ClinVar for MedGen (Select 1384792) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25011611.	NC_000017.10:g.(?_3539761)_3561464del GRCh37: Chr17:3539761-3561464	CTNS		Cystinosis	Pathogenic (Mar 9, 2023)	criteria provided, single submitter
Select item 24457742.	NM_004937.3(CTNS):c.850C>T (p.Gln284Ter) GRCh37: Chr17:3561467 GRCh38: Chr17:3658173	CTNS	Q137, Q284	Cystinosis	Likely pathogenic (Feb 10, 2023)	criteria provided, single submitter
Select item 24292083.	NM_004937.3(CTNS):c.1027_1038del (p.Ile343_Asp346del) GRCh37: Chr17:3563585-3563596 GRCh38: Chr17:3660291-3660302	CTNS		Cystinosis	Pathogenic (Jan 19, 2023)	criteria provided, single submitter
Select item 16985824.	NM_004937.3(CTNS):c.565C>T (p.Gln189Ter) GRCh37: Chr17:3559973 GRCh38: Chr17:3656679	CTNS, CTNS-AS1	Q189, Q42	Cystinosis, Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis	Pathogenic/Likely pathogenic (Jul 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16985385.	NC_000017.10:g.(?_3539761)_(3566398_?)del GRCh37: Chr17:3539761-3566398	CTNS, TAX1BP3		Cystinosis	Likely pathogenic (Jun 1, 2022)	criteria provided, single submitter
Select item 11652946.	NM_004937.3(CTNS):c.-635G>C GRCh37: Chr17:3539720 GRCh38: Chr17:3636426	CTNS		not provided, Inborn genetic diseases, Juvenile nephropathic cystinosis, Ocular cystinosis	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11030587.	NM_004937.3(CTNS):c.1029C>T (p.Ile343=) GRCh37: Chr17:3563588 GRCh38: Chr17:3660294	CTNS		Inborn genetic diseases, Juvenile nephropathic cystinosis, Ocular cystinosis	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 10907628.	NM_004937.3(CTNS):c.909C>T (p.Leu303=) GRCh37: Chr17:3563208 GRCh38: Chr17:3659914	CTNS		Inborn genetic diseases, Juvenile nephropathic cystinosis, Ocular cystinosis	Likely benign (Nov 2, 2022)	criteria provided, single submitter
Select item 10673469.	NM_004937.3(CTNS):c.839A>G (p.Lys280Arg) GRCh37: Chr17:3561456 GRCh38: Chr17:3658162	CTNS	K133R, K280R	Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis, Cystinosis	Pathogenic/Likely pathogenic (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104241510.	NM_004937.3(CTNS):c.1045TTC[1] (p.Phe350del) GRCh37: Chr17:3563602-3563604 GRCh38: Chr17:3660308-3660310	CTNS	F203del, F350del	Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis, Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 102063811.	NM_004937.3(CTNS):c.635C>T (p.Ala212Val) GRCh37: Chr17:3560043 GRCh38: Chr17:3656749	CTNS, CTNS-AS1	A212V, A65V	Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis	Pathogenic (Jun 29, 2022)	criteria provided, single submitter
Select item 99046612.	NM_004937.3(CTNS):c.634G>A (p.Ala212Thr) GRCh37: Chr17:3560042 GRCh38: Chr17:3656748	CTNS-AS1, CTNS	A212T, A65T	Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis	Conflicting interpretations of pathogenicity (May 13, 2022)	criteria provided, conflicting interpretations
Select item 99003313.	NM_004937.3(CTNS):c.554A>T (p.Tyr185Phe) GRCh37: Chr17:3559873 GRCh38: Chr17:3656579	CTNS, CTNS-AS1	Y185F, Y38F	Cystinosis	Uncertain significance (Apr 21, 2020)	no assertion criteria provided
Select item 99003214.	NM_004937.3(CTNS):c.534C>G (p.Ile178Met) GRCh37: Chr17:3559853 GRCh38: Chr17:3656559	CTNS, CTNS-AS1	I178M, I31M	Cystinosis	Uncertain significance (Aug 13, 2020)	no assertion criteria provided
