TH (tyrosine hydroxylase) - Rat Genome Database

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Gene: TH (tyrosine hydroxylase) Homo sapiens
Analyze
Symbol: TH
Name: tyrosine hydroxylase
RGD ID: 733897
HGNC Page HGNC:11782
Description: Enables enzyme binding activity; identical protein binding activity; and tyrosine 3-monooxygenase activity. Involved in catecholamine biosynthetic process; response to ethanol; and response to hypoxia. Located in several cellular components, including cytoplasmic side of plasma membrane; melanosome membrane; and smooth endoplasmic reticulum. Implicated in Parkinson's disease; Parkinsonism; heroin dependence; hypertension; and obesity. Biomarker of Parkinson's disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: dystonia 14; DYT14; DYT5b; TYH; tyrosine 3-hydroxylase; tyrosine 3-monooxygenase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Black Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38112,163,929 - 2,171,815 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl112,163,929 - 2,171,968 (-)Ensemblhg38GRCh38
GRCh37112,185,159 - 2,193,045 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36112,141,735 - 2,149,611 (-)NCBIBuild 36Build 36hg18NCBI36
Build 34112,141,735 - 2,149,605NCBI
Celera112,221,752 - 2,229,624 (-)NCBICelera
Cytogenetic Map11p15.5NCBI
HuRef111,975,424 - 1,983,299 (-)NCBIHuRef
CHM1_1112,183,941 - 2,191,817 (-)NCBICHM1_1
T2T-CHM13v2.0112,253,295 - 2,261,192 (-)NCBIT2T-CHM13v2.0
JBrowse:




Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (ISO)
(+)-sesamin  (ISO)
(+)-taxifolin  (ISO)
(-)-epigallocatechin 3-gallate  (ISO)
(-)-selegiline  (ISO)
(R)-adrenaline  (ISO)
(R)-noradrenaline  (ISO)
(R,R,R)-alpha-tocopherol  (ISO)
(S)-AMPA  (ISO)
(S)-amphetamine  (ISO)
(S)-naringenin  (ISO)
(S)-nicotine  (EXP,ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (EXP,ISO)
1-Naphthylacetylspermine  (ISO)
15-deoxy-Delta(12,14)-prostaglandin J2  (ISO)
17beta-estradiol  (EXP,ISO)
2',5'-Dideoxyadenosine  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-D  (ISO)
2-methyl-6-(phenylethynyl)pyridine  (ISO)
3,4-dihydroxyphenylacetaldehyde  (ISO)
3,5-dichloro-N-[[(2S)-1-ethyl-2-pyrrolidinyl]methyl]-2-hydroxy-6-methoxybenzamide  (ISO)
3,7-dihydropurine-6-thione  (ISO)
3-\{1-[3-(dimethylamino)propyl]-1H-indol-3-yl\}-4-(1H-indol-3-yl)-1H-pyrrole-2,5-dione  (ISO)
3-Amino-1-methyl-5H-pyrido[4,3-b]indole  (ISO)
3-hydroxybutyric acid  (ISO)
3-methyladenine  (ISO)
3-phenylprop-2-enal  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-phenylbutyric acid  (ISO)
5-(2-chloroethyl)-4-methylthiazole  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (ISO)
6-propyl-2-thiouracil  (ISO)
7-nitroindazole  (ISO)
8-bromo-3',5'-cyclic GMP  (ISO)
9-cis-retinoic acid  (EXP)
acetic acid  (ISO)
acetylcholine  (ISO)
acrylamide  (ISO)
acrylonitrile  (ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
agmatine  (ISO)
albiflorin  (ISO)
all-trans-retinoic acid  (EXP,ISO)
AM-251  (ISO)
amentoflavone  (ISO)
aminoguanidine  (ISO)
amitraz  (ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
apigenin  (ISO)
apocynin  (ISO)
aprepitant  (ISO)
Aroclor 1254  (ISO)
arsane  (ISO)
arsenic atom  (ISO)
arsenite(3-)  (ISO)
arsenous acid  (EXP,ISO)
asiaticoside  (ISO)
atrazine  (EXP,ISO)
baicalein  (ISO)
baicalin  (ISO)
Bardoxolone methyl  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-lapachone  (EXP)
bicuculline  (ISO)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
BQ 123  (ISO)
bromochloroacetic acid  (ISO)
bucladesine  (ISO)
butanal  (EXP)
Butylparaben  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
caffeine  (ISO)
calcitriol  (EXP,ISO)
cannabidiol  (ISO)
carmustine  (ISO)
carnosic acid  (ISO)
Carnosol  (ISO)
carvedilol  (ISO)
chelerythrine  (ISO)
chitosan  (ISO)
Chloralose  (ISO)
chlorisondamine  (ISO)
chlorpyrifos  (EXP,ISO)
cisplatin  (ISO)
clonidine  (ISO)
clonidine (amino form)  (ISO)
clonidine (imino form)  (ISO)
clozapine  (ISO)
cobalt dichloride  (ISO)
cocaine  (ISO)
colforsin daropate hydrochloride  (EXP,ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (ISO)
corticosterone  (ISO)
Cuprizon  (ISO)
curcumin  (EXP,ISO)
cyanazine  (ISO)
cyanocob(III)alamin  (ISO)
cyclosporin A  (EXP)
cyhalothrin  (ISO)
cypermethrin  (ISO)
cytarabine  (EXP)
dabigatran  (ISO)
DDE  (ISO)
desferrioxamine B  (ISO)
desipramine  (ISO)
dexamethasone  (ISO)
diarsenic trioxide  (EXP,ISO)
diazinon  (ISO)
dichlorvos  (ISO)
dieldrin  (ISO)
diethyldithiocarbamic acid  (ISO)
dioxygen  (ISO)
dipyridamole  (ISO)
dopamine  (EXP,ISO)
dopaminechrome (enol form)  (ISO)
edaravone  (ISO)
elemental selenium  (ISO)
enzacamene  (ISO)
epibatidine  (ISO)
ethanol  (ISO)
fasudil  (ISO)
fenvalerate  (ISO)
ferrostatin-1  (ISO)
fipronil  (EXP)
flavonoids  (ISO)
fluoxetine  (ISO)
formaldehyde  (ISO)
fructose  (ISO)
ganglioside GM1  (ISO)
genistein  (ISO)
geraniol  (ISO)
ginkgetin  (ISO)
ginsenoside Re  (EXP,ISO)
glyburide  (ISO)
glycidol  (ISO)
guanethidine  (ISO)
GW 1929  (ISO)
haloperidol  (ISO)
heptachlor  (ISO)
herbicide  (ISO)
hydrogen peroxide  (EXP,ISO)
icariin  (ISO)
idazoxan  (ISO)
imidacloprid  (ISO)
juglone  (ISO)
ketoconazole  (ISO)
KT 5720  (ISO)
L-ascorbic acid  (ISO)
lead(0)  (ISO)
linalool  (ISO)
linuron  (ISO)
lipopolysaccharide  (ISO)
lithium atom  (ISO)
lithium hydride  (ISO)
lovastatin  (EXP,ISO)
LY294002  (ISO)
malathion  (ISO)
maneb  (ISO)
manganese atom  (ISO)
manganese(0)  (ISO)
manganese(II) chloride  (EXP,ISO)
manganese(II) sulfate  (ISO)
melatonin  (EXP,ISO)
mephedrone  (ISO)
mercaptopurine  (ISO)
metformin  (ISO)
methamphetamine  (EXP,ISO)
methoxychlor  (ISO)
methyllycaconitine  (EXP)
methylmercury chloride  (ISO)
methylphenidate  (ISO)
mevalonic acid  (EXP,ISO)
mifepristone  (EXP,ISO)
minocycline  (ISO)
misonidazole  (ISO)
mono(2-ethylhexyl) phthalate  (EXP,ISO)
monocrotophos  (ISO)
monosodium L-glutamate  (ISO)
montelukast  (ISO)
morphine  (ISO)
N(gamma)-nitro-L-arginine methyl ester  (ISO)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (ISO)
N-acetyl-L-cysteine  (ISO)
N-ethyl-N-nitrosourea  (ISO)
N-ethylmaleimide  (ISO)
N-methyl-4-phenylpyridinium  (EXP,ISO)
N-nitrosodiethylamine  (ISO)
naloxone  (ISO)
naltrexone  (ISO)
nickel atom  (ISO)
nickel dichloride  (EXP)
nicotine  (EXP,ISO)
nimodipine  (ISO)
nitroprusside  (ISO)
Nookatone  (ISO)
Norbinaltorphimine  (ISO)
olanzapine  (ISO)
oleuropein  (ISO)
oridonin  (ISO)
Ortho-topolin riboside  (EXP)
oxidopamine  (EXP,ISO)
P(1),P(4)-bis(5'-adenosyl) tetraphosphate  (ISO)
paracetamol  (ISO)
paraquat  (EXP,ISO)
pentanal  (EXP)
perfluorodecanoic acid  (ISO)
perfluorododecanoic acid  (ISO)
perfluorononanoic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
perfluoroundecanoic acid  (ISO)
permethrin  (ISO)
phencyclidine  (ISO)
Phenelzine  (ISO)
phenethyl caffeate  (ISO)
phorbol 13-acetate 12-myristate  (EXP,ISO)
piperazine  (EXP)
piperonyl butoxide  (ISO)
pirinixic acid  (EXP)
pregabalin  (ISO)
probenecid  (ISO)
progesterone  (ISO)
propanal  (EXP)
propionic acid  (ISO)
propofol  (ISO)
prothioconazole  (EXP)
purine-6-thiol  (ISO)
pyrrolidine dithiocarbamate  (ISO)
pyrroloquinoline quinone  (ISO)
quercetin  (ISO)
quercetin 3-O-beta-D-glucofuranoside  (ISO)
quercetin 3-O-beta-D-glucopyranoside  (ISO)
reserpine  (ISO)
resveratrol  (EXP,ISO)
rimonabant  (ISO)
risperidone  (ISO)
rotenone  (ISO)
rottlerin  (ISO)
rutin  (ISO)
salubrinal  (ISO)
saxagliptin  (ISO)
SB 203580  (ISO)
SCH 23390  (ISO)
selenium atom  (ISO)
simazine  (ISO)
sodium arsenite  (ISO)
sodium benzoate  (ISO)
sodium chloride  (ISO)
Sophoricoside  (ISO)
spiperone  (ISO)
streptozocin  (ISO)
sulforaphane  (ISO)
sulpiride  (ISO)
Talipexole dihydrochloride  (ISO)
tamoxifen  (ISO)
taurine  (ISO)
telmisartan  (ISO)
testosterone  (ISO)
topiramate  (ISO)
trichloroethene  (ISO)
triprolidine  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
urethane  (ISO)
valproic acid  (EXP,ISO)
vitamin D  (ISO)
vitamin E  (ISO)
vorinostat  (EXP)
WIN 55212-2  (ISO)
wortmannin  (ISO)
Y-27632  (ISO)
zearalenone  (EXP)
zinc atom  (ISO)
zinc sulfate  (ISO)
zinc(0)  (ISO)
zonisamide  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
aminergic neurotransmitter loading into synaptic vesicle  (ISO)
anatomical structure morphogenesis  (TAS)
animal organ morphogenesis  (IEA,ISS)
aromatic amino acid metabolic process  (IEA)
catecholamine biosynthetic process  (IEA,ISO)
cellular response to alkaloid  (ISO)
cellular response to glucose stimulus  (ISO)
cellular response to growth factor stimulus  (ISO)
cellular response to manganese ion  (ISO)
cellular response to nicotine  (ISO)
cellular response to xenobiotic stimulus  (ISO)
cerebral cortex development  (ISO)
circadian sleep/wake cycle  (ISO)
cognition  (IBA,ISO)
dopamine biosynthetic process  (IDA,IEA)
dopamine biosynthetic process from tyrosine  (IBA,IEA,ISO,NAS)
eating behavior  (IEA)
embryonic camera-type eye morphogenesis  (IEA,ISS)
epinephrine biosynthetic process  (IBA,IDA)
eye photoreceptor cell development  (IEA,ISS)
fatty acid metabolic process  (ISO)
heart development  (IEA,ISO,ISS)
heart morphogenesis  (NAS)
hyaloid vascular plexus regression  (IEA,ISS)
learning  (IEA,ISS)
locomotory behavior  (IEA,ISS)
mating behavior  (IBA,IEA)
memory  (IEA,ISS)
norepinephrine biosynthetic process  (IBA,IDA)
phthalate metabolic process  (ISO)
pigmentation  (TAS)
regulation of heart contraction  (IEA,ISS)
response to activity  (ISO)
response to amphetamine  (ISO)
response to corticosterone  (ISO)
response to curcumin  (ISO)
response to electrical stimulus  (ISO)
response to estradiol  (ISO)
response to ethanol  (IDA,ISO)
response to ether  (ISO)
response to growth factor  (ISO)
response to herbicide  (ISO)
response to hypoxia  (IDA,ISO)
response to immobilization stress  (ISO)
response to insecticide  (ISO)
response to isolation stress  (ISO)
response to light stimulus  (ISO)
response to lipopolysaccharide  (ISO)
response to metal ion  (ISO)
response to nicotine  (ISO)
response to nutrient levels  (ISO)
response to peptide hormone  (ISO)
response to pyrethroid  (ISO)
response to salt stress  (ISO)
response to steroid hormone  (ISO)
response to xenobiotic stimulus  (ISO)
response to zinc ion  (ISO)
serotonin biosynthetic process  (IBA)
social behavior  (ISO)
sphingolipid metabolic process  (ISO)
synaptic transmission, dopaminergic  (IBA,IEA,ISS)
visual perception  (IEA,ISS)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. The activity of some neurotransmitter-synthetizing enzymes in experimental cobalt epilepsy. Altamura AC, etal., Neurosci Lett. 1978 Jan;7(1):83-7.
2. Striatal and nigral pathology in a lentiviral rat model of Machado-Joseph disease. Alves S, etal., Hum Mol Genet. 2008 Jul 15;17(14):2071-83. Epub 2008 Apr 1.
3. Nicotine dependence in a prospective population-based study of adolescents: the protective role of a functional tyrosine hydroxylase polymorphism. Anney RJ, etal., Pharmacogenetics. 2004 Feb;14(2):73-81.
4. A human tyrosine hydroxylase isoform associated with progressive supranuclear palsy shows altered enzymatic activity. Bodeau-Pean S, etal., J Biol Chem. 1999 Feb 5;274(6):3469-75.
5. Selective losses of brainstem catecholamine neurons after hypoxia-ischemia in the immature rat pup. Buller KM, etal., Pediatr Res. 2008 Apr;63(4):364-9.
6. Activation of Different Neuronal Phenotypes in the Rat Brain Induced by Liver Ischemia-Reperfusion Injury: Dual Fos/Neuropeptide Immunohistochemistry. Bundzikova J, etal., Cell Mol Neurobiol. 2010 Nov 9.
7. Continuous DOPA synthesis from a single AAV: dosing and efficacy in models of Parkinson's disease. Cederfjäll E, etal., Sci Rep. 2013;3:2157. doi: 10.1038/srep02157.
8. Down-regulation of genes related to the adrenergic system may contribute to splanchnic vasodilation in rat portal hypertension. Coll M, etal., J Hepatol. 2008 Jul;49(1):43-51. Epub 2008 Apr 18.
9. Atrophy of mesenteric sympathetic innervation may contribute to splanchnic vasodilation in rat portal hypertension. Coll M, etal., Liver Int. 2010 Apr;30(4):593-602. Epub 2009 Nov 30.
10. Tyrosine hydroxylase Val-81-Met polymorphism associated with early-onset alcoholism. Dahmen N, etal., Psychiatr Genet. 2005 Mar;15(1):13-6.
11. Measurement of intrinsic rate constants in the tyrosine hydroxylase reaction. Eser BE and Fitzpatrick PF, Biochemistry. 2010 Jan 26;49(3):645-52.
12. Behavioral recovery in 6-hydroxydopamine-lesioned rats by cotransduction of striatum with tyrosine hydroxylase and aromatic L-amino acid decarboxylase genes using two separate adeno-associated virus vectors. Fan DS, etal., Hum Gene Ther. 1998 Nov 20;9(17):2527-35.
13. Symptom-relieving and neuroprotective effects of the phytocannabinoid D(9) -THCV in animal models of Parkinson's disease. Garcia C, etal., Br J Pharmacol. 2011 Feb 16. doi: 10.1111/j.1476-5381.2011.01278.x.
14. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
15. Association study with 33 single-nucleotide polymorphisms in 11 candidate genes for hypertension in Chinese. Gu D, etal., Hypertension. 2006 Jun;47(6):1147-54. Epub 2006 Apr 24.
16. Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia. Hoffmann GF, etal., Ann Neurol. 2003;54 Suppl 6:S56-65.
17. Effects of insulin treatment without and with recurrent hypoglycemia on hypoglycemic counterregulation and adrenal catecholamine-synthesizing enzymes in diabetic rats. Inouye KE, etal., Endocrinology. 2006 Apr;147(4):1860-70. Epub 2006 Jan 5.
18. Influences of dopaminergic lesion on epidermal growth factor-ErbB signals in Parkinson's disease and its model: neurotrophic implication in nigrostriatal neurons. Iwakura Y, etal., J Neurochem. 2005 May;93(4):974-83.
19. Paraventricular nucleus corticotrophin releasing hormone contributes to sympathoexcitation via interaction with neurotransmitters in heart failure. Kang YM, etal., Basic Res Cardiol. 2011 Feb 2.
20. Neurotransmitter Systems in a Mild Blast Traumatic Brain Injury Model: Catecholamines and Serotonin. Kawa L, etal., J Neurotrauma. 2015 Aug 15;32(16):1190-9. doi: 10.1089/neu.2014.3669. Epub 2015 Apr 1.
21. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
22. DNA polymorphisms in the tyrosine hydroxylase and GNB3 genes: association with unexpected death from acute myocardial infarction and increased heart weight. Klintschar M, etal., Forensic Sci Int. 2005 Oct 29;153(2-3):142-6. Epub 2004 Nov 6.
23. Catecholaminergic systems in stress: structural and molecular genetic approaches. Kvetnansky R, etal., Physiol Rev. 2009 Apr;89(2):535-606.
24. Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence. Li Y, etal., BMC Med Genet. 2020 Jul 31;21(1):157. doi: 10.1186/s12881-020-01092-0.
25. Histone acetylation and expression of mono-aminergic transmitters synthetases involved in CUS-induced depressive rats. Liu D, etal., Exp Biol Med (Maywood). 2014 Mar;239(3):330-6. doi: 10.1177/1535370213513987. Epub 2014 Feb 4.
26. A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome. Ludecke B, etal., Hum Genet. 1995 Jan;95(1):123-5.
27. Ovarian expression of alpha (1)- and beta (2)-adrenoceptors and p75 neurotrophin receptors in rats with steroid-induced polycystic ovaries. Manni L, etal., Auton Neurosci. 2005 Mar 31;118(1-2):79-87.
28. Dopaminergic system dysregulation in the mrsk2_KO mouse, an animal model of the Coffin-Lowry syndrome. Marques Pereira P, etal., J Neurochem. 2008 Dec;107(5):1325-34. Epub 2008 Sep 24.
29. Time course analysis of tyrosine hydroxylase and angiotensinogen mRNA expression in central nervous system of rats submitted to experimental hypertension. Maximino JR, etal., Neurosci Res. 2006 Jul;55(3):292-9. Epub 2006 May 2.
30. Chronic estradiol exposure induces oxidative stress in the hypothalamus to decrease hypothalamic dopamine and cause hyperprolactinemia. Mohankumar SM, etal., Am J Physiol Regul Integr Comp Physiol. 2011 Mar;300(3):R693-9. Epub 2010 Dec 22.
31. The effect of streptozotocin-induced diabetes on the rat seminal vesicle: A possible pathophysiological basis for disorders of ejaculation. Morrison JF, etal., Ann N Y Acad Sci. 2006 Nov;1084:267-79.
32. Decreased tyrosine hydroxylase activity in the adrenals of spontaneously hypertensive rats. Moura E, etal., Life Sci. 2005 May 6;76(25):2953-64. Epub 2005 Jan 27.
33. Activities of cerebral dihydropteridine reductase and tyrosine hydroxylase in chronic uremia in rats. Mullen BJ and Wang M, J Nutr. 1986 Jul;116(7):1298-305.
34. CRF2 mediates the increased noradrenergic activity in the hypothalamic paraventricular nucleus and the negative state of morphine withdrawal in rats. Navarro-Zaragoza J, etal., Br J Pharmacol. 2011 Feb;162(4):851-62. doi: 10.1111/j.1476-5381.2010.01090.x.
35. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
36. Effects of Glycyrrhizae Radix on Repeated Restraint Stress-induced Neurochemical and Behavioral Responses. Park HJ, etal., Korean J Physiol Pharmacol. 2010 Dec;14(6):371-6. Epub 2010 Dec 31.
37. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
38. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
39. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
40. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
41. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
42. Replication of IGF2-INS-TH*5 haplotype effect on obesity in older men and study of related phenotypes. Rodriguez S, etal., Eur J Hum Genet. 2006 Jan;14(1):109-16.
43. Traumatic brain injury reduces striatal tyrosine hydroxylase activity and potassium-evoked dopamine release in rats. Shin SS, etal., Brain Res. 2011 Jan 19;1369:208-15. Epub 2010 Nov 1.
44. Coexpression of tyrosine hydroxylase, GTP cyclohydrolase I, aromatic amino acid decarboxylase, and vesicular monoamine transporter 2 from a helper virus-free herpes simplex virus type 1 vector supports high-level, long-term biochemical and behavioral correction of a rat model of Parkinson's disease. Sun M, etal., Hum Gene Ther. 2004 Dec;15(12):1177-96.
45. Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism. Swaans RJ, etal., Ann Hum Genet. 2000 Jan;64(Pt 1):25-31.
46. Expression levels of mRNAs for catecholamine biosynthetic enzymes as markers of acute response to contusion stress during the early postmortem period. Takahashi S Tohoku J Exp Med. 2008 Nov;216(3):239-48.
47. Studies on the regulatory effect of Peony-Glycyrrhiza Decoction on prolactin hyperactivity and underlying mechanism in hyperprolactinemia rat model. Wang D, etal., Neurosci Lett. 2015 Oct 8;606:60-5. doi: 10.1016/j.neulet.2015.08.024. Epub 2015 Aug 18.
48. Protective effect of resveratrol derived from Polygonum cuspidatum and its liposomal form on nigral cells in Parkinsonian rats. Wang Y, etal., J Neurol Sci. 2011 Mar 2.
49. Cystic fibrosis transmembrane conductance regulator-associated ligand protects dopaminergic neurons by differentially regulating metabotropic glutamate receptor 5 in the progression of neurotoxin 6-hydroxydopamine-induced Parkinson's disease model. Wang Y, etal., Neurotoxicology. 2021 May;84:14-29. doi: 10.1016/j.neuro.2021.02.003. Epub 2021 Feb 8.
50. Grafting fibroblasts genetically modified to produce L-dopa in a rat model of Parkinson disease. Wolff JA, etal., Proc Natl Acad Sci U S A. 1989 Nov;86(22):9011-4.
51. Decreased RGS9 protein level in the striatum of rodents undergoing MPTP or 6-OHDA neurotoxicity. Yin LL, etal., Neurosci Lett. 2010 Aug 2;479(3):231-5. doi: 10.1016/j.neulet.2010.05.068. Epub 2010 Jun 1.
52. Abnormal expression of epilepsy-related gene ERG1/NSF in the spontaneous recurrent seizure rats with spatial learning memory deficits induced by kainic acid. Yin S, etal., Brain Res. 2005 Aug 16;1053(1-2):195-202. doi: 10.1016/j.brainres.2005.06.054.
53. Targeted disruption of the tyrosine hydroxylase gene reveals that catecholamines are required for mouse fetal development. Zhou QY, etal., Nature 1995 Apr 13;374(6523):640-3.
54. Activation of cerebral peroxisome proliferator - activated receptors gamma (PPARgamma) reduces neuronal damage in the substantia nigra after transient focal cerebral ischaemia in the rat. Zuhayra M, etal., Neuropathol Appl Neurobiol. 2011 Mar 2. doi: 10.1111/j.1365-2990.2011.01169.x.
Additional References at PubMed
PMID:33381   PMID:1347949   PMID:1680128   PMID:1973163   PMID:2872999   PMID:2874140   PMID:2882428   PMID:2887169   PMID:2888085   PMID:2892528   PMID:2892893   PMID:2896667  
PMID:2902075   PMID:2905129   PMID:6137760   PMID:6150037   PMID:7789962   PMID:7901013   PMID:8101641   PMID:8528210   PMID:8817341   PMID:8889548   PMID:9613851   PMID:9703425  
PMID:9754624   PMID:10391209   PMID:10660577   PMID:10907721   PMID:11326301   PMID:11359875   PMID:11738155   PMID:11834745   PMID:11943812   PMID:12113410   PMID:12358785   PMID:12421349  
PMID:12428766   PMID:12457228   PMID:12477932   PMID:12493595   PMID:12527603   PMID:12571119   PMID:12576454   PMID:12610512   PMID:12631248   PMID:12759555   PMID:12782971   PMID:12952878  
PMID:14570886   PMID:14651963   PMID:14651989   PMID:14675149   PMID:14739699   PMID:14749349   PMID:15135070   PMID:15303408   PMID:15468323   PMID:15476168   PMID:15735319   PMID:15736042  
PMID:15744773   PMID:15898085   PMID:15953356   PMID:16252282   PMID:16338639   PMID:16344718   PMID:16360899   PMID:16445854   PMID:16447258   PMID:16516890   PMID:16643317   PMID:16644734  
PMID:16731528   PMID:16741719   PMID:16764822   PMID:16887311   PMID:17018139   PMID:17135716   PMID:17194738   PMID:17195153   PMID:17329957   PMID:17391063   PMID:17466074   PMID:17520326  
PMID:17698383   PMID:17698732   PMID:17784840   PMID:17869399   PMID:17926059   PMID:17948905   PMID:17972051   PMID:17985144   PMID:17988588   PMID:18023073   PMID:18058633   PMID:18085551  
PMID:18181650   PMID:18208403   PMID:18270970   PMID:18343820   PMID:18534229   PMID:18554280   PMID:18574609   PMID:18583979   PMID:18814238   PMID:18979915   PMID:19120120   PMID:19125082  
PMID:19156168   PMID:19189602   PMID:19221445   PMID:19224593   PMID:19285077   PMID:19352218   PMID:19360691   PMID:19367319   PMID:19448984   PMID:19491146   PMID:19491717   PMID:19604093  
PMID:19674121   PMID:19693267   PMID:19703902   PMID:19761814   PMID:19767753   PMID:19772578   PMID:19801645   PMID:19815691   PMID:19833152   PMID:19874574   PMID:19913121   PMID:19958792  
PMID:20046397   PMID:20056467   PMID:20067853   PMID:20124442   PMID:20132525   PMID:20146650   PMID:20163778   PMID:20198643   PMID:20301334   PMID:20301610   PMID:20468064   PMID:20564319  
PMID:20571875   PMID:20602615   PMID:20628086   PMID:20646572   PMID:20675101   PMID:20706199   PMID:20734064   PMID:20809526   PMID:20818075   PMID:20838244   PMID:20938049   PMID:21083670  
PMID:21087208   PMID:21158937   PMID:21265843   PMID:21368136   PMID:21392500   PMID:21407269   PMID:21656370   PMID:21815951   PMID:21873635   PMID:22001923   PMID:22002062   PMID:22066143  
PMID:22083667   PMID:22272358   PMID:22292987   PMID:22336227   PMID:22539306   PMID:22583432   PMID:22691284   PMID:22815559   PMID:23182718   PMID:23444366   PMID:23481708   PMID:23489065  
PMID:23647419   PMID:23762320   PMID:23936387   PMID:23977047   PMID:24055376   PMID:24166412   PMID:24168553   PMID:24275212   PMID:24301786   PMID:24334288   PMID:24417771   PMID:24740154  
PMID:24891139   PMID:24947669   PMID:24975687   PMID:25102180   PMID:25418103   PMID:25462571   PMID:26220941   PMID:26276013   PMID:26386900   PMID:26447226   PMID:26498952   PMID:26647061  
PMID:26732803   PMID:26825549   PMID:27016413   PMID:27034145   PMID:27044752   PMID:27185167   PMID:27245436   PMID:27448941   PMID:27619486   PMID:27666733   PMID:28287127   PMID:28514442  
PMID:28637871   PMID:29404959   PMID:29405179   PMID:29603574   PMID:29724574   PMID:30121937   PMID:30361782   PMID:31053723   PMID:31297896   PMID:32154672   PMID:32232669   PMID:32235678  
PMID:32296183   PMID:32697044   PMID:32777141   PMID:32872068   PMID:33309753   PMID:33961781   PMID:34031189   PMID:34743284   PMID:34894394   PMID:34922205   PMID:35013193   PMID:35258801  
PMID:36115503   PMID:37011980   PMID:37624484   PMID:37788672   PMID:37840187   PMID:38084654   PMID:40437099  


Genomics

Comparative Map Data
TH
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38112,163,929 - 2,171,815 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl112,163,929 - 2,171,968 (-)Ensemblhg38GRCh38
GRCh37112,185,159 - 2,193,045 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36112,141,735 - 2,149,611 (-)NCBIBuild 36Build 36hg18NCBI36
Build 34112,141,735 - 2,149,605NCBI
Celera112,221,752 - 2,229,624 (-)NCBICelera
Cytogenetic Map11p15.5NCBI
HuRef111,975,424 - 1,983,299 (-)NCBIHuRef
CHM1_1112,183,941 - 2,191,817 (-)NCBICHM1_1
T2T-CHM13v2.0112,253,295 - 2,261,192 (-)NCBIT2T-CHM13v2.0
Th
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397142,446,516 - 142,453,732 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7142,446,489 - 142,484,865 (-)EnsemblGRCm39 EnsemblGRCm39
GRCm387142,892,779 - 142,899,995 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7142,892,752 - 142,931,128 (-)Ensemblmm10GRCm38
MGSCv377150,078,681 - 150,085,871 (-)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv367142,702,166 - 142,709,356 (-)NCBIMGSCv36mm8
Celera7142,648,392 - 142,655,582 (-)NCBICelera
Cytogenetic Map7F5NCBI
cM Map788.06NCBI
Th
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81207,500,959 - 207,508,276 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl1207,500,962 - 207,557,227 (-)EnsemblGRCr8
mRatBN7.21198,071,500 - 198,078,832 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1198,071,503 - 198,109,767 (-)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx1206,450,387 - 206,457,507 (-)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01213,537,252 - 213,544,373 (-)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01206,211,403 - 206,218,524 (-)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.01216,073,034 - 216,080,287 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1216,073,031 - 216,080,287 (-)Ensemblrn6Rnor6.0
Rnor_5.01222,935,462 - 222,942,715 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.41203,164,253 - 203,171,506 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera1195,642,057 - 195,649,203 (-)NCBICelera
RGSC_v3.11203,317,712 - 203,324,972 (-)NCBI
RH 2.0 Map11080.1RGD
Cytogenetic Map1q41NCBI
Th
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542213,943,552 - 13,951,137 (-)Ensembl
ChiLan1.0NW_00495542213,943,590 - 13,951,102 (-)NCBIChiLan1.0ChiLan1.0
TH
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v294,590,095 - 4,597,992 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1113,801,867 - 3,809,764 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0112,204,820 - 2,212,750 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1112,234,095 - 2,242,030 (-)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl112,231,248 - 2,242,433 (-)EnsemblpanPan2panpan1.1
TH
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11846,327,136 - 46,334,973 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1846,327,137 - 46,335,602 (-)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha1844,936,923 - 44,944,750 (-)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.01847,006,609 - 47,014,412 (-)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1847,006,611 - 47,014,441 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11846,455,359 - 46,462,897 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01846,035,687 - 46,043,215 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01846,782,129 - 46,789,967 (-)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Th
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049472,535,447 - 2,543,939 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936794478,614 - 487,061 (-)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_004936794478,651 - 486,887 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TH
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl21,499,620 - 1,506,170 (-)EnsemblsusScr11Sscrofa11.1
Sscrofa11.121,499,628 - 1,506,180 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
TH
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.111,969,194 - 1,977,263 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl11,966,460 - 1,977,218 (-)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366603899,163,059 - 99,174,711 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Th
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476715,003,092 - 15,010,154 (-)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_00462476715,003,073 - 15,010,207 (-)NCBIHetGla 1.0HetGla 1.0hetGla2
Th
(Rattus rattus - black rat)
Black Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rrattus_CSIRO_v11142,498,594 - 42,505,727 (-)NCBIRrattus_CSIRO_v1

Variants

.
