XDH (xanthine dehydrogenase) - Rat Genome Database

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Gene: XDH (xanthine dehydrogenase) Homo sapiens
Analyze
Symbol: XDH
Name: xanthine dehydrogenase
RGD ID: 1348452
HGNC Page HGNC:12805
Description: Enables several functions, including 2 iron, 2 sulfur cluster binding activity; molybdopterin cofactor binding activity; and oxidoreductase activity, acting on CH or CH2 groups. Involved in several processes, including nucleobase-containing small molecule metabolic process; regulation of macromolecule metabolic process; and regulation of signal transduction. Located in extracellular space. Is active in cytosol. Implicated in several diseases, including Lesch-Nyhan syndrome; cardiovascular system disease (multiple); chronic kidney disease; hyperuricemia; and xanthinuria type I. Biomarker of laryngeal squamous cell carcinoma and multiple myeloma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: XAN1; xanthene dehydrogenase; xanthine dehydrogenase/oxidase; xanthine oxidase; xanthine oxidoreductase; XO; XOR
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-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
GRCh38231,334,321 - 31,414,742 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl231,334,321 - 31,414,742 (-)EnsemblGRCh38hg38GRCh38
GRCh37231,557,187 - 31,637,608 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36231,410,692 - 31,491,115 (-)NCBINCBI36Build 36hg18NCBI36
Build 34231,470,146 - 31,549,264NCBI
Celera231,399,873 - 31,481,045 (-)NCBICelera
Cytogenetic Map2p23.1NCBI
HuRef231,294,906 - 31,375,846 (-)NCBIHuRef
CHM1_1231,487,808 - 31,568,252 (-)NCBICHM1_1
T2T-CHM13v2.0231,378,697 - 31,459,436 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
acute kidney failure  (ISO)
Acute Lung Injury  (ISO)
Animal Mammary Neoplasms  (EXP)
Arterial Thrombosis  (ISO)
autistic disorder  (EXP)
Autoinflammation with Infantile Enterocolitis  (IAGP)
Brain Injuries  (ISO)
Carbon Monoxide Poisoning  (ISO)
carcinoma  (EXP)
cardiomyopathy  (ISO)
cardiovascular system disease  (IMP)
carotid artery disease  (IAGP)
cataract  (IAGP,ISO)
cholestasis  (ISO)
chronic kidney disease  (IAGP,ISO)
Colonic Neoplasms  (ISO)
congestive heart failure  (EXP)
Diabetic Cardiomyopathies  (ISO)
Diabetic Nephropathies  (ISO)
Dwarfism  (IAGP)
Eczema  (IAGP)
Experimental Arthritis  (ISO)
Experimental Diabetes Mellitus  (ISO)
Experimental Liver Neoplasms  (ISO)
Experimental Mammary Neoplasms  (EXP)
familial cold autoinflammatory syndrome 4  (IAGP)
Fetal Growth Retardation  (IAGP)
genetic disease  (IAGP)
gout  (EXP)
heart disease  (EXP)
hepatocellular carcinoma  (ISO)
hereditary spastic paraplegia 4  (IAGP)
hydronephrosis  (IAGP)
Hyperoxaluria  (ISO)
Hyperoxic Lung Injury  (ISO)
hypertension  (IAGP,IMP,ISO)
hyperuricemia  (EXP,IMP,ISO)
Hypotension  (ISO)
interstitial nephritis  (ISO)
Intestinal Reperfusion Injury  (ISO)
ischemia  (EXP)
kidney failure  (ISO)
Kidney Reperfusion Injury  (ISO)
laryngeal squamous cell carcinoma  (IEP)
Left Ventricular Hypertrophy  (IMP)
Lesch-Nyhan syndrome  (IMP)
Liver Reperfusion Injury  (ISO)
major depressive disorder  (EXP)
middle cerebral artery infarction  (EXP)
multiple myeloma  (IEP)
Multiple Organ Failure  (EXP)
muscular disease  (ISO)
Myocardial Reperfusion Injury  (ISO)
Nerve Degeneration  (EXP)
neutropenia  (IAGP)
obesity  (ISO)
pancreatitis  (ISO)
Penetrating Wounds  (ISO)
peritonitis  (ISO)
Pneumoperitoneum  (ISO)
portal hypertension  (ISO)
protein-losing enteropathy  (IAGP)
Pseudovaginal Perineoscrotal Hypospadias  (IAGP)
pulmonary embolism  (EXP)
Puromycin Aminonucleoside Nephrosis  (ISO)
renal fibrosis  (ISO)
Renal Ischemia  (ISO)
Reperfusion Injury  (EXP,ISO)
Retina Reperfusion Injury  (ISO)
Sepsis  (ISO)
Shock  (ISO)
Spinal Cord Injuries  (ISO)
Testis Reperfusion Injury  (ISO)
thrombocytopenia  (EXP,IAGP)
Transplant Rejection  (ISO)
Urachal Cyst  (IAGP)
urinary bladder cancer  (IDA)
xanthinuria  (IAGP)
xanthinuria type I  (EXP,IAGP)
xanthinuria type II  (IAGP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-taxifolin  (EXP,ISO)
(R)-adrenaline  (ISO)
(R)-lipoic acid  (ISO)
(R)-noradrenaline  (ISO)
(S)-naringenin  (ISO)
(S)-nicotine  (ISO)
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1,4-dithiothreitol  (ISO)
1-methyl-7H-xanthine  (EXP)
1-methyluric acid  (EXP)
1-naphthyl isothiocyanate  (ISO)
11-deoxycorticosterone  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-diaminotoluene  (ISO)
2,4-dinitrotoluene  (ISO)
2-acetamidofluorene  (ISO)
2-amino-2-deoxy-D-galactopyranose  (ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
2-hydroxypropanoic acid  (EXP)
2-nitroanisole  (EXP)
2-nitrofluorene  (ISO)
3',5'-cyclic GMP  (ISO)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,7-dihydropurine-6-thione  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
3-methylcholanthrene  (ISO)
3-phenylprop-2-enal  (ISO)
4'-epidoxorubicin  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (ISO)
4-hydroxynon-2-enal  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5,6-dichloro-1-beta-D-ribofuranosyl-1H-benzimidazole  (ISO)
5,6-dichlorobenzimidazole riboside  (ISO)
5-azaorotic acid  (ISO)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
7,9-dihydro-1H-purine-2,6,8(3H)-trione  (EXP,ISO)
7H-xanthine  (EXP,ISO)
9H-xanthine  (EXP,ISO)
acetaldehyde  (EXP)
acetic acid  (ISO)
Aeol 10150  (ISO)
aflatoxin B1  (EXP,ISO)
Aflatoxin B2 alpha  (EXP)
aldehydo-D-glucosamine  (ISO)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (ISO)
allantoin  (ISO)
allopurinol  (EXP,ISO)
alloxan  (ISO)
alloxanthine  (ISO)
aluminium atom  (ISO)
aluminium(0)  (ISO)
amitrole  (ISO)
ammonium acetate  (ISO)
ammonium chloride  (ISO)
anthocyanin  (ISO)
apocynin  (ISO)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
aspartame  (ISO)
avobenzone  (EXP)
baicalein  (ISO)
baicalin  (ISO)
Benoxacor  (ISO)
benzo[a]pyrene  (EXP,ISO)
Benzoyl peroxide  (ISO)
beta-D-glucosamine  (ISO)
beta-naphthoflavone  (ISO)
bezafibrate  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
bosentan  (EXP)
buspirone  (ISO)
butanal  (EXP)
Butylbenzyl phthalate  (ISO)
C60 fullerene  (ISO)
cadmium dichloride  (EXP)
caffeine  (EXP)
carbon monoxide  (ISO)
carbon nanotube  (ISO)
carboplatin  (ISO)
carvacrol  (ISO)
Chloramine  (ISO)
chloroprene  (ISO)
chlorpyrifos  (ISO)
chlorzoxazone  (EXP)
chromium(6+)  (ISO)
cis-caffeic acid  (ISO)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
cobalt dichloride  (ISO)
cocaine  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
cordycepin  (EXP)
crocidolite asbestos  (EXP)
curcumin  (ISO)
cycloartenol  (ISO)
cyclophosphamide  (ISO)
cyclosporin A  (EXP)
cyhalothrin  (ISO)
D-glucose  (ISO)
DDE  (EXP)
DDT  (ISO)
dehydroepiandrosterone  (ISO)
dexamethasone  (ISO)
dextran sulfate  (ISO)
dextromethorphan  (EXP)
diallyl trisulfide  (EXP,ISO)
dibutyl phthalate  (ISO)
diethyl phthalate  (ISO)
diethylstilbestrol  (ISO)
diisobutyl phthalate  (ISO)
diisononyl phthalate  (ISO)
diisopropyl fluorophosphate  (ISO)
diosmin  (ISO)
dioxygen  (EXP,ISO)
diquat  (ISO)
diuron  (ISO)
dizocilpine maleate  (ISO)
doxorubicin  (ISO)
edaravone  (ISO)
endosulfan  (ISO)
enzyme inhibitor  (ISO)
epoxiconazole  (ISO)
erdosteine  (ISO)
ethanol  (EXP,ISO)
ethylenediaminetetraacetic acid  (ISO)
Evodiamine  (ISO)
febuxostat  (EXP)
fipronil  (ISO)
flavonoids  (ISO)
fluocinolone acetonide  (ISO)
fluoranthene  (ISO)
formaldehyde  (EXP)
fructose  (EXP,ISO)
gallic acid  (ISO)
genistein  (ISO)
glucose  (ISO)
glutathione  (ISO)
glyburide  (ISO)
hydrogen peroxide  (EXP,ISO)
hydroxyl  (EXP)
hydroxytyrosol  (ISO)
hypoxanthine  (EXP,ISO)
indometacin  (EXP,ISO)
isoprenaline  (ISO)
isotretinoin  (ISO)
L-1,4-dithiothreitol  (ISO)
L-ascorbic acid  (EXP)
L-glutamine  (ISO)
L-methionine  (ISO)
lead(0)  (EXP)
lipoic acid  (ISO)
lipopolysaccharide  (ISO)
liraglutide  (EXP)
Lithospermic acid  (ISO)
lupeol  (ISO)
luteolin  (ISO)
mercaptopurine  (ISO)
Mesaconitine  (ISO)
methamphetamine  (ISO)
methapyrilene  (ISO)
methimazole  (ISO)
methylglyoxal  (EXP)
methylisothiazolinone  (EXP)
mitomycin C  (EXP)
molybdate  (EXP)
monosodium L-glutamate  (ISO)
myo-inositol hexakisphosphate  (ISO)
myricetin  (ISO)
N-acetyl-L-cysteine  (EXP)
N-acetyl-L-tryptophan  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nefazodone  (ISO)
nickel atom  (EXP)
nicorandil  (ISO)
nicotine  (ISO)
nitric oxide  (EXP)
nitroprusside  (ISO)
O-methyleugenol  (EXP)
obeticholic acid  (EXP)
ochratoxin A  (EXP)
palytoxin  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
pentachlorophenol  (ISO)
pentanal  (EXP)
pentetrazol  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctanoic acid  (ISO)
permethrin  (EXP)
phenobarbital  (ISO)
PhIP  (ISO)
phorbol 13-acetate 12-myristate  (ISO)
piperonyl butoxide  (ISO)
pirinixic acid  (EXP,ISO)
Potassium 2,6-dihydroxytriazinecarboxylate  (ISO)
potassium bromate  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP,ISO)
propanal  (EXP)
propiconazole  (ISO)
purine-6-thiol  (ISO)
quercetin  (EXP,ISO)
rac-lactic acid  (EXP)
raloxifene  (EXP)
reactive oxygen species  (EXP,ISO)
resveratrol  (ISO)
rotenone  (EXP,ISO)
rutin  (ISO)
SB 203580  (ISO)
Senkirkine  (EXP)
serotonin  (EXP)
silicon dioxide  (EXP,ISO)
silver atom  (ISO)
silver(0)  (ISO)
sodium acetate trihydrate  (ISO)
sodium arsenate  (EXP)
sodium arsenite  (EXP,ISO)
sodium benzoate  (ISO)
sodium disulfite  (ISO)
sodium fluoride  (ISO)
sodium molybdate (anhydrous)  (EXP)
sodium nitrate  (ISO)
sodium tungstate  (EXP,ISO)
streptozocin  (ISO)
sulfadimethoxine  (ISO)
superoxide  (EXP)
taurine  (ISO)
testosterone  (ISO)
Testosterone propionate  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
toluene  (ISO)
trans-caffeic acid  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
trovafloxacin  (ISO)
tubocurarine  (ISO)
tungsten  (EXP,ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vitamin E  (ISO)
zearalenone  (ISO)
zinc atom  (EXP,ISO)
zinc sulfate  (ISO)
zinc(0)  (EXP,ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IEA)
cytosol  (IDA,IEA,TAS)
extracellular region  (IEA)
extracellular space  (HDA,IBA,ISO)
peroxisome  (IEA,ISO)
sarcoplasmic reticulum  (IEA)

References

References - curated
# Reference Title Reference Citation
1. Activities of xanthine oxidoreductase and antioxidant enzymes in different tissues of diabetic rats. Aliciguzel Y, etal., J Lab Clin Med 2003 Sep;142(3):172-7.
2. Hypovolemic shock promotes neutrophil sequestration in lungs by a xanthine oxidase-related mechanism. Anderson BO, etal., J Appl Physiol (1985). 1991 Nov;71(5):1862-5.
3. Lipid peroxidation and antioxidant enzyme activities in cancerous bladder tissue and their relation with bacterial infection: a controlled clinical study. Bayraktar N, etal., J Clin Lab Anal. 2010;24(1):25-30. doi: 10.1002/jcla.20356.
4. Modification of the xanthine-converting enzyme of perfused rat heart during ischemia and oxidative stress. Bindoli A, etal., Free Radic Biol Med. 1988;4(3):163-7.
5. Effects of imperatorin, the active component from Radix Angelicae (Baizhi), on the blood pressure and oxidative stress in 2K,1C hypertensive rats. Cao YJ, etal., Phytomedicine. 2013 Jun 6. pii: S0944-7113(13)00199-2. doi: 10.1016/j.phymed.2013.04.021.
6. Polydatin ameliorates renal injury by attenuating oxidative stress-related inflammatory responses in fructose-induced urate nephropathic mice. Chen L, etal., Food Chem Toxicol. 2013 Feb;52:28-35. doi: 10.1016/j.fct.2012.10.037. Epub 2012 Nov 5.
7. [Study on Therapeutic Effects of Ermiao Pill and Ermiao Pill Categorized Formula in Hyperuricemic Rats Using Spectroscopic Methods]. Chen WJ, etal., Guang Pu Xue Yu Guang Pu Fen Xi. 2015 Apr;35(4):956-60.
8. Lack of conversion of xanthine dehydrogenase to xanthine oxidase during warm renal ischemia. Cighetti G, etal., FEBS Lett. 1990 Nov 12;274(1-2):82-4.
9. Protective effect of endogenous hydrogen sulfide against oxidative stress in gastric ischemia-reperfusion injury. Cui J, etal., Exp Ther Med. 2013 Mar;5(3):689-694. Epub 2012 Dec 20.
10. Taurine ameliorates alloxan-induced diabetic renal injury, oxidative stress-related signaling pathways and apoptosis in rats. Das J and Sil PC, Amino Acids. 2012 Oct;43(4):1509-23.
11. The effects of Nigella sativa oil, thymoquinone, propolis, and caffeic acid phenethyl ester on radiation-induced cataract. Demir E, etal., Wien Klin Wochenschr. 2016 Dec;128(Suppl 8):587-595. doi: 10.1007/s00508-015-0736-4. Epub 2015 Apr 10.
12. Lung oxidant changes after zymosan peritonitis: relationship between physiologic and biochemical changes. Demling R, etal., Am Rev Respir Dis. 1992 Nov;146(5 Pt 1):1272-8.
13. The effect of acute nonbacterial dependent peritonitis on lung and liver oxidant stress and antioxidant activity. Demling R, etal., Surgery. 1993 Sep;114(3):571-8.