Select item 99003115.	NM_004937.3(CTNS):c.386T>A (p.Val129Glu) GRCh37: Chr17:3558571 GRCh38: Chr17:3655277	CTNS, CTNS-AS1	V129E	Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 99003016.	NM_004937.3(CTNS):c.270A>T (p.Thr90=) GRCh37: Chr17:3558336 GRCh38: Chr17:3655042	CTNS, CTNS-AS1		Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis	Likely benign (Oct 31, 2022)	criteria provided, single submitter
Select item 99002917.	NM_004937.3(CTNS):c.226G>A (p.Val76Ile) GRCh37: Chr17:3558292 GRCh38: Chr17:3654998	CTNS-AS1, CTNS	V76I	Cystinosis	Uncertain significance (Apr 19, 2020)	no assertion criteria provided
Select item 99002818.	NM_004937.3(CTNS):c.140+3A>G GRCh37: Chr17:3550819 GRCh38: Chr17:3647525	CTNS		Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis	Uncertain significance (Dec 8, 2021)	criteria provided, single submitter
Select item 99002719.	NM_004937.3(CTNS):c.123C>T (p.Asn41=) GRCh37: Chr17:3550799 GRCh38: Chr17:3647505	CTNS		Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis	Likely benign (Oct 27, 2022)	criteria provided, single submitter
Select item 99002620.	NM_004937.3(CTNS):c.-643G>A GRCh37: Chr17:3539712 GRCh38: Chr17:3636418	CTNS		Cystinosis	Uncertain significance (Apr 17, 2020)	no assertion criteria provided
Select item 99002521.	NM_004937.3(CTNS):c.-645C>T GRCh37: Chr17:3539710 GRCh38: Chr17:3636416	CTNS		Cystinosis	Uncertain significance (Apr 17, 2020)	no assertion criteria provided
Select item 98818722.	NM_001031681.2:c.(225+1_226-1)_(852+1_853-1)del	CTNS		Cystinosis	Pathogenic (Apr 11, 2015)	no assertion criteria provided
Select item 96652823.	NM_004937.3(CTNS):c.681+1G>A GRCh37: Chr17:3560090 GRCh38: Chr17:3656796	CTNS-AS1, CTNS		Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis, Cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis	Pathogenic (Mar 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 95241924.	NM_004937.3(CTNS):c.139C>T (p.Arg47Trp) GRCh37: Chr17:3550815 GRCh38: Chr17:3647521	CTNS	R47W	Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 93544425.	NM_004937.3(CTNS):c.433C>T (p.Gln145Ter) GRCh37: Chr17:3558618 GRCh38: Chr17:3655324	CTNS, CTNS-AS1	Q145*	Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Pathogenic (Aug 13, 2021)	criteria provided, single submitter
Select item 88914026.	NM_004937.3(CTNS):c.454C>T (p.Arg152Trp) GRCh37: Chr17:3558639 GRCh38: Chr17:3655345	CTNS, CTNS-AS1	R152W, R5W	Ocular cystinosis, Nephropathic cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis, Ocular cystinosis	Uncertain significance (Feb 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85214127.	NM_004937.3(CTNS):c.61_61+2del GRCh37: Chr17:3543559-3543561 GRCh38: Chr17:3640265-3640267	CTNS		Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis, Cystinosis	Pathogenic/Likely pathogenic (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 84109328.	NM_004937.3(CTNS):c.1029C>A (p.Ile343=) GRCh37: Chr17:3563588 GRCh38: Chr17:3660294	CTNS		Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 79872029.	NM_004937.3(CTNS):c.621C>T (p.Phe207=) GRCh37: Chr17:3560029 GRCh38: Chr17:3656735	CTNS, CTNS-AS1		Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 78961830.	NM_004937.3(CTNS):c.461+10del GRCh37: Chr17:3558656 GRCh38: Chr17:3655362	CTNS-AS1, CTNS		Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Likely benign (Nov 3, 2022)	criteria provided, single submitter
