Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_004937.3(CTNS):c.283G>T (p.Gly95Ter)	SNV Germline	Chr17:3655055	Pathogenic	Nephropathic cystinosis	No Assertion Criteria Provided	CA278063	rs_121908124	1 SubmittersRCV000004691
NM_004937.3(CTNS):c.414G>A (p.Trp138Ter)	SNV Germline	Chr17:3655305	Pathogenic	Nephropathic cystinosis Condition: not provided Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis Nephropathic cystinosis Cystinosis CTNS-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA340259	rs_113994205	12 SubmittersRCV000004693 RCV000723832 RCV002512763 RCV005089162 RCV005419858 RCV005222667
NM_004937.3(CTNS):c.506G>A (p.Gly169Asp)	SNV Germline	Chr17:3656531	Likely pathogenic	Nephropathic cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases	Criteria Provided Single Submitter	CA278065	rs_121908126	2 SubmittersRCV000004699 RCV002512764
NM_004937.3(CTNS):c.853-3C>G	SNV Germline	Chr17:3659855	Pathogenic	Ocular cystinosis	No Assertion Criteria Provided	CA340262	rs_113994210	2 SubmittersRCV000004702
NM_004937.3(CTNS):c.589G>A (p.Gly197Arg)	SNV Germline	Chr17:3656703	Pathogenic/Likely pathogenic	Ocular cystinosis Nephropathic cystinosis Condition: not provided Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases Cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Nephropathic cystinosis	Criteria Provided Multiple Submitters No Conflicts	CA278463	rs_113994207	9 SubmittersRCV000004704 RCV000169004 RCV000514820 RCV002512766 RCV005419860 RCV005089163
NC_000017.11:g.3636418G>T	SNV Germline	Chr17:3636418	Pathogenic	Ocular cystinosis	No Assertion Criteria Provided	CA2573054418	rs_887657778	1 SubmittersRCV000004706
NM_004937.3(CTNS):c.1015G>A (p.Gly339Arg)	SNV Germline	Chr17:3660280	Pathogenic	Nephropathic cystinosis Condition: not provided Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases CTNS-related disorder Ocular cystinosis Juvenile nephropathic cystinosis Nephropathic cystinosis Cystinosis	Criteria Provided Multiple Submitters No Conflicts	CA278067	rs_121908127	14 SubmittersRCV000004708 RCV001781181 RCV002512767 RCV003904807 RCV005089164 RCV005419861
NM_004937.3(CTNS):c.969C>G (p.Asn323Lys)	SNV Germline	Chr17:3659974	Pathogenic	Juvenile nephropathic cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases Nephropathic cystinosis	Criteria Provided Multiple Submitters No Conflicts	CA253164	rs_121908128	3 SubmittersRCV000004709 RCV002512768 RCV003466816
NM_004937.3(CTNS):c.329G>T (p.Gly110Val)	SNV Germline	Chr17:3655101	Pathogenic	Cystinosis, atypical nephropathic	No Assertion Criteria Provided	CA116859	rs_121908129	1 SubmittersRCV000004710
NM_004937.3(CTNS):c.416C>T (p.Ser139Phe)	SNV Germline	Chr17:3655307	Pathogenic/Likely pathogenic	Juvenile nephropathic cystinosis Cystinosis, atypical nephropathic Nephropathic cystinosis Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis Condition: not provided Nephropathic cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Cystinosis	Criteria Provided Multiple Submitters No Conflicts	CA116861	rs_267606754	9 SubmittersRCV000004711 RCV000004712 RCV000169140 RCV002512769 RCV005251018 RCV005089165 RCV005419862
NM_004937.3(CTNS):c.473T>C (p.Leu158Pro)	SNV Germline	Chr17:3656498	Pathogenic/Likely pathogenic	Nephropathic cystinosis Condition: not provided Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis Nephropathic cystinosis CTNS-related disorder Cystinosis	Criteria Provided Multiple Submitters No Conflicts	CA342075	rs_113994206	10 SubmittersRCV000020624 RCV001781295 RCV002513140 RCV005089289 RCV004748534 RCV005419867
NM_004937.3(CTNS):c.613G>A (p.Asp205Asn)	SNV Germline	Chr17:3656727	Pathogenic	Nephropathic cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases Condition: not provided Cystinosis	Criteria Provided Multiple Submitters No Conflicts	CA342077	rs_113994208	6 SubmittersRCV000020625 RCV002513141 RCV003105775 RCV005419868
NM_004937.3(CTNS):c.612C>T (p.Asn204=)	SNV Germline	Chr17:3656726	Conflicting classifications of pathogenicity	Condition: not provided not specified Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA248111	rs_200170842	3 SubmittersRCV000180610 RCV001804909 RCV002516824
NM_004937.3(CTNS):c.561+4C>T	SNV Germline	Chr17:3656590	Conflicting classifications of pathogenicity	not specified Ocular cystinosis Nephropathic cystinosis Condition: not provided Cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8291775	rs_111256750	5 SubmittersRCV000243413 RCV000332820 RCV000373428 RCV000726278 RCV005419929 RCV002518595
NM_004937.3(CTNS):c.382C>T (p.Gln128Ter)	SNV Germline	Chr17:3655273	Pathogenic/Likely pathogenic	Nephropathic cystinosis Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis Cystinosis	Criteria Provided Multiple Submitters No Conflicts	CA10590106	rs_550254092	4 SubmittersRCV000989680 RCV002519020 RCV005419943
NM_004937.3(CTNS):c.544T>C (p.Trp182Arg)	SNV Germline	Chr17:3656569	Likely pathogenic	Cystinosis Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Nephropathic cystinosis	Criteria Provided Multiple Submitters No Conflicts	CA8291771	rs_764168489	3 SubmittersRCV005419945 RCV002519021 RCV005090321
NM_004937.3(CTNS):c.922G>A (p.Gly308Arg)	SNV Germline	Chr17:3659927	Pathogenic/Likely pathogenic	Nephropathic cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Nephropathic cystinosis Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis Cystinosis	Criteria Provided Multiple Submitters No Conflicts	CA8291955	rs_746307931	7 SubmittersRCV002051832 RCV005090322 RCV002518787 RCV005419946
NM_004937.3(CTNS):c.969C>T (p.Asn323=)	SNV Germline	Chr17:3659974	Conflicting classifications of pathogenicity	Condition: not provided Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases Cystinosis	Criteria Provided Conflicting Classifications	CA8291966	rs_121908128	3 SubmittersRCV000329315 RCV002519145 RCV005419948
NM_004937.3(CTNS):c.792G>A (p.Gln264=)	SNV Germline	Chr17:3658115	Conflicting classifications of pathogenicity	Condition: not provided Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10606829	rs_148662747	2 SubmittersRCV000273491 RCV003765684
NM_004937.3(CTNS):c.1083G>A (p.Pro361=)	SNV Germline	Chr17:3660348	Conflicting classifications of pathogenicity	Nephropathic cystinosis Ocular cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8292032	rs_371189196	2 SubmittersRCV000276209 RCV000298054 RCV002522946
NM_004937.3(CTNS):c.94G>A (p.Val32Ile)	SNV Germline	Chr17:3647476	Conflicting classifications of pathogenicity	Nephropathic cystinosis Condition: not provided Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases Inborn genetic diseases Cystinosis	Criteria Provided Conflicting Classifications	CA8291552	rs_146684402	5 SubmittersRCV000264244 RCV000757141 RCV002522934 RCV003165863 RCV005420134
NM_004937.3(CTNS):c.116C>T (p.Ser39Leu)	SNV Germline	Chr17:3647498	Conflicting classifications of pathogenicity	Nephropathic cystinosis not specified Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases Ocular cystinosis Condition: not provided CTNS-related disorder Cystinosis	Criteria Provided Conflicting Classifications	CA8291557	rs_144751390	9 SubmittersRCV000325694 RCV002265730 RCV002521102 RCV000382522 RCV001532291 RCV003910226 RCV005420136
NM_004937.3(CTNS):c.444G>A (p.Met148Ile)	SNV Germline	Chr17:3655335	Conflicting classifications of pathogenicity	Ocular cystinosis Nephropathic cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases Condition: not provided Ocular cystinosis Juvenile nephropathic cystinosis Nephropathic cystinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8291713	rs_199977728	6 SubmittersRCV000339986 RCV000403908 RCV002522939 RCV000996452 RCV005090488 RCV002521103
NM_004937.3(CTNS):c.853-15G>A	SNV Germline	Chr17:3659843	Conflicting classifications of pathogenicity	Ocular cystinosis Nephropathic cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8291938	rs_376050426	2 SubmittersRCV000285827 RCV000345187 RCV002522943
NM_004937.3(CTNS):c.363C>T (p.Ser121=)	SNV Germline	Chr17:3655254	Conflicting classifications of pathogenicity	Ocular cystinosis Nephropathic cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8291698	rs_746463725	2 SubmittersRCV000278919 RCV000336575 RCV003765874
NM_004937.3(CTNS):c.695G>A (p.Arg232His)	SNV Germline	Chr17:3658018	Conflicting classifications of pathogenicity	Ocular cystinosis Nephropathic cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases Inborn genetic diseases Cystinosis	Criteria Provided Conflicting Classifications	CA8291860	rs_142641674	4 SubmittersRCV000284539 RCV000374508 RCV002522942 RCV005318372 RCV005420137
NM_004937.3(CTNS):c.329+2T>C	SNV Unknown	Chr17:3655103	Pathogenic	Nephropathic cystinosis	Criteria Provided Single Submitter	CA16041834	rs_955833453	2 SubmittersRCV000410250
NM_004937.3(CTNS):c.681+2T>C	SNV Unknown	Chr17:3656797	Likely pathogenic	Nephropathic cystinosis	No Assertion Criteria Provided	CA16041836	rs_1057516723	1 SubmittersRCV000410327
NM_004937.3(CTNS):c.682-1G>A	SNV Unknown	Chr17:3658004	Likely pathogenic	Nephropathic cystinosis	No Assertion Criteria Provided	CA16041837	rs_1057516771	1 SubmittersRCV000410717
NM_004937.3(CTNS):c.734G>A (p.Trp245Ter)	SNV Unknown	Chr17:3658057	Pathogenic	Nephropathic cystinosis	Criteria Provided Single Submitter	CA16041838	rs_763089013	2 SubmittersRCV000411177
NM_004937.3(CTNS):c.1102T>C (p.Ter368Gln)	SNV Unknown	Chr17:3660367	Likely pathogenic	Nephropathic cystinosis	No Assertion Criteria Provided	CA16041839	rs_1057517330	1 SubmittersRCV000411915
NM_004937.3(CTNS):c.944A>G (p.Gln315Arg)	SNV Germline	Chr17:3659949	Likely pathogenic	Condition: not provided Nephropathic cystinosis	Criteria Provided Single Submitter	CA16620398	rs_1064795587	2 SubmittersRCV000479734 RCV000675105
NM_004937.3(CTNS):c.853-2A>G	SNV Germline	Chr17:3659856	Pathogenic/Likely pathogenic	Nephropathic cystinosis Cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Nephropathic cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA397692891	rs_1475322504	5 SubmittersRCV000666666 RCV005420215 RCV005091543 RCV005223021
NM_004937.3(CTNS):c.480C>T (p.Phe160=)	SNV Germline	Chr17:3656505	Conflicting classifications of pathogenicity	not specified Ocular cystinosis Nephropathic cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases Cystinosis	Criteria Provided Conflicting Classifications	CA8291753	rs_147565118	4 SubmittersRCV000588707 RCV001123961 RCV001123960 RCV002530935 RCV005420213
NM_004937.3(CTNS):c.870C>G (p.Tyr290Ter)	SNV Germline	Chr17:3659875	Pathogenic/Likely pathogenic	Cystinosis Nephropathic cystinosis	Criteria Provided Multiple Submitters No Conflicts	CA397692982	rs_776842972	3 SubmittersRCV005420218 RCV003465352
NM_004937.3(CTNS):c.971-12G>A	SNV Germline	Chr17:3660224	Pathogenic	Nephropathic cystinosis Infantile nephropathic cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases Cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Nephropathic cystinosis	Criteria Provided Multiple Submitters No Conflicts	CA8291997	rs_375952052	8 SubmittersRCV000664494 RCV001843534 RCV002528837 RCV005420221 RCV005091847
NM_004937.3(CTNS):c.-19-1G>A	SNV Unknown	Chr17:3640187	Likely pathogenic	Nephropathic cystinosis	Criteria Provided Single Submitter	CA658824066	rs_1555558034	2 SubmittersRCV000667805
NM_004937.3(CTNS):c.62-2A>G	SNV Unknown	Chr17:3647442	Likely pathogenic	Nephropathic cystinosis	No Assertion Criteria Provided	CA397686973	rs_1555560637	1 SubmittersRCV000672882
NM_004937.3(CTNS):c.73A>T (p.Ser25Cys)	SNV Unknown	Chr17:3647455	Likely pathogenic	Nephropathic cystinosis	Criteria Provided Single Submitter	CA8291547	rs_777367316	2 SubmittersRCV000670911
NM_004937.3(CTNS):c.61+1G>A	SNV Unknown	Chr17:3640268	Likely pathogenic	Nephropathic cystinosis	No Assertion Criteria Provided	CA397686490	rs_1555558116	1 SubmittersRCV000674116
