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.414G>A (p.Trp138Ter)	SNV Germline	Chr17:3655305	Pathogenic	Nephropathic cystinosis Condition: not provided Nephropathic cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Cystinosis Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis	Criteria Provided Multiple Submitters No Conflicts	CA340259	rs_113994205	11 SubmittersRCV000004693 RCV000723832 RCV000630473 RCV001276658 RCV002512763
NM_004937.3(CTNS):c.506G>A (p.Gly169Asp)	SNV Germline	Chr17:3656531	Likely pathogenic	Nephropathic cystinosis Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis	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 Nephropathic cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis Cystinosis	Criteria Provided Multiple Submitters No Conflicts	CA278463	rs_113994207	8 SubmittersRCV000004704 RCV000169004 RCV000514820 RCV000763395 RCV002512766 RCV001844005
NC_000017.11:g.3636418G>T	SNV Germline	Chr17:3636418	Pathogenic	Ocular cystinosis	No Assertion Criteria Provided		rs_887657778	1 SubmittersRCV000004706
NM_004937.3(CTNS):c.1015G>A (p.Gly339Arg)	SNV Germline	Chr17:3660280	Pathogenic	Nephropathic cystinosis Cystinosis Condition: not provided Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis CTNS-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA278067	rs_121908127	11 SubmittersRCV000004708 RCV001193377 RCV001781181 RCV002512767 RCV003904807
NM_004937.3(CTNS):c.969C>G (p.Asn323Lys)	SNV Germline	Chr17:3659974	Pathogenic	Juvenile nephropathic cystinosis Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis Nephropathic cystinosis	Criteria Provided Multiple Submitters No Conflicts	CA253164	rs_121908128	3 SubmittersRCV000004709 RCV002512768 RCV003466816
NM_004937.3(CTNS):c.416C>T (p.Ser139Phe)	SNV Germline	Chr17:3655307	Pathogenic/Likely pathogenic	Juvenile nephropathic cystinosis Cystinosis, atypical nephropathic Nephropathic cystinosis Cystinosis Nephropathic cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis	Criteria Provided Multiple Submitters No Conflicts	CA116861	rs_267606754	8 SubmittersRCV000004711 RCV000004712 RCV000169140 RCV000258030 RCV002243621 RCV002512769
NM_004937.3(CTNS):c.473T>C (p.Leu158Pro)	SNV Germline	Chr17:3656498	Pathogenic/Likely pathogenic	Nephropathic cystinosis Cystinosis Condition: not provided Nephropathic cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis	Criteria Provided Multiple Submitters No Conflicts	CA342075	rs_113994206	9 SubmittersRCV000020624 RCV001276660 RCV001781295 RCV002243657 RCV002513140
NM_004937.3(CTNS):c.613G>A (p.Asp205Asn)	SNV Germline	Chr17:3656727	Pathogenic	Nephropathic cystinosis Cystinosis Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA342077	rs_113994208	6 SubmittersRCV000020625 RCV000590697 RCV002513141 RCV003105775
NM_004937.3(CTNS):c.612C>T (p.Asn204=)	SNV Germline	Chr17:3656726	Conflicting classifications of pathogenicity	Condition: not provided not specified Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis	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 RCV001274178 RCV002518595
NM_004937.3(CTNS):c.382C>T (p.Gln128Ter)	SNV Germline	Chr17:3655273	Pathogenic/Likely pathogenic	Cystinosis Nephropathic cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA10590106	rs_550254092	4 SubmittersRCV000258034 RCV000989680 RCV002519020
NM_004937.3(CTNS):c.544T>C (p.Trp182Arg)	SNV Germline	Chr17:3656569	Likely pathogenic	Cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases	Criteria Provided Single Submitter	CA8291771	rs_764168489	2 SubmittersRCV000258035 RCV002519021
NM_004937.3(CTNS):c.922G>A (p.Gly308Arg)	SNV Germline	Chr17:3659927	Pathogenic/Likely pathogenic	Cystinosis Ocular cystinosis Nephropathic cystinosis Juvenile nephropathic cystinosis Nephropathic cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA8291955	rs_746307931	7 SubmittersRCV000258031 RCV000691400 RCV002051832 RCV002518787
NM_004937.3(CTNS):c.969C>T (p.Asn323=)	SNV Germline	Chr17:3659974	Conflicting classifications of pathogenicity	Condition: not provided Cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8291966	rs_121908128	3 SubmittersRCV000329315 RCV001274185 RCV002519145
