Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_001407.3(CELSR3):c.8765G>A (p.Arg2922His) | 1951 | CELSR3 | Likely risk allele | -1 | RCV001849625; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 3 | 48679343 | 48679343 | | | 48679343 | - | | |
NM_001407.3(CELSR3):c.7853C>T (p.Ala2618Val) | 1951 | CELSR3 | Likely risk allele | -1 | RCV001849623; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 3 | 48682587 | 48682587 | | | 48682587 | - | | |
NM_001407.3(CELSR3):c.2414G>C (p.Ser805Thr) | 1951 | CELSR3 | Benign | -1 | RCV001613530|RCV001849533; | N | MedGen:CN517202|MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 3 | 48697654 | 48697654 | | | 48697654 | - | | |
NM_002112.4(HDC):c.1568T>A (p.Ile523Asn) | 3067 | HDC | Uncertain significance | -1 | RCV001809097; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 15 | 50534878 | 50534878 | | | 50534878 | - | | |
NM_002112.4(HDC):c.1511C>A (p.Thr504Lys) | 3067 | HDC | Uncertain significance | rs750738762 | RCV001335910; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 15 | 50534935 | 50534935 | | | 50534935 | - | | |
NM_002112.4(HDC):c.951G>A (p.Trp317Ter) | 3067 | HDC | Pathogenic | rs267606861 | RCV000016047; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 15 | 50544717 | 50544717 | | | 15:g.50544717C>T | ClinGen:CA257397,OMIM:142704.0001 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.*2207C>A | 114798 | SLITRK1 | Uncertain significance | rs1884707636 | RCV001109548; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84451345 | 84451345 | | | 13:g.84451345G>T | - | | |
NM_001281503.2(SLITRK1):c.*2203T>C | 114798 | SLITRK1 | Uncertain significance | rs376941086 | RCV000311657; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84451349 | 84451349 | | | 13:g.84451349A>G | ClinGen:CA10643665 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.*2186T>A | 114798 | SLITRK1 | Uncertain significance | rs886050326 | RCV000366324; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84451366 | 84451366 | | | 13:g.84451366A>T | ClinGen:CA10639739 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.*2088G>A | 114798 | SLITRK1 | Uncertain significance | rs974042861 | RCV001111826; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84451464 | 84451464 | | | 13:g.84451464C>T | - | | |
NM_001281503.2(SLITRK1):c.*2087T>C | 114798 | SLITRK1 | Uncertain significance | rs182027644 | RCV000271713; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84451465 | 84451465 | | | 13:g.84451465A>G | ClinGen:CA10639742 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.*2043del | 114798 | SLITRK1 | Likely benign | rs66938370 | RCV000308022; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84451509 | 84451509 | | | 13:g.84451509_84451509del | ClinGen:CA10634524 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.*2042T>A | 114798 | SLITRK1 | Likely benign | rs1046202 | RCV000362749; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84451510 | 84451510 | | | 13:g.84451510A>T | ClinGen:CA10639743 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.*1963C>T | 114798 | SLITRK1 | Likely benign | rs117206130 | RCV001111827; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84451589 | 84451589 | | | 13:g.84451589G>A | - | | |
NM_001281503.2(SLITRK1):c.*1944A>G | 114798 | SLITRK1 | Uncertain significance | rs543615109 | RCV000267967; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84451608 | 84451608 | | | 13:g.84451608T>C | ClinGen:CA10639750 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.*1882A>T | 114798 | SLITRK1 | Uncertain significance | rs886050327 | RCV000323004; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84451670 | 84451670 | | | NC_000013.10:g.84451670T>A | ClinGen:CA10634525 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.*1785A>G | 114798 | SLITRK1 | Uncertain significance | rs1884717761 | RCV001112292; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84451767 | 84451767 | | | 13:g.84451767T>C | - | | |
NM_001281503.2(SLITRK1):c.*1742T>G | 114798 | SLITRK1 | Uncertain significance | rs1594116281 | RCV001112293; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84451810 | 84451810 | | | 13:g.84451810A>C | - | | |
NM_001281503.2(SLITRK1):c.*1738C>A | 114798 | SLITRK1 | Uncertain significance | rs927605494 | RCV001112294; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84451814 | 84451814 | | | 13:g.84451814G>T | - | | |