14. Adenosine deaminase, 5' nucleotidase, xanthine oxidase, superoxide dismutase, and catalase activities in cancerous and noncancerous human laryngeal tissues. Durak I, etal., Free Radic Biol Med. 1993 Dec;15(6):681-4. doi: 10.1016/0891-5849(93)90174-s.
15. Xanthine oxidase inhibition alleviates the cardiac complications of insulin resistance: effect on low grade inflammation and the angiotensin system. El-Bassossy HM and Watson ML, J Transl Med. 2015 Mar 6;13:82. doi: 10.1186/s12967-015-0445-9.
16. Hyperoxia and xanthine dehydrogenase/oxidase activities in rat lung and heart. Elsayed NM and Tierney DF, Arch Biochem Biophys. 1989 Sep;273(2):281-6.
17. Effect of allopurinol on blood pressure of adolescents with newly diagnosed essential hypertension: a randomized trial. Feig DI, etal., JAMA. 2008 Aug 27;300(8):924-32. doi: 10.1001/jama.300.8.924.
18. Remote ischemic preconditioning differentially affects NADPH oxidase isoforms during hepatic ischemia-reperfusion. Garab D, etal., Life Sci. 2014 Jun 6;105(1-2):14-21. doi: 10.1016/j.lfs.2014.04.014. Epub 2014 Apr 24.
19. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
20. Mobilization of xanthine oxidase from the gastrointestinal tract in acute pancreatitis. Granell S, etal., BMC Gastroenterol. 2004 Jan 19;4:1.
21. Xanthine oxidoreductase and neurological sequelae of carbon monoxide poisoning. Han ST, etal., Toxicol Lett. 2007 Apr 25;170(2):111-5. Epub 2007 Feb 20.
22. Upregulation of xanthine oxidase by lipopolysaccharide, interleukin-1, and hypoxia. Role in acute lung injury. Hassoun PM, etal., Am J Respir Crit Care Med. 1998 Jul;158(1):299-305.
23. The prophylactic protective effect of sesamol against ferric-nitrilotriacetate-induced acute renal injury in mice. Hsu DZ, etal., Food Chem Toxicol. 2008 Aug;46(8):2736-41. doi: 10.1016/j.fct.2008.04.029. Epub 2008 Apr 29.
24. [The protective effects of carbachol on visceral ischemia-induced lipid peroxidation injury in rats with sepsis]. Hu S, etal., Zhongguo Wei Zhong Bing Ji Jiu Yi Xue. 2009 Sep;21(9):552-4.
25. High Sodium-Induced Oxidative Stress and Poor Anticrystallization Defense Aggravate Calcium Oxalate Crystal Formation in Rat Hyperoxaluric Kidneys. Huang HS and Ma MC, PLoS One. 2015 Aug 4;10(8):e0134764. doi: 10.1371/journal.pone.0134764. eCollection 2015.
26. Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria. Ichida K, etal., J Clin Invest. 1997 May 15;99(10):2391-7.
27. Decreased concentration of xanthine dehydrogenase (EC 1.1.1.204) in rat hepatomas. Ikegami T, etal., Cancer Res. 1986 Aug;46(8):3838-41.
28. The efficacy and safety of febuxostat for urate lowering in gout patients >/=65 years of age. Jackson RL, etal., BMC Geriatr. 2012 Mar 21;12:11. doi: 10.1186/1471-2318-12-11.
29. Allopurinol benefits left ventricular mass and endothelial dysfunction in chronic kidney disease. Kao MP, etal., J Am Soc Nephrol. 2011 Jul;22(7):1382-9. doi: 10.1681/ASN.2010111185. Epub 2011 Jun 30.
30. Antioxidant and antiapoptotic effects of darbepoetin-a against traumatic brain injury in rats. Kertmen H, etal., Arch Med Sci. 2015 Oct 12;11(5):1119-28. doi: 10.5114/aoms.2015.54869.
31. Mannitol attenuates kidney damage induced by xanthine oxidase-associated pancreas ischemia-reperfusion. Khoury W, etal., J Surg Res. 2010 May 1;160(1):163-8. doi: 10.1016/j.jss.2008.10.016. Epub 2008 Dec 30.
32. Renal oxidative stress following CO2 pneumoperitoneum-like conditions. Khoury W, etal., Surg Endosc. 2009 Apr;23(4):776-82. doi: 10.1007/s00464-008-0054-2. Epub 2008 Jul 16.
33. Serum level of Xanthine oxidase, Uric Acid, and NADPH oxidase1 in Stage I of Multiple Myeloma. Kohsari M, etal., Asian Pac J Cancer Prev. 2020 Aug 1;21(8):2237-2242. doi: 10.31557/APJCP.2020.21.8.2237.
34. Effect of lowering uric acid on renal disease in the type 2 diabetic db/db mice. Kosugi T, etal., Am J Physiol Renal Physiol. 2009 Aug;297(2):F481-8. doi: 10.1152/ajprenal.00092.2009. Epub 2009 May 20.
35. Role of xanthine oxidoreductase in the anti-thrombotic effects of nitrite in rats in vivo. Kramkowski K, etal., Platelets. 2016;27(3):245-53. doi: 10.3109/09537104.2015.1083545. Epub 2015 Sep 16.
36. Multiple antioxidants improve cardiac complications and inhibit cardiac cell death in streptozotocin-induced diabetic rats. Kumar S, etal., PLoS One. 2013 Jul 2;8(7):e67009. doi: 10.1371/journal.pone.0067009. Print 2013.
37. Xanthine oxidase activity in intestinal tumors induced by 1,2-dimethylhydrazine dihydrochloride. Mitidieri E, etal., Arch Geschwulstforsch. 1988;58(2):79-80.
38. New developments in anthracycline-induced cardiotoxicity. Mordente A, etal., Curr Med Chem. 2009;16(13):1656-72.
39. Xanthine oxidoreductase depletion induces renal interstitial fibrosis through aberrant lipid and purine accumulation in renal tubules. Ohtsubo T, etal., Hypertension. 2009 Oct;54(4):868-76. doi: 10.1161/HYPERTENSIONAHA.109.135152. Epub 2009 Aug 10.
40. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
41. Use of xanthine oxidase inhibitor febuxostat inhibits renal interstitial inflammation and fibrosis in unilateral ureteral obstructive nephropathy. Omori H, etal., Clin Exp Nephrol. 2012 Aug;16(4):549-56. doi: 10.1007/s10157-012-0609-3. Epub 2012 Feb 18.
42. Sialic acid supplementation ameliorates puromycin aminonucleoside nephrosis in rats. Pawluczyk IZ, etal., Lab Invest. 2015 Sep;95(9):1019-28. doi: 10.1038/labinvest.2015.78. Epub 2015 Jun 29.
43. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
44. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
45. A mouse model of early-onset renal failure due to a xanthine dehydrogenase nonsense mutation. Piret SE, etal., PLoS One. 2012;7(9):e45217. Epub 2012 Sep 14.
46. Malignant transformation-linked imbalance: decreased xanthine oxidase activity in hepatomas. Prajda N and Weber G, FEBS Lett. 1975 Nov 15;59(2):245-9.
47. The role of xanthine oxidase in platelet activating factor induced intestinal injury in the rat. Qu XW, etal., Gut. 1999 Feb;44(2):203-11.
48. The role of xanthine oxidase and xanthine dehydrogenase in skin ischemia. Rees R, etal., J Surg Res. 1994 Feb;56(2):162-7.
49. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
50. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
51. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
52. Concentrations of adenosine and its metabolites in the rat retina/choroid during reperfusion after ischemia. Roth S, etal., Curr Eye Res. 1997 Sep;16(9):875-85.
53. A tungsten supplemented diet attenuates bacterial translocation in chronic portal hypertensive and cholestatic rats: role of xanthine dehydrogenase and xanthine oxidase. Schimpl G, etal., Gut. 1999 Dec;45(6):904-10.
54. The impact of hepatic xanthine oxidase and xanthine dehydrogenase activities on liver function in chronic cholestasis. Schimpl G, etal., Pediatr Surg Int. 2000;16(4):297-301.
55. Febuxostat improves the local and remote organ changes induced by intestinal ischemia/reperfusion in rats. Shafik AN, Dig Dis Sci. 2013 Mar;58(3):650-9. doi: 10.1007/s10620-012-2391-1. Epub 2012 Sep 26.
56. Simultaneous treatment with citrate prevents nephropathy induced by FYX-051, a xanthine oxidoreductase inhibitor, in rats. Shimo T, etal., Toxicol Sci. 2005 Sep;87(1):267-76. Epub 2005 Jun 2.
57. The xanthine oxidase inhibitor oxypurinol reduces cancer cachexia-induced cardiomyopathy. Springer J, etal., Int J Cardiol. 2013 Jun 7. pii: S0167-5273(13)00991-1. doi: 10.1016/j.ijcard.2013.05.063.
58. Nephroprotective efficacy of chrysin against cisplatin-induced toxicity via attenuation of oxidative stress. Sultana S, etal., J Pharm Pharmacol. 2012 Jun;64(6):872-81. doi: 10.1111/j.2042-7158.2012.01470.x. Epub 2012 Mar 22.
59. Nicorandil, a K(atp) channel opener, alleviates chronic renal injury by targeting podocytes and macrophages. Tamura Y, etal., Am J Physiol Renal Physiol. 2012 Aug 1;303(3):F339-49. doi: 10.1152/ajprenal.00158.2012. Epub 2012 May 23.
60. Effect of allopurinol on cardiovascular incidence among hypertensive nephropathy patients: the Gonryo study. Terawaki H, etal., Clin Exp Nephrol. 2012 Nov 29.
61. Leukocytes in carbon monoxide-mediated brain oxidative injury. Thom SR, Toxicol Appl Pharmacol. 1993 Dec;123(2):234-47.
62. Efficacy and safety of allopurinol in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency. Torres RJ, etal., Metabolism. 2007 Sep;56(9):1179-86.
63. Febuxostat suppressed renal ischemia-reperfusion injury via reduced oxidative stress. Tsuda H, etal., Biochem Biophys Res Commun. 2012 Oct 19;427(2):266-72. doi: 10.1016/j.bbrc.2012.09.032. Epub 2012 Sep 17.
64. Exaggerated liver injury induced by renal ischemia reperfusion in diabetes: effect of exenatide. Vaghasiya JD, etal., Saudi J Gastroenterol. 2010 Jul-Sep;16(3):174-80. doi: 10.4103/1319-3767.65187.
65. Xanthine oxidase activity in the dexamethasone-induced hypertensive rat. Wallwork CJ, etal., Microvasc Res. 2003 Jul;66(1):30-7.
66. Quercetin Protects against Cadmium-Induced Renal Uric Acid Transport System Alteration and Lipid Metabolism Disorder in Rats. Wang J, etal., Evid Based Complement Alternat Med. 2012;2012:548430. doi: 10.1155/2012/548430. Epub 2012 May 29.
67. Oxidative state and oxidative metabolism in the brain of rats with adjuvant-induced arthritis. Wendt MM, etal., Exp Mol Pathol. 2015 Jun;98(3):549-57. doi: 10.1016/j.yexmp.2015.04.002. Epub 2015 Apr 11.
68. Dietary nicotinamide supplementation increases xanthine oxidoreductase activity in the kidney and heart but not liver of obese Zucker rats. Wu X and Wang M, J Nutr. 1995 Jul;125(7):1841-6.
69. Xanthine oxidase in experimental spinal cord injury. Xu J, etal., J Neurotrauma. 1991 Spring;8(1):11-8.
70. Associations of hypertension and its complications with variations in the xanthine dehydrogenase gene. Yang J, etal., Hypertens Res. 2008 May;31(5):931-40. doi: 10.1291/hypres.31.931.
71. Lipid peroxidation and changes in cytochrome c oxidase and xanthine oxidase activity in organophosphorus anticholinesterase induced myopathy. Yang ZP and Dettbarn WD, J Physiol Paris. 1998 Jun-Aug;92(3-4):157-61.
72. Hypouricemic effect of the methanol extract from Prunus mume fruit in mice. Yi LT, etal., Pharm Biol. 2012 Nov;50(11):1423-7. doi: 10.3109/13880209.2012.683115. Epub 2012 Sep 11.
73. Hyperbaric Oxygen Therapy in Rats Attenuates Ischemia-reperfusion Testicular Injury Through Blockade of Oxidative Stress, Suppression of Inflammation, and Reduction of Nitric Oxide Formation. Zhang Y, etal., Urology. 2013 Jun 12. pii: S0090-4295(13)00472-X. doi: 10.1016/j.urology.2013.04.016.