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 Cystinosis Condition: not provided Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8291552	rs_146684402	5 SubmittersRCV000264244 RCV000322260 RCV000757141 RCV003165863 RCV002522934
NM_004937.3(CTNS):c.116C>T (p.Ser39Leu)	SNV Germline	Chr17:3647498	Conflicting classifications of pathogenicity	Nephropathic cystinosis Ocular cystinosis Condition: not provided Cystinosis CTNS-related disorder not specified Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8291557	rs_144751390	8 SubmittersRCV000325694 RCV000382522 RCV001532291 RCV001271645 RCV003910226 RCV002265730 RCV002521102
NM_004937.3(CTNS):c.444G>A (p.Met148Ile)	SNV Germline	Chr17:3655335	Conflicting classifications of pathogenicity	Ocular cystinosis Nephropathic cystinosis Condition: not provided Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8291713	rs_199977728	5 SubmittersRCV000339986 RCV000403908 RCV000996452 RCV002521103 RCV002522939
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 Cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8291860	rs_142641674	3 SubmittersRCV000284539 RCV000374508 RCV001274180 RCV002522942
NM_004937.3(CTNS):c.329+2T>C	SNV Germline	Chr17:3655103	Conflicting classifications of pathogenicity	Nephropathic cystinosis Ocular cystinosis	Criteria Provided Conflicting Classifications	CA16041834	rs_955833453	3 SubmittersRCV000410250 RCV000779215
NM_004937.3(CTNS):c.480C>T (p.Phe160=)	SNV Germline	Chr17:3656505	Conflicting classifications of pathogenicity	not specified Ocular cystinosis Cystinosis Nephropathic cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8291753	rs_147565118	4 SubmittersRCV000588707 RCV001123961 RCV001271650 RCV001123960 RCV002530935
NM_004937.3(CTNS):c.971-12G>A	SNV Germline	Chr17:3660224	Pathogenic	Nephropathic cystinosis Infantile nephropathic cystinosis Cystinosis Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis	Criteria Provided Multiple Submitters No Conflicts	CA8291997	rs_375952052	6 SubmittersRCV000664494 RCV001843534 RCV001829749 RCV002528837
NM_004937.3(CTNS):c.681G>A (p.Glu227=)	SNV Germline	Chr17:3656795	Pathogenic	Nephropathic cystinosis Condition: not provided Cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts		rs_778414542	8 SubmittersRCV000668750 RCV001543503 RCV001829850 RCV002531208
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 Multiple Submitters No Conflicts		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		rs_917630768	3 SubmittersRCV000666309 RCV002530676
NM_004937.3(CTNS):c.225+1G>A	SNV Germline	Chr17:3648932	Pathogenic/Likely pathogenic	Nephropathic cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts		rs_1555561049	2 SubmittersRCV000673312 RCV002531336
NM_004937.3(CTNS):c.518A>G (p.Tyr173Cys)	SNV Germline	Chr17:3656543	Conflicting classifications of pathogenicity	Nephropathic cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1555563446	2 SubmittersRCV000674853 RCV003768016
NM_004937.3(CTNS):c.422C>T (p.Ser141Phe)	SNV Germline	Chr17:3655313	Pathogenic/Likely pathogenic	Nephropathic cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Condition: not provided Cystinosis Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis Nephropathic cystinosis	Criteria Provided Multiple Submitters No Conflicts		rs_1436441738	6 SubmittersRCV000807325 RCV001816874 RCV002509548 RCV002537248 RCV003338814
NM_004937.3(CTNS):c.429C>A (p.Tyr143Ter)	SNV Germline	Chr17:3655320	Pathogenic/Likely pathogenic	Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis Nephropathic cystinosis	Criteria Provided Multiple Submitters No Conflicts		rs_1597647930	2 SubmittersRCV002537328 RCV003472408
NM_004937.3(CTNS):c.140+1G>T	SNV Germline	Chr17:3647523	Pathogenic	Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis	Criteria Provided Single Submitter		rs_1567701415	1 SubmittersRCV002536032
NM_004937.3(CTNS):c.682-1G>T	SNV Germline	Chr17:3658004	Pathogenic/Likely pathogenic	Nephropathic cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis Nephropathic cystinosis	Criteria Provided Multiple Submitters No Conflicts		rs_1057516771	3 SubmittersRCV002245693 RCV002535938 RCV003473516
