CBS (cystathionine beta-synthase) - Rat Genome Database

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Gene: CBS (cystathionine beta-synthase) Homo sapiens
Analyze
Symbol: CBS
Name: cystathionine beta-synthase
RGD ID: 737316
HGNC Page HGNC:1550
Description: Enables several functions, including S-adenosyl-L-methionine binding activity; carbon monoxide binding activity; and cystathionine beta-synthase activity. Involved in DNA protection; alpha-amino acid metabolic process; and hydrogen sulfide biosynthetic process. Located in cytoplasm and nucleus. Implicated in several diseases, including cerebral infarction; homocystinuria; hyperhomocysteinemia; malaria; and neural tube defect.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: beta-thionase; CBSL; cystathionine beta synthase; cystathionine-beta-synthase; HIP4; methylcysteine synthase; serine sulfhydrase
RGD Orthologs
Mouse
Rat
Chinchilla
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
GRCh382143,053,191 - 43,076,873 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2143,053,191 - 43,076,943 (-)EnsemblGRCh38hg38GRCh38
GRCh372144,473,301 - 44,496,983 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362143,346,370 - 43,369,490 (-)NCBINCBI36Build 36hg18NCBI36
Build 342143,346,369 - 43,369,493NCBI
Celera2129,625,968 - 29,649,139 (-)NCBICelera
Cytogenetic Map21q22.3NCBI
HuRef2129,891,797 - 29,914,621 (-)NCBIHuRef
CHM1_12144,034,200 - 44,057,328 (-)NCBICHM1_1
T2T-CHM13v2.02141,444,310 - 41,468,059 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
1-nitropyrene  (EXP)
17beta-estradiol  (ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
3,3',5,5'-tetrabromobisphenol A  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenylacetic acid  (EXP)
5-fluorouracil  (EXP)
acetamide  (ISO)
acrolein  (EXP)
acrylonitrile  (ISO)
aflatoxin B1  (ISO)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP)
alpha-pinene  (EXP)
alpha-Zearalanol  (ISO)
amino acid  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
avobenzone  (EXP)
azoxystrobin  (ISO)
Benoxacor  (ISO)
benzo[a]pyrene  (EXP)
beta-lapachone  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
Brodifacoum  (ISO)
butan-1-ol  (EXP)
caffeine  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
carbonates  (EXP)
chlordecone  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
cisplatin  (EXP)
clofibric acid  (ISO)
cobalt dichloride  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
Cuprizon  (ISO)
cyanocob(III)alamin  (ISO)
cyclosporin A  (EXP)
D-glucose  (ISO)
deoxynivalenol  (EXP)
diclofenac  (EXP)
dioxygen  (ISO)
disodium selenite  (EXP)
dorsomorphin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
enzyme inhibitor  (EXP)
ethanol  (EXP,ISO)
fenthion  (ISO)
folic acid  (ISO)
formaldehyde  (EXP,ISO)
gallic acid  (EXP)
glucose  (ISO)
glutathione  (ISO)
glycidyl methacrylate  (EXP)
glyphosate  (ISO)
homocysteine  (ISO)
hydrogen sulfide  (EXP,ISO)
hydroquinone  (EXP)
hydroxylamine  (ISO)
imidacloprid  (ISO)
indometacin  (EXP,ISO)
inulin  (ISO)
L-ascorbic acid  (EXP)
L-cysteine  (EXP)
L-methionine  (ISO)
lipopolysaccharide  (ISO)
manganese(II) chloride  (ISO)
methapyrilene  (ISO)
methidathion  (ISO)
methionine  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
Monobutylphthalate  (ISO)
Muraglitazar  (ISO)
N-acetyl-L-cysteine  (ISO)
N-methyl-4-phenylpyridinium  (EXP,ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosomorpholine  (ISO)
nickel dichloride  (ISO)
nitrogen dioxide  (EXP)
ozone  (EXP,ISO)
paracetamol  (EXP,ISO)
paraquat  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
peroxynitrous acid  (EXP)
phenobarbital  (ISO)
phenylhydrazine  (ISO)
pinostrobin  (EXP)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
progesterone  (EXP,ISO)
propiconazole  (ISO)
Propiverine  (ISO)
prostaglandin E2  (ISO)
quercetin  (EXP)
rac-lactic acid  (EXP)
reactive oxygen species  (ISO)
resveratrol  (EXP,ISO)
rotenone  (EXP,ISO)
SB 431542  (EXP)
silicon dioxide  (EXP)
simvastatin  (ISO)
sodium arsenite  (EXP,ISO)
streptozocin  (ISO)
sunitinib  (EXP)
superoxide  (ISO)
tert-butyl hydroperoxide  (EXP)
Tesaglitazar  (ISO)
testosterone  (ISO)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
thiabendazole  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (ISO)
triptonide  (ISO)
troglitazone  (ISO)
trovafloxacin  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP)
vancomycin  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IBA,IDA,IEA)
cytosol  (HDA,TAS)
nucleus  (IDA,IEA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cerebral white matter morphology  (IAGP)
Abnormality of amino acid metabolism  (IAGP)
Abnormality of extrapyramidal motor function  (IAGP)
Abnormality of metabolism/homeostasis  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Amblyopia  (IAGP)
Anorexia  (IAGP)
Anxiety  (IAGP)
Arachnodactyly  (IAGP)
Arterial thrombosis  (IAGP)
Arteriovenous malformation  (IAGP)
Ataxia  (IAGP)
Atypical behavior  (IAGP)
Autistic behavior  (IAGP)
Autosomal recessive inheritance  (IAGP)
Biconcave vertebral bodies  (IAGP)
Brain atrophy  (IAGP)
Brittle hair  (IAGP)
Cataract  (IAGP)
Cerebral ischemia  (IAGP)
Cerebral venous sinus thrombosis  (IAGP)
Childhood onset  (IAGP)
Cutis marmorata  (IAGP)
Dental crowding  (IAGP)
Depression  (IAGP)
Disproportionate tall stature  (IAGP)
Dysarthria  (IAGP)
Dystonia  (IAGP)
Ectopia lentis  (IAGP)
EEG abnormality  (IAGP)
Elevated circulating hepatic transaminase concentration  (IAGP)
Esophageal varix  (IAGP)
Exotropia  (IAGP)
Failure to thrive  (IAGP)
Flushing  (IAGP)
Gastrointestinal hemorrhage  (IAGP)
Generalized myoclonic seizure  (IAGP)
Generalized osteoporosis  (IAGP)
Genu valgum  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Hemiplegia/hemiparesis  (IAGP)
Hepatic steatosis  (IAGP)
Hepatomegaly  (IAGP)
Hernia  (IAGP)
High palate  (IAGP)
Homocystinuria  (IAGP)
Hyperhomocystinemia  (IAGP)
Hypermethioninemia  (IAGP)
Hypertension  (IAGP)
Hypopigmentation of the skin  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Intracranial hemorrhage  (IAGP)
Ischemic stroke  (IAGP)
Joint stiffness  (IAGP)
Juvenile onset  (IAGP)
Kyphoscoliosis  (IAGP)
Kyphosis  (IAGP)
Lens subluxation  (IAGP)
Limitation of joint mobility  (IAGP)
Livedo reticularis  (IAGP)
Malar rash  (IAGP)
Methioninuria  (IAGP)
Mitral valve prolapse  (IAGP)
Myocardial infarction  (IAGP)
Myopia  (IAGP)
Neonatal onset  (IAGP)
Neurodevelopmental delay  (IAGP)
Obsessive-compulsive trait  (IAGP)
Optic atrophy  (IAGP)
Osteoporosis  (IAGP)
Pancreatitis  (IAGP)
Parkinsonism  (IAGP)
Pectus carinatum  (IAGP)
Pectus excavatum  (IAGP)
Personality disorder  (IAGP)
Pes cavus  (IAGP)
Psychosis  (IAGP)
Pulmonary embolism  (IAGP)
Recurrent fractures  (IAGP)
Reduced cystathionine beta-synthase activity in cultured fibroblasts  (IAGP)
Retinal detachment  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sparse scalp hair  (IAGP)
Specific learning disability  (IAGP)
Strabismus  (IAGP)
Stroke  (IAGP)
Subcutaneous hemorrhage  (IAGP)
Tall stature  (IAGP)
Thromboembolism  (IAGP)
Unsteady gait  (IAGP)
Urticaria  (IAGP)
Venous thrombosis  (IAGP)
Visual impairment  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Gene-gene interaction between the cystathionine beta-synthase 31 base pair variable number of tandem repeats and the methylenetetrahydrofolate reductase 677C > T polymorphism on homocysteine levels and risk for neural tube defects. Afman LA, etal., Mol Genet Metab. 2003 Mar;78(3):211-5.
