Deletion | NM_001048174.2(MUTYH):c.1468del (p.Ser490fs) | MUTYH | Likely pathogenic | 1 | 45795076 | 45795076 | CT | C | criteria provided, single submitter | ClinGen:CA10581799 |
Deletion | NC_000001.11:g.(?_45329306)_(45333324_?)del | MUTYH | Pathogenic | 1 | 45794978 | 45798996 | 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 | - |
Deletion | NC_000001.11:g.(?_45329300)_(45330563_?)del | MUTYH | Likely pathogenic | 1 | 45794972 | 45796235 | na | na | criteria provided, single submitter | - |
Deletion | NC_000001.11:g.(?_45329296)_(45333334_?)del | MUTYH | Pathogenic | 1 | 45794968 | 45799006 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_002528.7(NTHL1):c.115+1G>A | NTHL1 | Pathogenic/Likely pathogenic | 16 | 2097709 | 2097709 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_002528.7(NTHL1):c.116-1G>A | NTHL1 | Likely pathogenic | 16 | 2096368 | 2096368 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_002528.7(NTHL1):c.160C>T (p.Gln54Ter) | NTHL1 | Pathogenic | 16 | 2096323 | 2096323 | G | A | criteria provided, single submitter | - |
Deletion | NM_002528.7(NTHL1):c.203del (p.Gly68fs) | NTHL1 | Pathogenic/Likely pathogenic | 16 | 2096280 | 2096280 | AC | A | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_002528.7(NTHL1):c.211dup (p.Ala71fs) | NTHL1 | Pathogenic/Likely pathogenic | 16 | 2096271 | 2096272 | G | GC | criteria provided, multiple submitters, no conflicts | - |