Deletion | NC_000003.12:g.(?_52404447)_(52408612_?)del | BAP1 | Likely pathogenic | 3 | 52438463 | 52442628 | na | na | criteria provided, single submitter | - |
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 |
Duplication | NM_004656.4(BAP1):c.127dup (p.Val43fs) | BAP1 | Pathogenic | 3 | 52442617 | 52442618 | A | AC | criteria provided, single submitter | ClinGen:CA658683360 |
single nucleotide variant | NM_004656.4(BAP1):c.155G>A (p.Trp52Ter) | BAP1 | Pathogenic | 3 | 52442590 | 52442590 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_004656.4(BAP1):c.178C>T (p.Arg60Ter) | BAP1 | Pathogenic | 3 | 52442567 | 52442567 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_004656.4(BAP1):c.181A>T (p.Lys61Ter) | BAP1 | Pathogenic | 3 | 52442564 | 52442564 | T | A | criteria provided, single submitter | ClinGen:CA16611360 |
Deletion | NM_004656.4(BAP1):c.254_255+15del | BAP1 | Likely pathogenic | 3 | 52442475 | 52442491 | ACAGAGTCCAGCAGACCT | A | criteria provided, single submitter | - |
single nucleotide variant | NM_004656.4(BAP1):c.255+1G>A | BAP1 | Likely pathogenic | 3 | 52442489 | 52442489 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA353112834 |
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.375+1G>T | BAP1 | Likely pathogenic | 3 | 52441973 | 52441973 | C | A | criteria provided, single submitter | - |