NM_001281503.2(SLITRK1):c.*1722A>C | 114798 | SLITRK1 | Uncertain significance | rs879347345 | RCV001112295; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84451830 | 84451830 | | | 13:g.84451830T>G | - | | |
NM_001281503.2(SLITRK1):c.*1718A>C | 114798 | SLITRK1 | Uncertain significance | rs930757592 | RCV001112296; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84451834 | 84451834 | | | 13:g.84451834T>G | - | | |
NM_001281503.2(SLITRK1):c.*1666C>T | 114798 | SLITRK1 | Uncertain significance | rs528447973 | RCV001112297; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84451886 | 84451886 | | | 13:g.84451886G>A | - | | |
NM_001281503.2(SLITRK1):c.*1572C>G | 114798 | SLITRK1 | Uncertain significance | rs368937569 | RCV000377755; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84451980 | 84451980 | | | NC_000013.10:g.84451980G>C | ClinGen:CA10634529 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.*1313C>G | 114798 | SLITRK1 | Uncertain significance | rs140472390 | RCV000264505; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84452239 | 84452239 | | | NC_000013.10:g.84452239G>C | ClinGen:CA10639751 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.*1292G>A | 114798 | SLITRK1 | Uncertain significance | rs763748811 | RCV001113638; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84452260 | 84452260 | | | 13:g.84452260C>T | - | | |
NM_001281503.2(SLITRK1):c.*1235G>A | 114798 | SLITRK1 | Uncertain significance | rs775907642 | RCV001113639; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84452317 | 84452317 | | | 13:g.84452317C>T | - | | |
NM_001281503.2(SLITRK1):c.*1160G>A | 114798 | SLITRK1 | Likely benign | rs9602286 | RCV000319366; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84452392 | 84452392 | | | NC_000013.10:g.84452392C>T | ClinGen:CA10634531 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.*1149dup | 114798 | SLITRK1 | Uncertain significance | rs886050328 | RCV000374078; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84452402 | 84452403 | | | NC_000013.10:g.84452408dup | ClinGen:CA10634533 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.*1134T>C | 114798 | SLITRK1 | Likely benign | rs3737193 | RCV000279692; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84452418 | 84452418 | | | NC_000013.10:g.84452418A>G | ClinGen:CA10634542 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.*1097A>G | 114798 | SLITRK1 | Uncertain significance | rs1884732288 | RCV001109623; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84452455 | 84452455 | | | 13:g.84452455T>C | - | | |
NM_001281503.2(SLITRK1):c.*1092G>T | 114798 | SLITRK1 | Uncertain significance | rs1255142436 | RCV001109624; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84452460 | 84452460 | | | 13:g.84452460C>A | - | | |
NM_001281503.2(SLITRK1):c.*1030G>A | 114798 | SLITRK1 | Uncertain significance | rs150400704 | RCV000334714; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84452522 | 84452522 | | | NC_000013.10:g.84452522C>T | ClinGen:CA10643667 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.*1017G>A | 114798 | SLITRK1 | Uncertain significance | rs142645261 | RCV000388914; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84452535 | 84452535 | | | NC_000013.10:g.84452535C>T | ClinGen:CA10644836 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.*930G>T | 114798 | SLITRK1 | Uncertain significance | rs753539375 | RCV001109625; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84452622 | 84452622 | | | 13:g.84452622C>A | - | | |
NM_001281503.2(SLITRK1):c.*888T>A | 114798 | SLITRK1 | Uncertain significance | rs1054049003 | RCV001109626; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84452664 | 84452664 | | | 13:g.84452664A>T | - | | |
NM_001281503.2(SLITRK1):c.*854ATTTT[2] | 114798 | SLITRK1 | Uncertain significance | rs528376884 | RCV000294595; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84452684 | 84452688 | | | NC_000013.10:g.84452688TAAAA[2] | ClinGen:CA10644838 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.*865T>C | 114798 | SLITRK1 | Uncertain significance | rs886528117 | RCV001111926; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84452687 | 84452687 | | | 13:g.84452687A>G | - | | |
NM_001281503.2(SLITRK1):c.*843G>A | 114798 | SLITRK1 | Uncertain significance | rs754645864 | RCV001111927; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84452709 | 84452709 | | | 13:g.84452709C>T | - | | |