NM_004937.3(CTNS):c.681G>A (p.Glu227=)	SNV Germline	Chr17:3656795	Pathogenic	Nephropathic cystinosis Condition: not provided Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis Nephropathic cystinosis Cystinosis	Criteria Provided Multiple Submitters No Conflicts	CA497462207	rs_778414542	10 SubmittersRCV000668750 RCV001543503 RCV002531208 RCV005091938 RCV005420225
NM_004937.3(CTNS):c.451A>G (p.Arg151Gly)	SNV Unknown	Chr17:3655342	Likely pathogenic	Nephropathic cystinosis	No Assertion Criteria Provided	CA397690832	rs_1555563010	1 SubmittersRCV000672610
NM_004937.3(CTNS):c.853-1G>A	SNV Germline	Chr17:3659857	Likely pathogenic	Nephropathic cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases	Criteria Provided Single Submitter	CA397692898	rs_1555564588	2 SubmittersRCV000673974 RCV003768007
NM_004937.3(CTNS):c.890G>A (p.Trp297Ter)	SNV Germline	Chr17:3659895	Pathogenic	Nephropathic cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA287019849	rs_917630768	3 SubmittersRCV000666309 RCV002530676
NM_004937.3(CTNS):c.225+1G>A	SNV Germline	Chr17:3648932	Pathogenic	Nephropathic cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases	Criteria Provided Single Submitter	CA397688324	rs_1555561049	2 SubmittersRCV000673312 RCV002531336
NM_004937.3(CTNS):c.518A>G (p.Tyr173Cys)	SNV Germline	Chr17:3656543	Pathogenic	Nephropathic cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases	Criteria Provided Single Submitter	CA397691331	rs_1555563446	2 SubmittersRCV000674853 RCV003768016
NM_004937.3(CTNS):c.1082C>T (p.Pro361Leu)	SNV Germline	Chr17:3660347	Conflicting classifications of pathogenicity	Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases Inborn genetic diseases Cystinosis	Criteria Provided Conflicting Classifications	CA8292031	rs_560868487	3 SubmittersRCV002533448 RCV004609495 RCV005420230
NM_004937.3(CTNS):c.422C>T (p.Ser141Phe)	SNV Germline	Chr17:3655313	Pathogenic/Likely pathogenic	Condition: not provided Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases Nephropathic cystinosis Cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Nephropathic cystinosis	Criteria Provided Multiple Submitters No Conflicts	CA397690769	rs_1436441738	6 SubmittersRCV001816874 RCV002537248 RCV003338814 RCV005420249 RCV005092413
NM_004937.3(CTNS):c.429C>A (p.Tyr143Ter)	SNV Germline	Chr17:3655320	Pathogenic/Likely pathogenic	Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases Nephropathic cystinosis	Criteria Provided Multiple Submitters No Conflicts	CA397690783	rs_1597647930	2 SubmittersRCV002537328 RCV003472408
NM_004937.3(CTNS):c.140+1G>T	SNV Germline	Chr17:3647523	Pathogenic/Likely pathogenic	Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis Nephropathic cystinosis	Criteria Provided Multiple Submitters No Conflicts	CA397687213	rs_1567701415	2 SubmittersRCV002536032 RCV005092459
NM_004937.3(CTNS):c.682-1G>T	SNV Germline	Chr17:3658004	Pathogenic/Likely pathogenic	Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases Nephropathic cystinosis Condition: not provided Ocular cystinosis Juvenile nephropathic cystinosis Nephropathic cystinosis	Criteria Provided Multiple Submitters No Conflicts	CA397692162	rs_1057516771	4 SubmittersRCV002535938 RCV003473516 RCV004702460 RCV005092452
NM_004937.3(CTNS):c.62-1G>A	SNV Germline	Chr17:3647443	Pathogenic	Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases	Criteria Provided Single Submitter	CA397686976	rs_1597619719	1 SubmittersRCV002537249
NM_004937.3(CTNS):c.285A>T (p.Gly95=)	SNV Germline	Chr17:3655057	Conflicting classifications of pathogenicity	Ocular cystinosis Nephropathic cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases Cystinosis	Criteria Provided Conflicting Classifications	CA8291652	rs_373998956	3 SubmittersRCV001126520 RCV001126521 RCV002540064 RCV005420257
NM_004937.3(CTNS):c.364G>A (p.Ala122Thr)	SNV Germline	Chr17:3655255	Conflicting classifications of pathogenicity	Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases Condition: not provided Ocular cystinosis Juvenile nephropathic cystinosis Nephropathic cystinosis Cystinosis	Criteria Provided Conflicting Classifications	CA8291699	rs_187396540	4 SubmittersRCV002539334 RCV003145228 RCV005092628 RCV005420254
NM_004937.3(CTNS):c.510C>T (p.Phe170=)	SNV Germline	Chr17:3656535	Conflicting classifications of pathogenicity	Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis Nephropathic cystinosis Cystinosis	Criteria Provided Conflicting Classifications	CA8291760	rs_747488464	3 SubmittersRCV002545975 RCV005092897 RCV005420269
NM_004937.3(CTNS):c.691C>T (p.Gln231Ter)	SNV Germline	Chr17:3658014	Pathogenic/Likely pathogenic	Nephropathic cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Nephropathic cystinosis CTNS-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA397692197	rs_1463026342	4 SubmittersRCV004569836 RCV005092986 RCV004731074 RCV005620401
NM_004937.3(CTNS):c.61+5G>A	SNV Germline	Chr17:3640272	Pathogenic	Nephropathic cystinosis Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Nephropathic cystinosis	Criteria Provided Multiple Submitters No Conflicts	CA624536858	rs_1407498555	3 SubmittersRCV003467715 RCV002551408 RCV005093307
NM_004937.3(CTNS):c.306T>C (p.His102=)	SNV Germline	Chr17:3655078	Conflicting classifications of pathogenicity	Ocular cystinosis Nephropathic cystinosis Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis	Criteria Provided Conflicting Classifications	CA497661129	rs_2076094603	2 SubmittersRCV001128584 RCV001126522 RCV002556755
NM_004937.3(CTNS):c.661G>A (p.Val221Met)	SNV Germline	Chr17:3656775	Conflicting classifications of pathogenicity	Ocular cystinosis Nephropathic cystinosis Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Nephropathic cystinosis	Criteria Provided Conflicting Classifications	CA8291811	rs_138270433	3 SubmittersRCV001126641 RCV001126642 RCV002558246 RCV005093584
NM_004937.3(CTNS):c.699G>A (p.Val233=)	SNV Germline	Chr17:3658022	Conflicting classifications of pathogenicity	Nephropathic cystinosis Ocular cystinosis Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis	Criteria Provided Conflicting Classifications	CA497464459	rs_2076195866	2 SubmittersRCV001127034 RCV001127033 RCV002556770
NM_004937.3(CTNS):c.730G>A (p.Ala244Thr)	SNV Germline	Chr17:3658053	Conflicting classifications of pathogenicity	Ocular cystinosis Nephropathic cystinosis Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis	Criteria Provided Conflicting Classifications	CA8291875	rs_559490847	2 SubmittersRCV001127035 RCV001127036 RCV002556771
NM_004937.3(CTNS):c.1071C>T (p.Tyr357=)	SNV Germline	Chr17:3660336	Conflicting classifications of pathogenicity	Nephropathic cystinosis Ocular cystinosis Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis	Criteria Provided Conflicting Classifications	CA497466761	rs_1210146657	2 SubmittersRCV001124065 RCV001124066 RCV005213462
NM_004937.3(CTNS):c.433C>T (p.Gln145Ter)	SNV Germline	Chr17:3655324	Pathogenic	Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases Cystinosis	Criteria Provided Single Submitter	CA397690789	rs_2076101632	2 SubmittersRCV002561138 RCV005420380
NM_004937.3(CTNS):c.141-1G>A	SNV Germline	Chr17:3648846	Likely pathogenic	Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases	Criteria Provided Single Submitter	CA397687756	rs_2075906916	1 SubmittersRCV002561165
NM_004937.3(CTNS):c.62-1G>T	SNV Germline	Chr17:3647443	Pathogenic	Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases	Criteria Provided Single Submitter	CA397686978	rs_1597619719	1 SubmittersRCV002561869
NM_004937.3(CTNS):c.790C>T (p.Gln264Ter)	SNV Germline	Chr17:3658113	Pathogenic	Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases	Criteria Provided Single Submitter	CA397692553	rs_2076198741	1 SubmittersRCV002563769
NM_004937.3(CTNS):c.140+2T>C	SNV Germline	Chr17:3647524	Pathogenic/Likely pathogenic	Nephropathic cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA397687220	rs_2075872773	2 SubmittersRCV003473798 RCV002563779
NM_004937.3(CTNS):c.681+1G>A	SNV Germline	Chr17:3656796	Pathogenic	Nephropathic cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis Nephropathic cystinosis Cystinosis	Criteria Provided Multiple Submitters No Conflicts	CA8291818	rs_749317721	6 SubmittersRCV003473819 RCV002563996 RCV005094163 RCV005420384
NM_004937.3(CTNS):c.300T>A (p.Tyr100Ter)	SNV Germline	Chr17:3655072	Pathogenic/Likely pathogenic	Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis Nephropathic cystinosis	Criteria Provided Multiple Submitters No Conflicts	CA397690224	rs_376042415	2 SubmittersRCV003770373 RCV005094261
NM_004937.3(CTNS):c.402C>G (p.Tyr134Ter)	SNV Unknown	Chr17:3655293	Likely pathogenic	Ocular cystinosis Juvenile nephropathic cystinosis Nephropathic cystinosis	Criteria Provided Single Submitter	CA397690728	rs_2076100759	1 SubmittersRCV005094262
NM_004937.3(CTNS):c.634G>A (p.Ala212Thr)	SNV Germline	Chr17:3656748	Conflicting classifications of pathogenicity	Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases Cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Nephropathic cystinosis	Criteria Provided Conflicting Classifications	CA8291804	rs_768600603	3 SubmittersRCV002542900 RCV005420397 RCV005094309
NM_004937.3(CTNS):c.635C>T (p.Ala212Val)	SNV Germline	Chr17:3656749	Pathogenic/Likely pathogenic	Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis Nephropathic cystinosis Cystinosis	Criteria Provided Multiple Submitters No Conflicts	CA8291805	rs_776658046	3 SubmittersRCV002543797 RCV005094392 RCV005420398
NM_004937.3(CTNS):c.971-1G>C	SNV Germline	Chr17:3660235	Likely pathogenic	Nephropathic cystinosis	No Assertion Criteria Provided	CA397693965	rs_2142982540	1 SubmittersRCV001375476
NM_004937.3(CTNS):c.809C>T (p.Ser270Phe)	SNV Germline	Chr17:3658132	Likely pathogenic	Inborn genetic diseases Juvenile nephropathic cystinosis Ocular cystinosis	Criteria Provided Single Submitter	CA397692606	rs_2150925336	1 SubmittersRCV002550249
NM_004937.3(CTNS):c.839A>G (p.Lys280Arg)	SNV Germline	Chr17:3658162	Pathogenic/Likely pathogenic	Inborn genetic diseases Juvenile nephropathic cystinosis Ocular cystinosis Nephropathic cystinosis Cystinosis	Criteria Provided Multiple Submitters No Conflicts	CA397692730	rs_2150925451	3 SubmittersRCV002550250 RCV003469636 RCV005420402
NM_004937.3(CTNS):c.852+1G>A	SNV Germline	Chr17:3658176	Likely pathogenic	Inborn genetic diseases Juvenile nephropathic cystinosis Ocular cystinosis	Criteria Provided Single Submitter	CA397692774	rs_2150925483	1 SubmittersRCV003104056
NM_004937.3(CTNS):c.61G>T (p.Glu21Ter)	SNV Germline	Chr17:3640267	Pathogenic/Likely pathogenic	Inborn genetic diseases Juvenile nephropathic cystinosis Ocular cystinosis Nephropathic cystinosis	Criteria Provided Multiple Submitters No Conflicts	CA397686485	rs_2150889009	2 SubmittersRCV002551566 RCV003473988
NM_004937.3(CTNS):c.274C>T (p.Gln92Ter)	SNV Germline	Chr17:3655046	Pathogenic	Inborn genetic diseases Juvenile nephropathic cystinosis Ocular cystinosis	Criteria Provided Single Submitter	CA397690134	rs_2150919035	1 SubmittersRCV002551536
NM_004937.3(CTNS):c.735G>A (p.Trp245Ter)	SNV Germline	Chr17:3658058	Pathogenic	Inborn genetic diseases Juvenile nephropathic cystinosis Ocular cystinosis	Criteria Provided Single Submitter	CA397692368	rs_2150925108	1 SubmittersRCV002551580
NM_004937.3(CTNS):c.682-9C>T	SNV Germline	Chr17:3657996	Conflicting classifications of pathogenicity	Inborn genetic diseases Juvenile nephropathic cystinosis Ocular cystinosis See cases	Criteria Provided Conflicting Classifications	CA287018683	rs_943621505	2 SubmittersRCV002551591 RCV002252680
NM_004937.3(CTNS):c.685G>A (p.Gly229Ser)	SNV Germline	Chr17:3658008	Conflicting classifications of pathogenicity	not specified Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis Nephropathic cystinosis Ocular cystinosis Juvenile nephropathic cystinosis	Criteria Provided Conflicting Classifications	CA8291857	rs_200336280	3 SubmittersRCV001844615 RCV002543318 RCV005095314
