ClinVar Miner

Variants in gene GNE 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
410 21 3 19 10 0 4 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 3 14 2 0 0
likely pathogenic 14 0 3 0 0
uncertain significance 2 3 0 10 0
likely benign 0 0 10 0 5
benign 0 0 0 5 0

All variants with conflicting interpretations #

Total variants: 34
Download table as spreadsheet
NM_001128227.3(GNE):c.-10G>A rs73449614
NM_001128227.3(GNE):c.18T>A (p.Tyr6Ter) rs200763627
NM_005476.7(GNE):c.1242T>C (p.Leu414=) rs371881711
NM_005476.7(GNE):c.1267A>G (p.Ile423Val) rs35638832
NM_005476.7(GNE):c.1281+44G>A rs16933102
NM_005476.7(GNE):c.1281+6A>T rs201025841
NM_005476.7(GNE):c.1412-5C>T rs369078814
NM_005476.7(GNE):c.1509C>G (p.Pro503=) rs141172610
NM_005476.7(GNE):c.1571C>T (p.Ala524Val) rs764698870
NM_005476.7(GNE):c.165-9C>T rs760509369
NM_005476.7(GNE):c.1710TGT[1] (p.Val572del) rs762796465
NM_005476.7(GNE):c.1760T>C (p.Ile587Thr) rs748949603
NM_005476.7(GNE):c.1770C>T (p.Tyr590=) rs111302956
NM_005476.7(GNE):c.1798G>A (p.Ala600Thr) rs387906347
NM_005476.7(GNE):c.1844C>G (p.Ser615Ter) rs757523840
NM_005476.7(GNE):c.1872G>A (p.Ala624=) rs145361930
NM_005476.7(GNE):c.1908G>A (p.Ala636=) rs200812140
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005476.7(GNE):c.2086G>T (p.Val696Leu) rs121908627
NM_005476.7(GNE):c.386G>A (p.Arg129Gln) rs748704459
NM_005476.7(GNE):c.4G>T (p.Glu2Ter) rs886044514
NM_005476.7(GNE):c.527A>T (p.Asp176Val) rs139425890
NM_005476.7(GNE):c.5A>G (p.Glu2Gly)
NM_005476.7(GNE):c.612G>A (p.Trp204Ter) rs786204476
NM_005476.7(GNE):c.624T>G (p.Asp208Glu) rs35224402
NM_005476.7(GNE):c.647T>C (p.Val216Ala) rs779694939
NM_005476.7(GNE):c.673G>A (p.Asp225Asn) rs121908630
NM_005476.7(GNE):c.736C>T (p.Arg246Trp) rs773729410
NM_005476.7(GNE):c.737G>A (p.Arg246Gln) rs121908629
NM_005476.7(GNE):c.788G>T (p.Arg263Leu) rs121908623
NM_005476.7(GNE):c.796C>T (p.Arg266Trp) rs121908621
NM_005476.7(GNE):c.797G>A (p.Arg266Gln) rs121908622
NM_005476.7(GNE):c.804G>A (p.Lys268=) rs141814943
NM_005476.7(GNE):c.843C>T (p.His281=) rs138694766

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