic

Lowe syndrome
Dent disease type 2
Lowe syndrome
OCRL-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA414552473

rs_2124405779

3 SubmittersRCV001950771 RCV002479582 RCV005868491

NM_000276.4(OCRL):c.115T>C (p.Tyr39His)

SNV
Germline

ChrX:129540819

Conflicting classifications of pathogenicity

Lowe syndrome
Dent disease type 2
Lowe syndrome

Criteria Provided
Conflicting Classifications

CA10511932

rs_756670728

2 SubmittersRCV001908450 RCV002506965

NM_000276.4(OCRL):c.2256+1G>T

SNV
Germline

ChrX:129587119

Likely pathogenic

Lowe syndrome
Nonpapillary renal cell carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA414628407

rs_2124428298

3 SubmittersRCV001977225 RCV005925423

NM_000276.4(OCRL):c.1467T>C (p.Ser489=)

SNV
Germline

ChrX:129569264

Conflicting classifications of pathogenicity

Lowe syndrome
Nephrolithiasis/nephrocalcinosis
Lowe syndrome
Dent disease type 2

Criteria Provided
Conflicting Classifications

CA10512200

rs_142398161

3 SubmittersRCV002006192 RCV004045217 RCV005042646

NM_000276.4(OCRL):c.2581G>C (p.Ala861Pro)

SNV
Germline

ChrX:129589956

Likely pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

CA414632664

rs_2124430527

1 SubmittersRCV002040470

NM_000276.4(OCRL):c.2083C>T (p.Arg695Ter)

SNV
Germline

ChrX:129576520

Pathogenic/Likely pathogenic

Lowe syndrome
Condition: not provided
Dent disease type 2
Lowe syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA414622484

rs_2124419087

5 SubmittersRCV001925739 RCV005251299 RCV005042508

NM_000276.4(OCRL):c.768C>T (p.Ser256=)

SNV
Germline

ChrX:129560595

Conflicting classifications of pathogenicity

Lowe syndrome
Condition: not provided
Thyroid cancer, nonmedullary, 1

Criteria Provided
Conflicting Classifications

CA518470916

rs_1368090073

3 SubmittersRCV002026072 RCV004694138 RCV005925634

NM_000276.4(OCRL):c.904G>T (p.Glu302Ter)

SNV
Germline

ChrX:129561258

Pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

CA414552350

rs_2124404819

1 SubmittersRCV001956495

NM_000276.4(OCRL):c.1987C>T (p.Arg663Ter)

SNV
Germline

ChrX:129576424

Pathogenic

Lowe syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA414621207

rs_2124419015

3 SubmittersRCV002250972 RCV005235643

NM_000276.4(OCRL):c.1210C>T (p.Gln404Ter)

SNV
Germline

ChrX:129562752

Pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

CA414553072

rs_2521890316

1 SubmittersRCV002471387

NM_000276.4(OCRL):c.2581G>A (p.Ala861Thr)

SNV
Germline

ChrX:129589956

Pathogenic/Likely pathogenic

Lowe syndrome
Thyroid cancer, nonmedullary, 1
Nonpapillary renal cell carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA501121

rs_2124430527

3 SubmittersRCV002472245 RCV005931980 RCV005931979

NM_000276.4(OCRL):c.1222C>T (p.Gln408Ter)

SNV
Germline

ChrX:129562764

Pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

CA414553095

rs_2521890405

1 SubmittersRCV003041481

NM_000276.4(OCRL):c.1522G>A (p.Val508Ile)

SNV
Germline

ChrX:129569319

Conflicting classifications of pathogenicity

Lowe syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA414616414

rs_1358069294

2 SubmittersRCV002569771 RCV004809844

NM_000276.4(OCRL):c.1713+1G>A

SNV
Germline

ChrX:129575251

Likely pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

CA414617984

rs_2521918360

1 SubmittersRCV002791887

NM_000276.4(OCRL):c.179G>A (p.Ser60Asn)

SNV
Germline

ChrX:129545017

Conflicting classifications of pathogenicity

Lowe syndrome
Dent disease type 2
Lowe syndrome

Criteria Provided
Conflicting Classifications

CA414550608

rs_2521847008

2 SubmittersRCV002791742 RCV004725384

NM_000276.4(OCRL):c.1492T>C (p.Cys498Arg)

