Duplication | NM_004656.4(BAP1):c.1896_1900dup (p.Ala634fs) | BAP1 | Pathogenic | 3 | 52436877 | 52436878 | G | GCCAGC | criteria provided, single submitter | - |
single nucleotide variant | NM_004656.4(BAP1):c.37+1G>T | BAP1 | Likely pathogenic | 3 | 52443857 | 52443857 | C | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_004656.4(BAP1):c.1203T>G (p.Tyr401Ter) | BAP1 | Pathogenic | 3 | 52438516 | 52438516 | A | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_004656.4(BAP1):c.1321C>T (p.Gln441Ter) | BAP1 | Pathogenic | 3 | 52437840 | 52437840 | G | A | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_004656.4(BAP1):c.254_255+15del | BAP1 | Likely pathogenic | 3 | 52442475 | 52442491 | ACAGAGTCCAGCAGACCT | A | criteria provided, single submitter | - |
single nucleotide variant | NM_004656.4(BAP1):c.660-2A>G | BAP1 | Likely pathogenic | 3 | 52440394 | 52440394 | T | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_004656.4(BAP1):c.1730-1G>A | BAP1 | Likely pathogenic | 3 | 52437315 | 52437315 | C | T | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_004656.4(BAP1):c.11del (p.Gly4fs) | BAP1 | Pathogenic | 3 | 52443884 | 52443884 | GC | G | criteria provided, single submitter | - |
single nucleotide variant | NM_004656.4(BAP1):c.15G>A (p.Trp5Ter) | BAP1 | Pathogenic | 3 | 52443880 | 52443880 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_004656.4(BAP1):c.178C>T (p.Arg60Ter) | BAP1 | Pathogenic | 3 | 52442567 | 52442567 | G | A | criteria provided, multiple submitters, no conflicts | - |