single nucleotide variant | NM_004260.4(RECQL4):c.2886-2A>G | RECQL4 | Pathogenic | 8 | 145737946 | 145737946 | T | C | criteria provided, single submitter | - |
Insertion | NM_004260.4(RECQL4):c.674_675insT (p.Ala226fs) | RECQL4 | Pathogenic | 8 | 145741828 | 145741829 | C | CA | criteria provided, single submitter | - |
single nucleotide variant | NM_004260.4(RECQL4):c.1149G>A (p.Trp383Ter) | RECQL4 | Pathogenic | 8 | 145741257 | 145741257 | C | T | criteria provided, multiple submitters, no conflicts | - |
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.1960C>T (p.Gln654Ter) | RECQL4 | Pathogenic | 8 | 145739410 | 145739410 | G | A | criteria provided, single submitter | ClinGen:CA187684495 |
single nucleotide variant | NM_004260.4(RECQL4):c.2590C>T (p.Gln864Ter) | RECQL4 | Pathogenic | 8 | 145738395 | 145738395 | G | A | criteria provided, single submitter | ClinGen:CA187681645 |
single nucleotide variant | NM_004260.4(RECQL4):c.3148C>T (p.Gln1050Ter) | RECQL4 | Pathogenic | 8 | 145737615 | 145737615 | G | A | criteria provided, single submitter | ClinGen:CA372670256 |
Deletion | NM_004260.4(RECQL4):c.3277del (p.Asp1093fs) | RECQL4 | Pathogenic | 8 | 145737410 | 145737410 | TC | T | criteria provided, single submitter | ClinGen:CA586165205 |
single nucleotide variant | NM_004260.4(RECQL4):c.1236G>A (p.Trp412Ter) | RECQL4 | Pathogenic | 8 | 145741170 | 145741170 | C | T | criteria provided, single submitter | ClinGen:CA372687315 |
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 |