ClinVar Miner

Variants in gene BBS2 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 Variants with at least 2 submissions 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 kind of conflict
113 16 0 18 8 0 4 28

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 likely pathogenic uncertain significance likely benign benign
pathogenic 0 10 3 0 0
likely pathogenic 10 0 1 0 0
uncertain significance 3 1 0 7 3
likely benign 0 0 7 0 8
benign 0 0 3 8 0

All variants with conflicting interpretations #

Total variants: 28
Download table as spreadsheet
HGVS dbSNP
NM_031885.3(BBS2):c.*13C>T rs141170836
NM_031885.3(BBS2):c.1104C>T (p.Asn368=) rs141731677
NM_031885.3(BBS2):c.118G>T (p.Val40Phe) rs886043059
NM_031885.3(BBS2):c.1237C>T (p.Arg413Ter) rs147030232
NM_031885.3(BBS2):c.1380C>T (p.Phe460=) rs141046144
NM_031885.3(BBS2):c.1413A>C (p.Val471=) rs35294865
NM_031885.3(BBS2):c.1422G>A (p.Ser474=) rs117033008
NM_031885.3(BBS2):c.1438C>T (p.Arg480Ter) rs778090540
NM_031885.3(BBS2):c.1511C>T (p.Ala504Val) rs16957538
NM_031885.3(BBS2):c.1659+3A>G rs6499838
NM_031885.3(BBS2):c.175C>T (p.Gln59Ter) rs121908176
NM_031885.3(BBS2):c.1770delT (p.Phe590Leufs) rs193922711
NM_031885.3(BBS2):c.1864C>T (p.Arg622Ter) rs201196733
NM_031885.3(BBS2):c.1910+9T>G rs751604858
NM_031885.3(BBS2):c.2079G>A (p.Gln693=) rs150797250
NM_031885.3(BBS2):c.224T>G (p.Val75Gly) rs121908174
NM_031885.3(BBS2):c.311A>C (p.Asp104Ala) rs121908179
NM_031885.3(BBS2):c.327G>A (p.Ser109=) rs770497817
NM_031885.3(BBS2):c.401C>G (p.Pro134Arg) rs376306240
NM_031885.3(BBS2):c.534+1G>T rs773862084
NM_031885.3(BBS2):c.534+7G>C rs886052149
NM_031885.3(BBS2):c.612+12C>A rs77019529
NM_031885.3(BBS2):c.661delC (p.Leu221Phefs) rs770258677
NM_031885.3(BBS2):c.72C>G (p.Tyr24Ter) rs121908175
NM_031885.3(BBS2):c.805-20A>G rs41280892
NM_031885.3(BBS2):c.865A>G (p.Ile289Val) rs150384293
NM_031885.3(BBS2):c.943C>T (p.Arg315Trp) rs121908178
NM_031885.3(BBS2):c.98C>A (p.Ala33Asp) rs797045155

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