Deletion | NM_004260.4(RECQL4):c.1573del (p.Cys525fs) | RECQL4 | Pathogenic | 8 | 145740367 | 145740367 | CA | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA144327,OMIM:603780.0005 |
Deletion | NM_004260.4(RECQL4):c.1650_1656del (p.Ala551fs) | RECQL4 | Pathogenic | 8 | 145739874 | 145739880 | TGCAGGCC | T | criteria provided, single submitter | ClinGen:CA253749,OMIM:603780.0001 |
single nucleotide variant | NM_004260.4(RECQL4):c.1699C>T (p.Gln567Ter) | RECQL4 | Pathogenic | 8 | 145739831 | 145739831 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_004260.4(RECQL4):c.1704+1G>A | RECQL4 | Pathogenic/Likely pathogenic | 8 | 145739825 | 145739825 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA253761,OMIM:603780.0016 |
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 | - |
Deletion | NM_004260.4(RECQL4):c.1770_1807del (p.Pro591fs) | RECQL4 | Pathogenic | 8 | 145739644 | 145739681 | CAGGCAAAAGCAACTGGAGGCAGCTGTGCGGCTGGAGGG | C | criteria provided, single submitter | - |
single nucleotide variant | NM_004260.4(RECQL4):c.1816G>T (p.Glu606Ter) | RECQL4 | Pathogenic | 8 | 145739635 | 145739635 | C | A | criteria provided, single submitter | ClinGen:CA10582564 |
single nucleotide variant | NM_004260.4(RECQL4):c.1834C>T (p.Gln612Ter) | RECQL4 | Pathogenic | 8 | 145739617 | 145739617 | G | A | criteria provided, single submitter | ClinGen:CA372680734 |
single nucleotide variant | NM_004260.4(RECQL4):c.1838G>A (p.Trp613Ter) | RECQL4 | Pathogenic | 8 | 145739613 | 145739613 | C | T | criteria provided, single submitter | ClinGen:CA372680700 |
single nucleotide variant | NM_004260.4(RECQL4):c.1960C>T (p.Gln654Ter) | RECQL4 | Pathogenic | 8 | 145739410 | 145739410 | G | A | criteria provided, single submitter | ClinGen:CA187684495 |