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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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

Disease Browser
Parent Node: Basal Ganglia Diseases (D001480)
Parent Node: Heredodegenerative Disorders, Nervous System (D020271)
Parent Node: Tic Disorders (D013981)
..Starting node ..Tourette Syndrome (D005879)
Child Nodes:
........Chronic Motor Tics (C563241)
........Modifier, X-Linked, for Neurofunctional Defects (C564098)
Sister Nodes:
..Tourette Syndrome (D005879) 2
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:

Slim Mappings:

Genetic disease (inborn)|Mental disorder|Nervous system disease

Reference:

MedGen: D005879
MeSH: D005879
OMIM: 137580;
MSeqDR :
Genes: AF8T; HDC; SLITRK1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000718	Aggressive behavior
3	HP:0007018	Attention deficit hyperactivity disorder
4	HP:0010529	Echolalia
5	HP:0100034	Motor tics
6	HP:0000722	Obsessive-compulsive behavior
7	HP:0100035	Phonic tics
8	HP:0000742	Self-mutilation
9	HP:0002360	Sleep disturbance

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	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	-

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