single nucleotide variant | NM_001048174.2(MUTYH):c.264+1G>A | MUTYH | Likely pathogenic | 1 | 45799084 | 45799084 | C | T | criteria provided, single submitter | - |
Deletion | NM_001048174.2(MUTYH):c.1393-2_1393-1del | MUTYH | Likely pathogenic | 1 | 45796230 | 45796231 | CCT | C | criteria provided, multiple submitters, no conflicts | - |
Indel | NM_001048174.2(MUTYH):c.-6-95_42delinsC | MUTYH | Pathogenic | 1 | 45800136 | 45800278 | CTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCAT | G | criteria provided, single submitter | - |
Deletion | NC_000001.11:g.(?_45329296)_(45333334_?)del | MUTYH | Pathogenic | 1 | 45794968 | 45799006 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_001048174.2(MUTYH):c.1A>G (p.Met1Val) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45800177 | 45800177 | T | C | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_001048174.2(MUTYH):c.192dup (p.Val65fs) | MUTYH | Pathogenic | 1 | 45799156 | 45799157 | C | CT | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_001048174.2(MUTYH):c.549_576del (p.Leu184fs) | MUTYH | Pathogenic | 1 | 45798276 | 45798303 | CAGCTGTGTAGCGCCCCACGCCAGGCAGG | C | criteria provided, single submitter | - |
single nucleotide variant | NM_001048174.2(MUTYH):c.704G>A (p.Trp235Ter) | MUTYH | Pathogenic | 1 | 45798063 | 45798063 | C | T | criteria provided, single submitter | - |
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 | - |