NM_004937.3(CTNS):c.61+2T>C	SNV Germline	Chr17:3640269	Likely pathogenic	Inborn genetic diseases Juvenile nephropathic cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Ocular cystinosis Nephropathic cystinosis Nephropathic cystinosis	Criteria Provided Multiple Submitters No Conflicts	CA8291529	rs_767289120	3 SubmittersRCV002675467 RCV005095521 RCV003475282
NM_004937.3(CTNS):c.546G>T (p.Trp182Cys)	SNV Germline	Chr17:3656571	Likely pathogenic	Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis Nephropathic cystinosis Ocular cystinosis Juvenile nephropathic cystinosis	Criteria Provided Multiple Submitters No Conflicts	CA397691391	rs_2150922764	2 SubmittersRCV002571228 RCV005095489
NM_004937.3(CTNS):c.697G>A (p.Val233Met)	SNV Germline	Chr17:3658020	Conflicting classifications of pathogenicity	Inborn genetic diseases Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis Nephropathic cystinosis Ocular cystinosis Juvenile nephropathic cystinosis	Criteria Provided Conflicting Classifications	CA8291863	rs_201058200	3 SubmittersRCV002552954 RCV002552955 RCV005095386
NM_004937.3(CTNS):c.1A>T (p.Met1Leu)	SNV Germline	Chr17:3640207	Pathogenic	Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis	Criteria Provided Single Submitter	CA397686137	rs_2075650925	1 SubmittersRCV002554156
NM_004937.3(CTNS):c.449G>A (p.Trp150Ter)	SNV Germline	Chr17:3655340	Pathogenic	Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis	Criteria Provided Single Submitter	CA397690828	rs_2076101974	1 SubmittersRCV002553659
NM_004937.3(CTNS):c.970+5G>A	SNV Germline	Chr17:3659980	Pathogenic/Likely pathogenic	Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis Nephropathic cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Nephropathic cystinosis	Criteria Provided Multiple Submitters No Conflicts	CA8291968	rs_753451110	3 SubmittersRCV002563619 RCV005095475 RCV005406228
NM_004937.3(CTNS):c.922G>C (p.Gly308Arg)	SNV Germline	Chr17:3659927	Pathogenic	Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis	Criteria Provided Single Submitter	CA397693194	rs_746307931	1 SubmittersRCV002569141
NM_004937.3(CTNS):c.61+1G>T	SNV Germline	Chr17:3640268	Likely pathogenic	Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis	Criteria Provided Single Submitter	CA397686486	rs_1555558116	1 SubmittersRCV002592624
NM_004937.3(CTNS):c.80C>A (p.Thr27Asn)	SNV Germline	Chr17:3647462	Conflicting classifications of pathogenicity	Inborn genetic diseases Juvenile nephropathic cystinosis Ocular cystinosis Inborn genetic diseases Juvenile nephropathic cystinosis Ocular cystinosis Nephropathic cystinosis	Criteria Provided Conflicting Classifications	CA8291548	rs_576315457	3 SubmittersRCV003007140 RCV004612140 RCV005095666
NM_004937.3(CTNS):c.565C>T (p.Gln189Ter)	SNV Germline	Chr17:3656679	Pathogenic/Likely pathogenic	Inborn genetic diseases Juvenile nephropathic cystinosis Ocular cystinosis Nephropathic cystinosis Cystinosis	Criteria Provided Multiple Submitters No Conflicts	CA397691445	rs_1597654770	3 SubmittersRCV003096120 RCV003471301 RCV005420424
NM_004937.3(CTNS):c.140+1G>C	SNV Germline	Chr17:3647523	Likely pathogenic	Nephropathic cystinosis	Criteria Provided Multiple Submitters No Conflicts	CA397687210	rs_1567701415	2 SubmittersRCV002283924
NM_004937.3(CTNS):c.286C>T (p.Gln96Ter)	SNV Germline	Chr17:3655058	Pathogenic/Likely pathogenic	Inborn genetic diseases Juvenile nephropathic cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Ocular cystinosis Nephropathic cystinosis Nephropathic cystinosis	Criteria Provided Multiple Submitters No Conflicts	CA397690178	rs_2507742346	3 SubmittersRCV003099148 RCV005096130 RCV004572228
NM_004937.3(CTNS):c.672C>A (p.Cys224Ter)	SNV Unknown	Chr17:3656786	Likely pathogenic	Juvenile nephropathic cystinosis Ocular cystinosis Nephropathic cystinosis	Criteria Provided Single Submitter	CA397691859	rs_2507764701	1 SubmittersRCV005096134
NM_004937.3(CTNS):c.715G>A (p.Gly239Ser)	SNV Germline	Chr17:3658038	Conflicting classifications of pathogenicity	Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8291868	rs_374075160	2 SubmittersRCV003076840 RCV004070410
NM_004937.3(CTNS):c.923G>T (p.Gly308Val)	SNV Germline	Chr17:3659928	Pathogenic	Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis	Criteria Provided Single Submitter	CA287019887	rs_908965524	1 SubmittersRCV003041267
NM_004937.3(CTNS):c.141-24T>C	SNV Germline	Chr17:3648823	Pathogenic	Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis Nephropathic cystinosis	Criteria Provided Multiple Submitters No Conflicts	CA2580093509	rs_2507696018	2 SubmittersRCV002612623 RCV005059171
NM_004937.3(CTNS):c.226-1G>C	SNV Germline	Chr17:3654997	Likely pathogenic	Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis	Criteria Provided Single Submitter	CA397689975	rs_2507741403	1 SubmittersRCV002829960
NM_004937.3(CTNS):c.415T>C (p.Ser139Pro)	SNV Germline	Chr17:3655306	Conflicting classifications of pathogenicity	Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis not specified	Criteria Provided Conflicting Classifications	CA397690753	rs_2507745639	2 SubmittersRCV002876039 RCV004765579
NM_004937.3(CTNS):c.1045T>G (p.Phe349Val)	SNV Germline	Chr17:3660310	Conflicting classifications of pathogenicity	Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis Nephropathic cystinosis	Criteria Provided Conflicting Classifications	CA8292023	rs_748094459	2 SubmittersRCV002962300 RCV003883204
NM_004937.3(CTNS):c.850C>T (p.Gln284Ter)	SNV Germline	Chr17:3658173	Likely pathogenic	Cystinosis	Criteria Provided Single Submitter	CA397692768	rs_2507777392	1 SubmittersRCV005420441
NM_004937.3(CTNS):c.225+3A>T	SNV Germline	Chr17:3648934	Pathogenic/Likely pathogenic	Nephropathic cystinosis Ocular cystinosis Inborn genetic diseases Juvenile nephropathic cystinosis	Criteria Provided Multiple Submitters No Conflicts	CA913010123	rs_2075909295	2 SubmittersRCV003475800 RCV003779167
NM_004937.3(CTNS):c.395G>A (p.Trp132Ter)	SNV Unknown	Chr17:3655286	Likely pathogenic	Nephropathic cystinosis	Criteria Provided Single Submitter	CA397690709	rs_2076100543	1 SubmittersRCV003475802
NM_004937.3(CTNS):c.530A>G (p.Asn177Ser)	SNV Unknown	Chr17:3656555	Likely pathogenic	Nephropathic cystinosis	Criteria Provided Single Submitter	CA397691358	rs_2507761348	1 SubmittersRCV003475804
NM_004937.3(CTNS):c.977G>A (p.Trp326Ter)	SNV Unknown	Chr17:3660242	Likely pathogenic	Nephropathic cystinosis	Criteria Provided Single Submitter	CA397693999	rs_1431410587	1 SubmittersRCV003475807
NM_004937.3(CTNS):c.546G>A (p.Trp182Ter)	SNV Unknown	Chr17:3656571	Likely pathogenic	Nephropathic cystinosis	Criteria Provided Single Submitter	CA397691389	rs_2150922764	1 SubmittersRCV003475811
NM_004937.3(CTNS):c.864C>A (p.Asn288Lys)	SNV Unknown	Chr17:3659869	Likely pathogenic	Nephropathic cystinosis	Criteria Provided Single Submitter	CA397692947	rs_2076245419	1 SubmittersRCV003475812
NM_004937.3(CTNS):c.226-1G>A	SNV Unknown	Chr17:3654997	Likely pathogenic	Nephropathic cystinosis	Criteria Provided Single Submitter	CA397689976	rs_2507741403	1 SubmittersRCV003475814
NM_004937.3(CTNS):c.15G>A (p.Trp5Ter)	SNV Germline	Chr17:3640221	Pathogenic	Nephropathic cystinosis Ocular cystinosis Inborn genetic diseases Juvenile nephropathic cystinosis	Criteria Provided Multiple Submitters No Conflicts	CA397686229	rs_1390032475	2 SubmittersRCV003475816 RCV003779169
NM_004937.3(CTNS):c.562-2A>G	SNV Unknown	Chr17:3656674	Likely pathogenic	Nephropathic cystinosis	Criteria Provided Single Submitter	CA397691431	rs_2507762791	1 SubmittersRCV003468560
NM_004937.3(CTNS):c.955C>T (p.Gln319Ter)	SNV Unknown	Chr17:3659960	Likely pathogenic	Nephropathic cystinosis	Criteria Provided Single Submitter	CA397693330	rs_2142981652	1 SubmittersRCV003468561
NM_004937.3(CTNS):c.785G>A (p.Trp262Ter)	SNV Germline	Chr17:3658108	Likely pathogenic	Ocular cystinosis	Criteria Provided Single Submitter	CA397692540	rs_2507776613	1 SubmittersRCV003455885
NM_004937.3(CTNS):c.1054C>T (p.Gln352Ter)	SNV Germline	Chr17:3660319	Pathogenic	Nephropathic cystinosis	Criteria Provided Single Submitter		rs_2507794658	1 SubmittersRCV004577615
NM_004937.3(CTNS):c.517T>C (p.Tyr173His)	SNV Germline	Chr17:3656542	Likely pathogenic	Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis Nephropathic cystinosis	Criteria Provided Multiple Submitters No Conflicts	CA397691329	rs_2076151594	2 SubmittersRCV003783688 RCV004527465
NM_004937.3(CTNS):c.562-1G>C	SNV Germline	Chr17:3656675	Likely pathogenic	Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis	Criteria Provided Single Submitter	CA397691434	rs_2507762815	1 SubmittersRCV003783689
NM_004937.3(CTNS):c.943C>T (p.Gln315Ter)	SNV Germline	Chr17:3659948	Pathogenic	Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis	Criteria Provided Single Submitter	CA397693278	rs_1338364389	1 SubmittersRCV003783690
NM_004937.3(CTNS):c.225+5G>A	SNV Germline	Chr17:3648936	Likely pathogenic	Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis	Criteria Provided Single Submitter	CA2243994642	rs_1463544406	1 SubmittersRCV003788406
NM_004937.3(CTNS):c.140+1G>A	SNV Germline	Chr17:3647523	Pathogenic	Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis	Criteria Provided Single Submitter	CA397687207	rs_1567701415	1 SubmittersRCV003799064
NM_004937.3(CTNS):c.682-2A>C	SNV Germline	Chr17:3658003	Pathogenic	Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis	Criteria Provided Single Submitter	CA397692155	rs_760905567	1 SubmittersRCV003802290
NM_004937.3(CTNS):c.545G>A (p.Trp182Ter)	SNV Germline	Chr17:3656570	Pathogenic	Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis	Criteria Provided Single Submitter	CA397691388	rs_2507761574	1 SubmittersRCV003812815
NM_004937.3(CTNS):c.462-1G>A	SNV Germline	Chr17:3656486	Likely pathogenic	Nephropathic cystinosis	No Assertion Criteria Provided	CA397691216	rs_2507760503	1 SubmittersRCV003885436
NM_004937.3(CTNS):c.225+1G>C	SNV Germline	Chr17:3648932	Likely pathogenic	Nephropathic cystinosis	Criteria Provided Single Submitter		rs_1555561049	1 SubmittersRCV004576124
NM_004937.3(CTNS):c.450G>A (p.Trp150Ter)	SNV Unknown	Chr17:3655341	Pathogenic	Nephropathic cystinosis	Criteria Provided Single Submitter		rs_2507745996	1 SubmittersRCV004575711
NM_004937.3(CTNS):c.971-2A>G	SNV Unknown	Chr17:3660234	Likely pathogenic	Nephropathic cystinosis	Criteria Provided Single Submitter		rs_2507793584	1 SubmittersRCV004575712
NM_004937.3(CTNS):c.462-2A>C	SNV Germline	Chr17:3656485	Pathogenic	Nephropathic cystinosis	Criteria Provided Single Submitter			1 SubmittersRCV004775650
NM_004937.3(CTNS):c.61+5G>C	SNV Germline	Chr17:3640272	Likely pathogenic	Ocular cystinosis Juvenile nephropathic cystinosis Nephropathic cystinosis	Criteria Provided Single Submitter			1 SubmittersRCV005112655
NM_004937.3(CTNS):c.429C>G (p.Tyr143Ter)	SNV Germline	Chr17:3655320	Likely pathogenic	Ocular cystinosis Juvenile nephropathic cystinosis Nephropathic cystinosis	Criteria Provided Single Submitter			1 SubmittersRCV005112659
NM_004937.3(CTNS):c.647C>G (p.Thr216Arg)	SNV Germline	Chr17:3656761	Likely pathogenic	Ocular cystinosis Juvenile nephropathic cystinosis Nephropathic cystinosis	Criteria Provided Single Submitter			1 SubmittersRCV005112662
NM_004937.3(CTNS):c.923G>C (p.Gly308Ala)	SNV Germline	Chr17:3659928	Likely pathogenic	Ocular cystinosis Juvenile nephropathic cystinosis Nephropathic cystinosis Cystinosis	Criteria Provided Single Submitter			2 SubmittersRCV005112668 RCV005618416
NM_004937.3(CTNS):c.1A>G (p.Met1Val)	SNV Germline	Chr17:3640207	Pathogenic	Inborn genetic diseases Juvenile nephropathic cystinosis Ocular cystinosis	Criteria Provided Single Submitter			1 SubmittersRCV005210965
NM_004937.3(CTNS):c.329+1G>A	SNV Germline	Chr17:3655102	Pathogenic	Inborn genetic diseases Juvenile nephropathic cystinosis Ocular cystinosis	Criteria Provided Single Submitter			1 SubmittersRCV005211253

