Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
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.1984-1G>A | BAP1 | Likely pathogenic | 3 | 52436691 | 52436691 | C | T | criteria provided, single submitter | ClinGen:CA353096404 |
Deletion | NC_000003.12:g.(?_52404447)_(52408612_?)del | BAP1 | Likely pathogenic | 3 | 52438463 | 52442628 | na | na | criteria provided, single submitter | - |
Duplication | NM_004656.4(BAP1):c.586dup (p.Trp196fs) | BAP1 | Likely pathogenic | 3 | 52440917 | 52440918 | C | CA | criteria provided, single submitter | ClinGen:CA16618001 |
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.123-1G>C | BAP1 | Likely pathogenic | 3 | 52442623 | 52442623 | C | G | criteria provided, single submitter | ClinGen:CA16611365 |
single nucleotide variant | NM_004656.4(BAP1):c.255+1G>T | BAP1 | Likely pathogenic | 3 | 52442489 | 52442489 | C | A | criteria provided, single submitter | ClinGen:CA16611358 |
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 |