ClinVar for MedGen (Select 419313) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24252421.	NC_000017.10:g.(?_3533479)_(3571820_?)dup GRCh37: Chr17:3533479-3571820	CTNS, SHPK, TAX1BP3		Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases, not provided	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 24252412.	NC_000017.10:g.(?_3558272)_(3560109_?)del GRCh37: Chr17:3558272-3560109	CTNS		Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Pathogenic (Sep 21, 2022)	criteria provided, single submitter
Select item 24252403.	NC_000017.10:g.(?_3543501)_(3552245_?)del GRCh37: Chr17:3543501-3552245	CTNS		Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Pathogenic (Dec 6, 2021)	criteria provided, single submitter
Select item 24252394.	NC_000017.10:g.(?_3543501)_(3543581_?)del GRCh37: Chr17:3543501-3543581	CTNS		Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Pathogenic (Nov 18, 2021)	criteria provided, single submitter
Select item 24160215.	NM_004937.3(CTNS):c.751A>G (p.Thr251Ala) GRCh37: Chr17:3561368 GRCh38: Chr17:3658074	CTNS	T104A, T251A	Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 22036066.	NM_004937.3(CTNS):c.853-18_853-7del GRCh37: Chr17:3563122-3563133 GRCh38: Chr17:3659828-3659839	CTNS		Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 22017267.	NM_004937.3(CTNS):c.140+20G>A GRCh37: Chr17:3550836 GRCh38: Chr17:3647542	CTNS		Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Likely benign (Aug 29, 2022)	criteria provided, single submitter
Select item 22011398.	NM_004937.3(CTNS):c.794T>C (p.Phe265Ser) GRCh37: Chr17:3561411 GRCh38: Chr17:3658117	CTNS	F118S, F265S	Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 22009169.	NM_004937.3(CTNS):c.48C>T (p.Leu16=) GRCh37: Chr17:3543548 GRCh38: Chr17:3640254	CTNS		Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 220009310.	NM_004937.3(CTNS):c.1042G>A (p.Val348Ile) GRCh37: Chr17:3563601 GRCh38: Chr17:3660307	CTNS	V348I, V201I	Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 219627211.	NM_004937.3(CTNS):c.1036G>A (p.Asp346Asn) GRCh37: Chr17:3563595 GRCh38: Chr17:3660301	CTNS	D346N, D199N	Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Uncertain significance (Oct 7, 2022)	criteria provided, single submitter
Select item 219488612.	NM_004937.3(CTNS):c.141-24T>C GRCh37: Chr17:3552117 GRCh38: Chr17:3648823	CTNS		Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Pathogenic (Aug 19, 2022)	criteria provided, single submitter
Select item 218771413.	NM_004937.3(CTNS):c.86C>T (p.Pro29Leu) GRCh37: Chr17:3550762 GRCh38: Chr17:3647468	CTNS	P29L	Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 218486914.	NM_004937.3(CTNS):c.49G>A (p.Val17Ile) GRCh37: Chr17:3543549 GRCh38: Chr17:3640255	CTNS	V17I	Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Uncertain significance (Apr 10, 2022)	criteria provided, single submitter
Select item 218454315.	NM_004937.3(CTNS):c.975G>A (p.Gln325=) GRCh37: Chr17:3563534 GRCh38: Chr17:3660240	CTNS		Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis	Likely benign (Dec 7, 2021)	criteria provided, single submitter
Select item 218245716.	NM_004937.3(CTNS):c.225+12A>G GRCh37: Chr17:3552237 GRCh38: Chr17:3648943	CTNS		Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 217849317.	NM_004937.3(CTNS):c.70G>A (p.Val24Ile) GRCh37: Chr17:3550746 GRCh38: Chr17:3647452	CTNS	V24I	Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis	Uncertain significance (Jul 18, 2022)	criteria provided, single submitter