SNV
Germline

Chr17:3655055

Pathogenic

Nephropathic cystinosis

No Assertion Criteria Provided

CA278063

rs_121908124

1 SubmittersRCV000004691

NM_004937.3(CTNS):c.414G>A (p.Trp138Ter)

SNV
Germline

Chr17:3655305

Pathogenic

Nephropathic cystinosis
Condition: not provided
Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases
Ocular cystinosis
Juvenile nephropathic cystinosis
Nephropathic cystinosis
Cystinosis
CTNS-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA340259

rs_113994205

12 SubmittersRCV000004693 RCV000723832 RCV002512763 RCV005089162 RCV005419858 RCV005222667

NM_004937.3(CTNS):c.506G>A (p.Gly169Asp)

SNV
Germline

Chr17:3656531

Likely pathogenic

Nephropathic cystinosis
Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases

Criteria Provided
Single Submitter

CA278065

rs_121908126

2 SubmittersRCV000004699 RCV002512764

NM_004937.3(CTNS):c.853-3C>G

SNV
Germline

Chr17:3659855

Pathogenic

Ocular cystinosis

No Assertion Criteria Provided

CA340262

rs_113994210

2 SubmittersRCV000004702

NM_004937.3(CTNS):c.589G>A (p.Gly197Arg)