2. Effect of endotoxemia in mice genetically deficient in cystathionine-γ-lyase, cystathionine-β-synthase or 3-mercaptopyruvate sulfurtransferase. Ahmad A, etal., Int J Mol Med. 2016 Dec;38(6):1683-1692. doi: 10.3892/ijmm.2016.2771. Epub 2016 Oct 14.
3. Inhibition of endogenous hydrogen sulfide formation reduces the organ injury caused by endotoxemia. Collin M, etal., Br J Pharmacol. 2005 Oct;146(4):498-505. doi: 10.1038/sj.bjp.0706367.
4. Effect of vitamin B12-deficiency on the activity of hepatic cystathionine beta-synthase in rats. Doi T, etal., J Nutr Sci Vitaminol (Tokyo). 1989 Apr;35(2):101-10. doi: 10.3177/jnsv.35.101.
5. The effect of troglitazone on plasma homocysteine, hepatic and red blood cell S-adenosyl methionine, and S-adenosyl homocysteine and enzymes in homocysteine metabolism in Zucker rats. Fonseca V, etal., Metabolism. 2002 Jun;51(6):783-6. doi: 10.1053/meta.2002.32731.
6. Early-onset ischaemic stroke: analysis of 58 polymorphisms in 17 genes involved in methionine metabolism. Giusti B, etal., Thromb Haemost. 2010 Aug;104(2):231-42. doi: 10.1160/TH09-11-0748. Epub 2010 May 10.
7. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
8. Characterization of homocysteine metabolism in the rat kidney. House JD, etal., Biochem J 1997 Nov 15;328 ( Pt 1):287-92.
9. Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria. Hu FL, etal., Hum Mol Genet. 1993 Nov;2(11):1857-60.
10. Genetic variants of homocysteine metabolizing enzymes and the risk of coronary artery disease. Janosikova B, etal., Mol Genet Metab. 2003 Jul;79(3):167-75.
11. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
12. Hyperhomocysteinemia associated with decreased renal transsulfuration activity in Dahl S rats. Li N, etal., Hypertension. 2006 Jun;47(6):1094-100. Epub 2006 Apr 24.
13. Possible selection of host folate pathway gene polymorphisms in patients with malaria from a malaria endemic region in North East India. Mirgal D, etal., Trans R Soc Trop Med Hyg. 2016 May;110(5):294-8. doi: 10.1093/trstmh/trw026.
14. Prenatal alcohol exposure alters methyl metabolism and programs serotonin transporter and glucocorticoid receptor expression in brain. Ngai YF, etal., Am J Physiol Regul Integr Comp Physiol. 2015 Sep;309(5):R613-22. doi: 10.1152/ajpregu.00075.2015. Epub 2015 Jul 15.
15. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
16. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
17. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
18. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
19. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
20. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
21. Hydrogen sulfide stimulates Mycobacterium tuberculosis respiration, growth and pathogenesis. Saini V, etal., Nat Commun. 2020 Jan 28;11(1):557. doi: 10.1038/s41467-019-14132-y.
22. Polymorphisms of cystathionine beta-synthase gene are associated with susceptibility to sepsis. Sponholz C, etal., Eur J Hum Genet. 2016 Jul;24(7):1041-8. doi: 10.1038/ejhg.2015.231. Epub 2015 Oct 28.
23. Dealing with methionine/homocysteine sulfur: cysteine metabolism to taurine and inorganic sulfur. Stipanuk MH and Ueki I, J Inherit Metab Dis. 2011 Feb;34(1):17-32. doi: 10.1007/s10545-009-9006-9. Epub 2010 Feb 17.
24. Polygenic influence on plasma homocysteine: association of two prevalent mutations, the 844ins68 of cystathionine beta-synthase and A(2756)G of methionine synthase, with lowered plasma homocysteine levels. Tsai MY, etal., Atherosclerosis. 2000 Mar;149(1):131-7. doi: 10.1016/s0021-9150(99)00297-x.
25. Tetrahydrocurcumin ameliorates homocysteinylated cytochrome-c mediated autophagy in hyperhomocysteinemia mice after cerebral ischemia. Tyagi N, etal., J Mol Neurosci. 2012 May;47(1):128-38. doi: 10.1007/s12031-011-9695-z. Epub 2012 Jan 3.
26. CBS and CSE are critical for maintenance of mitochondrial function and glucocorticoid production in adrenal cortex. Wang CN, etal., Antioxid Redox Signal. 2014 Dec 1;21(16):2192-207. doi: 10.1089/ars.2013.5682. Epub 2014 May 27.
27. Hydrogen sulfide improves colonic barrier integrity in DSS-induced inflammation in Caco-2 cells and mice. Zhao H, etal., Int Immunopharmacol. 2016 Oct;39:121-127. doi: 10.1016/j.intimp.2016.07.020. Epub 2016 Jul 26.
28. Upregulation of cystathionine β-synthetase in the arcuate nucleus produces pain hypersensitivity via PKC upregulation and GluN2B phosphorylation in rats with chronic pancreatitis. Zheng H, etal., Sheng Li Xue Bao. 2016 Oct 25;68(5):575-584.
