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 | - |
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 | - |
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.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.784-2A>T | BAP1 | Likely pathogenic | 3 | 52439930 | 52439930 | T | A | criteria provided, single submitter | - |
Deletion | NC_000003.12:g.(?_52405100)_(52405922_?)del | BAP1 | Likely pathogenic | 3 | 52439116 | 52439938 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_004656.4(BAP1):c.2056+1G>C | BAP1 | Likely pathogenic | 3 | 52436617 | 52436617 | C | G | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_004656.4(BAP1):c.1984-3_1999del | BAP1 | Likely pathogenic | 3 | 52436675 | 52436693 | CTTCTCTGGTCATCAATCTG | C | criteria provided, single submitter | - |
single nucleotide variant | NM_004656.4(BAP1):c.1251-1G>A | BAP1 | Likely pathogenic | 3 | 52437911 | 52437911 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_004656.4(BAP1):c.375+1G>T | BAP1 | Likely pathogenic | 3 | 52441973 | 52441973 | C | A | criteria provided, single submitter | - |