MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:2941
Name:Cystinosis
Definition:A metabolic disease characterized by the defective transport of CYSTINE across the lysosomal membrane due to mutation of a membrane protein cystinosin. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. In the KIDNEY, nephropathic cystinosis is a common cause of RENAL FANCONI SYNDROME.
Alternative IDs:OMIM:219800
ParentIDs:MESH:D016464
TreeNumbers:C16.320.565.595.377 |C18.452.648.595.377
Synonyms:CTNS |Cystine Diatheses |Cystine Diathesis |Cystine Disease |Cystine Diseases |Cystine Storage Disease |Cystine Storage Diseases |Cystinoses |Cystinoses, Nephropathic |Cystinosin, Defect of |CYSTINOSIN, DEFECT OF CYSTINOSIS, INFANTILE NEPHROPATHIC, INCLUDED |CYSTIN
Slim Mappings:Genetic disease (inborn)|Metabolic disease
Reference: MedGen: D003554
MeSH: D003554
OMIM: 219800;
MSeqDR LSDB:  
Genes: CTNS;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001608Abnormality of the voice
3 HP:0002059Cerebral atrophy
4 HP:0000531Corneal crystals
5 HP:0003234Decreased plasma carnitine
6 HP:0001944Dehydration
7 HP:0000823Delayed puberty
NAMDC:  Prolonged pubertal growth spurt
8 HP:0002750Delayed skeletal maturation
9 HP:0000819Diabetes mellitus
NAMDC:  Diabetes mellitus
10 HP:0002015Dysphagia
NAMDC:  Dysphagia
11 HP:0003358Elevated intracellular cystine
12 HP:0004911Episodic metabolic acidosis
13 HP:0001738Exocrine pancreatic insufficiency
NAMDC:  Exocrine pancreatic dysfunction
14 HP:0001531Failure to thrive in infancy
15 HP:0002007Frontal bossing
16 HP:0002909Generalized aminoaciduria
17 HP:0002857Genu valgum
18 HP:0003076Glycosuria
19 HP:0002240Hepatomegaly
20 HP:0000966Hypohidrosis
21 HP:0002902Hyponatremia
22 HP:0004912Hypophosphatemic rickets
23 HP:0005599Hypopigmentation of hair
24 HP:0001010Hypopigmentation of the skin
25 HP:0003251Male infertility
26 HP:0003016Metaphyseal widening
27 HP:0002907Microscopic hematuria
28 HP:0003198Myopathy
NAMDC:  Myopathy
29 HP:0000787Nephrolithiasis
30 HP:0000613Photophobia
31 HP:0000580Pigmentary retinopathy
NAMDC:  Pigmentary retinopathy
32 HP:0001959Polydipsia
33 HP:0000103Polyuria
34 HP:0000832Primary hypothyroidism
35 HP:0002344Progressive neurologic deterioration
36 HP:0000093Proteinuria
37 HP:0000897Rachitic rosary
38 HP:0000495Recurrent corneal erosions
39 HP:0007663Reduced visual acuity
40 HP:0001994Renal Fanconi syndrome
41 HP:0000083Renal insufficiency
42 HP:0007814Retinal pigment epithelial mottling
43 HP:0004322Short stature
NAMDC:  Short stature (patient¡¯s height is below the 3rd percentile)
44 HP:0003202Skeletal muscle atrophy
45 HP:0001744Splenomegaly
46 HP:0000505Visual impairment
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000017.11:g.3600934_3658165del572321497CTNSPathogenic-1RCV000004698; RCV000004697; RCV000004696; NMedGen:C2931013,OMIM:219750, Orphanet:ORPHA411641; MedGen:C0268626,OMIM:219900, Orphanet:ORPHA411634,SNOMED CT:22830006; MedGen:C0010690,OMIM:2198001735042283561459OMIM Allelic Variant:606272.0005,dbVar:nssv3761567,dbVar:nsv1067862C2931013 219750 Cystinosis, ocular nonnephropathic;
NC_000017.11:g.(?_3636418)_(3658195_?)del1497CTNSPathogenic-1RCV000543021; RCV000543021; RCV000543021; NMedGen:C2931013,OMIM:219750, Orphanet:ORPHA411641; MedGen:C0268626,OMIM:219900, Orphanet:ORPHA411634,SNOMED CT:22830006; MedGen:C0010690,OMIM:2198001735397123561489-C2931013 219750 Cystinosis, ocular nonnephropathic;
NC_000017.11:g.(?_3636418)_(3656815_?)del1497CTNSPathogenic-1RCV000630479; RCV000630479; RCV000630479; NMedGen:C2931013,OMIM:219750, Orphanet:ORPHA411641; MedGen:C0268626,OMIM:219900, Orphanet:ORPHA411634,SNOMED CT:22830006; MedGen:C0010690,OMIM:2198001735397123560109-C2931013 219750 Cystinosis, ocular nonnephropathic;
NM_004937.2(CTNS):c.-520T>C1497CTNSLikely benign111977802RCV000262711; RCV000387470; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735398353539835-CN035091 Cystinosis;
NM_004937.2(CTNS):c.-497C>T1497CTNSUncertain significance530371788RCV000320236; RCV000372303; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735398583539858-CN035091 Cystinosis;
NM_004937.2(CTNS):c.-476G>A1497CTNSUncertain significance373260107RCV000323634; RCV000280312; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735398793539879-CN035091 Cystinosis;
NM_004937.2(CTNS):c.-458C>T1497CTNSLikely benign11657606RCV000282818; RCV000380545; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735398973539897-CN035091 Cystinosis;
NM_004937.2(CTNS):c.-429T>C1497CTNSUncertain significance886052860RCV000340201; RCV000391183; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735399263539926-CN035091 Cystinosis;
NM_004937.2(CTNS):c.-364G>T1497CTNSUncertain significance886052861RCV000343764; RCV000291018; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735399913539991-CN035091 Cystinosis;
NM_004937.2(CTNS):c.-362C>T1497CTNSUncertain significance886052862RCV000391167; RCV000313451; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735399933539993-CN035091 Cystinosis;
NM_004937.2(CTNS):c.-313G>A1497CTNSLikely benign17707869RCV000401897; RCV000370497; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735400423540042-CN035091 Cystinosis;
NM_004937.2(CTNS):c.-272A>C1497CTNSUncertain significance534368692RCV000355937; RCV000312890; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735400833540083-CN035091 Cystinosis;
