ClinVar Miner

Variants in gene BAP1 with conflicting interpretations

Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
1024 183 0 18 25 0 2 40

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic uncertain significance likely benign benign
pathogenic 0 2 0 0
uncertain significance 2 0 24 4
likely benign 0 24 0 18
benign 0 4 18 0

All variants with conflicting interpretations #

Total variants: 40
Download table as spreadsheet
HGVS dbSNP
NM_004656.4(BAP1):c.1002A>G (p.Leu334=) rs28997577
NM_004656.4(BAP1):c.1026C>T (p.Ser342=) rs71651686
NM_004656.4(BAP1):c.1035G>C (p.Gly345=) rs369744075
NM_004656.4(BAP1):c.1202_1203del (p.Asp400_Tyr401insTer) rs886058705
NM_004656.4(BAP1):c.1203T>G (p.Tyr401Ter) rs200156887
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.1291G>A (p.Gly431Ser) rs915913191
NM_004656.4(BAP1):c.1330A>G (p.Thr444Ala) rs374746213
NM_004656.4(BAP1):c.1338C>T (p.Asn446=) rs763735807
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.1729+8T>C rs150945583
NM_004656.4(BAP1):c.1735G>A (p.Gly579Arg) rs370004702
NM_004656.4(BAP1):c.1749G>A (p.Ser583=) rs147775249
NM_004656.4(BAP1):c.177G>A (p.Arg59=) rs770446947
NM_004656.4(BAP1):c.1838C>T (p.Thr613Met) rs35448940
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.1962A>C (p.Val654=) rs148624125
NM_004656.4(BAP1):c.2057-4G>T rs149499021
NM_004656.4(BAP1):c.2057-5C>T rs770925902
NM_004656.4(BAP1):c.2118C>A (p.Ile706=) rs201122466
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.519T>C (p.Tyr173=) rs143901408
NM_004656.4(BAP1):c.534C>T (p.Gly178=) rs200285587
NM_004656.4(BAP1):c.581-4C>T rs1578225974
NM_004656.4(BAP1):c.651C>T (p.Ala217=) rs202170860
NM_004656.4(BAP1):c.67+5G>C rs1033651300
NM_004656.4(BAP1):c.783G>A (p.Gln261=) rs35003777
NM_004656.4(BAP1):c.821A>C (p.His274Pro) rs565400314
NM_004656.4(BAP1):c.869A>G (p.Asn290Ser) rs747079481
NM_004656.4(BAP1):c.878C>T (p.Pro293Leu) rs777664260
NM_004656.4(BAP1):c.905C>T (p.Pro302Leu) rs149158790
NM_004656.4(BAP1):c.908C>T (p.Ala303Val) rs753460994
NM_004656.4(BAP1):c.947C>T (p.Ala316Val) rs1365625070
NM_004656.4(BAP1):c.960C>T (p.Cys320=) rs143659795

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