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 Lowe syndrome Dent disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA255580	rs_387906484	5 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	Likely pathogenic	Dent disease type 2 Lowe syndrome Condition: not provided	Criteria Provided Single Submitter	CA266168	rs_137853263	4 SubmittersRCV000011608 RCV000059607 RCV000727111
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	3 SubmittersRCV000059576 RCV003488373
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.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	6 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	Criteria Provided Conflicting Classifications	CA206830	rs_149646700	3 SubmittersRCV000193379 RCV002057006 RCV004020330
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 Lowe syndrome Neurodevelopmental delay	Criteria Provided Multiple Submitters No Conflicts	CA10603588	rs_776743373	5 SubmittersRCV000338582 RCV000590981 RCV001335218 RCV001855052 RCV002274006
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	Criteria Provided Conflicting Classifications	CA10511918	rs_768913997	4 SubmittersRCV000502299 RCV002056860 RCV003992307 RCV004023389
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	2 SubmittersRCV000591698 RCV000727227
NM_000276.4(OCRL):c.1621C>T (p.Arg541Ter)	SNV Germline	ChrX:129575158	Pathogenic	Lowe syndrome Nephrolithiasis/nephrocalcinosis	Criteria Provided Multiple Submitters No Conflicts	CA414617518	rs_1182741031	5 SubmittersRCV000680054 RCV004025269
NM_000276.4(OCRL):c.2389G>C (p.Ala797Pro)	SNV Germline	ChrX:129588933	Pathogenic	Lowe syndrome	Criteria Provided Single Submitter		rs_935956958	1 SubmittersRCV000687544
NM_000276.4(OCRL):c.560+1G>C	SNV Germline	ChrX:129558754	Likely pathogenic	Lowe syndrome	Criteria Provided Single Submitter		rs_1569458883	1 SubmittersRCV000701856
NM_000276.4(OCRL):c.769G>A (p.Gly257Arg)	SNV Germline	ChrX:129560596	Conflicting classifications of pathogenicity	Dent disease type 2 Lowe syndrome Lowe syndrome Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications		rs_1388273402	3 SubmittersRCV002493273 RCV003621565 RCV004026853
NM_000276.4(OCRL):c.2428C>T (p.Arg810Ter)	SNV Germline	ChrX:129588972	Pathogenic	Condition: not provided Lowe syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1569463775	3 SubmittersRCV000729366 RCV000768436
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		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	Criteria Provided Multiple Submitters No Conflicts		rs_1602819835	3 SubmittersRCV000794610 RCV000851318
NM_000276.4(OCRL):c.2470-1G>A	SNV Germline	ChrX:129589844	Likely pathogenic	Lowe syndrome	Criteria Provided Single Submitter		rs_1602820970	1 SubmittersRCV000814175
NM_000276.4(OCRL):c.1498C>T (p.Arg500Ter)	SNV Unknown	ChrX:129569295	Pathogenic	Lowe syndrome	Criteria Provided Single Submitter		rs_398123287	1 SubmittersRCV000824979
NM_000276.4(OCRL):c.1979A>C (p.His660Pro)	SNV Germline	ChrX:129576416	Pathogenic	Lowe syndrome	No Assertion Criteria Provided		rs_1602802640	1 SubmittersRCV000850186
NM_000276.4(OCRL):c.1907T>A (p.Val636Glu)	SNV Germline	ChrX:129576344	Pathogenic	Lowe syndrome	No Assertion Criteria Provided		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 Lowe syndrome Dent disease type 2 Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications		rs_376280495	5 SubmittersRCV000937727 RCV001573186 RCV002502871 RCV004029661
NM_000276.4(OCRL):c.824G>C (p.Gly275Ala)	SNV Germline	ChrX:129560651	Likely pathogenic	Lowe syndrome	No Assertion Criteria Provided		rs_1602783564	1 SubmittersRCV001029771
NM_000276.4(OCRL):c.2469+1G>A	SNV Germline	ChrX:129589014	Pathogenic	Lowe syndrome	Criteria Provided Single Submitter		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		rs_1936131926	1 SubmittersRCV001095682
NM_000276.4(OCRL):c.643C>T (p.Gln215Ter)	SNV Germline	ChrX:129558922	Pathogenic	Lowe syndrome	Criteria Provided Single Submitter		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	Criteria Provided Multiple Submitters No Conflicts		rs_1936163310	2 SubmittersRCV001234126 RCV002504318
NM_000276.4(OCRL):c.1466+1G>A	SNV Germline	ChrX:129567364	Likely pathogenic	Lowe syndrome	No Assertion Criteria Provided		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		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		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		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		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		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		rs_771429717	2 SubmittersRCV001446132 RCV004038442
NM_000276.4(OCRL):c.2257-2A>T	SNV Germline	ChrX:129588177	Pathogenic	Lowe syndrome	Criteria Provided Single Submitter		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		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		rs_751678290	3 SubmittersRCV001797876 RCV002541311
