single nucleotide variant | NM_000038.6(APC):c.1495C>T (p.Arg499Ter) | APC | Pathogenic | 5 | 112162891 | 112162891 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA005230,OMIM:611731.0031 |
Deletion | NM_000038.6(APC):c.4612_4613del (p.Glu1538fs) | APC | Pathogenic | 5 | 112175902 | 112175903 | CAG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA009642,OMIM:611731.0030 |
Deletion | NM_000038.6(APC):c.5582_5585del (p.Asp1860_Ser1861insTer) | APC | Pathogenic | 5 | 112176871 | 112176874 | ATTCT | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA010520,OMIM:611731.0028 |
single nucleotide variant | NM_000038.6(APC):c.643C>T (p.Gln215Ter) | APC | Pathogenic | 5 | 112116598 | 112116598 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA011177,OMIM:611731.0022 |
single nucleotide variant | NM_000038.6(APC):c.470G>A (p.Trp157Ter) | APC | Pathogenic | 5 | 112111373 | 112111373 | G | A | criteria provided, multiple submitters, no conflicts | OMIM:611731.0021,ClinGen:CA009701 |
single nucleotide variant | NM_000038.6(APC):c.2805C>A (p.Tyr935Ter) | APC | Pathogenic | 5 | 112174096 | 112174096 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA007805,OMIM:611731.0018 |
Insertion | NM_000038.6(APC):c.1885_1886insA (p.Leu629fs) | APC | Pathogenic | 5 | 112170789 | 112170790 | T | TA | criteria provided, single submitter | OMIM:611731.0017,ClinGen:CA006264 |
single nucleotide variant | NM_000038.6(APC):c.1690C>T (p.Arg564Ter) | APC | Pathogenic | 5 | 112164616 | 112164616 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA005451,OMIM:611731.0016 |
single nucleotide variant | NM_000038.6(APC):c.1660C>T (p.Arg554Ter) | APC | Pathogenic | 5 | 112164586 | 112164586 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA005424,OMIM:611731.0015 |
single nucleotide variant | NM_000038.6(APC):c.1621C>T (p.Gln541Ter) | APC | Pathogenic | 5 | 112163698 | 112163698 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA005374,OMIM:611731.0014 |