Variants in TH
1137 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000360.4(TH):c.91-853C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000552368]|Inborn genetic diseases [RCV004669026] Chr11:2170724 [GRCh38]
Chr11:2191954 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.153G>A (p.Ala51=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001424173] Chr11:2169809 [GRCh38]
Chr11:2191039 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.241G>A (p.Val81Met) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000021078]|Schizophrenia [RCV003633482]|not provided [RCV000710270]|not specified [RCV000241867] Chr11:2169721 [GRCh38]
Chr11:2169721..2169722 [GRCh38]
Chr11:2190951 [GRCh37]
Chr11:2190951..2190952 [GRCh37]
Chr11:11p15.5		 benign|likely benign
NM_000360.4(TH):c.110G>A (p.Arg37His) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001198753]|not provided [RCV004722870] Chr11:2169852 [GRCh38]
Chr11:2191082 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.901G>A (p.Ala301Thr) single nucleotide variant not specified [RCV000516963] Chr11:2166709 [GRCh38]
Chr11:2187939 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1141C>A (p.Gln381Lys) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000013117] Chr11:2165727 [GRCh38]
Chr11:2186957 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic
NM_000360.4(TH):c.614T>C (p.Leu205Pro) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000013118]|not provided [RCV002274896] Chr11:2167896 [GRCh38]
Chr11:2189126 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000360.4(TH):c.1388C>T (p.Thr463Met) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000013119]|Inborn genetic diseases [RCV000622283] Chr11:2164339 [GRCh38]
Chr11:2185569 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic|uncertain significance
NM_000360.4(TH):c.605G>A (p.Arg202His) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000013120]|not provided [RCV000724645] Chr11:2167905 [GRCh38]
Chr11:2189135 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_000360.4(TH):c.917G>A (p.Arg306His) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000013121] Chr11:2166693 [GRCh38]
Chr11:2187923 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000360.4(TH):c.733A>C (p.Thr245Pro) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000013122]|not specified [RCV005055512] Chr11:2166995 [GRCh38]
Chr11:2188225 [GRCh37]
Chr11:11p15.5		 pathogenic|uncertain significance
NM_000360.4(TH):c.848C>T (p.Thr283Met) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000013123] Chr11:2166762 [GRCh38]
Chr11:2187992 [GRCh37]
Chr11:11p15.5		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000360.4(TH):c.1105-24T>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000013124] Chr11:2165787 [GRCh38]
Chr11:2187017 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_000360.4(TH):c.202del (p.Leu68fs) deletion Autosomal recessive DOPA responsive dystonia [RCV000013125] Chr11:2169760 [GRCh38]
Chr11:2190990 [GRCh37]
Chr11:11p15.5		 pathogenic
TH, -70G-A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000013126] Chr11:11p15.5 pathogenic
NM_000360.4(TH):c.983G>T (p.Cys328Phe) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000013127] Chr11:2166544 [GRCh38]
Chr11:2187774 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic
NM_000360.4(TH):c.12C>A (p.Pro4=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001277080] Chr11:2171775 [GRCh38]
Chr11:2193005 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_000360.4(TH):c.1255G>A (p.Val419Met) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000709868]|TH-related disorder [RCV003935376]|not provided [RCV000516869] Chr11:2165311 [GRCh38]
Chr11:2186541 [GRCh37]
Chr11:11p15.5		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3 copy number gain See cases [RCV000050947] Chr11:196966..3377077 [GRCh38]
Chr11:196966..3398307 [GRCh37]
Chr11:186966..3354883 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3 copy number gain See cases [RCV000050927] Chr11:196966..4435344 [GRCh38]
Chr11:196966..4456574 [GRCh37]
Chr11:186966..4413150 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3 copy number gain See cases [RCV000053614] Chr11:218365..3377077 [GRCh38]
Chr11:218365..3398307 [GRCh37]
Chr11:208365..3354883 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196966-3624139)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053592]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053592]|See cases [RCV000053592] Chr11:196966..3624139 [GRCh38]
Chr11:196966..3645369 [GRCh37]
Chr11:186966..3601945 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 copy number gain See cases [RCV000053613] Chr11:202758..31726224 [GRCh38]
Chr11:202758..31747772 [GRCh37]
Chr11:192758..31704348 [NCBI36]
Chr11:11p15.5-13		 pathogenic
NM_199292.2(TH):c.185C>T (p.Ser62Phe) single nucleotide variant Malignant melanoma [RCV000069294] Chr11:2169870 [GRCh38]
Chr11:2191100 [GRCh37]
Chr11:2147676 [NCBI36]
Chr11:11p15.5		 not provided
NM_000207.2(INS):c.132G>A (p.Gly44=) single nucleotide variant Malignant melanoma [RCV000069293] Chr11:2160840 [GRCh38]
Chr11:2182070 [GRCh37]
Chr11:2138646 [NCBI36]
Chr11:11p15.5		 not provided
NM_000360.4(TH):c.283del (p.Ala95fs) deletion Autosomal recessive DOPA responsive dystonia [RCV000190632] Chr11:2169679 [GRCh38]
Chr11:2190909 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_000360.4(TH):c.347G>C (p.Arg116Pro) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003104253] Chr11:2168631 [GRCh38]
Chr11:2189861 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 copy number gain See cases [RCV000133997] Chr11:446754..18904742 [GRCh38]
Chr11:446754..18926289 [GRCh37]
Chr11:436754..18882865 [NCBI36]
Chr11:11p15.5-15.1		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:1975511-2888695)x3 copy number gain See cases [RCV000136112] Chr11:1975511..2888695 [GRCh38]
Chr11:1996741..2909925 [GRCh37]
Chr11:1953317..2866501 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:1537379-3360769)x3 copy number gain See cases [RCV000136847] Chr11:1537379..3360769 [GRCh38]
Chr11:1558609..3381999 [GRCh37]
Chr11:1515185..3338575 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:1975511-3624139)x1 copy number loss See cases [RCV000137066] Chr11:1975511..3624139 [GRCh38]
Chr11:1996741..3645369 [GRCh37]
Chr11:1953317..3601945 [NCBI36]
Chr11:11p15.5-15.4		 uncertain significance
GRCh38/hg38 11p15.5(chr11:2149352-2467542)x3 copy number gain See cases [RCV000137405] Chr11:2149352..2467542 [GRCh38]
Chr11:2170582..2488772 [GRCh37]
Chr11:2127158..2445348 [NCBI36]
Chr11:11p15.5		 uncertain significance
GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3 copy number gain See cases [RCV000139987] Chr11:61793..10727969 [GRCh38]
Chr11:61793..10749516 [GRCh37]
Chr11:51793..10706092 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:1132899-3213923)x1 copy number loss See cases [RCV000142464] Chr11:1132899..3213923 [GRCh38]
Chr11:1126807..3235153 [GRCh37]
Chr11:1116807..3191729 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3 copy number gain See cases [RCV000142890] Chr11:196855..5321874 [GRCh38]
Chr11:196855..5343104 [GRCh37]
Chr11:186855..5299680 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5(chr11:2106943-2565669)x3 copy number gain See cases [RCV000143587] Chr11:2106943..2565669 [GRCh38]
Chr11:2128173..2586899 [GRCh37]
Chr11:2084749..2543475 [NCBI36]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1282C>T (p.Gln428Ter) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000169247] Chr11:2165284 [GRCh38]
Chr11:2186514 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic
NM_000360.4(TH):c.748G>C (p.Glu250Gln) single nucleotide variant not provided [RCV000180392] Chr11:2166980 [GRCh38]
Chr11:2188210 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3 copy number gain See cases [RCV000446036] Chr11:193187..5291338 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_000360.4(TH):c.749A>T (p.Glu250Val) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000666892] Chr11:2166979 [GRCh38]
Chr11:2188209 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.16G>A (p.Ala6Thr) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000609157]|TH-related disorder [RCV003919990]|not provided [RCV000488317]|not specified [RCV001844099] Chr11:2171771 [GRCh38]
Chr11:2193001 [GRCh37]
Chr11:11p15.5		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000360.4(TH):c.487+3G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001106435]|TH-related disorder [RCV003919991]|not provided [RCV000839680]|not specified [RCV000517798] Chr11:2168488 [GRCh38]
Chr11:2189718 [GRCh37]
Chr11:11p15.5		 benign|uncertain significance
NM_000360.4(TH):c.684G>A (p.Glu228=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000339212]|not provided [RCV001532622]|not specified [RCV000362807] Chr11:2167446 [GRCh38]
Chr11:2188676 [GRCh37]
Chr11:11p15.5		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000360.4(TH):c.729C>T (p.Tyr243=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000227660]|not provided [RCV001310943] Chr11:2166999 [GRCh38]
Chr11:2188229 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.264G>A (p.Pro88=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000226006] Chr11:2169698 [GRCh38]
Chr11:2190928 [GRCh37]
Chr11:11p15.5		 benign
NM_000360.4(TH):c.1301C>G (p.Ser434Cys) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000670046] Chr11:2165265 [GRCh38]
Chr11:2186495 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.91-818G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000670214] Chr11:2170689 [GRCh38]
Chr11:2191919 [GRCh37]
Chr11:11p15.5		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000360.4(TH):c.644+2T>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000669515] Chr11:2167864 [GRCh38]
Chr11:2189094 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.12_43del (p.Asp5fs) deletion Autosomal recessive DOPA responsive dystonia [RCV000669954] Chr11:2171744..2171775 [GRCh38]
Chr11:2192974..2193005 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.1200+9C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000625349]|Generalized dystonia [RCV002251450]|Maturity onset diabetes mellitus in young [RCV000289760]|Transient Neonatal Diabetes, Dominant/Recessive [RCV000325988]|not provided [RCV001795468]|not specified [RCV000253406] Chr11:2165659 [GRCh38]
Chr11:2186889 [GRCh37]
Chr11:11p15.5		 benign|likely benign|uncertain significance
NM_000360.4(TH):c.267G>A (p.Arg89=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000311361]|not provided [RCV000829331]|not specified [RCV000246453] Chr11:2169695 [GRCh38]
Chr11:2190925 [GRCh37]
Chr11:11p15.5		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000360.4(TH):c.313-38_313-35del deletion not provided [RCV001636842]|not specified [RCV000249789] Chr11:2168700..2168703 [GRCh38]
Chr11:2189930..2189933 [GRCh37]
Chr11:11p15.5		 benign|likely benign
NM_000360.4(TH):c.210T>C (p.Ala70=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000353443]|not provided [RCV000713850]|not specified [RCV000249899] Chr11:2169752 [GRCh38]
Chr11:2190982 [GRCh37]
Chr11:11p15.5		 benign|likely benign
NM_000360.4(TH):c.720G>A (p.Lys240=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000287153]|not provided [RCV000710271]|not specified [RCV000252592] Chr11:2167008 [GRCh38]
Chr11:2188238 [GRCh37]
Chr11:11p15.5		 benign
NM_000360.4(TH):c.342G>A (p.Glu114=) single nucleotide variant not provided [RCV000728318]|not specified [RCV000242988] Chr11:2168636 [GRCh38]
Chr11:2189866 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_000360.4(TH):c.186G>A (p.Ser62=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000260953]|not provided [RCV000713849]|not specified [RCV000245352] Chr11:2169776 [GRCh38]
Chr11:2191006 [GRCh37]
Chr11:11p15.5		 benign|likely benign
NM_000360.4(TH):c.577-22C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001537993]|not provided [RCV001651293]|not specified [RCV000247956] Chr11:2167955 [GRCh38]
Chr11:2189185 [GRCh37]
Chr11:11p15.5		 benign
NM_000360.4(TH):c.977+8C>G single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000278788]|not provided [RCV000710269]|not specified [RCV000250457] Chr11:2166625 [GRCh38]
Chr11:2187855 [GRCh37]
Chr11:11p15.5		 benign
NM_000360.4(TH):c.360G>A (p.Arg120=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000369224] Chr11:2168618 [GRCh38]
Chr11:2189848 [GRCh37]
Chr11:11p15.5		 conflicting interpretations of pathogenicity|uncertain significance
NM_000360.4(TH):c.5C>T (p.Pro2Leu) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000284550]|not provided [RCV003221899] Chr11:2171782 [GRCh38]
Chr11:2193012 [GRCh37]
Chr11:11p15.5		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000360.4(TH):c.676G>A (p.Ala226Thr) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000400092]|not provided [RCV005055856] Chr11:2167454 [GRCh38]
Chr11:2188684 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.363G>A (p.Pro121=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000307422]|not provided [RCV004584665] Chr11:2168615 [GRCh38]
Chr11:2189845 [GRCh37]
Chr11:11p15.5		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000360.4(TH):c.-18G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000327849] Chr11:2171804 [GRCh38]
Chr11:2193034 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.627C>G (p.Ile209Met) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000289936]|TH-related disorder [RCV003930285]|not provided [RCV000861197] Chr11:2167883 [GRCh38]
Chr11:2189113 [GRCh37]
Chr11:11p15.5		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000360.4(TH):c.841+12C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000379159] Chr11:2166875 [GRCh38]
Chr11:2188105 [GRCh37]
Chr11:11p15.5		 conflicting interpretations of pathogenicity|uncertain significance
NM_000360.4(TH):c.1105-5C>G single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000275122] Chr11:2165768 [GRCh38]
Chr11:2186998 [GRCh37]
Chr11:11p15.5		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000360.4(TH):c.252G>A (p.Leu84=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000261914]|TH-related disorder [RCV003940150] Chr11:2169710 [GRCh38]
Chr11:2190940 [GRCh37]
Chr11:11p15.5		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000360.4(TH):c.1368C>T (p.Ser456=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000276721]|not provided [RCV001729518] Chr11:2164359 [GRCh38]
Chr11:2185589 [GRCh37]
Chr11:11p15.5		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000360.4(TH):c.1400A>G (p.Asp467Gly) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000364341]|not provided [RCV005401417] Chr11:2164327 [GRCh38]
Chr11:2185557 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000360.4(TH):c.897C>T (p.Phe299=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000317556]|not provided [RCV003326402] Chr11:2166713 [GRCh38]
Chr11:2187943 [GRCh37]
Chr11:11p15.5		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000360.4(TH):c.*52C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000365496] Chr11:2164181 [GRCh38]
Chr11:2185411 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1170C>G (p.Ala390=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000367406]|not provided [RCV000630735] Chr11:2165698 [GRCh38]
Chr11:2186928 [GRCh37]
Chr11:11p15.5		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000360.4(TH):c.1470C>G (p.Ala490=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000392720] Chr11:2164257 [GRCh38]
Chr11:2185487 [GRCh37]
Chr11:11p15.5		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000360.4(TH):c.313-9C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000393084] Chr11:2168674 [GRCh38]
Chr11:2189904 [GRCh37]
Chr11:11p15.5		 benign|uncertain significance
NM_000360.4(TH):c.263C>T (p.Pro88Leu) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000368415]|not provided [RCV003441835] Chr11:2169699 [GRCh38]
Chr11:2190929 [GRCh37]
Chr11:11p15.5		 conflicting interpretations of pathogenicity|uncertain significance
NM_000360.4(TH):c.406G>A (p.Val136Met) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000347269]|not provided [RCV001528247] Chr11:2168572 [GRCh38]
Chr11:2189802 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1035G>T (p.Ala345=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000375542]|not provided [RCV001709582]|not specified [RCV000518607] Chr11:2166492 [GRCh38]
Chr11:2187722 [GRCh37]
Chr11:11p15.5		 benign|likely benign
NM_000360.4(TH):c.398G>A (p.Arg133His) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000401042]|not provided [RCV000487959] Chr11:2168580 [GRCh38]
Chr11:2189810 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.645C>T (p.His215=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002518943]|Inborn genetic diseases [RCV004678661]|not provided [RCV000354392] Chr11:2167485 [GRCh38]
Chr11:2188715 [GRCh37]
Chr11:11p15.5		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000360.4(TH):c.44G>A (p.Arg15His) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000380023]|not provided [RCV001770240] Chr11:2171743 [GRCh38]
Chr11:2192973 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1073C>G (p.Ala358Gly) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001277924] Chr11:2166033 [GRCh38]
Chr11:2187263 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.120C>T (p.Ser40=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001277935] Chr11:2169842 [GRCh38]
Chr11:2191072 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_000360.4(TH):c.98G>A (p.Arg33Gln) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002530832]|Inborn genetic diseases [RCV004965588]|not provided [RCV000585047] Chr11:2169864 [GRCh38]
Chr11:2191094 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1361C>A (p.Pro454His) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001834591]|not provided [RCV000489320] Chr11:2164366 [GRCh38]
Chr11:2185596 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.585G>C (p.Ser195=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002525987]|not provided [RCV000487782] Chr11:2167925 [GRCh38]
Chr11:2189155 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_000360.4(TH):c.362C>T (p.Pro121Leu) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001273885]|not provided [RCV000489831] Chr11:2168616 [GRCh38]
Chr11:2189846 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_000360.4(TH):c.599G>A (p.Arg200His) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001105303]|not provided [RCV000488314] Chr11:2167911 [GRCh38]
Chr11:2189141 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.*109G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000303781] Chr11:2164124 [GRCh38]
Chr11:2185354 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000207.3(INS):c.*22A>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000346143]|Diabetes mellitus type 1 [RCV003388579]|Diabetes mellitus, permanent neonatal 4 [RCV001544277]|Hyperproinsulinemia [RCV001544278]|Maturity onset diabetes mellitus in young [RCV000320451]|Maturity-onset diabetes of the young type 10 [RCV001103213]|Transient Neonatal Diabetes, Dominant/Recessive [RCV000384319]|Type 1 diabetes mellitus 2 [RCV001544276]|not provided [RCV001712011] Chr11:2159830 [GRCh38]
Chr11:2181060 [GRCh37]
Chr11:11p15.5		 benign|uncertain significance
NM_000360.4(TH):c.1278G>A (p.Thr426=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000334193]|Maturity onset diabetes mellitus in young [RCV000334223]|Neonatal insulin-dependent diabetes mellitus [RCV002464169]|Transient Neonatal Diabetes, Dominant/Recessive [RCV000388765]|not provided [RCV000475352]|not specified [RCV004999273] Chr11:2165288 [GRCh38]
Chr11:2186518 [GRCh37]
Chr11:11p15.5		 benign|likely benign
NM_000360.4(TH):c.1069G>A (p.Gly357Arg) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000318647]|not provided [RCV000994544] Chr11:2166037 [GRCh38]
Chr11:2187267 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000207.3(INS):c.-18+4_-18+5insTTGC insertion Autosomal recessive DOPA responsive dystonia [RCV000353899]|Maturity onset diabetes mellitus in young [RCV000337866]|Maturity-onset diabetes of the young type 10 [RCV003463781]|Transient Neonatal Diabetes, Dominant/Recessive [RCV000401881]|not provided [RCV001660593] Chr11:2161163..2161164 [GRCh38]
Chr11:2182393..2182394 [GRCh37]
Chr11:11p15.5		 benign|likely benign|uncertain significance
NM_000360.4(TH):c.364C>T (p.Arg122Ter) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000671827]|not provided [RCV000521520] Chr11:2168614 [GRCh38]
Chr11:2189844 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic
NM_000207.3(INS):c.187+11T>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000301754]|Maturity onset diabetes mellitus in young [RCV000298547]|Maturity-onset diabetes of the young type 10 [RCV001106254]|Transient Neonatal Diabetes, Dominant/Recessive [RCV000390933]|Type 1 diabetes mellitus 2 [RCV002500856]|Type 2 diabetes mellitus [RCV002221216]|not provided [RCV001515509]|not specified [RCV000244371] Chr11:2160774 [GRCh38]
Chr11:2182004 [GRCh37]
Chr11:11p15.5		 benign|likely benign
NM_000207.3(INS):c.*9C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000402726]|Hypoinsulinemia [RCV002221215]|Maturity onset diabetes mellitus in young [RCV000344882]|Maturity-onset diabetes of the young type 10 [RCV001103214]|Transient Neonatal Diabetes, Dominant/Recessive [RCV000289877]|not provided [RCV001651115]|not specified [RCV000249051] Chr11:2159843 [GRCh38]
Chr11:2181073 [GRCh37]
Chr11:11p15.5		 association|benign|likely benign
NM_000360.4(TH):c.598C>T (p.Arg200Cys) single nucleotide variant not provided [RCV000585622] Chr11:2167912 [GRCh38]
Chr11:2189142 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.*277G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000393658]|Maturity onset diabetes mellitus in young [RCV000318900]|Neonatal insulin-dependent diabetes mellitus [RCV002464168]|Transient Neonatal Diabetes, Dominant/Recessive [RCV000263719]|not provided [RCV001544723] Chr11:2163956 [GRCh38]
Chr11:2185186 [GRCh37]
Chr11:11p15.5		 benign|likely benign|uncertain significance
NM_000360.4(TH):c.115C>G (p.Gln39Glu) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000323008] Chr11:2169847 [GRCh38]
Chr11:2191077 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000207.3(INS):c.36G>A (p.Ala12=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000361123]|Maturity onset diabetes mellitus in young [RCV000383778]|Maturity-onset diabetes of the young type 10 [RCV001108483]|Neonatal insulin-dependent diabetes mellitus [RCV002221524]|Transient Neonatal Diabetes, Dominant/Recessive [RCV000270633]|Type 1 diabetes mellitus 2 [RCV002494953]|not provided [RCV000973456] Chr11:2160936 [GRCh38]
Chr11:2182166 [GRCh37]
Chr11:11p15.5		 benign|likely benign|uncertain significance
NM_000360.4(TH):c.1401C>T (p.Asp467=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000307379]|Maturity onset diabetes mellitus in young [RCV000274394]|Transient Neonatal Diabetes, Dominant/Recessive [RCV000387514]|not provided [RCV000713848] Chr11:2164326 [GRCh38]
Chr11:2185556 [GRCh37]
Chr11:11p15.5		 benign|likely benign
NM_000207.3(INS):c.-17-6T>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000299006]|Maturity onset diabetes mellitus in young [RCV000386638]|Maturity-onset diabetes of the young type 10 [RCV001103302]|Transient Neonatal Diabetes, Dominant/Recessive [RCV000280575]|not provided [RCV000711996] Chr11:2160994 [GRCh38]
Chr11:2182224 [GRCh37]
Chr11:11p15.5		 benign
NM_000207.3(INS):c.-9C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000266479]|Diabetes mellitus, permanent neonatal 4 [RCV003445086]|Maturity onset diabetes mellitus in young [RCV000295949]|Maturity-onset diabetes of the young type 10 [RCV001103301]|Neonatal diabetes mellitus [RCV000030068]|Transient Neonatal Diabetes, Dominant/Recessive [RCV000348477]|not provided [RCV001582500]|not specified [RCV000253792] Chr11:2160980 [GRCh38]
Chr11:2182210 [GRCh37]
Chr11:11p15.5		 benign|likely benign
NM_000360.4(TH):c.717del (p.Lys240fs) deletion Autosomal recessive DOPA responsive dystonia [RCV000409078] Chr11:2167011 [GRCh38]
Chr11:2188241 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.487+2T>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000409354] Chr11:2168489 [GRCh38]
Chr11:2189719 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.12dup (p.Asp5fs) duplication Autosomal recessive DOPA responsive dystonia [RCV000410048] Chr11:2171774..2171775 [GRCh38]
Chr11:2193004..2193005 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic
NM_000360.4(TH):c.1104+1G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000410415] Chr11:2166001 [GRCh38]
Chr11:2187231 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.292C>T (p.Arg98Ter) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000672619]|not provided [RCV000415910] Chr11:2169670 [GRCh38]
Chr11:2190900 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic
NM_000360.4(TH):c.977+1G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000410635] Chr11:2166632 [GRCh38]
Chr11:2187862 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.288G>C (p.Leu96=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001277078]|not provided [RCV000416035] Chr11:2169674 [GRCh38]
Chr11:2190904 [GRCh37]
Chr11:11p15.5		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000360.4(TH):c.12C>T (p.Pro4=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001105393]|not provided [RCV000416223] Chr11:2171775 [GRCh38]
Chr11:2193005 [GRCh37]
Chr11:11p15.5		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000360.4(TH):c.653C>T (p.Pro218Leu) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001833508]|not provided [RCV000416269]|not specified [RCV000518710] Chr11:2167477 [GRCh38]
Chr11:2188707 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.997del (p.Leu333fs) deletion Autosomal recessive DOPA responsive dystonia [RCV000411713] Chr11:2166530 [GRCh38]
Chr11:2187760 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.601C>T (p.Gln201Ter) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000411945] Chr11:2167909 [GRCh38]
Chr11:2189139 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_000360.4(TH):c.921del (p.Phe308fs) deletion Autosomal recessive DOPA responsive dystonia [RCV000412367] Chr11:2166689 [GRCh38]
Chr11:2187919 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.91-9_107del deletion Autosomal recessive DOPA responsive dystonia [RCV000409032] Chr11:2169855..2169880 [GRCh38]
Chr11:2191085..2191110 [GRCh37]
Chr11:11p15.5		 likely pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-6644927)x3 copy number gain See cases [RCV000449417] Chr11:230615..6644927 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_000360.4(TH):c.1103C>T (p.Thr368Met) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001782901]|not provided [RCV000433260] Chr11:2166003 [GRCh38]
Chr11:2187233 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic
NM_000360.4(TH):c.799G>C (p.Asp267His) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001271313]|not provided [RCV000422915] Chr11:2166929 [GRCh38]
Chr11:2188159 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.662G>T (p.Arg221Leu) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001340712] Chr11:2167468 [GRCh38]
Chr11:2188698 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.579C>T (p.Gly193=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001106433]|TH-related disorder [RCV003960115]|not provided [RCV000470883] Chr11:2167931 [GRCh38]
Chr11:2189161 [GRCh37]
Chr11:11p15.5		 benign|likely benign
NM_000360.4(TH):c.193G>A (p.Gly65Arg) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001828485] Chr11:2169769 [GRCh38]
Chr11:2190999 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1402G>A (p.Val468Met) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001106345]|Inborn genetic diseases [RCV000622901] Chr11:2164325 [GRCh38]
Chr11:2185555 [GRCh37]
Chr11:11p15.5		 conflicting interpretations of pathogenicity|uncertain significance
NM_000360.4(TH):c.656T>C (p.Ile219Thr) single nucleotide variant not provided [RCV000478105] Chr11:2167474 [GRCh38]
Chr11:2188704 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.19A>C (p.Thr7Pro) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001273892] Chr11:2171768 [GRCh38]
Chr11:2192998 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.978-10C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000476874] Chr11:2166559 [GRCh38]
Chr11:2187789 [GRCh37]
Chr11:11p15.5		 likely benign
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 copy number gain See cases [RCV000511561] Chr11:230615..37698540 [GRCh37]
Chr11:11p15.5-12		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_000360.4(TH):c.91-901A>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000670224] Chr11:2170772 [GRCh38]
Chr11:2192002 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.10:g.2171856C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001390236]|not provided [RCV002060712] Chr11:2171856 [GRCh38]
Chr11:2193086 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic
NM_000360.4(TH):c.312+289G>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001514473]|not provided [RCV001644715] Chr11:2169361 [GRCh38]
Chr11:2169361..2169362 [GRCh38]
Chr11:2190591 [GRCh37]
Chr11:2190591..2190592 [GRCh37]
Chr11:11p15.5		 benign
NM_000360.4(TH):c.452T>C (p.Val151Ala) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000764964]|Inborn genetic diseases [RCV003343960]|not provided [RCV001766340] Chr11:2168526 [GRCh38]
Chr11:2189756 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.414A>C (p.Arg138=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001471915] Chr11:2168564 [GRCh38]
Chr11:2189794 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1229G>A (p.Arg410Gln) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001835006]|not provided [RCV001771849] Chr11:2165337 [GRCh38]
Chr11:2186567 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.13G>A (p.Asp5Asn) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001273893] Chr11:2171774 [GRCh38]
Chr11:2193004 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.842-6T>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001450224] Chr11:2166774 [GRCh38]
Chr11:2188004 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.168G>A (p.Ala56=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000559937] Chr11:2169794 [GRCh38]
Chr11:2191024 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.549C>T (p.Phe183=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000630720] Chr11:2168118 [GRCh38]
Chr11:2189348 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.2T>C (p.Met1Thr) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000672231] Chr11:2171785 [GRCh38]
Chr11:2193015 [GRCh37]
Chr11:11p15.5		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000360.4(TH):c.1052T>C (p.Ile351Thr) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000668836] Chr11:2166054 [GRCh38]
Chr11:2187284 [GRCh37]
Chr11:11p15.5		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 copy number gain See cases [RCV000512225] Chr11:230615..25584362 [GRCh37]
Chr11:11p15.5-14.3		 pathogenic
NM_000360.4(TH):c.550G>A (p.Asp184Asn) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001106434]|Inborn genetic diseases [RCV004024722]|not provided [RCV000594662] Chr11:2168117 [GRCh38]
Chr11:2189347 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.67G>A (p.Ala23Thr) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001103470]|not provided [RCV000513281] Chr11:2171720 [GRCh38]
Chr11:2192950 [GRCh37]
Chr11:11p15.5		 conflicting interpretations of pathogenicity|uncertain significance
NM_000360.4(TH):c.672C>G (p.Tyr224Ter) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001860448]|Inborn genetic diseases [RCV000623873] Chr11:2167458 [GRCh38]
Chr11:2188688 [GRCh37]
Chr11:11p15.5		 pathogenic
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 copy number gain See cases [RCV000512477] Chr11:230615..31995219 [GRCh37]
Chr11:11p15.5-13		 pathogenic
NM_000360.4(TH):c.848C>G (p.Thr283Arg) single nucleotide variant Inborn genetic diseases [RCV000623066] Chr11:2166762 [GRCh38]
Chr11:2187992 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.562G>C (p.Asp188His) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001829775]|Inborn genetic diseases [RCV002528841] Chr11:2168105 [GRCh38]
Chr11:2189335 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5(chr11:1690968-2277648)x3 copy number gain See cases [RCV000512345] Chr11:1690968..2277648 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.644+1G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000673119] Chr11:2167865 [GRCh38]
Chr11:2189095 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.91-900G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000672472] Chr11:2170771 [GRCh38]
Chr11:2192001 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.90+2_90+3dup duplication Autosomal recessive DOPA responsive dystonia [RCV000672473] Chr11:2171693..2171694 [GRCh38]
Chr11:2192923..2192924 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.971C>T (p.Pro324Leu) single nucleotide variant not provided [RCV000658581] Chr11:2166639 [GRCh38]
Chr11:2187869 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.1176_1180del (p.Ser394fs) deletion Autosomal recessive DOPA responsive dystonia [RCV000673660] Chr11:2165688..2165692 [GRCh38]
Chr11:2186918..2186922 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic
NM_000360.4(TH):c.1266C>A (p.Tyr422Ter) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000666718] Chr11:2165300 [GRCh38]
Chr11:2186530 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.487+1G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000667848] Chr11:2168490 [GRCh38]
Chr11:2189720 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.90+7dup duplication Autosomal recessive DOPA responsive dystonia [RCV000671003] Chr11:2171687..2171688 [GRCh38]
Chr11:2192917..2192918 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000360.4(TH):c.91-871C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000671704] Chr11:2170742 [GRCh38]
Chr11:2191972 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.23C>T (p.Thr8Met) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001830536]|Inborn genetic diseases [RCV002533540]|not provided [RCV005243341] Chr11:2171764 [GRCh38]
Chr11:2192994 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.487+1G>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000668510] Chr11:2168490 [GRCh38]
Chr11:2189720 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.644_644+15del deletion Autosomal recessive DOPA responsive dystonia [RCV000666984] Chr11:2167851..2167866 [GRCh38]
Chr11:2189081..2189096 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.1129G>A (p.Gly377Arg) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000674826]|not specified [RCV005240450] Chr11:2165739 [GRCh38]
Chr11:2186969 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.203del (p.Leu68fs) deletion Autosomal recessive DOPA responsive dystonia [RCV000673779] Chr11:2169759 [GRCh38]
Chr11:2190989 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic
NM_000360.4(TH):c.90+13G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000671087] Chr11:2171684 [GRCh38]
Chr11:2192914 [GRCh37]
Chr11:11p15.5		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NC_000011.10:g.2171855A>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000665128] Chr11:2171855 [GRCh38]
Chr11:2193085 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.90+13G>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000670358] Chr11:2171684 [GRCh38]
Chr11:2192914 [GRCh37]
Chr11:11p15.5		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000360.4(TH):c.599G>C (p.Arg200Pro) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000670788] Chr11:2167911 [GRCh38]
Chr11:2189141 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.625_636del (p.Ile209_Gln212del) deletion Autosomal recessive DOPA responsive dystonia [RCV000671314] Chr11:2167874..2167885 [GRCh38]