Additional References at PubMed
PMID:404147   PMID:681363   PMID:840498   PMID:1301198   PMID:2894761   PMID:7564249   PMID:7598711   PMID:7611293   PMID:7635485   PMID:7762555   PMID:7849717   PMID:7903580  
PMID:7929220   PMID:7967489   PMID:7981678   PMID:8022826   PMID:8353501   PMID:8528202   PMID:8755636   PMID:8803779   PMID:8990018   PMID:9156316   PMID:9266356   PMID:9361025  
PMID:9383285   PMID:9466992   PMID:9590298   PMID:9790750   PMID:9889017   PMID:10215408   PMID:10338090   PMID:10408774   PMID:10434301   PMID:10462600   PMID:10791559   PMID:10830953  
PMID:11013450   PMID:11074524   PMID:11149614   PMID:11173483   PMID:11204591   PMID:11292330   PMID:11310576   PMID:11341749   PMID:11359213   PMID:11359462   PMID:11434706   PMID:11457468  
PMID:11483494   PMID:11528503   PMID:11575217   PMID:11672761   PMID:11748855   PMID:11758232   PMID:11872884   PMID:12007221   PMID:12015064   PMID:12020105   PMID:12082592   PMID:12124992  
PMID:12154064   PMID:12173932   PMID:12180146   PMID:12186157   PMID:12228232   PMID:12269827   PMID:12379655   PMID:12393509   PMID:12413583   PMID:12427542   PMID:12439143   PMID:12477932  
PMID:12529702   PMID:12642343   PMID:12725044   PMID:12815602   PMID:12889841   PMID:14670973   PMID:14744259   PMID:14977639   PMID:15009965   PMID:15082224   PMID:15228193   PMID:15354395  
PMID:15365998   PMID:15489334   PMID:15503105   PMID:15520012   PMID:15544339   PMID:15554031   PMID:15719048   PMID:15748616   PMID:15755387   PMID:15772012   PMID:15889417   PMID:15922487  
PMID:15972722   PMID:15975077   PMID:16007597   PMID:16013960   PMID:16115349   PMID:16189514   PMID:16196087   PMID:16205833   PMID:16259797   PMID:16274669   PMID:16328059   PMID:16363792  
PMID:16375773   PMID:16422253   PMID:16470595   PMID:16479318   PMID:16505479   PMID:16541333   PMID:16601865   PMID:16709328   PMID:16780588   PMID:16791140   PMID:16792904   PMID:16941496  
PMID:16953589   PMID:17035141   PMID:17087506   PMID:17119116   PMID:17160942   PMID:17311259   PMID:17311260   PMID:17319270   PMID:17327360   PMID:17352495   PMID:17436311   PMID:17540596  
PMID:17548676   PMID:17553479   PMID:17601350   PMID:17621169   PMID:17686644   PMID:17726616   PMID:17891500   PMID:17956124   PMID:17993766   PMID:18029348   PMID:18060852   PMID:18203168  
PMID:18278872   PMID:18398434   PMID:18427977   PMID:18447718   PMID:18454451   PMID:18614746   PMID:18620331   PMID:18622257   PMID:18635682   PMID:18636124   PMID:18676680   PMID:18708589  
PMID:18776696   PMID:18781797   PMID:18785313   PMID:18792976   PMID:18799873   PMID:18818748   PMID:18830263   PMID:18839533   PMID:18936436   PMID:18950795   PMID:18977241   PMID:18977990  
PMID:18988749   PMID:18992148   PMID:19010420   PMID:19019082   PMID:19019335   PMID:19019492   PMID:19048631   PMID:19064578   PMID:19074437   PMID:19112534   PMID:19161160   PMID:19166826  
PMID:19170196   PMID:19238444   PMID:19267073   PMID:19370759   PMID:19424622   PMID:19429038   PMID:19447967   PMID:19493349   PMID:19527514   PMID:19531479   PMID:19559392   PMID:19593657  
PMID:19625176   PMID:19657138   PMID:19657388   PMID:19683694   PMID:19692168   PMID:19722721   PMID:19729796   PMID:19737740   PMID:19906435   PMID:19913121   PMID:19948975   PMID:20031554  
PMID:20031578   PMID:20056620   PMID:20066033   PMID:20082058   PMID:20140262   PMID:20160465   PMID:20217437   PMID:20237949   PMID:20301299   PMID:20301334   PMID:20301697   PMID:20308073  
PMID:20346360   PMID:20379614   PMID:20453000   PMID:20490928   PMID:20506325   PMID:20544798   PMID:20559280   PMID:20565774   PMID:20601281   PMID:20615890   PMID:20628086   PMID:20634891  
PMID:20638879   PMID:20670920   PMID:20707729   PMID:20717043   PMID:20718043   PMID:20737570   PMID:20883119   PMID:20890573   PMID:20939734   PMID:20948192   PMID:21045269   PMID:21055808  
PMID:21062078   PMID:21104445   PMID:21139048   PMID:21273695   PMID:21319273   PMID:21417705   PMID:21516116   PMID:21517828   PMID:21520339   PMID:21564312   PMID:21626167   PMID:21653829  
PMID:21873635   PMID:21886822   PMID:21890473   PMID:21900206   PMID:21917271   PMID:21957013   PMID:21988832   PMID:22002135   PMID:22069143   PMID:22118674   PMID:22236648   PMID:22253703  
PMID:22310774   PMID:22333527   PMID:22353391   PMID:22470444   PMID:22484094   PMID:22512572   PMID:22612060   PMID:22665368   PMID:22738154   PMID:22863883   PMID:22891245   PMID:22977242  
PMID:22985361   PMID:23002992   PMID:23117410   PMID:23124209   PMID:23143240   PMID:23152928   PMID:23251661   PMID:23430030   PMID:23718855   PMID:23720494   PMID:23790103   PMID:23824729  
PMID:23836652   PMID:23954866   PMID:23974653   PMID:23981774   PMID:24211323   PMID:24236104   PMID:24316487   PMID:24416422   PMID:24437588   PMID:24515102   PMID:24534463   PMID:24577139  
PMID:24651765   PMID:24654937   PMID:24667534   PMID:24705354   PMID:24816252   PMID:24893130   PMID:24914509   PMID:25044645   PMID:25184538   PMID:25197074   PMID:25331909   PMID:25336647  
PMID:25343990   PMID:25416956   PMID:25455305   PMID:25502805   PMID:25516282   PMID:25636110   PMID:25873304   PMID:25921289   PMID:25939784   PMID:26051168   PMID:26344197   PMID:26452259  
PMID:26460077   PMID:26519441   PMID:26540672   PMID:26549023   PMID:26582199   PMID:26667307   PMID:26749456   PMID:26752685   PMID:26805382   PMID:26867575   PMID:26955774   PMID:26972000  
PMID:27039165   PMID:27107012   PMID:27107014   PMID:27173435   PMID:27432908   PMID:27535090   PMID:27565814   PMID:27773468   PMID:27861796   PMID:28121025   PMID:28188925   PMID:28252168  
PMID:28339573   PMID:28375104   PMID:28488385   PMID:28515276   PMID:28750410   PMID:28777022   PMID:28923859   PMID:29102635   PMID:29229926   PMID:29298893   PMID:29331416   PMID:29352562  
PMID:29410458   PMID:29549916   PMID:29600437   PMID:29955894   PMID:30021884   PMID:30030379   PMID:30380942   PMID:30394829   PMID:30396922   PMID:30408270   PMID:30539696   PMID:30585266  
PMID:30720153   PMID:30722010   PMID:30948266   PMID:30968424   PMID:31048545   PMID:31091453   PMID:31481613   PMID:31495752   PMID:31515488   PMID:31542354   PMID:31586073   PMID:31778995  
PMID:31819185   PMID:31864233   PMID:31950832   PMID:32044878   PMID:32129710   PMID:32184133   PMID:32203420   PMID:32239614   PMID:32296183   PMID:32612202   PMID:32698014   PMID:32800907  
PMID:32814053   PMID:32971831   PMID:33138824   PMID:33239621   PMID:33382484   PMID:33443292   PMID:33483253   PMID:33545068   PMID:33558454   PMID:33729478   PMID:33916271   PMID:34074348  
PMID:34342182   PMID:34428256   PMID:34495791   PMID:34737229   PMID:34761192   PMID:35356984   PMID:35499052   PMID:35509820   PMID:35546148   PMID:35563538   PMID:35914814   PMID:35944360  
PMID:36057605   PMID:36168627   PMID:36180891   PMID:36215168   PMID:36476832   PMID:36538041   PMID:36543142   PMID:37223481   PMID:37267103   PMID:37314180   PMID:37314216   PMID:37317656  
PMID:37827155   PMID:37864623   PMID:37949228   PMID:38113892   PMID:38238950   PMID:38488417   PMID:38563463   PMID:38575566   PMID:39041895   PMID:39147351   PMID:39324183  


Genomics

Comparative Map Data
CBS
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382143,053,191 - 43,076,873 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2143,053,191 - 43,076,943 (-)EnsemblGRCh38hg38GRCh38
GRCh372144,473,301 - 44,496,983 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362143,346,370 - 43,369,490 (-)NCBINCBI36Build 36hg18NCBI36
Build 342143,346,369 - 43,369,493NCBI
Celera2129,625,968 - 29,649,139 (-)NCBICelera
Cytogenetic Map21q22.3NCBI
HuRef2129,891,797 - 29,914,621 (-)NCBIHuRef