Select item 78664431.	NM_004937.3(CTNS):c.327C>T (p.Thr109=) GRCh37: Chr17:3558393 GRCh38: Chr17:3655099	CTNS, CTNS-AS1		Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Benign/Likely benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 78664332.	NM_004937.3(CTNS):c.220G>A (p.Asp74Asn) GRCh37: Chr17:3552220 GRCh38: Chr17:3648926	CTNS	D74N	Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Likely benign (Oct 31, 2022)	criteria provided, single submitter
Select item 76598233.	NM_004937.3(CTNS):c.510C>T (p.Phe170=) GRCh37: Chr17:3559829 GRCh38: Chr17:3656535	CTNS, CTNS-AS1		Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 76446334.	NM_004937.3(CTNS):c.117G>A (p.Ser39=) GRCh37: Chr17:3550793 GRCh38: Chr17:3647499	CTNS		Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 76184035.	NM_004937.3(CTNS):c.341G>A (p.Arg114His) GRCh37: Chr17:3558526 GRCh38: Chr17:3655232	CTNS, CTNS-AS1	R114H	Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 75775536.	NM_004937.3(CTNS):c.852+8C>T GRCh37: Chr17:3561477 GRCh38: Chr17:3658183	CTNS		Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Likely benign (Oct 18, 2022)	criteria provided, single submitter
Select item 74059737.	NM_004937.3(CTNS):c.684C>T (p.Arg228=) GRCh37: Chr17:3561301 GRCh38: Chr17:3658007	CTNS, CTNS-AS1		Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Likely benign (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 73645438.	NM_004937.3(CTNS):c.966C>T (p.Asn322=) GRCh37: Chr17:3563265 GRCh38: Chr17:3659971	CTNS		Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 73069239.	NM_004937.3(CTNS):c.897T>C (p.Ile299=) GRCh37: Chr17:3563196 GRCh38: Chr17:3659902	CTNS		Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis	Likely benign (Oct 29, 2022)	criteria provided, single submitter
Select item 71678340.	NM_004937.3(CTNS):c.834G>A (p.Leu278=) GRCh37: Chr17:3561451 GRCh38: Chr17:3658157	CTNS		Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Benign (Oct 31, 2022)	criteria provided, single submitter
Select item 71541441.	NM_004937.3(CTNS):c.534C>T (p.Ile178=) GRCh37: Chr17:3559853 GRCh38: Chr17:3656559	CTNS, CTNS-AS1		Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Benign (Oct 13, 2022)	criteria provided, single submitter
Select item 71482342.	NM_004937.3(CTNS):c.285A>T (p.Gly95=) GRCh37: Chr17:3558351 GRCh38: Chr17:3655057	CTNS, CTNS-AS1		Ocular cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases, Nephropathic cystinosis	Conflicting interpretations of pathogenicity (Nov 4, 2022)	criteria provided, conflicting interpretations
Select item 71293843.	NM_004937.3(CTNS):c.364G>A (p.Ala122Thr) GRCh37: Chr17:3558549 GRCh38: Chr17:3655255	CTNS, CTNS-AS1	A122T	Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis, not provided, Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 65188644.	NM_004937.3(CTNS):c.422C>T (p.Ser141Phe) GRCh37: Chr17:3558607 GRCh38: Chr17:3655313	CTNS, CTNS-AS1	S141F	Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis, not provided, Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases, Cystinosis	Pathogenic/Likely pathogenic (Dec 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 64861645.	NM_004937.3(CTNS):c.833T>C (p.Leu278Pro) GRCh37: Chr17:3561450 GRCh38: Chr17:3658156	CTNS	L278P, L131P	Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Uncertain significance (Aug 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 63277946.	NM_004937.3(CTNS):c.423del (p.Phe142fs) GRCh37: Chr17:3558607 GRCh38: Chr17:3655313	CTNS, CTNS-AS1	F142fs	Cystinosis	Likely pathogenic (Aug 10, 2018)	criteria provided, single submitter