Select item 217832818.	NM_004937.3(CTNS):c.376A>G (p.Ile126Val) GRCh37: Chr17:3558561 GRCh38: Chr17:3655267	CTNS, CTNS-AS1	I126V	Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 217746719.	NM_004937.3(CTNS):c.76C>T (p.Leu26Phe) GRCh37: Chr17:3550752 GRCh38: Chr17:3647458	CTNS	L26F	Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Uncertain significance (Jun 7, 2022)	criteria provided, single submitter
Select item 217286720.	NM_004937.3(CTNS):c.741C>T (p.Phe247=) GRCh37: Chr17:3561358 GRCh38: Chr17:3658064	CTNS		Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 217226321.	NM_004937.3(CTNS):c.682-16C>T GRCh37: Chr17:3561283 GRCh38: Chr17:3657989	CTNS-AS1, CTNS		Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Likely benign (Jun 2, 2022)	criteria provided, single submitter
Select item 217117722.	NM_004937.3(CTNS):c.636G>A (p.Ala212=) GRCh37: Chr17:3560044 GRCh38: Chr17:3656750	CTNS, CTNS-AS1		Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 217040223.	NM_004937.3(CTNS):c.465C>T (p.Val155=) GRCh37: Chr17:3559784 GRCh38: Chr17:3656490	CTNS, CTNS-AS1		Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis	Likely benign (Apr 29, 2022)	criteria provided, single submitter
Select item 216832424.	NM_004937.3(CTNS):c.140+19C>T GRCh37: Chr17:3550835 GRCh38: Chr17:3647541	CTNS		Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis	Likely benign (Jun 5, 2022)	criteria provided, single submitter
Select item 216510725.	NM_004937.3(CTNS):c.681+17C>T GRCh37: Chr17:3560106 GRCh38: Chr17:3656812	CTNS, CTNS-AS1		Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 216235726.	NM_004937.3(CTNS):c.278A>G (p.Asn93Ser) GRCh37: Chr17:3558344 GRCh38: Chr17:3655050	CTNS, CTNS-AS1	N93S	Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases, Inborn genetic diseases	Uncertain significance (Mar 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 216226827.	NM_004937.3(CTNS):c.61+10G>T GRCh37: Chr17:3543571 GRCh38: Chr17:3640277	CTNS		Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Likely benign (Feb 21, 2022)	criteria provided, single submitter
Select item 216166328.	NM_004937.3(CTNS):c.677A>G (p.Tyr226Cys) GRCh37: Chr17:3560085 GRCh38: Chr17:3656791	CTNS, CTNS-AS1	Y79C, Y226C	Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases, Inborn genetic diseases	Uncertain significance (Jun 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 216028629.	NM_004937.3(CTNS):c.461+13G>A GRCh37: Chr17:3558659 GRCh38: Chr17:3655365	CTNS-AS1, CTNS		Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Likely benign (Apr 26, 2022)	criteria provided, single submitter
Select item 216002930.	NM_004937.3(CTNS):c.514G>T (p.Ala172Ser) GRCh37: Chr17:3559833 GRCh38: Chr17:3656539	CTNS-AS1, CTNS	A25S, A172S	Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 215998931.	NM_004937.3(CTNS):c.588C>A (p.Asn196Lys) GRCh37: Chr17:3559996 GRCh38: Chr17:3656702	CTNS-AS1, CTNS	N196K, N49K	Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 215794832.	NM_004937.3(CTNS):c.980C>T (p.Thr327Met) GRCh37: Chr17:3563539 GRCh38: Chr17:3660245	CTNS	T180M, T327M	Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 215767433.	NM_004937.3(CTNS):c.971-13C>T GRCh37: Chr17:3563517 GRCh38: Chr17:3660223	CTNS		Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis	Likely benign (Dec 20, 2021)	criteria provided, single submitter
