Deletion | NM_000051.4(ATM):c.9112del (p.Gln3038fs) | ATM | Pathogenic | 11 | 108236176 | 108236176 | GC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA287048 |
single nucleotide variant | NM_000051.4(ATM):c.9109C>T (p.Gln3037Ter) | ATM | Likely pathogenic | 11 | 108236173 | 108236173 | C | T | criteria provided, single submitter | - |
Duplication | NM_000051.4(ATM):c.9079dup (p.Ser3027fs) | ATM | Pathogenic/Likely pathogenic | 11 | 108236142 | 108236143 | C | CA | criteria provided, multiple submitters, no conflicts | ClinGen:CA332369 |
Deletion | NM_000051.4(ATM):c.9073del (p.Val3025fs) | ATM | Pathogenic | 11 | 108236137 | 108236137 | TG | T | criteria provided, single submitter | ClinGen:CA658797746 |
Duplication | NM_000051.4(ATM):c.9064dup (p.Glu3022fs) | ATM | Pathogenic/Likely pathogenic | 11 | 108236127 | 108236128 | A | AG | criteria provided, multiple submitters, no conflicts | ClinGen:CA16041432 |
Deletion | NM_000051.4(ATM):c.9047_9057del (p.Lys3016fs) | ATM | Pathogenic/Likely pathogenic | 11 | 108236109 | 108236119 | AGAAACTGAAAG | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA169859 |
Insertion | NM_000051.4(ATM):c.9050_9051insTTCA (p.Lys3018fs) | ATM | Pathogenic | 11 | 108236114 | 108236115 | T | TTTCA | criteria provided, single submitter | ClinGen:CA658656281 |
Duplication | NM_000051.4(ATM):c.9045_9052dup (p.Lys3018delinsArgAsnTer) | ATM | Pathogenic | 11 | 108236106 | 108236107 | A | AGAGAAACT | criteria provided, multiple submitters, no conflicts | ClinGen:CA16619271 |
Deletion | NM_000051.4(ATM):c.9037_9040del (p.Leu3013fs) | ATM | Pathogenic | 11 | 108236101 | 108236104 | ACTAC | A | criteria provided, single submitter | - |
Duplication | NM_000051.4(ATM):c.9039dup (p.Gln3014fs) | ATM | Pathogenic/Likely pathogenic | 11 | 108236102 | 108236103 | T | TA | criteria provided, multiple submitters, no conflicts | ClinGen:CA10584379 |