ClinVar Miner

Variants in gene SKI 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
344 45 0 26 12 0 3 38

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 3 1 0 0
likely pathogenic 3 0 2 0 0
uncertain significance 1 2 0 11 4
likely benign 0 0 11 0 23
benign 0 0 4 23 0

All variants with conflicting interpretations #

Total variants: 38
Download table as spreadsheet
NM_003036.4(SKI):c.100G>A (p.Gly34Ser) rs387907306
NM_003036.4(SKI):c.103C>T (p.Pro35Ser) rs397514590
NM_003036.4(SKI):c.104C>A (p.Pro35Gln) rs397514589
NM_003036.4(SKI):c.104C>G (p.Pro35Arg) rs397514589
NM_003036.4(SKI):c.1163C>T (p.Ala388Val) rs75280988
NM_003036.4(SKI):c.1196C>T (p.Ala399Val) rs141862996
NM_003036.4(SKI):c.1211+19C>T rs182600375
NM_003036.4(SKI):c.1212-8C>T rs370921440
NM_003036.4(SKI):c.1258G>A (p.Ala420Thr) rs771862077
NM_003036.4(SKI):c.1272G>A (p.Pro424=) rs552946737
NM_003036.4(SKI):c.1309G>A (p.Ala437Thr) rs544709718
NM_003036.4(SKI):c.1338C>T (p.Leu446=) rs148632347
NM_003036.4(SKI):c.1384C>G (p.Pro462Ala) rs199797772
NM_003036.4(SKI):c.1440G>A (p.Ser480=) rs185754530
NM_003036.4(SKI):c.1527C>T (p.Ser509=) rs111935632
NM_003036.4(SKI):c.1568C>T (p.Ser523Leu) rs730880212
NM_003036.4(SKI):c.1593T>C (p.Pro531=) rs144279718
NM_003036.4(SKI):c.1632C>T (p.His544=) rs373914574
NM_003036.4(SKI):c.1734C>T (p.Ser578=) rs117443908
NM_003036.4(SKI):c.1834C>T (p.Leu612=) rs35833638
NM_003036.4(SKI):c.1851G>A (p.Glu617=) rs146789646
NM_003036.4(SKI):c.1890C>T (p.Ala630=) rs773151547
NM_003036.4(SKI):c.2007C>G (p.Asp669Glu) rs750838146
NM_003036.4(SKI):c.2058C>T (p.Ala686=) rs1171554207
NM_003036.4(SKI):c.216C>T (p.Pro72=) rs756778048
NM_003036.4(SKI):c.2183C>T (p.Pro728Leu) rs372950890
NM_003036.4(SKI):c.2184G>C (p.Pro728=) rs543584871
NM_003036.4(SKI):c.347G>A (p.Gly116Glu) rs387907303
NM_003036.4(SKI):c.360C>T (p.Arg120=) rs375024753
NM_003036.4(SKI):c.417C>T (p.Ile139=) rs144874401
NM_003036.4(SKI):c.471G>A (p.Gln157=) rs569206617
NM_003036.4(SKI):c.516C>T (p.Pro172=) rs182513685
NM_003036.4(SKI):c.539C>T (p.Thr180Met) rs863223722
NM_003036.4(SKI):c.798C>T (p.Ala266=) rs149642284
NM_003036.4(SKI):c.799C>T (p.Leu267=) rs140178396
NM_003036.4(SKI):c.897C>T (p.Arg299=) rs773901705
NM_003036.4(SKI):c.948G>A (p.Lys316=) rs368128582
NM_003036.4(SKI):c.970-7A>G rs199634070

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