ClinVar Miner

Variants with conflicting interpretations studied for Obesity

Coded as:
Minimum review status of the submission for Obesity: Y axis collection method of the submission for Obesity:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
37 16 1 9 6 5 6 22

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.

All conditions
Obesity pathogenic likely pathogenic uncertain significance likely benign benign protective
pathogenic 0 3 2 0 0 0
likely pathogenic 2 0 3 0 0 0
uncertain significance 2 2 1 5 1 2
likely benign 0 0 4 0 3 2
benign 0 0 0 1 0 0
protective 0 0 2 2 1 0
risk factor 0 0 0 1 2 0

Condition to condition summary #

Total conditions: 13
Download table as spreadsheet
Condition 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
not specified 0 3 0 2 4 2 1 8
not provided 0 2 0 4 1 2 2 6
Monogenic diabetes 0 1 1 1 2 2 1 4
Obesity 69 2 0 0 3 2 1 4
Arterial calcification of infancy 0 0 0 0 0 2 0 2
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 0 2 0 2 0 0 1 2
Hypophosphatemic Rickets, Recessive 0 0 0 0 0 2 0 2
Obesity, autosomal dominant 0 0 0 2 0 0 0 2
Familial partial lipodystrophy 3 0 0 0 0 0 0 1 1
Glioma susceptibility 1 0 0 0 1 0 0 0 1
Leptin receptor deficiency 0 0 0 0 1 0 0 1
Monogenic Non-Syndromic Obesity 0 0 0 0 1 0 0 1
Schizophrenia 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 22
Download table as spreadsheet
HGVS dbSNP
NM_001135659.2(NRXN1):c.3619C>T (p.Arg1207Ter) rs199546979
NM_002303.5(LEPR):c.3417A>G (p.Ala1139=) rs61781316
NM_005912.2(MC4R):c.105C>A (p.Tyr35Ter) rs13447324
NM_005912.2(MC4R):c.110A>T (p.Asp37Val) rs13447325
NM_005912.3(MC4R):c.181G>A (p.Glu61Lys) rs370479598
NM_005912.3(MC4R):c.307G>A (p.Val103Ile) rs2229616
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) rs13447331
NM_005912.3(MC4R):c.449C>T (p.Thr150Ile) rs766665118
NM_005912.3(MC4R):c.466C>T (p.Gln156Ter) rs369841551
NM_005912.3(MC4R):c.594C>T (p.Ile198=) rs61741819
NM_005912.3(MC4R):c.606C>A (p.Phe202Leu) rs138281308
NM_005912.3(MC4R):c.749T>A (p.Leu250Gln) rs772393451
NM_005912.3(MC4R):c.751A>C (p.Ile251Leu) rs52820871
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn) rs79783591
NM_005912.3(MC4R):c.947T>G (p.Ile316Ser) rs121913564
NM_005996.4(TBX3):c.1208G>A (p.Arg403Gln) rs145432134
NM_006208.3(ENPP1):c.*1043A>G rs7754561
NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln) rs1044498
NM_138712.3(PPARG):c.1347C>T (p.His449=) rs3856806
NM_138712.3(PPARG):c.1400C>T (p.Pro467Leu) rs121909244
NM_138712.3(PPARG):c.354T>C (p.Ala118=) rs147975759
m.15497G>A rs199951903

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.