Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | NM_004656.4(BAP1):c.91del (p.Glu31fs) | BAP1 | Pathogenic | 3 | 52443601 | 52443601 | TC | T | criteria provided, single submitter | ClinGen:CA658796336 |
Duplication | NM_004656.4(BAP1):c.79dup (p.Val27fs) | BAP1 | Pathogenic | 3 | 52443612 | 52443613 | A | AC | criteria provided, multiple submitters, no conflicts | ClinGen:CA658657316 |
Deletion | NM_004656.4(BAP1):c.65del (p.Phe22fs) | BAP1 | Pathogenic | 3 | 52443732 | 52443732 | GA | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA16611368 |
single nucleotide variant | NM_004656.4(BAP1):c.38-1G>A | BAP1 | Likely pathogenic | 3 | 52443760 | 52443760 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA353115002 |
single nucleotide variant | NM_004656.4(BAP1):c.37+1G>T | BAP1 | Likely pathogenic | 3 | 52443857 | 52443857 | C | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_004656.4(BAP1):c.15G>A (p.Trp5Ter) | BAP1 | Pathogenic | 3 | 52443880 | 52443880 | C | T | criteria provided, single submitter | - |
Deletion | NM_004656.4(BAP1):c.11del (p.Gly4fs) | BAP1 | Pathogenic | 3 | 52443884 | 52443884 | GC | G | criteria provided, single submitter | - |
Deletion | NC_000003.11:g.(?_52436298)_(52443900_?)del | BAP1 | Pathogenic | 3 | 52436298 | 52443900 | na | na | criteria provided, single submitter | - |