CHM1_12144,034,200 - 44,057,328 (-)NCBICHM1_1
T2T-CHM13v2.02141,444,310 - 41,468,059 (-)NCBIT2T-CHM13v2.0
Cbs
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391731,831,602 - 31,856,170 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1731,827,868 - 31,856,212 (-)EnsemblGRCm39 Ensembl
GRCm381731,612,623 - 31,637,233 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1731,608,894 - 31,637,238 (-)EnsemblGRCm38mm10GRCm38
MGSCv371731,749,589 - 31,774,086 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361731,341,354 - 31,365,851 (-)NCBIMGSCv36mm8
Celera1732,529,962 - 32,554,408 (-)NCBICelera
Cytogenetic Map17B1NCBI
cM Map1716.93NCBI
Cbs
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8209,709,394 - 9,733,925 (-)NCBIGRCr8
mRatBN7.2209,708,089 - 9,732,623 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl209,708,090 - 9,732,764 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2010,408,753 - 10,433,368 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0209,769,935 - 9,794,554 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02010,239,612 - 10,263,909 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02010,361,987 - 10,386,663 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2010,361,988 - 10,386,751 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02012,549,959 - 12,574,111 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42010,047,478 - 10,075,520 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12010,047,871 - 10,075,744 (-)NCBI
Celera2011,221,836 - 11,246,354 (-)NCBICelera
RH 3.4 Map20114.36RGD
Cytogenetic Map20p12NCBI
Cbs
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540738,924,321 - 38,939,790 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540738,924,355 - 38,939,790 (+)NCBIChiLan1.0ChiLan1.0
CBS
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22239,110,114 - 39,134,790 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12133,962,881 - 33,987,091 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02129,361,519 - 29,385,610 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12142,670,530 - 42,693,300 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2142,670,530 - 42,690,932 (-)Ensemblpanpan1.1panPan2
CBS
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13137,230,900 - 37,247,170 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3136,381,153 - 36,399,797 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03136,773,609 - 36,792,296 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3136,773,643 - 36,792,300 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13136,640,852 - 36,659,539 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03136,620,580 - 36,639,238 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03137,118,109 - 37,136,774 (-)NCBIUU_Cfam_GSD_1.0
Cbs
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440497136,464,257 - 36,490,204 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936500987,128 - 1,003,388 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936500976,043 - 1,003,559 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CBS
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13206,205,946 - 206,230,248 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113206,205,942 - 206,231,363 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
LOC103221104
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1286,905,104 - 86,933,780 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605414,889,500 - 14,930,985 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cbs
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474527,673,748 - 27,688,462 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474527,676,430 - 27,687,573 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CBS
1138 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000071.3(CBS):c.1451A>T (p.Tyr484Phe) single nucleotide variant HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002232083] Chr21:43058161 [GRCh38]
Chr21:44478271 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_000071.3(CBS):c.1341C>T (p.Pro447=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002384200]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002530066]|not provided [RCV001707734]|not specified [RCV003330783] Chr21:43058851 [GRCh38]
Chr21:44478961 [GRCh37]
Chr21:21q22.3		 likely benign
NM_000071.3(CBS):c.1205T>C (p.Leu402Pro) single nucleotide variant Classic homocystinuria [RCV000555545]|Familial thoracic aortic aneurysm and aortic dissection [RCV002350329]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV003153722] Chr21:43059244 [GRCh38]
Chr21:44479354 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_000071.3(CBS):c.919G>A (p.Gly307Ser) single nucleotide variant CBS-related disorder [RCV003914786]|Classic homocystinuria [RCV000173641]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313701]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV000000138]|Homocystinuria [RCV000366433]|Homocystinuria, pyridoxine-nonresponsive [RCV000000137]|not provided [RCV000078112] Chr21:43062988 [GRCh38]
Chr21:44483098 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_000071.3(CBS):c.434C>T (p.Pro145Leu) single nucleotide variant Classic homocystinuria [RCV000625555]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002227955]|Homocystinuria [RCV001250193]|Homocystinuria, pyridoxine-responsive [RCV000000139] Chr21:43066260 [GRCh38]
Chr21:44486370 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
NM_000071.3(CBS):c.341C>T (p.Ala114Val) single nucleotide variant CBS-related disorder [RCV003952330]|Classic homocystinuria [RCV000490533]|Familial thoracic aortic aneurysm and aortic dissection [RCV002453244]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002227956]|Homocystinuria [RCV000590659]|Homocystinuria, pyridoxine-responsive [RCV000000140]|not provided [RCV000200823] Chr21:43066353 [GRCh38]
Chr21:44486463 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity
NM_000071.3(CBS):c.833T>C (p.Ile278Thr) single nucleotide variant Classic homocystinuria [RCV000173640]|Connective tissue disorder [RCV002276525]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310621]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV000000142]|Homocystinuria [RCV000781197]|Homocystinuria, pyridoxine-responsive [RCV000000141]|Intellectual disability [RCV001252178]|See cases [RCV003128384]|Thoracic aortic aneurysm or dissection [RCV004584135]|not provided [RCV000078111] Chr21:43063074 [GRCh38]
Chr21:44483184 [GRCh37]
Chr21:21q22.3		 pathogenic|benign|uncertain significance
NM_000071.3(CBS):c.415G>A (p.Gly139Arg) single nucleotide variant HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV003764500]|Homocystinuria, pyridoxine-responsive [RCV000000143]|not specified [RCV002468954] Chr21:43066279 [GRCh38]
Chr21:44486389 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic|uncertain significance
NM_000071.3(CBS):c.430G>A (p.Glu144Lys) single nucleotide variant CBS-related disorder [RCV003415595]|Classic homocystinuria [RCV000169074]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002227957]|Homocystinuria [RCV001251284]|Homocystinuria, pyridoxine-responsive [RCV000000144]|not provided [RCV000723427] Chr21:43066264 [GRCh38]
Chr21:44486374 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000071.3(CBS):c.1150A>G (p.Lys384Glu) single nucleotide variant HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV003495103]|Homocystinuria, pyridoxine-responsive [RCV000000145] Chr21:43059299 [GRCh38]
Chr21:44479409 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
