ClinVar Miner

Variants in gene CYP4V2 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
251 10 8 5 2 0 6 16

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 8 3 5 0 1
likely pathogenic 3 0 0 0 0
uncertain significance 5 0 0 2 0
likely benign 0 0 2 0 2
benign 1 0 0 2 0

All variants with conflicting interpretations #

Total variants: 16
Download table as spreadsheet
NM_207352.4(CYP4V2):c.1091-2A>G rs199476183
NM_207352.4(CYP4V2):c.1198C>T (p.Arg400Cys) rs138444697
NM_207352.4(CYP4V2):c.130T>A (p.Trp44Arg) rs119103282
NM_207352.4(CYP4V2):c.1328G>A (p.Arg443Gln) rs72646291
NM_207352.4(CYP4V2):c.1348C>T (p.Gln450Ter) rs199476204
NM_207352.4(CYP4V2):c.1523G>A (p.Arg508His) rs119103284
NM_207352.4(CYP4V2):c.181G>A (p.Gly61Ser) rs119103285
NM_207352.4(CYP4V2):c.237G>T (p.Glu79Asp) rs199476185
NM_207352.4(CYP4V2):c.283G>A (p.Gly95Arg) rs199476187
NM_207352.4(CYP4V2):c.332T>C (p.Ile111Thr) rs119103283
NM_207352.4(CYP4V2):c.367A>G (p.Met123Val) rs149684063
NM_207352.4(CYP4V2):c.380T>A (p.Leu127Ter) rs1228072399
NM_207352.4(CYP4V2):c.610G>A (p.Ala204Thr) rs61745524
NM_207352.4(CYP4V2):c.64C>G (p.Leu22Val) rs1055138
NM_207352.4(CYP4V2):c.802-8_810delinsGC rs207482233
NM_207352.4(CYP4V2):c.992A>C (p.His331Pro) rs199476197

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