single nucleotide variant | NM_001048174.2(MUTYH):c.1197G>A (p.Trp399Ter) | MUTYH | Pathogenic | 1 | 45797134 | 45797134 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16610172 |
Deletion | NM_001048174.2(MUTYH):c.1196_1205del (p.Trp399fs) | MUTYH | Pathogenic | 1 | 45797126 | 45797135 | GGGCCCAGCCC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA645372119 |
single nucleotide variant | NM_001048174.2(MUTYH):c.1183G>T (p.Glu395Ter) | MUTYH | Pathogenic | 1 | 45797148 | 45797148 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16610132 |
Indel | NM_001048174.2(MUTYH):c.1183_1185delinsC (p.Glu395fs) | MUTYH | Likely pathogenic | 1 | 45797146 | 45797148 | TTC | G | 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 | - |
single nucleotide variant | NM_001048174.2(MUTYH):c.1156C>T (p.Gln386Ter) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45797175 | 45797175 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA055585 |
Duplication | NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45797186 | 45797187 | T | TCC | criteria provided, multiple submitters, no conflicts | ClinGen:CA011586,LOVD 3:MUTYH_000078,OMIM:604933.0008 |
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.1130C>T (p.Pro377Leu) | MUTYH | Pathogenic | 1 | 45797201 | 45797201 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA012325 |
Deletion | NM_001048174.2(MUTYH):c.1130_1140del (p.Pro377fs) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45797191 | 45797201 | AGGTCACGGACG | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA336859 |