NM_000071.3(CBS):c.1616T>C (p.Leu539Ser) single nucleotide variant Classic homocystinuria [RCV000675072]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV003597960]|Homocystinuria [RCV002468955]|Homocystinuria, pyridoxine-responsive [RCV000000146] Chr21:43053920 [GRCh38]
Chr21:44474030 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records
NM_000071.3(CBS):c.797G>A (p.Arg266Lys) single nucleotide variant Classic homocystinuria [RCV000469164]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313702]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002227958]|Homocystinuria [RCV001192721]|Homocystinuria, pyridoxine-responsive [RCV000000147]|not provided [RCV001546787] Chr21:43063931 [GRCh38]
Chr21:44484041 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
NM_000071.3(CBS):c.1330G>A (p.Asp444Asn) single nucleotide variant CBS-related disorder [RCV004754226]|Classic homocystinuria [RCV000174656]|Familial thoracic aortic aneurysm and aortic dissection [RCV002381232]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV000000149]|Homocystinuria [RCV000781196]|Homocystinuria, pyridoxine-responsive [RCV000000148]|not provided [RCV000078108] Chr21:43058862 [GRCh38]
Chr21:44478972 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|drug response
NM_000071.3(CBS):c.502G>A (p.Val168Met) single nucleotide variant Classic homocystinuria [RCV000458159]|Familial hypercholesterolemia [RCV004540986]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310622]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002227959]|Homocystinuria [RCV002265542]|Homocystinuria, pyridoxine-responsive [RCV000000150]|not provided [RCV000179250] Chr21:43065645 [GRCh38]
Chr21:44485755 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000071.3(CBS):c.1224-2A>C single nucleotide variant CBS-related disorder [RCV003944786]|Classic homocystinuria [RCV000174658]|Familial thoracic aortic aneurysm and aortic dissection [RCV002354142]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002227960]|Homocystinuria [RCV000590542]|Homocystinuria, pyridoxine-responsive [RCV000000151]|not provided [RCV000198380] Chr21:43058970 [GRCh38]
Chr21:44479080 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_000071.3(CBS):c.1265C>T (p.Pro422Leu) single nucleotide variant Classic homocystinuria [RCV000675050]|Familial thoracic aortic aneurysm and aortic dissection [RCV002444412]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV000000152]|not provided [RCV000522394] Chr21:43058927 [GRCh38]
Chr21:44479037 [GRCh37]
Chr21:21q22.3		 pathogenic|uncertain significance
NM_000071.3(CBS):c.1397C>T (p.Ser466Leu) single nucleotide variant Classic homocystinuria [RCV000675119]|Familial thoracic aortic aneurysm and aortic dissection [RCV002390082]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV000000153]|not specified [RCV003226154] Chr21:43058215 [GRCh38]
Chr21:44478325 [GRCh37]
Chr21:21q22.3		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000071.3(CBS):c.1058C>T (p.Thr353Met) single nucleotide variant Classic homocystinuria [RCV000169466]|Familial thoracic aortic aneurysm and aortic dissection [RCV004018522]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002227961]|Homocystinuria [RCV002271361]|Homocystinuria, pyridoxine-nonresponsive [RCV000000154]|not provided [RCV000078106] Chr21:43060528 [GRCh38]
Chr21:44480638 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000071.3(CBS):c.572C>T (p.Thr191Met) single nucleotide variant CBS-related disorder [RCV003914787]|Classic homocystinuria [RCV000576767]|Familial thoracic aortic aneurysm and aortic dissection [RCV004018523]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002227962]|Homocystinuria [RCV000589097]|Homocystinuria, pyridoxine-nonresponsive [RCV000000155]|not provided [RCV000195441] Chr21:43065481 [GRCh38]
Chr21:44485591 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
CBS, 68-BP INS insertion CYSTATHIONINE BETA-SYNTHETASE POLYMORPHISM [RCV000000156] Chr21:21q22.3 benign
NM_000071.3(CBS):c.737-1G>C single nucleotide variant Classic homocystinuria [RCV000544919]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002232086]|Homocystinuria [RCV001260387]|not provided [RCV003128628] Chr21:43063992 [GRCh38]
Chr21:44484102 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
NM_000071.3(CBS):c.887C>T (p.Thr296Met) single nucleotide variant Classic homocystinuria [RCV000558244]|Familial thoracic aortic aneurysm and aortic dissection [RCV002377130]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002530068] Chr21:43063020 [GRCh38]
Chr21:44483130 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_000071.3(CBS):c.369C>A (p.Ser123Arg) single nucleotide variant HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV003597981] Chr21:43066325 [GRCh38]
Chr21:44486435 [GRCh37]
Chr21:21q22.3		 likely pathogenic|uncertain significance
GRCh38/hg38 21q22.3(chr21:42232926-46670405)x1 copy number loss See cases [RCV000050746] Chr21:42232926..46670405 [GRCh38]
Chr21:43653036..48090317 [GRCh37]
Chr21:42526105..46914745 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000050445] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1 copy number loss See cases [RCV000051022] Chr21:41285201..46670405 [GRCh38]
Chr21:42657128..48090317 [GRCh37]
Chr21:41578998..46914745 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:35027972-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|See cases [RCV000052836] Chr21:35027972..46670405 [GRCh38]
Chr21:36400269..48090317 [GRCh37]
Chr21:35322139..46914745 [NCBI36]
Chr21:21q22.12-22.3		 pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:38273492-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|See cases [RCV000052838] Chr21:38273492..46670405 [GRCh38]
Chr21:39645414..48090317 [GRCh37]
Chr21:38567284..46914745 [NCBI36]
Chr21:21q22.13-22.3		 pathogenic
GRCh38/hg38 21q22.2-22.3(chr21:40127825-46670546)x1 copy number loss See cases [RCV000052839] Chr21:40127825..46670546 [GRCh38]
Chr21:41499752..48090458 [GRCh37]
Chr21:40421622..46914886 [NCBI36]
Chr21:21q22.2-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053042] Chr21:7749532..46623792 [GRCh38]
Chr21:14595524..48043704 [GRCh37]
Chr21:13517395..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053043] Chr21:7749532..46623792 [GRCh38]
Chr21:14629063..48043704 [GRCh37]
Chr21:13550934..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3 copy number gain See cases [RCV000053045] Chr21:7749532..46670546 [GRCh38]
Chr21:15499647..48090458 [GRCh37]
Chr21:14421518..46914886 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053065] Chr21:7749532..46661140 [GRCh38]
Chr21:15499647..48081052 [GRCh37]
Chr21:14421518..46905480 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053067] Chr21:7749532..46661140 [GRCh38]
Chr21:15499847..48081052 [GRCh37]
Chr21:14421718..46905480 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053068] Chr21:7749532..46670405 [GRCh38]
Chr21:20655360..48090317 [GRCh37]
Chr21:19577231..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053069] Chr21:7749532..46670405 [GRCh38]
Chr21:34423268..48090317 [GRCh37]
Chr21:33345138..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053039] Chr21:7749532..46623792 [GRCh38]
Chr21:14524963..48043704 [GRCh37]
Chr21:13446834..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3 copy number gain See cases [RCV000053040] Chr21:7749532..46653090 [GRCh38]
Chr21:14539679..48073002 [GRCh37]
Chr21:13461550..46897430 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
NM_000071.2(CBS):c.1141T>A (p.Tyr381Asn) single nucleotide variant Malignant melanoma [RCV000072856] Chr21:43060445 [GRCh38]
