List of variants in gene combination ATM, C11orf65 reported as pathogenic for Malignant tumor of breast

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys)	rs564652222	0.00001
NM_000051.4(ATM):c.6371_6372insG (p.Tyr2124Ter)	rs2085078278
NM_000051.4(ATM):c.6916_6917del (p.Leu2307fs)	rs878853535
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del)	rs587776547
NM_000051.4(ATM):c.7788G>A (p.Glu2596=)	rs587780639
NM_000051.4(ATM):c.8288del (p.Arg2763fs)	rs886039630
NM_000051.4(ATM):c.8565_8566delinsAA (p.Ser2855_Val2856delinsArgIle)	rs587781353
NM_000051.4(ATM):c.8655dup (p.Val2886fs)	rs753961188
NM_001330368.2(C11orf65):c.640+16147_640+22966del

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.