Chr11:2189104..2189115 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.91-896_91-885del deletion Autosomal recessive DOPA responsive dystonia [RCV000671533] Chr11:2170756..2170767 [GRCh38]
Chr11:2191986..2191997 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.91-838C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000671574] Chr11:2170709 [GRCh38]
Chr11:2191939 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.90+10C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000671625] Chr11:2171687 [GRCh38]
Chr11:2192917 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000360.4(TH):c.312+1G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000671082] Chr11:2169649 [GRCh38]
Chr11:2190879 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.90+26G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000665663] Chr11:2171671 [GRCh38]
Chr11:2192901 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1200+5G>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000673063] Chr11:2165663 [GRCh38]
Chr11:2186893 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1335-1G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000667974] Chr11:2164393 [GRCh38]
Chr11:2185623 [GRCh37]
Chr11:11p15.5		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000360.4(TH):c.90+1G>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000666669] Chr11:2171696 [GRCh38]
Chr11:2192926 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1282del (p.Gln428fs) deletion Autosomal recessive DOPA responsive dystonia [RCV000666054] Chr11:2165284 [GRCh38]
Chr11:2186514 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.787G>C (p.Gly263Arg) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000666139]|not provided [RCV001756124] Chr11:2166941 [GRCh38]
Chr11:2188171 [GRCh37]
Chr11:11p15.5		 conflicting interpretations of pathogenicity|uncertain significance
NM_000360.4(TH):c.1382C>G (p.Pro461Arg) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000673839] Chr11:2164345 [GRCh38]
Chr11:2185575 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.845dup (p.Thr283fs) duplication Autosomal recessive DOPA responsive dystonia [RCV000666731] Chr11:2166764..2166765 [GRCh38]
Chr11:2187994..2187995 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.850G>A (p.Gly284Ser) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000674870] Chr11:2166760 [GRCh38]
Chr11:2187990 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic
NM_000360.4(TH):c.628G>A (p.Ala210Thr) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000668727] Chr11:2167882 [GRCh38]
Chr11:2189112 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000360.4(TH):c.278_296dup (p.Val100fs) duplication Autosomal recessive DOPA responsive dystonia [RCV000665867] Chr11:2169665..2169666 [GRCh38]
Chr11:2190895..2190896 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.304G>T (p.Val102Leu) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001108641]|Inborn genetic diseases [RCV005278649]|not provided [RCV000713851] Chr11:2169658 [GRCh38]
Chr11:2190888 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.696-2A>G single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000673081] Chr11:2167034 [GRCh38]
Chr11:2188264 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.91-892C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000664631]|Inborn genetic diseases [RCV002530633] Chr11:2170763 [GRCh38]
Chr11:2191993 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.679G>A (p.Glu227Lys) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000664861]|not provided [RCV000761754] Chr11:2167451 [GRCh38]
Chr11:2188681 [GRCh37]
Chr11:11p15.5		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_199292.3(TH):c.-71C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000674959] Chr11:2171857 [GRCh38]
Chr11:2193087 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3 copy number gain not provided [RCV000683369] Chr11:230615..9704511 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3 copy number gain not provided [RCV000683372] Chr11:230615..17099213 [GRCh37]
Chr11:11p15.5-15.1		 pathogenic
NM_000360.4(TH):c.517C>A (p.Leu173Met) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001830487]|not provided [RCV004692081] Chr11:2168150 [GRCh38]
Chr11:2189380 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.739G>C (p.Ala247Pro) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001861917] Chr11:2166989 [GRCh38]
Chr11:2188219 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1047+3A>G single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001322210] Chr11:2166477 [GRCh38]
Chr11:2187707 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.584C>T (p.Ser195Leu) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001271316] Chr11:2167926 [GRCh38]
Chr11:2189156 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.714_715del (p.Leu239fs) deletion Autosomal recessive DOPA responsive dystonia [RCV000721988] Chr11:2167013..2167014 [GRCh38]
Chr11:2188243..2188244 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic
NM_000360.4(TH):c.685A>T (p.Ile229Phe) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001271314]|TH-related disorder [RCV003953238] Chr11:2167445 [GRCh38]
Chr11:2188675 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_000360.4(TH):c.91-868C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001195971]|Inborn genetic diseases [RCV002547110] Chr11:2170739 [GRCh38]
Chr11:2191969 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_000360.4(TH):c.1084G>A (p.Glu362Lys) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001861906] Chr11:2166022 [GRCh38]
Chr11:2187252 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.978-3C>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001271311] Chr11:2166552 [GRCh38]
Chr11:2187782 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1228C>T (p.Arg410Trp) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000695395]|not provided [RCV001756201] Chr11:2165338 [GRCh38]
Chr11:2186568 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000360.4(TH):c.576G>A (p.Pro192=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001825365] Chr11:2168091 [GRCh38]
Chr11:2189321 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.585G>A (p.Ser195=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000764963]|not provided [RCV001592907] Chr11:2167925 [GRCh38]
Chr11:2189155 [GRCh37]
Chr11:11p15.5		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_000360.4(TH):c.488-97dup duplication not provided [RCV001667448] Chr11:2168270..2168271 [GRCh38]
Chr11:2189500..2189501 [GRCh37]
Chr11:11p15.5		 benign
NM_000360.4(TH):c.1048-151G>T single nucleotide variant not provided [RCV001680425] Chr11:2166209 [GRCh38]
Chr11:2187439 [GRCh37]
Chr11:11p15.5		 benign
NM_000360.4(TH):c.1422C>T (p.Ala474=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001106344] Chr11:2164305 [GRCh38]
Chr11:2185535 [GRCh37]
Chr11:11p15.5		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000360.4(TH):c.1334+9G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000872496] Chr11:2165223 [GRCh38]
Chr11:2186453 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.225G>A (p.Glu75=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001273887] Chr11:2169737 [GRCh38]
Chr11:2190967 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_000360.4(TH):c.644+80A>G single nucleotide variant not provided [RCV001574667] Chr11:2167786 [GRCh38]
Chr11:2189016 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1002del (p.His335fs) deletion Autosomal recessive DOPA responsive dystonia [RCV001582439] Chr11:2166525 [GRCh38]
Chr11:2187755 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.1287_1290del (p.Val430fs) microsatellite Autosomal recessive DOPA responsive dystonia [RCV003314471] Chr11:2165276..2165279 [GRCh38]
Chr11:2186506..2186509 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.185C>T (p.Ser62Leu) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001869044]|Inborn genetic diseases [RCV004027189]|not provided [RCV000761755] Chr11:2169777 [GRCh38]
Chr11:2191007 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.293_295dup (p.Arg98_Ala99insGly) duplication Autosomal recessive DOPA responsive dystonia [RCV000988471] Chr11:2169666..2169667 [GRCh38]
Chr11:2190896..2190897 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.167C>T (p.Ala56Val) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001273889]|Inborn genetic diseases [RCV004031435] Chr11:2169795 [GRCh38]
Chr11:2191025 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.447C>A (p.Arg149=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001489255]|not provided [RCV000994545] Chr11:2168531 [GRCh38]
Chr11:2189761 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_000360.4(TH):c.1171G>A (p.Gly391Arg) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001827280] Chr11:2165697 [GRCh38]
Chr11:2186927 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.91-53G>T single nucleotide variant not provided [RCV001648170] Chr11:2169924 [GRCh38]
Chr11:2191154 [GRCh37]
Chr11:11p15.5		 benign
NM_000360.4(TH):c.1224G>A (p.Glu408=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001506258] Chr11:2165342 [GRCh38]
Chr11:2186572 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1047+7C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001405416] Chr11:2166473 [GRCh38]
Chr11:2187703 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1233C>T (p.Ala411=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001271308] Chr11:2165333 [GRCh38]
Chr11:2186563 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_000360.4(TH):c.96G>A (p.Pro32=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000869905] Chr11:2169866 [GRCh38]
Chr11:2191096 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1227T>C (p.Ile409=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001271309] Chr11:2165339 [GRCh38]
Chr11:2186569 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_000360.4(TH):c.132C>T (p.Asp44=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001277933] Chr11:2169830 [GRCh38]
Chr11:2191060 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.786C>T (p.Ser262=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000881052] Chr11:2166942 [GRCh38]
Chr11:2188172 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.378C>T (p.Pro126=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001403326] Chr11:2168600 [GRCh38]
Chr11:2189830 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.582C>A (p.Phe194Leu) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000877327]|Inborn genetic diseases [RCV004962899] Chr11:2167928 [GRCh38]
Chr11:2189158 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_000360.4(TH):c.51C>T (p.Ala17=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000865766] Chr11:2171736 [GRCh38]
Chr11:2192966 [GRCh37]
Chr11:11p15.5		 benign
NM_000360.4(TH):c.1077G>A (p.Ser359=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001271310] Chr11:2166029 [GRCh38]
Chr11:2187259 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_000360.4(TH):c.675C>T (p.Thr225=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001105301] Chr11:2167455 [GRCh38]
Chr11:2188685 [GRCh37]
Chr11:11p15.5		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000360.4(TH):c.1389G>A (p.Thr463=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001271304]|TH-related disorder [RCV003965719] Chr11:2164338 [GRCh38]
Chr11:2185568 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_000360.4(TH):c.91-903C>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000981107] Chr11:2170774 [GRCh38]
Chr11:2192004 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1128C>T (p.Phe376=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000871474] Chr11:2165740 [GRCh38]
Chr11:2186970 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.91-904C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000927848] Chr11:2170775 [GRCh38]
Chr11:2192005 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1290C>T (p.Val430=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001271307] Chr11:2165276 [GRCh38]
Chr11:2186506 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_000360.4(TH):c.1476G>A (p.Ala492=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001275011] Chr11:2164251 [GRCh38]
Chr11:2185481 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.284C>T (p.Ala95Val) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001273886] Chr11:2169678 [GRCh38]
Chr11:2190908 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1121T>C (p.Val374Ala) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001862469] Chr11:2165747 [GRCh38]
Chr11:2186977 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.755T>C (p.Leu252Pro) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001062446] Chr11:2166973 [GRCh38]
Chr11:2188203 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.10:g.(?_2166470)_(2168675_?)del deletion Autosomal recessive DOPA responsive dystonia [RCV001378026]|Dystonic disorder [RCV001032363] Chr11:2187700..2189905 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NC_000011.9:g.(?_532616)_(2906985_?)dup duplication Neuronal ceroid lipofuscinosis [RCV001032557] Chr11:532616..2906985 [GRCh37]
Chr11:11p15.5-15.4		 uncertain significance
NM_000360.4(TH):c.302A>G (p.Lys101Arg) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001052289] Chr11:2169660 [GRCh38]
Chr11:2190890 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1430G>A (p.Arg477His) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001271303] Chr11:2164297 [GRCh38]
Chr11:2185527 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1251G>A (p.Ala417=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000867115] Chr11:2165315 [GRCh38]
Chr11:2186545 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.951G>A (p.Ala317=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001271312] Chr11:2166659 [GRCh38]
Chr11:2187889 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_000360.4(TH):c.81G>A (p.Glu27=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001277938] Chr11:2171706 [GRCh38]
Chr11:2192936 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.594G>T (p.Val198=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001271315]|TH-related disorder [RCV003918346]|not provided [RCV001310946] Chr11:2167916 [GRCh38]
Chr11:2189146 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_000360.4(TH):c.1287A>C (p.Ser429=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001108558]|not provided [RCV003424458] Chr11:2165279 [GRCh38]
Chr11:2186509 [GRCh37]
Chr11:11p15.5		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000360.4(TH):c.1182C>G (p.Ser394=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001484806] Chr11:2165686 [GRCh38]
Chr11:2186916 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.156G>A (p.Ala52=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002539209] Chr11:2169806 [GRCh38]
Chr11:2191036 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.462C>T (p.Asp154=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000871821] Chr11:2168516 [GRCh38]
Chr11:2189746 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.346C>A (p.Arg116=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000874385] Chr11:2168632 [GRCh38]
Chr11:2189862 [GRCh37]
Chr11:11p15.5		 likely benign
GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136) copy number gain Silver-Russell syndrome 1 [RCV000767567] Chr11:193146..12643136 [GRCh37]
Chr11:11p15.5-15.3		 pathogenic
NM_000360.4(TH):c.487+8G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000874645] Chr11:2168483 [GRCh38]
Chr11:2189713 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.459G>A (p.Glu153=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000865848]|not provided [RCV003424393] Chr11:2168519 [GRCh38]
Chr11:2189749 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.126C>A (p.Ile42=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001273890] Chr11:2169836 [GRCh38]
Chr11:2191066 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_000360.4(TH):c.474C>T (p.Pro158=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001271317] Chr11:2168504 [GRCh38]
Chr11:2189734 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_000360.4(TH):c.66C>T (p.Asp22=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001103471] Chr11:2171721 [GRCh38]
Chr11:2192951 [GRCh37]
Chr11:11p15.5		 benign
NM_000360.4(TH):c.873C>T (p.Ala291=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000870307] Chr11:2166737 [GRCh38]
Chr11:2187967 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.71A>G (p.Lys24Arg) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001103469] Chr11:2171716 [GRCh38]
Chr11:2192946 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.977+8C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001856256]|not provided [RCV004546566] Chr11:2166625 [GRCh38]
Chr11:2187855 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_000360.4(TH):c.391T>G (p.Phe131Val) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001273883]|not provided [RCV001356362] Chr11:2168587 [GRCh38]
Chr11:2189817 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.648C>T (p.Gly216=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001105302] Chr11:2167482 [GRCh38]
Chr11:2188712 [GRCh37]
Chr11:11p15.5		 conflicting interpretations of pathogenicity|uncertain significance
NC_000011.10:g.2168488C>T single nucleotide variant not provided [RCV000839680] Chr11:2189718 [GRCh37]
Chr11:11p15.5		 benign
NM_000360.4(TH):c.1254C>T (p.Ala418=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000870712] Chr11:2165312 [GRCh38]
Chr11:2186542 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.284C>G (p.Ala95Gly) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001825673]|not provided [RCV003480875] Chr11:2169678 [GRCh38]
Chr11:2190908 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1349G>A (p.Arg450His) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001271305] Chr11:2164378 [GRCh38]
Chr11:2185608 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.645-2A>G single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001376813] Chr11:2167487 [GRCh38]
Chr11:2188717 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.576+6_576+14del deletion Autosomal recessive DOPA responsive dystonia [RCV001277076]|not provided [RCV001555107] Chr11:2168077..2168085 [GRCh38]
Chr11:2189307..2189315 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_000360.4(TH):c.1215G>A (p.Glu405=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001835979] Chr11:2165351 [GRCh38]
Chr11:2186581 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_000360.4(TH):c.365G>A (p.Arg122Gln) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001273884] Chr11:2168613 [GRCh38]
Chr11:2189843 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_000360.4(TH):c.1035_1045del (p.Gln346fs) deletion Autosomal recessive DOPA responsive dystonia [RCV001004555] Chr11:2166482..2166492 [GRCh38]
Chr11:2187712..2187722 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic
NM_000360.4(TH):c.90+7G>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001858792]|not provided [RCV000994548] Chr11:2171690 [GRCh38]
Chr11:2192920 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.91-896G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001277937]|Inborn genetic diseases [RCV003258970]|not provided [RCV001200079] Chr11:2170767 [GRCh38]
Chr11:2191997 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_000360.4(TH):c.815T>G (p.Leu272Arg) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000988470] Chr11:2166913 [GRCh38]
Chr11:2188143 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.1334+3G>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001108557]|not provided [RCV001573670] Chr11:2165229 [GRCh38]
Chr11:2186459 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.91-891G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001277936]|not provided [RCV000994547] Chr11:2170762 [GRCh38]
Chr11:2191992 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_000360.4(TH):c.604C>T (p.Arg202Cys) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001825549] Chr11:2167906 [GRCh38]
Chr11:2189136 [GRCh37]
Chr11:11p15.5		 likely pathogenic|uncertain significance
NM_000360.4(TH):c.81G>T (p.Glu27Asp) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001103468]|TH-related disorder [RCV003928326]|not provided [RCV001585801] Chr11:2171706 [GRCh38]
Chr11:2192936 [GRCh37]
Chr11:11p15.5		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000360.4(TH):c.91-819G>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001302461] Chr11:2170690 [GRCh38]
Chr11:2191920 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.32C>A (p.Ala11Asp) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001358806] Chr11:2171755 [GRCh38]
Chr11:2192985 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1398C>T (p.Ile466=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001106346]|TH-related disorder [RCV003975370]|not provided [RCV001310942] Chr11:2164329 [GRCh38]
Chr11:2185559 [GRCh37]
Chr11:11p15.5		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000360.4(TH):c.576+8G>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001277077]|TH-related disorder [RCV003938214] Chr11:2168083 [GRCh38]
Chr11:2189313 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1475C>T (p.Ala492Val) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001835966]|Inborn genetic diseases [RCV003166190] Chr11:2164252 [GRCh38]
Chr11:2185482 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.457G>A (p.Glu153Lys) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001869259] Chr11:2168521 [GRCh38]
Chr11:2189751 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.978-4G>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003512091] Chr11:2166553 [GRCh38]
Chr11:2187783 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.950C>G (p.Ala317Gly) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001277074]|Inborn genetic diseases [RCV005286215]|not provided [RCV004693309] Chr11:2166660 [GRCh38]
Chr11:2187890 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.579C>A (p.Gly193=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001480988] Chr11:2167931 [GRCh38]
Chr11:2189161 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.43C>T (p.Arg15Cys) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001277079] Chr11:2171744 [GRCh38]
Chr11:2192974 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.195G>A (p.Gly65=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001273888] Chr11:2169767 [GRCh38]
Chr11:2190997 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_000360.4(TH):c.1104+6T>A single nucleotide variant not provided [RCV001091848] Chr11:2165996 [GRCh38]
Chr11:2187226 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1358G>A (p.Arg453His) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001809883]|not provided [RCV000994542]|not specified [RCV002298813] Chr11:2164369 [GRCh38]
Chr11:2185599 [GRCh37]
Chr11:11p15.5		 likely pathogenic|uncertain significance
NM_000360.4(TH):c.1316A>G (p.Asp439Gly) single nucleotide variant not provided [RCV000994543] Chr11:2165250 [GRCh38]
Chr11:2186480 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.443T>C (p.Val148Ala) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002550666]|not provided [RCV000994546] Chr11:2168535 [GRCh38]
Chr11:2189765 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.426C>T (p.Ala142=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000870047] Chr11:2168552 [GRCh38]
Chr11:2189782 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.575C>T (p.Pro192Leu) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001862797] Chr11:2168092 [GRCh38]
Chr11:2189322 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.646G>A (p.Gly216Ser) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001220234]|Dystonia 5 [RCV001353113]|not provided [RCV003317458] Chr11:2167484 [GRCh38]
Chr11:2188714 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic
NM_000360.4(TH):c.127G>A (p.Glu43Lys) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001277934]|Inborn genetic diseases [RCV002564063] Chr11:2169835 [GRCh38]
Chr11:2191065 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.842-10C>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001225883] Chr11:2166778 [GRCh38]
Chr11:2188008 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_000360.4(TH):c.293G>C (p.Arg98Pro) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001211042] Chr11:2169669 [GRCh38]
Chr11:2190899 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.479G>A (p.Gly160Glu) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001216746] Chr11:2168499 [GRCh38]
Chr11:2189729 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.448C>T (p.Gln150Ter) single nucleotide variant Dystonic disorder [RCV000853250] Chr11:2168530 [GRCh38]
Chr11:2189760 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_000360.4(TH):c.407T>A (p.Val136Glu) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000995669] Chr11:2168571 [GRCh38]
Chr11:2189801 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.-7C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001105394] Chr11:2171793 [GRCh38]
Chr11:2193023 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1047+17G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003105149] Chr11:2166463 [GRCh38]
Chr11:2187693 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1048-109G>A single nucleotide variant not provided [RCV001549624] Chr11:2166167 [GRCh38]
Chr11:2187397 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.91-54A>G single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001544280]|not provided [RCV001619967]|not specified [RCV004598023] Chr11:2169925 [GRCh38]
Chr11:2191155 [GRCh37]
Chr11:11p15.5		 benign
NM_000360.4(TH):c.1201-75G>A single nucleotide variant not provided [RCV001577697] Chr11:2165440 [GRCh38]
Chr11:2186670 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1147G>T (p.Gly383Trp) single nucleotide variant not specified [RCV003317689] Chr11:2165721 [GRCh38]
Chr11:2186951 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1105-48G>A single nucleotide variant not provided [RCV001559868] Chr11:2165811 [GRCh38]
Chr11:2187041 [GRCh37]
Chr11:11p15.5		 likely benign
NC_000011.10:g.2163897C>G single nucleotide variant not provided [RCV001685123] Chr11:2163897 [GRCh38]
Chr11:2163897..2163898 [GRCh38]
Chr11:2185127 [GRCh37]
Chr11:2185127..2185128 [GRCh37]
Chr11:11p15.5		 benign
NM_000360.4(TH):c.1335-95T>C single nucleotide variant not provided [RCV001593836] Chr11:2164487 [GRCh38]
Chr11:2185717 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.91-528G>C single nucleotide variant not provided [RCV001590153] Chr11:2170399 [GRCh38]
Chr11:2191629 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1048-194G>C single nucleotide variant not provided [RCV001530815] Chr11:2166252 [GRCh38]
Chr11:2187482 [GRCh37]
Chr11:11p15.5		 benign
NM_000360.4(TH):c.692C>G (p.Thr231Ser) single nucleotide variant Dystonic disorder [RCV000853251] Chr11:2167438 [GRCh38]
Chr11:2188668 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.91-828C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001273891]|not provided [RCV003424383] Chr11:2170699 [GRCh38]
Chr11:2191929 [GRCh37]
Chr11:11p15.5		 benign|likely benign
NM_000360.4(TH):c.402C>T (p.Leu134=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000983588] Chr11:2168576 [GRCh38]
Chr11:2189806 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1350C>A (p.Arg450=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001425715] Chr11:2164377 [GRCh38]
Chr11:2185607 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.24G>A (p.Thr8=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000866256]|not provided [RCV003424396] Chr11:2171763 [GRCh38]
Chr11:2192993 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.345C>G (p.Thr115=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001468057] Chr11:2168633 [GRCh38]
Chr11:2189863 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.372G>A (p.Gly124=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000866414]|TH-related disorder [RCV003948114]|not provided [RCV004707430] Chr11:2168606 [GRCh38]
Chr11:2189836 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.977+10C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001464885] Chr11:2166623 [GRCh38]
Chr11:2187853 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1389G>T (p.Thr463=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000951696]|not provided [RCV003326522] Chr11:2164338 [GRCh38]
Chr11:2185568 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1377C>T (p.Phe459=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001275012]|not provided [RCV003326523] Chr11:2164350 [GRCh38]
Chr11:2185580 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1149G>A (p.Gly383=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002540807] Chr11:2165719 [GRCh38]
Chr11:2186949 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.828C>G (p.Ser276=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001858573] Chr11:2166900 [GRCh38]
Chr11:2188130 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.644+10C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000881967] Chr11:2167856 [GRCh38]
Chr11:2189086 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.348G>A (p.Arg116=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001491868] Chr11:2168630 [GRCh38]
Chr11:2189860 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1317C>T (p.Asp439=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001271306] Chr11:2165249 [GRCh38]
Chr11:2186479 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_000360.4(TH):c.126C>T (p.Ile42=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV000951406] Chr11:2169836 [GRCh38]
Chr11:2191066 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.685A>C (p.Ile229Leu) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001034803] Chr11:2167445 [GRCh38]
Chr11:2188675 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.635A>G (p.Gln212Arg) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001244515] Chr11:2167875 [GRCh38]
Chr11:2189105 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1383G>A (p.Pro461=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001106347] Chr11:2164344 [GRCh38]
Chr11:2185574 [GRCh37]
Chr11:11p15.5		 conflicting interpretations of pathogenicity|uncertain significance
NM_000360.4(TH):c.990del (p.His330fs) deletion Autosomal recessive DOPA responsive dystonia [RCV001245005] Chr11:2166537 [GRCh38]
Chr11:2187767 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_000360.4(TH):c.1102A>T (p.Thr368Ser) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001834108] Chr11:2166004 [GRCh38]
Chr11:2187234 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.244C>G (p.Leu82Val) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001108642] Chr11:2169718 [GRCh38]
Chr11:2190948 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.674C>A (p.Thr225Asn) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001835245] Chr11:2167456 [GRCh38]
Chr11:2188686 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.730G>T (p.Ala244Ser) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001828723] Chr11:2166998 [GRCh38]
Chr11:2188228 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1228C>A (p.Arg410=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001108559] Chr11:2165338 [GRCh38]
Chr11:2186568 [GRCh37]
Chr11:11p15.5		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000360.4(TH):c.696-5C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001415343] Chr11:2167037 [GRCh38]
Chr11:2188267 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1029C>T (p.Thr343=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001399314] Chr11:2166498 [GRCh38]
Chr11:2187728 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1048-189G>A single nucleotide variant not provided [RCV001676917] Chr11:2166247 [GRCh38]
Chr11:2187477 [GRCh37]
Chr11:11p15.5		 benign
NM_000360.4(TH):c.1334+303C>T single nucleotide variant not provided [RCV001560112] Chr11:2164929 [GRCh38]
Chr11:2186159 [GRCh37]
Chr11:11p15.5		 likely benign
GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3 copy number gain not provided [RCV002472435] Chr11:230616..8250724 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_000360.4(TH):c.695+39G>A single nucleotide variant not provided [RCV001555136] Chr11:2167396 [GRCh38]
Chr11:2188626 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1048-110A>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001544279]|not provided [RCV001619966]|not specified [RCV004598022] Chr11:2166168 [GRCh38]
Chr11:2187398 [GRCh37]
Chr11:11p15.5		 benign
NM_000360.4(TH):c.1334+38C>T single nucleotide variant not provided [RCV001576267] Chr11:2165194 [GRCh38]
Chr11:2186424 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.645-74A>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001832758]|not provided [RCV001555994] Chr11:2167559 [GRCh38]
Chr11:2188789 [GRCh37]
Chr11:11p15.5		 benign|likely benign
NM_000360.4(TH):c.91-608G>A single nucleotide variant not provided [RCV001594486] Chr11:2170479 [GRCh38]
Chr11:2191709 [GRCh37]
Chr11:11p15.5		 benign
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 copy number gain not provided [RCV001006372] Chr11:235934..33826995 [GRCh37]
Chr11:11p15.5-13		 pathogenic
NM_000360.4(TH):c.91-732C>T single nucleotide variant not provided [RCV001587483] Chr11:2170603 [GRCh38]
Chr11:2191833 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1048-167A>C single nucleotide variant not provided [RCV001722835] Chr11:2166225 [GRCh38]
Chr11:2187455 [GRCh37]
Chr11:11p15.5		 benign
NM_000360.4(TH):c.1105-78A>G single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001537989]|not provided [RCV001673150]|not specified [RCV004598014] Chr11:2165841 [GRCh38]
Chr11:2187071 [GRCh37]
Chr11:11p15.5		 benign
NM_000360.4(TH):c.91-282G>C single nucleotide variant not provided [RCV001651761] Chr11:2170153 [GRCh38]
Chr11:2191383 [GRCh37]
Chr11:11p15.5		 benign
NM_000360.4(TH):c.1048-154G>T single nucleotide variant not provided [RCV001716688] Chr11:2166212 [GRCh38]
Chr11:2187442 [GRCh37]
Chr11:11p15.5		 benign
NM_000360.4(TH):c.565T>G (p.Leu189Val) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001835251] Chr11:2168102 [GRCh38]
Chr11:2189332 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.*102C>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001105207] Chr11:2164131 [GRCh38]
Chr11:2185361 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.424G>T (p.Ala142Ser) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001106437] Chr11:2168554 [GRCh38]
Chr11:2189784 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1192G>A (p.Glu398Lys) single nucleotide variant not provided [RCV001091847] Chr11:2165676 [GRCh38]
Chr11:2186906 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.*9C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001106342] Chr11:2164224 [GRCh38]
Chr11:2185454 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1423G>A (p.Val475Met) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001106343]|not specified [RCV005236605] Chr11:2164304 [GRCh38]
Chr11:2185534 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1119G>A (p.Thr373=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001103388] Chr11:2165749 [GRCh38]
Chr11:2186979 [GRCh37]
Chr11:11p15.5		 conflicting interpretations of pathogenicity|uncertain significance
NM_000360.4(TH):c.793C>G (p.Arg265Gly) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001103389] Chr11:2166935 [GRCh38]
Chr11:2188165 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.171C>T (p.Ala57=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001103467] Chr11:2169791 [GRCh38]
Chr11:2191021 [GRCh37]
Chr11:11p15.5		 conflicting interpretations of pathogenicity|uncertain significance
NM_000360.4(TH):c.695+99G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001537992]|not provided [RCV001685458]|not specified [RCV004598015] Chr11:2167336 [GRCh38]
