ClinVar Miner

Variants in gene KIF5A 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
237 23 0 16 7 0 2 23

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 2 1 0 0
likely pathogenic 2 0 1 0 0
uncertain significance 1 1 0 7 2
likely benign 0 0 7 0 14
benign 0 0 2 14 0

All variants with conflicting interpretations #

Total variants: 23
Download table as spreadsheet
HGVS dbSNP
NM_004984.4(KIF5A):c.1105C>T (p.Arg369Trp) rs140929639
NM_004984.4(KIF5A):c.1150G>C (p.Gly384Arg) rs143326964
NM_004984.4(KIF5A):c.1293+9G>A rs201749114
NM_004984.4(KIF5A):c.1311A>G (p.Gln437=) rs770297402
NM_004984.4(KIF5A):c.1419G>A (p.Leu473=) rs139091551
NM_004984.4(KIF5A):c.2040G>A (p.Val680=) rs117670788
NM_004984.4(KIF5A):c.2199-4G>A rs201366820
NM_004984.4(KIF5A):c.2272G>A (p.Glu758Lys) rs140281678
NM_004984.4(KIF5A):c.2314C>T (p.Arg772Ter) rs1555178616
NM_004984.4(KIF5A):c.2418G>A (p.Thr806=) rs113155897
NM_004984.4(KIF5A):c.2538+8T>G rs377005699
NM_004984.4(KIF5A):c.2769G>A (p.Arg923=) rs35225609
NM_004984.4(KIF5A):c.2839A>G (p.Thr947Ala) rs150672943
NM_004984.4(KIF5A):c.2927C>T (p.Thr976Ile) rs139801016
NM_004984.4(KIF5A):c.2957C>G (p.Pro986Arg) rs113247976
NM_004984.4(KIF5A):c.2957C>T (p.Pro986Leu) rs113247976
NM_004984.4(KIF5A):c.471C>T (p.His157=) rs143178113
NM_004984.4(KIF5A):c.714+8G>A rs199624091
NM_004984.4(KIF5A):c.750C>T (p.Asp250=) rs375693647
NM_004984.4(KIF5A):c.820-19G>T rs181688415
NM_004984.4(KIF5A):c.827A>G (p.Tyr276Cys) rs121434443
NM_004984.4(KIF5A):c.838C>T (p.Arg280Cys) rs121434442
NM_004984.4(KIF5A):c.839G>A (p.Arg280His) rs387907288

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.