single nucleotide variant | NM_004260.4(RECQL4):c.574C>T (p.Gln192Ter) | RECQL4 | Pathogenic | 8 | 145741929 | 145741929 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_004260.4(RECQL4):c.517C>T (p.Gln173Ter) | RECQL4 | Pathogenic | 8 | 145741986 | 145741986 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA4949263 |
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 | - |
Deletion | NM_004260.4(RECQL4):c.318del (p.Gln107fs) | RECQL4 | Pathogenic | 8 | 145742470 | 145742470 | GC | G | criteria provided, single submitter | - |
single nucleotide variant | NM_004260.4(RECQL4):c.315C>G (p.Tyr105Ter) | RECQL4 | Pathogenic | 8 | 145742473 | 145742473 | G | C | criteria provided, single submitter | - |
Deletion | NM_004260.4(RECQL4):c.194_200del (p.Leu65fs) | RECQL4 | Pathogenic | 8 | 145742811 | 145742817 | CGCGGGGA | C | criteria provided, single submitter | ClinGen:CA658657853 |
Deletion | NM_004260.4(RECQL4):c.143_144del (p.Leu48fs) | RECQL4 | Pathogenic | 8 | 145742867 | 145742868 | TCA | T | criteria provided, single submitter | ClinGen:CA658657854 |
single nucleotide variant | NM_004260.4(RECQL4):c.118+2T>C | RECQL4 | Likely pathogenic | 8 | 145742984 | 145742984 | A | G | criteria provided, single submitter | - |
single nucleotide variant | NM_004260.4(RECQL4):c.82C>T (p.Gln28Ter) | RECQL4 | Pathogenic | 8 | 145743087 | 145743087 | G | A | criteria provided, single submitter | ClinGen:CA274910 |