Deletion | NM_000038.6(APC):c.1530_1548+10del | APC | Likely pathogenic | 5 | 112162923 | 112162951 | CTTTTGGAGATGTAGCCAACAAGGTATGTT | C | criteria provided, single submitter | ClinGen:CA658655939 |
Duplication | NM_000038.6(APC):c.1538_1539dup (p.Ala514Ter) | APC | Pathogenic | 5 | 112162933 | 112162934 | G | GTA | criteria provided, multiple submitters, no conflicts | ClinGen:CA658655940 |
Duplication | NM_000038.6(APC):c.1633dup (p.Ala545fs) | APC | Pathogenic | 5 | 112164558 | 112164559 | T | TG | criteria provided, multiple submitters, no conflicts | ClinGen:CA658655949 |
single nucleotide variant | NM_000038.6(APC):c.1983T>A (p.Cys661Ter) | APC | Pathogenic | 5 | 112173274 | 112173274 | T | A | criteria provided, single submitter | ClinGen:CA16025651 |
Duplication | NM_000038.6(APC):c.3090dup (p.Tyr1031fs) | APC | Pathogenic | 5 | 112174378 | 112174379 | T | TA | criteria provided, multiple submitters, no conflicts | ClinGen:CA658655908 |
Deletion | NM_000038.6(APC):c.4290del (p.Met1431fs) | APC | Pathogenic | 5 | 112175580 | 112175580 | AC | A | criteria provided, single submitter | ClinGen:CA445964441 |
Deletion | NM_000038.6(APC):c.5524del (p.Ser1842fs) | APC | Pathogenic | 5 | 112176814 | 112176814 | AT | A | criteria provided, single submitter | ClinGen:CA658655972 |
Deletion | NM_000038.6(APC):c.74_75del (p.Gln25fs) | APC | Pathogenic | 5 | 112090661 | 112090662 | CAA | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA658657468 |
Deletion | NM_000038.6(APC):c.684_687del (p.Leu229fs) | APC | Pathogenic | 5 | 112128180 | 112128183 | ATACT | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA645546038 |
single nucleotide variant | NM_000038.6(APC):c.802G>T (p.Glu268Ter) | APC | Pathogenic | 5 | 112137048 | 112137048 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16023083 |