MSeqDR Mitochondrial Disease Portal


 
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Basal Ganglia Diseases (D001480)
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Heredodegenerative Disorders, Nervous System (D020271)
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Tic Disorders (D013981)
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Tourette Syndrome (D005879)

       Child Nodes:
........expandChronic Motor Tics (C563241)
........expandModifier, X-Linked, for Neurofunctional Defects (C564098)



 Sister Nodes: 
..expandTourette Syndrome (D005879) Child2
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:12251
Name:Tourette Syndrome
Definition:A neuropsychological disorder related to alterations in DOPAMINE metabolism and neurotransmission involving frontal-subcortical neuronal circuits. Both multiple motor and one or more vocal tics need to be present with TICS occurring many times a day, nearly daily, over a period of more than one year. The onset is before age 18 and the disturbance is not due to direct physiological effects of a substance or a another medical condition. The disturbance causes marked distress or significant impairment in social, occupational, or other important areas of functioning. (From DSM-IV, 1994; Neurol Clin 1997 May;15(2):357-79)
Alternative IDs:DO:DOID:11119|OMIM:137580
ParentIDs:MESH:D001480|MESH:D013981|MESH:D020271
TreeNumbers:C10.228.140.079.898 |C10.228.662.825.800 |C10.574.500.850 |C16.320.400.820 |F03.625.992.850
Synonyms:Chronic Motor and Vocal Tic Disorder |Combined Multiple Motor and Vocal Tic Disorder |Combined Vocal and Multiple Motor Tic Disorder |Gilles de la Tourette's Disease |Gilles De La Tourette's Syndrome |Gilles de la Tourette Syndrome |GTS |Multiple Motor and Voca
Slim Mappings:Genetic disease (inborn)|Mental disorder|Nervous system disease
Reference: MedGen: D005879
MeSH: D005879
OMIM: 137580;
MSeqDR LSDB:  
Genes: AF8T; HDC; SLITRK1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000718Aggressive behavior
3 HP:0007018Attention deficit hyperactivity disorder
4 HP:0010529Echolalia
5 HP:0100034Motor tics
6 HP:0000722Obsessive-compulsive behavior
7 HP:0100035Phonic tics
8 HP:0000742Self-mutilation
9 HP:0002360Sleep disturbance
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001407.3(CELSR3):c.8765G>A (p.Arg2922His)1951CELSR3Likely risk allele-1RCV001849625; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:8563486793434867934348679343-
NM_001407.3(CELSR3):c.7853C>T (p.Ala2618Val)1951CELSR3Likely risk allele-1RCV001849623; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:8563486825874868258748682587-
NM_001407.3(CELSR3):c.2414G>C (p.Ser805Thr)1951CELSR3Benign-1RCV001613530|RCV001849533; NMedGen:CN517202|MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:8563486976544869765448697654-
NM_002112.4(HDC):c.1568T>A (p.Ile523Asn)3067HDCUncertain significance-1RCV001809097; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85615505348785053487850534878-
NM_002112.4(HDC):c.1511C>A (p.Thr504Lys)3067HDCUncertain significancers750738762RCV001335910; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85615505349355053493550534935-
NM_002112.4(HDC):c.951G>A (p.Trp317Ter)3067HDCPathogenicrs267606861RCV000016047; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85615505447175054471715:g.50544717C>TClinGen:CA257397,OMIM:142704.0001C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.*2207C>A114798SLITRK1Uncertain significancers1884707636RCV001109548; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844513458445134513:g.84451345G>T-
NM_001281503.2(SLITRK1):c.*2203T>C114798SLITRK1Uncertain significancers376941086RCV000311657; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844513498445134913:g.84451349A>GClinGen:CA10643665C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.*2186T>A114798SLITRK1Uncertain significancers886050326RCV000366324; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844513668445136613:g.84451366A>TClinGen:CA10639739C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.*2088G>A114798SLITRK1Uncertain significancers974042861RCV001111826; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844514648445146413:g.84451464C>T-
NM_001281503.2(SLITRK1):c.*2087T>C114798SLITRK1Uncertain significancers182027644RCV000271713; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844514658445146513:g.84451465A>GClinGen:CA10639742C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.*2043del114798SLITRK1Likely benignrs66938370RCV000308022; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844515098445150913:g.84451509_84451509delClinGen:CA10634524C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.*2042T>A114798SLITRK1Likely benignrs1046202RCV000362749; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844515108445151013:g.84451510A>TClinGen:CA10639743C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.*1963C>T114798SLITRK1Likely benignrs117206130RCV001111827; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844515898445158913:g.84451589G>A-
