ClinVar Miner

Variants in gene combination POMGNT1, TSPAN1 with conflicting interpretations

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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
197 26 10 21 10 0 5 34

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 15 2 1 1
likely pathogenic 15 10 4 1 0
uncertain significance 2 4 0 10 3
likely benign 1 1 10 0 6
benign 1 0 3 6 0

All variants with conflicting interpretations #

Total variants: 34
Download table as spreadsheet
HGVS dbSNP
NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His) rs386834010
NM_017739.3(POMGNT1):c.1167T>C (p.Ala389=) rs183698543
NM_017739.3(POMGNT1):c.1257G>A (p.Leu419=) rs41292143
NM_017739.3(POMGNT1):c.1274G>C (p.Trp425Ser) rs386834011
NM_017739.3(POMGNT1):c.1284+9G>C rs565797493
NM_017739.3(POMGNT1):c.1285-2A>G rs386834012
NM_017739.3(POMGNT1):c.1298C>T (p.Thr433Met) rs146097254
NM_017739.3(POMGNT1):c.1324C>T (p.Arg442Cys) rs28940869
NM_017739.3(POMGNT1):c.1350_1354delCTGGG (p.Trp451Alafs) rs386834015
NM_017739.3(POMGNT1):c.1469G>A (p.Cys490Tyr) rs267606960
NM_017739.3(POMGNT1):c.1490G>A (p.Arg497Gln) rs573518562
NM_017739.3(POMGNT1):c.1510G>A (p.Val504Ile) rs17102066
NM_017739.3(POMGNT1):c.1539+1G>A rs138642840
NM_017739.3(POMGNT1):c.1649G>A (p.Ser550Asn) rs193919335
NM_017739.3(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973
NM_017739.3(POMGNT1):c.1719delC (p.His573Glnfs) rs386834017
NM_017739.3(POMGNT1):c.1738C>T (p.Arg580Ter) rs386834018
NM_017739.3(POMGNT1):c.1769G>A (p.Trp590Ter) rs386834019
NM_017739.3(POMGNT1):c.1814G>A (p.Arg605His) rs267606962
NM_017739.3(POMGNT1):c.1814G>C (p.Arg605Pro) rs267606962
NM_017739.3(POMGNT1):c.1876delG (p.Val626Serfs) rs386834022
NM_017739.3(POMGNT1):c.1895+1G>A rs386834024
NM_017739.3(POMGNT1):c.1895+1G>T rs386834024
NM_017739.3(POMGNT1):c.421-7C>A rs189274856
NM_017739.3(POMGNT1):c.453G>A (p.Thr151=) rs146121135
NM_017739.3(POMGNT1):c.549C>T (p.Phe183=) rs140724142
NM_017739.3(POMGNT1):c.643C>T (p.Arg215Ter) rs386834034
NM_017739.3(POMGNT1):c.652+1G>A rs386834035
NM_017739.3(POMGNT1):c.652+6G>A rs369289384
NM_017739.3(POMGNT1):c.681A>G (p.Lys227=) rs2292487
NM_017739.3(POMGNT1):c.931C>T (p.Arg311Ter) rs386834039
NM_017739.3(POMGNT1):c.932G>A (p.Arg311Gln) rs193919336
NM_017739.3(POMGNT1):c.960C>G (p.Arg320=) rs146933218
NM_017739.3(POMGNT1):c.982dupG (p.Val328Glyfs) rs386834040

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