rs1060501713
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs121434219
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1398616877
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs147187700
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1555120997
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1555122941
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1555126163
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
rs1555126163
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Large genomic mutations within the ATM gene detected by MLPA, including a duplication of 41 kb from exon 4 to 20.
|
17910737 |
2008 |
rs1555127017
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1555137920
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1555137973
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1555143620
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1555143623
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1565499093
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1565557607
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs202206540
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Ataxia telangiectasia presenting as dopa-responsive cervical dystonia.
|
23946315 |
2013 |
rs202206540
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Novel ATM mutation in a German patient presenting as generalized dystonia without classical signs of ataxia-telangiectasia.
|
25572163 |
2015 |
rs202206540
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.
|
10330348 |
1999 |
rs267606668
|
|
GC |
0.700 |
GeneticVariation |
CLINVAR |
Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients.
|
10817650 |
2000 |
rs267606668
|
|
GC |
0.700 |
GeneticVariation |
CLINVAR |
Slow progression of ataxia-telangiectasia with double missense and in frame splice mutations.
|
15054841 |
2004 |
rs267606668
|
|
GC |
0.700 |
GeneticVariation |
CLINVAR |
Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity.
|
10873394 |
2000 |
rs267606668
|
|
GC |
0.700 |
GeneticVariation |
CLINVAR |
Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study.
|
22213089 |
2012 |
rs267606668
|
|
GC |
0.700 |
GeneticVariation |
CLINVAR |
A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia.
|
9521587 |
1998 |
rs267606668
|
|
GC |
0.700 |
GeneticVariation |
CLINVAR |
Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity.
|
23566627 |
2013 |
rs267606668
|
|
GC |
0.700 |
GeneticVariation |
CLINVAR |
Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia.
|
10980530 |
2000 |