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.1938T>A (p.Tyr646Ter) | BAP1 | Pathogenic | 3 | 52436840 | 52436840 | A | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_004656.4(BAP1):c.1975A>T (p.Lys659Ter) | BAP1 | Pathogenic | 3 | 52436803 | 52436803 | T | A | criteria provided, single submitter | ClinGen:CA353096480 |
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.1984-1G>A | BAP1 | Likely pathogenic | 3 | 52436691 | 52436691 | C | T | criteria provided, single submitter | ClinGen:CA353096404 |
single nucleotide variant | NM_004656.4(BAP1):c.2050C>T (p.Gln684Ter) | BAP1 | Pathogenic | 3 | 52436624 | 52436624 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA129103,OMIM:603089.0004 |
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 | - |
single nucleotide variant | NM_004656.4(BAP1):c.2057-2A>G | BAP1 | Likely pathogenic | 3 | 52436439 | 52436439 | T | C | criteria provided, single submitter | ClinGen:CA129101,OMIM:603089.0002 |