NM_001281503.2(SLITRK1):c.*1944A>G114798SLITRK1Uncertain significancers543615109RCV000267967; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844516088445160813:g.84451608T>CClinGen:CA10639750C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.*1882A>T114798SLITRK1Uncertain significancers886050327RCV000323004; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856138445167084451670NC_000013.10:g.84451670T>AClinGen:CA10634525C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.*1785A>G114798SLITRK1Uncertain significancers1884717761RCV001112292; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844517678445176713:g.84451767T>C-
NM_001281503.2(SLITRK1):c.*1742T>G114798SLITRK1Uncertain significancers1594116281RCV001112293; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844518108445181013:g.84451810A>C-
NM_001281503.2(SLITRK1):c.*1738C>A114798SLITRK1Uncertain significancers927605494RCV001112294; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844518148445181413:g.84451814G>T-
NM_001281503.2(SLITRK1):c.*1722A>C114798SLITRK1Uncertain significancers879347345RCV001112295; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844518308445183013:g.84451830T>G-
NM_001281503.2(SLITRK1):c.*1718A>C114798SLITRK1Uncertain significancers930757592RCV001112296; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844518348445183413:g.84451834T>G-
NM_001281503.2(SLITRK1):c.*1666C>T114798SLITRK1Uncertain significancers528447973RCV001112297; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844518868445188613:g.84451886G>A-
NM_001281503.2(SLITRK1):c.*1572C>G114798SLITRK1Uncertain significancers368937569RCV000377755; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856138445198084451980NC_000013.10:g.84451980G>CClinGen:CA10634529C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.*1313C>G114798SLITRK1Uncertain significancers140472390RCV000264505; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856138445223984452239NC_000013.10:g.84452239G>CClinGen:CA10639751C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.*1292G>A114798SLITRK1Uncertain significancers763748811RCV001113638; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844522608445226013:g.84452260C>T-
NM_001281503.2(SLITRK1):c.*1235G>A114798SLITRK1Uncertain significancers775907642RCV001113639; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844523178445231713:g.84452317C>T-
NM_001281503.2(SLITRK1):c.*1160G>A114798SLITRK1Likely benignrs9602286RCV000319366; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856138445239284452392NC_000013.10:g.84452392C>TClinGen:CA10634531C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.*1149dup114798SLITRK1Uncertain significancers886050328RCV000374078; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856138445240284452403NC_000013.10:g.84452408dupClinGen:CA10634533C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.*1134T>C114798SLITRK1Likely benignrs3737193RCV000279692; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856138445241884452418NC_000013.10:g.84452418A>GClinGen:CA10634542C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.*1097A>G114798SLITRK1Uncertain significancers1884732288RCV001109623; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844524558445245513:g.84452455T>C-
NM_001281503.2(SLITRK1):c.*1092G>T114798SLITRK1Uncertain significancers1255142436RCV001109624; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844524608445246013:g.84452460C>A-
NM_001281503.2(SLITRK1):c.*1030G>A114798SLITRK1Uncertain significancers150400704RCV000334714; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856138445252284452522NC_000013.10:g.84452522C>TClinGen:CA10643667C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.*1017G>A114798SLITRK1Uncertain significancers142645261RCV000388914; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856138445253584452535NC_000013.10:g.84452535C>TClinGen:CA10644836C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.*930G>T114798SLITRK1Uncertain significancers753539375RCV001109625; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844526228445262213:g.84452622C>A-
NM_001281503.2(SLITRK1):c.*888T>A114798SLITRK1Uncertain significancers1054049003RCV001109626; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844526648445266413:g.84452664A>T-
NM_001281503.2(SLITRK1):c.*854ATTTT[2]114798SLITRK1Uncertain significancers528376884RCV000294595; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856138445268484452688NC_000013.10:g.84452688TAAAA[2]ClinGen:CA10644838C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.*865T>C114798SLITRK1Uncertain significancers886528117RCV001111926; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844526878445268713:g.84452687A>G-
NM_001281503.2(SLITRK1):c.*843G>A114798SLITRK1Uncertain significancers754645864RCV001111927; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844527098445270913:g.84452709C>T-
NM_001281503.2(SLITRK1):c.*801A>C114798SLITRK1Likely benignrs9593836RCV000349401; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856138445275184452751NC_000013.10:g.84452751T>GClinGen:CA10643668C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.*761G>A114798SLITRK1Uncertain significancers144800086RCV000406332; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856138445279184452791NC_000013.10:g.84452791C>TClinGen:CA10643669C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.*749T>A114798SLITRK1Uncertain significancers544488747RCV001111928; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844528038445280313:g.84452803A>T-
