single nucleotide variant | NM_001048174.2(MUTYH):c.1387A>T (p.Lys463Ter) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45796859 | 45796859 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10577699 |
Duplication | NM_001048174.2(MUTYH):c.1363dup (p.Thr455fs) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45796882 | 45796883 | G | GT | criteria provided, multiple submitters, no conflicts | ClinGen:CA16617154 |
single nucleotide variant | NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter) | MUTYH | Pathogenic | 1 | 45796892 | 45796892 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA011650,OMIM:604933.0005 |
single nucleotide variant | NM_001048174.2(MUTYH):c.1351G>T (p.Glu451Ter) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45796895 | 45796895 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10581802 |
Deletion | NM_001048174.2(MUTYH):c.1318_1319del (p.Thr440fs) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45796927 | 45796928 | GGT | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA658656914 |
Duplication | NM_001048174.2(MUTYH):c.1311dup (p.Val438fs) | MUTYH | Likely pathogenic | 1 | 45796934 | 45796935 | C | CT | criteria provided, single submitter | - |
Deletion | NM_001048174.2(MUTYH):c.1272del (p.Tyr425fs) | MUTYH | Pathogenic | 1 | 45796974 | 45796974 | AT | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA658656915 |
single nucleotide variant | NM_001048174.2(MUTYH):c.1240-1G>T | MUTYH | Likely pathogenic | 1 | 45797007 | 45797007 | C | A | criteria provided, single submitter | ClinGen:CA10577706 |
Deletion | NM_001048174.2(MUTYH):c.1237del (p.Glu413fs) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45797094 | 45797094 | TC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16617155 |
Deletion | NM_001048174.2(MUTYH):c.1213del (p.Ala405fs) | MUTYH | Pathogenic | 1 | 45797118 | 45797118 | GC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA658656918 |