Deletion | NM_001048174.2(MUTYH):c.1468del (p.Ser490fs) | MUTYH | Likely pathogenic | 1 | 45795076 | 45795076 | CT | C | criteria provided, single submitter | ClinGen:CA10581799 |
Duplication | NM_001048174.2(MUTYH):c.1465_1466dup (p.Ser490fs) | MUTYH | Likely pathogenic | 1 | 45795077 | 45795078 | G | GCA | criteria provided, single submitter | ClinGen:CA16610168 |
single nucleotide variant | NM_001048174.2(MUTYH):c.1434+1G>T | MUTYH | Likely pathogenic | 1 | 45796187 | 45796187 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10577697 |
single nucleotide variant | NM_001048174.2(MUTYH):c.1407T>G (p.Tyr469Ter) | MUTYH | Likely pathogenic | 1 | 45796215 | 45796215 | A | C | criteria provided, single submitter | ClinGen:CA16617152 |
single nucleotide variant | NM_001048174.2(MUTYH):c.1393G>T (p.Val465Phe) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45796229 | 45796229 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA056613 |
single nucleotide variant | NM_001048174.2(MUTYH):c.1393-1G>A | MUTYH | Likely pathogenic | 1 | 45796230 | 45796230 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16040736 |
Deletion | NM_001048174.2(MUTYH):c.1393-2_1393-1del | MUTYH | Likely pathogenic | 1 | 45796230 | 45796231 | CCT | C | criteria provided, multiple submitters, no conflicts | - |
Deletion | NC_000001.11:g.(?_45329300)_(45330563_?)del | MUTYH | Likely pathogenic | 1 | 45794972 | 45796235 | na | na | criteria provided, single submitter | - |
Deletion | NM_001048174.2(MUTYH):c.1392_1392+6del | MUTYH | Likely pathogenic | 1 | 45796848 | 45796854 | GTAGTGCC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA346797 |
single nucleotide variant | NM_001048174.2(MUTYH):c.1390A>T (p.Lys464Ter) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45796856 | 45796856 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA338021 |