NM_004937.3(CTNS):c.62-1G>A	SNV Germline	Chr17:3647443	Pathogenic	Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis	Criteria Provided Single Submitter		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 Cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_373998956	3 SubmittersRCV001126520 RCV001126521 RCV001830941 RCV002540064
NM_004937.3(CTNS):c.364G>A (p.Ala122Thr)	SNV Germline	Chr17:3655255	Conflicting classifications of pathogenicity	Cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Nephropathic cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications		rs_187396540	4 SubmittersRCV001276657 RCV002245723 RCV002539334 RCV003145228
NM_004937.3(CTNS):c.691C>T (p.Gln231Ter)	SNV Germline	Chr17:3658014	Pathogenic/Likely pathogenic	Ocular cystinosis Juvenile nephropathic cystinosis Nephropathic cystinosis Nephropathic cystinosis	Criteria Provided Multiple Submitters No Conflicts		rs_1463026342	2 SubmittersRCV000991398 RCV004569836
NM_004937.3(CTNS):c.61+5G>A	SNV Germline	Chr17:3640272	Pathogenic	Ocular cystinosis Juvenile nephropathic cystinosis Nephropathic cystinosis Nephropathic cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts		rs_1407498555	3 SubmittersRCV002245839 RCV003467715 RCV002551408
NM_004937.3(CTNS):c.306T>C (p.His102=)	SNV Germline	Chr17:3655078	Conflicting classifications of pathogenicity	Nephropathic cystinosis Ocular cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_2076094603	2 SubmittersRCV001126522 RCV001128584 RCV002556755
NM_004937.3(CTNS):c.661G>A (p.Val221Met)	SNV Germline	Chr17:3656775	Conflicting classifications of pathogenicity	Nephropathic cystinosis Ocular cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Nephropathic cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_138270433	3 SubmittersRCV001126642 RCV001126641 RCV002482251 RCV002558246
NM_004937.3(CTNS):c.699G>A (p.Val233=)	SNV Germline	Chr17:3658022	Conflicting classifications of pathogenicity	Ocular cystinosis Nephropathic cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_2076195866	2 SubmittersRCV001127033 RCV001127034 RCV002556770
NM_004937.3(CTNS):c.730G>A (p.Ala244Thr)	SNV Germline	Chr17:3658053	Conflicting classifications of pathogenicity	Ocular cystinosis Nephropathic cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_559490847	2 SubmittersRCV001127035 RCV001127036 RCV002556771
NM_004937.3(CTNS):c.433C>T (p.Gln145Ter)	SNV Germline	Chr17:3655324	Pathogenic	Cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases	Criteria Provided Single Submitter		rs_2076101632	2 SubmittersRCV001828636 RCV002561138
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		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		rs_1597619719	1 SubmittersRCV002561869
NM_004937.3(CTNS):c.790C>T (p.Gln264Ter)	SNV Germline	Chr17:3658113	Pathogenic	Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis	Criteria Provided Single Submitter		rs_2076198741	1 SubmittersRCV002563769
NM_004937.3(CTNS):c.140+2T>C	SNV Germline	Chr17:3647524	Pathogenic/Likely pathogenic	Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis Nephropathic cystinosis	Criteria Provided Multiple Submitters No Conflicts		rs_2075872773	2 SubmittersRCV002563779 RCV003473798
NM_004937.3(CTNS):c.681+1G>A	SNV Germline	Chr17:3656796	Pathogenic	Cystinosis Nephropathic cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis Nephropathic cystinosis	Criteria Provided Multiple Submitters No Conflicts		rs_749317721	5 SubmittersRCV001824939 RCV002245898 RCV002563996 RCV003473819
NM_004937.3(CTNS):c.300T>A (p.Tyr100Ter)	SNV Germline	Chr17:3655072	Pathogenic/Likely pathogenic	Ocular cystinosis Juvenile nephropathic cystinosis Nephropathic cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts		rs_376042415	2 SubmittersRCV001264083 RCV003770373
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		rs_2076100759	1 SubmittersRCV001264084
NM_004937.3(CTNS):c.634G>A (p.Ala212Thr)	SNV Germline	Chr17:3656748	Conflicting classifications of pathogenicity	Cystinosis Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Nephropathic cystinosis	Criteria Provided Conflicting Classifications		rs_768600603	3 SubmittersRCV001278487 RCV002542900 RCV002480900
