single nucleotide variant | NM_000051.4(ATM):c.1442T>G (p.Leu481Ter) | ATM | Pathogenic | 11 | 108121634 | 108121634 | T | G | reviewed by expert panel | ClinGen:CA382534080 |
Deletion | NM_000051.4(ATM):c.1839_1842del (p.Leu615_Thr616insTer) | ATM | Pathogenic | 11 | 108123578 | 108123581 | TGTGA | T | criteria provided, single submitter | ClinGen:CA658656174 |
single nucleotide variant | NM_000051.4(ATM):c.1898+1G>T | ATM | Pathogenic/Likely pathogenic | 11 | 108123640 | 108123640 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA382536128 |
single nucleotide variant | NM_000051.4(ATM):c.2193C>A (p.Tyr731Ter) | ATM | Pathogenic | 11 | 108127010 | 108127010 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA382538927 |
Deletion | NM_000051.4(ATM):c.2922-50_2938del | ATM | Pathogenic | 11 | 108141927 | 108141993 | ATGTGTTCTGTTAAGCTTATAAAGTTGAACTTTTTTTTTTTTTTTACCACAGCAATGTGTGTTCTTTG | A | criteria provided, single submitter | ClinGen:CA658656157 |
Deletion | NM_000051.4(ATM):c.3627del (p.Phe1209fs) | ATM | Pathogenic | 11 | 108153485 | 108153485 | CT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA169922 |
single nucleotide variant | NM_000051.4(ATM):c.3673C>T (p.Gln1225Ter) | ATM | Pathogenic | 11 | 108153533 | 108153533 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA382523231 |
Deletion | NM_000051.4(ATM):c.3747-3_3751del | ATM | Likely pathogenic | 11 | 108154949 | 108154956 | TTTTAGATC | T | criteria provided, single submitter | ClinGen:CA658656246 |
Deletion | NM_000051.4(ATM):c.4087del (p.Thr1363fs) | ATM | Pathogenic | 11 | 108158420 | 108158420 | CA | C | criteria provided, single submitter | ClinGen:CA658656282 |
single nucleotide variant | NM_000051.4(ATM):c.4609C>T (p.Gln1537Ter) | ATM | Pathogenic | 11 | 108163518 | 108163518 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA382534097 |