NM_004937.2(CTNS):c.-258G>A1497CTNSUncertain significance559229383RCV000316288; RCV000263514; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735400973540097-CN035091 Cystinosis;
NM_004937.2(CTNS):c.-230+11A>G1497CTNSLikely benign116000219RCV000354758; RCV000267022; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735401363540136-CN035091 Cystinosis;
NM_004937.2(CTNS):c.-213T>C1497CTNSUncertain significance537567463RCV000377697; RCV000324444; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735404173540417-CN035091 Cystinosis;
NM_004937.2(CTNS):c.-136C>A1497CTNSUncertain significance886052863RCV000290268; RCV000328899; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735404943540494-CN035091 Cystinosis;
NM_004937.2(CTNS):c.-74A>T1497CTNSUncertain significance886052864RCV000289166; RCV000381246; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735405563540556-CN035091 Cystinosis;
NM_004937.2(CTNS):c.-47A>C1497CTNSUncertain significance886052865RCV000391689; RCV000351085; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735405833540583-CN035091 Cystinosis;
NM_004937.2(CTNS):c.-24C>T1497CTNSUncertain significance886052866RCV000349476; RCV000292609; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735406063540606-CN035091 Cystinosis;
NM_004937.2(CTNS):c.-21_-20delAG1497CTNSUncertain significance550436044RCV000300496; RCV000391692; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735406093540610-CN035091 Cystinosis;
NM_004937.2(CTNS):c.-20+13T>C1497CTNSUncertain significance780032861RCV000405649; RCV000352972; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735406233540623-CN035091 Cystinosis;
NM_004937.2(CTNS):c.-19-1G>A1497CTNSLikely pathogenic1555558034RCV000667805; NMedGen:C0010690,OMIM:2198001735434813543481-C0010690 219800 Nephropathic cystinosis;
NM_004937.2(CTNS):c.-8C>T1497CTNSUncertain significance372701935RCV000668541; NMedGen:C0010690,OMIM:2198001735434933543493-C0010690 219800 Nephropathic cystinosis;
NM_004937.2(CTNS):c.20delC (p.Thr7Ilefs)1497CTNSLikely pathogenic1555558078RCV000664511; NMedGen:C0010690,OMIM:2198001735435193543520-C0010690 219800 Nephropathic cystinosis;
NM_004937.2(CTNS):c.40delC (p.Leu14Terfs)1497CTNSLikely pathogenic1555558099RCV000672996; NMedGen:C0010690,OMIM:2198001735435363543537-C0010690 219800 Nephropathic cystinosis;
NM_001031681.2(CTNS):c.60_61del (p.Cys20Terfs)1497CTNSPathogenic-1RCV000004692; NMedGen:C0010690,OMIM:2198001735435603543561OMIM Allelic Variant:606272.0002
NM_004937.2(CTNS):c.61+1G>A1497CTNSLikely pathogenic1555558116RCV000674116; NMedGen:C0010690,OMIM:2198001735435623543562-C0010690 219800 Nephropathic cystinosis;
NM_004937.2(CTNS):c.62-2A>G1497CTNSLikely pathogenic1555560637RCV000672882; NMedGen:C0010690,OMIM:2198001735507363550736-C0010690 219800 Nephropathic cystinosis;
NC_000017.11:g.(?_3647444)_(3658175_?)del1497CTNSPathogenic-1RCV000708348; RCV000708348; RCV000708348; NMedGen:C2931013,OMIM:219750, Orphanet:ORPHA411641; MedGen:C0268626,OMIM:219900, Orphanet:ORPHA411634,SNOMED CT:22830006; MedGen:C0010690,OMIM:2198001735507383561469-C2931013 219750 Cystinosis, ocular nonnephropathic;
NM_004937.2(CTNS):c.73A>T (p.Ser25Cys)1497CTNSUncertain significance777367316RCV000670911; NMedGen:C0010690,OMIM:2198001735507493550749-C0010690 219800 Nephropathic cystinosis;
NM_004937.2(CTNS):c.82G>C (p.Val28Leu)1497CTNSUncertain significance759921102RCV000304089; RCV000361156; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735507583550758-CN035091 Cystinosis;
NM_004937.2(CTNS):c.94G>A (p.Val32Ile)1497CTNSUncertain significance146684402RCV000322260; RCV000264244; RCV000757141; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:219800; MedGen:CN5172021735507703550770-CN035091 Cystinosis;
NM_004937.2(CTNS):c.108C>T (p.Asn36=)1497CTNSConflicting interpretations of pathogenicity117404824RCV000272909; RCV000630477; RCV000630477; RCV000365231; RCV000630477; RCV000675692; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C2931013,OMIM:219750, Orphanet:ORPHA411641; MedGen:C0268626,OMIM:219900, Orphanet:ORPHA411634,SNOMED CT:22830006; MedGen:C0010690,OMIM:219800; MedGen:C0010690,OMIM:219800; MedGen:CN5172021735507843550784-CN035091 Cystinosis;
NM_004937.2(CTNS):c.116C>T (p.Ser39Leu)1497CTNSUncertain significance144751390RCV000382522; RCV000325694; RCV000507644; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:219800; MedGen:CN1693741735507923550792-CN035091 Cystinosis;
NM_004937.2(CTNS):c.124G>A (p.Val42Ile)1497CTNSConflicting interpretations of pathogenicity35086888RCV000333816; RCV000004700; RCV000630476; RCV000630476; RCV000276289; RCV000630476; RCV000440461; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C2749685; MedGen:C2931013,OMIM:219750, Orphanet:ORPHA411641; MedGen:C0268626,OMIM:219900, Orphanet:ORPHA411634,SNOMED CT:22830006; MedGen:C0010690,OMIM:219800; MedGen:C0010690,OMIM:219800; MedGen:CN51735508003550800OMIM Allelic Variant:606272.0007,UniProtKB (protein):O60931#VAR_010285CN035091 Cystinosis;
NM_004937.2(CTNS):c.141-4A>C1497CTNSLikely benign1437667230RCV000630478; RCV000630478; RCV000630478; NMedGen:C2931013,OMIM:219750, Orphanet:ORPHA411641; MedGen:C0268626,OMIM:219900, Orphanet:ORPHA411634,SNOMED CT:22830006; MedGen:C0010690,OMIM:2198001735521373552137-C2931013 219750 Cystinosis, ocular nonnephropathic;
NM_001031681.2(CTNS):c.198_218del21 (p.Ile67_Pro73del)1497CTNSPathogenic/Likely pathogenic113994204RCV000780201; RCV000020623; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735521983552218-C0010690 219800 Nephropathic cystinosis;
