Insertion | NM_004260.4(RECQL4):c.1223_1224insT (p.Gln408fs) | RECQL4 | Pathogenic | 8 | 145741182 | 145741183 | C | CA | criteria provided, single submitter | - |
single nucleotide variant | NM_004260.4(RECQL4):c.1236G>A (p.Trp412Ter) | RECQL4 | Pathogenic | 8 | 145741170 | 145741170 | C | T | criteria provided, single submitter | ClinGen:CA372687315 |
single nucleotide variant | NM_004260.4(RECQL4):c.1259-1G>A | RECQL4 | Pathogenic/Likely pathogenic | 8 | 145740842 | 145740842 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA4948930 |
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.1390+2del | RECQL4 | Pathogenic | 8 | 145740708 | 145740708 | CA | C | criteria provided, single submitter | ClinGen:CA144324,OMIM:603780.0009 |
single nucleotide variant | NM_004260.4(RECQL4):c.1391-1G>A | RECQL4 | Pathogenic | 8 | 145740627 | 145740627 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA253754,OMIM:603780.0006 |
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.1400del (p.Ala467fs) | RECQL4 | Pathogenic | 8 | 145740617 | 145740617 | AG | A | criteria provided, single submitter | - |
Deletion | NM_004260.4(RECQL4):c.1568del (p.Ser523fs) | RECQL4 | Pathogenic | 8 | 145740372 | 145740372 | GC | G | criteria provided, single submitter | ClinGen:CA10605113 |
Indel | NM_004260.4(RECQL4):c.1568_1573delinsCCCCC (p.Ser523fs) | RECQL4 | Pathogenic | 8 | 145740367 | 145740372 | AGGGGC | GGGGG | criteria provided, multiple submitters, no conflicts | ClinGen:CA16612532 |