NM_004937.3(CTNS):c.635C>T (p.Ala212Val)	SNV Germline	Chr17:3656749	Pathogenic	Cystinosis Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis	Criteria Provided Single Submitter		rs_776658046	2 SubmittersRCV001835604 RCV002543797
NM_004937.3(CTNS):c.809C>T (p.Ser270Phe)	SNV Germline	Chr17:3658132	Likely pathogenic	Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases	Criteria Provided Single Submitter		rs_2150925336	1 SubmittersRCV002550249
NM_004937.3(CTNS):c.839A>G (p.Lys280Arg)	SNV Germline	Chr17:3658162	Pathogenic/Likely pathogenic	Cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases Nephropathic cystinosis	Criteria Provided Multiple Submitters No Conflicts		rs_2150925451	3 SubmittersRCV002242880 RCV002550250 RCV003469636
NM_004937.3(CTNS):c.852+1G>A	SNV Germline	Chr17:3658176	Likely pathogenic	Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases	Criteria Provided Single Submitter		rs_2150925483	1 SubmittersRCV003104056
NM_004937.3(CTNS):c.61G>T (p.Glu21Ter)	SNV Germline	Chr17:3640267	Pathogenic/Likely pathogenic	Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases Nephropathic cystinosis	Criteria Provided Multiple Submitters No Conflicts		rs_2150889009	2 SubmittersRCV002551566 RCV003473988
NM_004937.3(CTNS):c.274C>T (p.Gln92Ter)	SNV Germline	Chr17:3655046	Pathogenic	Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases	Criteria Provided Single Submitter		rs_2150919035	1 SubmittersRCV002551536
NM_004937.3(CTNS):c.735G>A (p.Trp245Ter)	SNV Germline	Chr17:3658058	Pathogenic	Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases	Criteria Provided Single Submitter		rs_2150925108	1 SubmittersRCV002551580
NM_004937.3(CTNS):c.682-9C>T	SNV Germline	Chr17:3657996	Conflicting classifications of pathogenicity	See cases Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_943621505	2 SubmittersRCV002252680 RCV002551591
NM_004937.3(CTNS):c.685G>A (p.Gly229Ser)	SNV Germline	Chr17:3658008	Conflicting classifications of pathogenicity	not specified Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_200336280	2 SubmittersRCV001844615 RCV002543318
NM_004937.3(CTNS):c.61+2T>C	SNV Germline	Chr17:3640269	Likely pathogenic	Ocular cystinosis Juvenile nephropathic cystinosis Nephropathic cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases Nephropathic cystinosis	Criteria Provided Multiple Submitters No Conflicts		rs_767289120	3 SubmittersRCV002052012 RCV002675467 RCV003475282
NM_004937.3(CTNS):c.546G>T (p.Trp182Cys)	SNV Germline	Chr17:3656571	Likely pathogenic	Ocular cystinosis Inborn genetic diseases Juvenile nephropathic cystinosis	Criteria Provided Single Submitter		rs_2150922764	1 SubmittersRCV002571228
NM_004937.3(CTNS):c.697G>A (p.Val233Met)	SNV Germline	Chr17:3658020	Conflicting classifications of pathogenicity	Ocular cystinosis Juvenile nephropathic cystinosis Nephropathic cystinosis Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_201058200	3 SubmittersRCV002051971 RCV002552955 RCV002552954
NM_004937.3(CTNS):c.1A>T (p.Met1Leu)	SNV Germline	Chr17:3640207	Pathogenic	Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases	Criteria Provided Single Submitter		rs_2075650925	1 SubmittersRCV002554156
NM_004937.3(CTNS):c.449G>A (p.Trp150Ter)	SNV Germline	Chr17:3655340	Pathogenic	Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases	Criteria Provided Single Submitter		rs_2076101974	1 SubmittersRCV002553659
NM_004937.3(CTNS):c.970+5G>A	SNV Germline	Chr17:3659980	Conflicting classifications of pathogenicity	Ocular cystinosis Inborn genetic diseases Juvenile nephropathic cystinosis not specified	Criteria Provided Conflicting Classifications		rs_753451110	2 SubmittersRCV002563619 RCV003155443
NM_004937.3(CTNS):c.922G>C (p.Gly308Arg)	SNV Germline	Chr17:3659927	Pathogenic	Ocular cystinosis Inborn genetic diseases Juvenile nephropathic cystinosis	Criteria Provided Single Submitter		rs_746307931	1 SubmittersRCV002569141
NM_004937.3(CTNS):c.61+1G>T	SNV Germline	Chr17:3640268	Likely pathogenic	Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases	Criteria Provided Single Submitter		rs_1555558116	1 SubmittersRCV002592624