NM_001281503.2(SLITRK1):c.*801A>C | 114798 | SLITRK1 | Likely benign | rs9593836 | RCV000349401; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84452751 | 84452751 | | | NC_000013.10:g.84452751T>G | ClinGen:CA10643668 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.*761G>A | 114798 | SLITRK1 | Uncertain significance | rs144800086 | RCV000406332; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84452791 | 84452791 | | | NC_000013.10:g.84452791C>T | ClinGen:CA10643669 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.*749T>A | 114798 | SLITRK1 | Uncertain significance | rs544488747 | RCV001111928; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84452803 | 84452803 | | | 13:g.84452803A>T | - | | |
NM_001281503.2(SLITRK1):c.*689G>A | 114798 | SLITRK1 | Pathogenic | rs191284403 | RCV000001646; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84452863 | 84452863 | | | 13:g.84452863C>T | ClinGen:CA339899,OMIM:609678.0002 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.*649A>G | 114798 | SLITRK1 | Likely benign | rs57857456 | RCV000291154; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84452903 | 84452903 | | | NC_000013.10:g.84452903T>C | ClinGen:CA10639755 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.*575C>T | 114798 | SLITRK1 | Uncertain significance | rs886050329 | RCV000346033; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84452977 | 84452977 | | | NC_000013.10:g.84452977G>A | ClinGen:CA10634544 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.*544C>A | 114798 | SLITRK1 | Uncertain significance | rs560253600 | RCV000405456; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84453008 | 84453008 | | | NC_000013.10:g.84453008G>T | ClinGen:CA10643670 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.*471T>C | 114798 | SLITRK1 | Uncertain significance | rs138643687 | RCV001112381; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84453081 | 84453081 | | | 13:g.84453081A>G | - | | |
NM_001281503.2(SLITRK1):c.*282G>A | 114798 | SLITRK1 | Uncertain significance | rs980172227 | RCV001112382; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84453270 | 84453270 | | | 13:g.84453270C>T | - | | |
NM_001281503.2(SLITRK1):c.*260A>G | 114798 | SLITRK1 | Uncertain significance | rs141647372 | RCV001112383; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84453292 | 84453292 | | | 13:g.84453292T>C | - | | |
NM_001281503.2(SLITRK1):c.*230T>G | 114798 | SLITRK1 | Uncertain significance | rs886050330 | RCV000306499; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84453322 | 84453322 | | | NC_000013.10:g.84453322A>C | ClinGen:CA10644840 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.*167C>G | 114798 | SLITRK1 | Uncertain significance | rs886050331 | RCV000360671; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84453385 | 84453385 | | | NC_000013.10:g.84453385G>C | ClinGen:CA10644842 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.*98C>T | 114798 | SLITRK1 | Uncertain significance | rs979904707 | RCV001113734; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84453454 | 84453454 | | | 13:g.84453454G>A | - | | |
NM_001281503.2(SLITRK1):c.*67G>A | 114798 | SLITRK1 | Uncertain significance | rs568619249 | RCV000395025; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84453485 | 84453485 | | | NC_000013.10:g.84453485C>T | ClinGen:CA10643671 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.*39T>A | 114798 | SLITRK1 | Uncertain significance | rs201603283 | RCV001113735; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84453513 | 84453513 | | | 13:g.84453513A>T | - | | |
NM_001281503.2(SLITRK1):c.*30G>A | 114798 | SLITRK1 | Uncertain significance | rs760510344 | RCV001113736; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84453522 | 84453522 | | | 13:g.84453522C>T | - | | |
NM_001281503.2(SLITRK1):c.*23G>A | 114798 | SLITRK1 | Uncertain significance | rs200497030 | RCV000302339; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84453529 | 84453529 | | | NC_000013.10:g.84453529C>T | ClinGen:CA7014525 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.2035A>C (p.Asn679His) | 114798 | SLITRK1 | Uncertain significance | rs886050332 | RCV000357146; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84453608 | 84453608 | | | NC_000013.10:g.84453608T>G | ClinGen:CA10643672 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.2010T>C (p.Ser670=) | 114798 | SLITRK1 | Uncertain significance | rs1884761103 | RCV001113737; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84453633 | 84453633 | | | 13:g.84453633A>G | - | | |
