single nucleotide variant | NM_000051.4(ATM):c.103C>T (p.Arg35Ter) | ATM | Pathogenic/Likely pathogenic | 11 | 108098533 | 108098533 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA166087,OMIM:607585.0008 |
single nucleotide variant | NM_000051.4(ATM):c.9139C>T (p.Arg3047Ter) | ATM | Pathogenic | 11 | 108236203 | 108236203 | C | T | reviewed by expert panel | ClinGen:CA115937,OMIM:607585.0012 |
Indel | NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro) | ATM | Pathogenic/Likely pathogenic | 11 | 108203575 | 108203576 | TG | GC | criteria provided, multiple submitters, no conflicts | ClinGen:CA211317,OMIM:607585.0013 |
Indel | NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs) | ATM | Pathogenic | 11 | 108143540 | 108143542 | ATC | TGAT | reviewed by expert panel | ClinGen:CA298025,OMIM:607585.0016 |
single nucleotide variant | NM_000051.4(ATM):c.3576G>A (p.Lys1192=) | ATM | Pathogenic/Likely pathogenic | 11 | 108151895 | 108151895 | G | A | criteria provided, multiple submitters, no conflicts | OMIM:607585.0018,ClinGen:CA193897 |
single nucleotide variant | NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter) | ATM | Pathogenic/Likely pathogenic | 11 | 108200960 | 108200960 | C | T | criteria provided, multiple submitters, no conflicts | OMIM:607585.0019,ClinGen:CA325513 |
single nucleotide variant | NM_000051.4(ATM):c.4081C>T (p.Gln1361Ter) | ATM | Pathogenic | 11 | 108158414 | 108158414 | C | T | criteria provided, single submitter | ClinGen:CA249428,OMIM:607585.0024 |
single nucleotide variant | NM_000051.4(ATM):c.5309C>G (p.Ser1770Ter) | ATM | Pathogenic | 11 | 108172506 | 108172506 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA115949,OMIM:607585.0025 |
Deletion | NM_000051.3(ATM):c.2839-579_2839-576del | ATM | Pathogenic/Likely pathogenic | 11 | 108141210 | 108141213 | GGTAA | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA252541,OMIM:607585.0026 |
single nucleotide variant | NM_000051.4(ATM):c.2250G>A (p.Lys750=) | ATM | Pathogenic/Likely pathogenic | 11 | 108127067 | 108127067 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA286741,OMIM:607585.0027 |