SNV
Germline

Chr17:3656703

Pathogenic/Likely pathogenic

Ocular cystinosis
Nephropathic cystinosis
Condition: not provided
Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases
Cystinosis
Ocular cystinosis
Juvenile nephropathic cystinosis
Nephropathic cystinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA278463

rs_113994207

9 SubmittersRCV000004704 RCV000169004 RCV000514820 RCV002512766 RCV005419860 RCV005089163

NC_000017.11:g.3636418G>T

SNV
Germline

Chr17:3636418

Pathogenic

Ocular cystinosis

No Assertion Criteria Provided

CA2573054418

rs_887657778

1 SubmittersRCV000004706

NM_004937.3(CTNS):c.1015G>A (p.Gly339Arg)

SNV
Germline

Chr17:3660280

Pathogenic

Nephropathic cystinosis
Condition: not provided
Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases
CTNS-related disorder
Ocular cystinosis
Juvenile nephropathic cystinosis
Nephropathic cystinosis
Cystinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA278067

rs_121908127

14 SubmittersRCV000004708 RCV001781181 RCV002512767 RCV003904807 RCV005089164 RCV005419861

NM_004937.3(CTNS):c.969C>G (p.Asn323Lys)

SNV
Germline

Chr17:3659974

Pathogenic

Juvenile nephropathic cystinosis
Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases
Nephropathic cystinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA253164

rs_121908128

3 SubmittersRCV000004709 RCV002512768 RCV003466816

NM_004937.3(CTNS):c.329G>T (p.Gly110Val)

SNV
Germline

Chr17:3655101

Pathogenic

Cystinosis, atypical nephropathic

No Assertion Criteria Provided

CA116859

rs_121908129

1 SubmittersRCV000004710

NM_004937.3(CTNS):c.416C>T (p.Ser139Phe)

SNV
Germline

Chr17:3655307

Pathogenic/Likely pathogenic

Juvenile nephropathic cystinosis
Cystinosis, atypical nephropathic
Nephropathic cystinosis
Inborn genetic diseases
Ocular cystinosis
Juvenile nephropathic cystinosis
Condition: not provided
Nephropathic cystinosis
Ocular cystinosis
Juvenile nephropathic cystinosis
Cystinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA116861

rs_267606754

9 SubmittersRCV000004711 RCV000004712 RCV000169140 RCV002512769 RCV005251018 RCV005089165 RCV005419862

NM_004937.3(CTNS):c.473T>C (p.Leu158Pro)

SNV
Germline

Chr17:3656498

Pathogenic/Likely pathogenic

Nephropathic cystinosis
Condition: not provided
Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases
Ocular cystinosis
Juvenile nephropathic cystinosis
Nephropathic cystinosis
CTNS-related disorder
Cystinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA342075

rs_113994206

10 SubmittersRCV000020624 RCV001781295 RCV002513140 RCV005089289 RCV004748534 RCV005419867

NM_004937.3(CTNS):c.613G>A (p.Asp205Asn)

SNV
Germline

Chr17:3656727

Pathogenic

Nephropathic cystinosis
Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases
Condition: not provided
Cystinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA342077

rs_113994208

6 SubmittersRCV000020625 RCV002513141 RCV003105775 RCV005419868

NM_004937.3(CTNS):c.612C>T (p.Asn204=)

SNV
Germline

Chr17:3656726

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA248111

rs_200170842

3 SubmittersRCV000180610 RCV001804909 RCV002516824

NM_004937.3(CTNS):c.561+4C>T

SNV
Germline

Chr17:3656590

Conflicting classifications of pathogenicity

not specified
Ocular cystinosis
Nephropathic cystinosis
Condition: not provided
Cystinosis
Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8291775

rs_111256750

5 SubmittersRCV000243413 RCV000332820 RCV000373428 RCV000726278 RCV005419929 RCV002518595

NM_004937.3(CTNS):c.382C>T (p.Gln128Ter)

SNV
Germline

Chr17:3655273

Pathogenic/Likely pathogenic

Nephropathic cystinosis
Inborn genetic diseases
Ocular cystinosis
Juvenile nephropathic cystinosis
Cystinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA10590106

rs_550254092

4 SubmittersRCV000989680 RCV002519020 RCV005419943

NM_004937.3(CTNS):c.544T>C (p.Trp182Arg)

SNV
Germline

Chr17:3656569

Likely pathogenic

Cystinosis
Inborn genetic diseases
Ocular cystinosis
Juvenile nephropathic cystinosis
Ocular cystinosis
Juvenile nephropathic cystinosis
Nephropathic cystinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA8291771

rs_764168489

3 SubmittersRCV005419945 RCV002519021 RCV005090321

NM_004937.3(CTNS):c.922G>A (p.Gly308Arg)

SNV
Germline

Chr17:3659927

Pathogenic/Likely pathogenic

Nephropathic cystinosis
Ocular cystinosis
Juvenile nephropathic cystinosis
Nephropathic cystinosis
Inborn genetic diseases
Ocular cystinosis
Juvenile nephropathic cystinosis
Cystinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA8291955

rs_746307931

7 SubmittersRCV002051832 RCV005090322 RCV002518787 RCV005419946

NM_004937.3(CTNS):c.969C>T (p.Asn323=)

SNV
Germline

Chr17:3659974

Conflicting classifications of pathogenicity

Condition: not provided
Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases
Cystinosis

Criteria Provided
Conflicting Classifications

CA8291966

rs_121908128

3 SubmittersRCV000329315 RCV002519145 RCV005419948

NM_004937.3(CTNS):c.792G>A (p.Gln264=)

SNV
Germline

Chr17:3658115

Conflicting classifications of pathogenicity

Condition: not provided
Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10606829

rs_148662747

2 SubmittersRCV000273491 RCV003765684

NM_004937.3(CTNS):c.1083G>A (p.Pro361=)

SNV
Germline

Chr17:3660348

Conflicting classifications of pathogenicity

Nephropathic cystinosis
Ocular cystinosis
Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8292032

rs_371189196

2 SubmittersRCV000276209 RCV000298054 RCV002522946

NM_004937.3(CTNS):c.94G>A (p.Val32Ile)

SNV
Germline

Chr17:3647476

Conflicting classifications of pathogenicity

Nephropathic cystinosis
Condition: not provided
Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases
Inborn genetic diseases
Cystinosis

Criteria Provided
Conflicting Classifications

CA8291552

rs_146684402

5 SubmittersRCV000264244 RCV000757141 RCV002522934 RCV003165863 RCV005420134

NM_004937.3(CTNS):c.116C>T (p.Ser39Leu)

SNV
Germline

Chr17:3647498

Conflicting classifications of pathogenicity

Nephropathic cystinosis
not specified
Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases
Ocular cystinosis
Condition: not provided
CTNS-related disorder
Cystinosis

Criteria Provided
Conflicting Classifications

CA8291557

rs_144751390

9 SubmittersRCV000325694 RCV002265730 RCV002521102 RCV000382522 RCV001532291 RCV003910226 RCV005420136

NM_004937.3(CTNS):c.444G>A (p.Met148Ile)

SNV
Germline

Chr17:3655335

Conflicting classifications of pathogenicity

Ocular cystinosis
Nephropathic cystinosis
Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases
Condition: not provided
Ocular cystinosis
Juvenile nephropathic cystinosis
Nephropathic cystinosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8291713

rs_199977728

6 SubmittersRCV000339986 RCV000403908 RCV002522939 RCV000996452 RCV005090488 RCV002521103

NM_004937.3(CTNS):c.853-15G>A

SNV
Germline

Chr17:3659843

Conflicting classifications of pathogenicity

Ocular cystinosis
Nephropathic cystinosis
Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8291938

rs_376050426

2 SubmittersRCV000285827 RCV000345187 RCV002522943

NM_004937.3(CTNS):c.363C>T (p.Ser121=)

SNV
Germline

Chr17:3655254

Conflicting classifications of pathogenicity

Ocular cystinosis
Nephropathic cystinosis
Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8291698

rs_746463725

2 SubmittersRCV000278919 RCV000336575 RCV003765874

NM_004937.3(CTNS):c.695G>A (p.Arg232His)

SNV
Germline

Chr17:3658018

Conflicting classifications of pathogenicity

Ocular cystinosis
Nephropathic cystinosis
Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases
Inborn genetic diseases
Cystinosis

Criteria Provided
Conflicting Classifications

CA8291860

rs_142641674

4 SubmittersRCV000284539 RCV000374508 RCV002522942 RCV005318372 RCV005420137

NM_004937.3(CTNS):c.329+2T>C

SNV
Unknown

Chr17:3655103

Pathogenic

Nephropathic cystinosis

Criteria Provided
Single Submitter

CA16041834

rs_955833453

2 SubmittersRCV000410250

NM_004937.3(CTNS):c.681+2T>C

SNV
Unknown

Chr17:3656797

Likely pathogenic

Nephropathic cystinosis

No Assertion Criteria Provided

CA16041836

rs_1057516723

1 SubmittersRCV000410327

NM_004937.3(CTNS):c.682-1G>A

SNV
Unknown

Chr17:3658004

Likely pathogenic

Nephropathic cystinosis

No Assertion Criteria Provided

CA16041837

rs_1057516771

1 SubmittersRCV000410717

NM_004937.3(CTNS):c.734G>A (p.Trp245Ter)

SNV
Unknown

Chr17:3658057

Pathogenic

Nephropathic cystinosis

Criteria Provided
Single Submitter

CA16041838

rs_763089013

2 SubmittersRCV000411177

NM_004937.3(CTNS):c.1102T>C (p.Ter368Gln)

SNV
Unknown

Chr17:3660367

Likely pathogenic

Nephropathic cystinosis

No Assertion Criteria Provided

CA16041839

rs_1057517330

1 SubmittersRCV000411915

NM_004937.3(CTNS):c.944A>G (p.Gln315Arg)

SNV
Germline

Chr17:3659949

Likely pathogenic

Condition: not provided
Nephropathic cystinosis

Criteria Provided
Single Submitter

CA16620398

rs_1064795587

2 SubmittersRCV000479734 RCV000675105

NM_004937.3(CTNS):c.853-2A>G

SNV
Germline

Chr17:3659856

Pathogenic/Likely pathogenic

Nephropathic cystinosis
Cystinosis
Ocular cystinosis
Juvenile nephropathic cystinosis
Nephropathic cystinosis
Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA397692891

rs_1475322504

5 SubmittersRCV000666666 RCV005420215 RCV005091543 RCV005223021

NM_004937.3(CTNS):c.480C>T (p.Phe160=)

SNV
Germline

Chr17:3656505

Conflicting classifications of pathogenicity

not specified
Ocular cystinosis
Nephropathic cystinosis
Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases
Cystinosis

Criteria Provided
Conflicting Classifications

CA8291753

rs_147565118

4 SubmittersRCV000588707 RCV001123961 RCV001123960 RCV002530935 RCV005420213

NM_004937.3(CTNS):c.870C>G (p.Tyr290Ter)