Select item 215594834.	NM_004937.3(CTNS):c.140+6T>C GRCh37: Chr17:3550822 GRCh38: Chr17:3647528	CTNS		Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 215529635.	NM_004937.3(CTNS):c.673C>T (p.Leu225=) GRCh37: Chr17:3560081 GRCh38: Chr17:3656787	CTNS, CTNS-AS1		Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 214985536.	NM_004937.3(CTNS):c.878G>A (p.Ser293Asn) GRCh37: Chr17:3563177 GRCh38: Chr17:3659883	CTNS	S146N, S293N	Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 214760137.	NM_004937.3(CTNS):c.462-95_462-19del GRCh37: Chr17:3559684-3559760 GRCh38: Chr17:3656390-3656466	CTNS-AS1, CTNS		Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 214676138.	NM_004937.3(CTNS):c.715G>A (p.Gly239Ser) GRCh37: Chr17:3561332 GRCh38: Chr17:3658038	CTNS	G92S, G239S	Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 214553539.	NM_004937.3(CTNS):c.860T>C (p.Met287Thr) GRCh37: Chr17:3563159 GRCh38: Chr17:3659865	CTNS	M140T, M287T	Juvenile nephropathic cystinosis, Ocular cystinosis, Inborn genetic diseases	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 214339540.	NM_004937.3(CTNS):c.221A>G (p.Asp74Gly) GRCh37: Chr17:3552221 GRCh38: Chr17:3648927	CTNS	D74G	Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Uncertain significance (Apr 3, 2022)	criteria provided, single submitter
Select item 214134241.	NM_004937.3(CTNS):c.461+15C>T GRCh37: Chr17:3558661 GRCh38: Chr17:3655367	CTNS, CTNS-AS1		Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 214063442.	NM_004937.3(CTNS):c.616G>A (p.Val206Ile) GRCh37: Chr17:3560024 GRCh38: Chr17:3656730	CTNS-AS1, CTNS	V59I, V206I	Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 213788143.	NM_004937.3(CTNS):c.1036_1047del (p.Asp346_Phe349del) GRCh37: Chr17:3563587-3563598 GRCh38: Chr17:3660293-3660304	CTNS		Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Uncertain significance (Jul 16, 2022)	criteria provided, single submitter
Select item 213788044.	NM_004937.3(CTNS):c.923G>T (p.Gly308Val) GRCh37: Chr17:3563222 GRCh38: Chr17:3659928	CTNS	G308V, G161V	Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Pathogenic (Jul 31, 2022)	criteria provided, single submitter
Select item 211722245.	NM_004937.3(CTNS):c.150A>G (p.Leu50=) GRCh37: Chr17:3552150 GRCh38: Chr17:3648856	CTNS		Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 211268646.	NM_004937.3(CTNS):c.918C>T (p.Phe306=) GRCh37: Chr17:3563217 GRCh38: Chr17:3659923	CTNS		Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Likely benign (Mar 15, 2022)	criteria provided, single submitter
Select item 211117447.	NM_004937.3(CTNS):c.289C>T (p.Leu97Phe) GRCh37: Chr17:3558355 GRCh38: Chr17:3655061	CTNS, CTNS-AS1	L97F	Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Uncertain significance (Mar 17, 2022)	criteria provided, single submitter
Select item 210771748.	NM_004937.3(CTNS):c.198T>C (p.Asn66=) GRCh37: Chr17:3552198 GRCh38: Chr17:3648904	CTNS		Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 210723849.	NM_004937.3(CTNS):c.971-8_971-6del GRCh37: Chr17:3563519-3563521 GRCh38: Chr17:3660225-3660227	CTNS		Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis	Likely benign (Mar 7, 2022)	criteria provided, single submitter
Select item 210666050.	NM_004937.3(CTNS):c.982C>G (p.Leu328Val) GRCh37: Chr17:3563541 GRCh38: Chr17:3660247	CTNS	L181V, L328V	Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis	Uncertain significance (Aug 2, 2022)	criteria provided, single submitter
Select item 209722651.	NM_004937.3(CTNS):c.972C>T (p.Asp324=) GRCh37: Chr17:3563531 GRCh38: Chr17:3660237	CTNS		Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 209491452.	NM_004937.3(CTNS):c.140+10T>C GRCh37: Chr17:3550826 GRCh38: Chr17:3647532	CTNS		Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis	Likely benign (Jul 31, 2022)	criteria provided, single submitter
