single nucleotide variant | NM_004656.4(BAP1):c.778C>T (p.Gln260Ter) | BAP1 | Pathogenic | 3 | 52440274 | 52440274 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA349297 |
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.799C>T (p.Gln267Ter) | BAP1 | Pathogenic | 3 | 52439913 | 52439913 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA129106,OMIM:603089.0007 |
Deletion | NM_004656.4(BAP1):c.824del (p.Lys275fs) | BAP1 | Pathogenic | 3 | 52439888 | 52439888 | CT | C | criteria provided, single submitter | - |
Duplication | NM_004656.4(BAP1):c.831dup (p.Glu278fs) | BAP1 | Pathogenic | 3 | 52439880 | 52439881 | C | CT | criteria provided, multiple submitters, no conflicts | ClinGen:CA658796334 |
Duplication | NM_004656.4(BAP1):c.837dup (p.Gln280fs) | BAP1 | Pathogenic | 3 | 52439874 | 52439875 | G | GT | criteria provided, multiple submitters, no conflicts | ClinGen:CA658796333 |
Duplication | NM_004656.4(BAP1):c.855dup (p.Lys286fs) | BAP1 | Pathogenic | 3 | 52439856 | 52439857 | T | TG | 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 | - |
single nucleotide variant | NM_004656.4(BAP1):c.932-2A>T | BAP1 | Likely pathogenic | 3 | 52439312 | 52439312 | T | A | criteria provided, single submitter | - |
single nucleotide variant | NM_004656.4(BAP1):c.956C>G (p.Ser319Ter) | BAP1 | Pathogenic | 3 | 52439286 | 52439286 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA353106260 |