Chr11:2188566 [GRCh37]
Chr11:11p15.5		 benign
NC_000011.10:g.2172174G>A single nucleotide variant not provided [RCV001585021] Chr11:2172174 [GRCh38]
Chr11:2193404 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.645C>A (p.His215Gln) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001217080] Chr11:2167485 [GRCh38]
Chr11:2188715 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.991G>T (p.Glu331Ter) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001041901] Chr11:2166536 [GRCh38]
Chr11:2187766 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_000360.4(TH):c.1348C>T (p.Arg450Cys) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001275013]|Inborn genetic diseases [RCV002554439] Chr11:2164379 [GRCh38]
Chr11:2185609 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.78del (p.Glu27fs) deletion Autosomal recessive DOPA responsive dystonia [RCV001217693] Chr11:2171709 [GRCh38]
Chr11:2192939 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_000360.4(TH):c.1490G>A (p.Gly497Asp) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003103931] Chr11:2164237 [GRCh38]
Chr11:2185467 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.9:g.(?_612625)_(2193840_?)dup duplication Immunodeficiency 39 [RCV001033372] Chr11:612625..2193840 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.*135C>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001105206] Chr11:2164098 [GRCh38]
Chr11:2185328 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.*54C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001105208] Chr11:2164179 [GRCh38]
Chr11:2185409 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.393C>T (p.Phe131=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001106438]|TH-related disorder [RCV003938452] Chr11:2168585 [GRCh38]
Chr11:2189815 [GRCh37]
Chr11:11p15.5		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000360.4(TH):c.338T>C (p.Leu113Pro) single nucleotide variant Dystonic disorder [RCV001037058] Chr11:2168640 [GRCh38]
Chr11:2189870 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.202C>T (p.Leu68=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001103466] Chr11:2169760 [GRCh38]
Chr11:2190990 [GRCh37]
Chr11:11p15.5		 conflicting interpretations of pathogenicity|uncertain significance
NM_000360.4(TH):c.1076C>T (p.Ser359Leu) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001833616] Chr11:2166030 [GRCh38]
Chr11:2187260 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.394G>A (p.Val132Met) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001271318] Chr11:2168584 [GRCh38]
Chr11:2189814 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.794G>A (p.Arg265Gln) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001277075] Chr11:2166934 [GRCh38]
Chr11:2188164 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1297G>A (p.Val433Met) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001275014]|Inborn genetic diseases [RCV002553941] Chr11:2165269 [GRCh38]
Chr11:2186499 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.818A>C (p.Glu273Ala) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001197228] Chr11:2166910 [GRCh38]
Chr11:2188140 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5(chr11:1436158-2321134)x3 copy number gain not provided [RCV001259591] Chr11:1436158..2321134 [GRCh37]
Chr11:11p15.5		 pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-4851537)x3 copy number gain See cases [RCV001263059] Chr11:230615..4851537 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_000360.4(TH):c.216C>T (p.Ala72=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001331961] Chr11:2169746 [GRCh38]
Chr11:2190976 [GRCh37]
Chr11:11p15.5		 conflicting interpretations of pathogenicity|uncertain significance
NM_000360.4(TH):c.696-126C>G single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001537990]|not provided [RCV001685457] Chr11:2167158 [GRCh38]
Chr11:2188388 [GRCh37]
Chr11:11p15.5		 benign
NM_000360.4(TH):c.977+9G>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001277926] Chr11:2166624 [GRCh38]
Chr11:2187854 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_000360.4(TH):c.133G>A (p.Ala45Thr) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001277932] Chr11:2169829 [GRCh38]
Chr11:2191059 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3 copy number gain Silver-Russell syndrome 1 [RCV001263222] Chr11:210300..8664358 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_000360.4(TH):c.104T>C (p.Ile35Thr) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001866092]|Inborn genetic diseases [RCV004039461]|not provided [RCV001579749] Chr11:2169858 [GRCh38]
Chr11:2191088 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NC_000011.9:g.(?_612625)_(2193840_?)dup duplication Autosomal recessive DOPA responsive dystonia [RCV001301561]|Immunodeficiency 39 [RCV001033372] Chr11:612625..2193840 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.773T>C (p.Leu258Pro) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001308638] Chr11:2166955 [GRCh38]
Chr11:2188185 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.*9C>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001280406] Chr11:2164224 [GRCh38]
Chr11:2185454 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1442G>A (p.Gly481Asp) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001280408]|Inborn genetic diseases [RCV002542958] Chr11:2164285 [GRCh38]
Chr11:2185515 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_000360.4(TH):c.841+5G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001294636]|not provided [RCV005243502] Chr11:2166882 [GRCh38]
Chr11:2188112 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:10701-5080415)x2 copy number gain See cases [RCV001310286] Chr11:10701..5080415 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_000360.4(TH):c.401_412del (p.Leu134_Arg137del) deletion Autosomal recessive DOPA responsive dystonia [RCV001321611] Chr11:2168566..2168577 [GRCh38]
Chr11:2189796..2189807 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.696-3C>T single nucleotide variant not provided [RCV001310944] Chr11:2167035 [GRCh38]
Chr11:2188265 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.696-4G>T single nucleotide variant not provided [RCV001310945] Chr11:2167036 [GRCh38]
Chr11:2188266 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.513A>G (p.Ser171=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001392338] Chr11:2168154 [GRCh38]
Chr11:2189384 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1201-10C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001414422] Chr11:2165375 [GRCh38]
Chr11:2186605 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.351C>T (p.Pro117=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001434131] Chr11:2168627 [GRCh38]
Chr11:2189857 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.286C>T (p.Leu96=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001394873] Chr11:2169676 [GRCh38]
Chr11:2190906 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.696-138G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001537991]|not provided [RCV001538293] Chr11:2167170 [GRCh38]
Chr11:2188400 [GRCh37]
Chr11:11p15.5		 benign
NM_000360.4(TH):c.231G>A (p.Glu77=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001392000] Chr11:2169731 [GRCh38]
Chr11:2190961 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.91-873C>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001414579] Chr11:2170744 [GRCh38]
Chr11:2191974 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1105-5C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001422813] Chr11:2165768 [GRCh38]
Chr11:2186998 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.723C>A (p.Gly241=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001392617] Chr11:2167005 [GRCh38]
Chr11:2188235 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.969C>T (p.Ser323=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001396081] Chr11:2166641 [GRCh38]
Chr11:2187871 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.768T>C (p.Ala256=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001392668] Chr11:2166960 [GRCh38]
Chr11:2188190 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.730G>C (p.Ala244Pro) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001332030] Chr11:2166998 [GRCh38]
Chr11:2188228 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1201-10C>G single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001415304] Chr11:2165375 [GRCh38]
Chr11:2186605 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.91-888G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001422079] Chr11:2170759 [GRCh38]
Chr11:2191989 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1105-4G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001433531] Chr11:2165767 [GRCh38]
Chr11:2186997 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.669G>A (p.Glu223=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001397640] Chr11:2167461 [GRCh38]
Chr11:2188691 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.200C>T (p.Pro67Leu) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001333736]|Inborn genetic diseases [RCV005286415] Chr11:2169762 [GRCh38]
Chr11:2190992 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.931A>G (p.Thr311Ala) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001306745] Chr11:2166679 [GRCh38]
Chr11:2187909 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.9:g.(?_298501)_(4113028_?)dup duplication Developmental and epileptic encephalopathy [RCV001316682] Chr11:298501..4113028 [GRCh37]
Chr11:11p15.5-15.4		 uncertain significance
NM_000360.4(TH):c.1380C>A (p.Asp460Glu) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001277920] Chr11:2164347 [GRCh38]
Chr11:2185577 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.978-6G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001277925] Chr11:2166555 [GRCh38]
Chr11:2187785 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_000360.4(TH):c.769T>C (p.Leu257=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001277927] Chr11:2166959 [GRCh38]
Chr11:2188189 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_000360.4(TH):c.477G>A (p.Ala159=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001277929] Chr11:2168501 [GRCh38]
Chr11:2189731 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_000360.4(TH):c.1333A>G (p.Arg445Gly) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001277921] Chr11:2165233 [GRCh38]
Chr11:2186463 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1086A>C (p.Glu362Asp) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001277923] Chr11:2166020 [GRCh38]
Chr11:2187250 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.259T>C (p.Ser87Pro) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001302025] Chr11:2169703 [GRCh38]
Chr11:2190933 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1296C>A (p.Phe432Leu) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001310015] Chr11:2165270 [GRCh38]
Chr11:2186500 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1382C>T (p.Pro461Leu) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001300835] Chr11:2164345 [GRCh38]
Chr11:2185575 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000360.4(TH):c.*8G>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001280407] Chr11:2164225 [GRCh38]
Chr11:2185455 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.285G>A (p.Ala95=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001421072]|TH-related disorder [RCV003946101] Chr11:2169677 [GRCh38]
Chr11:2190907 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.576+10G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001277928] Chr11:2168081 [GRCh38]
Chr11:2189311 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_000360.4(TH):c.1250C>T (p.Ala417Val) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001277922] Chr11:2165316 [GRCh38]
Chr11:2186546 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.344C>T (p.Thr115Ile) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001277930]|Inborn genetic diseases [RCV002537778]|not provided [RCV003225172] Chr11:2168634 [GRCh38]
Chr11:2189864 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.145C>T (p.Arg49Trp) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001277931]|not specified [RCV003323843] Chr11:2169817 [GRCh38]
Chr11:2191047 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.600C>T (p.Arg200=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001412688] Chr11:2167910 [GRCh38]
Chr11:2189140 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.150G>A (p.Glu50=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001494982] Chr11:2169812 [GRCh38]
Chr11:2191042 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.91-821A>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001395279] Chr11:2170692 [GRCh38]
Chr11:2191922 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.38G>C (p.Gly13Ala) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001306788] Chr11:2171749 [GRCh38]
Chr11:2192979 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.822C>T (p.Asp274=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001421047] Chr11:2166906 [GRCh38]
Chr11:2188136 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1236C>T (p.Phe412=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001474964] Chr11:2165330 [GRCh38]
Chr11:2186560 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.111C>T (p.Arg37=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001457611] Chr11:2169851 [GRCh38]
Chr11:2191081 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.804T>C (p.Asn268=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001398859] Chr11:2166924 [GRCh38]
Chr11:2188154 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.417G>A (p.Gly139=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001424474] Chr11:2168561 [GRCh38]
Chr11:2189791 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.91-870T>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001495046] Chr11:2170741 [GRCh38]
Chr11:2191971 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.519G>A (p.Leu173=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001485496] Chr11:2168148 [GRCh38]
Chr11:2189378 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.488-1G>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001377711] Chr11:2168180 [GRCh38]
Chr11:2189410 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.1050C>T (p.Asp350=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001399258] Chr11:2166056 [GRCh38]
Chr11:2187286 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1092G>A (p.Glu364=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001475228] Chr11:2166014 [GRCh38]
Chr11:2187244 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1334+127T>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001509890]|not provided [RCV001712912] Chr11:2165105 [GRCh38]
Chr11:2186335 [GRCh37]
Chr11:11p15.5		 benign
NM_000360.4(TH):c.108G>A (p.Gly36=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001484574]|TH-related disorder [RCV003980417] Chr11:2169854 [GRCh38]
Chr11:2191084 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1308C>T (p.Ser436=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001475603] Chr11:2165258 [GRCh38]
Chr11:2186488 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.644+8G>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001463211] Chr11:2167858 [GRCh38]
Chr11:2189088 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1390C>T (p.Leu464=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001428633]|TH-related disorder [RCV003930916] Chr11:2164337 [GRCh38]
Chr11:2185567 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1334+9G>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001462307] Chr11:2165223 [GRCh38]
Chr11:2186453 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.849G>C (p.Thr283=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001503277] Chr11:2166761 [GRCh38]
Chr11:2187991 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.30G>A (p.Gln10=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001468003] Chr11:2171757 [GRCh38]
Chr11:2192987 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.414A>G (p.Arg138=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001489453] Chr11:2168564 [GRCh38]
Chr11:2189794 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.303G>A (p.Lys101=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001403662] Chr11:2169659 [GRCh38]
Chr11:2190889 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1332C>T (p.Leu444=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001398226] Chr11:2165234 [GRCh38]
Chr11:2186464 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.576+8G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001506208] Chr11:2168083 [GRCh38]
Chr11:2189313 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.978-6G>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001493412] Chr11:2166555 [GRCh38]
Chr11:2187785 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1464C>A (p.Thr488=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001453782] Chr11:2164263 [GRCh38]
Chr11:2185493 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1197C>T (p.Leu399=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001467364] Chr11:2165671 [GRCh38]
Chr11:2186901 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1341T>C (p.Tyr447=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001493420] Chr11:2164386 [GRCh38]
Chr11:2185616 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1404G>C (p.Val468=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001481616] Chr11:2164323 [GRCh38]
Chr11:2185553 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1041C>T (p.Phe347=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001485015] Chr11:2166486 [GRCh38]
Chr11:2187716 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.174T>A (p.Ala58=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001419506] Chr11:2169788 [GRCh38]
Chr11:2191018 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.75G>A (p.Gln25=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001440587] Chr11:2171712 [GRCh38]
Chr11:2192942 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1062G>A (p.Ala354=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001452999] Chr11:2166044 [GRCh38]
Chr11:2187274 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.63G>A (p.Leu21=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001501314] Chr11:2171724 [GRCh38]
Chr11:2192954 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.996G>T (p.Leu332=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001469222] Chr11:2166531 [GRCh38]
Chr11:2187761 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.873C>G (p.Ala291=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001490006] Chr11:2166737 [GRCh38]
Chr11:2187967 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.135C>T (p.Ala45=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001435184] Chr11:2169827 [GRCh38]
Chr11:2191057 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.21C>A (p.Thr7=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001435417] Chr11:2171766 [GRCh38]
Chr11:2192996 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.510G>T (p.Val170=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001440985] Chr11:2168157 [GRCh38]
Chr11:2189387 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.613C>T (p.Leu205=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001441009] Chr11:2167897 [GRCh38]
Chr11:2189127 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.678C>T (p.Ala226=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001443451] Chr11:2167452 [GRCh38]
Chr11:2188682 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.990C>T (p.His330=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001406892] Chr11:2166537 [GRCh38]
Chr11:2187767 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1200+2T>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001378224] Chr11:2165666 [GRCh38]
Chr11:2186896 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.807C>A (p.Ile269=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001441070] Chr11:2166921 [GRCh38]
Chr11:2188151 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.630C>T (p.Ala210=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001418702] Chr11:2167880 [GRCh38]
Chr11:2189110 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.91-822A>G single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001432935] Chr11:2170693 [GRCh38]
Chr11:2191923 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.654G>A (p.Pro218=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001417980] Chr11:2167476 [GRCh38]
Chr11:2188706 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.954C>T (p.Ser318=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001444207] Chr11:2166656 [GRCh38]
Chr11:2187886 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.984C>T (p.Cys328=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001449255] Chr11:2166543 [GRCh38]
Chr11:2187773 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.756G>C (p.Leu252=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001434576] Chr11:2166972 [GRCh38]
Chr11:2188202 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.996G>A (p.Leu332=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001436233] Chr11:2166531 [GRCh38]
Chr11:2187761 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.192C>T (p.Pro64=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001426867] Chr11:2169770 [GRCh38]
Chr11:2191000 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.885C>T (p.Ser295=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001410743] Chr11:2166725 [GRCh38]
Chr11:2187955 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.825C>T (p.Val275=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001428933] Chr11:2166903 [GRCh38]
Chr11:2188133 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.382C>T (p.Leu128=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001398224] Chr11:2168596 [GRCh38]
Chr11:2189826 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.636G>A (p.Gln212=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001447887] Chr11:2167874 [GRCh38]
Chr11:2189104 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.488-1G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001379802] Chr11:2168180 [GRCh38]
Chr11:2189410 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic
NM_000360.4(TH):c.1071G>C (p.Gly357=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001445472] Chr11:2166035 [GRCh38]
Chr11:2187265 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.714G>C (p.Thr238=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001432096] Chr11:2167014 [GRCh38]
Chr11:2188244 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.408G>A (p.Val136=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001416457] Chr11:2168570 [GRCh38]
Chr11:2189800 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.313-88G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001537994]|not provided [RCV001595097] Chr11:2168753 [GRCh38]
Chr11:2189983 [GRCh37]
Chr11:11p15.5		 benign
NM_000360.4(TH):c.1188C>T (p.Tyr396=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001435319] Chr11:2165680 [GRCh38]
Chr11:2186910 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1119G>C (p.Thr373=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001445657] Chr11:2165749 [GRCh38]
Chr11:2186979 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1200+9C>G single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001432506] Chr11:2165659 [GRCh38]
Chr11:2186889 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.864G>C (p.Arg288=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001448600] Chr11:2166746 [GRCh38]
Chr11:2187976 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.432G>C (p.Leu144=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001494082] Chr11:2168546 [GRCh38]
Chr11:2189776 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1047+10G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001472825] Chr11:2166470 [GRCh38]
Chr11:2187700 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.282G>C (p.Ser94=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001450594] Chr11:2169680 [GRCh38]
Chr11:2190910 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.312+10T>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001482231] Chr11:2169640 [GRCh38]
Chr11:2190870 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.90+129G>A single nucleotide variant not provided [RCV001673551] Chr11:2171568 [GRCh38]
Chr11:2192798 [GRCh37]
Chr11:11p15.5		 benign
NC_000011.10:g.2172610A>G single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001509891]|Schizophrenia [RCV003633586] Chr11:2172610 [GRCh38]
Chr11:2193840 [GRCh37]
Chr11:11p15.5		 benign
NM_000360.4(TH):c.696-174T>C single nucleotide variant not provided [RCV001671653] Chr11:2167206 [GRCh38]
Chr11:2188436 [GRCh37]
Chr11:11p15.5		 benign
NM_000360.4(TH):c.981C>T (p.Asp327=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001452122] Chr11:2166546 [GRCh38]
Chr11:2187776 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.9C>G (p.Thr3=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001480024] Chr11:2171778 [GRCh38]
Chr11:2193008 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1200+53G>A single nucleotide variant not provided [RCV001673648] Chr11:2165615 [GRCh38]
Chr11:2186845 [GRCh37]
Chr11:11p15.5		 benign
NM_000360.4(TH):c.1461C>T (p.Asp487=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001497246] Chr11:2164266 [GRCh38]
Chr11:2185496 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1191G>A (p.Gly397=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001455806] Chr11:2165677 [GRCh38]
Chr11:2186907 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1200+83A>T single nucleotide variant not provided [RCV001695859] Chr11:2165585 [GRCh38]
Chr11:2186815 [GRCh37]
Chr11:11p15.5		 benign
NM_000360.4(TH):c.849G>A (p.Thr283=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001466548] Chr11:2166761 [GRCh38]
Chr11:2187991 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.997C>T (p.Leu333=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001480595] Chr11:2166530 [GRCh38]
Chr11:2187760 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.543C>A (p.Thr181=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001488322] Chr11:2168124 [GRCh38]
Chr11:2189354 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.644+8G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001453556] Chr11:2167858 [GRCh38]
Chr11:2189088 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.240C>T (p.Ala80=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001463989] Chr11:2169722 [GRCh38]
Chr11:2190952 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1174C>T (p.Leu392=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001501716] Chr11:2165694 [GRCh38]
Chr11:2186924 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1170C>T (p.Ala390=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001425104] Chr11:2165698 [GRCh38]
Chr11:2186928 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1218G>A (p.Glu406=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001419045] Chr11:2165348 [GRCh38]
Chr11:2186578 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.91-867G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001442100] Chr11:2170738 [GRCh38]
Chr11:2191968 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.333C>T (p.His111=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001431288] Chr11:2168645 [GRCh38]
Chr11:2189875 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1201-8C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001477629] Chr11:2165373 [GRCh38]
Chr11:2186603 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.696-7C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001501616] Chr11:2167039 [GRCh38]
Chr11:2188269 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1296C>T (p.Phe432=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001438009]|not provided [RCV003883643] Chr11:2165270 [GRCh38]
Chr11:2186500 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.627C>T (p.Ile209=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001495912] Chr11:2167883 [GRCh38]
Chr11:2189113 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1201-8_1201-6del microsatellite Autosomal recessive DOPA responsive dystonia [RCV001439744] Chr11:2165371..2165373 [GRCh38]
Chr11:2186601..2186603 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.577-7C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001483143] Chr11:2167940 [GRCh38]
Chr11:2189170 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.96G>C (p.Pro32=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001476277] Chr11:2169866 [GRCh38]
Chr11:2191096 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1062G>T (p.Ala354=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001502118] Chr11:2166044 [GRCh38]
Chr11:2187274 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.672C>T (p.Tyr224=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001392963] Chr11:2167458 [GRCh38]
Chr11:2188688 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.660C>G (p.Pro220=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001415631] Chr11:2167470 [GRCh38]
Chr11:2188700 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.732C>T (p.Ala244=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001417695] Chr11:2166996 [GRCh38]
Chr11:2188226 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.91-831C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001498662] Chr11:2170702 [GRCh38]
Chr11:2191932 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.696-8_696-7delinsCT indel Autosomal recessive DOPA responsive dystonia [RCV001461199] Chr11:2167039..2167040 [GRCh38]
Chr11:2188269..2188270 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1048-4A>G single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001404224] Chr11:2166062 [GRCh38]
Chr11:2187292 [GRCh37]
Chr11:11p15.5		 likely benign
NC_000011.9:g.(?_2186110)_2187232del deletion Autosomal recessive DOPA responsive dystonia [RCV001378970]   likely pathogenic
NM_000360.4(TH):c.577-10C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001393062] Chr11:2167943 [GRCh38]
Chr11:2189173 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.534C>T (p.His178=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001416115] Chr11:2168133 [GRCh38]
Chr11:2189363 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.576+13C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001521908] Chr11:2168078 [GRCh38]
Chr11:2189308 [GRCh37]
Chr11:11p15.5		 benign
NM_000360.4(TH):c.788del (p.Gly263fs) deletion Autosomal recessive DOPA responsive dystonia [RCV001385616] Chr11:2166940 [GRCh38]
Chr11:2188170 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_000360.4(TH):c.714G>A (p.Thr238=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001480821] Chr11:2167014 [GRCh38]
Chr11:2188244 [GRCh37]
Chr11:11p15.5		 likely benign
NC_000011.9:g.(?_2188266)_2189719del deletion Autosomal recessive DOPA responsive dystonia [RCV001378969]   likely pathogenic
NM_000360.4(TH):c.1048-2A>G single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001379177] Chr11:2166060 [GRCh38]
Chr11:2187290 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.831C>G (p.Arg277=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001441412] Chr11:2166897 [GRCh38]
Chr11:2188127 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1449G>A (p.Gln483=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001426641] Chr11:2164278 [GRCh38]
Chr11:2185508 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.93C>T (p.Ser31=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001505719] Chr11:2169869 [GRCh38]
Chr11:2191099 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1428G>A (p.Arg476=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001489807] Chr11:2164299 [GRCh38]
Chr11:2185529 [GRCh37]
Chr11:11p15.5		 likely benign
NC_000011.10:g.2172367C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001518392] Chr11:2172367 [GRCh38]
Chr11:2172367..2172368 [GRCh38]
Chr11:2193597 [GRCh37]
Chr11:2193597..2193598 [GRCh37]
Chr11:11p15.5		 benign
NM_000360.4(TH):c.546G>A (p.Lys182=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001466900] Chr11:2168121 [GRCh38]
Chr11:2189351 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1239C>T (p.Asp413=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001466933] Chr11:2165327 [GRCh38]
Chr11:2186557 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.724C>T (p.Leu242Phe) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002246772] Chr11:2167004 [GRCh38]
Chr11:2188234 [GRCh37]
Chr11:11p15.5		 pathogenic|conflicting interpretations of pathogenicity
NM_000360.4(TH):c.1335-15C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003109194] Chr11:2164407 [GRCh38]
Chr11:2185637 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1186T>C (p.Tyr396His) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003108735] Chr11:2165682 [GRCh38]
Chr11:2186912 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.923T>G (p.Phe308Cys) single nucleotide variant not provided [RCV001754755] Chr11:2166687 [GRCh38]
Chr11:2187917 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.488-17C>G single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003120657]|not provided [RCV001754194] Chr11:2168196 [GRCh38]
Chr11:2189426 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1318G>T (p.Ala440Ser) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002477934]|not provided [RCV001752336] Chr11:2165248 [GRCh38]
Chr11:2186478 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.446G>T (p.Arg149Leu) single nucleotide variant not provided [RCV001763879] Chr11:2168532 [GRCh38]
Chr11:2189762 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.458A>G (p.Glu153Gly) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002544137]|not provided [RCV001763904] Chr11:2168520 [GRCh38]
Chr11:2189750 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1300T>C (p.Ser434Pro) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001775267]|not provided [RCV005241466] Chr11:2165266 [GRCh38]
Chr11:2186496 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.155C>T (p.Ala52Val) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001882837]|not provided [RCV001758112] Chr11:2169807 [GRCh38]
Chr11:2191037 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.220GAG[1] (p.Glu75del) microsatellite not provided [RCV001758141] Chr11:2169737..2169739 [GRCh38]
Chr11:2190967..2190969 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.706T>G (p.Tyr236Asp) single nucleotide variant not provided [RCV001757876] Chr11:2167022 [GRCh38]
Chr11:2188252 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1154T>C (p.Val385Ala) single nucleotide variant not provided [RCV001757877] Chr11:2165714 [GRCh38]
Chr11:2186944 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.91-851G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001971378] Chr11:2170722 [GRCh38]
Chr11:2191952 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.541A>T (p.Thr181Ser) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001970796] Chr11:2168126 [GRCh38]
Chr11:2189356 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1162T>C (p.Tyr388His) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001823585] Chr11:2165706 [GRCh38]
Chr11:2186936 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1125del (p.Glu375fs) deletion Autosomal recessive DOPA responsive dystonia [RCV001950773] Chr11:2165743 [GRCh38]
Chr11:2186973 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic
NM_000360.4(TH):c.217T>C (p.Phe73Leu) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002044017] Chr11:2169745 [GRCh38]