NM_001031681.2(CTNS):c.199_219del21 (p.Ile67_Pro73del)1497CTNSLikely pathogenic786204550RCV000169266; NMedGen:C0010690,OMIM:2198001735521993552219-C0010690 219800 Nephropathic cystinosis;
NM_004937.2(CTNS):c.206_210delTCCTT (p.Ile69Argfs)1497CTNSPathogenic879758262RCV000553108; RCV000553108; RCV000004703; RCV000553108; NMedGen:C2931013,OMIM:219750, Orphanet:ORPHA411641; MedGen:C0268626,OMIM:219900, Orphanet:ORPHA411634,SNOMED CT:22830006; MedGen:C0010690,OMIM:219800; MedGen:C0010690,OMIM:2198001735522063552210OMIM Allelic Variant:606272.0010C2931013 219750 Cystinosis, ocular nonnephropathic;
NM_004937.2(CTNS):c.225+5_225+8delGTAA1497CTNSUncertain significance1555561048RCV000665684; NMedGen:C0010690,OMIM:2198001735522233552227-C0010690 219800 Nephropathic cystinosis;
NM_004937.2(CTNS):c.225+1G>A1497CTNSLikely pathogenic1555561049RCV000673312; NMedGen:C0010690,OMIM:2198001735522263552226-C0010690 219800 Nephropathic cystinosis;
NM_001031681.2(CTNS):c.225+5_225+7dup1497CTNSLikely benign1555561050RCV000667809; NMedGen:C0010690,OMIM:2198001735522283552228-C0010690 219800 Nephropathic cystinosis;
NM_004937.2(CTNS):c.225+5_225+6delGTinsCC1497CTNSLikely pathogenic786204541RCV000169252; NMedGen:C0010690,OMIM:2198001735522303552231-C0010690 219800 Nephropathic cystinosis;
NM_004937.2(CTNS):c.251delA (p.Asn84Thrfs)1497CTNSLikely pathogenic1057516296RCV000409604; NMedGen:C0010690,OMIM:2198001735583173558317-C0010690 219800 Nephropathic cystinosis;
NM_001031681.2(CTNS):c.283G>T (p.Gly95Ter)1497CTNSPathogenic121908124RCV000004691; NMedGen:C0010690,OMIM:2198001735583493558349OMIM Allelic Variant:606272.0001C0010690 219800 Nephropathic cystinosis;
NM_004937.2(CTNS):c.292dupA (p.Thr98Asnfs)1497CTNSLikely pathogenic786204434RCV000169050; NMedGen:C0010690,OMIM:2198001735583583558358-C0010690 219800 Nephropathic cystinosis;
NM_004937.2(CTNS):c.320_323delATCA (p.Asn107Argfs)1497CTNSLikely pathogenic1555562830RCV000670480; NMedGen:C0010690,OMIM:2198001735583833558387-C0010690 219800 Nephropathic cystinosis;
NM_004937.2(CTNS):c.323delA (p.Gln108Argfs)1497CTNSLikely pathogenic879255615RCV000239704; RCV000672038; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735583893558389-CN035091 Cystinosis;
NM_004937.2(CTNS):c.329+2T>C1497CTNSConflicting interpretations of pathogenicity955833453RCV000779215; RCV000410250; NMedGen:C2931013,OMIM:219750, Orphanet:ORPHA411641; MedGen:C0010690,OMIM:2198001735583973558397-C0010690 219800 Nephropathic cystinosis;
NM_004937.2(CTNS):c.332C>T (p.Pro111Leu)1497CTNSUncertain significance149689304RCV000385943; RCV000294341; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735585173558517-CN035091 Cystinosis;
NM_004937.2(CTNS):c.356G>A (p.Arg119His)1497CTNSConflicting interpretations of pathogenicity375970075RCV000337680; RCV000375955; RCV000179898; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:219800; MedGen:CN1693741735585413558541-CN035091 Cystinosis;
NM_004937.2(CTNS):c.363C>T (p.Ser121=)1497CTNSUncertain significance746463725RCV000278919; RCV000336575; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735585483558548-CN035091 Cystinosis;
NM_004937.2(CTNS):c.407T>G (p.Val136Gly)1497CTNSUncertain significance764372178RCV000306111; RCV000391973; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735585923558592-CN035091 Cystinosis;
NM_004937.2(CTNS):c.414G>A (p.Trp138Ter)1497CTNSPathogenic113994205RCV000630473; RCV000630473; RCV000004693; RCV000630473; RCV000723832; NMedGen:C2931013,OMIM:219750, Orphanet:ORPHA411641; MedGen:C0268626,OMIM:219900, Orphanet:ORPHA411634,SNOMED CT:22830006; MedGen:C0010690,OMIM:219800; MedGen:C0010690,OMIM:219800; MedGen:CN5172021735585993558599OMIM Allelic Variant:606272.0003C2931013 219750 Cystinosis, ocular nonnephropathic;
NM_004937.2(CTNS):c.416C>T (p.Ser139Phe)1497CTNSLikely pathogenic267606754RCV000258030; RCV000004712; RCV000004711; RCV000169140; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C2749685; MedGen:C0268626,OMIM:219900, Orphanet:ORPHA411634,SNOMED CT:22830006; MedGen:C0010690,OMIM:2198001735586013558601OMIM Allelic Variant:606272.0018,UniProtKB (protein):O60931#VAR_010678CN035091 Cystinosis;
NM_004937.2(CTNS):c.425_427delTCT (p.Phe142del)1497CTNSUncertain significance1178364162RCV000667017; NMedGen:C0010690,OMIM:2198001735586073558610-C0010690 219800 Nephropathic cystinosis;
NM_004937.2(CTNS):c.444G>A (p.Met148Ile)1497CTNSUncertain significance199977728RCV000339986; RCV000403908; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735586293558629-CN035091 Cystinosis;
NM_004937.2(CTNS):c.451A>G (p.Arg151Gly)1497CTNSLikely pathogenic1555563010RCV000672610; NMedGen:C0010690,OMIM:2198001735586363558636-C0010690 219800 Nephropathic cystinosis;
NM_004937.2(CTNS):c.461+8C>T1497CTNSLikely benign368822078RCV000664982; NMedGen:C0010690,OMIM:2198001735586543558654-C0010690 219800 Nephropathic cystinosis;
NM_004937.2(CTNS):c.462-27_462-3del251497CTNSUncertain significance1555563374RCV000613111; NMedGen:C0010690,OMIM:2198001735597543559778-C0010690 219800 Nephropathic cystinosis;
NM_004937.2(CTNS):c.462-7C>A1497CTNSConflicting interpretations of pathogenicity189632527RCV000309746; RCV000362228; RCV000675694; RCV000313950; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:219800; MedGen:CN517202; MedGen:CN1693741735597743559774-CN035091 Cystinosis;
NM_001031681.2(CTNS):c.462T>C (p.Ser154=)1497CTNSBenign/Likely benign77453839RCV000269959; RCV000313385; RCV000586769; RCV000243105; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:219800; MedGen:CN517202; MedGen:CN1693741735597813559781-CN035091 Cystinosis;
