ClinVar Miner

Variants in gene HMGCS2 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 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
54 3 0 5 8 0 3 14

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 2 2 0 0
likely pathogenic 2 0 2 0 0
uncertain significance 2 2 0 7 2
likely benign 0 0 7 0 3
benign 0 0 2 3 0

All variants with conflicting interpretations #

Total variants: 14
Download table as spreadsheet
NM_005518.3(HMGCS2):c.-11C>T rs2289459
NM_005518.3(HMGCS2):c.1124C>G (p.Ser375Cys) rs151328418
NM_005518.3(HMGCS2):c.1270C>T (p.Arg424Ter) rs137852637
NM_005518.3(HMGCS2):c.1419G>A (p.Lys473=) rs142776952
NM_005518.3(HMGCS2):c.1499G>A (p.Arg500His) rs137852639
NM_005518.3(HMGCS2):c.174C>T (p.Ala58=) rs138739620
NM_005518.3(HMGCS2):c.270G>A (p.Gln90=) rs41302817
NM_005518.3(HMGCS2):c.346C>T (p.Arg116Cys) rs200607527
NM_005518.3(HMGCS2):c.621C>T (p.Pro207=) rs886045207
NM_005518.3(HMGCS2):c.634G>A (p.Gly212Arg) rs137852638
NM_005518.3(HMGCS2):c.73C>G (p.Pro25Ala) rs144744634
NM_005518.3(HMGCS2):c.851-14G>A rs188523700
NM_005518.3(HMGCS2):c.858C>T (p.Ser286=) rs1992376
NM_005518.3(HMGCS2):c.862C>A (p.Arg288=) rs142637231

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