Chr11:2190975 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.779G>T (p.Arg260Leu) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002008748] Chr11:2166949 [GRCh38]
Chr11:2188179 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1104+4G>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001929429]|not provided [RCV004693985] Chr11:2165998 [GRCh38]
Chr11:2187228 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.50C>A (p.Ala17Asp) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001971601] Chr11:2171737 [GRCh38]
Chr11:2192967 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.245T>G (p.Leu82Arg) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001874373] Chr11:2169717 [GRCh38]
Chr11:2190947 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.394G>C (p.Val132Leu) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001970662] Chr11:2168584 [GRCh38]
Chr11:2189814 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1262C>T (p.Pro421Leu) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001950084] Chr11:2165304 [GRCh38]
Chr11:2186534 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.90G>A (p.Met30Ile) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001895709] Chr11:2171697 [GRCh38]
Chr11:2192927 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1354C>T (p.Gln452Ter) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001889566] Chr11:2164373 [GRCh38]
Chr11:2185603 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_000360.4(TH):c.649G>A (p.Asp217Asn) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001988353]|Inborn genetic diseases [RCV002579556]|not provided [RCV004784025] Chr11:2167481 [GRCh38]
Chr11:2188711 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.488-5T>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001863842] Chr11:2168184 [GRCh38]
Chr11:2189414 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_000360.4(TH):c.1399G>T (p.Asp467Tyr) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002044068] Chr11:2164328 [GRCh38]
Chr11:2185558 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.220G>C (p.Glu74Gln) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002024902] Chr11:2169742 [GRCh38]
Chr11:2190972 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.434T>A (p.Leu145His) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002024546] Chr11:2168544 [GRCh38]
Chr11:2189774 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1393G>A (p.Ala465Thr) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001872625] Chr11:2164334 [GRCh38]
Chr11:2185564 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.32C>G (p.Ala11Gly) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002003897] Chr11:2171755 [GRCh38]
Chr11:2192985 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1118C>T (p.Thr373Met) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001908846]|not provided [RCV004598159] Chr11:2165750 [GRCh38]
Chr11:2186980 [GRCh37]
Chr11:11p15.5		 conflicting interpretations of pathogenicity|uncertain significance
NM_000360.4(TH):c.713C>T (p.Thr238Met) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001967649] Chr11:2167015 [GRCh38]
Chr11:2188245 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1277C>T (p.Thr426Met) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002021563]|not provided [RCV004793711] Chr11:2165289 [GRCh38]
Chr11:2186519 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1105-1G>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001984058] Chr11:2165764 [GRCh38]
Chr11:2186994 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.445C>T (p.Arg149Cys) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001966911] Chr11:2168533 [GRCh38]
Chr11:2189763 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3 copy number gain not provided [RCV001825269] Chr11:230615..5525355 [GRCh37]
Chr11:11p15.5-15.4		 not provided
NM_000360.4(TH):c.891G>A (p.Arg297=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001890796] Chr11:2166719 [GRCh38]
Chr11:2187949 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_000360.4(TH):c.398G>T (p.Arg133Leu) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001967557] Chr11:2168580 [GRCh38]
Chr11:2189810 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1209G>A (p.Leu403=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001893938] Chr11:2165357 [GRCh38]
Chr11:2186587 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.628G>T (p.Ala210Ser) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001948824]|Inborn genetic diseases [RCV003355679] Chr11:2167882 [GRCh38]
Chr11:2189112 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.824T>G (p.Val275Gly) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001894009] Chr11:2166904 [GRCh38]
Chr11:2188134 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1122_1123delinsTT (p.Glu375Ter) indel Autosomal recessive DOPA responsive dystonia [RCV001946812] Chr11:2165745..2165746 [GRCh38]
Chr11:2186975..2186976 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic
GRCh37/hg19 11p15.5(chr11:1719815-2321109)x3 copy number gain not provided [RCV001827983] Chr11:1719815..2321109 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.778C>G (p.Arg260Gly) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001965100] Chr11:2166950 [GRCh38]
Chr11:2188180 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1335-9C>G single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001967464] Chr11:2164401 [GRCh38]
Chr11:2185631 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_000360.4(TH):c.574C>T (p.Pro192Ser) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001910776] Chr11:2168093 [GRCh38]
Chr11:2189323 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.644+20G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001893895] Chr11:2167846 [GRCh38]
Chr11:2189076 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_000360.4(TH):c.1047+1G>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002043113] Chr11:2166479 [GRCh38]
Chr11:2187709 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.1427G>A (p.Arg476Gln) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002043853]|Inborn genetic diseases [RCV005281111] Chr11:2164300 [GRCh38]
Chr11:2185530 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1334+10G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002006255] Chr11:2165222 [GRCh38]
Chr11:2186452 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.662G>A (p.Arg221His) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001965919] Chr11:2167468 [GRCh38]
Chr11:2188698 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_000360.4(TH):c.758A>T (p.Glu253Val) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002041489]|Inborn genetic diseases [RCV004038749] Chr11:2166970 [GRCh38]
Chr11:2188200 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1442G>T (p.Gly481Val) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001985214] Chr11:2164285 [GRCh38]
Chr11:2185515 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1288G>A (p.Val430Ile) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001943941] Chr11:2165278 [GRCh38]
Chr11:2186508 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.576+2T>G single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001999172] Chr11:2168089 [GRCh38]
Chr11:2189319 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.91-819G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001906864] Chr11:2170690 [GRCh38]
Chr11:2191920 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.58G>A (p.Glu20Lys) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001943186] Chr11:2171729 [GRCh38]
Chr11:2192959 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.823G>A (p.Val275Ile) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001999635] Chr11:2166905 [GRCh38]
Chr11:2188135 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1189G>A (p.Gly397Arg) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001999899] Chr11:2165679 [GRCh38]
Chr11:2186909 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic
NM_000360.4(TH):c.1105-7C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002031333] Chr11:2165770 [GRCh38]
Chr11:2187000 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1025G>T (p.Arg342Leu) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002020159]|Inborn genetic diseases [RCV004046036] Chr11:2166502 [GRCh38]
Chr11:2187732 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.374_387dup (p.Tyr130fs) duplication Autosomal recessive DOPA responsive dystonia [RCV001999835] Chr11:2168590..2168591 [GRCh38]
Chr11:2189820..2189821 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_000360.4(TH):c.340G>A (p.Glu114Lys) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001941361] Chr11:2168638 [GRCh38]
Chr11:2189868 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1229G>T (p.Arg410Leu) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001942917]|not provided [RCV004693945]|not specified [RCV003323950] Chr11:2165337 [GRCh38]
Chr11:2186567 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1156A>G (p.Lys386Glu) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001938178] Chr11:2165712 [GRCh38]
Chr11:2186942 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1440G>T (p.Glu480Asp) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002037436] Chr11:2164287 [GRCh38]
Chr11:2185517 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.576+3G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001917471] Chr11:2168088 [GRCh38]
Chr11:2189318 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.577G>A (p.Gly193Ser) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002047806] Chr11:2167933 [GRCh38]
Chr11:2189163 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.312+6C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002029204] Chr11:2169644 [GRCh38]
Chr11:2190874 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.91-20_91-10del deletion Autosomal recessive DOPA responsive dystonia [RCV001942581] Chr11:2169881..2169891 [GRCh38]
Chr11:2191111..2191121 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1394C>T (p.Ala465Val) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002030524] Chr11:2164333 [GRCh38]
Chr11:2185563 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.841+3G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001903066] Chr11:2166884 [GRCh38]
Chr11:2188114 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.281C>A (p.Ser94Ter) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001878783] Chr11:2169681 [GRCh38]
Chr11:2190911 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_000360.4(TH):c.841+1G>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002011534] Chr11:2166886 [GRCh38]
Chr11:2188116 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.1171G>C (p.Gly391Arg) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001933549] Chr11:2165697 [GRCh38]
Chr11:2186927 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.392T>C (p.Phe131Ser) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001881573] Chr11:2168586 [GRCh38]
Chr11:2189816 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.298G>A (p.Val100Met) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001899131]|Inborn genetic diseases [RCV003303354] Chr11:2169664 [GRCh38]
Chr11:2190894 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.727T>C (p.Tyr243His) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002026866] Chr11:2167001 [GRCh38]
Chr11:2188231 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1429C>T (p.Arg477Cys) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002015069] Chr11:2164298 [GRCh38]
Chr11:2185528 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1151A>G (p.Glu384Gly) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001996220] Chr11:2165717 [GRCh38]
Chr11:2186947 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.385G>A (p.Glu129Lys) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001919604] Chr11:2168593 [GRCh38]
Chr11:2189823 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.386A>C (p.Glu129Ala) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001934187]|Inborn genetic diseases [RCV004681342] Chr11:2168592 [GRCh38]
Chr11:2189822 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1138A>T (p.Lys380Ter) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001904337] Chr11:2165730 [GRCh38]
Chr11:2186960 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_000360.4(TH):c.331C>T (p.His111Tyr) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001918260] Chr11:2168647 [GRCh38]
Chr11:2189877 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.780del (p.Phe261fs) deletion Autosomal recessive DOPA responsive dystonia [RCV001993082] Chr11:2166948 [GRCh38]
Chr11:2188178 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_000360.4(TH):c.584C>A (p.Ser195Ter) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001953643] Chr11:2167926 [GRCh38]
Chr11:2189156 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_000360.4(TH):c.1210_1213del (p.Ser404fs) deletion Autosomal recessive DOPA responsive dystonia [RCV001957338] Chr11:2165353..2165356 [GRCh38]
Chr11:2186583..2186586 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_000360.4(TH):c.1201-2_1201-1delinsCC indel Autosomal recessive DOPA responsive dystonia [RCV002026426] Chr11:2165366..2165367 [GRCh38]
Chr11:2186596..2186597 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.829C>A (p.Arg277Ser) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002030373] Chr11:2166899 [GRCh38]
Chr11:2188129 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1024C>T (p.Arg342Cys) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001878555] Chr11:2166503 [GRCh38]
Chr11:2187733 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1459G>C (p.Asp487His) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001866973] Chr11:2164268 [GRCh38]
Chr11:2185498 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.9:g.(?_2187460)_(2191953_?)del deletion Autosomal recessive DOPA responsive dystonia [RCV001951498] Chr11:2187460..2191953 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_000360.4(TH):c.1324G>C (p.Asp442His) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002010157] Chr11:2165242 [GRCh38]
Chr11:2186472 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.9:g.(?_2181023)_(2193087_?)del deletion Autosomal recessive DOPA responsive dystonia [RCV001972592] Chr11:2181023..2193087 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_000360.4(TH):c.1410C>T (p.Asp470=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001923854] Chr11:2164317 [GRCh38]
Chr11:2185547 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1038G>C (p.Gln346His) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002050674] Chr11:2166489 [GRCh38]
Chr11:2187719 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.91-897C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001989800] Chr11:2170768 [GRCh38]
Chr11:2191998 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_000360.4(TH):c.337C>G (p.Leu113Val) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001883265] Chr11:2168641 [GRCh38]
Chr11:2189871 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.384G>A (p.Leu128=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001932559] Chr11:2168594 [GRCh38]
Chr11:2189824 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_000360.4(TH):c.900G>A (p.Leu300=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001931599] Chr11:2166710 [GRCh38]
Chr11:2187940 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_000360.4(TH):c.1357C>T (p.Arg453Cys) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002032110] Chr11:2164370 [GRCh38]
Chr11:2185600 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.427G>A (p.Ala143Thr) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001981997] Chr11:2168551 [GRCh38]
Chr11:2189781 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1271A>C (p.Asp424Ala) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002030118] Chr11:2165295 [GRCh38]
Chr11:2186525 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.286_312+18dup duplication Autosomal recessive DOPA responsive dystonia [RCV001955036] Chr11:2169631..2169632 [GRCh38]
Chr11:2190861..2190862 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.680A>C (p.Glu227Ala) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001878224] Chr11:2167450 [GRCh38]
Chr11:2188680 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1401C>A (p.Asp467Glu) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001899925] Chr11:2164326 [GRCh38]
Chr11:2185556 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1237G>A (p.Asp413Asn) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001906719] Chr11:2165329 [GRCh38]
Chr11:2186559 [GRCh37]
Chr11:11p15.5		 benign|uncertain significance
NM_000360.4(TH):c.120C>A (p.Ser40Arg) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001883661] Chr11:2169842 [GRCh38]
Chr11:2191072 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.535C>T (p.Leu179=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001956496] Chr11:2168132 [GRCh38]
Chr11:2189362 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1010C>T (p.Pro337Leu) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001905059] Chr11:2166517 [GRCh38]
Chr11:2187747 [GRCh37]
Chr11:11p15.5		 conflicting interpretations of pathogenicity|uncertain significance
NM_000360.4(TH):c.1201-1G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001959523] Chr11:2165366 [GRCh38]
Chr11:2186596 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NC_000011.9:g.(?_2191910)_(2193087_?)del deletion Autosomal recessive DOPA responsive dystonia [RCV001956404] Chr11:2191910..2193087 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_000360.4(TH):c.90+29C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001918511] Chr11:2171668 [GRCh38]
Chr11:2192898 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.284C>A (p.Ala95Glu) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001867684] Chr11:2169678 [GRCh38]
Chr11:2190908 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1426C>T (p.Arg476Trp) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001901404] Chr11:2164301 [GRCh38]
Chr11:2185531 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1201-10C>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV001931034] Chr11:2165375 [GRCh38]
Chr11:2186605 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_000360.4(TH):c.1104+9A>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002192102] Chr11:2165993 [GRCh38]
Chr11:2187223 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.695+12G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002144854] Chr11:2167423 [GRCh38]
Chr11:2188653 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.842-17C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002111902] Chr11:2166785 [GRCh38]
Chr11:2188015 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.810C>G (p.Pro270=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002104407] Chr11:2166918 [GRCh38]
Chr11:2188148 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1146C>T (p.Asn382=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002109435] Chr11:2165722 [GRCh38]
Chr11:2186952 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.644+19C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002091580] Chr11:2167847 [GRCh38]
Chr11:2189077 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.312+17C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002125209] Chr11:2169633 [GRCh38]
Chr11:2190863 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1487T>C (p.Ile496Thr) single nucleotide variant not provided [RCV002211174] Chr11:2164240 [GRCh38]
Chr11:2185470 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1335-13C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002187336] Chr11:2164405 [GRCh38]
Chr11:2185635 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.91-15C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002126398] Chr11:2169886 [GRCh38]
Chr11:2191116 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1149G>C (p.Gly383=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002111381] Chr11:2165719 [GRCh38]
Chr11:2186949 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.644+15C>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002129725] Chr11:2167851 [GRCh38]
Chr11:2189081 [GRCh37]
Chr11:11p15.5		 benign
NM_000360.4(TH):c.90+23G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002169984] Chr11:2171674 [GRCh38]
Chr11:2192904 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.204G>A (p.Leu68=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002191025] Chr11:2169758 [GRCh38]
Chr11:2190988 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1101C>A (p.Ser367=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002075814] Chr11:2166005 [GRCh38]
Chr11:2187235 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.577-13C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002112409] Chr11:2167946 [GRCh38]
Chr11:2189176 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.91-4A>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002185058] Chr11:2169875 [GRCh38]
Chr11:2191105 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.432G>T (p.Leu144=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002127033] Chr11:2168546 [GRCh38]
Chr11:2189776 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.91-16C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002108766] Chr11:2169887 [GRCh38]
Chr11:2191117 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1290C>G (p.Val430=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002107528] Chr11:2165276 [GRCh38]
Chr11:2186506 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1032C>T (p.Phe344=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002207552]|not specified [RCV005238224] Chr11:2166495 [GRCh38]
Chr11:2187725 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.907C>T (p.Leu303=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002110277] Chr11:2166703 [GRCh38]
Chr11:2187933 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1105-13G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002207647] Chr11:2165776 [GRCh38]
Chr11:2187006 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.90+22C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002125847] Chr11:2171675 [GRCh38]
Chr11:2192905 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.90+907A>G single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002189548] Chr11:2170790 [GRCh38]
Chr11:2192020 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.576+12G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002107784] Chr11:2168079 [GRCh38]
Chr11:2189309 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1200+11C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002088486] Chr11:2165657 [GRCh38]
Chr11:2186887 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1320C>T (p.Ala440=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002110989] Chr11:2165246 [GRCh38]
Chr11:2186476 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1200+7G>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002185260] Chr11:2165661 [GRCh38]
Chr11:2186891 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.91-800T>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002127931] Chr11:2170671 [GRCh38]
Chr11:2191901 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.309T>C (p.Phe103=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002087226] Chr11:2169653 [GRCh38]
Chr11:2190883 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.576+11C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002077402] Chr11:2168080 [GRCh38]
Chr11:2189310 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1077G>C (p.Ser359=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002093986] Chr11:2166029 [GRCh38]
Chr11:2187259 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.108G>T (p.Gly36=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002117029] Chr11:2169854 [GRCh38]
Chr11:2191084 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.297T>C (p.Ala99=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002215976] Chr11:2169665 [GRCh38]
Chr11:2190895 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.165A>G (p.Ala55=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002170359] Chr11:2169797 [GRCh38]
Chr11:2191027 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1335-11C>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002078515] Chr11:2164403 [GRCh38]
Chr11:2185633 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.842-14G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002086769] Chr11:2166782 [GRCh38]
Chr11:2188012 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.313-15C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002107638] Chr11:2168680 [GRCh38]
Chr11:2189910 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.642G>A (p.Arg214=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002131019] Chr11:2167868 [GRCh38]
Chr11:2189098 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.842-12G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002077976] Chr11:2166780 [GRCh38]
Chr11:2188010 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.91-897C>G single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002093824] Chr11:2170768 [GRCh38]
Chr11:2191998 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.695+12G>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002111450] Chr11:2167423 [GRCh38]
Chr11:2188653 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.841+9A>G single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002213677] Chr11:2166878 [GRCh38]
Chr11:2188108 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.841+15G>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002171287] Chr11:2166872 [GRCh38]
Chr11:2188102 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.282G>A (p.Ser94=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002096443]|not provided [RCV003456518] Chr11:2169680 [GRCh38]
Chr11:2190910 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.487+9G>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002173404] Chr11:2168482 [GRCh38]
Chr11:2189712 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.759G>A (p.Glu253=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002097148] Chr11:2166969 [GRCh38]
Chr11:2188199 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.645-18C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002214600] Chr11:2167503 [GRCh38]
Chr11:2188733 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1257G>A (p.Val419=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002173141] Chr11:2165309 [GRCh38]
Chr11:2186539 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.487+14C>G single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002079101] Chr11:2168477 [GRCh38]
Chr11:2189707 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1047+16G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002132318] Chr11:2166464 [GRCh38]
Chr11:2187694 [GRCh37]
Chr11:11p15.5		 benign
NM_000360.4(TH):c.559C>T (p.Leu187=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002197386] Chr11:2168108 [GRCh38]
Chr11:2189338 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.695+15C>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002094475] Chr11:2167420 [GRCh38]
Chr11:2188650 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.717G>A (p.Leu239=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002133051] Chr11:2167011 [GRCh38]
Chr11:2188241 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1200+7G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002186911] Chr11:2165661 [GRCh38]
Chr11:2186891 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.894C>T (p.Asp298=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002126031] Chr11:2166716 [GRCh38]
Chr11:2187946 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1326C>T (p.Asp442=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002189768] Chr11:2165240 [GRCh38]
Chr11:2186470 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.90+22C>G single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002094631] Chr11:2171675 [GRCh38]
Chr11:2192905 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1203C>T (p.His401=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002076256] Chr11:2165363 [GRCh38]
Chr11:2186593 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.123C>T (p.Leu41=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002214028] Chr11:2169839 [GRCh38]
Chr11:2191069 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.912C>T (p.Ala304=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002092772] Chr11:2166698 [GRCh38]
Chr11:2187928 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.644+15C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002115467] Chr11:2167851 [GRCh38]
Chr11:2189081 [GRCh37]
Chr11:11p15.5		 benign
NM_000360.4(TH):c.1105-14C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002076852] Chr11:2165777 [GRCh38]
Chr11:2187007 [GRCh37]
Chr11:11p15.5		 benign
NM_000360.4(TH):c.695+14G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002095517] Chr11:2167421 [GRCh38]
Chr11:2188651 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.90+30G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002094159] Chr11:2171667 [GRCh38]
Chr11:2192897 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1008G>A (p.Val336=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002194925] Chr11:2166519 [GRCh38]
Chr11:2187749 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.91-17G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002106076] Chr11:2169888 [GRCh38]
Chr11:2191118 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.702G>A (p.Glu234=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002096277] Chr11:2167026 [GRCh38]
Chr11:2188256 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.993G>A (p.Glu331=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002130068] Chr11:2166534 [GRCh38]
Chr11:2187764 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.960C>A (p.Pro320=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002173315] Chr11:2166650 [GRCh38]
Chr11:2187880 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1347A>C (p.Ser449=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002096313] Chr11:2164380 [GRCh38]
Chr11:2185610 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.78A>G (p.Ala26=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002097099] Chr11:2171709 [GRCh38]
Chr11:2192939 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.810C>T (p.Pro270=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002076946] Chr11:2166918 [GRCh38]
Chr11:2188148 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.978-14C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002145450] Chr11:2166563 [GRCh38]
Chr11:2187793 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1048-8C>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002150791] Chr11:2166066 [GRCh38]
Chr11:2187296 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.15C>T (p.Asp5=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002079760] Chr11:2171772 [GRCh38]
Chr11:2193002 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.738C>T (p.His246=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002194006] Chr11:2166990 [GRCh38]
Chr11:2188220 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.695+13T>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002150890] Chr11:2167422 [GRCh38]
Chr11:2188652 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.207G>A (p.Glu69=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002197876] Chr11:2169755 [GRCh38]
Chr11:2190985 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1473T>C (p.His491=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002117751] Chr11:2164254 [GRCh38]
Chr11:2185484 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.644+9C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002098235] Chr11:2167857 [GRCh38]
Chr11:2189087 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.90+27G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002102743] Chr11:2171670 [GRCh38]
Chr11:2192900 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.369T>G (p.Ala123=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002141899] Chr11:2168609 [GRCh38]
Chr11:2189839 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1061C>T (p.Ala354Val) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003475306]|not provided [RCV002466745]|not specified [RCV002222933] Chr11:2166045 [GRCh38]
Chr11:2187275 [GRCh37]
Chr11:11p15.5		 likely pathogenic|uncertain significance
NM_000360.4(TH):c.977+18C>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002218449] Chr11:2166615 [GRCh38]
Chr11:2187845 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.378C>A (p.Pro126=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002201537] Chr11:2168600 [GRCh38]
Chr11:2189830 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1200+8T>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002097891] Chr11:2165660 [GRCh38]
Chr11:2186890 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1200+8T>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002159865] Chr11:2165660 [GRCh38]
Chr11:2186890 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.978-8A>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002216719] Chr11:2166557 [GRCh38]
Chr11:2187787 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.696-4G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002163352] Chr11:2167036 [GRCh38]
Chr11:2188266 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.315G>A (p.Thr105=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002083650] Chr11:2168663 [GRCh38]
Chr11:2189893 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.747G>A (p.Gly249=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002163755] Chr11:2166981 [GRCh38]
Chr11:2188211 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.576+16dup duplication Autosomal recessive DOPA responsive dystonia [RCV002118182] Chr11:2168074..2168075 [GRCh38]
Chr11:2189304..2189305 [GRCh37]
Chr11:11p15.5		 benign
NM_000360.4(TH):c.795G>T (p.Arg265=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002183519] Chr11:2166933 [GRCh38]
Chr11:2188163 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.156G>T (p.Ala52=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002204410] Chr11:2169806 [GRCh38]
Chr11:2191036 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.51C>G (p.Ala17=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002164376] Chr11:2171736 [GRCh38]
Chr11:2192966 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1104+11C>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002184116] Chr11:2165991 [GRCh38]
Chr11:2187221 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.558C>T (p.Asp186=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002143971] Chr11:2168109 [GRCh38]
Chr11:2189339 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1435C>T (p.Leu479=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002199772] Chr11:2164292 [GRCh38]
Chr11:2185522 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.978-5C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002179034] Chr11:2166554 [GRCh38]
Chr11:2187784 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1272C>T (p.Asp424=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002156023] Chr11:2165294 [GRCh38]
Chr11:2186524 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.695+11C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002083685] Chr11:2167424 [GRCh38]
Chr11:2188654 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1335-14G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002161463] Chr11:2164406 [GRCh38]
Chr11:2185636 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.364C>A (p.Arg122=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002156496] Chr11:2168614 [GRCh38]