Select item 57446847.	NM_004937.3(CTNS):c.1082C>T (p.Pro361Leu) GRCh37: Chr17:3563641 GRCh38: Chr17:3660347	CTNS	P361L, P214L	Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Likely benign (Oct 29, 2022)	criteria provided, single submitter
Select item 55892348.	NM_004937.3(CTNS):c.-634C>T GRCh37: Chr17:3539721 GRCh38: Chr17:3636427	CTNS		not provided	Benign (Oct 5, 2018)	criteria provided, single submitter
Select item 55333049.	NM_004937.3(CTNS):c.681G>A (p.Glu227=) GRCh37: Chr17:3560089 GRCh38: Chr17:3656795	CTNS-AS1, CTNS		Nephropathic cystinosis, not provided, Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Pathogenic (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 55168850.	NM_004937.3(CTNS):c.696_697dup (p.Val233fs) GRCh37: Chr17:3561309-3561310 GRCh38: Chr17:3658015-3658016	CTNS, CTNS-AS1	V233fs, V86fs	Nephropathic cystinosis, Cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis	Pathogenic/Likely pathogenic (Feb 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55129051.	NM_004937.3(CTNS):c.829dup (p.Thr277fs) GRCh37: Chr17:3561445-3561446 GRCh38: Chr17:3658151-3658152	CTNS	T277fs, T130fs	Nephropathic cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis	Pathogenic (Feb 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52603052.	NM_004937.3(CTNS):c.971-12G>A GRCh37: Chr17:3563518 GRCh38: Chr17:3660224	CTNS		Infantile nephropathic cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases, Nephropathic cystinosis	Pathogenic (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 50500953.	NM_004937.3(CTNS):c.870C>G (p.Tyr290Ter) GRCh37: Chr17:3563169 GRCh38: Chr17:3659875	CTNS	Y290, Y143	Cystinosis	Pathogenic/Likely pathogenic (Dec 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 49627754.	NM_004937.3(CTNS):c.853-2A>G GRCh37: Chr17:3563150 GRCh38: Chr17:3659856	CTNS		Cystinosis, Nephropathic cystinosis	Pathogenic/Likely pathogenic (Apr 18, 2017)	criteria provided, multiple submitters, no conflicts
Select item 49627655.	NM_004937.3(CTNS):c.771_793del (p.Gly258fs) GRCh37: Chr17:3561376-3561398 GRCh38: Chr17:3658082-3658104	CTNS	G258fs, G111fs	not provided, Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases, Cystinosis, Nephropathic cystinosis	Pathogenic (Aug 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 49627556.	NM_004937.3(CTNS):c.480C>T (p.Phe160=) GRCh37: Chr17:3559799 GRCh38: Chr17:3656505	CTNS, CTNS-AS1		not specified, Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases, Nephropathic cystinosis, Ocular cystinosis	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 45578757.	NM_004937.3(CTNS):c.206_210del (p.Ile69fs) GRCh37: Chr17:3552206-3552210 GRCh38: Chr17:3648912-3648916	CTNS	I69fs	Cystinosis, Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis	Pathogenic (Aug 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 37108458.	NM_004937.3(CTNS):c.646dup (p.Thr216fs) GRCh37: Chr17:3560053-3560054 GRCh38: Chr17:3656759-3656760	CTNS, CTNS-AS1	T216fs, T69fs	Nephropathic cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis	Pathogenic (Jul 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32291459.	NM_004937.3(CTNS):c.*2383dup GRCh37: Chr17:3566045-3566046 GRCh38: Chr17:3662751-3662752	CTNS		Cystinosis, Nephropathic cystinosis	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 32290660.	NM_004937.3(CTNS):c.1956_1957del GRCh37: Chr17:3565606-3565607 GRCh38: Chr17:3662312-3662313	CTNS		Cystinosis, Nephropathic cystinosis	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32290561.	NM_004937.3(CTNS):c.