ClinVar Miner

Variants in gene BAP1 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 32
Download table as spreadsheet
HGVS dbSNP
NM_004656.4(BAP1):c.1020C>T (p.Gly340=) rs1553645312
NM_004656.4(BAP1):c.1035G>C (p.Gly345=) rs369744075
NM_004656.4(BAP1):c.1117-5C>T rs771441619
NM_004656.4(BAP1):c.1131G>A (p.Leu377=) rs572089064
NM_004656.4(BAP1):c.1212C>G (p.Asp404Glu) rs140998455
NM_004656.4(BAP1):c.121G>A (p.Gly41Ser) rs372586694
NM_004656.4(BAP1):c.1227G>C (p.Val409=) rs201203425
NM_004656.4(BAP1):c.1290C>T (p.Ser430=) rs773592865
NM_004656.4(BAP1):c.1330A>G (p.Thr444Ala) rs374746213
NM_004656.4(BAP1):c.1407C>T (p.Ser469=) rs150524807
NM_004656.4(BAP1):c.1408G>A (p.Gly470Arg) rs576538858
NM_004656.4(BAP1):c.1427T>C (p.Val476Ala) rs144060813
NM_004656.4(BAP1):c.1497C>T (p.Ile499=) rs777417522
NM_004656.4(BAP1):c.1727C>T (p.Thr576Ile) rs374920141
NM_004656.4(BAP1):c.1735G>A (p.Gly579Arg) rs370004702
NM_004656.4(BAP1):c.177G>A (p.Arg59=) rs770446947
NM_004656.4(BAP1):c.1791C>T (p.Ser597=) rs751730111
NM_004656.4(BAP1):c.186C>T (p.Val62=) rs199608453
NM_004656.4(BAP1):c.1931C>T (p.Ala644Val) rs551399575
NM_004656.4(BAP1):c.1946G>A (p.Cys649Tyr) rs151308667
NM_004656.4(BAP1):c.1983+6T>C rs1553644657
NM_004656.4(BAP1):c.2175G>A (p.Lys725=) rs760537008
NM_004656.4(BAP1):c.2189G>A (p.Ter730=) rs771713346
NM_004656.4(BAP1):c.341G>A (p.Arg114His) rs773494626
NM_004656.4(BAP1):c.375+4G>A rs371114912
NM_004656.4(BAP1):c.376-4G>A rs369277958
NM_004656.4(BAP1):c.38-11G>A rs768279336
NM_004656.4(BAP1):c.405G>A (p.Pro135=) rs768046980
NM_004656.4(BAP1):c.581-6C>T rs754576458
NM_004656.4(BAP1):c.660-10G>A rs749460317
NM_004656.4(BAP1):c.821A>C (p.His274Pro) rs565400314
NM_004656.4(BAP1):c.905C>T (p.Pro302Leu) rs149158790

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.