Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555151854
rs1555151854
TTTCA 0.700 GeneticVariation CLINVAR

dbSNP: rs1555093289
rs1555093289
ATM
TTA 0.700 CausalMutation CLINVAR

dbSNP: rs786202418
rs786202418
TT 0.700 CausalMutation CLINVAR

dbSNP: rs1064795675
rs1064795675
TGT 0.700 CausalMutation CLINVAR

dbSNP: rs587776549
rs587776549
ATM
TGAT 0.700 CausalMutation CLINVAR Determining the frequency of pathogenic germline variants from exome sequencing in patients with castrate-resistant prostate cancer. 27084275

2016

dbSNP: rs587776549
rs587776549
ATM
TGAT 0.700 CausalMutation CLINVAR Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations. 9443866

1998

dbSNP: rs587776549
rs587776549
ATM
TGAT 0.700 CausalMutation CLINVAR Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia. 10980530

2000

dbSNP: rs587776549
rs587776549
ATM
TGAT 0.700 CausalMutation CLINVAR The role of ataxia-telangiectasia heterozygotes in familial breast cancer. 9537233

1998

dbSNP: rs587776549
rs587776549
ATM
TGAT 0.700 CausalMutation CLINVAR ATM mutations in cancer families. 8797579

1996

dbSNP: rs587776549
rs587776549
ATM
TGAT 0.700 CausalMutation CLINVAR Identical mutation in 55% of the ATM alleles in 11 Norwegian AT families: evidence for a founder effect. 9781027

1998

dbSNP: rs1555059513
rs1555059513
ATM
TG 0.700 CausalMutation CLINVAR

dbSNP: rs1555083198
rs1555083198
ATM
TG 0.700 CausalMutation CLINVAR

dbSNP: rs863224461
rs863224461
TCTCA 0.700 CausalMutation CLINVAR

dbSNP: rs1057516301
rs1057516301
ATM
TC 0.700 GeneticVariation CLINVAR

dbSNP: rs1459299108
rs1459299108
ATM
TC 0.700 CausalMutation CLINVAR

dbSNP: rs1555107356
rs1555107356
ATM
TC 0.700 CausalMutation CLINVAR Predominance of null mutations in ataxia-telangiectasia. 8845835

1996

dbSNP: rs1555105786
rs1555105786
ATM
TAG 0.700 GeneticVariation CLINVAR

dbSNP: rs886041340
rs886041340
ATM
TACAG 0.700 CausalMutation CLINVAR ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy. 9711876

1998

dbSNP: rs886041340
rs886041340
ATM
TACAG 0.700 CausalMutation CLINVAR Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays. 9872980

1998

dbSNP: rs1064792938
rs1064792938
ATM
TAAAATAAA 0.700 CausalMutation CLINVAR

dbSNP: rs1057516541
rs1057516541
ATM
TA 0.700 GeneticVariation CLINVAR Functional characterization connects individual patient mutations in ataxia telangiectasia mutated (ATM) with dysfunction of specific DNA double-strand break-repair signaling pathways. 21778326

2011

dbSNP: rs1057516541
rs1057516541
ATM
TA 0.700 CausalMutation CLINVAR

dbSNP: rs1478081526
rs1478081526
ATM
TA 0.700 GeneticVariation CLINVAR Six novel ATM mutations in Italian patients with classical ataxia-telangiectasia. 12655570

2003

dbSNP: rs1478081526
rs1478081526
ATM
TA 0.700 GeneticVariation CLINVAR A multi-gene panel beyond BRCA1/BRCA2 to identify new breast cancer-predisposing mutations by a picodroplet PCR followed by a next-generation sequencing strategy: a pilot study. 30482293

2019

dbSNP: rs1478081526
rs1478081526
ATM
TA 0.700 GeneticVariation CLINVAR DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations. 17124347

2006