*1957del GRCh37: Chr17:3565606 GRCh38: Chr17:3662312	CTNS		Cystinosis, Nephropathic cystinosis	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 32290462.	NM_004937.3(CTNS):c.*1957dup GRCh37: Chr17:3565605-3565606 GRCh38: Chr17:3662311-3662312	CTNS		Cystinosis, Nephropathic cystinosis	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32288463.	NM_004937.3(CTNS):c.1176_1179del GRCh37: Chr17:3564838-3564841 GRCh38: Chr17:3661544-3661547	CTNS		Cystinosis, Nephropathic cystinosis	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32288364.	NM_004937.3(CTNS):c.*1174CT[1] GRCh37: Chr17:3564837-3564838 GRCh38: Chr17:3661543-3661544	CTNS		Cystinosis, Nephropathic cystinosis	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 32287665.	NM_004937.3(CTNS):c.1046_1047dup GRCh37: Chr17:3564708-3564709 GRCh38: Chr17:3661414-3661415	CTNS		Cystinosis, Nephropathic cystinosis	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32287566.	NM_004937.3(CTNS):c.*1047dup GRCh37: Chr17:3564708-3564709 GRCh38: Chr17:3661414-3661415	CTNS		Cystinosis, Nephropathic cystinosis	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32287467.	NM_004937.3(CTNS):c.1033_1034insGGC GRCh37: Chr17:3564695-3564696 GRCh38: Chr17:3661401-3661402	CTNS		Cystinosis, Nephropathic cystinosis	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32287368.	NM_004937.3(CTNS):c.1031_1033dup GRCh37: Chr17:3564693-3564694 GRCh38: Chr17:3661399-3661400	CTNS		Nephropathic cystinosis, Cystinosis	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 32287069.	NM_004937.3(CTNS):c.1024_1030delinsTGAAGCTGTC GRCh37: Chr17:3564687-3564693 GRCh38: Chr17:3661393-3661399	CTNS		Nephropathic cystinosis, Cystinosis	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32284470.	NM_004937.3(CTNS):c.970G>A (p.Asp324Asn) GRCh37: Chr17:3563269 GRCh38: Chr17:3659975	CTNS	D324N, D177N	Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis, not provided, Nephropathic cystinosis, Ocular cystinosis	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32284271.	NM_004937.3(CTNS):c.695G>A (p.Arg232His) GRCh37: Chr17:3561312 GRCh38: Chr17:3658018	CTNS	R232H, R85H	Ocular cystinosis, Nephropathic cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Oct 8, 2022)	criteria provided, conflicting interpretations
Select item 32283672.	NM_004937.3(CTNS):c.116C>T (p.Ser39Leu) GRCh37: Chr17:3550792 GRCh38: Chr17:3647498	CTNS	S39L	Nephropathic cystinosis, not specified, not provided, Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases, Ocular cystinosis	Conflicting interpretations of pathogenicity (Oct 20, 2022)	criteria provided, conflicting interpretations
Select item 32283573.	NM_004937.3(CTNS):c.108C>T (p.Asn36=) GRCh37: Chr17:3550784 GRCh38: Chr17:3647490	CTNS		not specified, Ocular cystinosis, Nephropathic cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32283474.	NM_004937.3(CTNS):c.94G>A (p.Val32Ile) GRCh37: Chr17:3550770 GRCh38: Chr17:3647476	CTNS	V32I	not provided, Inborn genetic diseases, Cystinosis, Nephropathic cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Feb 27, 2023)	criteria provided, conflicting interpretations