Chr21:44480555 [GRCh37]
Chr21:43353624 [NCBI36]
Chr21:21q22.3		 not provided
NM_000071.2(CBS):c.1060G>A (p.Val354Met) single nucleotide variant Malignant melanoma [RCV000072857] Chr21:43060526 [GRCh38]
Chr21:44480636 [GRCh37]
Chr21:43353705 [NCBI36]
Chr21:21q22.3		 not provided
NM_000071.3(CBS):c.1006C>T (p.Arg336Cys) single nucleotide variant CBS-related disorder [RCV003905038]|Classic homocystinuria [RCV000169310]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002228199]|Homocystinuria [RCV001280568]|not provided [RCV000078105] Chr21:43062344 [GRCh38]
Chr21:44482454 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_000071.3(CBS):c.1080C>T (p.Ala360=) single nucleotide variant Classic homocystinuria [RCV000611179]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310651]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002228200]|not provided [RCV001356690]|not specified [RCV000078107] Chr21:43060506 [GRCh38]
Chr21:44480616 [GRCh37]
Chr21:21q22.3		 benign|uncertain significance
NM_000071.3(CBS):c.435G>A (p.Pro145=) single nucleotide variant Classic homocystinuria [RCV001088690]|Familial thoracic aortic aneurysm and aortic dissection [RCV003343633]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002228201]|not provided [RCV000078109]|not specified [RCV004700387] Chr21:43066259 [GRCh38]
Chr21:44486369 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000071.3(CBS):c.699C>T (p.Tyr233=) single nucleotide variant Classic homocystinuria [RCV000600783]|Connective tissue disorder [RCV002277141]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310652]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002228202]|not provided [RCV001811356]|not specified [RCV000078110] Chr21:43065240 [GRCh38]
Chr21:44485350 [GRCh37]
Chr21:21q22.3		 benign
NM_000071.3(CBS):c.531+11G>A single nucleotide variant Classic homocystinuria [RCV000625490]|Familial thoracic aortic aneurysm and aortic dissection [RCV002345430]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002228266]|not provided [RCV001795224]|not specified [RCV000124146] Chr21:43065605 [GRCh38]
Chr21:44485715 [GRCh37]
Chr21:21q22.3		 benign|likely benign|uncertain significance
NM_000071.3(CBS):c.573G>A (p.Thr191=) single nucleotide variant Classic homocystinuria [RCV000755228]|Connective tissue disorder [RCV002277186]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310681]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002228267]|not provided [RCV001795225]|not specified [RCV000179709] Chr21:43065480 [GRCh38]
Chr21:44485590 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_000071.3(CBS):c.636C>T (p.Asn212=) single nucleotide variant CBS-related disorder [RCV003952644]|Classic homocystinuria [RCV000540728]|Connective tissue disorder [RCV002277187]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311008]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002512522]|not provided [RCV003736583]|not specified [RCV000124148] Chr21:43065417 [GRCh38]
Chr21:43065417..43065418 [GRCh38]
Chr21:44485527 [GRCh37]
Chr21:44485527..44485528 [GRCh37]
Chr21:21q22.3		 benign|uncertain significance
NM_000071.3(CBS):c.829-14C>T single nucleotide variant HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002055449]|not provided [RCV003736584]|not specified [RCV000124150] Chr21:43063092 [GRCh38]
Chr21:44483202 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_000071.3(CBS):c.829-13G>A single nucleotide variant CBS-related disorder [RCV003915241]|Classic homocystinuria [RCV000287047]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002228268]|not provided [RCV002227066]|not specified [RCV000124151] Chr21:43063091 [GRCh38]
Chr21:44483201 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000071.3(CBS):c.829-12C>T single nucleotide variant Classic homocystinuria [RCV000326905]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002228269]|not provided [RCV001812000]|not specified [RCV000124152] Chr21:43063090 [GRCh38]
Chr21:44483200 [GRCh37]
Chr21:21q22.3		 benign|uncertain significance
NM_000071.3(CBS):c.954+8G>A single nucleotide variant Classic homocystinuria [RCV000536701]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002228270]|not specified [RCV000173642] Chr21:43062945 [GRCh38]
Chr21:44483055 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000071.3(CBS):c.1039+19C>T single nucleotide variant Classic homocystinuria [RCV002477328]|Familial thoracic aortic aneurysm and aortic dissection [RCV004017411]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002228271]|not provided [RCV003736585]|not specified [RCV000124154] Chr21:43062292 [GRCh38]
Chr21:44482402 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_000071.3(CBS):c.1145+7C>T single nucleotide variant Classic homocystinuria [RCV000206277]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002228272]|not provided [RCV001573779]|not specified [RCV000174216] Chr21:43060434 [GRCh38]
Chr21:44480544 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_000071.2:c.+10C>A single nucleotide variant not provided [RCV000124157] Chr21:21q22.3 benign
NM_000071.3(CBS):c.*18G>A single nucleotide variant Classic homocystinuria [RCV001142671]|not provided [RCV001698966]|not specified [RCV000124158] Chr21:43053862 [GRCh38]
Chr21:44473972 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000071.3(CBS):c.304A>C (p.Lys102Gln) single nucleotide variant Classic homocystinuria [RCV000233317]|Connective tissue disorder [RCV002277188]|Familial thoracic aortic aneurysm and aortic dissection [RCV002312820]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002228454]|not provided [RCV000224394]|not specified [RCV000178036] Chr21:43068521 [GRCh38]
Chr21:44488631 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_000071.3(CBS):c.1218del (p.Lys406fs) deletion Classic homocystinuria [RCV000174443]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV001852126]|not provided [RCV000724407] Chr21:43059231 [GRCh38]
Chr21:44479341 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
NM_000071.3(CBS):c.1257G>A (p.Leu419=) single nucleotide variant Connective tissue disorder [RCV002277343]|Familial thoracic aortic aneurysm and aortic dissection [RCV002415744]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002228618]|not provided [RCV001812151]|not specified [RCV000174657] Chr21:43058935 [GRCh38]
Chr21:44479045 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000071.2(CBS):c.1224-2A>C single nucleotide variant Homocystinuria due to CBS deficiency [RCV000174658] Chr21:43058970 [GRCh38]
Chr21:44479080 [GRCh37]		 pathogenic
NM_000071.2:c.832_833insCTGGGGTGGATCA insertion Classic homocystinuria [RCV001332164] Chr21:43063074..43063075 [GRCh38]
Chr21:44483184..44483185 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_000071.3(CBS):c.374G>A (p.Arg125Gln) single nucleotide variant Classic homocystinuria [RCV000178709]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002228790]|Homocystinuria [RCV001804908]|not provided [RCV000723426] Chr21:43066320 [GRCh38]
Chr21:44486430 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
NM_000071.3(CBS):c.785C>T (p.Thr262Met) single nucleotide variant Classic homocystinuria [RCV000180461]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002228800]|Homocystinuria [RCV001251422]|not provided [RCV000200469] Chr21:43063943 [GRCh38]
Chr21:44484053 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000071.3(CBS):c.992C>T (p.Ala331Val) single nucleotide variant Classic homocystinuria [RCV003462276]|Familial thoracic aortic aneurysm and aortic dissection [RCV004601121]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002516607]|Intellectual disability [RCV001252181]|not provided [RCV000173977] Chr21:43062358 [GRCh38]