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		rs_372298378	3 SubmittersRCV001817516 RCV001869672 RCV004040967
NM_000276.4(OCRL):c.1567G>A (p.Asp523Asn)	SNV Germline	ChrX:129569364	Pathogenic	Lowe syndrome	No Assertion Criteria Provided		rs_2124412861	1 SubmittersRCV001849667
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		rs_1336177262	2 SubmittersRCV001923104 RCV003994354
NM_000276.4(OCRL):c.1602+1G>T	SNV Germline	ChrX:129569400	Pathogenic	Lowe syndrome	Criteria Provided Single Submitter		rs_2124412937	1 SubmittersRCV001960629
NM_000276.4(OCRL):c.953G>A (p.Arg318His)	SNV Germline	ChrX:129562397	Pathogenic/Likely pathogenic	Lowe syndrome Lowe syndrome Dent disease type 2	Criteria Provided Multiple Submitters No Conflicts		rs_2124405779	2 SubmittersRCV001950771 RCV002479582
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		rs_756670728	2 SubmittersRCV001908450 RCV002506965
NM_000276.4(OCRL):c.2256+1G>T	SNV Germline	ChrX:129587119	Likely pathogenic	Lowe syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_2124428298	2 SubmittersRCV001977225
NM_000276.4(OCRL):c.1467T>C (p.Ser489=)	SNV Germline	ChrX:129569264	Conflicting classifications of pathogenicity	Lowe syndrome Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications		rs_142398161	2 SubmittersRCV002006192 RCV004045217
NM_000276.4(OCRL):c.2581G>C (p.Ala861Pro)	SNV Germline	ChrX:129589956	Likely pathogenic	Lowe syndrome	Criteria Provided Single Submitter		rs_2124430527	1 SubmittersRCV002040470
NM_000276.4(OCRL):c.2083C>T (p.Arg695Ter)	SNV Germline	ChrX:129576520	Pathogenic/Likely pathogenic	Lowe syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_2124419087	2 SubmittersRCV001925739
NM_000276.4(OCRL):c.904G>T (p.Glu302Ter)	SNV Germline	ChrX:129561258	Pathogenic	Lowe syndrome	Criteria Provided Single Submitter		rs_2124404819	1 SubmittersRCV001956495
NM_000276.4(OCRL):c.1987C>T (p.Arg663Ter)	SNV Germline	ChrX:129576424	Pathogenic	Lowe syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_2124419015	2 SubmittersRCV002250972
NM_000276.4(OCRL):c.1210C>T (p.Gln404Ter)	SNV Germline	ChrX:129562752	Pathogenic	Lowe syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002471387
NM_000276.4(OCRL):c.2581G>A (p.Ala861Thr)	SNV Germline	ChrX:129589956	Pathogenic/Likely pathogenic	Lowe syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002472245
NM_000276.4(OCRL):c.1222C>T (p.Gln408Ter)	SNV Germline	ChrX:129562764	Pathogenic	Lowe syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003041481
NM_000276.4(OCRL):c.1713+1G>A	SNV Germline	ChrX:129575251	Likely pathogenic	Lowe syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002791887
NM_000276.4(OCRL):c.1492T>C (p.Cys498Arg)	SNV Germline	ChrX:129569289	Pathogenic	Lowe syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002875659
NM_000276.4(OCRL):c.1696G>T (p.Glu566Ter)	SNV Germline	ChrX:129575233	Pathogenic	Lowe syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002889535
NM_000276.4(OCRL):c.943C>T (p.Gln315Ter)	SNV Germline	ChrX:129562387	Pathogenic	Lowe syndrome	Criteria Provided Single Submitter			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			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			2 SubmittersRCV003131851 RCV003509777
NM_000276.4(OCRL):c.985A>T (p.Arg329Ter)	SNV Germline	ChrX:129562429	Likely pathogenic	Lowe syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003151704
NM_000276.4(OCRL):c.101A>G (p.Gln34Arg)	SNV Germline	ChrX:129540805	Conflicting classifications of pathogenicity	Condition: not provided Lowe syndrome Nephrolithiasis/nephrocalcinosis	Criteria Provided Conflicting Classifications			3 SubmittersRCV003456577 RCV003509787 RCV004272391
NM_000276.4(OCRL):c.1714-2A>G	SNV Germline	ChrX:129575895	Likely pathogenic	Lowe syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003388760
NM_000276.4(OCRL):c.722G>C (p.Arg241Thr)	SNV Germline	ChrX:129559001	Likely pathogenic	Lowe syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003444434
NM_000276.4(OCRL):c.1879+2T>G	SNV Germline	ChrX:129576064	Likely pathogenic	Lowe syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003510104
NM_000276.4(OCRL):c.1024G>T (p.Glu342Ter)	SNV Germline	ChrX:129562468	Pathogenic	Lowe syndrome	Criteria Provided Single Submitter			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			2 SubmittersRCV003623195 RCV004018001
NM_000276.4(OCRL):c.349+2T>G	SNV Germline	ChrX:129557437	Likely pathogenic	Lowe syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003623439
NM_000276.4(OCRL):c.1478G>A (p.Arg493Gln)	SNV Germline	ChrX:129569275	Likely pathogenic	Lowe syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003622371
NM_000276.4(OCRL):c.2479C>T (p.Gln827Ter)	SNV Germline	ChrX:129589854	Pathogenic	Lowe syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003988750
NM_000276.4(OCRL):c.1780C>T (p.Gln594Ter)	SNV Germline	ChrX:129575963	Likely pathogenic	Lowe syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004547385

