Gene: ABCD1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs128624223
rs128624223
ABCD1
T 0.810 CausalMutation CLINVAR

dbSNP: rs398123102
rs398123102
ABCD1
A 0.810 CausalMutation CLINVAR X-linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females. 15811009

2005
dbSNP: rs398123105
rs398123105
ABCD1
T 0.810 CausalMutation CLINVAR Except for two mutations (delAG1801 and P560L) observed four times each, nearly every ALD family has a different mutation. 8651290

1996
dbSNP: rs398123105
rs398123105
ABCD1
T 0.810 CausalMutation CLINVAR ABCD1 mutations and phenotype distribution in Chinese patients with X-linked adrenoleukodystrophy. 23566833

2013
dbSNP: rs398123105
rs398123105
ABCD1
T 0.810 CausalMutation CLINVAR X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism. 21700483

2012
dbSNP: rs398123105
rs398123105
ABCD1
T 0.810 CausalMutation CLINVAR Clinical and genetic aspects in twelve Korean patients with adrenomyeloneuropathy. 24719134

2014
dbSNP: rs398123105
rs398123105
ABCD1
T 0.810 CausalMutation CLINVAR Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes. 20661612

2011
dbSNP: rs398123105
rs398123105
ABCD1
T 0.810 CausalMutation CLINVAR Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes. 7717396

1995
dbSNP: rs1057517954
rs1057517954
ABCD1 ; BCAP31
A 0.800 GeneticVariation CLINVAR A Korean boy with atypical X-linked adrenoleukodystrophy confirmed by an unpublished mutation of ABCD1. 25324868

2014
dbSNP: rs1057517954
rs1057517954
ABCD1 ; BCAP31
A 0.800 GeneticVariation CLINVAR Two novel mutations in the adrenoleukodystrophy gene in two unrelated Japanese families and the long-term effect of bone marrow transplantation. 10980309

2000
dbSNP: rs1057517954
rs1057517954
ABCD1 ; BCAP31
A 0.800 GeneticVariation CLINVAR Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein. 7825602

1995
dbSNP: rs1057517954
rs1057517954
ABCD1 ; BCAP31
A 0.800 GeneticVariation CLINVAR Adult-onset cerebello-brainstem dominant form of X-linked adrenoleukodystrophy presenting as multiple system atrophy: case report and literature review. 26227820

2016
dbSNP: rs1064793877
rs1064793877
ABCD1
T 0.800 CausalMutation CLINVAR

dbSNP: rs11146842
rs11146842
ABCD1
A 0.800 CausalMutation CLINVAR X-linked adrenoleukodystrophy: diagnostic and follow-up system in Japan. 21068741

2011
dbSNP: rs11146842
rs11146842
ABCD1
A 0.800 CausalMutation CLINVAR Suppression of peroxisomal membrane protein defects by peroxisomal ATP binding cassette (ABC) proteins. 9425230

1998
dbSNP: rs11146842
rs11146842
ABCD1
A 0.800 CausalMutation CLINVAR Eight novel mutations in the ABCD1 gene and clinical characteristics of 25 Chinese patients with X-linked adrenoleukodystrophy. 26454440

2015
dbSNP: rs11146842
rs11146842
ABCD1
A 0.800 CausalMutation CLINVAR X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism. 21700483

2012
dbSNP: rs11146842
rs11146842
ABCD1
A 0.800 CausalMutation CLINVAR Mutational analysis of patients with X-linked adrenoleukodystrophy. 7581394

1995
dbSNP: rs11146842
rs11146842
ABCD1
A 0.800 CausalMutation CLINVAR Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy. 15800013

2005
dbSNP: rs11146842
rs11146842
ABCD1
A 0.800 CausalMutation CLINVAR In the case of X-ALD fibroblasts from an ALD patient (R617H), the mutant ALDP was not detected in the cells, but appeared upon incubation with a proteasome inhibitor. 17542813

2007
dbSNP: rs11146842
rs11146842
ABCD1
A 0.800 CausalMutation CLINVAR Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene. 8040304

1994
dbSNP: rs11146842
rs11146842
ABCD1
A 0.800 CausalMutation CLINVAR Altered expression of ALDP in X-linked adrenoleukodystrophy. 7668254

1995
dbSNP: rs1131691743
rs1131691743
ABCD1 ; BCAP31
T 0.800 CausalMutation CLINVAR Adrenoleukodystrophy in Norway: high rate of de novo mutations and age-dependent penetrance. 23419472

2013
dbSNP: rs1131691743
rs1131691743
ABCD1 ; BCAP31
T 0.800 CausalMutation CLINVAR Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy. 8566952

1996
dbSNP: rs1131691916
rs1131691916
ABCD1 ; BCAP31
T 0.800 GeneticVariation CLINVAR X-linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females. 15811009

2005