ClinVar Miner

Variants in gene SH3BP2 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
322 15 0 6 16 0 1 21

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 1 0 1 1
likely pathogenic 1 0 0 0 0
uncertain significance 0 0 0 7 10
likely benign 1 0 7 0 5
benign 1 0 10 5 0

All variants with conflicting interpretations #

Total variants: 21
Download table as spreadsheet
NM_001122681.2(SH3BP2):c.1123G>A (p.Gly375Arg) rs375094936
NM_001122681.2(SH3BP2):c.1141G>A (p.Val381Met) rs201966956
NM_001122681.2(SH3BP2):c.1151G>A (p.Arg384Gln) rs143129053
NM_001122681.2(SH3BP2):c.1243C>T (p.Arg415Ter) rs141262371
NM_001122681.2(SH3BP2):c.1253C>T (p.Pro418Leu) rs121909146
NM_001122681.2(SH3BP2):c.1367C>T (p.Ser456Leu) rs199818232
NM_001122681.2(SH3BP2):c.1462C>T (p.Arg488Trp) rs373554386
NM_001122681.2(SH3BP2):c.1514C>G (p.Ser505Cys) rs144577122
NM_001122681.2(SH3BP2):c.1655G>A (p.Arg552Gln) rs374608155
NM_001122681.2(SH3BP2):c.1686A>G (p.Ter562Trp) rs190648042
NM_001122681.2(SH3BP2):c.239G>A (p.Arg80Gln) rs147432096
NM_001122681.2(SH3BP2):c.34A>G (p.Met12Val) rs148117486
NM_001122681.2(SH3BP2):c.440C>T (p.Ser147Leu) rs150461713
NM_001122681.2(SH3BP2):c.441G>A (p.Ser147=) rs145235325
NM_001122681.2(SH3BP2):c.472C>T (p.Arg158Trp) rs200463050
NM_001122681.2(SH3BP2):c.497C>T (p.Pro166Leu) rs567769591
NM_001122681.2(SH3BP2):c.517+5G>A rs367984149
NM_001122681.2(SH3BP2):c.585G>A (p.Glu195=) rs200156713
NM_001122681.2(SH3BP2):c.656A>T (p.Asp219Val) rs150572069
NM_001122681.2(SH3BP2):c.78C>T (p.Gly26=)
NM_001122681.2(SH3BP2):c.937G>A (p.Gly313Arg) rs141518457

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