NM_004937.3(CTNS):c.565C>T (p.Gln189Ter)	SNV Germline	Chr17:3656679	Pathogenic/Likely pathogenic	Cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases Nephropathic cystinosis	Criteria Provided Multiple Submitters No Conflicts		rs_1597654770	3 SubmittersRCV002271859 RCV003096120 RCV003471301
NM_004937.3(CTNS):c.286C>T (p.Gln96Ter)	SNV Germline	Chr17:3655058	Pathogenic/Likely pathogenic	Ocular cystinosis Juvenile nephropathic cystinosis Nephropathic cystinosis Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases Nephropathic cystinosis	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV002306745 RCV003099148 RCV004572228
NM_004937.3(CTNS):c.672C>A (p.Cys224Ter)	SNV Unknown	Chr17:3656786	Likely pathogenic	Nephropathic cystinosis Ocular cystinosis Juvenile nephropathic cystinosis	Criteria Provided Single Submitter			1 SubmittersRCV002307062
NM_004937.3(CTNS):c.715G>A (p.Gly239Ser)	SNV Germline	Chr17:3658038	Conflicting classifications of pathogenicity	Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV003076840 RCV004070410
NM_004937.3(CTNS):c.923G>T (p.Gly308Val)	SNV Germline	Chr17:3659928	Pathogenic	Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases	Criteria Provided Single Submitter			1 SubmittersRCV003041267
NM_004937.3(CTNS):c.141-24T>C	SNV Germline	Chr17:3648823	Pathogenic	Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases	Criteria Provided Single Submitter			1 SubmittersRCV002612623
NM_004937.3(CTNS):c.226-1G>C	SNV Germline	Chr17:3654997	Likely pathogenic	Ocular cystinosis Juvenile nephropathic cystinosis Inborn genetic diseases	Criteria Provided Single Submitter			1 SubmittersRCV002829960
NM_004937.3(CTNS):c.415T>C (p.Ser139Pro)	SNV Germline	Chr17:3655306	Likely pathogenic	Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis	Criteria Provided Single Submitter			1 SubmittersRCV002876039
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		rs_748094459	2 SubmittersRCV002962300 RCV003883204
NM_004937.3(CTNS):c.225+3A>T	SNV Germline	Chr17:3648934	Pathogenic/Likely pathogenic	Nephropathic cystinosis Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003475800 RCV003779167
NM_004937.3(CTNS):c.15G>A (p.Trp5Ter)	SNV Germline	Chr17:3640221	Pathogenic	Nephropathic cystinosis Inborn genetic diseases Ocular cystinosis Juvenile nephropathic cystinosis	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003475816 RCV003779169
NM_004937.3(CTNS):c.785G>A (p.Trp262Ter)	SNV Germline	Chr17:3658108	Likely pathogenic	Ocular cystinosis	Criteria Provided Single Submitter			1 SubmittersRCV003455885
NM_004937.3(CTNS):c.517T>C (p.Tyr173His)	SNV Germline	Chr17:3656542	Likely pathogenic	Inborn genetic diseases Juvenile nephropathic cystinosis Ocular cystinosis Nephropathic cystinosis	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003783688 RCV004527465
NM_004937.3(CTNS):c.562-1G>C	SNV Germline	Chr17:3656675	Likely pathogenic	Inborn genetic diseases Juvenile nephropathic cystinosis Ocular cystinosis	Criteria Provided Single Submitter			1 SubmittersRCV003783689
NM_004937.3(CTNS):c.943C>T (p.Gln315Ter)	SNV Germline	Chr17:3659948	Pathogenic	Inborn genetic diseases Juvenile nephropathic cystinosis Ocular cystinosis	Criteria Provided Single Submitter			1 SubmittersRCV003783690
NM_004937.3(CTNS):c.225+5G>A	SNV Germline	Chr17:3648936	Likely pathogenic	Inborn genetic diseases Juvenile nephropathic cystinosis Ocular cystinosis	Criteria Provided Single Submitter			1 SubmittersRCV003788406
NM_004937.3(CTNS):c.140+1G>A	SNV Germline	Chr17:3647523	Pathogenic	Inborn genetic diseases Juvenile nephropathic cystinosis Ocular cystinosis	Criteria Provided Single Submitter			1 SubmittersRCV003799064
NM_004937.3(CTNS):c.682-2A>C	SNV Germline	Chr17:3658003	Pathogenic	Inborn genetic diseases Juvenile nephropathic cystinosis Ocular cystinosis	Criteria Provided Single Submitter			1 SubmittersRCV003802290
NM_004937.3(CTNS):c.545G>A (p.Trp182Ter)	SNV Germline	Chr17:3656570	Pathogenic	Inborn genetic diseases Juvenile nephropathic cystinosis Ocular cystinosis	Criteria Provided Single Submitter			1 SubmittersRCV003812815

