ClinVar Miner

Variants in gene FBXL4 with conflicting interpretations

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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
487 47 0 19 4 0 6 28

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 14 1 0 0
likely pathogenic 14 0 5 0 0
uncertain significance 1 5 0 4 0
likely benign 0 0 4 0 5
benign 0 0 0 5 0

All variants with conflicting interpretations #

Total variants: 28
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001278716.2(FBXL4):c.978A>G (p.Gln326=) rs61744041 0.00506
NM_001278716.2(FBXL4):c.1317+14A>G rs182139048 0.00082
NM_001278716.2(FBXL4):c.737T>C (p.Ile246Thr) rs143154211 0.00076
NM_001278716.2(FBXL4):c.1251A>G (p.Gln417=) rs151258576 0.00043
NM_001278716.2(FBXL4):c.79A>G (p.Thr27Ala) rs142853738 0.00024
NM_001278716.2(FBXL4):c.541A>G (p.Thr181Ala) rs150748757 0.00021
NM_001278716.2(FBXL4):c.1232G>A (p.Cys411Tyr) rs773850151 0.00014
NM_001278716.2(FBXL4):c.1126G>A (p.Glu376Lys) rs745512025 0.00010
NM_001278716.2(FBXL4):c.616C>T (p.Arg206Ter) rs964532159 0.00006
NM_001278716.2(FBXL4):c.1135C>T (p.Arg379Cys) rs778692687 0.00005
NM_001278716.2(FBXL4):c.64C>T (p.Arg22Ter) rs200440128 0.00005
NM_001278716.2(FBXL4):c.1288C>T (p.Arg430Ter) rs758395213 0.00003
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp) rs398123061 0.00003
NM_001278716.2(FBXL4):c.1304G>A (p.Arg435Gln) rs754142863 0.00002
NM_001278716.2(FBXL4):c.766G>A (p.Gly256Ser) rs765912815 0.00002
NM_001278716.2(FBXL4):c.1790A>C (p.Gln597Pro) rs201989042 0.00001
NM_001278716.2(FBXL4):c.292C>T (p.Arg98Ter) rs1554222130 0.00001
NM_001278716.2(FBXL4):c.419T>C (p.Val140Ala) rs1057519447 0.00001
NM_001278716.2(FBXL4):c.1067del (p.Gly356fs) rs1554219474
NM_001278716.2(FBXL4):c.1103+30del rs377101732
NM_001278716.2(FBXL4):c.1652T>A (p.Ile551Asn) rs1554215979
NM_001278716.2(FBXL4):c.1694A>G (p.Asp565Gly) rs398123062
NM_001278716.2(FBXL4):c.1698A>G (p.Ile566Met) rs1554215959
NM_001278716.2(FBXL4):c.1703-36TGTTT[6] rs377666976
NM_001278716.2(FBXL4):c.1703G>C (p.Gly568Ala) rs398123060
NM_001278716.2(FBXL4):c.1772A>C (p.Asp591Ala) rs747618415
NM_001278716.2(FBXL4):c.219T>A (p.Tyr73Ter) rs747536886
NM_001278716.2(FBXL4):c.486T>A (p.Tyr162Ter) rs1562245046

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