Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs148092995
rs148092995
T 0.800 GeneticVariation CLINVAR Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells. 28762252

2017

dbSNP: rs199476382
rs199476382
T 0.800 GeneticVariation CLINVAR Subacute demyelinating peripheral neuropathy as a novel presentation of late infantile metachromatic leukodystrophy. 28667691

2017

dbSNP: rs74315471
rs74315471
T 0.800 GeneticVariation CLINVAR Four novel ARSA gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations. 28670130

2017

dbSNP: rs148092995
rs148092995
T 0.800 GeneticVariation CLINVAR Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy. 26462614

2016

dbSNP: rs199476366
rs199476366
T 0.800 GeneticVariation CLINVAR Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy. 26462614

2016

dbSNP: rs74315459
rs74315459
T 0.800 GeneticVariation CLINVAR Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy. 26462614

2016

dbSNP: rs148092995
rs148092995
T 0.800 GeneticVariation CLINVAR Genotypic characterization of Brazilian patients with infantile and juvenile forms of metachromatic leukodystrophy. 25965562

2015

dbSNP: rs199476366
rs199476366
T 0.800 GeneticVariation CLINVAR Genotypic characterization of Brazilian patients with infantile and juvenile forms of metachromatic leukodystrophy. 25965562

2015

dbSNP: rs74315459
rs74315459
T 0.800 GeneticVariation CLINVAR Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy. 24001781

2013

dbSNP: rs199476366
rs199476366
T 0.800 GeneticVariation CLINVAR Cerebral gray and white matter changes and clinical course in metachromatic leukodystrophy. 22993277

2012

dbSNP: rs199476382
rs199476382
T 0.800 GeneticVariation CLINVAR Molecular and structural analysis of metachromatic leukodystrophy patients in Indian population. 21167507

2011

dbSNP: rs74315471
rs74315471
T 0.800 GeneticVariation CLINVAR Molecular and structural analysis of metachromatic leukodystrophy patients in Indian population. 21167507

2011

dbSNP: rs74315480
rs74315480
A 0.800 GeneticVariation CLINVAR Molecular and structural analysis of metachromatic leukodystrophy patients in Indian population. 21167507

2011

dbSNP: rs74315480
rs74315480
A 0.800 GeneticVariation CLINVAR Further sequence analysis of the ARSA gene performed on DNA samples of Polish MLD patients with unidentified alleles revealed eight rare mutations on 10 alleles: p.R390W, p.E382K, p.R390Q, p.R288C, p.H397Y, p.F247S, p.D335V and g.561_562insC, responsible together for 12% of the examined alleles. 20339381

2010

dbSNP: rs199476382
rs199476382
T 0.800 GeneticVariation CLINVAR Metachromatic leukodystrophy - mutation analysis provides further evidence of genotype-phenotype correlation. 18786133

2008

dbSNP: rs74315480
rs74315480
A 0.800 GeneticVariation CLINVAR Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles. 18693274

2008

dbSNP: rs74315483
rs74315483
T 0.800 GeneticVariation CLINVAR Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles. 18693274

2008

dbSNP: rs74315483
rs74315483
T 0.800 GeneticVariation CLINVAR Metachromatic leukodystrophy - mutation analysis provides further evidence of genotype-phenotype correlation. 18786133

2008

dbSNP: rs199476382
rs199476382
T 0.800 GeneticVariation CLINVAR Understanding mutations and protein stability through tripeptides. 16546179

2006

dbSNP: rs74315471
rs74315471
T 0.800 GeneticVariation CLINVAR Understanding mutations and protein stability through tripeptides. 16546179

2006

dbSNP: rs74315459
rs74315459
T 0.800 GeneticVariation CLINVAR Missense mutations as a cause of metachromatic leukodystrophy. Degradation of arylsulfatase A in the endoplasmic reticulum. 15720392

2005

dbSNP: rs74315459
rs74315459
T 0.800 GeneticVariation CLINVAR Novel mutations associated with metachromatic leukodystrophy: phenotype and expression studies in nine Czech and Slovak patients. 15326627

2004

dbSNP: rs148092995
rs148092995
T 0.800 GeneticVariation CLINVAR Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD). 14517960

2003

dbSNP: rs74315483
rs74315483
T 0.800 GeneticVariation CLINVAR We identified a late infantile metachromatic leukodystrophy patient carrying on one allele the new E253K mutation and the known T391S polymorphism, and on the other allele the common P426L mutation, usually associated with the adult or juvenile form of the disease, and the N350S and *96A>G pseudodeficiency mutations. 11941485

2002

dbSNP: rs199476366
rs199476366
T 0.800 GeneticVariation CLINVAR Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A gene. 9090526

1997