single nucleotide variant | NM_000051.4(ATM):c.4303A>T (p.Lys1435Ter) | ATM | Pathogenic | 11 | 108160395 | 108160395 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA382531617 |
single nucleotide variant | NM_000051.4(ATM):c.5497-2A>C | ATM | Pathogenic/Likely pathogenic | 11 | 108175400 | 108175400 | A | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA382545605 |
Indel | NM_000051.4(ATM):c.6013delinsAA (p.Leu2005fs) | ATM | Pathogenic/Likely pathogenic | 11 | 108186556 | 108186556 | C | AA | criteria provided, multiple submitters, no conflicts | ClinGen:CA658656175 |
single nucleotide variant | NM_000051.4(ATM):c.6327G>A (p.Trp2109Ter) | ATM | Pathogenic | 11 | 108188228 | 108188228 | G | A | criteria provided, single submitter | ClinGen:CA382552243 |
single nucleotide variant | NM_000051.4(ATM):c.6490G>T (p.Glu2164Ter) | ATM | Pathogenic/Likely pathogenic | 11 | 108192065 | 108192065 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA382554013 |
single nucleotide variant | NM_000051.4(ATM):c.7865C>T (p.Ala2622Val) | ATM | Pathogenic/Likely pathogenic | 11 | 108203565 | 108203565 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA382561402 |
single nucleotide variant | NM_000051.4(ATM):c.8152-1G>A | ATM | Pathogenic/Likely pathogenic | 11 | 108206571 | 108206571 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA382562325 |
Deletion | NM_000051.4(ATM):c.8585-13_8598del | ATM | Pathogenic/Likely pathogenic | 11 | 108217991 | 108218017 | TTTCTTTTTTCTCCAGTTGGTTACATAC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA658656263 |
single nucleotide variant | NM_000051.4(ATM):c.8793T>A (p.Cys2931Ter) | ATM | Pathogenic/Likely pathogenic | 11 | 108225544 | 108225544 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA382525570 |
Deletion | NC_000011.9:g.(?_108150212)_(108216641_?)del | ATM | Pathogenic | 11 | 108150212 | 108216641 | na | na | criteria provided, single submitter | - |