Gene: ABCD1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1131691916
rs1131691916
ABCD1 ; BCAP31
T 0.800 GeneticVariation CLINVAR Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described. 10737980

2000
dbSNP: rs128624213
rs128624213
ABCD1 ; BCAP31
A 0.800 CausalMutation CLINVAR

dbSNP: rs128624214
rs128624214
ABCD1
G 0.800 CausalMutation CLINVAR

dbSNP: rs128624215
rs128624215
ABCD1
T 0.800 GeneticVariation CLINVAR Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms. 22280810

2012
dbSNP: rs128624215
rs128624215
ABCD1
G 0.800 GeneticVariation CLINVAR Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy. 8566952

1996
dbSNP: rs128624215
rs128624215
ABCD1
G 0.800 GeneticVariation CLINVAR Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein. 7825602

1995
dbSNP: rs128624215
rs128624215
ABCD1
G 0.800 GeneticVariation CLINVAR Mutations, clinical findings and survival estimates in South American patients with X-linked adrenoleukodystrophy. 22479560

2012
dbSNP: rs128624215
rs128624215
ABCD1
G 0.800 CausalMutation CLINVAR

dbSNP: rs128624215
rs128624215
ABCD1
G 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
dbSNP: rs128624216
rs128624216
ABCD1 ; BCAP31
G 0.800 CausalMutation CLINVAR

dbSNP: rs128624217
rs128624217
ABCD1 ; BCAP31
G 0.800 CausalMutation CLINVAR

dbSNP: rs128624218
rs128624218
ABCD1 ; BCAP31
A 0.800 CausalMutation CLINVAR Genomic profiling identifies novel mutations and SNPs in ABCD1 gene: a molecular, biochemical and clinical analysis of X-ALD cases in India. 21966424

2011
dbSNP: rs128624218
rs128624218
ABCD1 ; BCAP31
A 0.800 CausalMutation CLINVAR X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism. 21700483

2012
dbSNP: rs128624218
rs128624218
ABCD1 ; BCAP31
A 0.800 CausalMutation CLINVAR Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD). 7849723

1994
dbSNP: rs128624218
rs128624218
ABCD1 ; BCAP31
A 0.800 CausalMutation CLINVAR Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein. 7825602

1995
dbSNP: rs128624218
rs128624218
ABCD1 ; BCAP31
A 0.800 CausalMutation CLINVAR [X-linked adrenoleukodystrophy ABCD1 gene mutation analysis in China]. 14767898

2004
dbSNP: rs128624218
rs128624218
ABCD1 ; BCAP31
A 0.800 CausalMutation CLINVAR Clinical and genetic aspects of X-linked adrenoleukodystrophy. 9553942

1998
dbSNP: rs128624218
rs128624218
ABCD1 ; BCAP31
A 0.800 CausalMutation CLINVAR Mutations in the adrenoleukodystrophy gene. 9195223

1997
dbSNP: rs128624218
rs128624218
ABCD1 ; BCAP31
A 0.800 CausalMutation CLINVAR Three ABCD1 gene missense mutations were detected in three unrelated Chinese families with X-linked adrenoleukodystrophy, one of which, the mutation (P534R), is novel in Chinese with ALD, and the other two G266R and R617G mutations, have been reported outside China. 15192815

2004
dbSNP: rs128624218
rs128624218
ABCD1 ; BCAP31
A 0.800 CausalMutation CLINVAR Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy. 15800013

2005
dbSNP: rs128624218
rs128624218
ABCD1 ; BCAP31
A 0.800 CausalMutation CLINVAR X-linked adrenoleukodystrophy: diagnostic and follow-up system in Japan. 21068741

2011
dbSNP: rs128624218
rs128624218
ABCD1 ; BCAP31
A 0.800 CausalMutation CLINVAR [Prenatal diagnosis of X-linked adrenoleukodystrophy]. 17285533

2007
dbSNP: rs128624218
rs128624218
ABCD1 ; BCAP31
A 0.800 CausalMutation CLINVAR Novel missense and frameshift mutations in the adrenoleukodystrophy gene. 9088111

1996
dbSNP: rs128624218
rs128624218
ABCD1 ; BCAP31
A 0.800 CausalMutation CLINVAR Mutational analysis and genotype-phenotype correlation of 29 unrelated Japanese patients with X-linked adrenoleukodystrophy. 10190819

1999
dbSNP: rs128624218
rs128624218
ABCD1 ; BCAP31
A 0.800 CausalMutation CLINVAR Molecular characterization of 21 X-ALD Portuguese families: identification of eight novel mutations in the ABCD1 gene. 12175782

2002