ClinVar Miner

Variants in gene VPS13A 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 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
635 47 0 17 19 1 1 31

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 drug response protective other
pathogenic 1 1 1 1 1 1 1
uncertain significance 0 0 15 7 0 0 0
likely benign 0 15 0 16 0 0 0
benign 0 7 16 0 0 0 0

All variants with conflicting interpretations #

Total variants: 31
Download table as spreadsheet
HGVS dbSNP
NM_033305.3(VPS13A):c.101-7T>C rs190684534
NM_033305.3(VPS13A):c.1528C>T (p.Leu510=) rs147954757
NM_033305.3(VPS13A):c.1758T>C (p.Ala586=) rs149037185
NM_033305.3(VPS13A):c.2037+8C>A rs41289961
NM_033305.3(VPS13A):c.2124A>G (p.Ser708=) rs199682779
NM_033305.3(VPS13A):c.2201G>A (p.Ser734Asn) rs117320408
NM_033305.3(VPS13A):c.2667+11C>T rs375898960
NM_033305.3(VPS13A):c.2922C>T (p.Pro974=) rs373768055
NM_033305.3(VPS13A):c.3083A>G (p.Glu1028Gly) rs148656796
NM_033305.3(VPS13A):c.3356G>A (p.Gly1119Glu) rs144358567
NM_033305.3(VPS13A):c.4007A>T (p.His1336Leu) rs142058362
NM_033305.3(VPS13A):c.4602T>C (p.Ser1534=) rs752134753
NM_033305.3(VPS13A):c.4642G>A (p.Glu1548Lys) rs41289967
NM_033305.3(VPS13A):c.4760A>G (p.Tyr1587Cys) rs149840356
NM_033305.3(VPS13A):c.5725T>C (p.Leu1909=) rs139817600
NM_033305.3(VPS13A):c.5831-8T>C rs113702270
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys) rs149694033
NM_033305.3(VPS13A):c.5917G>A (p.Val1973Ile) rs41289969
NM_033305.3(VPS13A):c.5979C>T (p.Arg1993=) rs41289971
NM_033305.3(VPS13A):c.6039C>A (p.Thr2013=) rs528628591
NM_033305.3(VPS13A):c.6096-7C>T rs190144287
NM_033305.3(VPS13A):c.7044T>A (p.Pro2348=) rs143259810
NM_033305.3(VPS13A):c.7047G>A (p.Glu2349=) rs552113529
NM_033305.3(VPS13A):c.7457T>C (p.Ile2486Thr) rs141138349
NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp) rs41307461
NM_033305.3(VPS13A):c.7920A>G (p.Gln2640=) rs200387635
NM_033305.3(VPS13A):c.8676C>T (p.Ile2892=) rs117485827
NM_033305.3(VPS13A):c.9189+2545TGA[6] rs113052866
NM_033305.3(VPS13A):c.9370C>A (p.His3124Asn) rs117983287
NM_033305.3(VPS13A):c.9400-15A>C rs117688596
Single allele

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.