Deletion | NM_001048174.2(MUTYH):c.1017del (p.Arg340fs) | MUTYH | Pathogenic | 1 | 45797418 | 45797418 | TG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA522810414 |
single nucleotide variant | NM_001048174.2(MUTYH):c.1102+1G>T | MUTYH | Pathogenic/Likely pathogenic | 1 | 45797332 | 45797332 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA340133234 |
single nucleotide variant | NM_001048174.2(MUTYH):c.268G>T (p.Glu90Ter) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45798993 | 45798993 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA340136310 |
single nucleotide variant | NM_001128425.2(MUTYH):c.36+1G>A | MUTYH | Likely pathogenic | 1 | 45805890 | 45805890 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA340137825 |
single nucleotide variant | NM_001128425.2(MUTYH):c.36G>A (p.Trp12Ter) | MUTYH | Pathogenic | 1 | 45805891 | 45805891 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA340137829 |
single nucleotide variant | NM_001048174.2(MUTYH):c.224G>A (p.Trp75Ter) | MUTYH | Pathogenic | 1 | 45799125 | 45799125 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA340136412 |
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 |
single nucleotide variant | NM_001048174.2(MUTYH):c.606G>A (p.Gln202=) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45798246 | 45798246 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA21838430 |
single nucleotide variant | NM_001048174.2(MUTYH):c.164C>G (p.Ser55Ter) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45799185 | 45799185 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA057154 |
Deletion | NM_001048174.2(MUTYH):c.492+1del | MUTYH | Likely pathogenic | 1 | 45798434 | 45798434 | AC | A | criteria provided, single submitter | ClinGen:CA658656928 |