Deletion | NM_001048174.2(MUTYH):c.310del (p.Val104fs) | MUTYH | Pathogenic | 1 | 45798837 | 45798837 | AC | A | criteria provided, single submitter | ClinGen:CA658656934 |
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 |
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 |
Deletion | NM_001048174.2(MUTYH):c.879del (p.Ser294fs) | MUTYH | Pathogenic | 1 | 45797729 | 45797729 | TC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA059792 |
Deletion | NM_001048174.2(MUTYH):c.1213del (p.Ala405fs) | MUTYH | Pathogenic | 1 | 45797118 | 45797118 | GC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA658656918 |
Deletion | NM_001048174.2(MUTYH):c.1318_1319del (p.Thr440fs) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45796927 | 45796928 | GGT | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA658656914 |
Deletion | NM_001048174.2(MUTYH):c.337del (p.Gln113fs) | MUTYH | Pathogenic | 1 | 45798810 | 45798810 | TG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA658656933 |
Deletion | NM_001048174.2(MUTYH):c.-6-1317_583del | MUTYH | Pathogenic | 1 | 45798269 | 45801500 | ATGGCCCCAGCTGTGTAGCGCCCCACGCCAGGCAGGAGCTGCTGCAGGGTCTCTGCTGTACGTGGCATGTGGCCCCCTAGCTCCTCTACCACCTGATTGGAGTGCAAGACTCAAGATTATAAGACACCCAAGACTCCTGGGTTCCTACCCTCCTGCCATCCCCTTACCTTCCGAGCTCCCTCCTGCAGCCGCCGGCCACGAGAATAGTAGCCCAGGCCAGCCCAGAGTTGATTCACCTCCTGTGGGTAGGATCAGAGGTCAAAGAGATCACCCGTCAGTCCCTCTATTGTTCCTATTTCCCCTACCCTAGGGTGGCTCTCACCTCCAGGGAAGCACTGGCCAGGTCCTGCAGTGTAGGCCACTTCTATAGCCACAGGCAGGCAGAAAGAGACAAGGTCAAGGGTGAAGGTGGTAGAGGAAGCCTTCTCTACACCCACCCCAAAGTAGAGGCTCTCATCTGGGGTCTGACCCATGACCCTTCCCTTCCTCCCCTGGAGTCACCTGCATCCATCCGGTATAGTAGTTGATCACAGTGGCAACCTGGGTCTGCTGCAGCATGACCTCTGAGACCCACACTGGGGGAAAGGGGTTGGCATGAGGACACTGCTGACCTGCCCCTACCTGGCCCACAGCCCCCAGACCCAAGGGCCTCGAGGCAAAGTGGCCCTGCTCTCAGGAGATGTACTGACCAGCATATGCCCGCCTGTCCAGGTCCATCTCATCTTCTGCCTGTCAATGCAACCCCAGATGAGGAGTTAGGGTGGAGGGGGCTGGGTGCCTGCCTCCCACCCACTGTCCCTGCTCCTCGCCTGCCTACCCGTCTTCTCCATGGTAGGTCCCGTTTCTCTTGGTCGTACCAGCTTAGCAGGCTCCCTCGGAAGGCTGTGACTTCAGCTACGTCTCTGAATAGATGGTATGAGGAGACAGAGGCCTGCAATACCACCTCTTCCGGCTGCCTGGCCAGGCCTGCTGGGGCCCCAGGACACTCAGCAATCATCCCTGCACAGGCTGTGCATCAGGGTCTTGGGACACAGCAGCCTGTGGCAGTATGCTCCCACTTAGGGCTTCCCCCAACTAACCCCCTTAAGCTTTGGAGCTGGAGTCAGACCAGAGTTATGTAATTGTGTGTAGCTGTGGCTAAGTTTCTGGCCTTAATTTTCTCAGGGTGGTACTACTGGCTTGTCTCTGAGCCATAATGAAAACCTAATAGTTTTAGCCAGCTAGAATGTATACTGGTGCAGGACCTTCCTATTCACAAAACACTTTCAGGCTCATAAACTCATTTGGTCCCATGAAAGCCACATGAGGGAGGAAATGCTGAACTACTGCTCCATTTTACTGGTAAGAAAGCAGCCATTCAGAGCAATTGTCCCAATGTCACACAGCAATACAGTCAGAATTACACCCTCAGTGAGTCTCTTTTGTTTTGAGACAAGAGTCTGGCTCTGTTGCCCAGACTGAAATGCAGTTGCATTATCTTGACTCAGTGCAACTTCTGCCTTCCAGGCTCAAGCGATCCTGTCACCTCAGCTTCCCGAGTAGCTGGGACTACAGACGCTCACCACCACGCGAGCATAGAGAGGGGATTTCGCCATGTTACCCAAGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTAGTAAGTCTCTTAATGTCTTGATACGTATCACAATCCCTTCCCAGCCTGAATCTGCCTTTCATGGCCAATGAGCCTTGGGCCACAACCTAGTTCCTTACCATCACAGGCAGAAGGCTTGGCCTGACTGTTGTTCTTAGCATGCTTCTGCCTCCCTTCCTGGCTGGCTGCCTGCTTCCTGTGACCACTTCCCACGGCTGCTCGTGGCTTCCTCATGATGGCCTGAAACAAAAAGACCCAGCCAAAGCAGTCAGTCACAATGAGGCCAAATTTTGAGGCCTTCCAAGGGTGATAGCTATCTCCCTCTCATCCACCATTCACATGGGGTCCAGCTTCTCTCAAGCACTCTCAAGATGCTCACGGGTTTACTCTTGGCTGGCTGCAGCACTGAGATACAACTAGTATAGCTGAGCAAGTGGCCTCAAGGGGGCCGGCGTTACAGCCCTGGAGACATGCAAAGACTGTGAGGCCAGGGCTGGGATGGGTCAAGGATGAAAGCCTCCTGTTTGGGAGCATTTGTGTATCTCTGATGCTTACTGTGACTGTGTGTGTGGATAGGGGTTGTTTAGGTGTGTCTGGGAGAATGGGGGTAGGCGGTTTCTCTGCCTCTTAGAGATGTAGCATGGTTACACTGAAACAGCCTGTAGTAGTCATTAAGTCCAAAACCTTCATTTTATCCTAGAAGAAACCAAGGATCAGAGGGACAAAAGATCTGTCTGAGAACAGATGGCAAATCAGTGGGAGAACAGAGATTAGCTATTTTTATTCCTAATCTAGTAAACCATAGGTGGCTGACCATCAACAATGAGAAAATGTGCCTGGTTGATTTTCACTGCTCCCTAACTGTTATAATGGCCGCCTTTTCTCTAACAGCTAAAATTAGTTGATATTTTGTGAGTGCCTACTCTATGTCAGACCCCATGAAGAGCTTTACCGGATCTCTCAATCTCCTGGTGACTCTATGAGGTATGTACTAGTATCACCTCCACCTTAGTTATAAGGAAATTGAGGTTTATGGAGATTAAGCGACTTGTTCTTTCAAATCCACGACCAGCATTCTTATACTGTGATAAAATGCAGTCCCTGCTAAGCCTCTGTATCAAACTCTCCCCCCAAACCTTTGACTTTACCACCTCATTTTCATCAAAAGAGCTTGCCTCCTCCTTCAGAAAAAAAAAAACCAACTTCAAATCTACCTCCATTTGCACTGTCTTACCCTCCTCCTCTTCAGGGTCCTGCTCCTCCAATCCCGTCTAACTGTTGGAACTCAGAAACTAATACCCCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAACACTGCGGGAGGCTAAGGCAGGCAGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATCCAAAAAAATTAGCCAGACGTGCTCGCTTGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACAGCCTGGGCAACAAAGACAGAGCAAGACTCTGTCTCAAAAAAAAAGAAAAG | A | criteria provided, single submitter | ClinGen:CA658656926 |
Deletion | NM_001048174.2(MUTYH):c.1272del (p.Tyr425fs) | MUTYH | Pathogenic | 1 | 45796974 | 45796974 | AT | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA658656915 |
Deletion | NC_000001.11:g.(?_45329300)_(45330563_?)del | MUTYH | Likely pathogenic | 1 | 45794972 | 45796235 | na | na | criteria provided, single submitter | - |