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

SNV
Germline

ChrX:129589905

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA255580

rs_387906484

5 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

Likely pathogenic

Dent disease type 2
Lowe syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA266168

rs_137853263

4 SubmittersRCV000011608 RCV000059607 RCV000727111

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

3 SubmittersRCV000059576 RCV003488373

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.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

6 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

Criteria Provided
Conflicting Classifications

CA206830

rs_149646700

3 SubmittersRCV000193379 RCV002057006 RCV004020330

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
Lowe syndrome
Neurodevelopmental delay

Criteria Provided
Multiple Submitters
No Conflicts

CA10603588

rs_776743373

5 SubmittersRCV000338582 RCV000590981 RCV001335218 RCV001855052 RCV002274006

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

Criteria Provided
Conflicting Classifications

CA10511918

rs_768913997

4 SubmittersRCV000502299 RCV002056860 RCV003992307 RCV004023389

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

2 SubmittersRCV000591698 RCV000727227

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

SNV
Germline

ChrX:129575158

Pathogenic

Lowe syndrome
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA414617518

rs_1182741031

5 SubmittersRCV000680054 RCV004025269

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

SNV
Germline

ChrX:129588933

Pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

rs_935956958

1 SubmittersRCV000687544

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

SNV
Germline

ChrX:129558754

Likely pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

rs_1569458883

1 SubmittersRCV000701856

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

SNV
Germline

ChrX:129560596

Conflicting classifications of pathogenicity

Dent disease type 2
Lowe syndrome
Lowe syndrome
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

rs_1388273402

3 SubmittersRCV002493273 RCV003621565 RCV004026853

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

SNV
Germline

ChrX:129588972

Pathogenic

Condition: not provided
Lowe syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1569463775

