Gene: ARSB ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118203942
rs118203942
ARSB
T 0.800 CausalMutation CLINVAR

dbSNP: rs118203944
rs118203944
ARSB
G 0.800 CausalMutation CLINVAR

dbSNP: rs1554032099
rs1554032099
ARSB
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1554032099
rs1554032099
ARSB
A 0.700 CausalMutation CLINVAR

dbSNP: rs1554032122
rs1554032122
ARSB
G 0.700 CausalMutation CLINVAR

dbSNP: rs1554032160
rs1554032160
ARSB
GGTGCGGC 0.700 GeneticVariation CLINVAR

dbSNP: rs1554032196
rs1554032196
ARSB
CT 0.700 CausalMutation CLINVAR

dbSNP: rs1554032220
rs1554032220
ARSB
G 0.700 CausalMutation CLINVAR

dbSNP: rs431905496
rs431905496
ARSB
C 0.700 CausalMutation CLINVAR

dbSNP: rs886039914
rs886039914
ARSB
C 0.700 GeneticVariation CLINVAR

dbSNP: rs118203939
rs118203939
ARSB
G 0.800 GeneticVariation CLINVAR Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity. 1550123

1992
dbSNP: rs431905493
rs431905493
ARSB
A 0.700 CausalMutation CLINVAR An N-acetylgalactosamine-4-sulfatase mutation (delta G238) results in a severe Maroteaux-Lamy phenotype. 1301949

1992
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 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 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: rs1554079320
rs1554079320
ARSB
G 0.800 CausalMutation CLINVAR Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes. 8116615

1994
dbSNP: rs1554087423
rs1554087423
ARSB
G 0.800 GeneticVariation CLINVAR Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes. 8116615

1994
dbSNP: rs746206847
rs746206847
ARSB
T 0.800 GeneticVariation CLINVAR Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes. 8116615

1994
dbSNP: rs1255777033
rs1255777033
ARSB
A 0.700 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: rs1554069660
rs1554069660
ARSB
A 0.700 CausalMutation CLINVAR Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes. 8116615

1994
dbSNP: rs1554069786
rs1554069786
ARSB
GA 0.700 GeneticVariation CLINVAR Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes. 8116615

1994
dbSNP: rs749989641
rs749989641
ARSB
C 0.700 GeneticVariation CLINVAR Two site-directed mutations abrogate enzyme activity but have different effects on the conformation and cellular content of the N-acetylgalactosamine 4-sulphatase protein. 7733883

1995
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: rs118203942
rs118203942
ARSB
T 0.800 GeneticVariation 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: rs774358117
rs774358117
ARSB
G 0.800 GeneticVariation CLINVAR Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients. 8651289

1996