single nucleotide variant | NM_004656.4(BAP1):c.592G>T (p.Glu198Ter) | BAP1 | Pathogenic | 3 | 52440912 | 52440912 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA353109170 |
Duplication | NM_004656.4(BAP1):c.592dup (p.Glu198fs) | BAP1 | Pathogenic/Likely pathogenic | 3 | 52440911 | 52440912 | T | TC | criteria provided, multiple submitters, no conflicts | ClinGen:CA16618000 |
Duplication | NM_004656.4(BAP1):c.639dup (p.Ile214fs) | BAP1 | Pathogenic | 3 | 52440864 | 52440865 | T | TA | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_004656.4(BAP1):c.644del (p.Gly215fs) | BAP1 | Pathogenic | 3 | 52440860 | 52440860 | GC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA16611441 |
Deletion | NM_004656.4(BAP1):c.659+1del | BAP1 | Likely pathogenic | 3 | 52440844 | 52440844 | AC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16617999 |
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 | - |
Duplication | NM_004656.4(BAP1):c.706dup (p.Asp236fs) | BAP1 | Pathogenic | 3 | 52440345 | 52440346 | T | TC | criteria provided, single submitter | - |
single nucleotide variant | NM_004656.4(BAP1):c.757C>T (p.Gln253Ter) | BAP1 | Pathogenic | 3 | 52440295 | 52440295 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA353107109 |
Duplication | NM_004656.4(BAP1):c.758dup (p.Thr254fs) | BAP1 | Pathogenic | 3 | 52440293 | 52440294 | C | CT | criteria provided, single submitter | ClinGen:CA658657313 |
Insertion | NM_004656.4(BAP1):c.771_772insTACTA (p.Ala258delinsTyrTer) | BAP1 | Pathogenic | 3 | 52440280 | 52440281 | C | CTAGTA | criteria provided, multiple submitters, no conflicts | ClinGen:CA658657312 |