ClinVar Miner

Variants in gene UMOD 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
346 29 1 23 8 0 7 36

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 9 1 0 0
likely pathogenic 9 0 7 0 0
uncertain significance 1 7 1 8 2
likely benign 0 0 8 0 14
benign 0 0 2 14 0

All variants with conflicting interpretations #

Total variants: 36
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003361.4(UMOD):c.538C>G (p.Leu180Val) rs187555378 0.00991
NM_003361.4(UMOD):c.1740+38C>T rs116674896 0.00897
NM_003361.4(UMOD):c.1754C>T (p.Thr585Ile) rs111992415 0.00382
NM_003361.4(UMOD):c.1062C>T (p.Phe354=) rs78613713 0.00362
NM_003361.4(UMOD):c.1375C>T (p.Arg459Trp) rs139607138 0.00146
NM_003361.4(UMOD):c.1406C>T (p.Thr469Met) rs143583842 0.00051
NM_003361.4(UMOD):c.1464C>T (p.Gly488=) rs141912637 0.00049
NM_003361.4(UMOD):c.1500A>G (p.Ala500=) rs200895986 0.00037
NM_003361.4(UMOD):c.184A>C (p.Thr62Pro) rs143248111 0.00032
NM_003361.4(UMOD):c.1742C>A (p.Thr581Asn) rs143641292 0.00020
NM_003361.4(UMOD):c.1916T>C (p.Phe639Ser) rs145165861 0.00016
NM_003361.4(UMOD):c.1763G>A (p.Arg588Gln) rs387907549 0.00014
NM_003361.4(UMOD):c.973+7C>T rs557659943 0.00014
NM_003361.4(UMOD):c.1648G>A (p.Val550Ile) rs188709583 0.00013
NM_003361.4(UMOD):c.567C>T (p.Tyr189=) rs387907553 0.00007
NM_003361.4(UMOD):c.1623G>T (p.Gly541=) rs562726925 0.00006
NM_003361.4(UMOD):c.392G>A (p.Gly131Asp) rs368943553 0.00004
NM_003361.4(UMOD):c.758G>A (p.Gly253Asp) rs760253448 0.00002
NM_003361.4(UMOD):c.317G>T (p.Cys106Phe) rs398123697 0.00001
NM_003361.4(UMOD):c.326T>A (p.Val109Glu) rs780462125 0.00001
NM_003361.4(UMOD):c.1382C>A (p.Ala461Glu) rs780475918
NM_003361.4(UMOD):c.1458C>T (p.Tyr486=) rs141800038
NM_003361.4(UMOD):c.197T>C (p.Leu66Pro) rs1567311288
NM_003361.4(UMOD):c.278_289delinsCCGCCTCCT (p.Val93_Gly97delinsAlaAlaSerCys) rs878855325
NM_003361.4(UMOD):c.317G>A (p.Cys106Tyr) rs398123697
NM_003361.4(UMOD):c.376T>C (p.Cys126Arg) rs121917769
NM_003361.4(UMOD):c.533G>C (p.Arg178Pro) rs1228791562
NM_003361.4(UMOD):c.548A>G (p.Tyr183Cys) rs1064796542
NM_003361.4(UMOD):c.586G>A (p.Asp196Asn) rs1965729129
NM_003361.4(UMOD):c.610C>G (p.Arg204Gly) rs1567310019
NM_003361.4(UMOD):c.628G>A (p.Gly210Ser) rs1567309965
NM_003361.4(UMOD):c.707C>T (p.Pro236Leu) rs1447458978
NM_003361.4(UMOD):c.840C>T (p.Pro280=) rs78691203
NM_003361.4(UMOD):c.947A>C (p.Gln316Pro) rs1555487318
NM_003361.4(UMOD):c.949T>G (p.Cys317Gly) rs1555487316

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