ClinVar Miner

Variants in gene KNL1 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
169 19 0 10 16 0 2 26

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 14 3
likely benign 0 0 14 0 10
benign 0 0 3 10 0

All variants with conflicting interpretations #

Total variants: 26
Download table as spreadsheet
HGVS dbSNP
NM_144508.5(KNL1):c.1129A>G (p.Ile377Val) rs144726295
NM_144508.5(KNL1):c.1233G>C (p.Met411Ile) rs116093409
NM_144508.5(KNL1):c.1299T>C (p.Cys433=) rs35235972
NM_144508.5(KNL1):c.1493T>A (p.Ile498Asn) rs59648663
NM_144508.5(KNL1):c.165C>T (p.Asn55=) rs201818761
NM_144508.5(KNL1):c.1768G>T (p.Ala590Ser) rs201334214
NM_144508.5(KNL1):c.2014A>C (p.Ile672Leu) rs73394756
NM_144508.5(KNL1):c.2268A>G (p.Ser756=) rs202012571
NM_144508.5(KNL1):c.2311G>A (p.Val771Ile) rs151288115
NM_144508.5(KNL1):c.2369C>G (p.Thr790Ser) rs33931006
NM_144508.5(KNL1):c.251-7T>A rs555296963
NM_144508.5(KNL1):c.251-9T>C rs371294019
NM_144508.5(KNL1):c.2815A>T (p.Met939Leu) rs145740834
NM_144508.5(KNL1):c.2949A>G (p.Leu983=) rs201182330
NM_144508.5(KNL1):c.3573A>G (p.Ile1191Met) rs200222327
NM_144508.5(KNL1):c.4231G>A (p.Gly1411Arg) rs150569450
NM_144508.5(KNL1):c.4379T>C (p.Ile1460Thr) rs187007187
NM_144508.5(KNL1):c.4772A>G (p.Asn1591Ser) rs200656662
NM_144508.5(KNL1):c.4931A>G (p.Lys1644Arg) rs76098847
NM_144508.5(KNL1):c.5271C>T (p.Cys1757=) rs191249840
NM_144508.5(KNL1):c.5631C>T (p.Leu1877=) rs201853975
NM_144508.5(KNL1):c.6034A>G (p.Ile2012Val) rs74970544
NM_144508.5(KNL1):c.6212+5G>A rs115900739
NM_144508.5(KNL1):c.6482A>G (p.Asp2161Gly) rs142872154
NM_144508.5(KNL1):c.727A>G (p.Ile243Val) rs76371152
NM_144508.5(KNL1):c.812C>G (p.Thr271Ser) rs201037775

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