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 |
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 |
Deletion | NM_004260.4(RECQL4):c.1048_1049del (p.Arg350fs) | RECQL4 | Pathogenic/Likely pathogenic | 8 | 145741454 | 145741455 | CCT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA275308 |
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 |
single nucleotide variant | NM_004260.4(RECQL4):c.2464-1G>C | RECQL4 | Pathogenic/Likely pathogenic | 8 | 145738522 | 145738522 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA222578 |
Deletion | NM_004260.4(RECQL4):c.3072del (p.Val1026fs) | RECQL4 | Pathogenic | 8 | 145737691 | 145737691 | CT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA144337 |
single nucleotide variant | NM_004260.4(RECQL4):c.2476C>T (p.Arg826Ter) | RECQL4 | Pathogenic | 8 | 145738509 | 145738509 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA144335 |
single nucleotide variant | NM_004260.4(RECQL4):c.2059-1G>A | RECQL4 | Pathogenic | 8 | 145739097 | 145739097 | C | T | criteria provided, single submitter | ClinGen:CA144332 |
single nucleotide variant | NM_004260.4(RECQL4):c.1397C>T (p.Pro466Leu) | RECQL4 | Pathogenic/Likely pathogenic | 8 | 145740620 | 145740620 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA144325 |
Deletion | NM_004260.4(RECQL4):c.1390+2del | RECQL4 | Pathogenic | 8 | 145740708 | 145740708 | CA | C | criteria provided, single submitter | ClinGen:CA144324,OMIM:603780.0009 |