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

SNV
Germline

Chr17:3655305

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA340259

rs_113994205

11 SubmittersRCV000004693 RCV000723832 RCV000630473 RCV001276658 RCV002512763

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

SNV
Germline

Chr17:3656531

Likely pathogenic

Nephropathic cystinosis
Inborn genetic diseases
Ocular cystinosis
Juvenile nephropathic cystinosis

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

Criteria Provided
Multiple Submitters
No Conflicts

CA278463

rs_113994207

8 SubmittersRCV000004704 RCV000169004 RCV000514820 RCV000763395 RCV002512766 RCV001844005

NC_000017.11:g.3636418G>T

SNV
Germline

Chr17:3636418

Pathogenic

Ocular cystinosis

No Assertion Criteria Provided

rs_887657778

1 SubmittersRCV000004706

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

SNV
Germline

Chr17:3660280

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA278067

rs_121908127

11 SubmittersRCV000004708 RCV001193377 RCV001781181 RCV002512767 RCV003904807

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

SNV
Germline

Chr17:3659974

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA253164

rs_121908128

3 SubmittersRCV000004709 RCV002512768 RCV003466816

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

SNV
Germline

Chr17:3655307

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA116861

rs_267606754

8 SubmittersRCV000004711 RCV000004712 RCV000169140 RCV000258030 RCV002243621 RCV002512769

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

SNV
Germline

Chr17:3656498

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA342075

rs_113994206

9 SubmittersRCV000020624 RCV001276660 RCV001781295 RCV002243657 RCV002513140

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

SNV
Germline

Chr17:3656727

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA342077

rs_113994208

6 SubmittersRCV000020625 RCV000590697 RCV002513141 RCV003105775

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

SNV
Germline

Chr17:3656726

Conflicting classifications of pathogenicity

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

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 RCV001274178 RCV002518595

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

SNV
Germline

Chr17:3655273

Pathogenic/Likely pathogenic

Cystinosis
Nephropathic cystinosis
Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA10590106

rs_550254092

4 SubmittersRCV000258034 RCV000989680 RCV002519020

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

SNV
Germline

Chr17:3656569

Likely pathogenic

Cystinosis
Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases

Criteria Provided
Single Submitter

CA8291771

rs_764168489

2 SubmittersRCV000258035 RCV002519021

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

SNV
Germline

Chr17:3659927

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA8291955

rs_746307931

7 SubmittersRCV000258031 RCV000691400 RCV002051832 RCV002518787

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

SNV
Germline

Chr17:3659974

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8291966

rs_121908128

3 SubmittersRCV000329315 RCV001274185 RCV002519145

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

Criteria Provided
Conflicting Classifications

CA8291552

rs_146684402

5 SubmittersRCV000264244 RCV000322260 RCV000757141 RCV003165863 RCV002522934

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

SNV
Germline

Chr17:3647498

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8291557

rs_144751390

8 SubmittersRCV000325694 RCV000382522 RCV001532291 RCV001271645 RCV003910226 RCV002265730 RCV002521102

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

SNV
Germline

Chr17:3655335

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8291713

rs_199977728

5 SubmittersRCV000339986 RCV000403908 RCV000996452 RCV002521103 RCV002522939

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
Cystinosis
Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8291860

rs_142641674

3 SubmittersRCV000284539 RCV000374508 RCV001274180 RCV002522942

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

SNV
Germline

Chr17:3655103

Conflicting classifications of pathogenicity

Nephropathic cystinosis
Ocular cystinosis

Criteria Provided
Conflicting Classifications

CA16041834

rs_955833453

3 SubmittersRCV000410250 RCV000779215

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

SNV
Germline

Chr17:3656505

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8291753

rs_147565118

4 SubmittersRCV000588707 RCV001123961 RCV001271650 RCV001123960 RCV002530935

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

SNV
Germline

Chr17:3660224

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA8291997

rs_375952052

6 SubmittersRCV000664494 RCV001843534 RCV001829749 RCV002528837

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

SNV
Germline

Chr17:3656795

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_778414542

8 SubmittersRCV000668750 RCV001543503 RCV001829850 RCV002531208

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
Multiple Submitters
No Conflicts

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

rs_917630768

3 SubmittersRCV000666309 RCV002530676

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

SNV
Germline

Chr17:3648932

Pathogenic/Likely pathogenic

Nephropathic cystinosis
Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555561049

2 SubmittersRCV000673312 RCV002531336

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

SNV
Germline

Chr17:3656543

Conflicting classifications of pathogenicity

Nephropathic cystinosis
Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1555563446

2 SubmittersRCV000674853 RCV003768016

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

SNV
Germline

Chr17:3655313

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1436441738

6 SubmittersRCV000807325 RCV001816874 RCV002509548 RCV002537248 RCV003338814

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

SNV
Germline

Chr17:3655320

Pathogenic/Likely pathogenic

Inborn genetic diseases
Ocular cystinosis
Juvenile nephropathic cystinosis
Nephropathic cystinosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_1597647930

2 SubmittersRCV002537328 RCV003472408

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

SNV
Germline

Chr17:3647523

Pathogenic

Inborn genetic diseases
Ocular cystinosis
Juvenile nephropathic cystinosis

Criteria Provided
Single Submitter

rs_1567701415

1 SubmittersRCV002536032

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

SNV
Germline

Chr17:3658004

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1057516771

3 SubmittersRCV002245693 RCV002535938 RCV003473516

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

SNV
Germline

Chr17:3647443

Pathogenic

Inborn genetic diseases
Ocular cystinosis
Juvenile nephropathic cystinosis

Criteria Provided
Single Submitter

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
Cystinosis
Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_373998956