Additional References at PubMed
PMID:1619276   PMID:7575623   PMID:7829092   PMID:7956358   PMID:7956361   PMID:8135849   PMID:8224915   PMID:8373410   PMID:8661045   PMID:8670112   PMID:8829220   PMID:9023782  
PMID:9388748   PMID:10968141   PMID:11034305   PMID:11960915   PMID:11993848   PMID:12080414   PMID:12168784   PMID:12456835   PMID:12637268   PMID:12774669   PMID:14761964   PMID:15451061  
PMID:16502470   PMID:16758302   PMID:16935971   PMID:17081983   PMID:17301077   PMID:17523077   PMID:17622935   PMID:17906999   PMID:18300946   PMID:18386220   PMID:18569334   PMID:18635756  
PMID:18649358   PMID:18678861   PMID:18767115   PMID:18772145   PMID:18775690   PMID:18818408   PMID:18821156   PMID:18823306   PMID:18840375   PMID:19196876   PMID:19423540   PMID:19500084  
PMID:19505917   PMID:19531472   PMID:19539448   PMID:19567609   PMID:19628957   PMID:19693777   PMID:19765958   PMID:19898482   PMID:20077140   PMID:20346360   PMID:20360068   PMID:20406964  
PMID:20438785   PMID:20570389   PMID:20930425   PMID:21059659   PMID:21150319   PMID:21382276   PMID:21644044   PMID:21775420   PMID:21826556   PMID:21873635   PMID:21963464   PMID:22029190  
PMID:22044687   PMID:22105431   PMID:22168506   PMID:22266962   PMID:22495427   PMID:22678977   PMID:22981351   PMID:23142692   PMID:23249873   PMID:23251661   PMID:23315321   PMID:23340314  
PMID:23443115   PMID:23597150   PMID:23819009   PMID:23892358   PMID:24024171   PMID:24092361   PMID:24357442   PMID:24506204   PMID:24591758   PMID:24967004   PMID:25044064   PMID:25185415  
PMID:25200751   PMID:25463089   PMID:25501928   PMID:25537183   PMID:25582077   PMID:25800347   PMID:26029922   PMID:26119820   PMID:26239312   PMID:26342297   PMID:26353179   PMID:26426087  
PMID:26687331   PMID:26863601   PMID:27295433   PMID:27494876   PMID:27607461   PMID:27965983   PMID:28031169   PMID:28223196   PMID:28299863   PMID:28403945   PMID:28514442   PMID:28797123  
PMID:28839105   PMID:28863172   PMID:29414774   PMID:29551504   PMID:29643318   PMID:29733945   PMID:29843539   PMID:30104401   PMID:30312761   PMID:30695690   PMID:31093763   PMID:31233715  
PMID:31235130   PMID:31578733   PMID:31586073   PMID:31927504   PMID:32296183   PMID:32342210   PMID:32807901   PMID:32908640   PMID:33211396   PMID:33961781   PMID:34082427   PMID:34171392  
PMID:34229066   PMID:34349018   PMID:34619144   PMID:34631016   PMID:35154100   PMID:35164526   PMID:35717455   PMID:35831314   PMID:35916133   PMID:36724073   PMID:36739755   PMID:37258622  
PMID:37415141   PMID:37713777   PMID:38334954  


Genomics

Comparative Map Data
XDH
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38231,334,321 - 31,414,742 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl231,334,321 - 31,414,742 (-)EnsemblGRCh38hg38GRCh38
GRCh37231,557,187 - 31,637,608 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36231,410,692 - 31,491,115 (-)NCBINCBI36Build 36hg18NCBI36
Build 34231,470,146 - 31,549,264NCBI
Celera231,399,873 - 31,481,045 (-)NCBICelera
Cytogenetic Map2p23.1NCBI
HuRef231,294,906 - 31,375,846 (-)NCBIHuRef
CHM1_1231,487,808 - 31,568,252 (-)NCBICHM1_1
T2T-CHM13v2.0231,378,697 - 31,459,436 (-)NCBIT2T-CHM13v2.0
Xdh
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391774,190,890 - 74,257,191 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1774,190,890 - 74,257,191 (-)EnsemblGRCm39 Ensembl
GRCm381773,883,895 - 73,950,397 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1773,883,895 - 73,950,196 (-)EnsemblGRCm38mm10GRCm38
MGSCv371774,233,248 - 74,299,522 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361773,788,790 - 73,855,081 (-)NCBIMGSCv36mm8
Celera1778,175,030 - 78,239,710 (-)NCBICelera
Cytogenetic Map17E2NCBI
cM Map1745.25NCBI
Xdh
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8627,282,319 - 27,344,022 (+)NCBIGRCr8
mRatBN7.2621,530,463 - 21,592,172 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl621,530,113 - 21,592,268 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx621,859,036 - 21,920,809 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0622,174,874 - 22,236,649 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0621,655,317 - 21,717,086 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0625,149,570 - 25,211,273 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl625,149,235 - 25,211,494 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0634,996,983 - 35,059,195 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4621,417,685 - 21,590,015 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1621,420,637 - 21,592,968 (+)NCBI
Celera621,081,179 - 21,143,279 (+)NCBICelera
Cytogenetic Map6q13NCBI
XDH
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21295,076,064 - 95,156,263 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A95,080,039 - 95,160,238 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A31,356,011 - 31,435,111 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A31,425,183 - 31,504,455 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A31,425,183 - 31,504,455 (-)Ensemblpanpan1.1panPan2
XDH
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11724,900,708 - 24,960,748 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1724,901,447 - 24,971,935 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1724,694,965 - 24,754,929 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01725,464,496 - 25,524,534 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1725,465,095 - 25,524,434 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11724,767,742 - 24,827,816 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01724,830,189 - 24,890,224 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01724,929,639 - 24,989,647 (-)NCBIUU_Cfam_GSD_1.0
Xdh
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629269,015,034 - 69,076,787 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364931,762,869 - 1,823,238 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364931,762,814 - 1,824,501 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
XDH
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl3107,987,126 - 108,053,169 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.13107,987,060 - 108,052,043 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.23114,732,427 - 114,796,636 (+)NCBISscrofa10.2Sscrofa10.2susScr3
XDH
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11476,084,693 - 76,162,840 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1476,085,368 - 76,163,936 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604535,902,856 - 35,979,384 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Xdh
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473813,115,982 - 13,181,352 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473813,116,317 - 13,180,935 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in XDH
727 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000379.4(XDH):c.495+236G>A single nucleotide variant not provided [RCV001665005] Chr2:31397432 [GRCh38]
Chr2:31620298 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.2567del (p.Thr856fs) deletion Hereditary xanthinuria type 1 [RCV000003089] Chr2:31364222 [GRCh38]
Chr2:31587088 [GRCh37]
Chr2:2p23.1
pathogenic
NM_000379.4(XDH):c.1172C>T (p.Pro391Leu) single nucleotide variant Protein-losing enteropathy [RCV000735382] Chr2:31379937 [GRCh38]
Chr2:31602803 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.682C>T (p.Arg228Ter) single nucleotide variant Hereditary xanthinuria type 1 [RCV000003088]|Xanthinuria type II [RCV001383575] Chr2:31386525 [GRCh38]
Chr2:31609391 [GRCh37]
Chr2:2p23.1
pathogenic
NM_000379.4(XDH):c.445C>T (p.Arg149Cys) single nucleotide variant Hereditary xanthinuria type 1 [RCV000003090] Chr2:31397718 [GRCh38]
Chr2:31620584 [GRCh37]
Chr2:2p23.1
pathogenic|likely pathogenic
GRCh38/hg38 2p25.3-23.1(chr2:30141-31766749)x3 copy number gain See cases [RCV000052929] Chr2:30141..31766749 [GRCh38]
Chr2:30141..31991818 [GRCh37]
Chr2:20141..31845322 [NCBI36]
Chr2:2p25.3-23.1
pathogenic
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 copy number gain See cases [RCV000052933] Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1
pathogenic
GRCh38/hg38 2p23.1-22.3(chr2:31368632-32087629)x1 copy number loss See cases [RCV000053980] Chr2:31368632..32087629 [GRCh38]
Chr2:31591498..32312698 [GRCh37]
Chr2:31445002..32166202 [NCBI36]
Chr2:2p23.1-22.3
pathogenic
GRCh38/hg38 2p23.1-22.3(chr2:31370181-32512769)x1 copy number loss See cases [RCV000053981] Chr2:31370181..32512769 [GRCh38]
Chr2:31593047..32737836 [GRCh37]
Chr2:31446551..32591340 [NCBI36]
Chr2:2p23.1-22.3
pathogenic
NM_000379.4(XDH):c.2146G>A (p.Glu716Lys) single nucleotide variant Xanthinuria type II [RCV001969708] Chr2:31368012 [GRCh38]
Chr2:31590878 [GRCh37]
Chr2:31444382 [NCBI36]
Chr2:2p23.1
uncertain significance|not provided
NM_000379.4(XDH):c.2145C>T (p.Ile715=) single nucleotide variant Xanthinuria type II [RCV003592111] Chr2:31368013 [GRCh38]
Chr2:31590879 [GRCh37]
Chr2:31444383 [NCBI36]
Chr2:2p23.1
likely benign|not provided
NM_000379.4(XDH):c.1597G>A (p.Glu533Lys) single nucleotide variant Hereditary xanthinuria type 1 [RCV001137881]|Inborn genetic diseases [RCV004019077]|Xanthinuria type II [RCV001854258]|not provided [RCV004724789] Chr2:31375385 [GRCh38]
Chr2:31598251 [GRCh37]
Chr2:31451755 [NCBI36]
Chr2:2p23.1
uncertain significance|not provided
NM_000379.4(XDH):c.1089C>T (p.Pro363=) single nucleotide variant Xanthinuria type II [RCV003831110] Chr2:31381676 [GRCh38]
Chr2:31604542 [GRCh37]
Chr2:31458046 [NCBI36]
Chr2:2p23.1
likely benign|not provided
NM_000379.3(XDH):c.411G>A (p.Glu137=) single nucleotide variant Malignant melanoma [RCV000065564] Chr2:31398595 [GRCh38]
Chr2:31621461 [GRCh37]
Chr2:31474965 [NCBI36]
Chr2:2p23.1
not provided
NM_000379.3(XDH):c.288G>A (p.Thr96=) single nucleotide variant Malignant melanoma [RCV000065565] Chr2:31401238 [GRCh38]
Chr2:31624104 [GRCh37]
Chr2:31477608 [NCBI36]
Chr2:2p23.1
not provided
NM_000379.3(XDH):c.3532G>A (p.Asp1178Asn) single nucleotide variant Malignant melanoma [RCV000060555] Chr2:31341382 [GRCh38]
Chr2:31564248 [GRCh37]
Chr2:31417752 [NCBI36]
Chr2:2p23.1
not provided
NM_000379.3(XDH):c.3341G>A (p.Trp1114Ter) single nucleotide variant Malignant melanoma [RCV000060556] Chr2:31346779 [GRCh38]
Chr2:31569645 [GRCh37]
Chr2:31423149 [NCBI36]
Chr2:2p23.1
not provided
NM_000379.3(XDH):c.434G>A (p.Gly145Glu) single nucleotide variant Malignant melanoma [RCV000060557] Chr2:31397729 [GRCh38]
Chr2:31620595 [GRCh37]
Chr2:31474099 [NCBI36]
Chr2:2p23.1
not provided
inv(2)(p21p23.2) inversion Endometrial carcinoma [RCV000659263] Chr2:29447680..42554394 [GRCh37]
Chr2:2p23.2-21
likely pathogenic
NM_000379.4(XDH):c.3276+12A>G single nucleotide variant Hereditary xanthinuria type 1 [RCV000606899]|Xanthinuria type II [RCV000986611]|not provided [RCV001706107]|not specified [RCV000250552] Chr2:31347510 [GRCh38]
Chr2:31570376 [GRCh37]
Chr2:2p23.1
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_000379.4(XDH):c.565-1G>A single nucleotide variant Xanthinuria type II [RCV003071300] Chr2:31387898 [GRCh38]
Chr2:31610764 [GRCh37]
Chr2:2p23.1
pathogenic|likely pathogenic
NM_000379.4(XDH):c.636dup (p.Pro213fs) duplication Hereditary xanthinuria type 1 [RCV001294167] Chr2:31387825..31387826 [GRCh38]
Chr2:31610691..31610692 [GRCh37]
Chr2:2p23.1
pathogenic
GRCh38/hg38 2p23.1(chr2:31327058-31353154)x3 copy number gain See cases [RCV000140136] Chr2:31327058..31353154 [GRCh38]
Chr2:31549924..31576020 [GRCh37]
Chr2:31403428..31429524 [NCBI36]
Chr2:2p23.1
likely benign
GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3 copy number gain See cases [RCV000141829] Chr2:12770..33711509 [GRCh38]
Chr2:12770..33936576 [GRCh37]
Chr2:2770..33790080 [NCBI36]
Chr2:2p25.3-22.3
pathogenic
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2
benign
GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 copy number gain See cases [RCV000143682] Chr2:236816..45983232 [GRCh38]
Chr2:236816..46210371 [GRCh37]
Chr2:226816..46063875 [NCBI36]
Chr2:2p25.3-21
pathogenic
NM_000379.4(XDH):c.*518A>G single nucleotide variant Hereditary xanthinuria type 1 [RCV000264983]|not provided [RCV004708608] Chr2:31335440 [GRCh38]
Chr2:31558306 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.1274C>G (p.Ser425Cys) single nucleotide variant Hereditary xanthinuria type 1 [RCV000259874]|Xanthinuria type II [RCV000972440] Chr2:31377206 [GRCh38]
Chr2:31600072 [GRCh37]
Chr2:2p23.1
likely benign|uncertain significance
NM_000379.4(XDH):c.2634T>C (p.Ile878=) single nucleotide variant Hereditary xanthinuria type 1 [RCV000273894]|XDH-related disorder [RCV003932334]|Xanthinuria type II [RCV000968296]|not provided [RCV001729548] Chr2:31350221 [GRCh38]
Chr2:31573087 [GRCh37]
Chr2:2p23.1
benign|likely benign|uncertain significance
NM_000379.4(XDH):c.1936A>G (p.Ile646Val) single nucleotide variant Hereditary xanthinuria type 1 [RCV000283952]|Xanthinuria type II [RCV001520564]|not provided [RCV001565210] Chr2:31370399 [GRCh38]
Chr2:31593265 [GRCh37]
Chr2:2p23.1
benign|likely benign
NM_000379.4(XDH):c.*1477A>G single nucleotide variant Hereditary xanthinuria type 1 [RCV000284186]|not provided [RCV004709923] Chr2:31334481 [GRCh38]
Chr2:31557347 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.2176G>C (p.Glu726Gln) single nucleotide variant Hereditary xanthinuria type 1 [RCV000285527] Chr2:31367982 [GRCh38]
Chr2:31590848 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.3717G>A (p.Glu1239=) single nucleotide variant Hereditary xanthinuria type 1 [RCV000385518]|Xanthinuria type II [RCV001519628]|not provided [RCV001682973]|not specified [RCV000253683] Chr2:31339546 [GRCh38]
Chr2:31562412 [GRCh37]
Chr2:2p23.1
benign|likely benign
NM_000379.4(XDH):c.2211C>T (p.Ile737=) single nucleotide variant Hereditary xanthinuria type 1 [RCV000315915]|Xanthinuria type II [RCV001519624]|not provided [RCV001675689]|not specified [RCV000249202] Chr2:31366981 [GRCh38]
Chr2:31589847 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.3030T>C (p.Phe1010=) single nucleotide variant Hereditary xanthinuria type 1 [RCV000269283]|Xanthinuria type II [RCV001511108]|not provided [RCV001682972]|not specified [RCV000253979] Chr2:31348920 [GRCh38]
Chr2:31571786 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.2107A>G (p.Ile703Val) single nucleotide variant Hereditary xanthinuria type 1 [RCV000342566]|Xanthinuria type II [RCV001520563]|not provided [RCV001651124]|not specified [RCV000244442] Chr2:31368051 [GRCh38]
Chr2:31590917 [GRCh37]
Chr2:2p23.1
benign|likely benign
NM_000379.4(XDH):c.1184A>T (p.Lys395Met) single nucleotide variant Hereditary xanthinuria type 1 [RCV000268600]|Xanthinuria type II [RCV000644558]|not provided [RCV001535051] Chr2:31379925 [GRCh38]
Chr2:31602791 [GRCh37]
Chr2:2p23.1
benign|likely benign
NM_000379.4(XDH):c.1686+8C>T single nucleotide variant Hereditary xanthinuria type 1 [RCV000275466]|Xanthinuria type II [RCV001520565]|not provided [RCV001564224] Chr2:31373865 [GRCh38]
Chr2:31596731 [GRCh37]
Chr2:2p23.1
benign|likely benign
NM_000379.4(XDH):c.3875A>G (p.Lys1292Arg) single nucleotide variant Hereditary xanthinuria type 1 [RCV000275829]|XDH-related disorder [RCV003932331]|Xanthinuria type II [RCV000887728]|not provided [RCV004710895] Chr2:31337717 [GRCh38]
Chr2:31560583 [GRCh37]
Chr2:2p23.1
likely benign|uncertain significance
