rs398123105
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Clinical and genetic aspects in twelve Korean patients with adrenomyeloneuropathy.
|
24719134 |
2014 |
rs398123105
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
ABCD1 mutations and phenotype distribution in Chinese patients with X-linked adrenoleukodystrophy.
|
23566833 |
2013 |
rs398123105
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism.
|
21700483 |
2012 |
rs398123105
|
|
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 |
rs398123102
|
|
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 |
rs398123105
|
|
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 |
rs398123105
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes.
|
7717396 |
1995 |
rs128624223
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
rs398123106
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Guillain Barré Syndrome in a Child With X-Linked Adrenoleukodystrophy.
|
28503596 |
2019 |
rs1057517954
|
|
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 |
rs128624219
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
X-linked adrenoleukodystrophy in a 6-year-old boy initially presenting with psychiatric symptoms.
|
26388597 |
2016 |
rs128624224
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands.
|
27084228 |
2016 |
rs1557054776
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Pathogenicity of novel ABCD1 variants: The need for biochemical testing in the era of advanced genetics.
|
27067449 |
2016 |
rs11146842
|
|
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 |
rs1557052302
|
|
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 |
rs1057517954
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
A Korean boy with atypical X-linked adrenoleukodystrophy confirmed by an unpublished mutation of ABCD1.
|
25324868 |
2014 |
rs1557052390
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
X-linked adrenoleukodystrophy: are signs of hypogonadism always due to testicular failure?
|
24722136 |
2014 |
rs1557054776
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
X-linked adrenoleukodystrophy in women: a cross-sectional cohort study.
|
24480483 |
2014 |
rs1557054776
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Molecular analysis in X-linked adrenoleukodystrophy patients: identification of a novel mutation.
|
24788897 |
2014 |
rs398123106
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
An under-recognised cause of spastic paraparesis in middle-aged women.
|
24154795 |
2014 |
rs886044777
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Clinical and genetic aspects in twelve Korean patients with adrenomyeloneuropathy.
|
24719134 |
2014 |
rs886044777
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
X-linked adrenoleukodystrophy in women: a cross-sectional cohort study.
|
24480483 |
2014 |
rs1131691743
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Adrenoleukodystrophy in Norway: high rate of de novo mutations and age-dependent penetrance.
|
23419472 |
2013 |
rs128624219
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Adrenoleukodystrophy in Norway: high rate of de novo mutations and age-dependent penetrance.
|
23419472 |
2013 |
rs1557054873
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
ABCD1 mutations and phenotype distribution in Chinese patients with X-linked adrenoleukodystrophy.
|
23566833 |
2013 |