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.2756-1G>A | RECQL4 | Likely pathogenic | 8 | 145738155 | 145738155 | C | T | 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.2200+2T>C | RECQL4 | Likely pathogenic | 8 | 145738953 | 145738953 | A | G | criteria provided, single submitter | - |
Deletion | NM_004260.4(RECQL4):c.2336_2357del (p.Asp779fs) | RECQL4 | Likely pathogenic | 8 | 145738707 | 145738728 | CACAGCCCGCACATCTGGCCGGT | C | 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.1131+1G>A | RECQL4 | Likely pathogenic | 8 | 145741371 | 145741371 | C | T | criteria provided, single submitter | ClinGen:CA372687922 |
Deletion | NM_004260.4(RECQL4):c.2866_2885+19del | RECQL4 | Likely pathogenic | 8 | 145738006 | 145738044 | ACTGGGCAGGGCGTGCTTACCTGTGGGCCAGGGCCTGGAG | A | criteria provided, single submitter | ClinGen:CA586165231 |
single nucleotide variant | NM_004260.4(RECQL4):c.1390+1G>T | RECQL4 | Likely pathogenic | 8 | 145740709 | 145740709 | C | A | criteria provided, single submitter | ClinGen:CA372685222 |