NM_000379.4(XDH):c.3052-12C>G single nucleotide variant Hereditary xanthinuria type 1 [RCV000366071]|Xanthinuria type II [RCV001518107]|not provided [RCV001689792]|not specified [RCV000245806] Chr2:31348375 [GRCh38]
Chr2:31571241 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.*1516C>T single nucleotide variant Hereditary xanthinuria type 1 [RCV000266490]|not provided [RCV004708607] Chr2:31334442 [GRCh38]
Chr2:31557308 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.*41G>C single nucleotide variant Hereditary xanthinuria type 1 [RCV000273081]|not provided [RCV001534219] Chr2:31335917 [GRCh38]
Chr2:31558783 [GRCh37]
Chr2:2p23.1
benign|likely benign
NM_000379.4(XDH):c.3847C>T (p.Arg1283Ter) single nucleotide variant Hereditary xanthinuria type 1 [RCV000333311]|Xanthinuria type II [RCV001387749]|not provided [RCV002461092] Chr2:31337745 [GRCh38]
Chr2:31560611 [GRCh37]
Chr2:2p23.1
pathogenic|uncertain significance
NM_000379.4(XDH):c.530C>A (p.Pro177Gln) single nucleotide variant Hereditary xanthinuria type 1 [RCV000351566]|Inborn genetic diseases [RCV004678683] Chr2:31388261 [GRCh38]
Chr2:31611127 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.2488C>T (p.Arg830Cys) single nucleotide variant Hereditary xanthinuria type 1 [RCV000374223] Chr2:31365513 [GRCh38]
Chr2:31588379 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.1629C>T (p.Phe543=) single nucleotide variant Hereditary xanthinuria type 1 [RCV000300168]|Xanthinuria type II [RCV000970543]|not provided [RCV003409532] Chr2:31373930 [GRCh38]
Chr2:31596796 [GRCh37]
Chr2:2p23.1
benign|likely benign|uncertain significance
NM_000379.4(XDH):c.1749G>A (p.Ala583=) single nucleotide variant Hereditary xanthinuria type 1 [RCV000315328]|Xanthinuria type II [RCV002057693] Chr2:31372335 [GRCh38]
Chr2:31595201 [GRCh37]
Chr2:2p23.1
likely benign|uncertain significance
NM_000379.4(XDH):c.3277-13del deletion Xanthinuria [RCV000375095] Chr2:31346856 [GRCh38]
Chr2:31569722 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.1990G>A (p.Val664Ile) single nucleotide variant Hereditary xanthinuria type 1 [RCV000376243]|XDH-related disorder [RCV003912413]|Xanthinuria type II [RCV000973669] Chr2:31368651 [GRCh38]
Chr2:31591517 [GRCh37]
Chr2:2p23.1
benign|uncertain significance
NM_000379.4(XDH):c.1857-4G>A single nucleotide variant Hereditary xanthinuria type 1 [RCV000398364]|Xanthinuria type II [RCV000960535]|not provided [RCV003422313] Chr2:31370482 [GRCh38]
Chr2:31593348 [GRCh37]
Chr2:2p23.1
benign|likely benign|uncertain significance
NM_000379.4(XDH):c.*1555G>T single nucleotide variant Hereditary xanthinuria type 1 [RCV000354241]|not provided [RCV004708606] Chr2:31334403 [GRCh38]
Chr2:31557269 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.3249C>T (p.Ser1083=) single nucleotide variant Hereditary xanthinuria type 1 [RCV000400119]|XDH-related disorder [RCV003932332]|Xanthinuria type II [RCV002057691] Chr2:31347549 [GRCh38]
Chr2:31570415 [GRCh37]
Chr2:2p23.1
likely benign|uncertain significance
NM_000379.4(XDH):c.*878T>C single nucleotide variant Hereditary xanthinuria type 1 [RCV000301440] Chr2:31335080 [GRCh38]
Chr2:31557946 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.1243-7C>G single nucleotide variant Hereditary xanthinuria type 1 [RCV000317392]|Xanthinuria type II [RCV002057694] Chr2:31377244 [GRCh38]
Chr2:31600110 [GRCh37]
Chr2:2p23.1
likely benign|uncertain significance
NM_000379.4(XDH):c.3271G>C (p.Val1091Leu) single nucleotide variant Hereditary xanthinuria type 1 [RCV000335626]|XDH-related disorder [RCV003950161]|Xanthinuria type II [RCV000881041] Chr2:31347527 [GRCh38]
Chr2:31570393 [GRCh37]
Chr2:2p23.1
benign|likely benign|uncertain significance
NM_000379.4(XDH):c.-66G>C single nucleotide variant Hereditary xanthinuria type 1 [RCV000336658]|not provided [RCV004721333] Chr2:31414732 [GRCh38]
Chr2:31637598 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.837C>T (p.Val279=) single nucleotide variant Hereditary xanthinuria type 1 [RCV000378255]|Xanthinuria type II [RCV001519625]|not provided [RCV001643031] Chr2:31383804 [GRCh38]
Chr2:31606670 [GRCh37]
Chr2:2p23.1
benign|likely benign
NM_000379.4(XDH):c.*945C>A single nucleotide variant Hereditary xanthinuria type 1 [RCV000400774] Chr2:31335013 [GRCh38]
Chr2:31557879 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.3647C>A (p.Pro1216His) single nucleotide variant Hereditary xanthinuria type 1 [RCV000336876]|Protein-losing enteropathy [RCV000735383]|Xanthinuria type II [RCV001240018]|not provided [RCV003480605] Chr2:31339616 [GRCh38]
Chr2:31562482 [GRCh37]
Chr2:2p23.1
conflicting interpretations of pathogenicity|uncertain significance
NM_000379.4(XDH):c.1509C>G (p.Gly503=) single nucleotide variant Hereditary xanthinuria type 1 [RCV000357432]|Xanthinuria type II [RCV001511109]|not provided [RCV001683341] Chr2:31375473 [GRCh38]
Chr2:31598339 [GRCh37]
Chr2:2p23.1
benign|likely benign
NM_000379.4(XDH):c.617C>T (p.Pro206Leu) single nucleotide variant Hereditary xanthinuria type 1 [RCV000381572]|Xanthinuria type II [RCV002523132] Chr2:31387845 [GRCh38]
Chr2:31610711 [GRCh37]
Chr2:2p23.1
likely benign|uncertain significance
NM_000379.4(XDH):c.606G>A (p.Thr202=) single nucleotide variant Hereditary xanthinuria type 1 [RCV000289556]|Xanthinuria type II [RCV002519967] Chr2:31387856 [GRCh38]
Chr2:31610722 [GRCh37]
Chr2:2p23.1
likely benign|uncertain significance
NM_000379.4(XDH):c.*705CT[1] microsatellite Xanthinuria [RCV000305036] Chr2:31335250..31335251 [GRCh38]
Chr2:31558116..31558117 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.3084C>T (p.Gly1028=) single nucleotide variant Hereditary xanthinuria type 1 [RCV000339350]|Xanthinuria type II [RCV000966444]|not provided [RCV001618593] Chr2:31348331 [GRCh38]
Chr2:31571197 [GRCh37]
Chr2:2p23.1
benign|likely benign
NM_000379.4(XDH):c.1242+7T>C single nucleotide variant Hereditary xanthinuria type 1 [RCV000360380] Chr2:31379860 [GRCh38]
Chr2:31602726 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.3930C>T (p.Cys1310=) single nucleotide variant Hereditary xanthinuria type 1 [RCV000382813]|Xanthinuria type II [RCV000905670]|not provided [RCV003409530] Chr2:31337662 [GRCh38]
Chr2:31560528 [GRCh37]
Chr2:2p23.1
likely benign|uncertain significance
NM_000379.4(XDH):c.825T>C (p.Phe275=) single nucleotide variant Hereditary xanthinuria type 1 [RCV000290893]|Xanthinuria type II [RCV000971724] Chr2:31383816 [GRCh38]
Chr2:31606682 [GRCh37]
Chr2:2p23.1
likely benign|uncertain significance
NM_000379.4(XDH):c.3148-4G>T single nucleotide variant Hereditary xanthinuria type 1 [RCV000305386] Chr2:31347654 [GRCh38]
Chr2:31570520 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.1134C>T (p.Gly378=) single nucleotide variant Hereditary xanthinuria type 1 [RCV000321399]|Xanthinuria type II [RCV000644557]|not provided [RCV001712064] Chr2:31379975 [GRCh38]
Chr2:31602841 [GRCh37]
Chr2:2p23.1
benign|likely benign
NM_000379.4(XDH):c.*699C>T single nucleotide variant Hereditary xanthinuria type 1 [RCV000362032] Chr2:31335259 [GRCh38]
Chr2:31558125 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.1856+7G>A single nucleotide variant Hereditary xanthinuria type 1 [RCV000306483]|Xanthinuria type II [RCV000968777]|not provided [RCV003409531] Chr2:31372221 [GRCh38]
Chr2:31595087 [GRCh37]
Chr2:2p23.1
benign|likely benign|uncertain significance
NM_000379.4(XDH):c.*475A>C single nucleotide variant Hereditary xanthinuria type 1 [RCV000322471] Chr2:31335483 [GRCh38]
Chr2:31558349 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.*1494A>G single nucleotide variant Hereditary xanthinuria type 1 [RCV000324020] Chr2:31334464 [GRCh38]
Chr2:31557330 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.*938G>T single nucleotide variant Hereditary xanthinuria type 1 [RCV000293147] Chr2:31335020 [GRCh38]
Chr2:31557886 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.405C>T (p.Thr135=) single nucleotide variant Hereditary xanthinuria type 1 [RCV000293407]|Xanthinuria type II [RCV000973896] Chr2:31398601 [GRCh38]
Chr2:31621467 [GRCh37]
Chr2:2p23.1
benign|uncertain significance
NM_000379.4(XDH):c.3665C>T (p.Thr1222Ile) single nucleotide variant Hereditary xanthinuria type 1 [RCV000293327]|Xanthinuria type II [RCV001066610]|not provided [RCV004694557] Chr2:31339598 [GRCh38]
Chr2:31562464 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.2911G>A (p.Glu971Lys) single nucleotide variant Hereditary xanthinuria type 1 [RCV000307998] Chr2:31349744 [GRCh38]
Chr2:31572610 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.3052-4C>T single nucleotide variant Hereditary xanthinuria type 1 [RCV000309015]|Xanthinuria type II [RCV000902914]|not provided [RCV001729547] Chr2:31348367 [GRCh38]
Chr2:31571233 [GRCh37]
Chr2:2p23.1
likely benign|uncertain significance
NM_000379.4(XDH):c.3937A>G (p.Lys1313Glu) single nucleotide variant Hereditary xanthinuria type 1 [RCV000325910]|Xanthinuria type II [RCV000960624] Chr2:31337655 [GRCh38]
Chr2:31560521 [GRCh37]
Chr2:2p23.1
benign|likely benign|uncertain significance
NM_000379.4(XDH):c.1800C>T (p.Tyr600=) single nucleotide variant Hereditary xanthinuria type 1 [RCV000344904]|Xanthinuria type II [RCV001498392] Chr2:31372284 [GRCh38]
Chr2:31595150 [GRCh37]
Chr2:2p23.1
likely benign|uncertain significance
NM_000379.4(XDH):c.*404C>T single nucleotide variant Hereditary xanthinuria type 1 [RCV000365363] Chr2:31335554 [GRCh38]
Chr2:31558420 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.1687-8C>A single nucleotide variant Hereditary xanthinuria type 1 [RCV000367641] Chr2:31372405 [GRCh38]
Chr2:31595271 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.514G>A (p.Gly172Arg) single nucleotide variant Hereditary xanthinuria type 1 [RCV000390279]|Xanthinuria type II [RCV001519627]|not provided [RCV001541170] Chr2:31388277 [GRCh38]
Chr2:31611143 [GRCh37]
Chr2:2p23.1
benign|likely benign
NM_000379.4(XDH):c.3059C>T (p.Ala1020Val) single nucleotide variant Hereditary xanthinuria type 1 [RCV000391997] Chr2:31348356 [GRCh38]
Chr2:31571222 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.627G>A (p.Glu209=) single nucleotide variant Hereditary xanthinuria type 1 [RCV000329364]|Xanthinuria type II [RCV001519626]|not provided [RCV001613092] Chr2:31387835 [GRCh38]
Chr2:31387835..31387836 [GRCh38]
Chr2:31610701 [GRCh37]
Chr2:31610701..31610702 [GRCh37]
Chr2:2p23.1
benign|likely benign
NM_000379.4(XDH):c.1751A>C (p.Asp584Ala) single nucleotide variant Hereditary xanthinuria type 1 [RCV000392476]|XDH-related disorder [RCV003957733]|Xanthinuria type II [RCV000881042] Chr2:31372333 [GRCh38]
Chr2:31595199 [GRCh37]
Chr2:2p23.1
benign|likely benign|uncertain significance
NM_000379.4(XDH):c.*881G>A single nucleotide variant Hereditary xanthinuria type 1 [RCV000392626] Chr2:31335077 [GRCh38]
Chr2:31557943 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.2851G>A (p.Gly951Arg) single nucleotide variant Hereditary xanthinuria type 1 [RCV000370785]|XDH-related disorder [RCV003932333]|Xanthinuria type II [RCV001485627] Chr2:31349804 [GRCh38]
Chr2:31572670 [GRCh37]
Chr2:2p23.1
likely benign|uncertain significance
NM_000379.4(XDH):c.2592C>T (p.His864=) single nucleotide variant Xanthinuria [RCV000331212]|Xanthinuria type II [RCV002057692] Chr2:31364197 [GRCh38]
Chr2:31587063 [GRCh37]
Chr2:2p23.1
benign|uncertain significance
NM_000379.4(XDH):c.*912A>T single nucleotide variant Hereditary xanthinuria type 1 [RCV000350375] Chr2:31335046 [GRCh38]
Chr2:31557912 [GRCh37]
Chr2:2p23.1
likely benign|uncertain significance
NM_000379.4(XDH):c.*1081A>G single nucleotide variant Hereditary xanthinuria type 1 [RCV000351518] Chr2:31334877 [GRCh38]
Chr2:31557743 [GRCh37]
Chr2:2p23.1
benign|likely benign
NM_000379.4(XDH):c.2198-7T>A single nucleotide variant Xanthinuria [RCV000372993] Chr2:31367001 [GRCh38]
Chr2:31589867 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.2268C>T (p.Gly756=) single nucleotide variant Hereditary xanthinuria type 1 [RCV000263085] Chr2:31366924 [GRCh38]
Chr2:31589790 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.1901G>T (p.Cys634Phe) single nucleotide variant Hereditary xanthinuria type 1 [RCV000345917] Chr2:31370434 [GRCh38]
Chr2:31593300 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.*1407C>T single nucleotide variant Hereditary xanthinuria type 1 [RCV000384337] Chr2:31334551 [GRCh38]
Chr2:31557417 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.*829G>A single nucleotide variant Hereditary xanthinuria type 1 [RCV000354000] Chr2:31335129 [GRCh38]
Chr2:31557995 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.*1094A>C single nucleotide variant Xanthinuria [RCV000287629] Chr2:31334864 [GRCh38]
Chr2:31557730 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.*823A>G single nucleotide variant Hereditary xanthinuria type 1 [RCV000392621] Chr2:31335135 [GRCh38]
Chr2:31558001 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.*1491A>G single nucleotide variant Hereditary xanthinuria type 1 [RCV000376332] Chr2:31334467 [GRCh38]
Chr2:31557333 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.*1452C>T single nucleotide variant Hereditary xanthinuria type 1 [RCV000327499] Chr2:31334506 [GRCh38]
Chr2:31557372 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.3108del (p.Thr1037fs) deletion not provided [RCV000722707] Chr2:31348307 [GRCh38]
Chr2:31571173 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.446G>A (p.Arg149His) single nucleotide variant Hereditary xanthinuria type 1 [RCV001138410]|Xanthinuria type II [RCV001219912] Chr2:31397717 [GRCh38]
Chr2:31620583 [GRCh37]
Chr2:2p23.1
uncertain significance
GRCh37/hg19 2p23.1(chr2:31585435-32092257)x1 copy number loss not provided [RCV000752884] Chr2:31585435..32092257 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.3898C>G (p.Pro1300Ala) single nucleotide variant not provided [RCV000723106] Chr2:31337694 [GRCh38]
Chr2:31560560 [GRCh37]
Chr2:2p23.1
uncertain significance
GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3 copy number gain See cases [RCV000454271] Chr2:27861707..60790985 [GRCh37]
Chr2:2p23.3-16.1
pathogenic
GRCh37/hg19 2p23.2-21(chr2:28069882-43543420)x3 copy number gain See cases [RCV000447397] Chr2:28069882..43543420 [GRCh37]
Chr2:2p23.2-21
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p23.1(chr2:31435578-31661595)x1 copy number loss See cases [RCV000510664] Chr2:31435578..31661595 [GRCh37]
Chr2:2p23.1
likely benign
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_000379.4(XDH):c.1820G>A (p.Arg607Gln) single nucleotide variant Hereditary xanthinuria type 1 [RCV001142628]|Xanthinuria type II [RCV000644555]|not provided [RCV003432684] Chr2:31372264 [GRCh38]
Chr2:31595130 [GRCh37]
Chr2:2p23.1
likely benign|uncertain significance
t(2;2)(p23;p21)(hg19 chr2:g.42552694::ochr2:g.29446394) inversion Small cell lung carcinoma [RCV000576833] Chr2:29446394..42552694 [GRCh37]
Chr2:2p23.2-21
pathogenic
NM_000379.4(XDH):c.1493C>T (p.Pro498Leu) single nucleotide variant Inborn genetic diseases [RCV003300773] Chr2:31375489 [GRCh38]
Chr2:31598355 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.3557G>T (p.Ser1186Ile) single nucleotide variant Inborn genetic diseases [RCV003285599] Chr2:31341357 [GRCh38]
Chr2:31564223 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.3440C>G (p.Ser1147Ter) single nucleotide variant Hereditary xanthinuria type 1 [RCV000609125] Chr2:31342262 [GRCh38]
Chr2:31565128 [GRCh37]
Chr2:2p23.1
likely pathogenic