NM_004937.2(CTNS):c.473T>C (p.Leu158Pro)1497CTNSPathogenic113994206RCV000020624; NMedGen:C0010690,OMIM:2198001735597923559792UniProtKB (protein):O60931#VAR_010680C0010690 219800 Nephropathic cystinosis;
NM_001031681.2(CTNS):c.504G>A (p.Thr168=)1497CTNSBenign/Likely benign1800528RCV000370416; RCV000277810; RCV000675695; RCV000246446; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:219800; MedGen:CN517202; MedGen:CN1693741735598233559823-CN035091 Cystinosis;
NM_001031681.2(CTNS):c.506G>A (p.Gly169Asp)1497CTNSPathogenic121908126RCV000004699; NMedGen:C0010690,OMIM:2198001735598253559825OMIM Allelic Variant:606272.0006,UniProtKB (protein):O60931#VAR_010286C0010690 219800 Nephropathic cystinosis;
NM_004937.2(CTNS):c.518A>G (p.Tyr173Cys)1497CTNSUncertain significance1555563446RCV000674853; NMedGen:C0010690,OMIM:2198001735598373559837-C0010690 219800 Nephropathic cystinosis;
NM_004937.2(CTNS):c.519_520delCA (p.Tyr173Terfs)1497CTNSPathogenic745365232RCV000409104; NMedGen:C0010690,OMIM:2198001735598383559839-C0010690 219800 Nephropathic cystinosis;
NM_004937.2(CTNS):c.559_561+24del271497CTNSPathogenic/Likely pathogenic113994211RCV000689292; RCV000689292; RCV000020627; RCV000689292; NMedGen:C2931013,OMIM:219750, Orphanet:ORPHA411641; MedGen:C0268626,OMIM:219900, Orphanet:ORPHA411634,SNOMED CT:22830006; MedGen:C0010690,OMIM:219800; MedGen:C0010690,OMIM:2198001735598783559904-C2931013 219750 Cystinosis, ocular nonnephropathic;
NM_004937.2(CTNS):c.561+1delG1497CTNSLikely pathogenic786204667RCV000169470; NMedGen:C0010690,OMIM:2198001735598813559881-C0010690 219800 Nephropathic cystinosis;
NM_001031681.2(CTNS):c.561+4C>T1497CTNSConflicting interpretations of pathogenicity111256750RCV000332820; RCV000373428; RCV000726278; RCV000243413; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:219800; MedGen:CN517202; MedGen:CN1693741735598843559884-CN035091 Cystinosis;
NM_004937.2(CTNS):c.562-2_562-1delAG1497CTNSLikely pathogenic1555563521RCV000664510; NMedGen:C0010690,OMIM:2198001735599673559969-C0010690 219800 Nephropathic cystinosis;
NM_004937.2(CTNS):c.589G>A (p.Gly197Arg)1497CTNSLikely pathogenic113994207RCV000004704; RCV000763395; RCV000763395; RCV000169004; RCV000763395; RCV000514820; NMedGen:C2931013,OMIM:219750, Orphanet:ORPHA411641; MedGen:C2931013,OMIM:219750, Orphanet:ORPHA411641; MedGen:C0268626,OMIM:219900, Orphanet:ORPHA411634,SNOMED CT:22830006; MedGen:C0010690,OMIM:219800; MedGen:C0010690,OMIM:219800; MedGen:CN5172021735599973559997OMIM Allelic Variant:606272.0011,UniProtKB (protein):O60931#VAR_010682C2931013 219750 Cystinosis, ocular nonnephropathic;
NM_004937.2(CTNS):c.592delG (p.Val198Terfs)1497CTNSLikely pathogenic1555563568RCV000666948; NMedGen:C0010690,OMIM:2198001735599993560000-C0010690 219800 Nephropathic cystinosis;
NM_004937.2(CTNS):c.613G>A (p.Asp205Asn)1497CTNSPathogenic113994208RCV000590697; RCV000020625; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735600213560021UniProtKB (protein):O60931#VAR_010683CN035091 Cystinosis;
NM_004937.2(CTNS):c.614_616delACG (p.Asp205del)1497CTNSLikely pathogenic760256854RCV000258027; RCV000169014; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735600223560024-CN035091 Cystinosis;
NM_004937.2(CTNS):c.622_624delTTC (p.Phe208del)1497CTNSUncertain significance1555563619RCV000673519; NMedGen:C0010690,OMIM:2198001735600243560027-C0010690 219800 Nephropathic cystinosis;
NM_004937.2(CTNS):c.646dupA (p.Thr216Asnfs)1497CTNSPathogenic893207601RCV000703763; RCV000703763; RCV000411977; RCV000703763; NMedGen:C2931013,OMIM:219750, Orphanet:ORPHA411641; MedGen:C0268626,OMIM:219900, Orphanet:ORPHA411634,SNOMED CT:22830006; MedGen:C0010690,OMIM:219800; MedGen:C0010690,OMIM:2198001735600543560054-C2931013 219750 Cystinosis, ocular nonnephropathic;
NM_004937.2(CTNS):c.681+1delG1497CTNSLikely pathogenic1555563658RCV000674879; NMedGen:C0010690,OMIM:2198001735600883560089-C0010690 219800 Nephropathic cystinosis;
NM_004937.2(CTNS):c.681G>A (p.Glu227=)1497CTNSPathogenic778414542RCV000668750; NMedGen:C0010690,OMIM:2198001735600893560089-C0010690 219800 Nephropathic cystinosis;
NM_004937.2(CTNS):c.681+2T>C1497CTNSLikely pathogenic1057516723RCV000410327; NMedGen:C0010690,OMIM:2198001735600913560091-C0010690 219800 Nephropathic cystinosis;
NM_004937.2(CTNS):c.682-1G>A1497CTNSLikely pathogenic1057516771RCV000410717; NMedGen:C0010690,OMIM:2198001735612983561298-C0010690 219800 Nephropathic cystinosis;
NM_001031681.2(CTNS):c.684_686dup (p.Gly230_Gln231insGly)1497CTNSUncertain significance1555563962RCV000666725; NMedGen:C0010690,OMIM:2198001735612993561299-C0010690 219800 Nephropathic cystinosis;
NM_001031681.2(CTNS):c.696_697dup (p.Val233Alafs)1497CTNSLikely pathogenic1555563982RCV000666815; NMedGen:C0010690,OMIM:2198001735613093561309-C0010690 219800 Nephropathic cystinosis;
NM_004937.2(CTNS):c.694C>T (p.Arg232Cys)1497CTNSUncertain significance138823792RCV000319800; RCV000260063; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735613113561311-CN035091 Cystinosis;
NM_004937.2(CTNS):c.695G>A (p.Arg232His)1497CTNSUncertain significance142641674RCV000284539; RCV000374508; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735613123561312-CN035091 Cystinosis;
NM_004937.2(CTNS):c.696dupC (p.Val233Argfs)1497CTNSPathogenic113994209RCV000020626; NMedGen:C0010690,OMIM:2198001735613133561313-C0010690 219800 Nephropathic cystinosis;
