single nucleotide variant | NM_000051.4(ATM):c.8711A>G (p.Glu2904Gly) | ATM | Likely pathogenic | 11 | 108224532 | 108224532 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA194327,UniProtKB:Q13315#VAR_010889 |
single nucleotide variant | NM_000051.4(ATM):c.185+1G>A | ATM | Likely pathogenic | 11 | 108098616 | 108098616 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA349320 |
single nucleotide variant | NM_000051.4(ATM):c.3077+1G>A | ATM | Likely pathogenic | 11 | 108142134 | 108142134 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA350862 |
single nucleotide variant | NM_000051.4(ATM):c.3284+1G>A | ATM | Likely pathogenic | 11 | 108143580 | 108143580 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA350813 |
single nucleotide variant | NM_000051.4(ATM):c.3994-159A>G | ATM | Likely pathogenic | 11 | 108158168 | 108158168 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA349592 |
single nucleotide variant | NM_000051.4(ATM):c.6348-2A>G | ATM | Likely pathogenic | 11 | 108190679 | 108190679 | A | G | criteria provided, single submitter | ClinGen:CA348351 |
single nucleotide variant | NM_000051.4(ATM):c.3747-1G>A | ATM | Likely pathogenic | 11 | 108154953 | 108154953 | G | A | criteria provided, single submitter | ClinGen:CA16044129 |
single nucleotide variant | NM_000051.4(ATM):c.496+1G>A | ATM | Likely pathogenic | 11 | 108106562 | 108106562 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10578961 |
single nucleotide variant | NM_000051.4(ATM):c.1066-1G>A | ATM | Likely pathogenic | 11 | 108119659 | 108119659 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10578992 |
single nucleotide variant | NM_000051.4(ATM):c.3402+2T>C | ATM | Likely pathogenic | 11 | 108150337 | 108150337 | T | C | criteria provided, single submitter | ClinGen:CA10579105 |