NM_000379.4(XDH):c.1686+1G>C single nucleotide variant Hereditary xanthinuria type 1 [RCV000616942]|XDH-related disorder [RCV004730996]|Xanthinuria type II [RCV000685712]|not provided [RCV003156264] Chr2:31373872 [GRCh38]
Chr2:31596738 [GRCh37]
Chr2:2p23.1
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000379.4(XDH):c.361G>A (p.Val121Ile) single nucleotide variant Xanthinuria type II [RCV000698982] Chr2:31398645 [GRCh38]
Chr2:31621511 [GRCh37]
Chr2:2p23.1
uncertain significance
GRCh37/hg19 2p23.2-22.3(chr2:29240004-32380876)x1 copy number loss not provided [RCV000682149] Chr2:29240004..32380876 [GRCh37]
Chr2:2p23.2-22.3
pathogenic
NM_000379.4(XDH):c.3488T>C (p.Val1163Ala) single nucleotide variant Hereditary xanthinuria type 1 [RCV001137655]|Xanthinuria type II [RCV000699585] Chr2:31342214 [GRCh38]
Chr2:31565080 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.1602+1G>A single nucleotide variant Hereditary xanthinuria type 1 [RCV002485596]|Xanthinuria type II [RCV000686047] Chr2:31375379 [GRCh38]
Chr2:31598245 [GRCh37]
Chr2:2p23.1
likely pathogenic
NM_000379.4(XDH):c.3736C>T (p.Arg1246Cys) single nucleotide variant Hereditary xanthinuria type 1 [RCV002493189]|Xanthinuria type II [RCV000693996]|not provided [RCV004692130] Chr2:31339527 [GRCh38]
Chr2:31562393 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.3507del (p.Gly1170fs) deletion Xanthinuria type II [RCV000691786] Chr2:31342195 [GRCh38]
Chr2:31565061 [GRCh37]
Chr2:2p23.1
pathogenic
NM_000379.4(XDH):c.1885G>T (p.Val629Phe) single nucleotide variant Hereditary xanthinuria type 1 [RCV001140769]|Xanthinuria type II [RCV000692180] Chr2:31370450 [GRCh38]
Chr2:31593316 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.2274del (p.Glu760fs) deletion Hereditary xanthinuria type 1 [RCV002507228]|Xanthinuria type II [RCV000702611] Chr2:31366918 [GRCh38]
Chr2:31589784 [GRCh37]
Chr2:2p23.1
pathogenic
NM_000379.4(XDH):c.2437G>C (p.Val813Leu) single nucleotide variant Hereditary xanthinuria type 1 [RCV001137766]|Inborn genetic diseases [RCV003243262]|Xanthinuria type II [RCV000696124] Chr2:31365995 [GRCh38]
Chr2:31588861 [GRCh37]
Chr2:2p23.1
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p23.1(chr2:31605411-31811268)x3 copy number gain not provided [RCV000752885] Chr2:31605411..31811268 [GRCh37]
Chr2:2p23.1
benign
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p24.1-16.3(chr2:22665048-52850368)x3 copy number gain not provided [RCV000752875] Chr2:22665048..52850368 [GRCh37]
Chr2:2p24.1-16.3
pathogenic
NM_000379.4(XDH):c.3404+307G>T single nucleotide variant not provided [RCV001645756] Chr2:31344377 [GRCh38]
Chr2:31567243 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.101-84G>T single nucleotide variant not provided [RCV001680310] Chr2:31403228 [GRCh38]
Chr2:31626094 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.192G>T (p.Lys64Asn) single nucleotide variant Hereditary xanthinuria type 1 [RCV002502880]|not provided [RCV000940626] Chr2:31403053 [GRCh38]
Chr2:31625919 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.2824-35G>A single nucleotide variant not provided [RCV001681332] Chr2:31349866 [GRCh38]
Chr2:31572732 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.1602+306T>C single nucleotide variant not provided [RCV001647700] Chr2:31375074 [GRCh38]
Chr2:31597940 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.1669G>A (p.Asp557Asn) single nucleotide variant Xanthinuria type II [RCV000894689] Chr2:31373890 [GRCh38]
Chr2:31596756 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.564+64C>T single nucleotide variant not provided [RCV001535353] Chr2:31388163 [GRCh38]
Chr2:31611029 [GRCh37]
Chr2:2p23.1
benign
GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3 copy number gain See cases [RCV001581099] Chr2:24601818..43466284 [GRCh37]
Chr2:2p23.3-21
pathogenic
NM_000379.4(XDH):c.1427+70C>G single nucleotide variant not provided [RCV001708433] Chr2:31376983 [GRCh38]
Chr2:31599849 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.496-52C>T single nucleotide variant not provided [RCV001612029] Chr2:31388347 [GRCh38]
Chr2:31611213 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.1857-160T>C single nucleotide variant not provided [RCV001641210] Chr2:31370638 [GRCh38]
Chr2:31593504 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.3147+70A>G single nucleotide variant not provided [RCV001552235] Chr2:31348198 [GRCh38]
Chr2:31571064 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.2460C>T (p.Thr820=) single nucleotide variant Hereditary xanthinuria type 1 [RCV002502801]|XDH-related disorder [RCV003933112]|Xanthinuria type II [RCV002542171]|not specified [RCV004586983] Chr2:31365541 [GRCh38]
Chr2:31588407 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.1037C>T (p.Ala346Val) single nucleotide variant Hereditary xanthinuria type 1 [RCV001142739]|Inborn genetic diseases [RCV002549615]|XDH-related disorder [RCV003943294]|Xanthinuria type II [RCV000983957] Chr2:31383002 [GRCh38]
Chr2:31605868 [GRCh37]
Chr2:2p23.1
likely benign|uncertain significance
NM_000379.4(XDH):c.3536T>C (p.Ile1179Thr) single nucleotide variant Hereditary xanthinuria type 1 [RCV001137653]|XDH-related disorder [RCV003906069]|Xanthinuria type II [RCV000973780]|not provided [RCV001577252]|not specified [RCV004702544] Chr2:31341378 [GRCh38]
Chr2:31341378..31341379 [GRCh38]
Chr2:31564244 [GRCh37]
Chr2:31564244..31564245 [GRCh37]
Chr2:2p23.1
likely benign|uncertain significance
NM_000379.4(XDH):c.1868C>T (p.Thr623Ile) single nucleotide variant Hereditary xanthinuria type 1 [RCV001142626]|Xanthinuria type II [RCV000973814]|not provided [RCV001702577] Chr2:31370467 [GRCh38]
Chr2:31593333 [GRCh37]
Chr2:2p23.1
likely benign|uncertain significance
NM_000379.4(XDH):c.3795C>T (p.Leu1265=) single nucleotide variant not provided [RCV000903336] Chr2:31337797 [GRCh38]
Chr2:31560663 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.793+9C>T single nucleotide variant not provided [RCV000903337] Chr2:31386405 [GRCh38]
Chr2:31609271 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.3789G>A (p.Pro1263=) single nucleotide variant Hereditary xanthinuria type 1 [RCV002489272]|XDH-related disorder [RCV003978126]|Xanthinuria type II [RCV002545965] Chr2:31337803 [GRCh38]
Chr2:31560669 [GRCh37]
Chr2:2p23.1
benign|likely benign
NM_000379.4(XDH):c.1885G>A (p.Val629Ile) single nucleotide variant Hereditary xanthinuria type 1 [RCV001140770]|Xanthinuria type II [RCV000892026]|not provided [RCV003424449] Chr2:31370450 [GRCh38]
Chr2:31593316 [GRCh37]
Chr2:2p23.1
benign|likely benign
NM_000379.4(XDH):c.1774G>A (p.Val592Met) single nucleotide variant Xanthinuria type II [RCV000967649] Chr2:31372310 [GRCh38]
Chr2:31595176 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.1476G>A (p.Glu492=) single nucleotide variant Xanthinuria type II [RCV001497562]|not specified [RCV004586984] Chr2:31375506 [GRCh38]
Chr2:31598372 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.2729C>T (p.Thr910Met) single nucleotide variant Xanthinuria type II [RCV000964856]|not provided [RCV004711465] Chr2:31350126 [GRCh38]
Chr2:31572992 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.3405-9C>T single nucleotide variant not provided [RCV000904704] Chr2:31342306 [GRCh38]
Chr2:31565172 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.2013G>A (p.Val671=) single nucleotide variant Hereditary xanthinuria type 1 [RCV001140767]|XDH-related disorder [RCV003906066]|Xanthinuria type II [RCV000973668] Chr2:31368628 [GRCh38]
Chr2:31591494 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.534T>C (p.Asn178=) single nucleotide variant Xanthinuria type II [RCV002549588] Chr2:31388257 [GRCh38]
Chr2:31611123 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.101-7C>T single nucleotide variant Hereditary xanthinuria type 1 [RCV002501367]|Xanthinuria type II [RCV000879715] Chr2:31403151 [GRCh38]
Chr2:31626017 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.1896T>G (p.Phe632Leu) single nucleotide variant Hereditary xanthinuria type 1 [RCV001140768]|Inborn genetic diseases [RCV002553807]|Xanthinuria type II [RCV001056089] Chr2:31370439 [GRCh38]
Chr2:31593305 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.3864T>C (p.Gly1288=) single nucleotide variant Hereditary xanthinuria type 1 [RCV001142399]|XDH-related disorder [RCV004756143]|Xanthinuria type II [RCV000974712] Chr2:31337728 [GRCh38]
Chr2:31560594 [GRCh37]
Chr2:2p23.1
likely benign|uncertain significance
NM_000379.4(XDH):c.2676C>G (p.Ile892Met) single nucleotide variant Xanthinuria type II [RCV000902706] Chr2:31350179 [GRCh38]
Chr2:31573045 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.1663C>T (p.Pro555Ser) single nucleotide variant Hereditary xanthinuria type 1 [RCV001137879]|Xanthinuria type II [RCV000970821] Chr2:31373896 [GRCh38]
Chr2:31596762 [GRCh37]
Chr2:2p23.1
benign|uncertain significance
NM_000379.4(XDH):c.2037A>C (p.Thr679=) single nucleotide variant Hereditary xanthinuria type 1 [RCV001140766]|Xanthinuria type II [RCV000888642] Chr2:31368604 [GRCh38]
Chr2:31591470 [GRCh37]
Chr2:2p23.1
benign|uncertain significance
NM_000379.4(XDH):c.867G>A (p.Ser289=) single nucleotide variant Hereditary xanthinuria type 1 [RCV002505349]|Xanthinuria type II [RCV003591798] Chr2:31383774 [GRCh38]
Chr2:31606640 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.1042G>A (p.Val348Ile) single nucleotide variant Hereditary xanthinuria type 1 [RCV001140886]|Xanthinuria type II [RCV002065960] Chr2:31381723 [GRCh38]
Chr2:31604589 [GRCh37]
Chr2:2p23.1
likely benign|uncertain significance
NM_000379.4(XDH):c.2544+10G>A single nucleotide variant Xanthinuria type II [RCV000931951] Chr2:31365447 [GRCh38]
Chr2:31588313 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.3018T>C (p.Phe1006=) single nucleotide variant Hereditary xanthinuria type 1 [RCV001142534]|XDH-related disorder [RCV003955856]|Xanthinuria type II [RCV000882905] Chr2:31348932 [GRCh38]
Chr2:31571798 [GRCh37]
Chr2:2p23.1
likely benign|uncertain significance
NM_000379.4(XDH):c.1617G>T (p.Leu539=) single nucleotide variant Hereditary xanthinuria type 1 [RCV002495372]|Xanthinuria type II [RCV000887885] Chr2:31373942 [GRCh38]
Chr2:31596808 [GRCh37]
Chr2:2p23.1
benign|likely benign
NM_000379.4(XDH):c.385C>T (p.Arg129Trp) single nucleotide variant Xanthinuria type II [RCV000817440] Chr2:31398621 [GRCh38]
Chr2:31621487 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.3375A>G (p.Thr1125=) single nucleotide variant Xanthinuria type II [RCV000960511] Chr2:31344713 [GRCh38]
Chr2:31567579 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.1726C>T (p.Arg576Trp) single nucleotide variant Hereditary xanthinuria type 1 [RCV001137878]|XDH-related disorder [RCV003926125]|Xanthinuria type II [RCV000960512] Chr2:31372358 [GRCh38]
Chr2:31595224 [GRCh37]
Chr2:2p23.1
likely benign|uncertain significance
NM_000379.4(XDH):c.2252T>C (p.Ile751Thr) single nucleotide variant Hereditary xanthinuria type 1 [RCV001140012]|Xanthinuria type II [RCV000793759] Chr2:31366940 [GRCh38]
Chr2:31589806 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.140dup (p.Cys48fs) duplication Hereditary xanthinuria type 1 [RCV001535951]|Xanthinuria type II [RCV000794280] Chr2:31403104..31403105 [GRCh38]
Chr2:31625970..31625971 [GRCh37]
Chr2:2p23.1
pathogenic
NM_000379.4(XDH):c.2362A>T (p.Ile788Phe) single nucleotide variant Hereditary xanthinuria type 1 [RCV001137768]|XDH-related disorder [RCV003413614]|Xanthinuria type II [RCV000805413] Chr2:31366070 [GRCh38]
Chr2:31588936 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.2603T>G (p.Val868Gly) single nucleotide variant Xanthinuria type II [RCV000803431] Chr2:31364186 [GRCh38]
Chr2:31587052 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.463C>A (p.Pro155Thr) single nucleotide variant Hereditary xanthinuria type 1 [RCV002477844]|Xanthinuria type II [RCV000804114] Chr2:31397700 [GRCh38]
Chr2:31620566 [GRCh37]
Chr2:2p23.1
uncertain significance
GRCh37/hg19 2p23.1(chr2:31434360-31658788)x1 copy number loss not provided [RCV000850033] Chr2:31434360..31658788 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.340G>A (p.Gly114Arg) single nucleotide variant Xanthinuria type II [RCV000807673] Chr2:31398666 [GRCh38]
Chr2:31621532 [GRCh37]
Chr2:2p23.1
uncertain significance
GRCh37/hg19 2p23.1(chr2:31281703-31789508)x1 copy number loss not provided [RCV000848596] Chr2:31281703..31789508 [GRCh37]
Chr2:2p23.1
uncertain significance
GRCh37/hg19 2p23.2-22.2(chr2:29940473-36813297)x1 copy number loss not provided [RCV000848001] Chr2:29940473..36813297 [GRCh37]
Chr2:2p23.2-22.2
pathogenic
GRCh37/hg19 2p23.1(chr2:31434360-31658788)x1 copy number loss not provided [RCV000846167] Chr2:31434360..31658788 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.3520-1G>C single nucleotide variant Hereditary xanthinuria type 1 [RCV000786985] Chr2:31341395 [GRCh38]
Chr2:31564261 [GRCh37]
Chr2:2p23.1
pathogenic
NM_000379.4(XDH):c.2969+66dup duplication Hereditary xanthinuria type 1 [RCV002245819]|Xanthinuria type II [RCV000986612]|not provided [RCV001619866] Chr2:31349616..31349617 [GRCh38]
Chr2:31572482..31572483 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.*694T>C single nucleotide variant Hereditary xanthinuria type 1 [RCV001137550] Chr2:31335264 [GRCh38]
Chr2:31558130 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.*628A>G single nucleotide variant Hereditary xanthinuria type 1 [RCV001137554] Chr2:31335330 [GRCh38]
Chr2:31558196 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.2452T>C (p.Tyr818His) single nucleotide variant Hereditary xanthinuria type 1 [RCV001137764]|Inborn genetic diseases [RCV002556935]|Xanthinuria type II [RCV001873541] Chr2:31365980 [GRCh38]
Chr2:31588846 [GRCh37]
Chr2:2p23.1
likely benign|uncertain significance
NM_000379.4(XDH):c.2413C>T (p.Arg805Trp) single nucleotide variant Hereditary xanthinuria type 1 [RCV001137767]|Inborn genetic diseases [RCV002556936]|Xanthinuria type II [RCV001856759] Chr2:31366019 [GRCh38]
Chr2:31588885 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.1523G>A (p.Arg508Gln) single nucleotide variant Hereditary xanthinuria type 1 [RCV001137882] Chr2:31375459 [GRCh38]
Chr2:31598325 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.*570G>C single nucleotide variant Hereditary xanthinuria type 1 [RCV001137555] Chr2:31335388 [GRCh38]
Chr2:31558254 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.670C>A (p.Arg224=) single nucleotide variant Hereditary xanthinuria type 1 [RCV001137989] Chr2:31386537 [GRCh38]
Chr2:31609403 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.2554A>T (p.Met852Leu) single nucleotide variant Hereditary xanthinuria type 1 [RCV001137763] Chr2:31364235 [GRCh38]
Chr2:31587101 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.635T>C (p.Phe212Ser) single nucleotide variant Xanthinuria type II [RCV000819558] Chr2:31387827 [GRCh38]
Chr2:31610693 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.3260A>G (p.Asn1087Ser) single nucleotide variant Hereditary xanthinuria type 1 [RCV002487664]|Xanthinuria type II [RCV000795544] Chr2:31347538 [GRCh38]
Chr2:31570404 [GRCh37]
Chr2:2p23.1
uncertain significance
NC_000002.11:g.(?_31558804)_(32481864_?)dup duplication Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001031927] Chr2:31558804..32481864 [GRCh37]
Chr2:2p23.1-22.3
uncertain significance
NM_000379.4(XDH):c.495+15C>T single nucleotide variant Hereditary xanthinuria type 1 [RCV001138408]|Xanthinuria type II [RCV001517873] Chr2:31397653 [GRCh38]