3 SubmittersRCV000729366 RCV000768436

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1602819835

3 SubmittersRCV000794610 RCV000851318

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

SNV
Germline

ChrX:129589844

Likely pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

rs_1602820970

1 SubmittersRCV000814175

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

SNV
Unknown

ChrX:129569295

Pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

rs_398123287

1 SubmittersRCV000824979

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

SNV
Germline

ChrX:129576416

Pathogenic

Lowe syndrome

No Assertion Criteria Provided

rs_1602802640

1 SubmittersRCV000850186

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

SNV
Germline

ChrX:129576344

Pathogenic

Lowe syndrome

No Assertion Criteria Provided

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
Lowe syndrome
Dent disease type 2
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

rs_376280495

5 SubmittersRCV000937727 RCV001573186 RCV002502871 RCV004029661

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

SNV
Germline

ChrX:129560651

Likely pathogenic

Lowe syndrome

No Assertion Criteria Provided

rs_1602783564

1 SubmittersRCV001029771

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

SNV
Germline

ChrX:129589014

Pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

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

rs_1936131926

1 SubmittersRCV001095682

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

SNV
Germline

ChrX:129558922

Pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1936163310

2 SubmittersRCV001234126 RCV002504318

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

SNV
Germline

ChrX:129567364

Likely pathogenic

Lowe syndrome

No Assertion Criteria Provided

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

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

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

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

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

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

rs_771429717

2 SubmittersRCV001446132 RCV004038442

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

SNV
Germline

ChrX:129588177

Pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

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

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

rs_751678290

3 SubmittersRCV001797876 RCV002541311

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

rs_372298378

3 SubmittersRCV001817516 RCV001869672 RCV004040967

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

SNV
Germline

ChrX:129569364

Pathogenic

Lowe syndrome

No Assertion Criteria Provided

rs_2124412861

1 SubmittersRCV001849667

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

rs_1336177262

2 SubmittersRCV001923104 RCV003994354

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

SNV
Germline

ChrX:129569400

Pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

rs_2124412937

1 SubmittersRCV001960629

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

SNV
Germline

ChrX:129562397

Pathogenic/Likely pathogenic

Lowe syndrome
Lowe syndrome
Dent disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_2124405779

2 SubmittersRCV001950771 RCV002479582

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

rs_756670728

2 SubmittersRCV001908450 RCV002506965

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

SNV
Germline

ChrX:129587119

Likely pathogenic

Lowe syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2124428298

2 SubmittersRCV001977225

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

SNV
Germline

ChrX:129569264

Conflicting classifications of pathogenicity

Lowe syndrome
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

rs_142398161

2 SubmittersRCV002006192 RCV004045217

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

SNV
Germline

ChrX:129589956

Likely pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

rs_2124430527

1 SubmittersRCV002040470

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

SNV
Germline

ChrX:129576520

Pathogenic/Likely pathogenic

Lowe syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2124419087

2 SubmittersRCV001925739

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

SNV
Germline

ChrX:129561258

Pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

rs_2124404819

1 SubmittersRCV001956495

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

SNV
Germline

ChrX:129576424

Pathogenic

Lowe syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2124419015

2 SubmittersRCV002250972

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

SNV
Germline

ChrX:129562752

Pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002471387

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

SNV
Germline

ChrX:129589956

Pathogenic/Likely pathogenic

Lowe syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002472245

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

SNV
Germline

ChrX:129562764

Pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003041481

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

SNV
Germline

ChrX:129575251

Likely pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002791887

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

SNV
Germline

ChrX:129569289

Pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002875659

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

SNV
Germline

ChrX:129575233

Pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002889535

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

SNV
Germline

ChrX:129562387

Pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

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

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

2 SubmittersRCV003131851 RCV003509777

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

SNV
Germline

ChrX:129562429

Likely pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003151704

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

SNV
Germline

ChrX:129540805

Conflicting classifications of pathogenicity

Condition: not provided
Lowe syndrome
Nephrolithiasis/nephrocalcinosis

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003456577 RCV003509787 RCV004272391

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

SNV
Germline

ChrX:129575895

Likely pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003388760

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

SNV
Germline

ChrX:129559001

Likely pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003444434

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

SNV
Germline

ChrX:129576064

Likely pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003510104

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

SNV
Germline

ChrX:129562468

Pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

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

2 SubmittersRCV003623195 RCV004018001

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

SNV
Germline

ChrX:129557437

Likely pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003623439

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

SNV
Germline

ChrX:129569275

Likely pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003622371

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

SNV
Germline

ChrX:129589854

Pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003988750

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

SNV
Germline

ChrX:129575963

Likely pathogenic

Lowe syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004547385