Select item 32283175.	NM_004937.3(CTNS):c.-23AG[1] GRCh37: Chr17:3540607-3540608 GRCh38: Chr17:3637313-3637314	CTNS		Nephropathic cystinosis, Cystinosis	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 28825476.	NM_004937.3(CTNS):c.462-7C>A GRCh37: Chr17:3559774 GRCh38: Chr17:3656480	CTNS, CTNS-AS1		not specified, Nephropathic cystinosis, Ocular cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Benign/Likely benign (Oct 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28419477.	NM_004937.3(CTNS):c.969C>T (p.Asn323=) GRCh37: Chr17:3563268 GRCh38: Chr17:3659974	CTNS		Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases, not provided	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 26731078.	NM_004937.3(CTNS):c.922G>A (p.Gly308Arg) GRCh37: Chr17:3563221 GRCh38: Chr17:3659927	CTNS	G308R, G161R	Cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis, Nephropathic cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Pathogenic (Apr 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 26730879.	NM_004937.3(CTNS):c.544T>C (p.Trp182Arg) GRCh37: Chr17:3559863 GRCh38: Chr17:3656569	CTNS, CTNS-AS1	W182R, W35R	Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Likely pathogenic (Mar 12, 2022)	criteria provided, single submitter
Select item 26730780.	NM_004937.3(CTNS):c.397A>T (p.Ile133Phe) GRCh37: Chr17:3558582 GRCh38: Chr17:3655288	CTNS-AS1, CTNS	I133F	Cystinosis	not provided	no assertion provided
Select item 26730681.	NM_004937.3(CTNS):c.382C>T (p.Gln128Ter) GRCh37: Chr17:3558567 GRCh38: Chr17:3655273	CTNS, CTNS-AS1	Q128*	Cystinosis, Nephropathic cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Pathogenic/Likely pathogenic (Aug 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25715782.	NM_004937.3(CTNS):c.779C>T (p.Thr260Ile) GRCh37: Chr17:3561396 GRCh38: Chr17:3658102	CTNS	T260I, T113I	not specified, Ocular cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases, not provided, Nephropathic cystinosis	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25715683.	NM_004937.3(CTNS):c.561+4C>T GRCh37: Chr17:3559884 GRCh38: Chr17:3656590	CTNS-AS1, CTNS		Ocular cystinosis, Nephropathic cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases, not specified, not provided	Conflicting interpretations of pathogenicity (Nov 4, 2022)	criteria provided, conflicting interpretations
Select item 25715484.	NM_004937.3(CTNS):c.504G>A (p.Thr168=) GRCh37: Chr17:3559823 GRCh38: Chr17:3656529	CTNS, CTNS-AS1		not specified, Nephropathic cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases, not provided, Ocular cystinosis	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25715385.	NM_004937.3(CTNS):c.462T>C (p.Ser154=) GRCh37: Chr17:3559781 GRCh38: Chr17:3656487	CTNS, CTNS-AS1		Ocular cystinosis, Nephropathic cystinosis, not provided, Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases, not specified	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25320986.	NM_004937.3(CTNS):c.120del (p.Asn41fs) GRCh37: Chr17:3550795 GRCh38: Chr17:3647501	CTNS	N41fs	Cystinosis	Pathogenic	no assertion criteria provided
Select item 25320887.	NM_004937.3(CTNS):c.91dup (p.Val31fs) GRCh37: Chr17:3550766-3550767 GRCh38: Chr17:3647472-3647473	CTNS	V31fs	Cystinosis	Pathogenic	no assertion criteria provided
Select item 25320788.	NM_004937.2:c.661insT	CTNS		Cystinosis	Pathogenic	no assertion criteria provided
Select item 25320689.	NM_004937.3(CTNS):c.257_258del (p.Ser86fs) GRCh37: Chr17:3558321-3558322 GRCh38: Chr17:3655027-3655028	CTNS, CTNS-AS1	S86fs	Cystinosis, Nephropathic cystinosis	Pathogenic (Jan 1, 2020)	no assertion criteria provided
Select item 25320590.	NM_004937.3(CTNS):c.323del (p.Gln108fs) GRCh37: Chr17:3558389 GRCh38: Chr17:3655095	CTNS, CTNS-AS1	Q108fs	Nephropathic cystinosis	Likely pathogenic (Jan 11, 2018)	criteria provided, single submitter