Chr2:31620519 [GRCh37]
Chr2:2p23.1
benign|uncertain significance
NM_000379.4(XDH):c.3562A>C (p.Asn1188His) single nucleotide variant Hereditary xanthinuria type 1 [RCV001137652]|Xanthinuria type II [RCV003117780] Chr2:31341352 [GRCh38]
Chr2:31564218 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.2441C>T (p.Ala814Val) single nucleotide variant Hereditary xanthinuria type 1 [RCV001137765]|Xanthinuria type II [RCV001326537] Chr2:31365991 [GRCh38]
Chr2:31588857 [GRCh37]
Chr2:2p23.1
uncertain significance
GRCh37/hg19 2p23.1(chr2:31601561-31845670)x3 copy number gain not provided [RCV000848896] Chr2:31601561..31845670 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.2823+3A>G single nucleotide variant Xanthinuria type II [RCV001239540] Chr2:31350029 [GRCh38]
Chr2:31572895 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.1038G>A (p.Ala346=) single nucleotide variant Hereditary xanthinuria type 1 [RCV002491718]|Xanthinuria type II [RCV001226944] Chr2:31383001 [GRCh38]
Chr2:31605867 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.3887G>A (p.Arg1296Gln) single nucleotide variant Hereditary xanthinuria type 1 [RCV002499391]|Inborn genetic diseases [RCV002563915]|Xanthinuria type II [RCV001238381] Chr2:31337705 [GRCh38]
Chr2:31560571 [GRCh37]
Chr2:2p23.1
likely benign|uncertain significance
NM_000379.4(XDH):c.2102A>T (p.Asp701Val) single nucleotide variant Hereditary xanthinuria type 1 [RCV002484211]|Inborn genetic diseases [RCV002562580]|Xanthinuria type II [RCV001223276] Chr2:31368056 [GRCh38]
Chr2:31590922 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.1210C>A (p.Leu404Met) single nucleotide variant Hereditary xanthinuria type 1 [RCV002504250]|Xanthinuria type II [RCV001211206] Chr2:31379899 [GRCh38]
Chr2:31602765 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.2804G>C (p.Cys935Ser) single nucleotide variant Xanthinuria type II [RCV001242231] Chr2:31350051 [GRCh38]
Chr2:31572917 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.829A>G (p.Met277Val) single nucleotide variant Inborn genetic diseases [RCV003249102] Chr2:31383812 [GRCh38]
Chr2:31606678 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.3692C>T (p.Pro1231Leu) single nucleotide variant Inborn genetic diseases [RCV002561802]|Xanthinuria type II [RCV001213073] Chr2:31339571 [GRCh38]
Chr2:31562437 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.*1417A>G single nucleotide variant Hereditary xanthinuria type 1 [RCV001139668] Chr2:31334541 [GRCh38]
Chr2:31557407 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.*1338G>T single nucleotide variant Hereditary xanthinuria type 1 [RCV001139669] Chr2:31334620 [GRCh38]
Chr2:31557486 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.*371C>T single nucleotide variant Hereditary xanthinuria type 1 [RCV001139779] Chr2:31335587 [GRCh38]
Chr2:31558453 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.787G>A (p.Glu263Lys) single nucleotide variant Hereditary xanthinuria type 1 [RCV001142743] Chr2:31386420 [GRCh38]
Chr2:31609286 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.*913T>A single nucleotide variant Hereditary xanthinuria type 1 [RCV001140438] Chr2:31335045 [GRCh38]
Chr2:31557911 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.2074G>A (p.Glu692Lys) single nucleotide variant Xanthinuria type II [RCV001201772] Chr2:31368567 [GRCh38]
Chr2:31591433 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.1132+11T>C single nucleotide variant Hereditary xanthinuria type 1 [RCV001140885]|Xanthinuria type II [RCV002070691] Chr2:31381622 [GRCh38]
Chr2:31604488 [GRCh37]
Chr2:2p23.1
likely benign|uncertain significance
NM_000379.4(XDH):c.182T>C (p.Leu61Pro) single nucleotide variant Hereditary xanthinuria type 1 [RCV001140986]|Xanthinuria type II [RCV001858923] Chr2:31403063 [GRCh38]
Chr2:31625929 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.136G>C (p.Gly46Arg) single nucleotide variant Hereditary xanthinuria type 1 [RCV001140987] Chr2:31403109 [GRCh38]
Chr2:31625975 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.*693G>A single nucleotide variant Hereditary xanthinuria type 1 [RCV001137551] Chr2:31335265 [GRCh38]
Chr2:31558131 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.3527G>A (p.Arg1176His) single nucleotide variant Hereditary xanthinuria type 1 [RCV001137654] Chr2:31341387 [GRCh38]
Chr2:31564253 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.785C>T (p.Thr262Met) single nucleotide variant Hereditary xanthinuria type 1 [RCV001137987] Chr2:31386422 [GRCh38]
Chr2:31609288 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.3210C>G (p.Asn1070Lys) single nucleotide variant Hereditary xanthinuria type 1 [RCV002504364]|Xanthinuria type II [RCV001247451] Chr2:31347588 [GRCh38]
Chr2:31570454 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.3148G>T (p.Val1050Leu) single nucleotide variant Inborn genetic diseases [RCV003291829] Chr2:31347650 [GRCh38]
Chr2:31570516 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.1981-235A>G single nucleotide variant not provided [RCV001575436] Chr2:31368895 [GRCh38]
Chr2:31591761 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.794-12G>A single nucleotide variant Xanthinuria type II [RCV003106832] Chr2:31383859 [GRCh38]
Chr2:31606725 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.42+238C>T single nucleotide variant not provided [RCV001687983] Chr2:31414387 [GRCh38]
Chr2:31637253 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.3148-173C>T single nucleotide variant not provided [RCV001638600] Chr2:31347823 [GRCh38]
Chr2:31570689 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.2456+178G>A single nucleotide variant not provided [RCV001635654] Chr2:31365798 [GRCh38]
Chr2:31588664 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.2323-226A>G single nucleotide variant not provided [RCV001583611] Chr2:31366335 [GRCh38]
Chr2:31589201 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.1602+124T>C single nucleotide variant not provided [RCV001560662] Chr2:31375256 [GRCh38]
Chr2:31598122 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.2632-257T>C single nucleotide variant not provided [RCV001651509] Chr2:31350480 [GRCh38]
Chr2:31573346 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.886+260C>T single nucleotide variant not provided [RCV001596493] Chr2:31383495 [GRCh38]
Chr2:31606361 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.1687-311T>C single nucleotide variant not provided [RCV001576417] Chr2:31372708 [GRCh38]
Chr2:31595574 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.3405-276T>A single nucleotide variant not provided [RCV001659174] Chr2:31342573 [GRCh38]
Chr2:31565439 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.2457-167T>C single nucleotide variant not provided [RCV001659207] Chr2:31365711 [GRCh38]
Chr2:31588577 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.1427+266_1427+274dup duplication not provided [RCV001681267] Chr2:31376778..31376779 [GRCh38]
Chr2:31599644..31599645 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.1980+96A>G single nucleotide variant not provided [RCV001672065] Chr2:31370259 [GRCh38]
Chr2:31593125 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.306+276A>G single nucleotide variant not provided [RCV001657414] Chr2:31400944 [GRCh38]
Chr2:31623810 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.2197+282T>C single nucleotide variant not provided [RCV001619638] Chr2:31367679 [GRCh38]
Chr2:31590545 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.496-206A>G single nucleotide variant not provided [RCV001696347] Chr2:31388501 [GRCh38]
Chr2:31611367 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.1603-210G>T single nucleotide variant not provided [RCV001649221] Chr2:31374166 [GRCh38]
Chr2:31597032 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.2545-32T>G single nucleotide variant not provided [RCV001584662] Chr2:31364276 [GRCh38]
Chr2:31587142 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.2545-125C>T single nucleotide variant not provided [RCV001652383] Chr2:31364369 [GRCh38]
Chr2:31587235 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.2322+322A>G single nucleotide variant not provided [RCV001680248] Chr2:31366548 [GRCh38]
Chr2:31589414 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.1980+266A>G single nucleotide variant not provided [RCV001616629] Chr2:31370089 [GRCh38]
Chr2:31592955 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.1039-180T>C single nucleotide variant not provided [RCV001590489] Chr2:31381906 [GRCh38]
Chr2:31604772 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.2197+42G>C single nucleotide variant not provided [RCV001640023] Chr2:31367919 [GRCh38]
Chr2:31590785 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.2969+154T>C single nucleotide variant not provided [RCV001656719] Chr2:31349532 [GRCh38]
Chr2:31572398 [GRCh37]
Chr2:2p23.1
benign
GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3 copy number gain not provided [RCV001532444] Chr2:24881528..43460021 [GRCh37]
Chr2:2p23.3-21
likely pathogenic
NM_000379.4(XDH):c.100+27C>T single nucleotide variant not provided [RCV001680603] Chr2:31405880 [GRCh38]
Chr2:31628746 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.3351+261G>C single nucleotide variant not provided [RCV001614538] Chr2:31346508 [GRCh38]
Chr2:31569374 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.652-27= single nucleotide variant not provided [RCV001657031] Chr2:31386582 [GRCh38]
Chr2:31609448 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.3641A>G (p.Tyr1214Cys) single nucleotide variant Inborn genetic diseases [RCV003275723] Chr2:31339622 [GRCh38]
Chr2:31562488 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.1929G>A (p.Gly643=) single nucleotide variant Xanthinuria type II [RCV001410509] Chr2:31370406 [GRCh38]
Chr2:31593272 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.2493T>C (p.Asp831=) single nucleotide variant Xanthinuria type II [RCV000944480] Chr2:31365508 [GRCh38]
Chr2:31588374 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.1119A>C (p.Thr373=) single nucleotide variant Xanthinuria type II [RCV001503266] Chr2:31381646 [GRCh38]
Chr2:31604512 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.882C>T (p.Pro294=) single nucleotide variant Hereditary xanthinuria type 1 [RCV001142740]|XDH-related disorder [RCV003936061]|Xanthinuria type II [RCV000968297]|not provided [RCV001729769] Chr2:31383759 [GRCh38]
Chr2:31606625 [GRCh37]
Chr2:2p23.1
benign|likely benign|uncertain significance
NM_000379.4(XDH):c.1041C>T (p.Ser347=) single nucleotide variant XDH-related disorder [RCV003925785]|not provided [RCV000926257] Chr2:31381724 [GRCh38]
Chr2:31604590 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.702G>A (p.Val234=) single nucleotide variant not provided [RCV000908793] Chr2:31386505 [GRCh38]
Chr2:31609371 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.883G>A (p.Asp295Asn) single nucleotide variant Hereditary xanthinuria type 1 [RCV002501437]|Inborn genetic diseases [RCV002540068]|Xanthinuria type II [RCV003591794] Chr2:31383758 [GRCh38]
Chr2:31606624 [GRCh37]
Chr2:2p23.1
likely benign|uncertain significance
NM_000379.4(XDH):c.671G>A (p.Arg224Gln) single nucleotide variant Xanthinuria type II [RCV000981638] Chr2:31386536 [GRCh38]
Chr2:31609402 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.822G>A (p.Leu274=) single nucleotide variant Hereditary xanthinuria type 1 [RCV001142742]|XDH-related disorder [RCV004756071]|Xanthinuria type II [RCV000887797]|not provided [RCV001796808]|not specified [RCV001796306] Chr2:31383819 [GRCh38]
Chr2:31606685 [GRCh37]
Chr2:2p23.1
benign|likely benign|uncertain significance
NM_000379.4(XDH):c.397G>A (p.Glu133Lys) single nucleotide variant Hereditary xanthinuria type 1 [RCV001140983]|Xanthinuria type II [RCV000887839]|not provided [RCV004711372] Chr2:31398609 [GRCh38]
Chr2:31621475 [GRCh37]
Chr2:2p23.1
benign|likely benign
NM_000379.4(XDH):c.*105C>G single nucleotide variant Hereditary xanthinuria type 1 [RCV001139784] Chr2:31335853 [GRCh38]
Chr2:31558719 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.2323-10T>G single nucleotide variant Hereditary xanthinuria type 1 [RCV001140010] Chr2:31366119 [GRCh38]
Chr2:31588985 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.1495G>A (p.Asp499Asn) single nucleotide variant Hereditary xanthinuria type 1 [RCV001140123]|Inborn genetic diseases [RCV003163309] Chr2:31375487 [GRCh38]
Chr2:31598353 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.1329G>A (p.Lys443=) single nucleotide variant Hereditary xanthinuria type 1 [RCV001140126]|Xanthinuria type II [RCV001522564]|not provided [RCV001593289] Chr2:31377151 [GRCh38]
Chr2:31600017 [GRCh37]
Chr2:2p23.1
benign|likely benign
NM_000379.4(XDH):c.3951+14C>G single nucleotide variant Hereditary xanthinuria type 1 [RCV001140551]|Xanthinuria type II [RCV002070681] Chr2:31337627 [GRCh38]
Chr2:31560493 [GRCh37]
Chr2:2p23.1
benign|likely benign
NM_000379.4(XDH):c.3919C>T (p.Arg1307Cys) single nucleotide variant Hereditary xanthinuria type 1 [RCV001140552] Chr2:31337673 [GRCh38]
Chr2:31560539 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.3871G>A (p.Val1291Met) single nucleotide variant Hereditary xanthinuria type 1 [RCV002482084]|Inborn genetic diseases [RCV004030542]|Xanthinuria type II [RCV001064546] Chr2:31337721 [GRCh38]
Chr2:31560587 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.495+13C>G single nucleotide variant Hereditary xanthinuria type 1 [RCV001138409] Chr2:31397655 [GRCh38]
Chr2:31620521 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.3581G>T (p.Gly1194Val) single nucleotide variant Xanthinuria type II [RCV001224142] Chr2:31341333 [GRCh38]
Chr2:31564199 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.3276+6G>A single nucleotide variant Xanthinuria type II [RCV001241590] Chr2:31347516 [GRCh38]
Chr2:31570382 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.33T>G (p.Asn11Lys) single nucleotide variant Hereditary xanthinuria type 1 [RCV002491643]|Inborn genetic diseases [RCV002561734]|Xanthinuria type II [RCV001210290] Chr2:31414634 [GRCh38]
Chr2:31637500 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.762C>A (p.Asp254Glu) single nucleotide variant Xanthinuria type II [RCV001415347] Chr2:31386445 [GRCh38]
Chr2:31609311 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.1785C>T (p.Asp595=) single nucleotide variant Hereditary xanthinuria type 1 [RCV002488041]|Xanthinuria type II [RCV002547261] Chr2:31372299 [GRCh38]
Chr2:31595165 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.3869A>G (p.Asn1290Ser) single nucleotide variant Inborn genetic diseases [RCV002836697] Chr2:31337723 [GRCh38]
Chr2:31560589 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.2198-238T>C single nucleotide variant not provided [RCV001557196] Chr2:31367232 [GRCh38]
Chr2:31590098 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.2632-301C>A single nucleotide variant not provided [RCV001562829] Chr2:31350524 [GRCh38]
Chr2:31573390 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.101-35C>G single nucleotide variant not provided [RCV001677282] Chr2:31403179 [GRCh38]
Chr2:31626045 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.1243-132G>A single nucleotide variant not provided [RCV001551671] Chr2:31377369 [GRCh38]