Chr11:2189844 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1201-16A>G single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002098738] Chr11:2165381 [GRCh38]
Chr11:2186611 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.695+8C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002183217] Chr11:2167427 [GRCh38]
Chr11:2188657 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1105-12G>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002217414] Chr11:2165775 [GRCh38]
Chr11:2187005 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1359C>T (p.Arg453=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002099059] Chr11:2164368 [GRCh38]
Chr11:2185598 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.807C>T (p.Ile269=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002160293] Chr11:2166921 [GRCh38]
Chr11:2188151 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.91-8C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002138979] Chr11:2169879 [GRCh38]
Chr11:2191109 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.678C>G (p.Ala226=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002203174] Chr11:2167452 [GRCh38]
Chr11:2188682 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.375C>G (p.Gly125=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002203202] Chr11:2168603 [GRCh38]
Chr11:2189833 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.487+8G>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002183159] Chr11:2168483 [GRCh38]
Chr11:2189713 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.255C>T (p.Leu85=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002220704] Chr11:2169707 [GRCh38]
Chr11:2190937 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1047+8G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002159705] Chr11:2166472 [GRCh38]
Chr11:2187702 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.978-7C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002198622] Chr11:2166556 [GRCh38]
Chr11:2187786 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.867T>A (p.Pro289=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002181743] Chr11:2166743 [GRCh38]
Chr11:2187973 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1048-7T>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002120948] Chr11:2166065 [GRCh38]
Chr11:2187295 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.644+15C>G single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002101463] Chr11:2167851 [GRCh38]
Chr11:2189081 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.69C>T (p.Ala23=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002101785] Chr11:2171718 [GRCh38]
Chr11:2192948 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1344C>T (p.Ala448=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003111985] Chr11:2164383 [GRCh38]
Chr11:2185613 [GRCh37]
Chr11:11p15.5		 likely benign
NC_000011.9:g.(?_2186878)_(2193016_?)del deletion Autosomal recessive DOPA responsive dystonia [RCV003113997] Chr11:2186878..2193016 [GRCh37]
Chr11:11p15.5		 pathogenic
NC_000011.9:g.(?_2187222)_(2188272_?)del deletion Autosomal recessive DOPA responsive dystonia [RCV003113998] Chr11:2187222..2188272 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_000360.4(TH):c.978-13C>G single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003115050] Chr11:2166562 [GRCh38]
Chr11:2187792 [GRCh37]
Chr11:11p15.5		 likely benign
NC_000011.9:g.(?_1278740)_(2906719_?)dup duplication Autosomal recessive DOPA responsive dystonia [RCV003113999] Chr11:1278740..2906719 [GRCh37]
Chr11:11p15.5-15.4		 uncertain significance
NC_000011.9:g.(?_721044)_(3988932_?)dup duplication not provided [RCV003113442] Chr11:721044..3988932 [GRCh37]
Chr11:11p15.5-15.4		 uncertain significance
NM_000360.4(TH):c.1072G>A (p.Ala358Thr) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003118905] Chr11:2166034 [GRCh38]
Chr11:2187264 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.818A>G (p.Glu273Gly) single nucleotide variant not provided [RCV003149462] Chr11:2166910 [GRCh38]
Chr11:2188140 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3 copy number gain See cases [RCV002286351] Chr11:230615..26881146 [GRCh37]
Chr11:11p15.5-14.2		 pathogenic
NM_000360.4(TH):c.696-4_696-3delinsTT indel not provided [RCV002275960] Chr11:2167035..2167036 [GRCh38]
Chr11:2188265..2188266 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.44G>T (p.Arg15Leu) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002288269] Chr11:2171743 [GRCh38]
Chr11:2192973 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5(chr11:1621232-2228572) copy number gain Beckwith-Wiedemann syndrome [RCV002280763] Chr11:1621232..2228572 [GRCh37]
Chr11:11p15.5		 pathogenic
NC_000011.10:g.(499700_4999400)_(5279346_5279697)del deletion Thalassemia, gamma-delta-beta [RCV000015529] Chr11:4999400..5279346 [GRCh38]
Chr11:11p15.5-15.4		 pathogenic
NM_000360.4(TH):c.469delinsCTCACCCTTGG (p.Ser157fs) indel Autosomal recessive DOPA responsive dystonia [RCV002308261] Chr11:2168509 [GRCh38]
Chr11:2189739 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.354_370del (p.Gln119fs) deletion Autosomal recessive DOPA responsive dystonia [RCV002309930] Chr11:2168608..2168624 [GRCh38]
Chr11:2189838..2189854 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.792C>G (p.Tyr264Ter) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002309950] Chr11:2166936 [GRCh38]
Chr11:2188166 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.811C>T (p.Gln271Ter) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002306620] Chr11:2166917 [GRCh38]
Chr11:2188147 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.56C>G (p.Ser19Cys) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002295375]|not specified [RCV002300670] Chr11:2171731 [GRCh38]
Chr11:2192961 [GRCh37]
Chr11:11p15.5		 likely pathogenic|uncertain significance
NM_000360.4(TH):c.548dup (p.Asp184fs) duplication Autosomal recessive DOPA responsive dystonia [RCV002307086] Chr11:2168118..2168119 [GRCh38]
Chr11:2189348..2189349 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.748del (p.Glu250fs) deletion Autosomal recessive DOPA responsive dystonia [RCV002306717] Chr11:2166980 [GRCh38]
Chr11:2188210 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.839_840insCC (p.Lys280fs) insertion Autosomal recessive DOPA responsive dystonia [RCV002308249] Chr11:2166888..2166889 [GRCh38]
Chr11:2188118..2188119 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.523A>T (p.Lys175Ter) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002309020] Chr11:2168144 [GRCh38]
Chr11:2189374 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.634C>T (p.Gln212Ter) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002309434] Chr11:2167876 [GRCh38]
Chr11:2189106 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.291_292del (p.Arg98fs) deletion Autosomal recessive DOPA responsive dystonia [RCV002309019] Chr11:2169670..2169671 [GRCh38]
Chr11:2190900..2190901 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.835dup (p.Leu279fs) duplication Autosomal recessive DOPA responsive dystonia [RCV002307050] Chr11:2166892..2166893 [GRCh38]
Chr11:2188122..2188123 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.328del (p.Ile110fs) deletion Autosomal recessive DOPA responsive dystonia [RCV002306643] Chr11:2168650 [GRCh38]
Chr11:2189880 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.633C>A (p.Phe211Leu) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002815845] Chr11:2167877 [GRCh38]
Chr11:2189107 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.480G>A (p.Gly160=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002993635] Chr11:2168498 [GRCh38]
Chr11:2189728 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1453G>A (p.Glu485Lys) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003095607] Chr11:2164274 [GRCh38]
Chr11:2185504 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.885C>A (p.Ser295=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002750776] Chr11:2166725 [GRCh38]
Chr11:2187955 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.446G>A (p.Arg149His) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003074549] Chr11:2168532 [GRCh38]
Chr11:2189762 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.91-893C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003032746] Chr11:2170764 [GRCh38]
Chr11:2191994 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.827C>A (p.Ser276Tyr) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002685854] Chr11:2166901 [GRCh38]
Chr11:2188131 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.1369G>A (p.Val457Met) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002995822] Chr11:2164358 [GRCh38]
Chr11:2185588 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.90+9G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002815242] Chr11:2171688 [GRCh38]
Chr11:2192918 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1407G>A (p.Leu469=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002994501] Chr11:2164320 [GRCh38]
Chr11:2185550 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.51del (p.Val18fs) deletion Autosomal recessive DOPA responsive dystonia [RCV003014555] Chr11:2171736 [GRCh38]
Chr11:2192966 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic
NM_000360.4(TH):c.397C>T (p.Arg133Cys) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002947347]|Inborn genetic diseases [RCV005288850] Chr11:2168581 [GRCh38]
Chr11:2189811 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.46A>G (p.Arg16Gly) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002730799] Chr11:2171741 [GRCh38]
Chr11:2192971 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.409C>T (p.Arg137Cys) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003077096]|not provided [RCV004779423] Chr11:2168569 [GRCh38]
Chr11:2189799 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.577-22_577-5del deletion Autosomal recessive DOPA responsive dystonia [RCV002843671] Chr11:2167938..2167955 [GRCh38]
Chr11:2189168..2189185 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.417G>C (p.Gly139=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002908565] Chr11:2168561 [GRCh38]
Chr11:2189791 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.577-2A>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002843670] Chr11:2167935 [GRCh38]
Chr11:2189165 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.564C>T (p.Asp188=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002904854] Chr11:2168103 [GRCh38]
Chr11:2189333 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.151G>A (p.Ala51Thr) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002775607] Chr11:2169811 [GRCh38]
Chr11:2191041 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.475G>A (p.Ala159Thr) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002967676] Chr11:2168503 [GRCh38]
Chr11:2189733 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.739_743dup (p.Cys248fs) duplication Autosomal recessive DOPA responsive dystonia [RCV003032358] Chr11:2166984..2166985 [GRCh38]
Chr11:2188214..2188215 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_000360.4(TH):c.950C>A (p.Ala317Glu) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002907783] Chr11:2166660 [GRCh38]
Chr11:2187890 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.90+913C>G single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002775904] Chr11:2170784 [GRCh38]
Chr11:2192014 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.352G>T (p.Ala118Ser) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003095686] Chr11:2168626 [GRCh38]
Chr11:2189856 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.489C>A (p.Val163=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002863815] Chr11:2168178 [GRCh38]
Chr11:2189408 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1200+5G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003033542] Chr11:2165663 [GRCh38]
Chr11:2186893 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.778del (p.Arg260fs) deletion Autosomal recessive DOPA responsive dystonia [RCV002881694] Chr11:2166950 [GRCh38]
Chr11:2188180 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_000360.4(TH):c.225G>T (p.Glu75Asp) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002615416] Chr11:2169737 [GRCh38]
Chr11:2190967 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.977+1del deletion Autosomal recessive DOPA responsive dystonia [RCV002881195] Chr11:2166632 [GRCh38]
Chr11:2187862 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.357G>A (p.Gln119=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002908209] Chr11:2168621 [GRCh38]
Chr11:2189851 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.91-5C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002640587] Chr11:2169876 [GRCh38]
Chr11:2191106 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.652C>T (p.Pro218Ser) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003055520] Chr11:2167478 [GRCh38]
Chr11:2188708 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.476C>T (p.Ala159Val) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002636754] Chr11:2168502 [GRCh38]
Chr11:2189732 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.359G>A (p.Arg120Lys) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002705690] Chr11:2168619 [GRCh38]
Chr11:2189849 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.957G>A (p.Ser319=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002571097] Chr11:2166653 [GRCh38]
Chr11:2187883 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.525G>A (p.Lys175=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003038334] Chr11:2168142 [GRCh38]
Chr11:2189372 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1341T>A (p.Tyr447Ter) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002885995] Chr11:2164386 [GRCh38]
Chr11:2185616 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_000360.4(TH):c.42C>G (p.Phe14Leu) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002620306] Chr11:2171745 [GRCh38]
Chr11:2192975 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1240C>T (p.Pro414Ser) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002796722] Chr11:2165326 [GRCh38]
Chr11:2186556 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.90+9G>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002885040] Chr11:2171688 [GRCh38]
Chr11:2192918 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1476G>T (p.Ala492=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002620671] Chr11:2164251 [GRCh38]
Chr11:2185481 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.312+19T>G single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002705732] Chr11:2169631 [GRCh38]
Chr11:2190861 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1318G>A (p.Ala440Thr) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002909358] Chr11:2165248 [GRCh38]
Chr11:2186478 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.909G>C (p.Leu303=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002912610] Chr11:2166701 [GRCh38]
Chr11:2187931 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.293G>A (p.Arg98Gln) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002638585] Chr11:2169669 [GRCh38]
Chr11:2190899 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.864G>A (p.Arg288=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002795514] Chr11:2166746 [GRCh38]
Chr11:2187976 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.577-15C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002795201] Chr11:2167948 [GRCh38]
Chr11:2189178 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.138dup (p.Lys47fs) duplication Autosomal recessive DOPA responsive dystonia [RCV003018608] Chr11:2169823..2169824 [GRCh38]
Chr11:2191053..2191054 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_000360.4(TH):c.91-810G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003036202] Chr11:2170681 [GRCh38]
Chr11:2191911 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.900G>C (p.Leu300=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002761247] Chr11:2166710 [GRCh38]
Chr11:2187940 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.767C>T (p.Ala256Val) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003038517] Chr11:2166961 [GRCh38]
Chr11:2188191 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.777G>A (p.Glu259=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002621346] Chr11:2166951 [GRCh38]
Chr11:2188181 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.312+18G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002638516] Chr11:2169632 [GRCh38]
Chr11:2190862 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.982_991del (p.Cys328fs) deletion Autosomal recessive DOPA responsive dystonia [RCV002846820] Chr11:2166536..2166545 [GRCh38]
Chr11:2187766..2187775 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_000360.4(TH):c.205G>A (p.Glu69Lys) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002637844] Chr11:2169757 [GRCh38]
Chr11:2190987 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1047G>A (p.Gln349=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003053164] Chr11:2166480 [GRCh38]
Chr11:2187710 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.91-801C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002866579] Chr11:2170672 [GRCh38]
Chr11:2191902 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.901G>T (p.Ala301Ser) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003020732] Chr11:2166709 [GRCh38]
Chr11:2187939 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1490G>T (p.Gly497Val) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003002507] Chr11:2164237 [GRCh38]
Chr11:2185467 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.413G>A (p.Arg138Gln) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002736515]|Inborn genetic diseases [RCV005288809] Chr11:2168565 [GRCh38]
Chr11:2189795 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.577-2A>G single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002848382] Chr11:2167935 [GRCh38]
Chr11:2189165 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.463G>A (p.Val155Met) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002886252] Chr11:2168515 [GRCh38]
Chr11:2189745 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.744C>T (p.Cys248=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003077145] Chr11:2166984 [GRCh38]
Chr11:2188214 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.576+7G>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002636982] Chr11:2168084 [GRCh38]
Chr11:2189314 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.91-833dup duplication Autosomal recessive DOPA responsive dystonia [RCV002796916] Chr11:2170703..2170704 [GRCh38]
Chr11:2191933..2191934 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_000360.4(TH):c.1044G>T (p.Ser348=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002917660] Chr11:2166483 [GRCh38]
Chr11:2187713 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1147G>A (p.Gly383Arg) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002985658] Chr11:2165721 [GRCh38]
Chr11:2186951 [GRCh37]
Chr11:11p15.5		 conflicting interpretations of pathogenicity|uncertain significance
NM_000360.4(TH):c.1252dup (p.Ala418fs) duplication Autosomal recessive DOPA responsive dystonia [RCV002932749] Chr11:2165313..2165314 [GRCh38]
Chr11:2186543..2186544 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_000360.4(TH):c.473C>T (p.Pro158Leu) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003085928] Chr11:2168505 [GRCh38]
Chr11:2189735 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.412C>T (p.Arg138Ter) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002624255]|not provided [RCV004719299] Chr11:2168566 [GRCh38]
Chr11:2189796 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic
NM_000360.4(TH):c.696-14C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002918615] Chr11:2167046 [GRCh38]
Chr11:2188276 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.82G>C (p.Ala28Pro) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002828196] Chr11:2171705 [GRCh38]
Chr11:2192935 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1383G>C (p.Pro461=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002802164] Chr11:2164344 [GRCh38]
Chr11:2185574 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.152C>T (p.Ala51Val) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002643690] Chr11:2169810 [GRCh38]
Chr11:2191040 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.263del (p.Pro88fs) deletion Autosomal recessive DOPA responsive dystonia [RCV003041879] Chr11:2169699 [GRCh38]
Chr11:2190929 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_000360.4(TH):c.889C>T (p.Arg297Trp) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003058271] Chr11:2166721 [GRCh38]
Chr11:2187951 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.550G>C (p.Asp184His) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002595191] Chr11:2168117 [GRCh38]
Chr11:2189347 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1479G>A (p.Leu493=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002593765] Chr11:2164248 [GRCh38]
Chr11:2185478 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1032C>G (p.Phe344Leu) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002593546]|not provided [RCV004809847] Chr11:2166495 [GRCh38]
Chr11:2187725 [GRCh37]
Chr11:11p15.5		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000360.4(TH):c.678C>A (p.Ala226=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002929038] Chr11:2167452 [GRCh38]
Chr11:2188682 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.447C>T (p.Arg149=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002933055] Chr11:2168531 [GRCh38]
Chr11:2189761 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.577-12C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002575380] Chr11:2167945 [GRCh38]
Chr11:2189175 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.91-856C>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002914708] Chr11:2170727 [GRCh38]
Chr11:2191957 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.298G>C (p.Val100Leu) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003085707] Chr11:2169664 [GRCh38]
Chr11:2190894 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.109C>T (p.Arg37Cys) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002890925]|Inborn genetic diseases [RCV004681559] Chr11:2169853 [GRCh38]
Chr11:2191083 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.91-849C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002765403] Chr11:2170720 [GRCh38]
Chr11:2191950 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1048-5C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002985370] Chr11:2166063 [GRCh38]
Chr11:2187293 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1236C>A (p.Phe412Leu) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003085559] Chr11:2165330 [GRCh38]
Chr11:2186560 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1104+3G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003058937] Chr11:2165999 [GRCh38]
Chr11:2187229 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1378G>A (p.Asp460Asn) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002623591]|not provided [RCV004794610] Chr11:2164349 [GRCh38]
Chr11:2185579 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.576+6T>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002574417] Chr11:2168085 [GRCh38]
Chr11:2189315 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.16G>T (p.Ala6Ser) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002644011] Chr11:2171771 [GRCh38]
Chr11:2193001 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1445T>C (p.Val482Ala) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003085516] Chr11:2164282 [GRCh38]
Chr11:2185512 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.862C>T (p.Arg288Trp) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003085266] Chr11:2166748 [GRCh38]
Chr11:2187978 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.467G>A (p.Arg156His) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003082252] Chr11:2168511 [GRCh38]
Chr11:2189741 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.837del (p.Lys280fs) deletion Autosomal recessive DOPA responsive dystonia [RCV002853217] Chr11:2166891 [GRCh38]
Chr11:2188121 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_000360.4(TH):c.403G>A (p.Glu135Lys) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002720542] Chr11:2168575 [GRCh38]
Chr11:2189805 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.549C>G (p.Phe183Leu) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003091962] Chr11:2168118 [GRCh38]
Chr11:2189348 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.146G>A (p.Arg49Gln) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003060682] Chr11:2169816 [GRCh38]
Chr11:2191046 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1104+6T>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002598094] Chr11:2165996 [GRCh38]
Chr11:2187226 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1104+4G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003064732] Chr11:2165998 [GRCh38]
Chr11:2187228 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1285T>C (p.Ser429Pro) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002937479] Chr11:2165281 [GRCh38]
Chr11:2186511 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.487+7C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003065061] Chr11:2168484 [GRCh38]
Chr11:2189714 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.91-847C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003061460] Chr11:2170718 [GRCh38]
Chr11:2191948 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.647G>A (p.Gly216Asp) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002647259] Chr11:2167483 [GRCh38]
Chr11:2188713 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.609G>A (p.Arg203=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003086040] Chr11:2167901 [GRCh38]
Chr11:2189131 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.314C>T (p.Thr105Met) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003065489] Chr11:2168664 [GRCh38]
Chr11:2189894 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.661C>T (p.Arg221Cys) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002715296] Chr11:2167469 [GRCh38]
Chr11:2188699 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.876C>T (p.Gly292=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003045151] Chr11:2166734 [GRCh38]
Chr11:2187964 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1242T>C (p.Pro414=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002629260] Chr11:2165324 [GRCh38]
Chr11:2186554 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.11C>T (p.Pro4Leu) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003028930] Chr11:2171776 [GRCh38]
Chr11:2193006 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1390C>G (p.Leu464Val) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002629319] Chr11:2164337 [GRCh38]
Chr11:2185567 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.645-11C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003064531] Chr11:2167496 [GRCh38]
Chr11:2188726 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.107G>T (p.Gly36Val) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002716979] Chr11:2169855 [GRCh38]
Chr11:2191085 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.713C>G (p.Thr238Arg) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003088123]|Inborn genetic diseases [RCV003274227] Chr11:2167015 [GRCh38]
Chr11:2188245 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1416C>T (p.Pro472=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003010288] Chr11:2164311 [GRCh38]
Chr11:2185541 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.842-3C>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002599436] Chr11:2166771 [GRCh38]
Chr11:2188001 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.970C>T (p.Pro324Ser) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002632634] Chr11:2166640 [GRCh38]
Chr11:2187870 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.739G>A (p.Ala247Thr) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002598987]|not specified [RCV004587430] Chr11:2166989 [GRCh38]
Chr11:2188219 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.90+25C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003060735] Chr11:2171672 [GRCh38]
Chr11:2192902 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.787G>A (p.Gly263Ser) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002672141] Chr11:2166941 [GRCh38]
Chr11:2188171 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.347G>A (p.Arg116Gln) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002963171] Chr11:2168631 [GRCh38]
Chr11:2189861 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.97C>T (p.Arg33Trp) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003011251]|Inborn genetic diseases [RCV003269386]|not provided [RCV005254657] Chr11:2169865 [GRCh38]
Chr11:2191095 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.644+16G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002899779] Chr11:2167850 [GRCh38]
Chr11:2189080 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1460A>G (p.Asp487Gly) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002628817]|Inborn genetic diseases [RCV004963511] Chr11:2164267 [GRCh38]
Chr11:2185497 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.25C>T (p.Pro9Ser) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002629128] Chr11:2171762 [GRCh38]
Chr11:2192992 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.418G>A (p.Asp140Asn) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002599857] Chr11:2168560 [GRCh38]
Chr11:2189790 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.577-10C>G single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002963259] Chr11:2167943 [GRCh38]
Chr11:2189173 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.57T>C (p.Ser19=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002599138] Chr11:2171730 [GRCh38]
Chr11:2192960 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1011C>T (p.Pro337=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002628331] Chr11:2166516 [GRCh38]
Chr11:2187746 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.183C>T (p.Pro61=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002791694] Chr11:2169779 [GRCh38]
Chr11:2191009 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.977+13C>G single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002814811] Chr11:2166620 [GRCh38]
Chr11:2187850 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.795G>C (p.Arg265=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003032261] Chr11:2166933 [GRCh38]
Chr11:2188163 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.577-3C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002721638] Chr11:2167936 [GRCh38]
Chr11:2189166 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1334+20C>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002658103] Chr11:2165212 [GRCh38]
Chr11:2186442 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1219C>G (p.Pro407Ala) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003051730] Chr11:2165347 [GRCh38]
Chr11:2186577 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.31G>A (p.Ala11Thr) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003067582] Chr11:2171756 [GRCh38]
Chr11:2192986 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1367C>G (p.Ser456Cys) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003066481] Chr11:2164360 [GRCh38]
Chr11:2185590 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1348C>A (p.Arg450Ser) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002582639] Chr11:2164379 [GRCh38]
Chr11:2185609 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1450G>C (p.Asp484His) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003070882] Chr11:2164277 [GRCh38]
Chr11:2185507 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.281C>T (p.Ser94Leu) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002610721] Chr11:2169681 [GRCh38]
Chr11:2190911 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.507del (p.Val170fs) deletion Autosomal recessive DOPA responsive dystonia [RCV002654430] Chr11:2168160 [GRCh38]
Chr11:2189390 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_000360.4(TH):c.1155G>A (p.Val385=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002587327] Chr11:2165713 [GRCh38]
Chr11:2186943 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.696-15C>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002603676] Chr11:2167047 [GRCh38]
Chr11:2188277 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.91-875G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003050946] Chr11:2170746 [GRCh38]
Chr11:2191976 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.91-886C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002588612] Chr11:2170757 [GRCh38]
Chr11:2191987 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.222G>C (p.Glu74Asp) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002654323] Chr11:2169740 [GRCh38]
Chr11:2190970 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.702G>T (p.Glu234Asp) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003068517] Chr11:2167026 [GRCh38]
Chr11:2188256 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.762C>T (p.Ala254=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003067304] Chr11:2166966 [GRCh38]
Chr11:2188196 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.390C>T (p.Tyr130=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV002587880] Chr11:2168588 [GRCh38]
Chr11:2189818 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.392_395dup (p.Leu134fs) duplication Autosomal recessive DOPA responsive dystonia [RCV003132893] Chr11:2168582..2168583 [GRCh38]
Chr11:2189812..2189813 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.700G>A (p.Glu234Lys) single nucleotide variant Inborn genetic diseases [RCV003213606] Chr11:2167028 [GRCh38]
Chr11:2188258 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.617T>C (p.Ile206Thr) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003140995] Chr11:2167893 [GRCh38]
Chr11:2189123 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.308T>C (p.Phe103Ser) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003140996] Chr11:2169654 [GRCh38]
Chr11:2190884 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1462A>G (p.Thr488Ala) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003140997] Chr11:2164265 [GRCh38]
Chr11:2185495 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.779del (p.Arg260fs) deletion Autosomal recessive DOPA responsive dystonia [RCV003132891] Chr11:2166949 [GRCh38]
Chr11:2188179 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic
NM_000360.4(TH):c.466C>T (p.Arg156Cys) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV005103909]|not provided [RCV003326802] Chr11:2168512 [GRCh38]
Chr11:2189742 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1143G>T (p.Gln381His) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003340815] Chr11:2165725 [GRCh38]
Chr11:2186955 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.920T>C (p.Val307Ala) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003338180] Chr11:2166690 [GRCh38]
Chr11:2187920 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1420del (p.Ala474fs) deletion Autosomal recessive DOPA responsive dystonia [RCV003340814] Chr11:2164307 [GRCh38]
Chr11:2185537 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.990C>G (p.His330Gln) single nucleotide variant not specified [RCV003331598] Chr11:2166537 [GRCh38]
Chr11:2187767 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.428C>A (p.Ala143Asp) single nucleotide variant Inborn genetic diseases [RCV003373807] Chr11:2168550 [GRCh38]
Chr11:2189780 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.933C>T (p.Thr311=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003625650] Chr11:2166677 [GRCh38]