NM_004937.2(CTNS):c.734G>A (p.Trp245Ter)1497CTNSLikely pathogenic763089013RCV000411177; NMedGen:C0010690,OMIM:2198001735613513561351-C0010690 219800 Nephropathic cystinosis;
NM_001031681.2(CTNS):c.751_754delACCAinsCG (p.Thr251Argfs)1497CTNSPathogenic1555564051RCV000630475; RCV000630475; RCV000630475; NMedGen:C2931013,OMIM:219750, Orphanet:ORPHA411641; MedGen:C0268626,OMIM:219900, Orphanet:ORPHA411634,SNOMED CT:22830006; MedGen:C0010690,OMIM:2198001735613683561371-C2931013 219750 Cystinosis, ocular nonnephropathic;
NM_001031681.2(CTNS):c.768dup (p.Val257Serfs)1497CTNSLikely pathogenic-1RCV000735813; NMedGen:C0010690,OMIM:2198001735613853561385-
NM_001031681.2(CTNS):c.779C>T (p.Thr260Ile)1497CTNSBenign161400RCV000380229; RCV000339531; RCV000675697; RCV000248355; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:219800; MedGen:CN517202; MedGen:CN1693741735613963561396UniProtKB (protein):O60931#VAR_060371CN035091 Cystinosis;
NM_004937.2(CTNS):c.809_811delCCT (p.Ser270del)1497CTNSLikely pathogenic786204632RCV000169407; NMedGen:C0010690,OMIM:2198001735614263561428-C0010690 219800 Nephropathic cystinosis;
NM_001031681.2(CTNS):c.829dup (p.Thr277Asnfs)1497CTNSPathogenic752919200RCV000666310; NMedGen:C0010690,OMIM:2198001735614453561445-C0010690 219800 Nephropathic cystinosis;
NM_004937.2(CTNS):c.853-15G>A1497CTNSUncertain significance376050426RCV000285827; RCV000345187; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735631373563137-CN035091 Cystinosis;
NM_004937.2(CTNS):c.853-2A>G1497CTNSPathogenic/Likely pathogenic1475322504RCV000588528; RCV000666666; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735631503563150-CN035091 Cystinosis;
NM_004937.2(CTNS):c.853-1G>A1497CTNSLikely pathogenic1555564588RCV000673974; NMedGen:C0010690,OMIM:2198001735631513563151-C0010690 219800 Nephropathic cystinosis;
NM_001031681.2(CTNS):c.869dup (p.Tyr290Terfs)1497CTNSLikely pathogenic1555564600RCV000672051; NMedGen:C0010690,OMIM:2198001735631673563167-C0010690 219800 Nephropathic cystinosis;
NM_004937.2(CTNS):c.890G>A (p.Trp297Ter)1497CTNSPathogenic917630768RCV000666309; NMedGen:C0010690,OMIM:2198001735631893563189-C0010690 219800 Nephropathic cystinosis;
NM_004937.2(CTNS):c.914A>G (p.Asp305Gly)1497CTNSUncertain significance1263951539RCV000664507; NMedGen:C0010690,OMIM:2198001735632133563213-C0010690 219800 Nephropathic cystinosis;
NM_004937.2(CTNS):c.922G>A (p.Gly308Arg)1497CTNSPathogenic746307931RCV000258031; RCV000691400; RCV000691400; RCV000691400; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C2931013,OMIM:219750, Orphanet:ORPHA411641; MedGen:C0268626,OMIM:219900, Orphanet:ORPHA411634,SNOMED CT:22830006; MedGen:C0010690,OMIM:2198001735632213563221UniProtKB (protein):O60931#VAR_010692CN035091 Cystinosis;
NM_004937.2(CTNS):c.926dupG (p.Ser310Glnfs)1497CTNSPathogenic/Likely pathogenic786204420RCV000780203; RCV000169007; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735632253563225-C0010690 219800 Nephropathic cystinosis;
NM_004937.2(CTNS):c.944A>G (p.Gln315Arg)1497CTNSConflicting interpretations of pathogenicity1064795587RCV000675105; RCV000479734; NMedGen:C0010690,OMIM:219800; MedGen:CN5172021735632433563243-C0010690 219800 Nephropathic cystinosis;
NM_004937.2(CTNS):c.970G>A (p.Asp324Asn)1497CTNSUncertain significance140326392RCV000392314; RCV000693664; RCV000693664; RCV000310091; RCV000693664; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C2931013,OMIM:219750, Orphanet:ORPHA411641; MedGen:C0268626,OMIM:219900, Orphanet:ORPHA411634,SNOMED CT:22830006; MedGen:C0010690,OMIM:219800; MedGen:C0010690,OMIM:2198001735632693563269-CN035091 Cystinosis;
NM_001031681.2(CTNS):c.970+15G>A1497CTNSBenign/Likely benign76153698RCV000346193; RCV000392247; RCV000590580; RCV000251725; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:219800; MedGen:CN517202; MedGen:CN1693741735632843563284-CN035091 Cystinosis;
NM_004937.2(CTNS):c.971-12G>A1497CTNSPathogenic/Likely pathogenic375952052RCV000630474; RCV000630474; RCV000630474; RCV000664494; NMedGen:C2931013,OMIM:219750, Orphanet:ORPHA411641; MedGen:C0268626,OMIM:219900, Orphanet:ORPHA411634,SNOMED CT:22830006; MedGen:C0010690,OMIM:219800; MedGen:C0010690,OMIM:2198001735635183563518-C2931013 219750 Cystinosis, ocular nonnephropathic;
NM_001031681.2(CTNS):c.971-1dup1497CTNSLikely pathogenic1555564823RCV000673539; NMedGen:C0010690,OMIM:2198001735635283563528-C0010690 219800 Nephropathic cystinosis;
NM_004937.2(CTNS):c.1008T>G (p.Phe336Leu)1497CTNSUncertain significance762561354RCV000370675; RCV000311462; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735635673563567-CN035091 Cystinosis;
NM_004937.2(CTNS):c.1015G>A (p.Gly339Arg)1497CTNSPathogenic121908127RCV000004708; NMedGen:C0010690,OMIM:2198001735635743563574OMIM Allelic Variant:606272.0015,UniProtKB (protein):O60931#VAR_010695C0010690 219800 Nephropathic cystinosis;
NM_004937.2(CTNS):c.1024_1035del12 (p.Ser342_Phe345del)1497CTNSUncertain significance745806090RCV000670320; NMedGen:C0010690,OMIM:2198001735635763563588-C0010690 219800 Nephropathic cystinosis;
NM_004937.2(CTNS):c.1042_1044delGTC (p.Val348del)1497CTNSUncertain significance1555564879RCV000665066; NMedGen:C0010690,OMIM:2198001735635963563599-C0010690 219800 Nephropathic cystinosis;
NM_004937.2(CTNS):c.1075_1076delAA (p.Lys359Glufs)1497CTNSUncertain significance779451531RCV000670323; NMedGen:C0010690,OMIM:2198001735636323563634-C0010690 219800 Nephropathic cystinosis;
