Deletion | NM_004656.4(BAP1):c.1464del (p.Ser489fs) | BAP1 | Pathogenic | 3 | 52437697 | 52437697 | TG | T | criteria provided, single submitter | ClinGen:CA645529912 |
Duplication | NM_004656.4(BAP1):c.1695dup (p.Glu566Ter) | BAP1 | Pathogenic | 3 | 52437465 | 52437466 | C | CA | criteria provided, multiple submitters, no conflicts | ClinGen:CA658657307 |
Deletion | NM_004656.4(BAP1):c.1717del (p.Leu573fs) | BAP1 | Pathogenic | 3 | 52437444 | 52437444 | AG | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA351499,OMIM:603089.0005,OMIM:603089.0015 |
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.1729+1del | BAP1 | Pathogenic | 3 | 52437431 | 52437431 | AC | A | criteria provided, single submitter | - |
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.1777C>T (p.Gln593Ter) | BAP1 | Pathogenic | 3 | 52437267 | 52437267 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16617996 |
Deletion | NM_004656.4(BAP1):c.1835del (p.Lys612fs) | BAP1 | Pathogenic | 3 | 52437209 | 52437209 | CT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA16611329 |
Deletion | NM_004656.4(BAP1):c.1882_1885del (p.Ser628fs) | BAP1 | Pathogenic | 3 | 52437159 | 52437162 | GGTGA | G | criteria provided, multiple submitters, no conflicts | OMIM:603089.0006 |
Duplication | NM_004656.4(BAP1):c.1896_1900dup (p.Ala634fs) | BAP1 | Pathogenic | 3 | 52436877 | 52436878 | G | GCCAGC | criteria provided, single submitter | - |