SNV
Germline

Chr17:3659875

Pathogenic/Likely pathogenic

Cystinosis
Nephropathic cystinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA397692982

rs_776842972

3 SubmittersRCV005420218 RCV003465352

NM_004937.3(CTNS):c.971-12G>A

SNV
Germline

Chr17:3660224

Pathogenic

Nephropathic cystinosis
Infantile nephropathic cystinosis
Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases
Cystinosis
Ocular cystinosis
Juvenile nephropathic cystinosis
Nephropathic cystinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA8291997

rs_375952052

8 SubmittersRCV000664494 RCV001843534 RCV002528837 RCV005420221 RCV005091847

NM_004937.3(CTNS):c.-19-1G>A

SNV
Unknown

Chr17:3640187

Likely pathogenic

Nephropathic cystinosis

Criteria Provided
Single Submitter

CA658824066

rs_1555558034

2 SubmittersRCV000667805

NM_004937.3(CTNS):c.62-2A>G

SNV
Unknown

Chr17:3647442

Likely pathogenic

Nephropathic cystinosis

No Assertion Criteria Provided

CA397686973

rs_1555560637

1 SubmittersRCV000672882

NM_004937.3(CTNS):c.73A>T (p.Ser25Cys)

SNV
Unknown

Chr17:3647455

Likely pathogenic

Nephropathic cystinosis

Criteria Provided
Single Submitter

CA8291547

rs_777367316

2 SubmittersRCV000670911

NM_004937.3(CTNS):c.61+1G>A

SNV
Unknown

Chr17:3640268

Likely pathogenic

Nephropathic cystinosis

No Assertion Criteria Provided

CA397686490

rs_1555558116

1 SubmittersRCV000674116

NM_004937.3(CTNS):c.681G>A (p.Glu227=)

SNV
Germline

Chr17:3656795

Pathogenic

Nephropathic cystinosis
Condition: not provided
Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases
Ocular cystinosis
Juvenile nephropathic cystinosis
Nephropathic cystinosis
Cystinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA497462207

rs_778414542

10 SubmittersRCV000668750 RCV001543503 RCV002531208 RCV005091938 RCV005420225

NM_004937.3(CTNS):c.451A>G (p.Arg151Gly)

SNV
Unknown

Chr17:3655342

Likely pathogenic

Nephropathic cystinosis

No Assertion Criteria Provided

CA397690832

rs_1555563010

1 SubmittersRCV000672610

NM_004937.3(CTNS):c.853-1G>A

SNV
Germline

Chr17:3659857

Likely pathogenic

Nephropathic cystinosis
Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases

Criteria Provided
Single Submitter

CA397692898

rs_1555564588

2 SubmittersRCV000673974 RCV003768007

NM_004937.3(CTNS):c.890G>A (p.Trp297Ter)

SNV
Germline

Chr17:3659895

Pathogenic

Nephropathic cystinosis
Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA287019849

rs_917630768

3 SubmittersRCV000666309 RCV002530676

NM_004937.3(CTNS):c.225+1G>A

SNV
Germline

Chr17:3648932

Pathogenic

Nephropathic cystinosis
Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases

Criteria Provided
Single Submitter

CA397688324

rs_1555561049

2 SubmittersRCV000673312 RCV002531336

NM_004937.3(CTNS):c.518A>G (p.Tyr173Cys)

SNV
Germline

Chr17:3656543

Pathogenic

Nephropathic cystinosis
Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases

Criteria Provided
Single Submitter

CA397691331

rs_1555563446

2 SubmittersRCV000674853 RCV003768016

NM_004937.3(CTNS):c.1082C>T (p.Pro361Leu)

SNV
Germline

Chr17:3660347

Conflicting classifications of pathogenicity

Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases
Inborn genetic diseases
Cystinosis

Criteria Provided
Conflicting Classifications

CA8292031

rs_560868487

3 SubmittersRCV002533448 RCV004609495 RCV005420230

NM_004937.3(CTNS):c.422C>T (p.Ser141Phe)

SNV
Germline

Chr17:3655313

Pathogenic/Likely pathogenic

Condition: not provided
Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases
Nephropathic cystinosis
Cystinosis
Ocular cystinosis
Juvenile nephropathic cystinosis
Nephropathic cystinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA397690769

rs_1436441738

6 SubmittersRCV001816874 RCV002537248 RCV003338814 RCV005420249 RCV005092413

NM_004937.3(CTNS):c.429C>A (p.Tyr143Ter)

SNV
Germline

Chr17:3655320

Pathogenic/Likely pathogenic

Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases
Nephropathic cystinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA397690783

rs_1597647930

2 SubmittersRCV002537328 RCV003472408

NM_004937.3(CTNS):c.140+1G>T

SNV
Germline

Chr17:3647523

Pathogenic/Likely pathogenic

Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases
Ocular cystinosis
Juvenile nephropathic cystinosis
Nephropathic cystinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA397687213

rs_1567701415

2 SubmittersRCV002536032 RCV005092459

NM_004937.3(CTNS):c.682-1G>T

SNV
Germline

Chr17:3658004

Pathogenic/Likely pathogenic

Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases
Nephropathic cystinosis
Condition: not provided
Ocular cystinosis
Juvenile nephropathic cystinosis
Nephropathic cystinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA397692162

rs_1057516771

4 SubmittersRCV002535938 RCV003473516 RCV004702460 RCV005092452

NM_004937.3(CTNS):c.62-1G>A

SNV
Germline

Chr17:3647443

Pathogenic

Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases

Criteria Provided
Single Submitter

CA397686976

rs_1597619719

1 SubmittersRCV002537249

NM_004937.3(CTNS):c.285A>T (p.Gly95=)

SNV
Germline

Chr17:3655057

Conflicting classifications of pathogenicity

Ocular cystinosis
Nephropathic cystinosis
Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases
Cystinosis

Criteria Provided
Conflicting Classifications

CA8291652

rs_373998956

3 SubmittersRCV001126520 RCV001126521 RCV002540064 RCV005420257

NM_004937.3(CTNS):c.364G>A (p.Ala122Thr)

SNV
Germline

Chr17:3655255

Conflicting classifications of pathogenicity

Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases
Condition: not provided
Ocular cystinosis
Juvenile nephropathic cystinosis
Nephropathic cystinosis
Cystinosis

Criteria Provided
Conflicting Classifications

CA8291699

rs_187396540

4 SubmittersRCV002539334 RCV003145228 RCV005092628 RCV005420254

NM_004937.3(CTNS):c.510C>T (p.Phe170=)

SNV
Germline

Chr17:3656535

Conflicting classifications of pathogenicity

Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases
Ocular cystinosis
Juvenile nephropathic cystinosis
Nephropathic cystinosis
Cystinosis

Criteria Provided
Conflicting Classifications

CA8291760

rs_747488464

3 SubmittersRCV002545975 RCV005092897 RCV005420269

NM_004937.3(CTNS):c.691C>T (p.Gln231Ter)

SNV
Germline

Chr17:3658014

Pathogenic/Likely pathogenic

Nephropathic cystinosis
Ocular cystinosis
Juvenile nephropathic cystinosis
Nephropathic cystinosis
CTNS-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA397692197

rs_1463026342

4 SubmittersRCV004569836 RCV005092986 RCV004731074 RCV005620401

NM_004937.3(CTNS):c.61+5G>A

SNV
Germline

Chr17:3640272

Pathogenic

Nephropathic cystinosis
Inborn genetic diseases
Ocular cystinosis
Juvenile nephropathic cystinosis
Ocular cystinosis
Juvenile nephropathic cystinosis
Nephropathic cystinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA624536858

rs_1407498555

3 SubmittersRCV003467715 RCV002551408 RCV005093307

NM_004937.3(CTNS):c.306T>C (p.His102=)

SNV
Germline

Chr17:3655078

Conflicting classifications of pathogenicity

Ocular cystinosis
Nephropathic cystinosis
Inborn genetic diseases
Ocular cystinosis
Juvenile nephropathic cystinosis

Criteria Provided
Conflicting Classifications

CA497661129

rs_2076094603

2 SubmittersRCV001128584 RCV001126522 RCV002556755

NM_004937.3(CTNS):c.661G>A (p.Val221Met)

SNV
Germline

Chr17:3656775

Conflicting classifications of pathogenicity

Ocular cystinosis
Nephropathic cystinosis
Inborn genetic diseases
Ocular cystinosis
Juvenile nephropathic cystinosis
Ocular cystinosis
Juvenile nephropathic cystinosis
Nephropathic cystinosis

Criteria Provided
Conflicting Classifications

CA8291811

rs_138270433

3 SubmittersRCV001126641 RCV001126642 RCV002558246 RCV005093584

NM_004937.3(CTNS):c.699G>A (p.Val233=)

SNV
Germline

Chr17:3658022

Conflicting classifications of pathogenicity

Nephropathic cystinosis
Ocular cystinosis
Inborn genetic diseases
Ocular cystinosis
Juvenile nephropathic cystinosis

Criteria Provided
Conflicting Classifications

CA497464459

rs_2076195866

2 SubmittersRCV001127034 RCV001127033 RCV002556770

NM_004937.3(CTNS):c.730G>A (p.Ala244Thr)

SNV
Germline

Chr17:3658053

Conflicting classifications of pathogenicity

Ocular cystinosis
Nephropathic cystinosis
Inborn genetic diseases
Ocular cystinosis
Juvenile nephropathic cystinosis

Criteria Provided
Conflicting Classifications

CA8291875

rs_559490847

2 SubmittersRCV001127035 RCV001127036 RCV002556771

NM_004937.3(CTNS):c.1071C>T (p.Tyr357=)

SNV
Germline

Chr17:3660336

Conflicting classifications of pathogenicity

Nephropathic cystinosis
Ocular cystinosis
Inborn genetic diseases
Ocular cystinosis
Juvenile nephropathic cystinosis

Criteria Provided
Conflicting Classifications

CA497466761

rs_1210146657

2 SubmittersRCV001124065 RCV001124066 RCV005213462

NM_004937.3(CTNS):c.433C>T (p.Gln145Ter)

SNV
Germline

Chr17:3655324

Pathogenic

Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases
Cystinosis

Criteria Provided
Single Submitter

CA397690789

rs_2076101632

2 SubmittersRCV002561138 RCV005420380

NM_004937.3(CTNS):c.141-1G>A

SNV
Germline

Chr17:3648846

Likely pathogenic

Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases

Criteria Provided
Single Submitter

CA397687756

rs_2075906916

1 SubmittersRCV002561165

NM_004937.3(CTNS):c.62-1G>T

SNV
Germline

Chr17:3647443

Pathogenic

Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases

Criteria Provided
Single Submitter

CA397686978

rs_1597619719

1 SubmittersRCV002561869

NM_004937.3(CTNS):c.790C>T (p.Gln264Ter)