NM_004937.2(CTNS):c.1082C>T (p.Pro361Leu)1497CTNSUncertain significance-1RCV000696407; RCV000696407; RCV000696407; NMedGen:C2931013,OMIM:219750, Orphanet:ORPHA411641; MedGen:C0268626,OMIM:219900, Orphanet:ORPHA411634,SNOMED CT:22830006; MedGen:C0010690,OMIM:2198001735636413563641-C2931013 219750 Cystinosis, ocular nonnephropathic;
NM_004937.2(CTNS):c.1083G>A (p.Pro361=)1497CTNSUncertain significance371189196RCV000298054; RCV000276209; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735636423563642-CN035091 Cystinosis;
NM_004937.2(CTNS):c.1102T>C (p.Ter368Gln)1497CTNSLikely pathogenic1057517330RCV000411915; NMedGen:C0010690,OMIM:2198001735636613563661-C0010690 219800 Nephropathic cystinosis;
NM_004937.2(CTNS):c.*16T>C1497CTNSUncertain significance201198798RCV000262844; RCV000352900; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735636793563679-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*55C>G1497CTNSUncertain significance751680506RCV000318065; RCV000358845; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735637183563718-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*129C>T1497CTNSUncertain significance746209035RCV000324128; RCV000264311; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735637923563792-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*262G>A1497CTNSUncertain significance201647994RCV000378656; RCV000288250; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735639253563925-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*280G>A1497CTNSUncertain significance200771636RCV000383730; RCV000329239; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735639433563943-CN035091 Cystinosis;
NM_001031681.2(CTNS):c.1138C>G (p.Pro380Ala)1497CTNSBenign2873624RCV000294120; RCV000348863; RCV000675699; RCV000252728; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:219800; MedGen:CN517202; MedGen:CN1693741735639633563963-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*405G>A1497CTNSLikely benign760273RCV000399422; RCV000295137; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735640683564068-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*410A>G1497CTNSLikely benign3826496RCV000394000; RCV000336136; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735640733564073-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*421T>C1497CTNSLikely benign760274RCV000356111; RCV000301323; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735640843564084-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*431C>T1497CTNSUncertain significance886052868RCV000302650; RCV000406356; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735640943564094-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*527G>A1497CTNSLikely benign79668190RCV000267440; RCV000362078; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735641903564190-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*555T>C1497CTNSLikely benign1048646RCV000327154; RCV000362176; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735642183564218-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*572A>G1497CTNSLikely benign3826493RCV000327354; RCV000272228; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735642353564235-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*577T>C1497CTNSUncertain significance886052869RCV000386582; RCV000293154; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735642403564240-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*627T>C1497CTNSLikely benign1048647RCV000334075; RCV000388542; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735642903564290-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*631T>C1497CTNSLikely benign1048648RCV000280141; RCV000335091; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735642943564294-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*654G>T1497CTNSUncertain significance886052870RCV000399848; RCV000281249; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735643173564317-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*715C>T1497CTNSLikely benign1048649RCV000340873; RCV000407349; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735643783564378-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*737T>A1497CTNSBenign222754RCV000341913; RCV000305693; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735644003564400-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*738T>G1497CTNSBenign224562RCV000407354; RCV000310153; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735644013564401-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*847C>T1497CTNSUncertain significance146131305RCV000364784; RCV000274790; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735645103564510-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*851G>A1497CTNSLikely benign75192283RCV000311245; RCV000370745; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735645143564514-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*871G>C1497CTNSUncertain significance886052871RCV000317330; RCV000276136; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735645343564534-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*942C>T1497CTNSUncertain significance140127855RCV000371954; RCV000262759; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735646053564605-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*1024_*1030delCAAAGCTinsTGAAGCTGTC1497CTNSUncertain