ClinVar Miner

Variants in gene MTTP 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
268 19 0 11 11 1 1 20

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.

likely pathogenic uncertain significance likely benign benign protective
likely pathogenic 0 1 0 0 0
uncertain significance 1 0 7 6 0
likely benign 0 7 0 11 1
benign 0 6 11 0 1
protective 0 0 1 1 0

All variants with conflicting interpretations #

Total variants: 20
Download table as spreadsheet
NM_000253.3(MTTP):c.-149C>A rs886058955
NM_000253.3(MTTP):c.-214G>A rs569667113
NM_000253.3(MTTP):c.111G>A (p.Thr37=) rs147921439
NM_000253.3(MTTP):c.136C>G (p.Arg46Gly) rs141736123
NM_000253.3(MTTP):c.1715A>G (p.Asn572Ser) rs772602972
NM_000253.3(MTTP):c.2025C>T (p.Ile675=) rs79023226
NM_000253.3(MTTP):c.2043G>A (p.Glu681=) rs145444300
NM_000253.3(MTTP):c.2433G>C (p.Leu811Phe) rs144590904
NM_000253.3(MTTP):c.2657C>T (p.Pro886Leu) rs144600401
NM_000253.3(MTTP):c.2673C>T (p.Ser891=) rs115222767
NM_000253.3(MTTP):c.383T>C (p.Ile128Thr) rs3816873
NM_000253.3(MTTP):c.419A>G (p.Asn140Ser) rs61733140
NM_000253.3(MTTP):c.453T>C (p.Gly151=) rs991811
NM_000253.3(MTTP):c.490A>G (p.Thr164Ala) rs563558722
NM_000253.3(MTTP):c.502G>A (p.Val168Ile) rs61750974
NM_000253.3(MTTP):c.522T>C (p.Cys174=) rs982424
NM_000253.3(MTTP):c.915G>A (p.Ser305=) rs199716549
NM_000253.3(MTTP):c.969T>C (p.Ala323=) rs17533489
NM_000253.3(MTTP):c.972G>A (p.Glu324=) rs146953015
NM_000253.4(MTTP):c.2320T>G (p.Ser774Ala)

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.