Select item 19852491.	NM_004937.3(CTNS):c.356G>A (p.Arg119His) GRCh37: Chr17:3558541 GRCh38: Chr17:3655247	CTNS, CTNS-AS1	R119H	Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis, not specified, Ocular cystinosis, Nephropathic cystinosis	Benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18906792.	NM_004937.3(CTNS):c.561+1del GRCh37: Chr17:3559880 GRCh38: Chr17:3656586	CTNS, CTNS-AS1		Cystinosis, Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis, Nephropathic cystinosis	Pathogenic/Likely pathogenic (Sep 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 18883493.	NM_004937.3(CTNS):c.18_21del (p.Thr7fs) GRCh37: Chr17:3543516-3543519 GRCh38: Chr17:3640222-3640225	CTNS	T7fs	Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis, Cystinosis, Infantile nephropathic cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis, not provided, Nephropathic cystinosis	Pathogenic (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18871894.	NM_004937.3(CTNS):c.611ACG[1] (p.Asp205del) GRCh37: Chr17:3560019-3560021 GRCh38: Chr17:3656725-3656727	CTNS, CTNS-AS1	D205del, D58del	Cystinosis, Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis	Pathogenic/Likely pathogenic (Apr 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18871495.	NM_004937.3(CTNS):c.926dup (p.Ser310fs) GRCh37: Chr17:3563220-3563221 GRCh38: Chr17:3659926-3659927	CTNS	S310fs, S163fs	Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis, Cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis, Nephropathic cystinosis	Pathogenic/Likely pathogenic (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 2144296.	NM_004937.3(CTNS):c.559_561+24del GRCh37: Chr17:3559867-3559893 GRCh38: Chr17:3656573-3656599	CTNS, CTNS-AS1		Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases, Infantile nephropathic cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis, Nephropathic cystinosis	Pathogenic/Likely pathogenic (Jul 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 2144097.	NM_004937.3(CTNS):c.613G>A (p.Asp205Asn) GRCh37: Chr17:3560021 GRCh38: Chr17:3656727	CTNS, CTNS-AS1	D205N, D58N	Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases, Cystinosis, not provided	Pathogenic (Jan 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 2143998.	NM_004937.3(CTNS):c.473T>C (p.Leu158Pro) GRCh37: Chr17:3559792 GRCh38: Chr17:3656498	CTNS, CTNS-AS1	L158P, L11P	Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases, Cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis, not provided	Pathogenic/Likely pathogenic (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 2143899.	NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del) GRCh37: Chr17:3552198-3552218 GRCh38: Chr17:3648904-3648924	CTNS		Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases, Cystinosis, Ocular cystinosis, Juvenile nephropathic cystinosis, Nephropathic cystinosis, Nephropathic cystinosis	Pathogenic/Likely pathogenic (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4458100.	NM_004937.3(CTNS):c.416C>T (p.Ser139Phe) GRCh37: Chr17:3558601 GRCh38: Chr17:3655307	CTNS, CTNS-AS1	S139F	Juvenile nephropathic cystinosis, Ocular cystinosis, Inborn genetic diseases, Juvenile nephropathic cystinosis, Ocular cystinosis, Nephropathic cystinosis, Nephropathic cystinosis	Pathogenic/Likely pathogenic (Oct 8, 2022)	criteria provided, multiple submitters, no conflicts

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