NM_001281503.2(SLITRK1):c.1971C>G (p.Ser657=) | 114798 | SLITRK1 | Conflicting interpretations of pathogenicity | rs77908553 | RCV000968268|RCV001113738; | N | MedGen:CN517202|MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84453672 | 84453672 | | | 13:g.84453672G>C | - | | |
NM_001281503.2(SLITRK1):c.1969T>C (p.Ser657Pro) | 114798 | SLITRK1 | Uncertain significance | rs886050333 | RCV000262232; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84453674 | 84453674 | | | NC_000013.10:g.84453674A>G | ClinGen:CA10643675 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.1954C>A (p.Arg652=) | 114798 | SLITRK1 | Uncertain significance | rs774882620 | RCV001109722; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84453689 | 84453689 | | | 13:g.84453689G>T | - | | |
NM_001281503.2(SLITRK1):c.1917C>T (p.Leu639=) | 114798 | SLITRK1 | Uncertain significance | rs147148876 | RCV001109723; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84453726 | 84453726 | | | 13:g.84453726G>A | - | | |
NM_001281503.2(SLITRK1):c.1751G>A (p.Arg584Lys) | 114798 | SLITRK1 | Uncertain significance | rs1035448844 | RCV001109724; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84453892 | 84453892 | | | 13:g.84453892C>T | - | | |
NM_001281503.2(SLITRK1):c.1651G>A (p.Val551Met) | 114798 | SLITRK1 | Uncertain significance | rs778653141 | RCV001109725; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84453992 | 84453992 | | | 13:g.84453992C>T | - | | |
NM_001281503.2(SLITRK1):c.1538G>A (p.Gly513Glu) | 114798 | SLITRK1 | Uncertain significance | rs200447166 | RCV000317480; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84454105 | 84454105 | | | NC_000013.10:g.84454105C>T | ClinGen:CA7014629 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.1492A>G (p.Lys498Glu) | 114798 | SLITRK1 | Uncertain significance | rs886050334 | RCV000353468; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84454151 | 84454151 | | | NC_000013.10:g.84454151T>C | ClinGen:CA10643677 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.1405G>A (p.Ala469Thr) | 114798 | SLITRK1 | Uncertain significance | rs753343543 | RCV001112030|RCV002555084; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856|MeSH:D030342,MedGen:C0950123 | 13 | 84454238 | 84454238 | | | 13:g.84454238C>T | - | | |
NM_001281503.2(SLITRK1):c.1264del (p.Leu422fs) | 114798 | SLITRK1 | Pathogenic | rs193302861 | RCV000001645|RCV000001644; | N | Human Phenotype Ontology:HP:0012167,MONDO:MONDO:0013189,MedGen:C0040953,OMIM:613229|MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84454379 | 84454379 | | | NC_000013.10:g.84454380del | ClinGen:CA115070,OMIM:609678.0001 | | |
NM_001281503.2(SLITRK1):c.1129G>A (p.Val377Met) | 114798 | SLITRK1 | Uncertain significance | rs761639713 | RCV001112031; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84454514 | 84454514 | | | 13:g.84454514C>T | - | | |
NM_001281503.2(SLITRK1):c.1122C>T (p.Leu374=) | 114798 | SLITRK1 | Uncertain significance | rs749904055 | RCV000277517; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84454521 | 84454521 | | | NC_000013.10:g.84454521G>A | ClinGen:CA10643679 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.1094G>A (p.Ser365Asn) | 114798 | SLITRK1 | Uncertain significance | rs886050335 | RCV000333007; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84454549 | 84454549 | | | NC_000013.10:g.84454549C>T | ClinGen:CA10643681 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.1028G>A (p.Gly343Glu) | 114798 | SLITRK1 | Uncertain significance | rs774009598 | RCV001112032; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84454615 | 84454615 | | | 13:g.84454615C>T | - | | |
NM_001281503.2(SLITRK1):c.988T>G (p.Ser330Ala) | 114798 | SLITRK1 | Benign/Likely benign | rs145628951 | RCV000893951|RCV001112473; | N | MedGen:CN517202|MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84454655 | 84454655 | | | 13:g.84454655A>C | - | | |
NM_001281503.2(SLITRK1):c.913C>G (p.Pro305Ala) | 114798 | SLITRK1 | Uncertain significance | rs867766209 | RCV000387454; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84454730 | 84454730 | | | NC_000013.10:g.84454730G>C | ClinGen:CA10634548 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.465G>A (p.Lys155=) | 114798 | SLITRK1 | Uncertain significance | rs184198908 | RCV001112474; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84455178 | 84455178 | | | 13:g.84455178C>T | - | | |
