| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.720 | CausalMutation | CLINVAR | Identification of Novel ARSA Mutations in Chinese Patients with Metachromatic Leukodystrophy. | 30057904 | 2018 |
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|
T | 0.720 | CausalMutation | CLINVAR | Biochemical and Genetic Analysis of Seven Korean Individuals With Suspected Metachromatic Leukodystrophy. | 26131420 | 2015 |
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A | 0.720 | CausalMutation | CLINVAR | Late infantile metachromatic leukodystrophy: Clinical manifestations of five Taiwanese patients and Genetic features in Asia. | 26553228 | 2015 |
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|
T | 0.720 | CausalMutation | CLINVAR | Adult-type metachromatic leukodystrophy with compound heterozygous ARSA mutations: a case report and phenotypic comparison with a previously reported case. | 21265945 | 2011 |
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T | 0.720 | CausalMutation | CLINVAR | Identification of a novel splicing mutation in the ARSA gene in a patient with late-infantile form of metachromatic leukodystrophy. | 20890085 | 2010 |
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|
T | 0.720 | CausalMutation | CLINVAR | ARSA gene mutations in five Chinese metachromatic leukodystrophy patients. | 17560502 | 2007 |
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|
T | 0.720 | CausalMutation | CLINVAR | Adult-type metachromatic leukodystrophy with a compound heterozygote mutation showing character change and dementia. | 10459747 | 1999 |
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|
T | 0.720 | CausalMutation | CLINVAR | Prevalence of arylsulphatase A mutations in 11 Japanese patients with metachromatic leukodystrophy: identification of two novel mutations. | 9819708 | 1998 |
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T | 0.720 | CausalMutation | CLINVAR | Molecular characteristics in Japanese patients with lipidosis: novel mutations in metachromatic leukodystrophy and Gaucher disease. | 8455580 | 1993 |
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T | 0.720 | CausalMutation | CLINVAR | In a transient expression study, COS cells transfected with the mutant cDNA carrying 99Gly----Asp did not show an increase of ASA activity, which confirms that the mutation is a cause of adult-type MLD. | 1673291 | 1991 |