Deletion | NM_000051.4(ATM):c.5102_5106del (p.Lys1701fs) | ATM | Pathogenic/Likely pathogenic | 11 | 108170534 | 108170538 | CTTAAG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA658656233 |
Deletion | NM_000051.4(ATM):c.5718_5719del (p.Arg1907fs) | ATM | Pathogenic | 11 | 108178666 | 108178667 | CAA | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA658656268 |
single nucleotide variant | NM_000051.4(ATM):c.5944C>T (p.Gln1982Ter) | ATM | Pathogenic | 11 | 108183163 | 108183163 | C | T | criteria provided, single submitter | ClinGen:CA382548683 |
single nucleotide variant | NM_000051.4(ATM):c.7311C>A (p.Tyr2437Ter) | ATM | Pathogenic/Likely pathogenic | 11 | 108200944 | 108200944 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA228418043 |
single nucleotide variant | NM_000051.4(ATM):c.8671+1G>T | ATM | Likely pathogenic | 11 | 108218093 | 108218093 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA382521374 |
single nucleotide variant | NM_000051.4(ATM):c.73-3C>G | ATM | Pathogenic/Likely pathogenic | 11 | 108098500 | 108098500 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA658656135 |
single nucleotide variant | NM_000051.4(ATM):c.362T>A (p.Leu121Ter) | ATM | Pathogenic | 11 | 108106427 | 108106427 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA6264593 |
Deletion | NM_000051.4(ATM):c.964_968del (p.Glu322fs) | ATM | Pathogenic | 11 | 108117751 | 108117755 | AATGAG | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA658656195 |
Duplication | NM_000051.4(ATM):c.441dup (p.Asp148fs) | ATM | Pathogenic | 11 | 108106503 | 108106504 | C | CA | criteria provided, multiple submitters, no conflicts | ClinGen:CA658656155 |
Duplication | NM_000051.4(ATM):c.442dup (p.Asp148fs) | ATM | Pathogenic | 11 | 108106506 | 108106507 | A | AG | criteria provided, multiple submitters, no conflicts | ClinGen:CA658656156 |