NM_001281503.2(SLITRK1):c.*689G>A114798SLITRK1Pathogenicrs191284403RCV000001646; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844528638445286313:g.84452863C>TClinGen:CA339899,OMIM:609678.0002C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.*649A>G114798SLITRK1Likely benignrs57857456RCV000291154; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856138445290384452903NC_000013.10:g.84452903T>CClinGen:CA10639755C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.*575C>T114798SLITRK1Uncertain significancers886050329RCV000346033; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856138445297784452977NC_000013.10:g.84452977G>AClinGen:CA10634544C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.*544C>A114798SLITRK1Uncertain significancers560253600RCV000405456; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856138445300884453008NC_000013.10:g.84453008G>TClinGen:CA10643670C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.*471T>C114798SLITRK1Uncertain significancers138643687RCV001112381; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844530818445308113:g.84453081A>G-
NM_001281503.2(SLITRK1):c.*282G>A114798SLITRK1Uncertain significancers980172227RCV001112382; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844532708445327013:g.84453270C>T-
NM_001281503.2(SLITRK1):c.*260A>G114798SLITRK1Uncertain significancers141647372RCV001112383; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844532928445329213:g.84453292T>C-
NM_001281503.2(SLITRK1):c.*230T>G114798SLITRK1Uncertain significancers886050330RCV000306499; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856138445332284453322NC_000013.10:g.84453322A>CClinGen:CA10644840C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.*167C>G114798SLITRK1Uncertain significancers886050331RCV000360671; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856138445338584453385NC_000013.10:g.84453385G>CClinGen:CA10644842C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.*98C>T114798SLITRK1Uncertain significancers979904707RCV001113734; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844534548445345413:g.84453454G>A-
NM_001281503.2(SLITRK1):c.*67G>A114798SLITRK1Uncertain significancers568619249RCV000395025; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856138445348584453485NC_000013.10:g.84453485C>TClinGen:CA10643671C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.*39T>A114798SLITRK1Uncertain significancers201603283RCV001113735; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844535138445351313:g.84453513A>T-
NM_001281503.2(SLITRK1):c.*30G>A114798SLITRK1Uncertain significancers760510344RCV001113736; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844535228445352213:g.84453522C>T-
NM_001281503.2(SLITRK1):c.*23G>A114798SLITRK1Uncertain significancers200497030RCV000302339; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856138445352984453529NC_000013.10:g.84453529C>TClinGen:CA7014525C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.2035A>C (p.Asn679His)114798SLITRK1Uncertain significancers886050332RCV000357146; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856138445360884453608NC_000013.10:g.84453608T>GClinGen:CA10643672C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.2010T>C (p.Ser670=)114798SLITRK1Uncertain significancers1884761103RCV001113737; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844536338445363313:g.84453633A>G-
NM_001281503.2(SLITRK1):c.1971C>G (p.Ser657=)114798SLITRK1Conflicting interpretations of pathogenicityrs77908553RCV000968268|RCV001113738; NMedGen:CN517202|MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844536728445367213:g.84453672G>C-
NM_001281503.2(SLITRK1):c.1969T>C (p.Ser657Pro)114798SLITRK1Uncertain significancers886050333RCV000262232; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856138445367484453674NC_000013.10:g.84453674A>GClinGen:CA10643675C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.1954C>A (p.Arg652=)114798SLITRK1Uncertain significancers774882620RCV001109722; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844536898445368913:g.84453689G>T-
NM_001281503.2(SLITRK1):c.1917C>T (p.Leu639=)114798SLITRK1Uncertain significancers147148876RCV001109723; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844537268445372613:g.84453726G>A-
NM_001281503.2(SLITRK1):c.1751G>A (p.Arg584Lys)114798SLITRK1Uncertain significancers1035448844RCV001109724; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844538928445389213:g.84453892C>T-
NM_001281503.2(SLITRK1):c.1651G>A (p.Val551Met)114798SLITRK1Uncertain significancers778653141RCV001109725; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844539928445399213:g.84453992C>T-
