Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338815
rs80338815
ARSA
T 0.700 CausalMutation CLINVAR Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy. 26462614

2016
dbSNP: rs80338815
rs80338815
ARSA
T 0.700 CausalMutation CLINVAR Molecular and structural analysis of metachromatic leukodystrophy patients in Indian population. 21167507

2011
dbSNP: rs80338815
rs80338815
ARSA
T 0.700 CausalMutation CLINVAR Metachromatic leukodystrophy - mutation analysis provides further evidence of genotype-phenotype correlation. 18786133

2008
dbSNP: rs80338815
rs80338815
ARSA
T 0.700 CausalMutation CLINVAR Molecular and phenotypic characteristics of metachromatic leukodystrophy patients from Poland. 15952986

2005
dbSNP: rs80338815
rs80338815
ARSA
T 0.700 CausalMutation CLINVAR Late-onset metachromatic leukodystrophy clinically presenting as isolated peripheral neuropathy: compound heterozygosity for the IVS2+1G-->A mutation and a newly identified missense mutation (Thr408Ile) in a Spanish family. 11456299

2001
dbSNP: rs80338815
rs80338815
ARSA
T 0.700 CausalMutation CLINVAR Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients. 10477432

1999
dbSNP: rs80338815
rs80338815
ARSA
T 0.700 CausalMutation CLINVAR Molecular genetic characterization of two metachromatic leukodystrophy patients who carry the T799G mutation and show different phenotypes; description of a novel null-type mutation. 9600244

1998
dbSNP: rs80338815
rs80338815
ARSA
T 0.700 CausalMutation CLINVAR Occurrence, distribution, and phenotype of arylsulfatase A mutations in patients with metachromatic leukodystrophy. 9096767

1997
dbSNP: rs80338815
rs80338815
ARSA
T 0.700 CausalMutation CLINVAR Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A gene. 9090526

1997
dbSNP: rs80338815
rs80338815
ARSA
T 0.700 CausalMutation CLINVAR Phenotype of arylsulfatase A-deficient mice: relationship to human metachromatic leukodystrophy. 8962139

1996
dbSNP: rs80338815
rs80338815
ARSA
T 0.700 CausalMutation CLINVAR Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area. 7825603

1995
dbSNP: rs80338815
rs80338815
ARSA
T 0.700 CausalMutation CLINVAR A single origin for the most frequent mutation causing late infantile metachromatic leucodystrophy. 7815434

1994
dbSNP: rs80338815
rs80338815
ARSA
T 0.700 CausalMutation CLINVAR Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain. 8095918

1993
dbSNP: rs80338815
rs80338815
ARSA
T 0.700 CausalMutation CLINVAR Molecular characteristics in Japanese patients with lipidosis: novel mutations in metachromatic leukodystrophy and Gaucher disease. 8455580

1993
dbSNP: rs80338815
rs80338815
ARSA
T 0.700 CausalMutation CLINVAR Molecular basis of different forms of metachromatic leukodystrophy. 1670590

1991