Deletion | NM_001048174.2(MUTYH):c.1392_1392+6del | MUTYH | Likely pathogenic | 1 | 45796848 | 45796854 | GTAGTGCC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA346797 |
single nucleotide variant | NM_001048174.2(MUTYH):c.421-2A>C | MUTYH | Likely pathogenic | 1 | 45798508 | 45798508 | T | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA013693 |
single nucleotide variant | NM_001048174.2(MUTYH):c.420+2T>G | MUTYH | Likely pathogenic | 1 | 45798588 | 45798588 | A | C | criteria provided, single submitter | ClinGen:CA336154 |
single nucleotide variant | NM_001048174.2(MUTYH):c.1434+1G>T | MUTYH | Likely pathogenic | 1 | 45796187 | 45796187 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10577697 |
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.1468del (p.Ser490fs) | MUTYH | Likely pathogenic | 1 | 45795076 | 45795076 | CT | C | criteria provided, single submitter | ClinGen:CA10581799 |
single nucleotide variant | NM_001048174.2(MUTYH):c.606+1G>T | MUTYH | Likely pathogenic | 1 | 45798245 | 45798245 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10581808 |
single nucleotide variant | NM_001048174.2(MUTYH):c.1393-1G>A | MUTYH | Likely pathogenic | 1 | 45796230 | 45796230 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16040736 |
single nucleotide variant | NM_001048174.2(MUTYH):c.379-1G>A | MUTYH | Likely pathogenic | 1 | 45798632 | 45798632 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16603709 |
single nucleotide variant | NM_001048174.2(MUTYH):c.849+2T>G | MUTYH | Likely pathogenic | 1 | 45797836 | 45797836 | A | C | criteria provided, single submitter | ClinGen:CA16610117 |