Chr11:2187907 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1437G>A (p.Leu479=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003625007] Chr11:2164290 [GRCh38]
Chr11:2185520 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.522C>T (p.Asp174=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003625304] Chr11:2168145 [GRCh38]
Chr11:2189375 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.977+13C>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003625025] Chr11:2166620 [GRCh38]
Chr11:2187850 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.91-860G>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003474109] Chr11:2170731 [GRCh38]
Chr11:2191961 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.1267C>T (p.Gln423Ter) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003474111] Chr11:2165299 [GRCh38]
Chr11:2186529 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.1105-1G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003474116] Chr11:2165764 [GRCh38]
Chr11:2186994 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.695+1G>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003474125] Chr11:2167434 [GRCh38]
Chr11:2188664 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.1458G>A (p.Leu486=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003625884] Chr11:2164269 [GRCh38]
Chr11:2185499 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1201-4C>G single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003625885] Chr11:2165369 [GRCh38]
Chr11:2186599 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1334+7T>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003625350] Chr11:2165225 [GRCh38]
Chr11:2186455 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.52G>A (p.Val18Met) single nucleotide variant Inborn genetic diseases [RCV004963669]|not provided [RCV003481998] Chr11:2171735 [GRCh38]
Chr11:2192965 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.696-10C>G single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003624033] Chr11:2167042 [GRCh38]
Chr11:2188272 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1330C>T (p.Leu444Phe) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003624119] Chr11:2165236 [GRCh38]
Chr11:2186466 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.198C>T (p.Asp66=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003624124] Chr11:2169764 [GRCh38]
Chr11:2190994 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.503G>A (p.Arg168Lys) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003623929] Chr11:2168164 [GRCh38]
Chr11:2189394 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.948C>T (p.His316=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003624279] Chr11:2166662 [GRCh38]
Chr11:2187892 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1229G>C (p.Arg410Pro) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003625084] Chr11:2165337 [GRCh38]
Chr11:2186567 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.1048-13C>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003625095] Chr11:2166071 [GRCh38]
Chr11:2187301 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1428G>C (p.Arg476=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003625385] Chr11:2164299 [GRCh38]
Chr11:2185529 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1182C>A (p.Ser394=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003625721] Chr11:2165686 [GRCh38]
Chr11:2186916 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1335-11C>G single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003874637] Chr11:2164403 [GRCh38]
Chr11:2185633 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1105-8C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003625118] Chr11:2165771 [GRCh38]
Chr11:2187001 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.399C>T (p.Arg133=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003625410] Chr11:2168579 [GRCh38]
Chr11:2189809 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.816G>A (p.Leu272=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003624112] Chr11:2166912 [GRCh38]
Chr11:2188142 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.282G>T (p.Ser94=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003624116] Chr11:2169680 [GRCh38]
Chr11:2190910 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.313-12T>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003624142] Chr11:2168677 [GRCh38]
Chr11:2189907 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.942C>T (p.Ile314=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003624199] Chr11:2166668 [GRCh38]
Chr11:2187898 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1353C>T (p.Ile451=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003624290] Chr11:2164374 [GRCh38]
Chr11:2185604 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1334+10G>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003625146] Chr11:2165222 [GRCh38]
Chr11:2186452 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1068G>A (p.Leu356=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003624188] Chr11:2166038 [GRCh38]
Chr11:2187268 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.90+30G>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003625481] Chr11:2171667 [GRCh38]
Chr11:2192897 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1245G>A (p.Glu415=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003624653] Chr11:2165321 [GRCh38]
Chr11:2186551 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.39C>T (p.Gly13=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003625198] Chr11:2171748 [GRCh38]
Chr11:2192978 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.91-897C>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003624068] Chr11:2170768 [GRCh38]
Chr11:2191998 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.177A>T (p.Ala59=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003623982] Chr11:2169785 [GRCh38]
Chr11:2191015 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.91-882C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003623925] Chr11:2170753 [GRCh38]
Chr11:2191983 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.494G>A (p.Trp165Ter) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003623967] Chr11:2168173 [GRCh38]
Chr11:2189403 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_000360.4(TH):c.90+14T>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003624339] Chr11:2171683 [GRCh38]
Chr11:2192913 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.1105-6C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003624836] Chr11:2165769 [GRCh38]
Chr11:2186999 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.841+14G>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003625209] Chr11:2166873 [GRCh38]
Chr11:2188103 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1044G>A (p.Ser348=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003624246] Chr11:2166483 [GRCh38]
Chr11:2187713 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.841+13G>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003624307] Chr11:2166874 [GRCh38]
Chr11:2188104 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1105-17G>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003624312] Chr11:2165780 [GRCh38]
Chr11:2187010 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.423G>C (p.Leu141=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003625520] Chr11:2168555 [GRCh38]
Chr11:2189785 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.597C>T (p.Tyr199=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003625522] Chr11:2167913 [GRCh38]
Chr11:2189143 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1260G>A (p.Gln420=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003625527] Chr11:2165306 [GRCh38]
Chr11:2186536 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1201-4C>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003625529] Chr11:2165369 [GRCh38]
Chr11:2186599 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.576+18C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003625800] Chr11:2168073 [GRCh38]
Chr11:2189303 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.723C>T (p.Gly241=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003624077] Chr11:2167005 [GRCh38]
Chr11:2188235 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1209G>C (p.Leu403=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003624394] Chr11:2165357 [GRCh38]
Chr11:2186587 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.663T>A (p.Arg221=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003624852] Chr11:2167467 [GRCh38]
Chr11:2188697 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.977+11G>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003624388] Chr11:2166622 [GRCh38]
Chr11:2187852 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.765T>G (p.Phe255Leu) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003625150] Chr11:2166963 [GRCh38]
Chr11:2188193 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.977+20G>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003625183] Chr11:2166613 [GRCh38]
Chr11:2187843 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.960C>T (p.Pro320=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003625825] Chr11:2166650 [GRCh38]
Chr11:2187880 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.977+11G>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003624169] Chr11:2166622 [GRCh38]
Chr11:2187852 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.91-885C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003874235] Chr11:2170756 [GRCh38]
Chr11:2191986 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.842-16G>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003624236] Chr11:2166784 [GRCh38]
Chr11:2188014 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.312+11G>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003624808] Chr11:2169639 [GRCh38]
Chr11:2190869 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.6C>T (p.Pro2=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003624899] Chr11:2171781 [GRCh38]
Chr11:2193011 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.645-15T>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003624642] Chr11:2167500 [GRCh38]
Chr11:2188730 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.488-14C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003624680] Chr11:2168193 [GRCh38]
Chr11:2189423 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.925C>T (p.Gln309Ter) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003624328] Chr11:2166685 [GRCh38]
Chr11:2187915 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_000360.4(TH):c.577-19G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003624915] Chr11:2167952 [GRCh38]
Chr11:2189182 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.842-7C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003624906] Chr11:2166775 [GRCh38]
Chr11:2188005 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.722G>A (p.Gly241Asp) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003625853] Chr11:2167006 [GRCh38]
Chr11:2188236 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.978-4G>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003511798] Chr11:2166553 [GRCh38]
Chr11:2187783 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.91-10G>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003624938] Chr11:2169881 [GRCh38]
Chr11:2191111 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1378G>T (p.Asp460Tyr) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003447870] Chr11:2164349 [GRCh38]
Chr11:2185579 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1057C>T (p.Leu353=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003625064] Chr11:2166049 [GRCh38]
Chr11:2187279 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.711del (p.Thr238fs) deletion Autosomal recessive DOPA responsive dystonia [RCV003625595] Chr11:2167017 [GRCh38]
Chr11:2188247 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic
NM_000360.4(TH):c.583del (p.Ser195fs) deletion Autosomal recessive DOPA responsive dystonia [RCV003625871] Chr11:2167927 [GRCh38]
Chr11:2189157 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic
NM_000360.4(TH):c.90+25C>G single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003511516] Chr11:2171672 [GRCh38]
Chr11:2192902 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.312+12G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003624967] Chr11:2169638 [GRCh38]
Chr11:2190868 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.90+21C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003625629] Chr11:2171676 [GRCh38]
Chr11:2192906 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.841+8C>G single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003625632] Chr11:2166879 [GRCh38]
Chr11:2188109 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1066dup (p.Leu356fs) duplication Autosomal recessive DOPA responsive dystonia [RCV003474113] Chr11:2166039..2166040 [GRCh38]
Chr11:2187269..2187270 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.820_823del (p.Asp274fs) deletion Autosomal recessive DOPA responsive dystonia [RCV003474114] Chr11:2166905..2166908 [GRCh38]
Chr11:2188135..2188138 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.695+11C>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003624977] Chr11:2167424 [GRCh38]
Chr11:2188654 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.977+16G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003624979] Chr11:2166617 [GRCh38]
Chr11:2187847 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.934C>T (p.Gln312Ter) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003474115] Chr11:2166676 [GRCh38]
Chr11:2187906 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic
NM_000360.4(TH):c.708del (p.Val235_Tyr236insTer) deletion Autosomal recessive DOPA responsive dystonia [RCV003474124] Chr11:2167020 [GRCh38]
Chr11:2188250 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.312+13C>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003872674] Chr11:2169637 [GRCh38]
Chr11:2190867 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.641G>T (p.Arg214Met) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003474117] Chr11:2167869 [GRCh38]
Chr11:2189099 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_000360.4(TH):c.978-2A>G single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003474121] Chr11:2166551 [GRCh38]
Chr11:2187781 [GRCh37]
Chr11:11p15.5		 likely pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3 copy number gain Russell-Silver syndrome [RCV003444025] Chr11:230615..8821443 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_000360.4(TH):c.1036C>T (p.Gln346Ter) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003474110] Chr11:2166491 [GRCh38]
Chr11:2187721 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.1273C>T (p.Gln425Ter) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003474120] Chr11:2165293 [GRCh38]
Chr11:2186523 [GRCh37]
Chr11:11p15.5		 likely pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:192764-3362853)x3 copy number gain not provided [RCV003484828] Chr11:192764..3362853 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_000360.4(TH):c.858G>A (p.Gln286=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003511888] Chr11:2166752 [GRCh38]
Chr11:2187982 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.91-13C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003511774] Chr11:2169884 [GRCh38]
Chr11:2191114 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.696-1G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003474112] Chr11:2167033 [GRCh38]
Chr11:2188263 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.978-1_1019del deletion Autosomal recessive DOPA responsive dystonia [RCV003474119] Chr11:2166508..2166550 [GRCh38]
Chr11:2187738..2187780 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.192del (p.Asp66fs) deletion Autosomal recessive DOPA responsive dystonia [RCV003474123] Chr11:2169770 [GRCh38]
Chr11:2191000 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.1141C>T (p.Gln381Ter) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003474127] Chr11:2165727 [GRCh38]
Chr11:2186957 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.789_795dup (p.Glu266fs) duplication Autosomal recessive DOPA responsive dystonia [RCV003474118] Chr11:2166932..2166933 [GRCh38]
Chr11:2188162..2188163 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic
NM_000360.4(TH):c.531_541del (p.His178fs) deletion Autosomal recessive DOPA responsive dystonia [RCV003474122] Chr11:2168126..2168136 [GRCh38]
Chr11:2189356..2189366 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.841+1G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003474128] Chr11:2166886 [GRCh38]
Chr11:2188116 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.796G>T (p.Glu266Ter) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003512413] Chr11:2166932 [GRCh38]
Chr11:2188162 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_000360.4(TH):c.978-1G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003512827] Chr11:2166550 [GRCh38]
Chr11:2187780 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.1068G>T (p.Leu356=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003831852] Chr11:2166038 [GRCh38]
Chr11:2187268 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.577-6C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003625919] Chr11:2167939 [GRCh38]
Chr11:2189169 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.91-806_91-805del deletion Autosomal recessive DOPA responsive dystonia [RCV003513521] Chr11:2170676..2170677 [GRCh38]
Chr11:2191906..2191907 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1048-16C>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003626037] Chr11:2166074 [GRCh38]
Chr11:2187304 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.898del (p.Leu300fs) deletion Autosomal recessive DOPA responsive dystonia [RCV003513459] Chr11:2166712 [GRCh38]
Chr11:2187942 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_000360.4(TH):c.841+18G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003512286] Chr11:2166869 [GRCh38]
Chr11:2188099 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.91-835AC[3] microsatellite Autosomal recessive DOPA responsive dystonia [RCV003512294] Chr11:2170702..2170703 [GRCh38]
Chr11:2191932..2191933 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_000360.4(TH):c.909G>A (p.Leu303=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003878455] Chr11:2166701 [GRCh38]
Chr11:2187931 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1096C>T (p.Leu366=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003512485] Chr11:2166010 [GRCh38]
Chr11:2187240 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.18C>A (p.Ala6=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003512603] Chr11:2171769 [GRCh38]
Chr11:2192999 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.545_546del (p.Lys182fs) deletion Autosomal recessive DOPA responsive dystonia [RCV003625972] Chr11:2168121..2168122 [GRCh38]
Chr11:2189351..2189352 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_000360.4(TH):c.1047+13C>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003511856] Chr11:2166467 [GRCh38]
Chr11:2187697 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.695+20A>G single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003625978] Chr11:2167415 [GRCh38]
Chr11:2188645 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.313-10G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003513601] Chr11:2168675 [GRCh38]
Chr11:2189905 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.592del (p.Val198fs) deletion Autosomal recessive DOPA responsive dystonia [RCV003513603] Chr11:2167918 [GRCh38]
Chr11:2189148 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_000360.4(TH):c.90+22C>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003626092] Chr11:2171675 [GRCh38]
Chr11:2192905 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.978-15C>G single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003512852] Chr11:2166564 [GRCh38]
Chr11:2187794 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.978-20C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003625932] Chr11:2166569 [GRCh38]
Chr11:2187799 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.916del (p.Arg306fs) deletion Autosomal recessive DOPA responsive dystonia [RCV003625962] Chr11:2166694 [GRCh38]
Chr11:2187924 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_000360.4(TH):c.1104+10C>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003513224] Chr11:2165992 [GRCh38]
Chr11:2187222 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.487+18C>G single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003513238] Chr11:2168473 [GRCh38]
Chr11:2189703 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.339A>G (p.Leu113=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003513182] Chr11:2168639 [GRCh38]
Chr11:2189869 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1048-20T>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003511480] Chr11:2166078 [GRCh38]
Chr11:2187308 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.313-18C>G single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003511557] Chr11:2168683 [GRCh38]
Chr11:2189913 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1189G>C (p.Gly397Arg) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003511573] Chr11:2165679 [GRCh38]
Chr11:2186909 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_000360.4(TH):c.1047+15C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003511936] Chr11:2166465 [GRCh38]
Chr11:2187695 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1105-14C>G single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003513602] Chr11:2165777 [GRCh38]
Chr11:2187007 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1077G>T (p.Ser359=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003512320] Chr11:2166029 [GRCh38]
Chr11:2187259 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1194G>A (p.Glu398=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003512570] Chr11:2165674 [GRCh38]
Chr11:2186904 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.576+11C>G single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003512575] Chr11:2168080 [GRCh38]
Chr11:2189310 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1335-6C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003513305] Chr11:2164398 [GRCh38]
Chr11:2185628 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.695+11C>G single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003513770] Chr11:2167424 [GRCh38]
Chr11:2188654 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1278G>T (p.Thr426=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003513776] Chr11:2165288 [GRCh38]
Chr11:2186518 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.91-19G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003512238] Chr11:2169890 [GRCh38]
Chr11:2191120 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.977+20G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003512463] Chr11:2166613 [GRCh38]
Chr11:2187843 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.842-7C>G single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003513409] Chr11:2166775 [GRCh38]
Chr11:2188005 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1048-13C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003828178] Chr11:2166071 [GRCh38]
Chr11:2187301 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.933C>G (p.Thr311=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003511488] Chr11:2166677 [GRCh38]
Chr11:2187907 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1335-19C>G single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003512348] Chr11:2164411 [GRCh38]
Chr11:2185641 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.237G>A (p.Lys79=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003512356] Chr11:2169725 [GRCh38]
Chr11:2190955 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.978-11C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003512360] Chr11:2166560 [GRCh38]
Chr11:2187790 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.91-810G>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003511531] Chr11:2170681 [GRCh38]
Chr11:2191911 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.644+8dup duplication Autosomal recessive DOPA responsive dystonia [RCV003512554] Chr11:2167857..2167858 [GRCh38]
Chr11:2189087..2189088 [GRCh37]
Chr11:11p15.5		 benign
NM_000360.4(TH):c.1334+11C>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003513454] Chr11:2165221 [GRCh38]
Chr11:2186451 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1104+15C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003512584] Chr11:2165987 [GRCh38]
Chr11:2187217 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1104+11C>G single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003881855] Chr11:2165991 [GRCh38]
Chr11:2187221 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1335-18T>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003513086] Chr11:2164410 [GRCh38]
Chr11:2185640 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.842-9C>G single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003511661] Chr11:2166777 [GRCh38]
Chr11:2188007 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.91-840A>G single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003625901] Chr11:2170711 [GRCh38]
Chr11:2191941 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1047+1G>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003626012] Chr11:2166479 [GRCh38]
Chr11:2187709 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.644+8G>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003513214] Chr11:2167858 [GRCh38]
Chr11:2189088 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.138C>A (p.Arg46=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003880819] Chr11:2169824 [GRCh38]
Chr11:2191054 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1048-20_1048-14dup duplication Autosomal recessive DOPA responsive dystonia [RCV003840437] Chr11:2166071..2166072 [GRCh38]
Chr11:2187301..2187302 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1152G>A (p.Glu384=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003856592] Chr11:2165716 [GRCh38]
Chr11:2186946 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1334+16A>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003833713] Chr11:2165216 [GRCh38]
Chr11:2186446 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.45C>T (p.Arg15=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003850614] Chr11:2171742 [GRCh38]
Chr11:2192972 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.91-907C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003810895] Chr11:2170778 [GRCh38]
Chr11:2192008 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1116C>T (p.Phe372=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003815130] Chr11:2165752 [GRCh38]
Chr11:2186982 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1131G>A (p.Gly377=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003849525] Chr11:2165737 [GRCh38]
Chr11:2186967 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.318T>C (p.Phe106=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003857310] Chr11:2168660 [GRCh38]
Chr11:2189890 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.313-13T>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003840979] Chr11:2168678 [GRCh38]
Chr11:2189908 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.279C>G (p.Pro93=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003842272] Chr11:2169683 [GRCh38]
Chr11:2190913 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.313-8T>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003862387] Chr11:2168673 [GRCh38]
Chr11:2189903 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1071G>A (p.Gly357=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003860157] Chr11:2166035 [GRCh38]
Chr11:2187265 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.488-11C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003868604] Chr11:2168190 [GRCh38]
Chr11:2189420 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1105-11C>G single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003863681] Chr11:2165774 [GRCh38]
Chr11:2187004 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1104+19G>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003858790] Chr11:2165983 [GRCh38]
Chr11:2187213 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.91-883dup duplication Autosomal recessive DOPA responsive dystonia [RCV003864990] Chr11:2170753..2170754 [GRCh38]
Chr11:2191983..2191984 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_000360.4(TH):c.90+20C>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003858628] Chr11:2171677 [GRCh38]
Chr11:2192907 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.487+118G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003992096] Chr11:2168373 [GRCh38]
Chr11:2189603 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.517C>T (p.Leu173=) single nucleotide variant TH-related disorder [RCV003937139] Chr11:2168150 [GRCh38]
Chr11:2189380 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.842-38C>G single nucleotide variant TH-related disorder [RCV003924045] Chr11:2166806 [GRCh38]
Chr11:2188036 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.821A>G (p.Asp274Gly) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV003988945] Chr11:2166907 [GRCh38]
Chr11:2188137 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.412C>G (p.Arg138Gly) single nucleotide variant Inborn genetic diseases [RCV004474677] Chr11:2168566 [GRCh38]
Chr11:2189796 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.938A>C (p.Tyr313Ser) single nucleotide variant Inborn genetic diseases [RCV004474674] Chr11:2166672 [GRCh38]
Chr11:2187902 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.173C>T (p.Ala58Val) single nucleotide variant Inborn genetic diseases [RCV004474676] Chr11:2169789 [GRCh38]
Chr11:2191019 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1441G>A (p.Gly481Ser) single nucleotide variant Inborn genetic diseases [RCV004668467] Chr11:2164286 [GRCh38]
Chr11:2185516 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.9:g.(?_216698)_(2906719_?)dup duplication Beckwith-Wiedemann syndrome [RCV004580105] Chr11:216698..2906719 [GRCh37]
Chr11:11p15.5-15.4		 uncertain significance
NC_000011.9:g.(?_2185463)_(2187013_?)del deletion Autosomal recessive DOPA responsive dystonia [RCV004580212] Chr11:2185463..2187013 [GRCh37]
Chr11:11p15.5		 pathogenic
NC_000011.9:g.(?_2188266)_(2189719_?)del deletion Autosomal recessive DOPA responsive dystonia [RCV004580213] Chr11:2188266..2189719 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NC_000011.9:g.(?_2186110)_(2187232_?)del deletion Autosomal recessive DOPA responsive dystonia [RCV004580214] Chr11:2186110..2187232 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.629C>T (p.Ala210Val) single nucleotide variant not specified [RCV004587764] Chr11:2167881 [GRCh38]
Chr11:2189111 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1008_1009delinsTT (p.Pro337Ser) indel not provided [RCV004697491] Chr11:2166518..2166519 [GRCh38]
Chr11:2187748..2187749 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.91-1G>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV004573737] Chr11:2169872 [GRCh38]
Chr11:2191102 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.956C>A (p.Ser319Ter) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV004573739] Chr11:2166654 [GRCh38]
Chr11:2187884 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.446_447del (p.Arg149fs) microsatellite Autosomal recessive DOPA responsive dystonia [RCV004573738] Chr11:2168531..2168532 [GRCh38]
Chr11:2189761..2189762 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.1009C>T (p.Pro337Ser) single nucleotide variant not provided [RCV004697464] Chr11:2166518 [GRCh38]
Chr11:2187748 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.1334+1G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV004573736] Chr11:2165231 [GRCh38]
Chr11:2186461 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.589C>T (p.Gln197Ter) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV004573740] Chr11:2167921 [GRCh38]
Chr11:2189151 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.92C>A (p.Ser31Tyr) single nucleotide variant Inborn genetic diseases [RCV004668466] Chr11:2169870 [GRCh38]
Chr11:2191100 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.890G>A (p.Arg297Gln) single nucleotide variant not specified [RCV004703083] Chr11:2166720 [GRCh38]
Chr11:2187950 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1430G>C (p.Arg477Pro) single nucleotide variant not provided [RCV004793308] Chr11:2164297 [GRCh38]
Chr11:2185527 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.738C>G (p.His246Gln) single nucleotide variant not specified [RCV004702762] Chr11:2166990 [GRCh38]
Chr11:2188220 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.1047G>C (p.Gln349His) single nucleotide variant not provided [RCV004778831] Chr11:2166480 [GRCh38]
Chr11:2187710 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.686T>C (p.Ile229Thr) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV005104927]|not provided [RCV004761548] Chr11:2167444 [GRCh38]
Chr11:2188674 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.251T>C (p.Leu84Pro) single nucleotide variant not provided [RCV004769179] Chr11:2169711 [GRCh38]
Chr11:2190941 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.863G>C (p.Arg288Pro) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV005046672] Chr11:2166747 [GRCh38]
Chr11:2187977 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.196del (p.Asp66fs) deletion Autosomal recessive DOPA responsive dystonia [RCV005046676] Chr11:2169766 [GRCh38]
Chr11:2190996 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.833T>C (p.Phe278Ser) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV005046673] Chr11:2166895 [GRCh38]
Chr11:2188125 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.643C>T (p.His215Tyr) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV005046675] Chr11:2167867 [GRCh38]
Chr11:2189097 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.1489G>A (p.Gly497Ser) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV005046671] Chr11:2164238 [GRCh38]
Chr11:2185468 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.740C>A (p.Ala247Asp) single nucleotide variant Inborn genetic diseases [RCV004971807] Chr11:2166988 [GRCh38]
Chr11:2188218 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.644+20G>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV005173754] Chr11:2167846 [GRCh38]
Chr11:2189076 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.644+11C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV005067390] Chr11:2167855 [GRCh38]
Chr11:2189085 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.978-18T>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV005146902] Chr11:2166567 [GRCh38]
Chr11:2187797 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.91_113del deletion Autosomal recessive DOPA responsive dystonia [RCV005055248] Chr11:2169849..2169871 [GRCh38]
Chr11:2191079..2191101 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_000360.4(TH):c.577-8G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV005062178] Chr11:2167941 [GRCh38]
Chr11:2189171 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.916C>T (p.Arg306Cys) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV005086863] Chr11:2166694 [GRCh38]
Chr11:2187924 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.646G>C (p.Gly216Arg) single nucleotide variant not specified [RCV005088301] Chr11:2167484 [GRCh38]