Chr2:31600235 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.2544+103A>G single nucleotide variant not provided [RCV001688741] Chr2:31365354 [GRCh38]
Chr2:31588220 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.1687-161A>G single nucleotide variant not provided [RCV001620192] Chr2:31372558 [GRCh38]
Chr2:31595424 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.2698C>T (p.Arg900Trp) single nucleotide variant not provided [RCV003235890] Chr2:31350157 [GRCh38]
Chr2:31573023 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.651+31G>A single nucleotide variant not provided [RCV001556291] Chr2:31387780 [GRCh38]
Chr2:31610646 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.2322+82A>G single nucleotide variant not provided [RCV001670103] Chr2:31366788 [GRCh38]
Chr2:31589654 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.1603-133C>T single nucleotide variant not provided [RCV001619408] Chr2:31374089 [GRCh38]
Chr2:31596955 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.2198-2A>C single nucleotide variant Hereditary xanthinuria type 1 [RCV001535866] Chr2:31366996 [GRCh38]
Chr2:31589862 [GRCh37]
Chr2:2p23.1
likely pathogenic
NM_000379.4(XDH):c.2197+130C>T single nucleotide variant not provided [RCV001659602] Chr2:31367831 [GRCh38]
Chr2:31590697 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.3404+252A>C single nucleotide variant not provided [RCV001674853] Chr2:31344432 [GRCh38]
Chr2:31567298 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.3352-30A>C single nucleotide variant not provided [RCV001621610] Chr2:31344766 [GRCh38]
Chr2:31567632 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.2545-32T>C single nucleotide variant not provided [RCV001621683] Chr2:31364276 [GRCh38]
Chr2:31587142 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.1686+220C>T single nucleotide variant not provided [RCV001638820] Chr2:31373653 [GRCh38]
Chr2:31596519 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.2970-38A>G single nucleotide variant not provided [RCV001677550] Chr2:31349018 [GRCh38]
Chr2:31571884 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.3147+107G>A single nucleotide variant not provided [RCV001639369] Chr2:31348161 [GRCh38]
Chr2:31571027 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.3148-110G>A single nucleotide variant not provided [RCV001652486] Chr2:31347760 [GRCh38]
Chr2:31570626 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.3276+273C>G single nucleotide variant not provided [RCV001714957] Chr2:31347249 [GRCh38]
Chr2:31570115 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.3351+164T>C single nucleotide variant not provided [RCV001676683] Chr2:31346605 [GRCh38]
Chr2:31569471 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.43-125G>C single nucleotide variant not provided [RCV001594680] Chr2:31406089 [GRCh38]
Chr2:31628955 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.2198-296T>C single nucleotide variant not provided [RCV001682359] Chr2:31367290 [GRCh38]
Chr2:31590156 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.564+39T>A single nucleotide variant not provided [RCV001658872] Chr2:31388188 [GRCh38]
Chr2:31611054 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.2631+163C>T single nucleotide variant not provided [RCV001698694] Chr2:31363995 [GRCh38]
Chr2:31586861 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.1980+139A>G single nucleotide variant not provided [RCV001598917] Chr2:31370216 [GRCh38]
Chr2:31593082 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.1243-43A>G single nucleotide variant Hereditary xanthinuria type 1 [RCV002243374]|not provided [RCV001649851] Chr2:31377280 [GRCh38]
Chr2:31600146 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.3775-268T>C single nucleotide variant not provided [RCV001677240] Chr2:31338085 [GRCh38]
Chr2:31560951 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.1039-252A>G single nucleotide variant not provided [RCV001658927] Chr2:31381978 [GRCh38]
Chr2:31604844 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.3712A>T (p.Ile1238Phe) single nucleotide variant Hereditary xanthinuria type 1 [RCV001142402]|Xanthinuria type II [RCV001206250] Chr2:31339551 [GRCh38]
Chr2:31562417 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.3677G>A (p.Ser1226Asn) single nucleotide variant Hereditary xanthinuria type 1 [RCV001142403] Chr2:31339586 [GRCh38]
Chr2:31562452 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.2828G>A (p.Arg943Gln) single nucleotide variant Hereditary xanthinuria type 1 [RCV001142535] Chr2:31349827 [GRCh38]
Chr2:31572693 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.2751G>A (p.Gly917=) single nucleotide variant Hereditary xanthinuria type 1 [RCV001142536]|Xanthinuria type II [RCV002070708] Chr2:31350104 [GRCh38]
Chr2:31572970 [GRCh37]
Chr2:2p23.1
likely benign|uncertain significance
NM_000379.4(XDH):c.1038+7C>T single nucleotide variant Hereditary xanthinuria type 1 [RCV001142738]|Xanthinuria type II [RCV002070710] Chr2:31382994 [GRCh38]
Chr2:31605860 [GRCh37]
Chr2:2p23.1
likely benign|uncertain significance
NM_000379.4(XDH):c.*731A>G single nucleotide variant Hereditary xanthinuria type 1 [RCV001142295] Chr2:31335227 [GRCh38]
Chr2:31558093 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.3774+15G>A single nucleotide variant Hereditary xanthinuria type 1 [RCV001142400]|Xanthinuria type II [RCV001419800] Chr2:31339474 [GRCh38]
Chr2:31562340 [GRCh37]
Chr2:2p23.1
likely benign|uncertain significance
NM_000379.4(XDH):c.3771G>A (p.Ser1257=) single nucleotide variant Hereditary xanthinuria type 1 [RCV001142401]|Xanthinuria type II [RCV001516311] Chr2:31339492 [GRCh38]
Chr2:31562358 [GRCh37]
Chr2:2p23.1
benign|likely benign
NM_000379.4(XDH):c.2728A>G (p.Thr910Ala) single nucleotide variant Hereditary xanthinuria type 1 [RCV001142537]|Xanthinuria type II [RCV002557032] Chr2:31350127 [GRCh38]
Chr2:31572993 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.859C>G (p.Leu287Val) single nucleotide variant Hereditary xanthinuria type 1 [RCV001142741]|Xanthinuria type II [RCV001361227]|not provided [RCV003405349] Chr2:31383782 [GRCh38]
Chr2:31606648 [GRCh37]
Chr2:2p23.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000379.4(XDH):c.*1601G>A single nucleotide variant Hereditary xanthinuria type 1 [RCV001137452] Chr2:31334357 [GRCh38]
Chr2:31557223 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.3662A>G (p.His1221Arg) single nucleotide variant Hereditary xanthinuria type 1 [RCV001137650] Chr2:31339601 [GRCh38]
Chr2:31562467 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.3614G>C (p.Gly1205Ala) single nucleotide variant Hereditary xanthinuria type 1 [RCV001137651] Chr2:31339649 [GRCh38]
Chr2:31562515 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.*308C>A single nucleotide variant Hereditary xanthinuria type 1 [RCV001139780]|not provided [RCV004694868] Chr2:31335650 [GRCh38]
Chr2:31558516 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.3277-14G>T single nucleotide variant Hereditary xanthinuria type 1 [RCV001139877] Chr2:31346857 [GRCh38]
Chr2:31569723 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.636T>C (p.Phe212=) single nucleotide variant Hereditary xanthinuria type 1 [RCV001137991]|XDH-related disorder [RCV003938491]|Xanthinuria type II [RCV001512907]|not provided [RCV004711525] Chr2:31387826 [GRCh38]
Chr2:31610692 [GRCh37]
Chr2:2p23.1
benign|likely benign
NM_000379.4(XDH):c.1319T>A (p.Val440Asp) single nucleotide variant Hereditary xanthinuria type 1 [RCV001140127]|Xanthinuria type II [RCV002556980] Chr2:31377161 [GRCh38]
Chr2:31600027 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.*1264G>A single nucleotide variant Hereditary xanthinuria type 1 [RCV001140434] Chr2:31334694 [GRCh38]
Chr2:31557560 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.3405-15T>C single nucleotide variant Hereditary xanthinuria type 1 [RCV001139874]|Xanthinuria type II [RCV002070664]|not provided [RCV004711531] Chr2:31342312 [GRCh38]
Chr2:31565178 [GRCh37]
Chr2:2p23.1
benign|likely benign
NM_000379.4(XDH):c.3354C>G (p.Val1118=) single nucleotide variant Hereditary xanthinuria type 1 [RCV001139875] Chr2:31344734 [GRCh38]
Chr2:31567600 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.*437C>T single nucleotide variant Hereditary xanthinuria type 1 [RCV001139778] Chr2:31335521 [GRCh38]
Chr2:31558387 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.*220G>T single nucleotide variant Hereditary xanthinuria type 1 [RCV001139781] Chr2:31335738 [GRCh38]
Chr2:31558604 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.2299A>G (p.Thr767Ala) single nucleotide variant Hereditary xanthinuria type 1 [RCV001140011] Chr2:31366893 [GRCh38]
Chr2:31589759 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.1276C>G (p.Arg426Gly) single nucleotide variant Hereditary xanthinuria type 1 [RCV001140884] Chr2:31377204 [GRCh38]
Chr2:31600070 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.349A>T (p.Thr117Ser) single nucleotide variant Hereditary xanthinuria type 1 [RCV001140984]|Xanthinuria type II [RCV001298851] Chr2:31398657 [GRCh38]
Chr2:31621523 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.280A>C (p.Thr94Pro) single nucleotide variant Hereditary xanthinuria type 1 [RCV001140985] Chr2:31401246 [GRCh38]
Chr2:31624112 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.1427+15C>A single nucleotide variant Hereditary xanthinuria type 1 [RCV001140125]|Xanthinuria type II [RCV001519951] Chr2:31377038 [GRCh38]
Chr2:31599904 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.*1183T>A single nucleotide variant Hereditary xanthinuria type 1 [RCV001140436] Chr2:31334775 [GRCh38]
Chr2:31557641 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.*1062T>C single nucleotide variant Hereditary xanthinuria type 1 [RCV001140437] Chr2:31334896 [GRCh38]
Chr2:31557762 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.*6G>A single nucleotide variant Hereditary xanthinuria type 1 [RCV001140549] Chr2:31335952 [GRCh38]
Chr2:31558818 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.*732T>C single nucleotide variant Hereditary xanthinuria type 1 [RCV001142294] Chr2:31335226 [GRCh38]
Chr2:31558092 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.2197+68G>A single nucleotide variant not provided [RCV001695895] Chr2:31367893 [GRCh38]
Chr2:31590759 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.3148-115T>C single nucleotide variant not provided [RCV001682569] Chr2:31347765 [GRCh38]
Chr2:31570631 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.1133-253T>C single nucleotide variant not provided [RCV001588703] Chr2:31380229 [GRCh38]
Chr2:31603095 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.1856+305T>G single nucleotide variant not provided [RCV001696010] Chr2:31371923 [GRCh38]
Chr2:31594789 [GRCh37]
Chr2:2p23.1
benign
NC_000002.12:g.31415003C>T single nucleotide variant not provided [RCV001669263] Chr2:31415003 [GRCh38]
Chr2:31637869 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.100+68A>C single nucleotide variant not provided [RCV001670288] Chr2:31405839 [GRCh38]
Chr2:31628705 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.3405-153G>A single nucleotide variant not provided [RCV001691714] Chr2:31342450 [GRCh38]
Chr2:31565316 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.794-193A>G single nucleotide variant not provided [RCV001684548] Chr2:31384040 [GRCh38]
Chr2:31606906 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.977T>G (p.Val326Gly) single nucleotide variant Hereditary xanthinuria type 1 [RCV002479326]|Xanthinuria type II [RCV001053559] Chr2:31383062 [GRCh38]
Chr2:31605928 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.1133-222C>T single nucleotide variant not provided [RCV001710694] Chr2:31380198 [GRCh38]
Chr2:31603064 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.2970-230T>G single nucleotide variant not provided [RCV001696379] Chr2:31349210 [GRCh38]
Chr2:31572076 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.3520-45A>G single nucleotide variant not provided [RCV001707995] Chr2:31341439 [GRCh38]
Chr2:31564305 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.1687-132C>T single nucleotide variant not provided [RCV001587852] Chr2:31372529 [GRCh38]
Chr2:31595395 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.793+235A>T single nucleotide variant not provided [RCV001670550] Chr2:31386179 [GRCh38]
Chr2:31609045 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.2197+201C>G single nucleotide variant not provided [RCV001641601] Chr2:31367760 [GRCh38]
Chr2:31590626 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.1132+53T>C single nucleotide variant not provided [RCV001663330] Chr2:31381580 [GRCh38]
Chr2:31604446 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.1980+245G>A single nucleotide variant not provided [RCV001680410] Chr2:31370110 [GRCh38]
Chr2:31592976 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.652-312dup duplication not provided [RCV001690533] Chr2:31386865..31386866 [GRCh38]
Chr2:31609731..31609732 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.2197+211C>T single nucleotide variant not provided [RCV001709032] Chr2:31367750 [GRCh38]
Chr2:31590616 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.3276+319T>C single nucleotide variant not provided [RCV001691703] Chr2:31347203 [GRCh38]
Chr2:31570069 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.3277-214C>T single nucleotide variant not provided [RCV001692899] Chr2:31347057 [GRCh38]
Chr2:31569923 [GRCh37]
Chr2:2p23.1
benign
NC_000002.12:g.(?_31375360)_(31414686_?)dup duplication Xanthinuria type II [RCV001031824] Chr2:31598226..31637552 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.1133-292T>C single nucleotide variant not provided [RCV001611754] Chr2:31380268 [GRCh38]
Chr2:31603134 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.1603-141A>G single nucleotide variant not provided [RCV001650739] Chr2:31374097 [GRCh38]
Chr2:31596963 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.1856+219C>T single nucleotide variant not provided [RCV001583987] Chr2:31372009 [GRCh38]
Chr2:31594875 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.3649G>A (p.Glu1217Lys) single nucleotide variant Hereditary xanthinuria type 1 [RCV002484280]|Xanthinuria type II [RCV001234240] Chr2:31339614 [GRCh38]
Chr2:31562480 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.2027C>T (p.Pro676Leu) single nucleotide variant Hereditary xanthinuria type 1 [RCV002491660]|Xanthinuria type II [RCV001214149] Chr2:31368614 [GRCh38]
Chr2:31591480 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.460A>G (p.Arg154Gly) single nucleotide variant Xanthinuria type II [RCV001236677] Chr2:31397703 [GRCh38]
Chr2:31620569 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.2360G>A (p.Arg787Gln) single nucleotide variant Hereditary xanthinuria type 1 [RCV001137769]|Inborn genetic diseases [RCV002553344]|Xanthinuria type II [RCV001054353]|not provided [RCV003883541] Chr2:31366072 [GRCh38]
Chr2:31588938 [GRCh37]
Chr2:2p23.1
likely benign|uncertain significance
NM_000379.4(XDH):c.545A>G (p.Asn182Ser) single nucleotide variant Hereditary xanthinuria type 1 [RCV001138407]|Inborn genetic diseases [RCV004032323]|Xanthinuria type II [RCV001882420] Chr2:31388246 [GRCh38]
Chr2:31611112 [GRCh37]
Chr2:2p23.1
likely benign|uncertain significance
