Duplication | NM_004656.4(BAP1):c.959dup (p.Cys320fs) | BAP1 | Pathogenic | 3 | 52439282 | 52439283 | G | GC | criteria provided, single submitter | - |
Duplication | NM_004656.4(BAP1):c.1110dup (p.Met371fs) | BAP1 | Pathogenic | 3 | 52439131 | 52439132 | T | TG | criteria provided, single submitter | - |
single nucleotide variant | NM_004656.4(BAP1):c.1379C>G (p.Ser460Ter) | BAP1 | Pathogenic | 3 | 52437782 | 52437782 | G | C | criteria provided, single submitter | - |
single nucleotide variant | NM_004656.4(BAP1):c.1938T>A (p.Tyr646Ter) | BAP1 | Pathogenic | 3 | 52436840 | 52436840 | A | T | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_004656.4(BAP1):c.932-8_960del | BAP1 | Pathogenic | 3 | 52439282 | 52439318 | CGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACA | C | criteria provided, single submitter | - |
single nucleotide variant | NM_004656.4(BAP1):c.784-2A>T | BAP1 | Likely pathogenic | 3 | 52439930 | 52439930 | T | A | criteria provided, single submitter | - |
single nucleotide variant | NM_004656.4(BAP1):c.155G>A (p.Trp52Ter) | BAP1 | Pathogenic | 3 | 52442590 | 52442590 | C | T | criteria provided, single submitter | - |
Deletion | NM_004656.4(BAP1):c.458_459del (p.Pro153fs) | BAP1 | Pathogenic/Likely pathogenic | 3 | 52441311 | 52441312 | CAG | C | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_004656.4(BAP1):c.1381del (p.Ile461fs) | BAP1 | Pathogenic | 3 | 52437780 | 52437780 | AT | A | criteria provided, single submitter | - |
Deletion | NM_004656.4(BAP1):c.1882_1885del (p.Ser628fs) | BAP1 | Pathogenic | 3 | 52437159 | 52437162 | GGTGA | G | criteria provided, multiple submitters, no conflicts | OMIM:603089.0006 |