single nucleotide variant | NM_000038.6(APC):c.7678C>T (p.Arg2560Ter) | APC | Pathogenic | 5 | 112178969 | 112178969 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000038.6(APC):c.7512G>A (p.Trp2504Ter) | APC | Pathogenic | 5 | 112178803 | 112178803 | G | A | criteria provided, single submitter | ClinGen:CA16037663 |
single nucleotide variant | NM_000038.6(APC):c.7511G>A (p.Trp2504Ter) | APC | Pathogenic | 5 | 112178802 | 112178802 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA248496 |
single nucleotide variant | NM_000038.6(APC):c.7498C>T (p.Gln2500Ter) | APC | Pathogenic | 5 | 112178789 | 112178789 | C | T | criteria provided, single submitter | - |
Duplication | NM_000038.6(APC):c.7489dup (p.Ser2497fs) | APC | Pathogenic/Likely pathogenic | 5 | 112178778 | 112178779 | A | AT | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000038.6(APC):c.7438C>T (p.Gln2480Ter) | APC | Pathogenic | 5 | 112178729 | 112178729 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16037518 |
Deletion | NM_000038.6(APC):c.7432del (p.Gln2478fs) | APC | Pathogenic | 5 | 112178721 | 112178721 | TC | T | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000038.6(APC):c.7270_7273del (p.Ser2424fs) | APC | Pathogenic | 5 | 112178559 | 112178562 | AAATC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA658683427 |
single nucleotide variant | NM_000038.6(APC):c.7271C>G (p.Ser2424Ter) | APC | Pathogenic | 5 | 112178562 | 112178562 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA16037165 |
single nucleotide variant | NM_000038.6(APC):c.7069A>T (p.Lys2357Ter) | APC | Pathogenic | 5 | 112178360 | 112178360 | A | T | criteria provided, single submitter | - |