single nucleotide variant | NM_004260.4(RECQL4):c.1089C>G (p.Tyr363Ter) | RECQL4 | Pathogenic/Likely pathogenic | 8 | 145741414 | 145741414 | G | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_004260.4(RECQL4):c.2755+1G>A | RECQL4 | Pathogenic/Likely pathogenic | 8 | 145738229 | 145738229 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_004260.4(RECQL4):c.2662C>T (p.Gln888Ter) | RECQL4 | Pathogenic/Likely pathogenic | 8 | 145738323 | 145738323 | G | A | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_004260.4(RECQL4):c.2889del (p.Pro965fs) | RECQL4 | Pathogenic/Likely pathogenic | 8 | 145737941 | 145737941 | GA | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_004260.4(RECQL4):c.1717C>T (p.Gln573Ter) | RECQL4 | Pathogenic/Likely pathogenic | 8 | 145739734 | 145739734 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_004260.4(RECQL4):c.2869C>T (p.Gln957Ter) | RECQL4 | Pathogenic/Likely pathogenic | 8 | 145738041 | 145738041 | G | A | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_004260.3(RECQL4):c.359_374del (p.Gly120Alafs) | RECQL4 | Pathogenic/Likely pathogenic | 8 | 145742129 | 145742144 | GCGGCCCAGGGCTGGTC | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_004260.4(RECQL4):c.2272C>T (p.Arg758Ter) | RECQL4 | Pathogenic/Likely pathogenic | 8 | 145738793 | 145738793 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA4948352 |
Deletion | NM_004260.4(RECQL4):c.752del (p.Ser251fs) | RECQL4 | Pathogenic/Likely pathogenic | 8 | 145741751 | 145741751 | GC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA16618614 |
Deletion | NM_004260.4(RECQL4):c.1131_1131+3del | RECQL4 | Pathogenic/Likely pathogenic | 8 | 145741369 | 145741372 | TTACC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16612268 |