Deletion | NM_001048174.2(MUTYH):c.1134del (p.Ser378_Val379insTer) | MUTYH | Pathogenic | 1 | 45797197 | 45797197 | CG | C | criteria provided, single submitter | - |
single nucleotide variant | NM_001048174.2(MUTYH):c.1180C>T (p.Gln394Ter) | MUTYH | Pathogenic | 1 | 45797151 | 45797151 | G | A | criteria provided, single submitter | - |
Deletion | NM_001048174.2(MUTYH):c.210del (p.Ser71fs) | MUTYH | Pathogenic | 1 | 45799139 | 45799139 | TC | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001048174.2(MUTYH):c.254G>A (p.Trp85Ter) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45799095 | 45799095 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001048174.2(MUTYH):c.116-22G>T | MUTYH | Pathogenic | 1 | 45799255 | 45799255 | C | A | criteria provided, single submitter | - |
single nucleotide variant | NM_001048174.2(MUTYH):c.607-1G>A | MUTYH | Likely pathogenic | 1 | 45798161 | 45798161 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_001048174.2(MUTYH):c.705G>A (p.Trp235Ter) | MUTYH | Pathogenic | 1 | 45797982 | 45797982 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_001048174.2(MUTYH):c.248T>C (p.Leu83Pro) | MUTYH | Likely pathogenic | 1 | 45799101 | 45799101 | A | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001048174.2(MUTYH):c.887C>A (p.Ser296Ter) | MUTYH | Pathogenic | 1 | 45797721 | 45797721 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_001048174.2(MUTYH):c.-6-2A>G | MUTYH | Likely pathogenic | 1 | 45800185 | 45800185 | T | C | criteria provided, multiple submitters, no conflicts | - |