NM_001281503.2(SLITRK1):c.1538G>A (p.Gly513Glu)114798SLITRK1Uncertain significancers200447166RCV000317480; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856138445410584454105NC_000013.10:g.84454105C>TClinGen:CA7014629C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.1492A>G (p.Lys498Glu)114798SLITRK1Uncertain significancers886050334RCV000353468; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856138445415184454151NC_000013.10:g.84454151T>CClinGen:CA10643677C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.1405G>A (p.Ala469Thr)114798SLITRK1Uncertain significancers753343543RCV001112030|RCV002555084; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856|MeSH:D030342,MedGen:C095012313844542388445423813:g.84454238C>T-
NM_001281503.2(SLITRK1):c.1264del (p.Leu422fs)114798SLITRK1Pathogenicrs193302861RCV000001645|RCV000001644; NHuman Phenotype Ontology:HP:0012167,MONDO:MONDO:0013189,MedGen:C0040953,OMIM:613229|MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856138445437984454379NC_000013.10:g.84454380delClinGen:CA115070,OMIM:609678.0001
NM_001281503.2(SLITRK1):c.1129G>A (p.Val377Met)114798SLITRK1Uncertain significancers761639713RCV001112031; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844545148445451413:g.84454514C>T-
NM_001281503.2(SLITRK1):c.1122C>T (p.Leu374=)114798SLITRK1Uncertain significancers749904055RCV000277517; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856138445452184454521NC_000013.10:g.84454521G>AClinGen:CA10643679C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.1094G>A (p.Ser365Asn)114798SLITRK1Uncertain significancers886050335RCV000333007; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856138445454984454549NC_000013.10:g.84454549C>TClinGen:CA10643681C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.1028G>A (p.Gly343Glu)114798SLITRK1Uncertain significancers774009598RCV001112032; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844546158445461513:g.84454615C>T-
NM_001281503.2(SLITRK1):c.988T>G (p.Ser330Ala)114798SLITRK1Benign/Likely benignrs145628951RCV000893951|RCV001112473; NMedGen:CN517202|MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844546558445465513:g.84454655A>C-
NM_001281503.2(SLITRK1):c.913C>G (p.Pro305Ala)114798SLITRK1Uncertain significancers867766209RCV000387454; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856138445473084454730NC_000013.10:g.84454730G>CClinGen:CA10634548C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.465G>A (p.Lys155=)114798SLITRK1Uncertain significancers184198908RCV001112474; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844551788445517813:g.84455178C>T-
NM_001281503.2(SLITRK1):c.438C>A (p.Asp146Glu)114798SLITRK1Conflicting interpretations of pathogenicityrs746270900RCV000915943|RCV001112475; NMedGen:CN517202|MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844552058445520513:g.84455205G>T-
NM_001281503.2(SLITRK1):c.341A>G (p.Asn114Ser)114798SLITRK1Uncertain significance-1RCV001809265; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844553028445530284455302-
NM_001281503.2(SLITRK1):c.294T>C (p.Val98=)114798SLITRK1Uncertain significancers751143571RCV000293252; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856138445534984455349NC_000013.10:g.84455349A>GClinGen:CA7014826C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.195G>A (p.Leu65=)114798SLITRK1Uncertain significancers368351965RCV001112476; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844554488445544813:g.84455448C>T-
NM_001281503.2(SLITRK1):c.117C>T (p.His39=)114798SLITRK1Uncertain significancers371889710RCV000329561; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856138445552684455526NC_000013.10:g.84455526G>AClinGen:CA7014848C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.21G>T (p.Leu7Phe)114798SLITRK1Uncertain significancers775620411RCV001112477; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844556228445562213:g.84455622C>A-
NM_001281503.2(SLITRK1):c.-53-17G>C114798SLITRK1Uncertain significancers140875495RCV000383847; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844557128445571213:g.84455712C>GClinGen:CA10643701C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.-53-125A>G114798SLITRK1Uncertain significancers144821830RCV000289694; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844558208445582013:g.84455820T>CClinGen:CA10643711C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.-53-187dup114798SLITRK1Uncertain significancers886050336RCV000344650; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844558818445588213:g.84455881_84455882insCClinGen:CA10644849C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.-53-187del114798SLITRK1Uncertain significancers886050337RCV000391086; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844558828445588213:g.84455882_84455882delClinGen:CA10639758C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.-53-190dup114798SLITRK1Uncertain significancers886050338RCV000285157; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844558828445588313:g.84455882_84455883insAClinGen:CA10639759C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.-53-190_-53-189dup114798SLITRK1Uncertain significancers886050338RCV000340196; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844558828445588313:g.84455882_84455883insAAClinGen:CA10643715C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.