ClinVar Miner

Variants in gene PLEKHG5 with conflicting interpretations

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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
225 47 0 17 29 0 2 43

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 0 1 0 0
likely pathogenic 0 0 1 0 0
uncertain significance 1 1 0 25 9
likely benign 0 0 25 0 17
benign 0 0 9 17 0

All variants with conflicting interpretations #

Total variants: 43
Download table as spreadsheet
HGVS dbSNP
NM_020631.4(PLEKHG5):c.1254C>G (p.Pro418=) rs139904931
NM_020631.4(PLEKHG5):c.1724C>T (p.Pro575Leu) rs77134982
NM_020631.4(PLEKHG5):c.1818C>T (p.Phe606=) rs149147021
NM_020631.4(PLEKHG5):c.1932T>C (p.Pro644=) rs150807400
NM_020631.4(PLEKHG5):c.1940T>C (p.Phe647Ser) rs63750315
NM_020631.4(PLEKHG5):c.2160G>A (p.Glu720=) rs867638588
NM_020631.4(PLEKHG5):c.2163_2168dupGGAGGA (p.Glu723_Gly724insGluGlu) rs113541584
NM_020631.4(PLEKHG5):c.2164G>A (p.Glu722Lys) rs201551894
NM_020631.4(PLEKHG5):c.2166_2168delGGA (p.Glu723del) rs113541584
NM_020631.4(PLEKHG5):c.2166_2168dupGGA (p.Glu723_Gly724insGlu) rs113541584
NM_020631.4(PLEKHG5):c.2307G>A (p.Thr769=) rs3138150
NM_020631.4(PLEKHG5):c.2331C>T (p.Ser777=) rs61749272
NM_020631.4(PLEKHG5):c.2427C>T (p.Asp809=) rs369876443
NM_020631.4(PLEKHG5):c.2428G>A (p.Gly810Ser) rs76625876
NM_020631.4(PLEKHG5):c.2433C>T (p.Arg811=) rs759272412
NM_020631.4(PLEKHG5):c.2457C>T (p.Tyr819=) rs184541137
NM_020631.4(PLEKHG5):c.2458G>A (p.Gly820Ser) rs202191898
NM_020631.4(PLEKHG5):c.2576G>A (p.Arg859His) rs61737997
NM_020631.4(PLEKHG5):c.2594A>G (p.Gln865Arg) rs3007419
NM_020631.4(PLEKHG5):c.260T>C (p.Ile87Thr) rs117505788
NM_020631.4(PLEKHG5):c.2610G>A (p.Pro870=) rs373880458
NM_020631.4(PLEKHG5):c.2634C>T (p.Ser878=) rs367560509
NM_020631.4(PLEKHG5):c.2691C>T (p.Ala897=) rs755539639
NM_020631.4(PLEKHG5):c.2827G>C (p.Gly943Arg) rs114619322
NM_020631.4(PLEKHG5):c.307G>A (p.Val103Met) rs141032388
NM_020631.4(PLEKHG5):c.30C>T (p.Asp10=) rs114209691
NM_020631.4(PLEKHG5):c.33T>C (p.Leu11=) rs144859183
NM_020631.4(PLEKHG5):c.34C>A (p.Pro12Thr) rs140687324
NM_020631.4(PLEKHG5):c.439+12C>G rs778853521
NM_020631.4(PLEKHG5):c.440-10C>T rs201656051
NM_020631.4(PLEKHG5):c.440-2A>G rs144750655
NM_020631.4(PLEKHG5):c.482T>C (p.Met161Thr) rs140817021
NM_020631.4(PLEKHG5):c.495G>A (p.Lys165=) rs150772386
NM_020631.4(PLEKHG5):c.532G>A (p.Gly178Arg) rs143484278
NM_020631.4(PLEKHG5):c.691G>A (p.Gly231Ser) rs146651455
NM_020631.4(PLEKHG5):c.753C>T (p.Ser251=) rs556687525
NM_020631.4(PLEKHG5):c.795+8G>A rs114275646
NM_020631.4(PLEKHG5):c.882C>T (p.Phe294=) rs370572859
NM_020631.4(PLEKHG5):c.88C>T (p.Arg30Cys) rs111400494
NM_020631.4(PLEKHG5):c.918C>T (p.Asp306=) rs111624565
NM_020631.4(PLEKHG5):c.928G>A (p.Asp310Asn) rs61730399
NM_020631.4(PLEKHG5):c.994C>T (p.Arg332Trp) rs140202670
NM_020631.4(PLEKHG5):c.997C>A (p.Arg333=) rs148232621

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