Variants in gene ATM with conflicting interpretations "pathogenic" and "uncertain significance"

Submission 1 (pathogenic) minimum review status:		Submission 1 (pathogenic) method:
Submission 2 (uncertain significance) minimum review status:		Submission 2 (uncertain significance) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000051.4(ATM):c.3432G>A (p.Leu1144=)	rs1060501625	0.00001
NM_000051.4(ATM):c.3820C>T (p.Gln1274Ter)	rs1453429915	0.00001
NM_000051.4(ATM):c.4909+4C>T	rs587782125	0.00001
NM_000051.4(ATM):c.5228C>T (p.Thr1743Ile)	rs587779844	0.00001
NM_000051.4(ATM):c.1235+4_1235+5del	rs770033355
NM_000051.4(ATM):c.1464G>A (p.Trp488Ter)	rs377597949
NM_000051.4(ATM):c.2639-22_2639-20del	rs1064795554
NM_000051.4(ATM):c.3567del (p.Leu1189_Val1190insTer)	rs1555091431
NM_000051.4(ATM):c.4110-9C>G	rs730881367
NM_000051.4(ATM):c.4397_4398delinsCG (p.Arg1466Pro)	rs886038217
NM_000051.4(ATM):c.4432C>T (p.Gln1478Ter)	rs1368412801
NM_000051.4(ATM):c.4775A>G (p.Glu1592Gly)	rs1565463405
NM_000051.4(ATM):c.5177+5G>A	rs759373136
NM_000051.4(ATM):c.5675-7_5675-4del	rs1189695629
NM_000051.4(ATM):c.743G>T (p.Arg248Leu)	rs769166447
Single allele

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.