| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | CausalMutation | CLINVAR | Multigene panel analysis identified germline mutations of DNA repair genes in breast and ovarian cancer. | 26436112 | 2015 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Ataxia telangiectasia presenting as dopa-responsive cervical dystonia. | 23946315 | 2013 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Molecular defects in Moroccan patients with ataxia-telangiectasia. | 23322442 | 2013 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Rare variants in the ATM gene and risk of breast cancer. | 21787400 | 2011 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Premature ageing of the immune system underlies immunodeficiency in ataxia telangiectasia. | 21459046 | 2011 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate. | 12815592 | 2003 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer. | 9463314 | 1998 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations. | 9443866 | 1998 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Mutations of the ATM gene detected in Japanese ataxia-telangiectasia patients: possible preponderance of the two founder mutations 4612del165 and 7883del5. | 9600235 | 1998 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy. | 9711876 | 1998 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Predominance of null mutations in ataxia-telangiectasia. | 8845835 | 1996 |