SNV
Germline

Chr17:3658113

Pathogenic

Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases

Criteria Provided
Single Submitter

CA397692553

rs_2076198741

1 SubmittersRCV002563769

NM_004937.3(CTNS):c.140+2T>C

SNV
Germline

Chr17:3647524

Pathogenic/Likely pathogenic

Nephropathic cystinosis
Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA397687220

rs_2075872773

2 SubmittersRCV003473798 RCV002563779

NM_004937.3(CTNS):c.681+1G>A

SNV
Germline

Chr17:3656796

Pathogenic

Nephropathic cystinosis
Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases
Ocular cystinosis
Juvenile nephropathic cystinosis
Nephropathic cystinosis
Cystinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA8291818

rs_749317721

6 SubmittersRCV003473819 RCV002563996 RCV005094163 RCV005420384

NM_004937.3(CTNS):c.300T>A (p.Tyr100Ter)

SNV
Germline

Chr17:3655072

Pathogenic/Likely pathogenic

Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases
Ocular cystinosis
Juvenile nephropathic cystinosis
Nephropathic cystinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA397690224

rs_376042415

2 SubmittersRCV003770373 RCV005094261

NM_004937.3(CTNS):c.402C>G (p.Tyr134Ter)

SNV
Unknown

Chr17:3655293

Likely pathogenic

Ocular cystinosis
Juvenile nephropathic cystinosis
Nephropathic cystinosis

Criteria Provided
Single Submitter

CA397690728

rs_2076100759

1 SubmittersRCV005094262

NM_004937.3(CTNS):c.634G>A (p.Ala212Thr)

SNV
Germline

Chr17:3656748

Conflicting classifications of pathogenicity

Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases
Cystinosis
Ocular cystinosis
Juvenile nephropathic cystinosis
Nephropathic cystinosis

Criteria Provided
Conflicting Classifications

CA8291804

rs_768600603

3 SubmittersRCV002542900 RCV005420397 RCV005094309

NM_004937.3(CTNS):c.635C>T (p.Ala212Val)

SNV
Germline

Chr17:3656749

Pathogenic/Likely pathogenic

Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases
Ocular cystinosis
Juvenile nephropathic cystinosis
Nephropathic cystinosis
Cystinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA8291805

rs_776658046

3 SubmittersRCV002543797 RCV005094392 RCV005420398

NM_004937.3(CTNS):c.971-1G>C

SNV
Germline

Chr17:3660235

Likely pathogenic

Nephropathic cystinosis

No Assertion Criteria Provided

CA397693965

rs_2142982540

1 SubmittersRCV001375476

NM_004937.3(CTNS):c.809C>T (p.Ser270Phe)

SNV
Germline

Chr17:3658132

Likely pathogenic

Inborn genetic diseases
Juvenile nephropathic cystinosis
Ocular cystinosis

Criteria Provided
Single Submitter

CA397692606

rs_2150925336

1 SubmittersRCV002550249

NM_004937.3(CTNS):c.839A>G (p.Lys280Arg)

SNV
Germline

Chr17:3658162

Pathogenic/Likely pathogenic

Inborn genetic diseases
Juvenile nephropathic cystinosis
Ocular cystinosis
Nephropathic cystinosis
Cystinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA397692730

rs_2150925451

3 SubmittersRCV002550250 RCV003469636 RCV005420402

NM_004937.3(CTNS):c.852+1G>A

SNV
Germline

Chr17:3658176

Likely pathogenic

Inborn genetic diseases
Juvenile nephropathic cystinosis
Ocular cystinosis

Criteria Provided
Single Submitter

CA397692774

rs_2150925483

1 SubmittersRCV003104056

NM_004937.3(CTNS):c.61G>T (p.Glu21Ter)

SNV
Germline

Chr17:3640267

Pathogenic/Likely pathogenic

Inborn genetic diseases
Juvenile nephropathic cystinosis
Ocular cystinosis
Nephropathic cystinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA397686485

rs_2150889009

2 SubmittersRCV002551566 RCV003473988

NM_004937.3(CTNS):c.274C>T (p.Gln92Ter)

SNV
Germline

Chr17:3655046

Pathogenic

Inborn genetic diseases
Juvenile nephropathic cystinosis
Ocular cystinosis

Criteria Provided
Single Submitter

CA397690134

rs_2150919035

1 SubmittersRCV002551536

NM_004937.3(CTNS):c.735G>A (p.Trp245Ter)

SNV
Germline

Chr17:3658058

Pathogenic

Inborn genetic diseases
Juvenile nephropathic cystinosis
Ocular cystinosis

Criteria Provided
Single Submitter

CA397692368

rs_2150925108

1 SubmittersRCV002551580

NM_004937.3(CTNS):c.682-9C>T

SNV
Germline

Chr17:3657996

Conflicting classifications of pathogenicity

Inborn genetic diseases
Juvenile nephropathic cystinosis
Ocular cystinosis
See cases

Criteria Provided
Conflicting Classifications

CA287018683

rs_943621505

2 SubmittersRCV002551591 RCV002252680

NM_004937.3(CTNS):c.685G>A (p.Gly229Ser)

SNV
Germline

Chr17:3658008

Conflicting classifications of pathogenicity

not specified
Inborn genetic diseases
Ocular cystinosis
Juvenile nephropathic cystinosis
Nephropathic cystinosis
Ocular cystinosis
Juvenile nephropathic cystinosis

Criteria Provided
Conflicting Classifications

CA8291857

rs_200336280

3 SubmittersRCV001844615 RCV002543318 RCV005095314

NM_004937.3(CTNS):c.61+2T>C

SNV
Germline

Chr17:3640269

Likely pathogenic

Inborn genetic diseases
Juvenile nephropathic cystinosis
Ocular cystinosis
Juvenile nephropathic cystinosis
Ocular cystinosis
Nephropathic cystinosis
Nephropathic cystinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA8291529

rs_767289120

3 SubmittersRCV002675467 RCV005095521 RCV003475282

NM_004937.3(CTNS):c.546G>T (p.Trp182Cys)

SNV
Germline

Chr17:3656571

Likely pathogenic

Inborn genetic diseases
Ocular cystinosis
Juvenile nephropathic cystinosis
Nephropathic cystinosis
Ocular cystinosis
Juvenile nephropathic cystinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA397691391

rs_2150922764

2 SubmittersRCV002571228 RCV005095489

NM_004937.3(CTNS):c.697G>A (p.Val233Met)

SNV
Germline

Chr17:3658020

Conflicting classifications of pathogenicity

Inborn genetic diseases
Inborn genetic diseases
Ocular cystinosis
Juvenile nephropathic cystinosis
Nephropathic cystinosis
Ocular cystinosis
Juvenile nephropathic cystinosis

Criteria Provided
Conflicting Classifications

CA8291863

rs_201058200

3 SubmittersRCV002552954 RCV002552955 RCV005095386

NM_004937.3(CTNS):c.1A>T (p.Met1Leu)

SNV
Germline

Chr17:3640207

Pathogenic

Inborn genetic diseases
Ocular cystinosis
Juvenile nephropathic cystinosis

Criteria Provided
Single Submitter

CA397686137

rs_2075650925

1 SubmittersRCV002554156

NM_004937.3(CTNS):c.449G>A (p.Trp150Ter)

SNV
Germline

Chr17:3655340

Pathogenic

Inborn genetic diseases
Ocular cystinosis
Juvenile nephropathic cystinosis

Criteria Provided
Single Submitter

CA397690828

rs_2076101974

1 SubmittersRCV002553659

NM_004937.3(CTNS):c.970+5G>A

SNV
Germline

Chr17:3659980

Pathogenic/Likely pathogenic

Inborn genetic diseases
Ocular cystinosis
Juvenile nephropathic cystinosis
Nephropathic cystinosis
Ocular cystinosis
Juvenile nephropathic cystinosis
Nephropathic cystinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA8291968

rs_753451110

3 SubmittersRCV002563619 RCV005095475 RCV005406228

NM_004937.3(CTNS):c.922G>C (p.Gly308Arg)

SNV
Germline

Chr17:3659927

Pathogenic

Inborn genetic diseases
Ocular cystinosis
Juvenile nephropathic cystinosis

Criteria Provided
Single Submitter

CA397693194

rs_746307931

1 SubmittersRCV002569141

NM_004937.3(CTNS):c.61+1G>T

SNV
Germline

Chr17:3640268

Likely pathogenic

Inborn genetic diseases
Ocular cystinosis
Juvenile nephropathic cystinosis

Criteria Provided
Single Submitter

CA397686486

rs_1555558116

1 SubmittersRCV002592624

NM_004937.3(CTNS):c.80C>A (p.Thr27Asn)

SNV
Germline

Chr17:3647462

Conflicting classifications of pathogenicity

Inborn genetic diseases
Juvenile nephropathic cystinosis
Ocular cystinosis
Inborn genetic diseases
Juvenile nephropathic cystinosis
Ocular cystinosis
Nephropathic cystinosis

Criteria Provided
Conflicting Classifications

CA8291548

rs_576315457

3 SubmittersRCV003007140 RCV004612140 RCV005095666

NM_004937.3(CTNS):c.565C>T (p.Gln189Ter)

SNV
Germline

Chr17:3656679

Pathogenic/Likely pathogenic

Inborn genetic diseases
Juvenile nephropathic cystinosis
Ocular cystinosis
Nephropathic cystinosis
Cystinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA397691445

rs_1597654770

3 SubmittersRCV003096120 RCV003471301 RCV005420424

NM_004937.3(CTNS):c.140+1G>C

SNV
Germline

Chr17:3647523

Likely pathogenic

Nephropathic cystinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA397687210

rs_1567701415

2 SubmittersRCV002283924

NM_004937.3(CTNS):c.286C>T (p.Gln96Ter)

SNV
Germline

Chr17:3655058

Pathogenic/Likely pathogenic

Inborn genetic diseases
Juvenile nephropathic cystinosis
Ocular cystinosis
Juvenile nephropathic cystinosis
Ocular cystinosis
Nephropathic cystinosis
Nephropathic cystinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA397690178

rs_2507742346

3 SubmittersRCV003099148 RCV005096130 RCV004572228

NM_004937.3(CTNS):c.672C>A (p.Cys224Ter)

SNV
Unknown

Chr17:3656786

Likely pathogenic

Juvenile nephropathic cystinosis
Ocular cystinosis
Nephropathic cystinosis

Criteria Provided
Single Submitter

CA397691859

rs_2507764701

1 SubmittersRCV005096134

NM_004937.3(CTNS):c.715G>A (p.Gly239Ser)

SNV
Germline

Chr17:3658038

Conflicting classifications of pathogenicity

Inborn genetic diseases
Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8291868

rs_374075160

2 SubmittersRCV003076840 RCV004070410

NM_004937.3(CTNS):c.923G>T (p.Gly308Val)