significance886052872RCV000317987; RCV000377297; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735646873564693-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*1024C>T1497CTNSLikely benign1048673RCV000342825; RCV000283184; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735646873564687-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*1025A>G1497CTNSLikely benign1048674RCV000288903; RCV000378727; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735646883564688-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*1031_*1033dupGTC1497CTNSLikely benign1355863772RCV000392103; RCV000343923; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735646943564696-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*1033_*1034insGGC1497CTNSUncertain significance397831765RCV000350265; RCV000309304; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735646963564697-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*1046_*1047dupGG1497CTNSUncertain significance772764926RCV000261154; RCV000369727; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735647093564710-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*1047dupG1497CTNSUncertain significance772764926RCV000315019; RCV000392124; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735647103564710-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*1053T>G1497CTNSUncertain significance1048677RCV000357390; RCV000297583; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735647163564716-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*1116C>T1497CTNSLikely benign1048682RCV000262579; RCV000322275; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735647793564779-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*1117G>A1497CTNSLikely benign78833685RCV000376972; RCV000268549; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735647803564780-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*1125C>T1497CTNSUncertain significance886052874RCV000323593; RCV000382978; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735647883564788-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*1152A>G1497CTNSLikely benign2235104RCV000345907; RCV000288599; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735648153564815-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*1165C>T1497CTNSLikely benign112915401RCV000294373; RCV000386495; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735648283564828-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*1176_*1179delCTGT1497CTNSUncertain significance886052875RCV000279022; RCV000336312; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735648393564842-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*1176C>G1497CTNSUncertain significance553878990RCV000301151; RCV000393982; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735648393564839-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*1176_*1177delCT1497CTNSLikely benign397857879RCV000399291; RCV000351600; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735648393564840-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*1206T>C1497CTNSUncertain significance115239409RCV000393992; RCV000358259; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735648693564869-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*1249C>T1497CTNSUncertain significance886052876RCV000361543; RCV000304753; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735649123564912-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*1336G>A1497CTNSUncertain significance541263497RCV000269474; RCV000326823; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735649993564999-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*1366C>G1497CTNSUncertain significance558637146RCV000272573; RCV000365114; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735650293565029-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*1383C>T1497CTNSUncertain significance886052877RCV000386755; RCV000330028; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735650463565046-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*1397C>T1497CTNSUncertain significance886052878RCV000294880; RCV000333599; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735650603565060-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*1440A>G1497CTNSBenign161398RCV000371865; RCV000279748; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735651033565103-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*1472G>A1497CTNSUncertain significance563539494RCV000337163; RCV000398399; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735651353565135-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*1501T>C1497CTNSUncertain significance886052879RCV000283241; RCV000340555; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735651643565164-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*1578C>G1497CTNSLikely benign142813435RCV000305472; RCV000407277; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735652413565241-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*1595C>T1497CTNSLikely benign112299490RCV000362516; RCV000407284; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735652583565258-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*1633C>G1497CTNSLikely benign112032534RCV000367516; RCV000308945; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735652963565296-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*1665A>G1497CTNSLikely benign112317698RCV000275287; RCV000332714; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735653283565328-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*1669C>T1497CTNSUncertain