Chr11:2188714 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.487+19C>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV005161104] Chr11:2168472 [GRCh38]
Chr11:2189702 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.242del (p.Val81fs) deletion Autosomal recessive DOPA responsive dystonia [RCV005122173] Chr11:2169720 [GRCh38]
Chr11:2190950 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_000360.4(TH):c.730G>A (p.Ala244Thr) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV005200740] Chr11:2166998 [GRCh38]
Chr11:2188228 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.841+12C>G single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV005120238] Chr11:2166875 [GRCh38]
Chr11:2188105 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1047+1G>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV005157658] Chr11:2166479 [GRCh38]
Chr11:2187709 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.1335-17G>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV005205154] Chr11:2164409 [GRCh38]
Chr11:2185639 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.767C>G (p.Ala256Gly) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV005158382] Chr11:2166961 [GRCh38]
Chr11:2188191 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.645-9C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV005075749] Chr11:2167494 [GRCh38]
Chr11:2188724 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.826T>G (p.Ser276Ala) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV005235848] Chr11:2166902 [GRCh38]
Chr11:2188132 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000360.4(TH):c.488-18C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV005166096] Chr11:2168197 [GRCh38]
Chr11:2189427 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.91-14C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV005155420] Chr11:2169885 [GRCh38]
Chr11:2191115 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.488-19T>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV005074856] Chr11:2168198 [GRCh38]
Chr11:2189428 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.205G>C (p.Glu69Gln) single nucleotide variant not provided [RCV005241994] Chr11:2169757 [GRCh38]
Chr11:2190987 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.74A>C (p.Gln25Pro) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV005189590] Chr11:2171713 [GRCh38]
Chr11:2192943 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.645-8dup duplication Autosomal recessive DOPA responsive dystonia [RCV005207185] Chr11:2167492..2167493 [GRCh38]
Chr11:2188722..2188723 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1201-15T>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV005076577] Chr11:2165380 [GRCh38]
Chr11:2186610 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.978-13C>T single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV005190051] Chr11:2166562 [GRCh38]
Chr11:2187792 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.244C>T (p.Leu82=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV005160260] Chr11:2169718 [GRCh38]
Chr11:2190948 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1048-4A>C single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV005112050] Chr11:2166062 [GRCh38]
Chr11:2187292 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.927G>A (p.Gln309=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV005197620] Chr11:2166683 [GRCh38]
Chr11:2187913 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.544A>C (p.Lys182Gln) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV005150363] Chr11:2168123 [GRCh38]
Chr11:2189353 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.696-5C>G single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV005185130] Chr11:2167037 [GRCh38]
Chr11:2188267 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.91-905C>A single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV005131095] Chr11:2170776 [GRCh38]
Chr11:2192006 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1440G>A (p.Glu480=) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV005129244] Chr11:2164287 [GRCh38]
Chr11:2185517 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000360.4(TH):c.1240C>A (p.Pro414Thr) single nucleotide variant not provided [RCV005256407] Chr11:2165326 [GRCh38]
Chr11:2186556 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.674C>T (p.Thr225Ile) single nucleotide variant Autosomal recessive DOPA responsive dystonia [RCV005254172] Chr11:2167456 [GRCh38]
Chr11:2188686 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.991G>A (p.Glu331Lys) single nucleotide variant not provided [RCV005415074] Chr11:2166536 [GRCh38]
Chr11:2187766 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000360.4(TH):c.989A>G (p.His330Arg) single nucleotide variant not specified [RCV005407603] Chr11:2166538 [GRCh38]
Chr11:2187768 [GRCh37]
Chr11:11p15.5		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:4578
Count of miRNA genes:872
Interacting mature miRNAs:1070
Transcripts:ENST00000324155, ENST00000333684, ENST00000352909, ENST00000381168, ENST00000381175, ENST00000381178, ENST00000412076, ENST00000416223, ENST00000461172, ENST00000469226, ENST00000479437
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597032343GWAS1128417_Hbody height QTL GWAS1128417 (human)6e-35body height1121651052165106Human
628833918GWAS2742147_Hbase metabolic rate measurement QTL GWAS2742147 (human)1e-12energy metabolism trait (VT:0010637)1121691252169126Human
597164062GWAS1260136_Hcreatinine measurement QTL GWAS1260136 (human)4e-10creatinine measurement1121693612169362Human
628442429GWAS2350658_Hhemoglobin measurement QTL GWAS2350658 (human)7e-14blood hemoglobin amount (VT:0001588)hemoglobin measurement (CMO:0000508)1121693612169362Human
407181902GWAS830878_Hcreatinine measurement QTL GWAS830878 (human)4e-10creatinine measurement1121693612169362Human
628901111GWAS2809340_Hsex hormone-binding globulin measurement QTL GWAS2809340 (human)1e-10sex hormone-binding globulin measurement1121697212169722Human
407317002GWAS965978_Hsex hormone-binding globulin measurement QTL GWAS965978 (human)1e-10sex hormone-binding globulin measurement1121697212169722Human
616553327GWAS1949910_Hwhole body water mass QTL GWAS1949910 (human)5e-14whole body water mass1121691252169126Human
628615335GWAS2523564_Hserum creatinine amount QTL GWAS2523564 (human)4e-10serum creatinine amount1121693612169362Human
628515367GWAS2423596_Hsexual dimorphism measurement QTL GWAS2423596 (human)3e-08educational attainment1121704792170480Human
407047249GWAS696225_Hsexual dimorphism measurement QTL GWAS696225 (human)3e-08educational attainment1121704792170480Human
598092405GWAS1811704_Hbody height QTL GWAS1811704 (human)3e-33body height1121651052165106Human
407309716GWAS958692_Hhemoglobin measurement QTL GWAS958692 (human)6e-12hematocrit1121693612169362Human
628906856GWAS2815085_Htype 2 diabetes mellitus QTL GWAS2815085 (human)0.0000003type 2 diabetes mellitus1121691882169189Human
406918617GWAS567593_Hbody height QTL GWAS567593 (human)6e-35body height1121651052165106Human
597278849GWAS1374923_Hsex hormone-binding globulin measurement QTL GWAS1374923 (human)1e-10sex hormone-binding globulin measurement1121697212169722Human
625828375GWAS2249297_Htype 2 diabetes mellitus QTL GWAS2249297 (human)0.0000003type 2 diabetes mellitus1121691882169189Human
406938906GWAS587882_Hhemoglobin measurement QTL GWAS587882 (human)1e-13hemoglobin measurement1121693612169362Human
628925344GWAS2833573_Hbody height QTL GWAS2833573 (human)6e-34body height1121651052165106Human
597284677GWAS1380751_Hhemoglobin measurement QTL GWAS1380751 (human)6e-12hemoglobin measurement1121693612169362Human
597193540GWAS1289614_Hsexual dimorphism measurement QTL GWAS1289614 (human)9e-12sexual dimorphism measurement1121693612169362Human
616550178GWAS1946761_Hbase metabolic rate measurement QTL GWAS1946761 (human)1e-12base metabolic rate measurement1121691252169126Human
628531243GWAS2439472_Hhemoglobin measurement QTL GWAS2439472 (human)6e-12erythrocyte morphology trait (VT:0002447)hematocrit (CMO:0000037)1121693612169362Human
628412819GWAS2321048_Hbody height QTL GWAS2321048 (human)6e-35body height1121651052165106Human
626460925GWAS2274858_Hbody height QTL GWAS2274858 (human)6e-34body height1121651052165106Human
597148540GWAS1244614_Heducational attainment QTL GWAS1244614 (human)3e-08sexual dimorphism measurement1121704792170480Human
598001749GWAS1721048_Hbody height QTL GWAS1721048 (human)6e-35body height1121651052165106Human
598089431GWAS1808730_Hserum creatinine amount QTL GWAS1808730 (human)4e-10serum creatinine amount1121693612169362Human
407190582GWAS839558_Hbody height QTL GWAS839558 (human)3e-33body height1121651052165106Human
1558691SCL8_HSerum cholesterol level QTL 8 (human)1.2Lipid levelHDL cholesterol1115227071Human
597400367GWAS1496441_Htype 2 diabetes mellitus QTL GWAS1496441 (human)2e-08type 2 diabetes mellitus1121662122166213Human
406978164GWAS627140_Hhematocrit QTL GWAS627140 (human)9e-13hematocrit1121693612169362Human
597263407GWAS1359481_Hbody height QTL GWAS1359481 (human)3e-33body height1121651052165106Human
407048692GWAS697668_Hsexual dimorphism measurement QTL GWAS697668 (human)9e-12sexual dimorphism measurement1121693612169362Human
628612815GWAS2521044_Hbody height QTL GWAS2521044 (human)3e-33body height1121651052165106Human
406943544GWAS592520_Hhematocrit QTL GWAS592520 (human)8e-14hematocrit1121693612169362Human
628655170GWAS2563399_Hsexual dimorphism measurement QTL GWAS2563399 (human)9e-12sexual dimorphism measurement1121693612169362Human
407306237GWAS955213_Htype 2 diabetes mellitus QTL GWAS955213 (human)2e-08type 2 diabetes mellitus1121662122166213Human
628443726GWAS2351955_Hhematocrit QTL GWAS2351955 (human)9e-13erythrocyte morphology trait (VT:0002447)hematocrit (CMO:0000037)1121693612169362Human
628427848GWAS2336077_Hhemoglobin measurement QTL GWAS2336077 (human)1e-13blood hemoglobin amount (VT:0001588)hemoglobin measurement (CMO:0000508)1121693612169362Human
628698119GWAS2606348_Hwhole body water mass QTL GWAS2606348 (human)5e-14whole body water mass1121691252169126Human
406981052GWAS630028_Hhemoglobin measurement QTL GWAS630028 (human)7e-14hemoglobin measurement1121693612169362Human
628430730GWAS2338959_Hhematocrit QTL GWAS2338959 (human)8e-14erythrocyte morphology trait (VT:0002447)hematocrit (CMO:0000037)1121693612169362Human

Markers in Region
RH76200  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,185,262 - 2,185,472UniSTSGRCh37
Build 36112,141,838 - 2,142,048RGDNCBI36
Celera112,221,855 - 2,222,065RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,975,527 - 1,975,737UniSTS
GDB:179880  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,185,544 - 2,187,264UniSTSGRCh37
Build 36112,142,120 - 2,143,840RGDNCBI36
Celera112,222,137 - 2,223,857RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,975,809 - 1,977,529UniSTS
GDB:180306  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,192,277 - 2,192,522UniSTSGRCh37
Build 36112,148,853 - 2,149,098RGDNCBI36
Celera112,228,870 - 2,229,111RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,982,545 - 1,982,786UniSTS
GDB:197838  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,192,600 - 2,193,078UniSTSGRCh37
Build 36112,149,176 - 2,149,654RGDNCBI36
Celera112,229,189 - 2,229,667RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,982,864 - 1,983,342UniSTS
GDB:197908  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,185,198 - 2,185,427UniSTSGRCh37
Build 36112,141,774 - 2,142,003RGDNCBI36
Celera112,221,791 - 2,222,020RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,975,463 - 1,975,692UniSTS
GDB:212652  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,192,220 - 2,192,406UniSTSGRCh37
Build 36112,148,796 - 2,148,982RGDNCBI36
Celera112,228,813 - 2,228,995RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,982,488 - 1,982,670UniSTS
ECD00347  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,187,887 - 2,188,799UniSTSGRCh37
Build 36112,144,463 - 2,145,375RGDNCBI36
Celera112,224,480 - 2,225,392RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,978,155 - 1,979,067UniSTS
ECD00576  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,188,992 - 2,189,891UniSTSGRCh37
Build 36112,145,568 - 2,146,467RGDNCBI36
Celera112,225,585 - 2,226,484RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,979,260 - 1,980,159UniSTS
ECD00907  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,185,040 - 2,185,925UniSTSGRCh37
Build 36112,141,616 - 2,142,501RGDNCBI36
Celera112,221,633 - 2,222,518RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,975,305 - 1,976,190UniSTS
ECD01213  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,193,332 - 2,194,205UniSTSGRCh37
Build 36112,149,908 - 2,150,781RGDNCBI36
Celera112,229,921 - 2,230,794RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,983,596 - 1,984,469UniSTS
ECD01847  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,192,384 - 2,193,235UniSTSGRCh37
Build 36112,148,960 - 2,149,811RGDNCBI36
Celera112,228,973 - 2,229,824RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,982,648 - 1,983,499UniSTS
ECD04129  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,186,021 - 2,186,795UniSTSGRCh37
Build 36112,142,597 - 2,143,371RGDNCBI36
Celera112,222,614 - 2,223,388RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,976,286 - 1,977,060UniSTS
ECD08379  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,186,970 - 2,187,626UniSTSGRCh37
Build 36112,143,546 - 2,144,202RGDNCBI36
Celera112,223,563 - 2,224,219RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,977,235 - 1,977,894UniSTS
ECD08746  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,190,682 - 2,191,329UniSTSGRCh37
Build 36112,147,258 - 2,147,905RGDNCBI36
Celera112,227,275 - 2,227,922RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,980,950 - 1,981,597UniSTS
ECD09396  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,190,018 - 2,190,648UniSTSGRCh37
Build 36112,146,594 - 2,147,224RGDNCBI36
Celera112,226,611 - 2,227,241RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,980,286 - 1,980,916UniSTS
ECD12135  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,191,379 - 2,191,931UniSTSGRCh37
Build 36112,147,955 - 2,148,507RGDNCBI36
Celera112,227,972 - 2,228,524RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,981,647 - 1,982,199UniSTS
ECD22045  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,192,081 - 2,192,312UniSTSGRCh37
Build 36112,148,657 - 2,148,888RGDNCBI36
Celera112,228,674 - 2,228,905RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,982,349 - 1,982,580UniSTS
REN117106  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,184,824 - 2,185,060UniSTSGRCh37
Build 36112,141,400 - 2,141,636RGDNCBI36
Celera112,221,417 - 2,221,653RGD
HuRef111,975,089 - 1,975,325UniSTS
REN117107  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,185,038 - 2,185,278UniSTSGRCh37
Build 36112,141,614 - 2,141,854RGDNCBI36
Celera112,221,631 - 2,221,871RGD
HuRef111,975,303 - 1,975,543UniSTS
REN117108  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,185,258 - 2,185,509UniSTSGRCh37
Build 36112,141,834 - 2,142,085RGDNCBI36
Celera112,221,851 - 2,222,102RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,975,523 - 1,975,774UniSTS
REN117109  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,185,489 - 2,185,730UniSTSGRCh37
Build 36112,142,065 - 2,142,306RGDNCBI36
Celera112,222,082 - 2,222,323RGD
HuRef111,975,754 - 1,975,995UniSTS
REN117110  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,185,707 - 2,185,932UniSTSGRCh37
Build 36112,142,283 - 2,142,508RGDNCBI36
Celera112,222,300 - 2,222,525RGD
HuRef111,975,972 - 1,976,197UniSTS
REN117111  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,185,912 - 2,186,157UniSTSGRCh37
Build 36112,142,488 - 2,142,733RGDNCBI36
Celera112,222,505 - 2,222,750RGD
HuRef111,976,177 - 1,976,422UniSTS
REN117112  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,186,206 - 2,186,458UniSTSGRCh37
Build 36112,142,782 - 2,143,034RGDNCBI36
Celera112,222,799 - 2,223,051RGD
HuRef111,976,471 - 1,976,723UniSTS
REN117113  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,186,452 - 2,186,701UniSTSGRCh37
Build 36112,143,028 - 2,143,277RGDNCBI36
Celera112,223,045 - 2,223,294RGD
HuRef111,976,717 - 1,976,966UniSTS
REN117114  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,186,677 - 2,186,949UniSTSGRCh37
Build 36112,143,253 - 2,143,525RGDNCBI36
Celera112,223,270 - 2,223,542RGD
HuRef111,976,942 - 1,977,214UniSTS
REN117115  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,186,944 - 2,187,188UniSTSGRCh37
Build 36112,143,520 - 2,143,764RGDNCBI36
Celera112,223,537 - 2,223,781RGD
HuRef111,977,209 - 1,977,453UniSTS
REN117116  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,187,164 - 2,187,399UniSTSGRCh37
Build 36112,143,740 - 2,143,975RGDNCBI36
Celera112,223,757 - 2,223,992RGD
REN117117  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,187,375 - 2,187,626UniSTSGRCh37
Build 36112,143,951 - 2,144,202RGDNCBI36
Celera112,223,968 - 2,224,219RGD
HuRef111,977,641 - 1,977,894UniSTS
REN117118  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,187,898 - 2,188,171UniSTSGRCh37
Build 36112,144,474 - 2,144,747RGDNCBI36
Celera112,224,491 - 2,224,764RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,978,166 - 1,978,439UniSTS
REN117119  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,188,149 - 2,188,375UniSTSGRCh37
Build 36112,144,725 - 2,144,951RGDNCBI36
Celera112,224,742 - 2,224,968RGD
HuRef111,978,417 - 1,978,643UniSTS
REN117120  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,188,425 - 2,188,678UniSTSGRCh37
Build 36112,145,001 - 2,145,254RGDNCBI36
Celera112,225,018 - 2,225,271RGD
HuRef111,978,693 - 1,978,946UniSTS
REN117121  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,188,771 - 2,188,996UniSTSGRCh37
Build 36112,145,347 - 2,145,572RGDNCBI36
Celera112,225,364 - 2,225,589RGD
HuRef111,979,039 - 1,979,264UniSTS
REN117122  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,189,007 - 2,189,276UniSTSGRCh37
Build 36112,145,583 - 2,145,852RGDNCBI36
Celera112,225,600 - 2,225,869RGD
HuRef111,979,275 - 1,979,544UniSTS
REN117123  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,189,264 - 2,189,490UniSTSGRCh37
Build 36112,145,840 - 2,146,066RGDNCBI36
Celera112,225,857 - 2,226,083RGD
HuRef111,979,532 - 1,979,758UniSTS
REN117124  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,189,476 - 2,189,724UniSTSGRCh37
Build 36112,146,052 - 2,146,300RGDNCBI36
Celera112,226,069 - 2,226,317RGD
HuRef111,979,744 - 1,979,992UniSTS
REN117125  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,189,700 - 2,189,927UniSTSGRCh37
Build 36112,146,276 - 2,146,503RGDNCBI36
Celera112,226,293 - 2,226,520RGD
HuRef111,979,968 - 1,980,195UniSTS
REN117126  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,190,025 - 2,190,266UniSTSGRCh37
Build 36112,146,601 - 2,146,842RGDNCBI36
Celera112,226,618 - 2,226,859RGD
HuRef111,980,293 - 1,980,534UniSTS
REN117127  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,190,243 - 2,190,508UniSTSGRCh37
Build 36112,146,819 - 2,147,084RGDNCBI36
Celera112,226,836 - 2,227,101RGD
HuRef111,980,511 - 1,980,776UniSTS
REN117128  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,190,485 - 2,190,758UniSTSGRCh37
Build 36112,147,061 - 2,147,334RGDNCBI36
Celera112,227,078 - 2,227,351RGD
HuRef111,980,753 - 1,981,026UniSTS
REN117129  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,190,955 - 2,191,216UniSTSGRCh37
Build 36112,147,531 - 2,147,792RGDNCBI36
Celera112,227,548 - 2,227,809RGD
HuRef111,981,223 - 1,981,484UniSTS
REN117130  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,191,198 - 2,191,449UniSTSGRCh37
Build 36112,147,774 - 2,148,025RGDNCBI36
Celera112,227,791 - 2,228,042RGD
HuRef111,981,466 - 1,981,717UniSTS
REN117131  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,191,428 - 2,191,686UniSTSGRCh37
Build 36112,148,004 - 2,148,262RGDNCBI36
Celera112,228,021 - 2,228,279RGD
HuRef111,981,696 - 1,981,954UniSTS
REN117132  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,191,663 - 2,191,922UniSTSGRCh37
Build 36112,148,239 - 2,148,498RGDNCBI36
Celera112,228,256 - 2,228,515RGD
HuRef111,981,931 - 1,982,190UniSTS
REN117133  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,191,902 - 2,192,140UniSTSGRCh37
Build 36112,148,478 - 2,148,716RGDNCBI36
Celera112,228,495 - 2,228,733RGD
HuRef111,982,170 - 1,982,408UniSTS
REN117134  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,192,116 - 2,192,364UniSTSGRCh37
Build 36112,148,692 - 2,148,940RGDNCBI36
Celera112,228,709 - 2,228,953RGD
HuRef111,982,384 - 1,982,628UniSTS
REN117135  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,192,341 - 2,192,603UniSTSGRCh37
Build 36112,148,917 - 2,149,179RGDNCBI36
Celera112,228,930 - 2,229,192RGD
HuRef111,982,605 - 1,982,867UniSTS
REN117136  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,192,621 - 2,192,870UniSTSGRCh37
Build 36112,149,197 - 2,149,446RGDNCBI36
Celera112,229,210 - 2,229,459RGD
HuRef111,982,885 - 1,983,134UniSTS
REN117137  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,193,014 - 2,193,259UniSTSGRCh37
Build 36112,149,590 - 2,149,835RGDNCBI36
Celera112,229,603 - 2,229,848RGD
HuRef111,983,278 - 1,983,523UniSTS
REN117138  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,193,236 - 2,193,491UniSTSGRCh37
Build 36112,149,812 - 2,150,067RGDNCBI36
Celera112,229,825 - 2,230,080RGD
HuRef111,983,500 - 1,983,755UniSTS
REN117139  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,193,475 - 2,193,723UniSTSGRCh37
Build 36112,150,051 - 2,150,299RGDNCBI36
Celera112,230,064 - 2,230,312RGD
HuRef111,983,739 - 1,983,987UniSTS
REN117140  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,193,704 - 2,193,973UniSTSGRCh37
Build 36112,150,280 - 2,150,549RGDNCBI36
Celera112,230,293 - 2,230,562RGD
HuRef111,983,968 - 1,984,237UniSTS
REN117141  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,193,955 - 2,194,204UniSTSGRCh37
Build 36112,150,531 - 2,150,780RGDNCBI36
Celera112,230,544 - 2,230,793RGD
HuRef111,984,219 - 1,984,468UniSTS
REN117142  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,194,191 - 2,194,450UniSTSGRCh37
Build 36112,150,767 - 2,151,026RGDNCBI36
Celera112,230,780 - 2,231,039RGD
HuRef111,984,455 - 1,984,714UniSTS
REN117143  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,194,445 - 2,194,694UniSTSGRCh37
Build 36112,151,021 - 2,151,270RGDNCBI36
Celera112,231,034 - 2,231,283RGD
HuRef111,984,709 - 1,984,958UniSTS
REN117144  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,194,683 - 2,194,920UniSTSGRCh37
Build 36112,151,259 - 2,151,496RGDNCBI36
Celera112,231,272 - 2,231,509RGD
HuRef111,984,947 - 1,985,184UniSTS
TH  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,191,909 - 2,192,009UniSTSGRCh37
Build 36112,148,485 - 2,148,585RGDNCBI36
Celera112,228,502 - 2,228,602RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,982,177 - 1,982,277UniSTS
GeneMap99-GB4 RH Map1122.72UniSTS
NCBI RH Map1110.0UniSTS
HUMTH01  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,192,220 - 2,192,381UniSTSGRCh37
Build 36112,148,796 - 2,148,957RGDNCBI36
Celera112,228,813 - 2,228,970RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,982,488 - 1,982,645UniSTS
stSG548738  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,188,992 - 2,190,501UniSTSGRCh37
Build 36112,145,568 - 2,147,077RGDNCBI36
Celera112,225,585 - 2,227,094RGD
HuRef111,979,260 - 1,980,769UniSTS
stSG548739  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,190,482 - 2,190,673UniSTSGRCh37
Build 36112,147,058 - 2,147,249RGDNCBI36
Celera112,227,075 - 2,227,266RGD
HuRef111,980,750 - 1,980,941UniSTS
stSG548741  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,192,158 - 2,193,803UniSTSGRCh37
Build 36112,148,734 - 2,150,379RGDNCBI36
Celera112,228,751 - 2,230,392RGD
HuRef111,982,426 - 1,984,067UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
955 2251 2119 1515 4584 1539 1900 4 501 793 354 1893 4679 4343 18 3496 639 1645 1291 159 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001440535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001440536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001440537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_199292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_199293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA447751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC132217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF536811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH003014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH003205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY144494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY144495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY211521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC104967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM718799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D00269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ677336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ677337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ403012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ403013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ403014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L15440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M17589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M20911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M20912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M23597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M24790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X05290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y00414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000324155   ⟹   ENSP00000325831
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl112,165,294 - 2,171,805 (-)Ensembl
Ensembl Acc Id: ENST00000333684   ⟹   ENSP00000328814
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl112,163,929 - 2,171,805 (-)Ensembl
Ensembl Acc Id: ENST00000352909   ⟹   ENSP00000325951
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl112,163,929 - 2,171,815 (-)Ensembl
Ensembl Acc Id: ENST00000381168   ⟹   ENSP00000370560
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl112,166,007 - 2,171,805 (-)Ensembl
Ensembl Acc Id: ENST00000381175   ⟹   ENSP00000370567
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl112,163,929 - 2,171,805 (-)Ensembl
Ensembl Acc Id: ENST00000381178   ⟹   ENSP00000370571
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl112,163,929 - 2,171,805 (-)Ensembl
Ensembl Acc Id: ENST00000412076   ⟹   ENSP00000403546
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl112,165,679 - 2,168,106 (-)Ensembl
Ensembl Acc Id: ENST00000416223   ⟹   ENSP00000403440
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl112,165,679 - 2,168,106 (-)Ensembl
Ensembl Acc Id: ENST00000461172
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl112,165,853 - 2,166,774 (-)Ensembl
Ensembl Acc Id: ENST00000469226
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl112,166,894 - 2,168,726 (-)Ensembl
Ensembl Acc Id: ENST00000479437
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl112,165,672 - 2,167,276 (-)Ensembl
Ensembl Acc Id: ENST00000853117   ⟹   ENSP00000523176
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl112,163,931 - 2,171,968 (-)Ensembl
Ensembl Acc Id: ENST00000941211   ⟹   ENSP00000611270
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl112,163,930 - 2,171,816 (-)Ensembl
Ensembl Acc Id: ENST00000941212   ⟹   ENSP00000611271
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl112,163,932 - 2,171,814 (-)Ensembl
RefSeq Acc Id: NM_000360   ⟹   NP_000351
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38112,163,929 - 2,171,815 (-)NCBI
GRCh37112,185,159 - 2,193,107 (-)NCBI
Build 36112,141,735 - 2,149,611 (-)NCBI Archive
HuRef111,975,424 - 1,983,299 (-)ENTREZGENE
CHM1_1112,183,941 - 2,191,817 (-)NCBI
T2T-CHM13v2.0112,253,295 - 2,261,192 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001440535   ⟹   NP_001427464
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38112,163,929 - 2,171,815 (-)NCBI
T2T-CHM13v2.0112,253,295 - 2,261,192 (-)NCBI
RefSeq Acc Id: NM_001440536   ⟹   NP_001427465
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38112,163,929 - 2,171,815 (-)NCBI
T2T-CHM13v2.0112,253,295 - 2,261,192 (-)NCBI
RefSeq Acc Id: NM_001440537   ⟹   NP_001427466
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38112,163,929 - 2,171,815 (-)NCBI
T2T-CHM13v2.0112,253,295 - 2,261,192 (-)NCBI
RefSeq Acc Id: NM_199292   ⟹   NP_954986
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38112,163,929 - 2,171,815 (-)NCBI
GRCh37112,185,159 - 2,193,107 (-)NCBI
Build 36112,141,735 - 2,149,611 (-)NCBI Archive
HuRef111,975,424 - 1,983,299 (-)ENTREZGENE
CHM1_1112,183,941 - 2,191,817 (-)NCBI
T2T-CHM13v2.0112,253,295 - 2,261,192 (-)NCBI
Sequence:
RefSeq Acc Id: NM_199293   ⟹   NP_954987
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38112,163,929 - 2,171,815 (-)NCBI
GRCh37112,185,159 - 2,193,107 (-)NCBI
Build 36112,141,735 - 2,149,611 (-)NCBI Archive
HuRef111,975,424 - 1,983,299 (-)ENTREZGENE
CHM1_1112,183,941 - 2,191,817 (-)NCBI
T2T-CHM13v2.0112,253,295 - 2,261,192 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000351 (Get FASTA)   NCBI Sequence Viewer  
  NP_001427464 (Get FASTA)   NCBI Sequence Viewer  
  NP_001427465 (Get FASTA)   NCBI Sequence Viewer  
  NP_001427466 (Get FASTA)   NCBI Sequence Viewer  
  NP_954986 (Get FASTA)   NCBI Sequence Viewer  
  NP_954987 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA61167 (Get FASTA)   NCBI Sequence Viewer  
  AAA61168 (Get FASTA)   NCBI Sequence Viewer  
  AAA61170 (Get FASTA)   NCBI Sequence Viewer  
  AAA61171 (Get FASTA)   NCBI Sequence Viewer  
  AAA61172 (Get FASTA)   NCBI Sequence Viewer  
  AAA61173 (Get FASTA)   NCBI Sequence Viewer  
  AAA61174 (Get FASTA)   NCBI Sequence Viewer  
  AAA61179 (Get FASTA)   NCBI Sequence Viewer  
  AAA77649 (Get FASTA)   NCBI Sequence Viewer  
  AAA77650 (Get FASTA)   NCBI Sequence Viewer  
  AAA77651 (Get FASTA)   NCBI Sequence Viewer  
  AAI04968 (Get FASTA)   NCBI Sequence Viewer  
  AAI43612 (Get FASTA)   NCBI Sequence Viewer  
  AAI43615 (Get FASTA)   NCBI Sequence Viewer  
  AAN39538 (Get FASTA)   NCBI Sequence Viewer  
  AAN39539 (Get FASTA)   NCBI Sequence Viewer  
  AAN73289 (Get FASTA)   NCBI Sequence Viewer  
  AAN73290 (Get FASTA)   NCBI Sequence Viewer  
  AAP43671 (Get FASTA)   NCBI Sequence Viewer  
  ABG73364 (Get FASTA)   NCBI Sequence Viewer  
  ABG73365 (Get FASTA)   NCBI Sequence Viewer  
  BAA25094 (Get FASTA)   NCBI Sequence Viewer  
  BAA25095 (Get FASTA)   NCBI Sequence Viewer  
  BAA25096 (Get FASTA)   NCBI Sequence Viewer  
  BAA25097 (Get FASTA)   NCBI Sequence Viewer  
  CAA28908 (Get FASTA)   NCBI Sequence Viewer  
  CAA68472 (Get FASTA)   NCBI Sequence Viewer  
  EAX02490 (Get FASTA)   NCBI Sequence Viewer  
  EAX02491 (Get FASTA)   NCBI Sequence Viewer  
  EAX02492 (Get FASTA)   NCBI Sequence Viewer  
  EAX02493 (Get FASTA)   NCBI Sequence Viewer  
  EAX02494 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000325951
  ENSP00000325951.4
  ENSP00000328814
  ENSP00000328814.6
  ENSP00000370567
  ENSP00000370567.1
  ENSP00000370571
  ENSP00000370571.1
  ENSP00000523176
GenBank Protein P07101 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_000351   ⟸   NM_000360
- Peptide Label: isoform b
- UniProtKB: P07101 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_954987   ⟸   NM_199293
- Peptide Label: isoform c
- UniProtKB: P07101 (UniProtKB/Swiss-Prot),   P78428 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_954986   ⟸   NM_199292
- Peptide Label: isoform a
- UniProtKB: Q15589 (UniProtKB/Swiss-Prot),   Q15588 (UniProtKB/Swiss-Prot),   Q15585 (UniProtKB/Swiss-Prot),   Q0PWM3 (UniProtKB/Swiss-Prot),   Q0PWM2 (UniProtKB/Swiss-Prot),   B7ZL73 (UniProtKB/Swiss-Prot),   B7ZL70 (UniProtKB/Swiss-Prot),   Q2M3B4 (UniProtKB/Swiss-Prot),   P07101 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000403546   ⟸   ENST00000412076
Ensembl Acc Id: ENSP00000328814   ⟸   ENST00000333684
Ensembl Acc Id: ENSP00000403440   ⟸   ENST00000416223
Ensembl Acc Id: ENSP00000325831   ⟸   ENST00000324155
Ensembl Acc Id: ENSP00000325951   ⟸   ENST00000352909
Ensembl Acc Id: ENSP00000370560   ⟸   ENST00000381168
Ensembl Acc Id: ENSP00000370571   ⟸   ENST00000381178
Ensembl Acc Id: ENSP00000370567   ⟸   ENST00000381175
RefSeq Acc Id: NP_001427466   ⟸   NM_001440537
- Peptide Label: isoform f
RefSeq Acc Id: NP_001427465   ⟸   NM_001440536
- Peptide Label: isoform e
RefSeq Acc Id: NP_001427464   ⟸   NM_001440535
- Peptide Label: isoform d
Ensembl Acc Id: ENSP00000611270   ⟸   ENST00000941211
Ensembl Acc Id: ENSP00000611271   ⟸   ENST00000941212
Ensembl Acc Id: ENSP00000523176   ⟸   ENST00000853117

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P07101-F1-model_v2 AlphaFold P07101 1-528 view protein structure

Promoters
RGD ID:6849766
Promoter ID:EP30008
Type:single initiation site
Name:HS_TH
Description:Tyrosin hydroxylase.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Notes:homology_group=Homology group 164; Rat tyrosine hydroxylase
Tissues & Cell Lines:certain neurons, adrenal medulla
Experiment Methods:Primer extension
Position:
Human AssemblyChrPosition (strand)Source
Build 36112,149,621 - 2,149,681EPD
RGD ID:7219335
Promoter ID:EPDNEW_H15413
Type:multiple initiation site
Name:TH_1
Description:tyrosine hydroxylase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38112,171,815 - 2,171,875EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11782 AgrOrtholog
COSMIC TH COSMIC
Ensembl Genes ENSG00000180176 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000333684 ENTREZGENE
  ENST00000333684.9 UniProtKB/Swiss-Prot
  ENST00000352909 ENTREZGENE
  ENST00000352909.8 UniProtKB/Swiss-Prot
  ENST00000381175 ENTREZGENE
  ENST00000381175.5 UniProtKB/Swiss-Prot
  ENST00000381178 ENTREZGENE
  ENST00000381178.5 UniProtKB/Swiss-Prot
  ENST00000853117 ENTREZGENE
Gene3D-CATH 1.10.800.10 UniProtKB/Swiss-Prot
  3.30.70.260 UniProtKB/Swiss-Prot
GTEx ENSG00000180176 GTEx
HGNC ID HGNC:11782 ENTREZGENE
Human Proteome Map TH Human Proteome Map
InterPro ACT-like_dom_sf UniProtKB/Swiss-Prot
  ArAA_hydroxylase UniProtKB/Swiss-Prot
  ArAA_hydroxylase_Fe/CU_BS UniProtKB/Swiss-Prot
  ArAA_hydroxylase_sf UniProtKB/Swiss-Prot
  Aro-AA_hydroxylase_C_sf UniProtKB/Swiss-Prot
  Aromatic-AA_hydroxylase_C UniProtKB/Swiss-Prot
  Eu_TyrOH_cat UniProtKB/Swiss-Prot
  TH_ACT UniProtKB/Swiss-Prot
  Tyr_3_mOase UniProtKB/Swiss-Prot
  Tyrosine_3-monooxygenase-like UniProtKB/Swiss-Prot
  Tyrosine_hydroxylase_CS UniProtKB/Swiss-Prot
KEGG Report hsa:7054 UniProtKB/Swiss-Prot
NCBI Gene 7054 ENTREZGENE
OMIM 191290 OMIM
PANTHER PTHR11473 UniProtKB/Swiss-Prot
  TYROSINE 3-MONOOXYGENASE UniProtKB/Swiss-Prot
Pfam Biopterin_H UniProtKB/Swiss-Prot
  TH_ACT UniProtKB/Swiss-Prot
  TOH_N UniProtKB/Swiss-Prot
PharmGKB PA351 PharmGKB
PIRSF PIRSF000336 UniProtKB/Swiss-Prot
PRINTS FYWHYDRXLASE UniProtKB/Swiss-Prot
PROSITE BH4_AAA_HYDROXYL_1 UniProtKB/Swiss-Prot
  BH4_AAA_HYDROXYL_2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF55021 UniProtKB/Swiss-Prot
  SSF56534 UniProtKB/Swiss-Prot
UniProt B7ZL70 ENTREZGENE
  B7ZL73 ENTREZGENE
  E7EQI0_HUMAN UniProtKB/TrEMBL
  F8W8M5_HUMAN UniProtKB/TrEMBL
  H0Y670_HUMAN UniProtKB/TrEMBL
  H0Y677_HUMAN UniProtKB/TrEMBL
  P07101 ENTREZGENE
  P78428 ENTREZGENE, UniProtKB/TrEMBL
  Q0PWM2 ENTREZGENE
  Q0PWM3 ENTREZGENE
  Q15585 ENTREZGENE
  Q15588 ENTREZGENE
  Q15589 ENTREZGENE
  Q2M3B4 ENTREZGENE
  Q7KZ36_HUMAN UniProtKB/TrEMBL
  Q7KZ38_HUMAN UniProtKB/TrEMBL
  Q7KZ39_HUMAN UniProtKB/TrEMBL
  Q7KZ44_HUMAN UniProtKB/TrEMBL
  Q9UQ57_HUMAN UniProtKB/TrEMBL
  TY3H_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B7ZL70 UniProtKB/Swiss-Prot
  B7ZL73 UniProtKB/Swiss-Prot
  Q0PWM2 UniProtKB/Swiss-Prot
  Q0PWM3 UniProtKB/Swiss-Prot
  Q15585 UniProtKB/Swiss-Prot
  Q15588 UniProtKB/Swiss-Prot
  Q15589 UniProtKB/Swiss-Prot
  Q2M3B4 UniProtKB/Swiss-Prot