Select item 209108653.	NM_004937.3(CTNS):c.936_945del (p.Ser312fs) GRCh37: Chr17:3563232-3563241 GRCh38: Chr17:3659938-3659947	CTNS	S312fs, S165fs	Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis	Pathogenic (Jan 29, 2022)	criteria provided, single submitter
Select item 208681754.	NM_004937.3(CTNS):c.649C>T (p.Leu217=) GRCh37: Chr17:3560057 GRCh38: Chr17:3656763	CTNS, CTNS-AS1		Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis	Likely benign (Jan 17, 2022)	criteria provided, single submitter
Select item 208504555.	NM_004937.3(CTNS):c.690C>G (p.Gly230=) GRCh37: Chr17:3561307 GRCh38: Chr17:3658013	CTNS, CTNS-AS1		Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis	Likely benign (Jan 16, 2022)	criteria provided, single submitter
Select item 207718056.	NM_004937.3(CTNS):c.108C>G (p.Asn36Lys) GRCh37: Chr17:3550784 GRCh38: Chr17:3647490	CTNS	N36K	Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 207337857.	NM_004937.3(CTNS):c.948G>A (p.Met316Ile) GRCh37: Chr17:3563247 GRCh38: Chr17:3659953	CTNS	M169I, M316I	Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Uncertain significance (Jun 5, 2022)	criteria provided, single submitter
Select item 207086458.	NM_004937.3(CTNS):c.936C>T (p.Ser312=) GRCh37: Chr17:3563235 GRCh38: Chr17:3659941	CTNS		Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 206959659.	NM_004937.3(CTNS):c.1045T>G (p.Phe349Val) GRCh37: Chr17:3563604 GRCh38: Chr17:3660310	CTNS	F202V, F349V	Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Uncertain significance (Mar 31, 2022)	criteria provided, single submitter
Select item 206847360.	NM_004937.3(CTNS):c.122A>C (p.Asn41Thr) GRCh37: Chr17:3550798 GRCh38: Chr17:3647504	CTNS	N41T	Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 206639961.	NM_004937.3(CTNS):c.61+19C>T GRCh37: Chr17:3543580 GRCh38: Chr17:3640286	CTNS		Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 206408062.	NM_004937.3(CTNS):c.976T>C (p.Trp326Arg) GRCh37: Chr17:3563535 GRCh38: Chr17:3660241	CTNS	W326R, W179R	Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 206399263.	NM_004937.3(CTNS):c.455G>A (p.Arg152Gln) GRCh37: Chr17:3558640 GRCh38: Chr17:3655346	CTNS-AS1, CTNS	R152Q, R5Q	Juvenile nephropathic cystinosis, Ocular cystinosis, Inborn genetic diseases	Uncertain significance (Apr 9, 2022)	criteria provided, single submitter
Select item 206336064.	NM_004937.3(CTNS):c.328G>A (p.Gly110Ser) GRCh37: Chr17:3558394 GRCh38: Chr17:3655100	CTNS, CTNS-AS1	G110S	Juvenile nephropathic cystinosis, Ocular cystinosis, Inborn genetic diseases	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 206161565.	NM_004937.3(CTNS):c.532A>G (p.Ile178Val) GRCh37: Chr17:3559851 GRCh38: Chr17:3656557	CTNS, CTNS-AS1	I31V, I178V	Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis	Uncertain significance (Dec 26, 2021)	criteria provided, single submitter
Select item 206041766.	NM_004937.3(CTNS):c.938T>A (p.Leu313His) GRCh37: Chr17:3563237 GRCh38: Chr17:3659943	CTNS	L166H, L313H	Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 205834867.	NM_004937.3(CTNS):c.853-11G>A GRCh37: Chr17:3563141 GRCh38: Chr17:3659847	CTNS		Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Likely benign (Jan 13, 2022)	criteria provided, single submitter
Select item 205174468.	NM_004937.3(CTNS):c.561+3A>G GRCh37: Chr17:3559883 GRCh38: Chr17:3656589	CTNS, CTNS-AS1		Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis	Uncertain significance (Jul 28, 2022)	criteria provided, single submitter
