single nucleotide variant | NM_001048174.2(MUTYH):c.420+2T>C | MUTYH | Pathogenic/Likely pathogenic | 1 | 45798588 | 45798588 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA013687 |
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.49del (p.Ala17fs) | MUTYH | Pathogenic | 1 | 45800129 | 45800129 | GC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA014621 |
single nucleotide variant | NM_001048174.2(MUTYH):c.1103-2A>G | MUTYH | Pathogenic/Likely pathogenic | 1 | 45797230 | 45797230 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA012245 |
single nucleotide variant | NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45798117 | 45798117 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA014226 |
single nucleotide variant | NM_001048174.2(MUTYH):c.856C>T (p.Gln286Ter) | MUTYH | Pathogenic | 1 | 45797752 | 45797752 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA014709 |
single nucleotide variant | NM_001048174.2(MUTYH):c.1102+1G>A | MUTYH | Pathogenic/Likely pathogenic | 1 | 45797332 | 45797332 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA012227 |
single nucleotide variant | NM_001048174.2(MUTYH):c.205C>T (p.Arg69Ter) | MUTYH | Pathogenic | 1 | 45799144 | 45799144 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA013297 |
single nucleotide variant | NM_001048174.2(MUTYH):c.309G>A (p.Trp103Ter) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45798838 | 45798838 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA013516 |
single nucleotide variant | NM_001048174.2(MUTYH):c.13C>T (p.Arg5Ter) | MUTYH | Pathogenic | 1 | 45800165 | 45800165 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA013854 |