Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
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(GRCh37) |
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Duplication | NM_004260.4(RECQL4):c.2379_2380dup (p.Ser794fs) | RECQL4 | Pathogenic | 8 | 145738683 | 145738684 | C | CTT | criteria provided, single submitter | ClinGen:CA10582563 |
single nucleotide variant | NM_004260.4(RECQL4):c.1816G>T (p.Glu606Ter) | RECQL4 | Pathogenic | 8 | 145739635 | 145739635 | C | A | criteria provided, single submitter | ClinGen:CA10582564 |
Deletion | NM_004260.4(RECQL4):c.1102del (p.Ala368fs) | RECQL4 | Pathogenic | 8 | 145741401 | 145741401 | GC | G | criteria provided, single submitter | ClinGen:CA10603050 |
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 |
Deletion | NM_004260.4(RECQL4):c.1568del (p.Ser523fs) | RECQL4 | Pathogenic | 8 | 145740372 | 145740372 | GC | G | criteria provided, single submitter | ClinGen:CA10605113 |
Deletion | NM_004260.4(RECQL4):c.1131_1131+3del | RECQL4 | Pathogenic/Likely pathogenic | 8 | 145741369 | 145741372 | TTACC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16612268 |
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 |
Deletion | NM_004260.4(RECQL4):c.1015del (p.Leu339fs) | RECQL4 | Pathogenic | 8 | 145741488 | 145741488 | AG | A | criteria provided, single submitter | ClinGen:CA16612542 |
Deletion | NM_004260.4(RECQL4):c.805del (p.Trp269fs) | RECQL4 | Pathogenic | 8 | 145741698 | 145741698 | CA | C | criteria provided, single submitter | ClinGen:CA16612545 |
Deletion | NM_004260.4(RECQL4):c.752del (p.Ser251fs) | RECQL4 | Pathogenic/Likely pathogenic | 8 | 145741751 | 145741751 | GC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA16618614 |