Gene: ARSB ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118203943
rs118203943
ARSB
C 0.830 CausalMutation CLINVAR The majority of MPS VI patients reported so far as relatively attenuated presented with an essentially osteoarticular phenotype associated with the p.Y210C mutation. 24221504

2014
dbSNP: rs118203943
rs118203943
ARSB
C 0.830 CausalMutation CLINVAR Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe. 24373060

2014
dbSNP: rs118203943
rs118203943
ARSB
C 0.830 CausalMutation CLINVAR Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase. 23557332

2013
dbSNP: rs118203943
rs118203943
ARSB
C 0.830 CausalMutation CLINVAR Spondyloepiphyseal dysplasias and bilateral legg-calvé-perthes disease: diagnostic considerations for mucopolysaccharidoses. 23657977

2013
dbSNP: rs118203943
rs118203943
ARSB
C 0.830 CausalMutation CLINVAR Clinical characteristics of adults with slowly progressing mucopolysaccharidosis VI: a case series. 22441840

2012
dbSNP: rs118203943
rs118203943
ARSB
C 0.830 CausalMutation CLINVAR Molecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and Estonia. 22133300

2012
dbSNP: rs118203943
rs118203943
ARSB
C 0.830 CausalMutation CLINVAR Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) with a predominantly cardiac phenotype. 21917494

2011
dbSNP: rs118203943
rs118203943
ARSB
C 0.830 CausalMutation CLINVAR Attenuated mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) due to homozygosity for the p.Y210C mutation in the ARSB gene. 21514195

2011
dbSNP: rs118203943
rs118203943
ARSB
C 0.830 CausalMutation CLINVAR Difficulties in diagnosing slowly progressive mucopolysaccharidosis VI: A case series. 21791832

2010
dbSNP: rs118203943
rs118203943
ARSB
C 0.830 CausalMutation CLINVAR Mutational analysis of 105 mucopolysaccharidosis type VI patients. 17458871

2007
dbSNP: rs118203943
rs118203943
ARSB
C 0.830 CausalMutation CLINVAR Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy. 14974081

2004
dbSNP: rs118203943
rs118203943
ARSB
C 0.830 CausalMutation CLINVAR [Identification of mutations in the arylsulfatase B gene in Russian mucopolysaccharidosis type VI patients]. 10923267

2000
dbSNP: rs118203943
rs118203943
ARSB
C 0.830 CausalMutation CLINVAR Three of the five mutations (R95Q, Y210C, and H393P) were observed in >1 of 25 unrelated MPS-VI patients; however, the mutations were not found in 20 control individuals. 8651289

1996
dbSNP: rs991104525
rs991104525
ARSB
A 0.810 CausalMutation CLINVAR Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe. 24373060

2014
dbSNP: rs991104525
rs991104525
ARSB
A 0.810 CausalMutation CLINVAR Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature. 24221504

2014
dbSNP: rs991104525
rs991104525
ARSB
A 0.810 CausalMutation CLINVAR Molecular characteristics of patients with glycosaminoglycan storage disorders in Russia. 24875751

2014
dbSNP: rs991104525
rs991104525
ARSB
A 0.810 CausalMutation CLINVAR Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase. 23557332

2013
dbSNP: rs991104525
rs991104525
ARSB
A 0.810 CausalMutation CLINVAR Mucopolysaccharidosis type VI: a predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene. 23633437

2013
dbSNP: rs991104525
rs991104525
ARSB
A 0.810 CausalMutation CLINVAR High prevalence of p.R152W mutation in Poland, Belarus and Baltic States indicates a possible founder effect and suggests that screening for this mutation may be appropriate in MPS VI patients from this region. 22133300

2012
dbSNP: rs991104525
rs991104525
ARSB
A 0.810 CausalMutation CLINVAR Clinical characteristics of adults with slowly progressing mucopolysaccharidosis VI: a case series. 22441840

2012
dbSNP: rs991104525
rs991104525
ARSB
A 0.810 CausalMutation CLINVAR Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) with a predominantly cardiac phenotype. 21917494

2011
dbSNP: rs991104525
rs991104525
ARSB
A 0.810 CausalMutation CLINVAR Mutational analysis of 105 mucopolysaccharidosis type VI patients. 17458871

2007
dbSNP: rs991104525
rs991104525
ARSB
A 0.810 CausalMutation CLINVAR [Identification of mutations in the arylsulfatase B gene in Russian mucopolysaccharidosis type VI patients]. 10923267

2000
dbSNP: rs991104525
rs991104525
ARSB
A 0.810 CausalMutation CLINVAR Four novel mutant alleles of the arylsulfatase B gene in two patients with intermediate form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). 8125475

1994
dbSNP: rs1196325597
rs1196325597
ARSB
T 0.800 GeneticVariation CLINVAR Novel Mutations, Including a Large Deletion in the ARSB Gene, Causing Mucopolysaccharidosis Type VI. 27797586

2017