single nucleotide variant | NM_004656.4(BAP1):c.122+1G>A | BAP1 | Pathogenic | 3 | 52443569 | 52443569 | 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 | - |
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.1729+1G>A | BAP1 | Pathogenic | 3 | 52437431 | 52437431 | C | T | 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.2056+1G>C | BAP1 | Likely pathogenic | 3 | 52436617 | 52436617 | C | G | criteria provided, multiple submitters, no conflicts | - |
Deletion | NC_000003.12:g.(?_52405100)_(52405922_?)del | BAP1 | Likely pathogenic | 3 | 52439116 | 52439938 | na | na | criteria provided, single submitter | - |
Duplication | NM_004656.4(BAP1):c.639dup (p.Ile214fs) | BAP1 | Pathogenic | 3 | 52440864 | 52440865 | T | TA | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_004656.4(BAP1):c.706dup (p.Asp236fs) | BAP1 | Pathogenic | 3 | 52440345 | 52440346 | T | TC | criteria provided, single submitter | - |
Deletion | NM_004656.4(BAP1):c.898_917del (p.Arg300fs) | BAP1 | Pathogenic | 3 | 52439795 | 52439814 | CTCAGAGGCTGCAGGGGCCCT | C | criteria provided, single submitter | - |