ClinVar Miner

Variants in gene NEK1 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 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
142 8 0 14 9 2 4 24

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 risk factor other
pathogenic 0 3 0 0 0 1 1
likely pathogenic 3 0 3 2 2 1 0
uncertain significance 0 3 0 8 3 0 0
likely benign 0 2 8 0 11 0 0
benign 0 2 3 11 0 0 0
risk factor 1 1 0 0 0 0 0
other 1 0 0 0 0 0 0

All variants with conflicting interpretations #

Total variants: 24
Download table as spreadsheet
HGVS dbSNP
NM_001199398.2(NEK1):c.1558_1559del (p.Met520fs) rs786205645
NM_012224.3(NEK1):c.1021G>A (p.Ala341Thr) rs189186475
NM_012224.3(NEK1):c.1081-15dup rs398124255
NM_012224.3(NEK1):c.1137T>A (p.Asp379Glu) rs372585344
NM_012224.3(NEK1):c.1146T>C (p.Ile382=) rs56064008
NM_012224.3(NEK1):c.1388C>T (p.Ala463Val) rs34540355
NM_012224.3(NEK1):c.1581T>C (p.Ala527=) rs184804243
NM_012224.3(NEK1):c.1705T>A (p.Phe569Ile) rs776098853
NM_012224.3(NEK1):c.1746A>G (p.Glu582=) rs17544885
NM_012224.3(NEK1):c.1792G>A (p.Ala598Thr) rs33933790
NM_012224.3(NEK1):c.2053G>A (p.Val685Met) rs199827465
NM_012224.3(NEK1):c.214+1G>A rs1049502301
NM_012224.3(NEK1):c.2151T>G (p.Asn717Lys) rs34324114
NM_012224.3(NEK1):c.2337C>T (p.Phe779=) rs56346829
NM_012224.3(NEK1):c.2680+12T>A rs77658514
NM_012224.3(NEK1):c.2726_2729CAAA[1] (p.Asn910fs) rs752878896
NM_012224.3(NEK1):c.2949G>A (p.Pro983=) rs7655924
NM_012224.3(NEK1):c.3023C>G (p.Ser1008Ter) rs199947197
NM_012224.3(NEK1):c.3327G>A (p.Leu1109=) rs56077602
NM_012224.3(NEK1):c.3538G>A (p.Asp1180Asn) rs35503975
NM_012224.3(NEK1):c.594A>G (p.Thr198=) rs373252814
NM_012224.3(NEK1):c.607-3T>C rs55679731
NM_012224.3(NEK1):c.695G>A (p.Arg232His) rs772747361
NM_012224.3(NEK1):c.782G>A (p.Arg261His) rs200161705

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