ClinVar Miner

Variants in gene HSD17B4 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
154 29 0 15 11 0 7 31

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 5 3 0 0
likely pathogenic 5 0 4 0 0
uncertain significance 3 4 0 9 4
likely benign 0 0 9 0 10
benign 0 0 4 10 0

All variants with conflicting interpretations #

Total variants: 31
Download table as spreadsheet
HGVS dbSNP
NM_000414.3(HSD17B4):c.*6A>G rs111671384
NM_000414.3(HSD17B4):c.-27G>C rs34604765
NM_000414.3(HSD17B4):c.-28C>T rs34353289
NM_000414.3(HSD17B4):c.101C>T (p.Ala34Val) rs587777442
NM_000414.3(HSD17B4):c.1059G>A (p.Ala353=) rs57972893
NM_000414.3(HSD17B4):c.1210-8T>C rs34254740
NM_000414.3(HSD17B4):c.1280C>T (p.Ala427Val) rs28943590
NM_000414.3(HSD17B4):c.1317A>G (p.Val439=) rs771922933
NM_000414.3(HSD17B4):c.1369A>T (p.Asn457Tyr) rs137853097
NM_000414.3(HSD17B4):c.1471G>A (p.Ala491Thr) rs28943591
NM_000414.3(HSD17B4):c.1516C>T (p.Arg506Cys) rs766199971
NM_000414.3(HSD17B4):c.1528G>A (p.Asp510Asn) rs191468413
NM_000414.3(HSD17B4):c.1538C>T (p.Pro513Leu) rs587777444
NM_000414.3(HSD17B4):c.1547T>C (p.Ile516Thr) rs587777443
NM_000414.3(HSD17B4):c.1566T>A (p.Ser522Arg) rs184492796
NM_000414.3(HSD17B4):c.1596T>C (p.His532=) rs758045328
NM_000414.3(HSD17B4):c.1628G>C (p.Arg543Pro) rs201009485
NM_000414.3(HSD17B4):c.1767+8T>C rs190659146
NM_000414.3(HSD17B4):c.1791C>T (p.Val597=) rs2560722
NM_000414.3(HSD17B4):c.2060C>T (p.Thr687Ile) rs28943592
NM_000414.3(HSD17B4):c.2182A>G (p.Met728Val) rs28943594
NM_000414.3(HSD17B4):c.2199C>T (p.Tyr733=) rs12714
NM_000414.3(HSD17B4):c.394C>T (p.Arg132Trp) rs773305477
NM_000414.3(HSD17B4):c.420A>T (p.Lys140Asn) rs28943589
NM_000414.3(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096
NM_000414.3(HSD17B4):c.666C>G (p.Val222=) rs150677536
NM_000414.3(HSD17B4):c.742C>T (p.Arg248Cys) rs969485098
NM_000414.3(HSD17B4):c.743G>A (p.Arg248His) rs748057401
NM_000414.3(HSD17B4):c.868+1delG
NM_000414.3(HSD17B4):c.875C>G (p.Thr292Ser) rs1143650
NM_001199291.2(HSD17B4):c.1285-11C>G rs779466683

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