SNV
Germline

ChrX:129569289

Pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

CA414616343

rs_2521906144

1 SubmittersRCV002875659

NM_000276.4(OCRL):c.1696G>T (p.Glu566Ter)

SNV
Germline

ChrX:129575233

Pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

CA414617897

rs_2521918290

1 SubmittersRCV002889535

NM_000276.4(OCRL):c.235A>G (p.Asn79Asp)

SNV
Germline

ChrX:129548598

Conflicting classifications of pathogenicity

Lowe syndrome
Lowe syndrome
Dent disease type 2
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA10511978

rs_146556695

3 SubmittersRCV002886339 RCV005045034 RCV005398999

NM_000276.4(OCRL):c.943C>T (p.Gln315Ter)

SNV
Germline

ChrX:129562387

Pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

CA414552455

rs_2521888798

1 SubmittersRCV002903369

NM_000276.4(OCRL):c.1541G>A (p.Arg514Gln)

SNV
Germline

ChrX:129569338

Conflicting classifications of pathogenicity

Lowe syndrome
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA414616455

rs_1038673402

2 SubmittersRCV003621675 RCV004155476

NM_000276.4(OCRL):c.1775A>T (p.Asn592Ile)

SNV
Germline

ChrX:129575958

Conflicting classifications of pathogenicity

Condition: not provided
Lowe syndrome

Criteria Provided
Conflicting Classifications

CA335707330

rs_991727453

2 SubmittersRCV003131851 RCV003509777

NM_000276.4(OCRL):c.985A>T (p.Arg329Ter)

SNV
Germline

ChrX:129562429

Likely pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

CA414552545

rs_2521889054

1 SubmittersRCV003151704

NM_000276.4(OCRL):c.101A>G (p.Gln34Arg)

SNV
Germline

ChrX:129540805

Conflicting classifications of pathogenicity

Lowe syndrome
Condition: not provided
Nephrolithiasis/nephrocalcinosis
Dent disease type 2
Lowe syndrome

Criteria Provided
Conflicting Classifications

CA10511928

rs_751244947

4 SubmittersRCV003509787 RCV003456577 RCV004272391 RCV005047461

NM_000276.4(OCRL):c.1714-2A>G

SNV
Germline

ChrX:129575895

Likely pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

CA414618606

rs_2521920142

1 SubmittersRCV003388760

NM_000276.4(OCRL):c.722G>C (p.Arg241Thr)

SNV
Germline

ChrX:129559001

Conflicting classifications of pathogenicity

Lowe syndrome
not specified

Criteria Provided
Conflicting Classifications

CA414551899

rs_2521879319

2 SubmittersRCV003444434 RCV006455655

NM_000276.4(OCRL):c.440-15G>A

SNV
Germline

ChrX:129558618

Conflicting classifications of pathogenicity

Lowe syndrome
Dent disease type 2
Lowe syndrome

Criteria Provided
Conflicting Classifications

CA335084300

rs_201469600

2 SubmittersRCV003511409 RCV005047671

NM_000276.4(OCRL):c.474G>A (p.Met158Ile)

SNV
Germline

ChrX:129558667

Conflicting classifications of pathogenicity

Lowe syndrome
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA414551330

rs_1437975458

2 SubmittersRCV003509338 RCV005387202

NM_000276.4(OCRL):c.2510G>A (p.Arg837His)

SNV
Germline

ChrX:129589885

Conflicting classifications of pathogenicity

Lowe syndrome
Dent disease type 2
Lowe syndrome

Criteria Provided
Conflicting Classifications

CA414632044

rs_1333937435

2 SubmittersRCV003509080 RCV005051344

NM_000276.4(OCRL):c.1739G>A (p.Arg580Gln)

SNV
Germline

ChrX:129575922

Conflicting classifications of pathogenicity

Lowe syndrome
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA10512245

rs_748420513

2 SubmittersRCV003509963 RCV006347718

NM_000276.4(OCRL):c.1879+2T>G

SNV
Germline

ChrX:129576064

Likely pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

CA414619850

rs_2521920631

1 SubmittersRCV003510104

NM_000276.4(OCRL):c.940-15C>A

SNV
Germline

ChrX:129562369

Conflicting classifications of pathogenicity

Lowe syndrome
Lowe syndrome
Dent disease type 2

Criteria Provided
Conflicting Classifications

CA2579697908

rs_2521888708

2 SubmittersRCV003622450 RCV005051352

NM_000276.4(OCRL):c.1584C>T (p.Ser528=)