NM_000379.4(XDH):c.436A>G (p.Asn146Asp) single nucleotide variant Hereditary xanthinuria type 1 [RCV001138411] Chr2:31397727 [GRCh38]
Chr2:31620593 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.167C>G (p.Ser56Cys) single nucleotide variant Hereditary xanthinuria type 1 [RCV002480709]|Xanthinuria type II [RCV001216215] Chr2:31403078 [GRCh38]
Chr2:31625944 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.988G>A (p.Val330Ile) single nucleotide variant Xanthinuria type II [RCV001061393] Chr2:31383051 [GRCh38]
Chr2:31605917 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.*674C>G single nucleotide variant Hereditary xanthinuria type 1 [RCV001137553] Chr2:31335284 [GRCh38]
Chr2:31558150 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.*686A>C single nucleotide variant Hereditary xanthinuria type 1 [RCV001137552] Chr2:31335272 [GRCh38]
Chr2:31558138 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.1856+10A>G single nucleotide variant Hereditary xanthinuria type 1 [RCV001142627]|XDH-related disorder [RCV003953521] Chr2:31372218 [GRCh38]
Chr2:31595084 [GRCh37]
Chr2:2p23.1
likely benign|uncertain significance
NM_000379.4(XDH):c.670C>T (p.Arg224Trp) single nucleotide variant Hereditary xanthinuria type 1 [RCV001137988]|XDH-related disorder [RCV003906252]|Xanthinuria type II [RCV001351004] Chr2:31386537 [GRCh38]
Chr2:31609403 [GRCh37]
Chr2:2p23.1
benign|uncertain significance
NM_000379.4(XDH):c.*193G>T single nucleotide variant Hereditary xanthinuria type 1 [RCV001139782] Chr2:31335765 [GRCh38]
Chr2:31558631 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.1287T>A (p.Asp429Glu) single nucleotide variant Hereditary xanthinuria type 1 [RCV001140129] Chr2:31377193 [GRCh38]
Chr2:31600059 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.*1220C>T single nucleotide variant Hereditary xanthinuria type 1 [RCV001140435] Chr2:31334738 [GRCh38]
Chr2:31557604 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.*43T>C single nucleotide variant Hereditary xanthinuria type 1 [RCV001140548] Chr2:31335915 [GRCh38]
Chr2:31558781 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.1357G>A (p.Ala453Thr) single nucleotide variant Xanthinuria type II [RCV001215438] Chr2:31377123 [GRCh38]
Chr2:31599989 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.3154A>G (p.Ser1052Gly) single nucleotide variant Hereditary xanthinuria type 1 [RCV001140653]|Xanthinuria type II [RCV001858919] Chr2:31347644 [GRCh38]
Chr2:31570510 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.959C>G (p.Pro320Arg) single nucleotide variant Inborn genetic diseases [RCV003263906]|Xanthinuria type II [RCV001248546]|not provided [RCV004793364] Chr2:31383080 [GRCh38]
Chr2:31605946 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.*193G>A single nucleotide variant Hereditary xanthinuria type 1 [RCV001139783] Chr2:31335765 [GRCh38]
Chr2:31558631 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.3326A>C (p.Asn1109Thr) single nucleotide variant Hereditary xanthinuria type 1 [RCV001139876]|Xanthinuria type II [RCV002070665]|not specified [RCV001702582] Chr2:31346794 [GRCh38]
Chr2:31569660 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.3277-3del deletion Xanthinuria type II [RCV001066757] Chr2:31346846 [GRCh38]
Chr2:31569712 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.1480C>A (p.Leu494Met) single nucleotide variant Hereditary xanthinuria type 1 [RCV001140124]|Xanthinuria type II [RCV001856797] Chr2:31375502 [GRCh38]
Chr2:31598368 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.3886C>T (p.Arg1296Trp) single nucleotide variant Hereditary xanthinuria type 1 [RCV001142398]|XDH-related disorder [RCV003918727]|Xanthinuria type II [RCV001474143]|not provided [RCV001545833] Chr2:31337706 [GRCh38]
Chr2:31560572 [GRCh37]
Chr2:2p23.1
benign|likely benign
NM_000379.4(XDH):c.3953G>A (p.Cys1318Tyr) single nucleotide variant Hereditary xanthinuria type 1 [RCV001140550] Chr2:31336007 [GRCh38]
Chr2:31558873 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.3043C>T (p.Leu1015=) single nucleotide variant Hereditary xanthinuria type 1 [RCV001140654] Chr2:31348907 [GRCh38]
Chr2:31571773 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.3638A>G (p.His1213Arg) single nucleotide variant Xanthinuria type II [RCV001202154] Chr2:31339625 [GRCh38]
Chr2:31562491 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.1663C>A (p.Pro555Thr) single nucleotide variant Hereditary xanthinuria type 1 [RCV001137880]|Xanthinuria type II [RCV001444877] Chr2:31373896 [GRCh38]
Chr2:31596762 [GRCh37]
Chr2:2p23.1
likely benign|uncertain significance
NM_000379.4(XDH):c.652-5C>T single nucleotide variant Hereditary xanthinuria type 1 [RCV001137990] Chr2:31386560 [GRCh38]
Chr2:31609426 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.1819C>T (p.Arg607Trp) single nucleotide variant Hereditary xanthinuria type 1 [RCV002491724]|Xanthinuria type II [RCV001228553] Chr2:31372265 [GRCh38]
Chr2:31595131 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.2344G>A (p.Gly782Arg) single nucleotide variant Hereditary xanthinuria type 1 [RCV001140009] Chr2:31366088 [GRCh38]
Chr2:31588954 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.1304C>A (p.Thr435Asn) single nucleotide variant Hereditary xanthinuria type 1 [RCV001140128] Chr2:31377176 [GRCh38]
Chr2:31600042 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.1450C>T (p.Gln484Ter) single nucleotide variant Hereditary xanthinuria type 1 [RCV001334402] Chr2:31375532 [GRCh38]
Chr2:31598398 [GRCh37]
Chr2:2p23.1
pathogenic
NM_000379.4(XDH):c.3899del (p.Pro1300fs) deletion Hereditary xanthinuria type 1 [RCV001334405] Chr2:31337693 [GRCh38]
Chr2:31560559 [GRCh37]
Chr2:2p23.1
pathogenic
NM_000379.4(XDH):c.706T>A (p.Trp236Arg) single nucleotide variant not provided [RCV002284888] Chr2:31386501 [GRCh38]
Chr2:31609367 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.2751del (p.Gln919fs) deletion Hereditary xanthinuria type 1 [RCV001328532] Chr2:31350104 [GRCh38]
Chr2:31572970 [GRCh37]
Chr2:2p23.1
pathogenic
NM_000379.4(XDH):c.1456G>A (p.Val486Met) single nucleotide variant Hereditary xanthinuria type 1 [RCV001332391]|Xanthinuria type II [RCV001865752] Chr2:31375526 [GRCh38]
Chr2:31598392 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.1630G>A (p.Ala544Thr) single nucleotide variant not provided [RCV002284771] Chr2:31373929 [GRCh38]
Chr2:31596795 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.561C>G (p.His187Gln) single nucleotide variant Inborn genetic diseases [RCV004685683] Chr2:31388230 [GRCh38]
Chr2:31611096 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.2484G>A (p.Leu828=) single nucleotide variant Xanthinuria type II [RCV001304931] Chr2:31365517 [GRCh38]
Chr2:31588383 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.775G>A (p.Val259Met) single nucleotide variant Hereditary xanthinuria type 1 [RCV002486377]|Xanthinuria type II [RCV001341344] Chr2:31386432 [GRCh38]
Chr2:31609298 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.3838C>T (p.Arg1280Cys) single nucleotide variant Xanthinuria type II [RCV001298347] Chr2:31337754 [GRCh38]
Chr2:31560620 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.3206C>G (p.Thr1069Ser) single nucleotide variant Hereditary xanthinuria type 1 [RCV002486154]|Xanthinuria type II [RCV001299789] Chr2:31347592 [GRCh38]
Chr2:31570458 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.2359C>T (p.Arg787Trp) single nucleotide variant Hereditary xanthinuria type 1 [RCV002493758]|Xanthinuria type II [RCV001342898] Chr2:31366073 [GRCh38]
Chr2:31588939 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.3271G>A (p.Val1091Ile) single nucleotide variant Xanthinuria type II [RCV001297107] Chr2:31347527 [GRCh38]
Chr2:31570393 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.3501C>A (p.Cys1167Ter) single nucleotide variant Hereditary xanthinuria type 1 [RCV001334404] Chr2:31342201 [GRCh38]
Chr2:31565067 [GRCh37]
Chr2:2p23.1
pathogenic
NM_000379.4(XDH):c.2956G>A (p.Asp986Asn) single nucleotide variant Xanthinuria type II [RCV001362655] Chr2:31349699 [GRCh38]
Chr2:31572565 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.287C>T (p.Thr96Met) single nucleotide variant Xanthinuria type II [RCV001373661] Chr2:31401239 [GRCh38]
Chr2:31624105 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.429C>G (p.Phe143Leu) single nucleotide variant Hereditary xanthinuria type 1 [RCV002476700]|Xanthinuria type II [RCV001372087] Chr2:31398577 [GRCh38]
Chr2:31621443 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.417T>G (p.Ile139Met) single nucleotide variant Inborn genetic diseases [RCV003169815]|Xanthinuria type II [RCV001362937]|not provided [RCV004793459] Chr2:31398589 [GRCh38]
Chr2:31621455 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.3392C>T (p.Thr1131Ile) single nucleotide variant Xanthinuria type II [RCV001361348] Chr2:31344696 [GRCh38]
Chr2:31567562 [GRCh37]
Chr2:2p23.1
uncertain significance
NC_000002.11:g.(?_31598226)_(31637552_?)dup duplication Xanthinuria type II [RCV001327814] Chr2:31598226..31637552 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.42+1del deletion Hereditary xanthinuria type 1 [RCV001334406] Chr2:31414624 [GRCh38]
Chr2:31637490 [GRCh37]
Chr2:2p23.1
pathogenic
NM_000379.4(XDH):c.704C>T (p.Thr235Met) single nucleotide variant Hereditary xanthinuria type 1 [RCV002486308]|Xanthinuria type II [RCV001325978]|not provided [RCV001796445]|not specified [RCV001796879] Chr2:31386503 [GRCh38]
Chr2:31609369 [GRCh37]
Chr2:2p23.1
benign|likely benign|uncertain significance
NM_000379.4(XDH):c.485C>A (p.Thr162Asn) single nucleotide variant Hereditary xanthinuria type 1 [RCV002486193]|Inborn genetic diseases [RCV002543156]|Xanthinuria type II [RCV001306140] Chr2:31397678 [GRCh38]
Chr2:31620544 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.3263G>C (p.Gly1088Ala) single nucleotide variant Xanthinuria type II [RCV001364562] Chr2:31347535 [GRCh38]
Chr2:31570401 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.3519G>C (p.Lys1173Asn) single nucleotide variant Xanthinuria type II [RCV001366325] Chr2:31342183 [GRCh38]
Chr2:31565049 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.698G>T (p.Arg233Leu) single nucleotide variant Hereditary xanthinuria type 1 [RCV002486449]|Xanthinuria type II [RCV001351028] Chr2:31386509 [GRCh38]
Chr2:31609375 [GRCh37]
Chr2:2p23.1
uncertain significance
NM_000379.4(XDH):c.646_647insGC (p.Leu216fs) insertion Xanthinuria type II [RCV001380176] Chr2:31387815..31387816 [GRCh38]
Chr2:31610681..31610682 [GRCh37]
Chr2:2p23.1
pathogenic
NC_000002.11:g.(?_31595262)_31600062del deletion Xanthinuria type II [RCV001377553]   likely pathogenic
NM_000379.4(XDH):c.717C>T (p.Ala239=) single nucleotide variant Xanthinuria type II [RCV001467002] Chr2:31386490 [GRCh38]
Chr2:31609356 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.2794G>A (p.Ala932Thr) single nucleotide variant Hereditary xanthinuria type 1 [RCV004762151]|XDH-related disorder [RCV003948506]|Xanthinuria type II [RCV001512824] Chr2:31350061 [GRCh38]
Chr2:31572927 [GRCh37]
Chr2:2p23.1
likely pathogenic|benign
NM_000379.4(XDH):c.1647G>T (p.Leu549=) single nucleotide variant Hereditary xanthinuria type 1 [RCV002495731]|Xanthinuria type II [RCV001487573] Chr2:31373912 [GRCh38]
Chr2:31596778 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.887-17C>T single nucleotide variant Xanthinuria type II [RCV001491886] Chr2:31383169 [GRCh38]
Chr2:31606035 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.1343_1350del (p.Glu448fs) deletion Xanthinuria type II [RCV001388890] Chr2:31377130..31377137 [GRCh38]
Chr2:31599996..31600003 [GRCh37]
Chr2:2p23.1
pathogenic
NM_000379.4(XDH):c.3948C>T (p.Thr1316=) single nucleotide variant Xanthinuria type II [RCV001472595] Chr2:31337644 [GRCh38]
Chr2:31560510 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.2457-151T>G single nucleotide variant not provided [RCV001536762] Chr2:31365695 [GRCh38]
Chr2:31588561 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.2100+19_2100+22del deletion Hereditary xanthinuria type 1 [RCV002243273]|Xanthinuria type II [RCV001518815]|not provided [RCV001569737] Chr2:31368519..31368522 [GRCh38]
Chr2:31591385..31591388 [GRCh37]
Chr2:2p23.1
benign|likely benign
NM_000379.4(XDH):c.3952-221C>G single nucleotide variant not provided [RCV001614889] Chr2:31336229 [GRCh38]
Chr2:31559095 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.3404+10G>C single nucleotide variant Xanthinuria type II [RCV001450691] Chr2:31344674 [GRCh38]
Chr2:31567540 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.1427+220G>A single nucleotide variant not provided [RCV001670701] Chr2:31376833 [GRCh38]
Chr2:31599699 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.1980+326G>A single nucleotide variant not provided [RCV001695685] Chr2:31370029 [GRCh38]
Chr2:31592895 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.1428-65A>G single nucleotide variant not provided [RCV001671497] Chr2:31375619 [GRCh38]
Chr2:31598485 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.307-33A>G single nucleotide variant not provided [RCV001614071] Chr2:31398732 [GRCh38]
Chr2:31621598 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.1038+252T>C single nucleotide variant not provided [RCV001613460] Chr2:31382749 [GRCh38]
Chr2:31605615 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.3352-141A>G single nucleotide variant not provided [RCV001709870] Chr2:31344877 [GRCh38]
Chr2:31567743 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.43-200T>G single nucleotide variant not provided [RCV001654165] Chr2:31406164 [GRCh38]
Chr2:31629030 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.886+196G>A single nucleotide variant not provided [RCV001672198] Chr2:31383559 [GRCh38]
Chr2:31606425 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.2457-27G>A single nucleotide variant not provided [RCV001696461] Chr2:31365571 [GRCh38]
Chr2:31588437 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.2544+35A>T single nucleotide variant Hereditary xanthinuria type 1 [RCV002243361]|not provided [RCV001654467] Chr2:31365422 [GRCh38]
Chr2:31588288 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.3277-38G>A single nucleotide variant not provided [RCV001612266] Chr2:31346881 [GRCh38]
Chr2:31569747 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.3405-197G>A single nucleotide variant not provided [RCV001716381] Chr2:31342494 [GRCh38]
Chr2:31565360 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.793+273T>G single nucleotide variant not provided [RCV001653101] Chr2:31386141 [GRCh38]
Chr2:31609007 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.816T>C (p.Asn272=) single nucleotide variant Hereditary xanthinuria type 1 [RCV002506534]|Xanthinuria type II [RCV001458343] Chr2:31383825 [GRCh38]
Chr2:31606691 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.3165G>A (p.Leu1055=) single nucleotide variant Xanthinuria type II [RCV001504721] Chr2:31347633 [GRCh38]
Chr2:31570499 [GRCh37]
Chr2:2p23.1
likely benign
NM_000379.4(XDH):c.434-19dup duplication Xanthinuria type II [RCV001514814] Chr2:31397742..31397743 [GRCh38]
Chr2:31620608..31620609 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.1602+252A>G single nucleotide variant not provided [RCV001538410] Chr2:31375128 [GRCh38]
Chr2:31597994 [GRCh37]
Chr2:2p23.1
benign
NM_000379.4(XDH):c.225C>G (p.Ala75=) single nucleotide variant Hereditary xanthinuria type 1 [