Chr21:44482468 [GRCh37]
Chr21:21q22.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records
NM_000071.3(CBS):c.1005C>T (p.Ala335=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002408755]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002516608]|not provided [RCV000173978] Chr21:43062345 [GRCh38]
Chr21:44482455 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_000071.3(CBS):c.1072G>A (p.Val358Met) single nucleotide variant Classic homocystinuria [RCV000474043]|Familial thoracic aortic aneurysm and aortic dissection [RCV002415740]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002517673]|not provided [RCV000420634] Chr21:43060514 [GRCh38]
Chr21:44480624 [GRCh37]
Chr21:21q22.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_000071.3(CBS):c.845_846insGAAGGGTCCATCCTCGCAGAGCCGGAGGAGCTGAACCAGACGGAGCAGACAACCTACGAGGTGGAACC (p.Pro282_Glu283insLysGlyProSerSerGlnSerArgArgSerTer) insertion not specified [RCV000152935] Chr21:43063061..43063062 [GRCh38]
Chr21:44483171..44483172 [GRCh37]
Chr21:21q22.3		 benign
GRCh38/hg38 21q22.3(chr21:43071168-46670405)x1 copy number loss See cases [RCV000133675] Chr21:43071168..46670405 [GRCh38]
Chr21:44491278..48090317 [GRCh37]
Chr21:43364347..46914745 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3 copy number gain See cases [RCV000134727] Chr21:7749532..46653084 [GRCh38]
Chr21:15485038..48072996 [GRCh37]
Chr21:14406909..46897424 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3 copy number gain See cases [RCV000134509] Chr21:7749532..46649831 [GRCh38]
Chr21:14577835..48069743 [GRCh37]
Chr21:13499706..46894171 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134119] Chr21:7749532..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000135310] Chr21:7749532..46670346 [GRCh38]
Chr21:34111831..48090258 [GRCh37]
Chr21:33033702..46914686 [NCBI36]
Chr21:21q22.11-22.3		 pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3 copy number gain See cases [RCV000134972] Chr21:36206067..46670405 [GRCh38]
Chr21:37578365..48090317 [GRCh37]
Chr21:36500235..46914745 [NCBI36]
Chr21:21q22.12-22.3		 pathogenic
NM_000071.3(CBS):c.1526C>T (p.Ala509Val) single nucleotide variant not provided [RCV000174986] Chr21:43056829 [GRCh38]
Chr21:44476939 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_000071.3(CBS):c.1527C>T (p.Ala509=) single nucleotide variant HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002516656]|not provided [RCV000174987] Chr21:43056828 [GRCh38]
Chr21:44476938 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3 copy number gain See cases [RCV000134836] Chr21:7749532..46664250 [GRCh38]
Chr21:15485038..48084162 [GRCh37]
Chr21:14406909..46908590 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134842] Chr21:7749532..46670440 [GRCh38]
Chr21:15513244..48090352 [GRCh37]
Chr21:14435115..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3 copy number gain See cases [RCV000135448] Chr21:7749532..46660999 [GRCh38]
Chr21:15499847..48080911 [GRCh37]
Chr21:14421718..46905339 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
NM_000071.3(CBS):c.*10C>A single nucleotide variant Classic homocystinuria [RCV000343292]|not provided [RCV004717075]|not specified [RCV000175120] Chr21:43053870 [GRCh38]
Chr21:44473980 [GRCh37]
Chr21:21q22.3		 benign
GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3 copy number gain See cases [RCV000136142] Chr21:36519173..46670405 [GRCh38]
Chr21:37891471..48090317 [GRCh37]
Chr21:36813341..46914745 [NCBI36]
Chr21:21q22.13-22.3		 pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1 copy number loss See cases [RCV000136828] Chr21:34789953..46636538 [GRCh38]
Chr21:36162250..48056450 [GRCh37]
Chr21:35084120..46880878 [NCBI36]
Chr21:21q22.12-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137255] Chr21:7749532..46671060 [GRCh38]
Chr21:35319225..48090972 [GRCh37]
Chr21:34241095..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137337] Chr21:7749532..46671060 [GRCh38]
Chr21:10697897..48090972 [GRCh37]
Chr21:1..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1 copy number loss See cases [RCV000137341] Chr21:41733640..46671060 [GRCh38]
Chr21:43153800..48090972 [GRCh37]
Chr21:42026869..46915400 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138216] Chr21:7749532..46671060 [GRCh38]
Chr21:10944001..48090972 [GRCh37]
Chr21:9965872..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1 copy number loss See cases [RCV000138096] Chr21:37669628..46671060 [GRCh38]
Chr21:39041930..48090972 [GRCh37]
Chr21:37963800..46915400 [NCBI36]
Chr21:21q22.13-22.3		 pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3 copy number gain See cases [RCV000138164] Chr21:36066991..46671060 [GRCh38]
Chr21:37439289..48090972 [GRCh37]
Chr21:36361159..46915400 [NCBI36]
Chr21:21q22.12-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138436] Chr21:7749532..46671060 [GRCh38]
Chr21:15451032..48090972 [GRCh37]
Chr21:14372903..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1 copy number loss See cases [RCV000139158] Chr21:40296025..46670440 [GRCh38]
Chr21:41667952..48090352 [GRCh37]
Chr21:40589822..46914780 [NCBI36]
Chr21:21q22.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000140103] Chr21:7749532..46670346 [GRCh38]
Chr21:14577894..48090258 [GRCh37]
Chr21:13499765..46914686 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3 copy number gain See cases [RCV000141346] Chr21:7749532..46698247 [GRCh38]
Chr21:14577835..48118159 [GRCh37]
Chr21:13499706..46942587 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000141827] Chr21:7749532..46677460 [GRCh38]
Chr21:28285299..48097372 [GRCh37]
Chr21:27207170..46921800 [NCBI36]
Chr21:21q21.3-22.3		 uncertain significance
GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1 copy number loss See cases [RCV000142311] Chr21:38816399..46677460 [GRCh38]
Chr21:40188323..48097372 [GRCh37]
Chr21:39110193..46921800 [NCBI36]
Chr21:21q22.2-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1 copy number loss See cases [RCV000142427] Chr21:7817158..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143120] Chr21:7749532..46677460 [GRCh38]
Chr21:15006457..48097372 [GRCh37]
Chr21:13928328..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q22.2-22.3(chr21:39375937-44246148)x1 copy number loss See cases [RCV000142650] Chr21:39375937..44246148 [GRCh38]
Chr21:40747863..45666031 [GRCh37]
Chr21:39669733..44490459 [NCBI36]
Chr21:21q22.2-22.3		 pathogenic
GRCh38/hg38 21q22.3(chr21:42913213-46670405)x1 copy number loss See cases [RCV000142600] Chr21:42913213..46670405 [GRCh38]
Chr21:44333323..48090317 [GRCh37]
Chr21:43206392..46914745 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143376] Chr21:7749532..46677460 [GRCh38]
Chr21:15006458..48097372 [GRCh37]
Chr21:13928329..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460) copy number gain See cases [RCV000143160] Chr21:7749532..46677460 [GRCh38]
Chr21:14386013..48097372 [GRCh37]
Chr21:13307884..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1 copy number loss See cases [RCV000143335] Chr21:42129699..46671060 [GRCh38]
Chr21:43549809..48090972 [GRCh37]
Chr21:42422878..46915400 [NCBI36]
Chr21:21q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000148131] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
NM_000071.3(CBS):c.1566del (p.Lys523fs) deletion Classic homocystinuria [RCV000169113]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002228605]|Homocystinuria [RCV001175467] Chr21:43053970 [GRCh38]
