Deletion | NM_000038.6(APC):c.3335_3336del (p.Thr1112fs) | APC | Pathogenic | 5 | 112174625 | 112174626 | AAC | A | criteria provided, single submitter | ClinGen:CA16618081 |
Deletion | NM_000038.6(APC):c.3904del (p.Leu1302fs) | APC | Pathogenic | 5 | 112175193 | 112175193 | AC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16618083 |
Deletion | NM_000038.6(APC):c.3920_3924del (p.Ile1307fs) | APC | Pathogenic | 5 | 112175208 | 112175212 | GAAATA | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA16618084 |
Insertion | NM_000038.6(APC):c.4059_4060insG (p.Phe1354fs) | APC | Pathogenic | 5 | 112175350 | 112175351 | A | AG | criteria provided, single submitter | ClinGen:CA16618085 |
Insertion | NM_000038.6(APC):c.4778_4779insT (p.Lys1593fs) | APC | Pathogenic | 5 | 112176069 | 112176070 | A | AT | criteria provided, multiple submitters, no conflicts | ClinGen:CA16618087 |
Duplication | NM_000038.6(APC):c.5234dup (p.Ile1746fs) | APC | Pathogenic/Likely pathogenic | 5 | 112176520 | 112176521 | G | GA | criteria provided, multiple submitters, no conflicts | ClinGen:CA16618089 |
Deletion | NM_000038.6(APC):c.5562del (p.Cys1855fs) | APC | Pathogenic | 5 | 112176853 | 112176853 | AC | A | criteria provided, single submitter | ClinGen:CA16618090 |
Deletion | NM_000038.6(APC):c.5569del (p.Ser1857fs) | APC | Likely pathogenic | 5 | 112176856 | 112176856 | GT | G | criteria provided, single submitter | ClinGen:CA16618091 |
single nucleotide variant | NM_000038.6(APC):c.5764C>T (p.Gln1922Ter) | APC | Pathogenic | 5 | 112177055 | 112177055 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16033943 |
Deletion | NM_000038.6(APC):c.5839del (p.Thr1947fs) | APC | Pathogenic | 5 | 112177129 | 112177129 | CA | C | criteria provided, single submitter | ClinGen:CA16618092 |