SNV
Germline

ChrX:129569381

Conflicting classifications of pathogenicity

Lowe syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10512211

rs_762009796

3 SubmittersRCV003621988 RCV005425194

NM_000276.4(OCRL):c.1024G>T (p.Glu342Ter)

SNV
Germline

ChrX:129562468

Pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

CA414552633

rs_1427698686

1 SubmittersRCV003622649

NM_000276.4(OCRL):c.200-7C>T

SNV
Germline

ChrX:129548556

Conflicting classifications of pathogenicity

Lowe syndrome
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

CA2739273755

rs_2521855515

2 SubmittersRCV003623195 RCV004018001

NM_000276.4(OCRL):c.349+2T>G

SNV
Germline

ChrX:129557437

Likely pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

CA414551026

rs_2521873405

1 SubmittersRCV003623439

NM_000276.4(OCRL):c.1057-7C>A

SNV
Germline

ChrX:129562592

Conflicting classifications of pathogenicity

Lowe syndrome
Dent disease type 2
Lowe syndrome

Criteria Provided
Conflicting Classifications

CA644575786

rs_1000441003

2 SubmittersRCV003623585 RCV005047792

NM_000276.4(OCRL):c.182A>G (p.His61Arg)

SNV
Germline

ChrX:129545020

Conflicting classifications of pathogenicity

Lowe syndrome
Dent disease type 2
Lowe syndrome

Criteria Provided
Conflicting Classifications

CA414550616

rs_1286748036

2 SubmittersRCV003623721 RCV005047800

NM_000276.4(OCRL):c.1478G>A (p.Arg493Gln)

SNV
Germline

ChrX:129569275

Likely pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

CA414616269

rs_2521906115

1 SubmittersRCV003622371

NM_000276.4(OCRL):c.1245-20T>G

SNV
Germline

ChrX:129565752

Conflicting classifications of pathogenicity

Lowe syndrome

Criteria Provided
Conflicting Classifications

CA10512155

rs_750377065

2 SubmittersRCV003837893

NM_000276.4(OCRL):c.2479C>T (p.Gln827Ter)

SNV
Germline

ChrX:129589854

Pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

CA414631814

rs_2521949990

1 SubmittersRCV003988750

NM_000276.4(OCRL):c.1780C>T (p.Gln594Ter)

SNV
Germline

ChrX:129575963

Likely pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

CA414619132

rs_2521920349

1 SubmittersRCV004547385

NM_000276.4(OCRL):c.1490G>A (p.Trp497Ter)

SNV
Germline

ChrX:129569287

Likely pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

rs_2521906131

1 SubmittersRCV004595848

NM_000276.4(OCRL):c.1753G>T (p.Glu585Ter)

SNV
Germline

ChrX:129575936

Likely pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004796577

NM_000276.4(OCRL):c.172A>G (p.Ile58Val)

SNV
Germline

ChrX:129545010

Conflicting classifications of pathogenicity

Lowe syndrome
Lowe syndrome
Dent disease type 2

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005105344 RCV005041574

NM_000276.4(OCRL):c.561-1G>A

SNV
Germline

ChrX:129558839

Likely pathogenic

Lowe syndrome
Dent disease type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005041577

NM_000276.4(OCRL):c.2139+1G>A

SNV
Germline

ChrX:129584368

Likely pathogenic

Lowe syndrome
Dent disease type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005041589

NM_000276.4(OCRL):c.2115+1G>C

SNV
Germline

ChrX:129576553

Likely pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005122484

NM_000276.4(OCRL):c.1457G>A (p.Trp486Ter)

SNV
Germline

ChrX:129567354

Likely pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005253239

NM_000276.4(OCRL):c.829C>G (p.Gln277Glu)

SNV
Germline

ChrX:129561183

Likely pathogenic

Lowe syndrome

No Assertion Criteria Provided

1 SubmittersRCV006257239

NM_000276.4(OCRL):c.1791C>A (p.Cys597Ter)

SNV
Germline

ChrX:129575974

Pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006507836

NM_000276.4(OCRL):c.1528C>T (p.Gln510Ter)

SNV
Germline

ChrX:129569325

Pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006495068

NM_000276.4(OCRL):c.2469+2T>G

SNV
Germline

ChrX:129589015

Likely pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006495069

NM_000276.4(OCRL):c.1354C>T (p.Gln452Ter)

SNV
Germline

ChrX:129565881

Pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006515926