NM_001281503.2(SLITRK1):c.438C>A (p.Asp146Glu) | 114798 | SLITRK1 | Conflicting interpretations of pathogenicity | rs746270900 | RCV000915943|RCV001112475; | N | MedGen:CN517202|MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84455205 | 84455205 | | | 13:g.84455205G>T | - | | |
NM_001281503.2(SLITRK1):c.341A>G (p.Asn114Ser) | 114798 | SLITRK1 | Uncertain significance | -1 | RCV001809265; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84455302 | 84455302 | | | 84455302 | - | | |
NM_001281503.2(SLITRK1):c.294T>C (p.Val98=) | 114798 | SLITRK1 | Uncertain significance | rs751143571 | RCV000293252; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84455349 | 84455349 | | | NC_000013.10:g.84455349A>G | ClinGen:CA7014826 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.195G>A (p.Leu65=) | 114798 | SLITRK1 | Uncertain significance | rs368351965 | RCV001112476; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84455448 | 84455448 | | | 13:g.84455448C>T | - | | |
NM_001281503.2(SLITRK1):c.117C>T (p.His39=) | 114798 | SLITRK1 | Uncertain significance | rs371889710 | RCV000329561; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84455526 | 84455526 | | | NC_000013.10:g.84455526G>A | ClinGen:CA7014848 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.21G>T (p.Leu7Phe) | 114798 | SLITRK1 | Uncertain significance | rs775620411 | RCV001112477; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84455622 | 84455622 | | | 13:g.84455622C>A | - | | |
NM_001281503.2(SLITRK1):c.-53-17G>C | 114798 | SLITRK1 | Uncertain significance | rs140875495 | RCV000383847; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84455712 | 84455712 | | | 13:g.84455712C>G | ClinGen:CA10643701 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.-53-125A>G | 114798 | SLITRK1 | Uncertain significance | rs144821830 | RCV000289694; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84455820 | 84455820 | | | 13:g.84455820T>C | ClinGen:CA10643711 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.-53-187dup | 114798 | SLITRK1 | Uncertain significance | rs886050336 | RCV000344650; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84455881 | 84455882 | | | 13:g.84455881_84455882insC | ClinGen:CA10644849 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.-53-187del | 114798 | SLITRK1 | Uncertain significance | rs886050337 | RCV000391086; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84455882 | 84455882 | | | 13:g.84455882_84455882del | ClinGen:CA10639758 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.-53-190dup | 114798 | SLITRK1 | Uncertain significance | rs886050338 | RCV000285157; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84455882 | 84455883 | | | 13:g.84455882_84455883insA | ClinGen:CA10639759 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.-53-190_-53-189dup | 114798 | SLITRK1 | Uncertain significance | rs886050338 | RCV000340196; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84455882 | 84455883 | | | 13:g.84455882_84455883insAA | ClinGen:CA10643715 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.-53-211dup | 114798 | SLITRK1 | Uncertain significance | rs771177138 | RCV000300445; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84455886 | 84455887 | | | 13:g.84455886_84455887insA | ClinGen:CA10634555 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.-53-191del | 114798 | SLITRK1 | Uncertain significance | rs886050339 | RCV000390623; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84455886 | 84455886 | | | 13:g.84455886_84455886del | ClinGen:CA10644850 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.-53-213del | 114798 | SLITRK1 | Uncertain significance | rs886050340 | RCV000355385; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84455908 | 84455908 | | | 13:g.84455908_84455908del | ClinGen:CA10639762 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.-53-217del | 114798 | SLITRK1 | Uncertain significance | rs886050341 | RCV000406347; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84455912 | 84455912 | | | 13:g.84455912_84455912del | ClinGen:CA10634556 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.-53-217T>C | 114798 | SLITRK1 | Likely benign | rs74099450 | RCV001113824; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84455912 | 84455912 | | | 13:g.84455912A>G | - | | |