3 SubmittersRCV001126520 RCV001126521 RCV001830941 RCV002540064

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

SNV
Germline

Chr17:3655255

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_187396540

4 SubmittersRCV001276657 RCV002245723 RCV002539334 RCV003145228

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

SNV
Germline

Chr17:3658014

Pathogenic/Likely pathogenic

Ocular cystinosis
Juvenile nephropathic cystinosis
Nephropathic cystinosis
Nephropathic cystinosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_1463026342

2 SubmittersRCV000991398 RCV004569836

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

SNV
Germline

Chr17:3640272

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1407498555

3 SubmittersRCV002245839 RCV003467715 RCV002551408

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

SNV
Germline

Chr17:3655078

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_2076094603

2 SubmittersRCV001126522 RCV001128584 RCV002556755

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

SNV
Germline

Chr17:3656775

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_138270433

3 SubmittersRCV001126642 RCV001126641 RCV002482251 RCV002558246

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

SNV
Germline

Chr17:3658022

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_2076195866

2 SubmittersRCV001127033 RCV001127034 RCV002556770

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

SNV
Germline

Chr17:3658053

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_559490847

2 SubmittersRCV001127035 RCV001127036 RCV002556771

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

SNV
Germline

Chr17:3655324

Pathogenic

Cystinosis
Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases

Criteria Provided
Single Submitter

rs_2076101632

2 SubmittersRCV001828636 RCV002561138

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

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

rs_1597619719

1 SubmittersRCV002561869

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

SNV
Germline

Chr17:3658113

Pathogenic

Inborn genetic diseases
Ocular cystinosis
Juvenile nephropathic cystinosis

Criteria Provided
Single Submitter

rs_2076198741

1 SubmittersRCV002563769

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

SNV
Germline

Chr17:3647524

Pathogenic/Likely pathogenic

Inborn genetic diseases
Ocular cystinosis
Juvenile nephropathic cystinosis
Nephropathic cystinosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_2075872773

2 SubmittersRCV002563779 RCV003473798

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

SNV
Germline

Chr17:3656796

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_749317721

5 SubmittersRCV001824939 RCV002245898 RCV002563996 RCV003473819

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

SNV
Germline

Chr17:3655072

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_376042415

2 SubmittersRCV001264083 RCV003770373

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

rs_2076100759

1 SubmittersRCV001264084

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

SNV
Germline

Chr17:3656748

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_768600603

3 SubmittersRCV001278487 RCV002542900 RCV002480900

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

SNV
Germline

Chr17:3656749

Pathogenic

Cystinosis
Inborn genetic diseases
Ocular cystinosis
Juvenile nephropathic cystinosis

Criteria Provided
Single Submitter

rs_776658046

2 SubmittersRCV001835604 RCV002543797

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

SNV
Germline

Chr17:3658132

Likely pathogenic

Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases

Criteria Provided
Single Submitter

rs_2150925336

1 SubmittersRCV002550249

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

SNV
Germline

Chr17:3658162

Pathogenic/Likely pathogenic

Cystinosis
Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases
Nephropathic cystinosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_2150925451

3 SubmittersRCV002242880 RCV002550250 RCV003469636

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

SNV
Germline

Chr17:3658176

Likely pathogenic

Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases

Criteria Provided
Single Submitter

rs_2150925483

1 SubmittersRCV003104056

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

SNV
Germline

Chr17:3640267

Pathogenic/Likely pathogenic

Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases
Nephropathic cystinosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_2150889009

2 SubmittersRCV002551566 RCV003473988

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

SNV
Germline

Chr17:3655046

Pathogenic

Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases

Criteria Provided
Single Submitter

rs_2150919035

1 SubmittersRCV002551536

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

SNV
Germline

Chr17:3658058

Pathogenic

Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases

Criteria Provided
Single Submitter

rs_2150925108

1 SubmittersRCV002551580

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

SNV
Germline

Chr17:3657996

Conflicting classifications of pathogenicity

See cases
Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_943621505

2 SubmittersRCV002252680 RCV002551591

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

SNV
Germline

Chr17:3658008

Conflicting classifications of pathogenicity

not specified
Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_200336280

2 SubmittersRCV001844615 RCV002543318

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

SNV
Germline

Chr17:3640269

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_767289120

3 SubmittersRCV002052012 RCV002675467 RCV003475282

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

SNV
Germline

Chr17:3656571

Likely pathogenic

Ocular cystinosis
Inborn genetic diseases
Juvenile nephropathic cystinosis

Criteria Provided
Single Submitter

rs_2150922764

1 SubmittersRCV002571228

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

SNV
Germline

Chr17:3658020

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_201058200

3 SubmittersRCV002051971 RCV002552955 RCV002552954

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

SNV
Germline

Chr17:3640207

Pathogenic

Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases

Criteria Provided
Single Submitter

rs_2075650925

1 SubmittersRCV002554156

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

SNV
Germline

Chr17:3655340

Pathogenic

Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases

Criteria Provided
Single Submitter

rs_2076101974

1 SubmittersRCV002553659

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

SNV
Germline

Chr17:3659980

Conflicting classifications of pathogenicity

Ocular cystinosis
Inborn genetic diseases
Juvenile nephropathic cystinosis
not specified

