ClinVar Miner

Variants in gene GALNS 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
107 18 2 19 6 0 2 27

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 2 3 1 0 0
likely pathogenic 3 0 1 0 0
uncertain significance 1 1 0 3 5
likely benign 0 0 3 0 16
benign 0 0 5 16 0

All variants with conflicting interpretations #

Total variants: 27
Download table as spreadsheet
HGVS dbSNP
NM_000512.4(GALNS):c.*3C>G rs77826920
NM_000512.4(GALNS):c.1002+17C>T rs78494153
NM_000512.4(GALNS):c.1156C>T (p.Arg386Cys) rs118204437
NM_000512.4(GALNS):c.1177G>T (p.Ala393Ser) rs2303269
NM_000512.4(GALNS):c.1278G>T (p.Gly426=) rs76651187
NM_000512.4(GALNS):c.1376C>T (p.Ala459Val) rs114703967
NM_000512.4(GALNS):c.1413C>T (p.Val471=) rs73251084
NM_000512.4(GALNS):c.1438G>T (p.Val480Phe) rs151296605
NM_000512.4(GALNS):c.1462G>A (p.Val488Met) rs78127134
NM_000512.4(GALNS):c.181C>T (p.Arg61Trp) rs145798311
NM_000512.4(GALNS):c.240G>A (p.Ser80=) rs11865929
NM_000512.4(GALNS):c.318C>T (p.Asn106=) rs34278797
NM_000512.4(GALNS):c.337A>T (p.Ile113Phe) rs118204438
NM_000512.4(GALNS):c.415G>A (p.Gly139Ser) rs146093755
NM_000512.4(GALNS):c.421T>A (p.Trp141Arg) rs794727625
NM_000512.4(GALNS):c.510T>C (p.Tyr170=) rs3743544
NM_000512.4(GALNS):c.566+10C>T rs77514811
NM_000512.4(GALNS):c.566+5T>C rs3743545
NM_000512.4(GALNS):c.599C>T (p.Thr200Met) rs7187889
NM_000512.4(GALNS):c.633+22T>C rs201579340
NM_000512.4(GALNS):c.692C>G (p.Ala231Gly) rs34745339
NM_000512.4(GALNS):c.723C>T (p.Ala241=) rs117053987
NM_000512.4(GALNS):c.775C>A (p.Arg259=) rs61742258
NM_000512.4(GALNS):c.846C>T (p.Phe282=) rs35232749
NM_000512.4(GALNS):c.858G>A (p.Thr286=) rs140299014
NM_000512.4(GALNS):c.935C>G (p.Thr312Ser) rs118204446
NM_000512.4(GALNS):c.953T>G (p.Met318Arg) rs746756997

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.