-53-211dup114798SLITRK1Uncertain significancers771177138RCV000300445; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844558868445588713:g.84455886_84455887insAClinGen:CA10634555C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.-53-191del114798SLITRK1Uncertain significancers886050339RCV000390623; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844558868445588613:g.84455886_84455886delClinGen:CA10644850C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.-53-213del114798SLITRK1Uncertain significancers886050340RCV000355385; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844559088445590813:g.84455908_84455908delClinGen:CA10639762C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.-53-217del114798SLITRK1Uncertain significancers886050341RCV000406347; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844559128445591213:g.84455912_84455912delClinGen:CA10634556C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.-53-217T>C114798SLITRK1Likely benignrs74099450RCV001113824; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844559128445591213:g.84455912A>G-
NM_001281503.2(SLITRK1):c.-54+219G>A114798SLITRK1Uncertain significancers886050342RCV000297091; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844559208445592013:g.84455920C>TClinGen:CA10639764C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.-54+153C>T114798SLITRK1Uncertain significancers774686146RCV001113825; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844559868445598613:g.84455986G>A-
NM_001281503.2(SLITRK1):c.-54+148G>A114798SLITRK1Uncertain significancers968628551RCV001113826; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844559918445599113:g.84455991C>T-
NM_001281503.2(SLITRK1):c.-54+13C>T114798SLITRK1Uncertain significancers1884825042RCV001113827; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844561268445612613:g.84456126G>A-
NM_001281503.2(SLITRK1):c.-88C>G114798SLITRK1Uncertain significancers551901006RCV000370525; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844561738445617313:g.84456173G>CClinGen:CA10643716C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.-93A>T114798SLITRK1Uncertain significancers886050343RCV000276546; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844561788445617813:g.84456178T>AClinGen:CA10644852C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.-108A>G114798SLITRK1Uncertain significancers867815028RCV000331598; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844561938445619313:g.84456193T>CClinGen:CA10643719C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.-141T>G114798SLITRK1Uncertain significancers886050344RCV000367536; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844562268445622613:g.84456226A>CClinGen:CA10634558C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.-146A>G114798SLITRK1Uncertain significancers886050345RCV000272959; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844562318445623113:g.84456231T>CClinGen:CA10639766C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.-148G>A114798SLITRK1Uncertain significancers571797997RCV000327909; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844562338445623313:g.84456233C>TClinGen:CA10639768C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.-211G>A114798SLITRK1Uncertain significancers567507006RCV000382553; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844562968445629613:g.84456296C>TClinGen:CA10639769C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.-253A>G114798SLITRK1Uncertain significancers886050346RCV000288142; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856138445633884456338NC_000013.10:g.84456338T>CClinGen:CA10644860C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.-254C>T114798SLITRK1Uncertain significancers536165638RCV000324413; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856138445633984456339NC_000013.10:g.84456339G>AClinGen:CA10643721C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.-286G>C114798SLITRK1Uncertain significancers774658734RCV000377677; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856138445637184456371NC_000013.10:g.84456371C>GClinGen:CA10634559C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.-301dup114798SLITRK1Uncertain significancers563861788RCV000283214; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856138445638584456386NC_000013.10:g.84456395dupClinGen:CA10644861C0040517 137580 Tourette Syndrome;
NM_001281503.2(SLITRK1):c.-375G>C114798SLITRK1Uncertain significancers576157045RCV001110586; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844564608445646013:g.84456460C>G-
NM_001281503.2(SLITRK1):c.-391A>C114798SLITRK1Uncertain significancers868735898RCV001110587; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85613844564768445647613:g.84456476T>G-
NM_001281503.2(SLITRK1):c.-410C>G114798SLITRK1Uncertain significancers886050347RCV000338289; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856138445649584456495NC_000013.10:g.84456495G>CClinGen:CA10643725C0040517 137580 Tourette Syndrome;
NM_006940.6(SOX5):c.703C>T (p.Arg235Cys)6660SOX5Uncertain significancers780207349RCV000857305; NMONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:85612238938392389383912:g.23893839G>A-
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