significance117079843RCV000371094; RCV000260064; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735653323565332-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*1680G>A1497CTNSUncertain significance572393960RCV000317597; RCV000374514; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735653433565343-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*1866C>T1497CTNSLikely benign111430685RCV000321199; RCV000282388; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735655293565529-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*1874G>A1497CTNSUncertain significance886052880RCV000378239; RCV000286137; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735655373565537-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*1899G>A1497CTNSUncertain significance563849197RCV000381741; RCV000343372; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735655623565562-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*1956_*1957delAA1497CTNSUncertain significance397856854RCV000391429; RCV000350526; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735656193565620-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*1957delA1497CTNSBenign397856854RCV000389998; RCV000312044; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735656203565620-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*1957dupA1497CTNSUncertain significance397856854RCV000347009; RCV000289679; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735656203565620-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*2036G>A1497CTNSUncertain significance184828971RCV000315484; RCV000353856; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735656993565699-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*2115G>A1497CTNSLikely benign77196744RCV000300170; RCV000261257; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735657783565778-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*2119G>T1497CTNSUncertain significance80249487RCV000264688; RCV000357335; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735657823565782-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*2127G>A1497CTNSUncertain significance72835828RCV000379166; RCV000322177; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735657903565790-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*2132G>A1497CTNSUncertain significance74485511RCV000325761; RCV000268071; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735657953565795-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*2195G>A1497CTNSUncertain significance886052883RCV000290519; RCV000382665; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735658583565858-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*2306T>C1497CTNSBenign161397RCV000386826; RCV000347864; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735659693565969-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*2383dupC1497CTNSBenign397702352RCV000294794; RCV000352116; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735660463566046-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*2477C>G1497CTNSUncertain significance781672689RCV000390206; RCV000298449; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735661403566140-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*2492G>A1497CTNSUncertain significance886052884RCV000393907; RCV000337082; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735661553566155-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*2527G>A1497CTNSUncertain significance886052885RCV000359226; RCV000301559; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735661903566190-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*2546G>C1497CTNSLikely benign1128109RCV000266863; RCV000305526; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735662093566209-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*2550G>A1497CTNSLikely benign1128098RCV000270190; RCV000362589; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735662133566213-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*2569C>T1497CTNSBenign7093RCV000384559; RCV000327551; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735662323566232-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*2584C>T1497CTNSUncertain significance548531950RCV000273768; RCV000331508; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735662473566247-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*2593A>T1497CTNSUncertain significance549150113RCV000388405; RCV000296306; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735662563566256-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*2628C>T1497CTNSUncertain significance886052886RCV000316216; RCV000373421; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735662913566291-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*2662G>A1497CTNSUncertain significance534360650RCV000281246; RCV000338515; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735663253566325-CN035091 Cystinosis;
NM_004937.2(CTNS):c.*2717A>G1497CTNSUncertain significance567476347RCV000400564; RCV000284841; NMedGen:C4316899, Orphanet:ORPHA213,SNOMED CT:190681003; MedGen:C0010690,OMIM:2198001735663803566380-CN035091 Cystinosis;
NM_080704.3(TRPV1):c.-34+7395T>C-1CTNS;TRPV1Benign161380RCV000169540; NMedGen:C0010690,OMIM:2198001735043263504326-C0010690 219800 Nephropathic cystinosis;
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