List of variants in gene BAP1 reported as likely pathogenic for BAP1-related tumor predisposition syndrome

Minimum submission review status:		Collection method:
Minimum conflict level:
Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 20

Download table as spreadsheet

HGVS	dbSNP
NC_000003.11:g.(?_52438463)_(52442628_?)del
NC_000003.11:g.(?_52439116)_(52439938_?)del
NM_004656.3(BAP1):c.68-2_68-1ins22
NM_004656.4(BAP1):c.122+1G>A
NM_004656.4(BAP1):c.123-1G>C	rs1060503732
NM_004656.4(BAP1):c.1251-1G>A
NM_004656.4(BAP1):c.1730-1G>A	rs1559586168
NM_004656.4(BAP1):c.1984-1G>A	rs1553644634
NM_004656.4(BAP1):c.1984-3_1999del
NM_004656.4(BAP1):c.254_255+15del	rs1559591511
NM_004656.4(BAP1):c.255+1G>T	rs1060503750
NM_004656.4(BAP1):c.37+1G>T	rs1559593339
NM_004656.4(BAP1):c.375+1G>T
NM_004656.4(BAP1):c.437+1G>T	rs1553645838
NM_004656.4(BAP1):c.580+1G>A	rs1553645785
NM_004656.4(BAP1):c.581-1G>A	rs1553645729
NM_004656.4(BAP1):c.581-1G>T	rs1553645729
NM_004656.4(BAP1):c.660-2A>G	rs1559589809
NM_004656.4(BAP1):c.783+2T>C	rs774730309
NM_004656.4(BAP1):c.932-2A>T

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.