SNV
Germline

Chr17:3659928

Pathogenic

Inborn genetic diseases
Ocular cystinosis
Juvenile nephropathic cystinosis

Criteria Provided
Single Submitter

CA287019887

rs_908965524

1 SubmittersRCV003041267

NM_004937.3(CTNS):c.141-24T>C

SNV
Germline

Chr17:3648823

Pathogenic

Inborn genetic diseases
Ocular cystinosis
Juvenile nephropathic cystinosis
Nephropathic cystinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA2580093509

rs_2507696018

2 SubmittersRCV002612623 RCV005059171

NM_004937.3(CTNS):c.226-1G>C

SNV
Germline

Chr17:3654997

Likely pathogenic

Inborn genetic diseases
Ocular cystinosis
Juvenile nephropathic cystinosis

Criteria Provided
Single Submitter

CA397689975

rs_2507741403

1 SubmittersRCV002829960

NM_004937.3(CTNS):c.415T>C (p.Ser139Pro)

SNV
Germline

Chr17:3655306

Conflicting classifications of pathogenicity

Inborn genetic diseases
Ocular cystinosis
Juvenile nephropathic cystinosis
not specified

Criteria Provided
Conflicting Classifications

CA397690753

rs_2507745639

2 SubmittersRCV002876039 RCV004765579

NM_004937.3(CTNS):c.1045T>G (p.Phe349Val)

SNV
Germline

Chr17:3660310

Conflicting classifications of pathogenicity

Inborn genetic diseases
Ocular cystinosis
Juvenile nephropathic cystinosis
Nephropathic cystinosis

Criteria Provided
Conflicting Classifications

CA8292023

rs_748094459

2 SubmittersRCV002962300 RCV003883204

NM_004937.3(CTNS):c.850C>T (p.Gln284Ter)

SNV
Germline

Chr17:3658173

Likely pathogenic

Cystinosis

Criteria Provided
Single Submitter

CA397692768

rs_2507777392

1 SubmittersRCV005420441

NM_004937.3(CTNS):c.225+3A>T

SNV
Germline

Chr17:3648934

Pathogenic/Likely pathogenic

Nephropathic cystinosis
Ocular cystinosis
Inborn genetic diseases
Juvenile nephropathic cystinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA913010123

rs_2075909295

2 SubmittersRCV003475800 RCV003779167

NM_004937.3(CTNS):c.395G>A (p.Trp132Ter)

SNV
Unknown

Chr17:3655286

Likely pathogenic

Nephropathic cystinosis

Criteria Provided
Single Submitter

CA397690709

rs_2076100543

1 SubmittersRCV003475802

NM_004937.3(CTNS):c.530A>G (p.Asn177Ser)

SNV
Unknown

Chr17:3656555

Likely pathogenic

Nephropathic cystinosis

Criteria Provided
Single Submitter

CA397691358

rs_2507761348

1 SubmittersRCV003475804

NM_004937.3(CTNS):c.977G>A (p.Trp326Ter)

SNV
Unknown

Chr17:3660242

Likely pathogenic

Nephropathic cystinosis

Criteria Provided
Single Submitter

CA397693999

rs_1431410587

1 SubmittersRCV003475807

NM_004937.3(CTNS):c.546G>A (p.Trp182Ter)

SNV
Unknown

Chr17:3656571

Likely pathogenic

Nephropathic cystinosis

Criteria Provided
Single Submitter

CA397691389

rs_2150922764

1 SubmittersRCV003475811

NM_004937.3(CTNS):c.864C>A (p.Asn288Lys)

SNV
Unknown

Chr17:3659869

Likely pathogenic

Nephropathic cystinosis

Criteria Provided
Single Submitter

CA397692947

rs_2076245419

1 SubmittersRCV003475812

NM_004937.3(CTNS):c.226-1G>A

SNV
Unknown

Chr17:3654997

Likely pathogenic

Nephropathic cystinosis

Criteria Provided
Single Submitter

CA397689976

rs_2507741403

1 SubmittersRCV003475814

NM_004937.3(CTNS):c.15G>A (p.Trp5Ter)

SNV
Germline

Chr17:3640221

Pathogenic

Nephropathic cystinosis
Ocular cystinosis
Inborn genetic diseases
Juvenile nephropathic cystinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA397686229

rs_1390032475

2 SubmittersRCV003475816 RCV003779169

NM_004937.3(CTNS):c.562-2A>G

SNV
Unknown

Chr17:3656674

Likely pathogenic

Nephropathic cystinosis

Criteria Provided
Single Submitter

CA397691431

rs_2507762791

1 SubmittersRCV003468560

NM_004937.3(CTNS):c.955C>T (p.Gln319Ter)

SNV
Unknown

Chr17:3659960

Likely pathogenic

Nephropathic cystinosis

Criteria Provided
Single Submitter

CA397693330

rs_2142981652

1 SubmittersRCV003468561

NM_004937.3(CTNS):c.785G>A (p.Trp262Ter)

SNV
Germline

Chr17:3658108

Likely pathogenic

Ocular cystinosis

Criteria Provided
Single Submitter

CA397692540

rs_2507776613

1 SubmittersRCV003455885

NM_004937.3(CTNS):c.1054C>T (p.Gln352Ter)

SNV
Germline

Chr17:3660319

Pathogenic

Nephropathic cystinosis

Criteria Provided
Single Submitter

rs_2507794658

1 SubmittersRCV004577615

NM_004937.3(CTNS):c.517T>C (p.Tyr173His)

SNV
Germline

Chr17:3656542

Likely pathogenic

Inborn genetic diseases
Ocular cystinosis
Juvenile nephropathic cystinosis
Nephropathic cystinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA397691329

rs_2076151594

2 SubmittersRCV003783688 RCV004527465

NM_004937.3(CTNS):c.562-1G>C

SNV
Germline

Chr17:3656675

Likely pathogenic

Inborn genetic diseases
Ocular cystinosis
Juvenile nephropathic cystinosis

Criteria Provided
Single Submitter

CA397691434

rs_2507762815

1 SubmittersRCV003783689

NM_004937.3(CTNS):c.943C>T (p.Gln315Ter)

SNV
Germline

Chr17:3659948

Pathogenic

Inborn genetic diseases
Ocular cystinosis
Juvenile nephropathic cystinosis

Criteria Provided
Single Submitter

CA397693278

rs_1338364389

1 SubmittersRCV003783690

NM_004937.3(CTNS):c.225+5G>A

SNV
Germline

Chr17:3648936

Likely pathogenic

Inborn genetic diseases
Ocular cystinosis
Juvenile nephropathic cystinosis

Criteria Provided
Single Submitter

CA2243994642

rs_1463544406

1 SubmittersRCV003788406

NM_004937.3(CTNS):c.140+1G>A

SNV
Germline

Chr17:3647523

Pathogenic

Inborn genetic diseases
Ocular cystinosis
Juvenile nephropathic cystinosis

Criteria Provided
Single Submitter

CA397687207

rs_1567701415

1 SubmittersRCV003799064

NM_004937.3(CTNS):c.682-2A>C

SNV
Germline

Chr17:3658003

Pathogenic

Inborn genetic diseases
Ocular cystinosis
Juvenile nephropathic cystinosis

Criteria Provided
Single Submitter

CA397692155

rs_760905567

1 SubmittersRCV003802290

NM_004937.3(CTNS):c.545G>A (p.Trp182Ter)

SNV
Germline

Chr17:3656570

Pathogenic

Inborn genetic diseases
Ocular cystinosis
Juvenile nephropathic cystinosis

Criteria Provided
Single Submitter

CA397691388

rs_2507761574

1 SubmittersRCV003812815

NM_004937.3(CTNS):c.462-1G>A

SNV
Germline

Chr17:3656486

Likely pathogenic

Nephropathic cystinosis

No Assertion Criteria Provided

CA397691216

rs_2507760503

1 SubmittersRCV003885436

NM_004937.3(CTNS):c.225+1G>C

SNV
Germline

Chr17:3648932

Likely pathogenic

Nephropathic cystinosis

Criteria Provided
Single Submitter

rs_1555561049

1 SubmittersRCV004576124

NM_004937.3(CTNS):c.450G>A (p.Trp150Ter)

SNV
Unknown

Chr17:3655341

Pathogenic

Nephropathic cystinosis

Criteria Provided
Single Submitter

rs_2507745996

1 SubmittersRCV004575711

NM_004937.3(CTNS):c.971-2A>G

SNV
Unknown

Chr17:3660234

Likely pathogenic

Nephropathic cystinosis

Criteria Provided
Single Submitter

rs_2507793584

1 SubmittersRCV004575712

NM_004937.3(CTNS):c.462-2A>C

SNV
Germline

Chr17:3656485

Pathogenic

Nephropathic cystinosis

Criteria Provided
Single Submitter

1 SubmittersRCV004775650

NM_004937.3(CTNS):c.61+5G>C

SNV
Germline

Chr17:3640272

Likely pathogenic

Ocular cystinosis
Juvenile nephropathic cystinosis
Nephropathic cystinosis

Criteria Provided
Single Submitter

1 SubmittersRCV005112655

NM_004937.3(CTNS):c.429C>G (p.Tyr143Ter)

SNV
Germline

Chr17:3655320

Likely pathogenic

Ocular cystinosis
Juvenile nephropathic cystinosis
Nephropathic cystinosis

Criteria Provided
Single Submitter

1 SubmittersRCV005112659

NM_004937.3(CTNS):c.647C>G (p.Thr216Arg)

SNV
Germline

Chr17:3656761

Likely pathogenic

Ocular cystinosis
Juvenile nephropathic cystinosis
Nephropathic cystinosis

Criteria Provided
Single Submitter

1 SubmittersRCV005112662

NM_004937.3(CTNS):c.923G>C (p.Gly308Ala)

SNV
Germline

Chr17:3659928

Likely pathogenic

Ocular cystinosis
Juvenile nephropathic cystinosis
Nephropathic cystinosis
Cystinosis

Criteria Provided
Single Submitter

2 SubmittersRCV005112668 RCV005618416

NM_004937.3(CTNS):c.1A>G (p.Met1Val)

SNV
Germline

Chr17:3640207

Pathogenic

Inborn genetic diseases
Juvenile nephropathic cystinosis
Ocular cystinosis

Criteria Provided
Single Submitter

1 SubmittersRCV005210965

NM_004937.3(CTNS):c.329+1G>A

SNV
Germline

Chr17:3655102

Pathogenic

Inborn genetic diseases
Juvenile nephropathic cystinosis
Ocular cystinosis

Criteria Provided
Single Submitter

1 SubmittersRCV005211253