ClinVar Miner

Variants in gene TGFB2 with conflicting interpretations

See also:
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
159 20 0 15 9 0 2 23

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 6 1 0 0
likely pathogenic 6 0 1 0 0
uncertain significance 1 1 0 8 4
likely benign 0 0 8 0 9
benign 0 0 4 9 0

All variants with conflicting interpretations #

Total variants: 23
Download table as spreadsheet
HGVS dbSNP
NM_001135599.3(TGFB2):c.-5A>T rs200702935
NM_001135599.3(TGFB2):c.1017-6delT rs11285412
NM_001135599.3(TGFB2):c.114G>A (p.Glu38=) rs149215818
NM_001135599.3(TGFB2):c.272G>A (p.Arg91His) rs10482721
NM_001135599.3(TGFB2):c.294_308del (p.Ala100_Tyr104del) rs398122883
NM_001135599.3(TGFB2):c.440C>T (p.Pro147Leu) rs149533093
NM_001135599.3(TGFB2):c.441G>A (p.Pro147=) rs138514914
NM_001135599.3(TGFB2):c.475C>T (p.Arg159Ter) rs869025531
NM_001135599.3(TGFB2):c.594+38_594+43dup rs10482769
NM_001135599.3(TGFB2):c.703G>C (p.Val235Leu) rs10482810
NM_001135599.3(TGFB2):c.882T>A (p.Thr294=) rs376354795
NM_001135599.3(TGFB2):c.979C>T (p.Arg327Trp) rs863223792
NM_001135599.3(TGFB2):c.988C>T (p.Arg330Cys) rs869312903
NM_003238.3(TGFB2):c.576_577delAA (p.Arg193Serfs) rs1064796256
NM_003238.4(TGFB2):c.1140C>T (p.Cys380=) rs201129153
NM_003238.4(TGFB2):c.1239C>T (p.Cys413=) rs141225367
NM_003238.4(TGFB2):c.303G>A (p.Lys101=) rs147052890
NM_003238.4(TGFB2):c.588C>T (p.Gly196=) rs192335285
NM_003238.4(TGFB2):c.644-4C>T rs11466408
NM_003238.4(TGFB2):c.823A>G (p.Ser275Gly) rs139825195
NM_003238.4(TGFB2):c.896G>A (p.Arg299Gln) rs1057521150
NM_003238.4(TGFB2):c.905G>A (p.Arg302His) rs1553303213
NM_003238.5(TGFB2):c.821dup (p.Asn274Lysfs) rs863223796

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.