Deletion | NC_000008.10:g.(?_145736809)_(145739655_?)del | RECQL4 | Pathogenic | 8 | 145736809 | 145739655 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_004260.4(RECQL4):c.3394-1G>C | RECQL4 | Likely pathogenic | 8 | 145737173 | 145737173 | C | G | criteria provided, single submitter | - |
single nucleotide variant | NM_004260.4(RECQL4):c.3393+2T>G | RECQL4 | Likely pathogenic | 8 | 145737292 | 145737292 | A | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_004260.4(RECQL4):c.3393+1G>A | RECQL4 | Likely pathogenic | 8 | 145737293 | 145737293 | C | T | criteria provided, single submitter | - |
Insertion | NM_004260.4(RECQL4):c.3293_3294insGCAGGATGAGGAGCGCAGCA (p.Arg1099fs) | RECQL4 | Likely pathogenic | 8 | 145737393 | 145737394 | G | GTGCTGCGCTCCTCATCCTGC | criteria provided, single submitter | - |
single nucleotide variant | NM_004260.4(RECQL4):c.3280G>T (p.Glu1094Ter) | RECQL4 | Pathogenic | 8 | 145737407 | 145737407 | C | A | criteria provided, single submitter | - |
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.3237-1G>A | RECQL4 | Likely pathogenic | 8 | 145737451 | 145737451 | C | T | criteria provided, single submitter | - |
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.3072_3073del (p.Val1026fs) | RECQL4 | Pathogenic/Likely pathogenic | 8 | 145737690 | 145737691 | CCT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA4947935 |