single nucleotide variant | NM_004260.4(RECQL4):c.2885+1G>T | RECQL4 | Likely pathogenic | 8 | 145738024 | 145738024 | C | A | criteria provided, single submitter | - |
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.2886-2A>G | RECQL4 | Pathogenic | 8 | 145737946 | 145737946 | T | C | criteria provided, single submitter | - |
Deletion | NM_004260.4(RECQL4):c.2889del (p.Pro965fs) | RECQL4 | Pathogenic/Likely pathogenic | 8 | 145737941 | 145737941 | GA | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_004260.4(RECQL4):c.3025C>T (p.Gln1009Ter) | RECQL4 | Pathogenic | 8 | 145737805 | 145737805 | G | A | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_004260.4(RECQL4):c.3055+1del | RECQL4 | Likely pathogenic | 8 | 145737774 | 145737774 | AC | A | criteria provided, single submitter | - |
single nucleotide variant | NM_004260.4(RECQL4):c.3056-2A>C | RECQL4 | Pathogenic/Likely pathogenic | 8 | 145737709 | 145737709 | T | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA253758,OMIM:603780.0014 |
single nucleotide variant | NM_004260.4(RECQL4):c.3061C>T (p.Arg1021Trp) | RECQL4 | Pathogenic | 8 | 145737702 | 145737702 | G | A | criteria provided, single submitter | ClinGen:CA253756,OMIM:603780.0012 |
Deletion | NM_004260.4(RECQL4):c.3072del (p.Val1026fs) | RECQL4 | Pathogenic | 8 | 145737691 | 145737691 | CT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA144337 |
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 |