Deletion | NM_001048174.2(MUTYH):c.1016_1017del (p.Pro339fs) | MUTYH | Likely pathogenic | 1 | 45797418 | 45797419 | TGG | T | criteria provided, single submitter | ClinGen:CA16610119 |
single nucleotide variant | NM_001048174.2(MUTYH):c.638G>A (p.Arg213Gln) | MUTYH | Likely pathogenic | 1 | 45798129 | 45798129 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16610124 |
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.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.1102G>A (p.Gly368Ser) | MUTYH | Likely pathogenic | 1 | 45797333 | 45797333 | C | T | criteria provided, single submitter | ClinGen:CA16617156 |
Deletion | NC_000001.11:g.(?_45329300)_(45330563_?)del | MUTYH | Likely pathogenic | 1 | 45794972 | 45796235 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_001048174.2(MUTYH):c.378+2T>G | MUTYH | Likely pathogenic | 1 | 45798767 | 45798767 | A | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA340136052 |
single nucleotide variant | NM_001048174.2(MUTYH):c.493-2A>G | MUTYH | Likely pathogenic | 1 | 45798361 | 45798361 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA340135492 |
Deletion | NM_001048174.2(MUTYH):c.492+1del | MUTYH | Likely pathogenic | 1 | 45798434 | 45798434 | AC | A | criteria provided, single submitter | ClinGen:CA658656928 |
single nucleotide variant | NM_001048174.2(MUTYH):c.264+1G>T | MUTYH | Likely pathogenic | 1 | 45799084 | 45799084 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA340136330 |