single nucleotide variant | NM_002528.7(NTHL1):c.409C>T (p.Gln137Ter) | NTHL1 | Pathogenic | 16 | 2094747 | 2094747 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_002528.7(NTHL1):c.366C>G (p.Tyr122Ter) | NTHL1 | Pathogenic | 16 | 2094790 | 2094790 | G | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_002528.7(NTHL1):c.366C>A (p.Tyr122Ter) | NTHL1 | Pathogenic | 16 | 2094790 | 2094790 | G | T | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_002528.7(NTHL1):c.356_359dup (p.Arg121fs) | NTHL1 | Pathogenic | 16 | 2094796 | 2094797 | G | GCGTA | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_002528.7(NTHL1):c.354+2T>C | NTHL1 | Likely pathogenic | 16 | 2096127 | 2096127 | A | G | criteria provided, single submitter | - |
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.259C>T (p.Gln87Ter) | NTHL1 | Pathogenic | 16 | 2096224 | 2096224 | G | 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 | - |
Deletion | NM_002528.7(NTHL1):c.203del (p.Gly68fs) | NTHL1 | Pathogenic/Likely pathogenic | 16 | 2096280 | 2096280 | AC | A | 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 | - |