Indel | NM_001048174.2(MUTYH):c.1183_1185delinsC (p.Glu395fs) | MUTYH | Likely pathogenic | 1 | 45797146 | 45797148 | TTC | G | criteria provided, single submitter | - |
Duplication | NM_001048174.2(MUTYH):c.1311dup (p.Val438fs) | MUTYH | Likely pathogenic | 1 | 45796934 | 45796935 | C | CT | criteria provided, single submitter | - |
single nucleotide variant | NM_001048174.2(MUTYH):c.43C>T (p.Gln15Ter) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45800135 | 45800135 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001048174.2(MUTYH):c.475C>T (p.Gln159Ter) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45798452 | 45798452 | G | A | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_001048174.2(MUTYH):c.381del (p.Lys127fs) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45798629 | 45798629 | AC | A | criteria provided, multiple submitters, no conflicts | - |
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 |
Indel | NM_001048174.2(MUTYH):c.725delinsAG (p.Val242fs) | MUTYH | Pathogenic | 1 | 45797962 | 45797962 | A | CT | criteria provided, single submitter | ClinGen:CA658795452 |
Deletion | NM_001048174.2(MUTYH):c.940_962del (p.Cys314fs) | MUTYH | Pathogenic | 1 | 45797473 | 45797495 | CCAGGGCTCCGAGGGAGGCAGGCA | C | criteria provided, single submitter | ClinGen:CA658795451 |
Duplication | NC_000001.10:g.(?_45800057)_(45800189_?)dup | MUTYH | Likely pathogenic | 1 | 45800057 | 45800189 | na | na | criteria provided, single submitter | - |
Deletion | NC_000001.11:g.(?_45329300)_(45333609_?)del | MUTYH | Pathogenic | 1 | 45794972 | 45799281 | na | na | criteria provided, single submitter | - |