Chr21:44474080 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
NM_000071.3(CBS):c.346G>A (p.Gly116Arg) single nucleotide variant Classic homocystinuria [RCV000169116]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002228606]|Homocystinuria [RCV001844063] Chr21:43066348 [GRCh38]
Chr21:44486458 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
NM_000071.3(CBS):c.1039G>A (p.Gly347Ser) single nucleotide variant Classic homocystinuria [RCV000169132]|Familial thoracic aortic aneurysm and aortic dissection [RCV002390401]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002228607]|Homocystinuria [RCV000780082]|not provided [RCV000197584] Chr21:43062311 [GRCh38]
Chr21:44482421 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
NM_000071.3(CBS):c.1136G>A (p.Arg379Gln) single nucleotide variant Classic homocystinuria [RCV000169171]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002517626]|Homocystinuria [RCV004689648]|not provided [RCV000480748] Chr21:43060450 [GRCh38]
Chr21:44480560 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
NM_000071.3(CBS):c.689del (p.Leu230fs) deletion Classic homocystinuria [RCV000169175]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002228608]|Homocystinuria [RCV003226231]|not provided [RCV000198642] Chr21:43065250 [GRCh38]
Chr21:44485360 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
NM_000071.3(CBS):c.667-14_667-7del deletion Classic homocystinuria [RCV000169271]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002228777]|Homocystinuria [RCV000780083]|not provided [RCV000274429] Chr21:43065279..43065286 [GRCh38]
Chr21:44485389..44485396 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000071.3(CBS):c.770C>T (p.Thr257Met) single nucleotide variant Classic homocystinuria [RCV000169294]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002228778]|Homocystinuria [RCV000780084]|Hyperhomocysteinemia [RCV000790997]|See cases [RCV003128393]|not provided [RCV000197988] Chr21:43063958 [GRCh38]
Chr21:44484068 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000071.3(CBS):c.362G>A (p.Arg121His) single nucleotide variant Classic homocystinuria [RCV000169322]|Familial thoracic aortic aneurysm and aortic dissection [RCV002453568]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002228611]|Homocystinuria [RCV001192720] Chr21:43066332 [GRCh38]
Chr21:44486442 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
NM_000071.3(CBS):c.233C>G (p.Pro78Arg) single nucleotide variant Classic homocystinuria [RCV000169367]|Familial thoracic aortic aneurysm and aortic dissection [RCV002444679]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002515196]|not specified [RCV003226232] Chr21:43068592 [GRCh38]
Chr21:44488702 [GRCh37]
Chr21:21q22.3		 likely pathogenic|likely benign|uncertain significance
NM_000071.3(CBS):c.306G>C (p.Lys102Asn) single nucleotide variant Classic homocystinuria [RCV000169368]|Familial thoracic aortic aneurysm and aortic dissection [RCV002444680]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002515197]|not specified [RCV003226233] Chr21:43068519 [GRCh38]
Chr21:44488629 [GRCh37]
Chr21:21q22.3		 likely pathogenic|uncertain significance
NM_000071.3(CBS):c.1358+1G>A single nucleotide variant Classic homocystinuria [RCV000169487]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002228614] Chr21:43058833 [GRCh38]
Chr21:44478943 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
NM_000071.3(CBS):c.1316G>A (p.Arg439Gln) single nucleotide variant Classic homocystinuria [RCV000169494]|Familial thoracic aortic aneurysm and aortic dissection [RCV003298197]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV003153461]|not provided [RCV000587586]|not specified [RCV003155100] Chr21:43058876 [GRCh38]
Chr21:44478986 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000071.3(CBS):c.302T>C (p.Leu101Pro) single nucleotide variant CBS-related disorder [RCV004754328]|Classic homocystinuria [RCV000169617]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002228615]|Homocystinuria [RCV001251397] Chr21:43068523 [GRCh38]
Chr21:44488633 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
NM_000071.3(CBS):c.536_553del (p.Asp179_Leu184del) deletion Classic homocystinuria [RCV000675172]|Familial thoracic aortic aneurysm and aortic dissection [RCV004020154]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002228797]|not provided [RCV000413538] Chr21:43065500..43065517 [GRCh38]
Chr21:44485610..44485627 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000071.3(CBS):c.2T>C (p.Met1Thr) single nucleotide variant HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV003597965]|not provided [RCV000176975] Chr21:43072192 [GRCh38]
Chr21:44492302 [GRCh37]
Chr21:21q22.3		 pathogenic|uncertain significance
NM_000071.3(CBS):c.362G>T (p.Arg121Leu) single nucleotide variant Classic homocystinuria [RCV000190373]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV001857669] Chr21:43066332 [GRCh38]
Chr21:44486442 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic|not provided
NM_000071.3(CBS):c.1632C>T (p.Ala544=) single nucleotide variant Classic homocystinuria [RCV002478679]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315522]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002229024]|not provided [RCV004703465]|not specified [RCV000200199] Chr21:43053904 [GRCh38]
Chr21:44474014 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_000071.3(CBS):c.5C>T (p.Pro2Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002354543]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002517994]|not provided [RCV002291590] Chr21:43072189 [GRCh38]
Chr21:44492299 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_000071.3(CBS):c.1411G>A (p.Gly471Arg) single nucleotide variant Classic homocystinuria [RCV000764258]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002229031]|not provided [RCV000200328]|not specified [RCV003987441] Chr21:43058201 [GRCh38]
Chr21:44478311 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_000071.3(CBS):c.1643G>A (p.Arg548Gln) single nucleotide variant CBS-related disorder [RCV003955179]|Classic homocystinuria [RCV000227198]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310760]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002229440]|not provided [RCV001312008]|not specified [RCV003987439] Chr21:43053893 [GRCh38]
Chr21:44474003 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000071.3(CBS):c.1479G>A (p.Thr493=) single nucleotide variant Classic homocystinuria [RCV000471233]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310757]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002229438]|not provided [RCV001726039]|not specified [RCV000196475] Chr21:43056876 [GRCh38]
Chr21:44476986 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000071.3(CBS):c.400G>A (p.Gly134Arg) single nucleotide variant Classic homocystinuria [RCV000469139]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002517171]|not provided [RCV000196511] Chr21:43066294 [GRCh38]
Chr21:44486404 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic|uncertain significance
NM_000071.3(CBS):c.*27C>T single nucleotide variant not specified [RCV000196581] Chr21:43053853 [GRCh38]
Chr21:44473963 [GRCh37]
Chr21:21q22.3		 benign
NM_000071.2(CBS):c.1359-30C>T single nucleotide variant not specified [RCV000196643] Chr21:43058283 [GRCh38]
Chr21:43058283..43058284 [GRCh38]
Chr21:44478393 [GRCh37]
Chr21:44478393..44478394 [GRCh37]
Chr21:21q22.3		 benign
NM_000071.3(CBS):c.736+2T>G single nucleotide variant HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV002517165]|not provided [RCV000196686]</