ClinVar Miner

Variants in gene SMAD4 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
1139 136 4 19 18 0 1 38

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 3 2 1 0 0
likely pathogenic 2 0 0 0 0
uncertain significance 1 0 1 17 4
likely benign 0 0 17 0 17
benign 0 0 4 17 0

All variants with conflicting interpretations #

Total variants: 38
Download table as spreadsheet
NM_005359.5(SMAD4):c.1245_1248delCAGA (p.Asp415Glufs) rs80338965
NM_005359.5(SMAD4):c.1351_1375del25 (p.Ala451Leufs) rs587780124
NM_005359.5(SMAD4):c.746_747delAGinsCC (p.Gln249Pro) rs587782209
NM_005359.6(SMAD4):c.*11C>T rs11663402
NM_005359.6(SMAD4):c.102A>G (p.Thr34=) rs146104321
NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys) rs80338963
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=) rs1801250
NM_005359.6(SMAD4):c.1140-10del rs763877987
NM_005359.6(SMAD4):c.1140-3A>C rs956212866
NM_005359.6(SMAD4):c.1162C>T (p.Gln388Ter) rs80338964
NM_005359.6(SMAD4):c.1218G>A (p.Ala406=) rs145097078
NM_005359.6(SMAD4):c.1392C>T (p.Ala464=) rs140487104
NM_005359.6(SMAD4):c.1447+9G>A rs878854766
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val) rs149755320
NM_005359.6(SMAD4):c.1644A>G (p.Pro548=) rs756795016
NM_005359.6(SMAD4):c.1647A>G (p.Gln549=) rs113545983
NM_005359.6(SMAD4):c.1653A>G (p.Leu551=) rs199526820
NM_005359.6(SMAD4):c.21G>A (p.Thr7=) rs142292491
NM_005359.6(SMAD4):c.228A>G (p.Arg76=) rs587780556
NM_005359.6(SMAD4):c.249+10A>C rs752243771
NM_005359.6(SMAD4):c.342T>C (p.Tyr114=) rs757211048
NM_005359.6(SMAD4):c.354G>A (p.Ala118=) rs145988618
NM_005359.6(SMAD4):c.424+5G>A rs200772603
NM_005359.6(SMAD4):c.455-6A>G rs181178864
NM_005359.6(SMAD4):c.565C>T (p.Arg189Cys) rs140743238
NM_005359.6(SMAD4):c.582A>G (p.Thr194=) rs145805120
NM_005359.6(SMAD4):c.647A>G (p.Asn216Ser) rs138386557
NM_005359.6(SMAD4):c.667+9T>C rs776523203
NM_005359.6(SMAD4):c.677C>T (p.Ala226Val) rs539739051
NM_005359.6(SMAD4):c.693C>T (p.Gly231=) rs765597059
NM_005359.6(SMAD4):c.728_735del (p.Gly243fs) rs1060500742
NM_005359.6(SMAD4):c.852A>G (p.Gln284=) rs144378484
NM_005359.6(SMAD4):c.880A>G (p.Met294Val) rs7238500
NM_005359.6(SMAD4):c.905-9T>C rs1064795175
NM_005359.6(SMAD4):c.909T>G (p.Pro303=) rs141149381
NM_005359.6(SMAD4):c.947A>G (p.Asn316Ser) rs377119288
NM_005359.6(SMAD4):c.956-4A>G rs1295343500

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.