• Mutation; HGNC; HGNC:795; ATM; Simple; c.5319+2T>C (IVS37+2T>C) (c.5178_5319del142); ClinVar=VCV000479006; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=8845835; PubMed=17124347).
  
• Mutation; HGNC; HGNC:795; ATM; Simple; p.Arg1898Ter (c.5692C>T); ClinVar=VCV000482526; Zygosity=Heterozygous (PubMed=8845835; PubMed=17124347).
  

PubMed=8845835; DOI=10.1093/hmg/5.4.433
Gilad S., Khosravi R., Shkedy D., Uziel T., Ziv Y., Savitsky K., Rotman G., Smith S., Chessa L., Jorgensen T.J., Harnik R., Frydman M., Sanal O., Portnoi S., Goldwicz Z., Jaspers N.G.J., Gatti R.A., Lenoir G.M., Lavin M.F., Tatsumi K., Wegner R.-D., Shiloh Y., Bar-Shira A.
Predominance of null mutations in ataxia-telangiectasia.
Hum. Mol. Genet. 5:433-439(1996)

PubMed=17124347; DOI=10.1155/2006/740493; PMCID=PMC3862285
Magliozzi M., Piane M., Torrente I., Sinibaldi L., Rizzo G., Savio C., Lulli P., De Luca A., Dallapiccola B., Chessa L.
DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations.
Dis. Markers 22:257-264(2006)