ClinVar Miner

Variants in gene TGFBR2 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
191 112 0 22 16 0 8 41

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 3 1 1
likely pathogenic 6 0 3 1 2
uncertain significance 3 3 0 15 5
likely benign 1 1 15 0 17
benign 1 2 5 17 0

All variants with conflicting interpretations #

Total variants: 41
Download table as spreadsheet
HGVS dbSNP
NM_001024847.2(TGFBR2):c.1090C>T (p.Arg364Trp) rs761991787
NM_001024847.2(TGFBR2):c.1732T>A (p.Ser578Thr) rs112215250
NM_001024847.2(TGFBR2):c.539C>T (p.Thr180Ile) rs727504406
NM_003242.5(TGFBR2):c.1014G>A (p.Thr338=) rs764720370
NM_003242.5(TGFBR2):c.1062C>T (p.Leu354=) rs113194608
NM_003242.5(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192
NM_003242.5(TGFBR2):c.1125C>T (p.Ile375=) rs751663055
NM_003242.5(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003242.5(TGFBR2):c.1159G>T (p.Val387Leu) rs35766612
NM_003242.5(TGFBR2):c.115A>T (p.Thr39Ser) rs780280433
NM_003242.5(TGFBR2):c.1185G>C (p.Leu395=) rs193922663
NM_003242.5(TGFBR2):c.1254+8A>G rs200630803
NM_003242.5(TGFBR2):c.1336G>A (p.Asp446Asn) rs886039551
NM_003242.5(TGFBR2):c.1408T>G (p.Tyr470Asp) rs863224935
NM_003242.5(TGFBR2):c.1458C>T (p.Ser486=) rs139881155
NM_003242.5(TGFBR2):c.1483C>T (p.Arg495Ter) rs104893819
NM_003242.5(TGFBR2):c.1489C>T (p.Arg497Ter) rs863223852
NM_003242.5(TGFBR2):c.1525-6C>G rs748388518
NM_003242.5(TGFBR2):c.1525-7G>A rs377499122
NM_003242.5(TGFBR2):c.1525-8C>T rs11466530
NM_003242.5(TGFBR2):c.1526G>T (p.Gly509Val) rs863223853
NM_003242.5(TGFBR2):c.1548G>A (p.Thr516=) rs140662877
NM_003242.5(TGFBR2):c.1564G>A (p.Asp522Asn) rs863223854
NM_003242.5(TGFBR2):c.1570G>A (p.Asp524Asn) rs727504421
NM_003242.5(TGFBR2):c.1576G>C (p.Glu526Gln) rs121918714
NM_003242.5(TGFBR2):c.1580C>T (p.Ala527Val) rs727503476
NM_003242.5(TGFBR2):c.1602G>A (p.Val534=) rs140818646
NM_003242.5(TGFBR2):c.1609C>T (p.Arg537Cys) rs104893809
NM_003242.5(TGFBR2):c.367A>T (p.Met123Leu) rs768385200
NM_003242.5(TGFBR2):c.383delA (p.Lys128Serfs) rs79375991
NM_003242.5(TGFBR2):c.571G>A (p.Val191Ile) rs56105708
NM_003242.5(TGFBR2):c.617C>T (p.Thr206Met) rs150022335
NM_003242.5(TGFBR2):c.690G>A (p.Thr230=) rs201560560
NM_003242.5(TGFBR2):c.696C>T (p.Ala232=) rs768508812
NM_003242.5(TGFBR2):c.75A>G (p.Pro25=) rs572435149
NM_003242.5(TGFBR2):c.902A>G (p.His301Arg) rs863223857
NM_003242.5(TGFBR2):c.915C>T (p.Leu305=) rs146030104
NM_003242.5(TGFBR2):c.94+16238C>T rs149757320
NM_003242.5(TGFBR2):c.94+16245G>A rs61732532
NM_003242.5(TGFBR2):c.944C>T (p.Thr315Met) rs34833812
NM_003242.5(TGFBR2):c.984C>T (p.His328=) rs193922666

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