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.526-1G>A | NTHL1 | Pathogenic/Likely pathogenic | 16 | 2093728 | 2093728 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_002439.5(MSH3):c.2436-1G>A | MSH3 | Pathogenic/Likely pathogenic | 5 | 80083383 | 80083383 | G | A | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_002528.7(NTHL1):c.350dup (p.Val119fs) | NTHL1 | Pathogenic/Likely pathogenic | 16 | 2096132 | 2096133 | T | TG | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_002528.7(NTHL1):c.433C>T (p.Arg145Ter) | NTHL1 | Pathogenic/Likely pathogenic | 16 | 2094723 | 2094723 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_002439.5(MSH3):c.2686G>T (p.Gly896Ter) | MSH3 | Pathogenic/Likely pathogenic | 5 | 80109433 | 80109433 | G | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_002439.5(MSH3):c.1256C>G (p.Ser419Ter) | MSH3 | Pathogenic/Likely pathogenic | 5 | 79974828 | 79974828 | C | G | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_002439.5(MSH3):c.1060dup (p.Val354fs) | MSH3 | Pathogenic/Likely pathogenic | 5 | 79970833 | 79970834 | T | TG | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_002439.5(MSH3):c.978_984del (p.Phe326fs) | MSH3 | Pathogenic/Likely pathogenic | 5 | 79968628 | 79968634 | TTTCCCGG | T | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_002439.5(MSH3):c.586del (p.Thr196fs) | MSH3 | Pathogenic/Likely pathogenic | 5 | 79965921 | 79965921 | CA | C | criteria provided, multiple submitters, no conflicts | - |