NM_001281503.2(SLITRK1):c.-54+219G>A | 114798 | SLITRK1 | Uncertain significance | rs886050342 | RCV000297091; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84455920 | 84455920 | | | 13:g.84455920C>T | ClinGen:CA10639764 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.-54+153C>T | 114798 | SLITRK1 | Uncertain significance | rs774686146 | RCV001113825; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84455986 | 84455986 | | | 13:g.84455986G>A | - | | |
NM_001281503.2(SLITRK1):c.-54+148G>A | 114798 | SLITRK1 | Uncertain significance | rs968628551 | RCV001113826; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84455991 | 84455991 | | | 13:g.84455991C>T | - | | |
NM_001281503.2(SLITRK1):c.-54+13C>T | 114798 | SLITRK1 | Uncertain significance | rs1884825042 | RCV001113827; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84456126 | 84456126 | | | 13:g.84456126G>A | - | | |
NM_001281503.2(SLITRK1):c.-88C>G | 114798 | SLITRK1 | Uncertain significance | rs551901006 | RCV000370525; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84456173 | 84456173 | | | 13:g.84456173G>C | ClinGen:CA10643716 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.-93A>T | 114798 | SLITRK1 | Uncertain significance | rs886050343 | RCV000276546; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84456178 | 84456178 | | | 13:g.84456178T>A | ClinGen:CA10644852 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.-108A>G | 114798 | SLITRK1 | Uncertain significance | rs867815028 | RCV000331598; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84456193 | 84456193 | | | 13:g.84456193T>C | ClinGen:CA10643719 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.-141T>G | 114798 | SLITRK1 | Uncertain significance | rs886050344 | RCV000367536; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84456226 | 84456226 | | | 13:g.84456226A>C | ClinGen:CA10634558 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.-146A>G | 114798 | SLITRK1 | Uncertain significance | rs886050345 | RCV000272959; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84456231 | 84456231 | | | 13:g.84456231T>C | ClinGen:CA10639766 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.-148G>A | 114798 | SLITRK1 | Uncertain significance | rs571797997 | RCV000327909; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84456233 | 84456233 | | | 13:g.84456233C>T | ClinGen:CA10639768 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.-211G>A | 114798 | SLITRK1 | Uncertain significance | rs567507006 | RCV000382553; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84456296 | 84456296 | | | 13:g.84456296C>T | ClinGen:CA10639769 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.-253A>G | 114798 | SLITRK1 | Uncertain significance | rs886050346 | RCV000288142; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84456338 | 84456338 | | | NC_000013.10:g.84456338T>C | ClinGen:CA10644860 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.-254C>T | 114798 | SLITRK1 | Uncertain significance | rs536165638 | RCV000324413; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84456339 | 84456339 | | | NC_000013.10:g.84456339G>A | ClinGen:CA10643721 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.-286G>C | 114798 | SLITRK1 | Uncertain significance | rs774658734 | RCV000377677; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84456371 | 84456371 | | | NC_000013.10:g.84456371C>G | ClinGen:CA10634559 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.-301dup | 114798 | SLITRK1 | Uncertain significance | rs563861788 | RCV000283214; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84456385 | 84456386 | | | NC_000013.10:g.84456395dup | ClinGen:CA10644861 | C0040517 137580 Tourette Syndrome; | |
NM_001281503.2(SLITRK1):c.-375G>C | 114798 | SLITRK1 | Uncertain significance | rs576157045 | RCV001110586; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84456460 | 84456460 | | | 13:g.84456460C>G | - | | |
NM_001281503.2(SLITRK1):c.-391A>C | 114798 | SLITRK1 | Uncertain significance | rs868735898 | RCV001110587; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84456476 | 84456476 | | | 13:g.84456476T>G | - | | |
NM_001281503.2(SLITRK1):c.-410C>G | 114798 | SLITRK1 | Uncertain significance | rs886050347 | RCV000338289; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 13 | 84456495 | 84456495 | | | NC_000013.10:g.84456495G>C | ClinGen:CA10643725 | C0040517 137580 Tourette Syndrome; | |
NM_006940.6(SOX5):c.703C>T (p.Arg235Cys) | 6660 | SOX5 | Uncertain significance | rs780207349 | RCV000857305; | N | MONDO:MONDO:0007661,MedGen:C0040517,OMIM:137580, Orphanet:856 | 12 | 23893839 | 23893839 | | | 12:g.23893839G>A | - | | |