Select item 204900169.	NM_004937.3(CTNS):c.22A>G (p.Ile8Val) GRCh37: Chr17:3543522 GRCh38: Chr17:3640228	CTNS	I8V	Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 204394970.	NM_004937.3(CTNS):c.188G>T (p.Arg63Leu) GRCh37: Chr17:3552188 GRCh38: Chr17:3648894	CTNS	R63L	Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 203726471.	NM_004937.3(CTNS):c.226-13dup GRCh37: Chr17:3558278-3558279 GRCh38: Chr17:3654984-3654985	CTNS, CTNS-AS1		Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Uncertain significance (Dec 8, 2021)	criteria provided, single submitter
Select item 203214072.	NM_004937.3(CTNS):c.411C>T (p.Ala137=) GRCh37: Chr17:3558596 GRCh38: Chr17:3655302	CTNS, CTNS-AS1		Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 202601273.	NM_004937.3(CTNS):c.852+14C>G GRCh37: Chr17:3561483 GRCh38: Chr17:3658189	CTNS		Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 202418374.	NM_004937.3(CTNS):c.415T>C (p.Ser139Pro) GRCh37: Chr17:3558600 GRCh38: Chr17:3655306	CTNS-AS1, CTNS	S139P	Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Likely pathogenic (Aug 14, 2022)	criteria provided, single submitter
Select item 202118675.	NM_004937.3(CTNS):c.88C>T (p.Pro30Ser) GRCh37: Chr17:3550764 GRCh38: Chr17:3647470	CTNS	P30S	Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Uncertain significance (Aug 2, 2022)	criteria provided, single submitter
Select item 202085376.	NM_004937.3(CTNS):c.141-24_141-18del GRCh37: Chr17:3552115-3552121 GRCh38: Chr17:3648821-3648827	CTNS		Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Likely benign (Aug 1, 2022)	criteria provided, single submitter
Select item 201802977.	NM_004937.3(CTNS):c.225+7A>T GRCh37: Chr17:3552232 GRCh38: Chr17:3648938	CTNS		Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Likely benign (Aug 29, 2022)	criteria provided, single submitter
Select item 201787278.	NC_000017.10:g.3563529_3563536del GRCh37: Chr17:3563529-3563536 GRCh38: Chr17:3660235-3660242	CTNS		Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Pathogenic (Jul 17, 2022)	criteria provided, single submitter
Select item 201756279.	NM_004937.3(CTNS):c.399C>G (p.Ile133Met) GRCh37: Chr17:3558584 GRCh38: Chr17:3655290	CTNS, CTNS-AS1	I133M	Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 201650380.	NM_004937.3(CTNS):c.985A>G (p.Ile329Val) GRCh37: Chr17:3563544 GRCh38: Chr17:3660250	CTNS	I329V, I182V	Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 201629681.	NM_004937.3(CTNS):c.970+10C>T GRCh37: Chr17:3563279 GRCh38: Chr17:3659985	CTNS		Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 201427882.	NM_004937.3(CTNS):c.226-1G>C GRCh37: Chr17:3558291 GRCh38: Chr17:3654997	CTNS, CTNS-AS1		Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis	Likely pathogenic (Jul 5, 2022)	criteria provided, single submitter
Select item 201299283.	NM_004937.3(CTNS):c.911T>C (p.Leu304Pro) GRCh37: Chr17:3563210 GRCh38: Chr17:3659916	CTNS	L157P, L304P	Juvenile nephropathic cystinosis, Inborn genetic diseases, Ocular cystinosis	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 201041184.	NM_004937.3(CTNS):c.555C>T (p.Tyr185=) GRCh37: Chr17:3559874 GRCh38: Chr17:3656580	CTNS, CTNS-AS1		Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Likely benign (Jun 24, 2022)	criteria provided, single submitter
Select item 200965285.	NM_004937.3(CTNS):c.85_86del (p.Pro29fs) GRCh37: Chr17:3550761-3550762 GRCh38: Chr17:3647467-3647468	CTNS	P29fs	Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Pathogenic (Jun 23, 2022)	criteria provided, single submitter
