ClinVar Miner

Variants in gene FKTN 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
188 97 1 19 27 0 5 47

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 7 4 0 0
likely pathogenic 7 0 2 0 0
uncertain significance 4 2 1 22 8
likely benign 0 0 22 0 12
benign 0 0 8 12 0

All variants with conflicting interpretations #

Total variants: 47
Download table as spreadsheet
HGVS dbSNP
NM_006731.2(FKTN):c.*4825T>C rs115155934
NM_006731.2(FKTN):c.-88-1200del rs727502845
NM_006731.2(FKTN):c.-88-1206T>C rs151250905
NM_006731.2(FKTN):c.1023G>A (p.Pro341=) rs146967918
NM_006731.2(FKTN):c.1026C>A (p.Leu342=) rs17309806
NM_006731.2(FKTN):c.1045-40C>A rs145883833
NM_006731.2(FKTN):c.106-10G>A rs148384394
NM_006731.2(FKTN):c.1106del (p.Phe369fs) rs750176716
NM_006731.2(FKTN):c.1112A>G (p.Tyr371Cys) rs119464998
NM_006731.2(FKTN):c.1158A>G (p.Thr386=) rs886044528
NM_006731.2(FKTN):c.1228C>A (p.His410Asn) rs146272618
NM_006731.2(FKTN):c.1297A>G (p.Thr433Ala) rs141918432
NM_006731.2(FKTN):c.1315_1316TC[3] (p.Pro440fs) rs886042778
NM_006731.2(FKTN):c.1336A>G (p.Asn446Asp) rs41313301
NM_006731.2(FKTN):c.1337A>T (p.Asn446Ile) rs374912618
NM_006731.2(FKTN):c.1371_1381dup (p.Tyr461fs) rs727502847
NM_006731.2(FKTN):c.166-4A>G rs193922689
NM_006731.2(FKTN):c.166-6A>G rs41277795
NM_006731.2(FKTN):c.166C>T (p.Arg56Cys) rs41277797
NM_006731.2(FKTN):c.167G>A (p.Arg56His) rs146951171
NM_006731.2(FKTN):c.180A>G (p.Lys60=) rs886042513
NM_006731.2(FKTN):c.198C>G (p.Ser66=) rs367868644
NM_006731.2(FKTN):c.207T>C (p.Asn69=)
NM_006731.2(FKTN):c.21C>T (p.Asn7=) rs564632018
NM_006731.2(FKTN):c.30G>A (p.Leu10=) rs202047149
NM_006731.2(FKTN):c.330dup (p.Thr111fs) rs767865405
NM_006731.2(FKTN):c.333T>C (p.Thr111=) rs141729611
NM_006731.2(FKTN):c.340G>A (p.Ala114Thr) rs119463995
NM_006731.2(FKTN):c.342A>G (p.Ala114=) rs368598407
NM_006731.2(FKTN):c.357A>G (p.Leu119=) rs760933616
NM_006731.2(FKTN):c.373G>A (p.Gly125Ser) rs34006675
NM_006731.2(FKTN):c.402A>T (p.Gly134=) rs780921233
NM_006731.2(FKTN):c.411C>A (p.Cys137Ter) rs537001725
NM_006731.2(FKTN):c.411C>T (p.Cys137=) rs537001725
NM_006731.2(FKTN):c.42del (p.Thr14_Leu15insTer) rs1309132512
NM_006731.2(FKTN):c.536G>C (p.Arg179Thr) rs119463994
NM_006731.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999
NM_006731.2(FKTN):c.63G>C (p.Leu21=) rs766642997
NM_006731.2(FKTN):c.642dup (p.Asp215Ter) rs398123557
NM_006731.2(FKTN):c.668C>T (p.Thr223Ile) rs116105846
NM_006731.2(FKTN):c.681G>A (p.Leu227=) rs142604625
NM_006731.2(FKTN):c.748T>C (p.Cys250Arg) rs398123558
NM_006731.2(FKTN):c.766C>A (p.Arg256=) rs377417974
NM_006731.2(FKTN):c.781-9T>C rs370564232
NM_006731.2(FKTN):c.869A>T (p.Lys290Ile) rs755092516
NM_006731.2(FKTN):c.910+14G>A rs76180538
NM_006731.2(FKTN):c.911-8C>A rs749557617

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