Duplication | NM_000051.4(ATM):c.4143dup (p.Pro1382fs) | ATM | Pathogenic | 11 | 108159733 | 108159734 | A | AT | criteria provided, multiple submitters, no conflicts | ClinGen:CA298026 |
Duplication | NM_000051.4(ATM):c.4625dup (p.Leu1542fs) | ATM | Pathogenic | 11 | 108164051 | 108164052 | G | GT | criteria provided, multiple submitters, no conflicts | ClinGen:CA298018 |
Insertion | NM_000051.4(ATM):c.5201_5202insAT (p.Thr1735fs) | ATM | Pathogenic | 11 | 108172397 | 108172398 | G | GTA | criteria provided, single submitter | ClinGen:CA298019 |
Deletion | NM_000051.4(ATM):c.5320-5_5320-2del | ATM | Pathogenic/Likely pathogenic | 11 | 108173575 | 108173578 | TTCTA | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA298027 |
single nucleotide variant | NM_000051.4(ATM):c.5890A>T (p.Lys1964Ter) | ATM | Pathogenic/Likely pathogenic | 11 | 108181014 | 108181014 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA298368 |
single nucleotide variant | NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys) | ATM | Pathogenic/Likely pathogenic | 11 | 108186638 | 108186638 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA298296 |
single nucleotide variant | NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys) | ATM | Pathogenic | 11 | 108196143 | 108196143 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA298317,UniProtKB:Q13315#VAR_010846 |
single nucleotide variant | NM_000051.4(ATM):c.7997C>A (p.Thr2666Asn) | ATM | Pathogenic/Likely pathogenic | 11 | 108204682 | 108204682 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA298325 |
single nucleotide variant | NM_000051.4(ATM):c.8146G>T (p.Val2716Phe) | ATM | Pathogenic/Likely pathogenic | 11 | 108205831 | 108205831 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA298328 |
Deletion | NM_000051.4(ATM):c.8264_8268del (p.Tyr2755fs) | ATM | Pathogenic | 11 | 108206684 | 108206688 | TATAAG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA276029 |