Select item 200512586.	NM_004937.3(CTNS):c.573C>T (p.Leu191=) GRCh37: Chr17:3559981 GRCh38: Chr17:3656687	CTNS, CTNS-AS1		Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Likely benign (Jun 19, 2022)	criteria provided, single submitter
Select item 200284287.	NM_004937.3(CTNS):c.340_348del (p.Arg114_Leu116del) GRCh37: Chr17:3558525-3558533 GRCh38: Chr17:3655231-3655239	CTNS-AS1, CTNS		Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 200198688.	NM_004937.3(CTNS):c.810C>G (p.Ser270=) GRCh37: Chr17:3561427 GRCh38: Chr17:3658133	CTNS		Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Likely benign (Jun 21, 2022)	criteria provided, single submitter
Select item 200070289.	NM_004937.3(CTNS):c.525A>C (p.Val175=) GRCh37: Chr17:3559844 GRCh38: Chr17:3656550	CTNS, CTNS-AS1		Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Likely benign (Jul 14, 2022)	criteria provided, single submitter
Select item 198671290.	NM_004937.3(CTNS):c.681+5G>A GRCh37: Chr17:3560094 GRCh38: Chr17:3656800	CTNS, CTNS-AS1		Juvenile nephropathic cystinosis, Inborn genetic diseases, Ocular cystinosis	Uncertain significance (Apr 20, 2022)	criteria provided, single submitter
Select item 198670491.	NM_004937.3(CTNS):c.783G>T (p.Thr261=) GRCh37: Chr17:3561400 GRCh38: Chr17:3658106	CTNS		Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis	Likely benign (Aug 3, 2022)	criteria provided, single submitter
Select item 198622792.	NM_004937.3(CTNS):c.592G>T (p.Val198Leu) GRCh37: Chr17:3560000 GRCh38: Chr17:3656706	CTNS, CTNS-AS1	V198L, V51L	Juvenile nephropathic cystinosis, Inborn genetic diseases, Ocular cystinosis	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 198615693.	NM_004937.3(CTNS):c.777G>A (p.Val259=) GRCh37: Chr17:3561394 GRCh38: Chr17:3658100	CTNS		Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis	Likely benign (Dec 20, 2021)	criteria provided, single submitter
Select item 198449694.	NM_004937.3(CTNS):c.1007T>A (p.Phe336Tyr) GRCh37: Chr17:3563566 GRCh38: Chr17:3660272	CTNS	F189Y, F336Y	Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 198353495.	NM_004937.3(CTNS):c.829A>G (p.Thr277Ala) GRCh37: Chr17:3561446 GRCh38: Chr17:3658152	CTNS	T130A, T277A	Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 198249596.	NM_004937.3(CTNS):c.976T>A (p.Trp326Arg) GRCh37: Chr17:3563535 GRCh38: Chr17:3660241	CTNS	W326R, W179R	Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Uncertain significance (Jun 3, 2022)	criteria provided, single submitter
Select item 198133297.	NM_004937.3(CTNS):c.460A>C (p.Ser154Arg) GRCh37: Chr17:3558645 GRCh38: Chr17:3655351	CTNS, CTNS-AS1	S7R, S154R	Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 198029398.	NM_004937.3(CTNS):c.461+20G>A GRCh37: Chr17:3558666 GRCh38: Chr17:3655372	CTNS, CTNS-AS1		Ocular cystinosis, Juvenile nephropathic cystinosis, Inborn genetic diseases	Likely benign (Feb 12, 2022)	criteria provided, single submitter
Select item 197115699.	NM_004937.3(CTNS):c.162G>C (p.Leu54=) GRCh37: Chr17:3552162 GRCh38: Chr17:3648868	CTNS		Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis	Likely benign (May 7, 2022)	criteria provided, single submitter
Select item 1970398100.	NM_004937.3(CTNS):c.858C>T (p.Tyr286=) GRCh37: Chr17:3563157 GRCh38: Chr17:3659863	CTNS		Inborn genetic diseases, Ocular cystinosis, Juvenile nephropathic cystinosis	Likely benign (Dec 18, 2021)	criteria provided, single submitter

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