Criteria Provided
Conflicting Classifications

rs_753451110

2 SubmittersRCV002563619 RCV003155443

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

SNV
Germline

Chr17:3659927

Pathogenic

Ocular cystinosis
Inborn genetic diseases
Juvenile nephropathic cystinosis

Criteria Provided
Single Submitter

rs_746307931

1 SubmittersRCV002569141

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

SNV
Germline

Chr17:3640268

Likely pathogenic

Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases

Criteria Provided
Single Submitter

rs_1555558116

1 SubmittersRCV002592624

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

SNV
Germline

Chr17:3656679

Pathogenic/Likely pathogenic

Cystinosis
Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases
Nephropathic cystinosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_1597654770

3 SubmittersRCV002271859 RCV003096120 RCV003471301

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

SNV
Germline

Chr17:3655058

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002306745 RCV003099148 RCV004572228

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

SNV
Unknown

Chr17:3656786

Likely pathogenic

Nephropathic cystinosis
Ocular cystinosis
Juvenile nephropathic cystinosis

Criteria Provided
Single Submitter

1 SubmittersRCV002307062

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

SNV
Germline

Chr17:3658038

Conflicting classifications of pathogenicity

Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003076840 RCV004070410

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

SNV
Germline

Chr17:3659928

Pathogenic

Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases

Criteria Provided
Single Submitter

1 SubmittersRCV003041267

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

SNV
Germline

Chr17:3648823

Pathogenic

Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases

Criteria Provided
Single Submitter

1 SubmittersRCV002612623

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

SNV
Germline

Chr17:3654997

Likely pathogenic

Ocular cystinosis
Juvenile nephropathic cystinosis
Inborn genetic diseases

Criteria Provided
Single Submitter

1 SubmittersRCV002829960

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

SNV
Germline

Chr17:3655306

Likely pathogenic

Inborn genetic diseases
Ocular cystinosis
Juvenile nephropathic cystinosis

Criteria Provided
Single Submitter

1 SubmittersRCV002876039

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

rs_748094459

2 SubmittersRCV002962300 RCV003883204

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

SNV
Germline

Chr17:3648934

Pathogenic/Likely pathogenic

Nephropathic cystinosis
Inborn genetic diseases
Ocular cystinosis
Juvenile nephropathic cystinosis

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003475800 RCV003779167

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

SNV
Germline

Chr17:3640221

Pathogenic

Nephropathic cystinosis
Inborn genetic diseases
Ocular cystinosis
Juvenile nephropathic cystinosis

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003475816 RCV003779169

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

SNV
Germline

Chr17:3658108

Likely pathogenic

Ocular cystinosis

Criteria Provided
Single Submitter

1 SubmittersRCV003455885

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

SNV
Germline

Chr17:3656542

Likely pathogenic

Inborn genetic diseases
Juvenile nephropathic cystinosis
Ocular cystinosis
Nephropathic cystinosis

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003783688 RCV004527465

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

SNV
Germline

Chr17:3656675

Likely pathogenic

Inborn genetic diseases
Juvenile nephropathic cystinosis
Ocular cystinosis

Criteria Provided
Single Submitter

1 SubmittersRCV003783689

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

SNV
Germline

Chr17:3659948

Pathogenic

Inborn genetic diseases
Juvenile nephropathic cystinosis
Ocular cystinosis

Criteria Provided
Single Submitter

1 SubmittersRCV003783690

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

SNV
Germline

Chr17:3648936

Likely pathogenic

Inborn genetic diseases
Juvenile nephropathic cystinosis
Ocular cystinosis

Criteria Provided
Single Submitter

1 SubmittersRCV003788406

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

SNV
Germline

Chr17:3647523

Pathogenic

Inborn genetic diseases
Juvenile nephropathic cystinosis
Ocular cystinosis

Criteria Provided
Single Submitter

1 SubmittersRCV003799064

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

SNV
Germline

Chr17:3658003

Pathogenic

Inborn genetic diseases
Juvenile nephropathic cystinosis
Ocular cystinosis

Criteria Provided
Single Submitter

1 SubmittersRCV003802290

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

SNV
Germline

Chr17:3656570

Pathogenic

Inborn genetic diseases
Juvenile nephropathic cystinosis
Ocular cystinosis

Criteria Provided
Single Submitter

1 SubmittersRCV003812815