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 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
210 88 6 22 15 1 11 50

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 association drug response
pathogenic 6 17 5 1 1 1 1
likely pathogenic 16 0 8 0 0 0 0
uncertain significance 4 8 0 15 0 0 0
likely benign 0 0 15 0 5 0 0
benign 0 0 0 5 0 0 0

All variants with conflicting interpretations #

Total variants: 50
Download table as spreadsheet
HGVS dbSNP
NM_001128227.3(GNE):c.-10G>A rs73449614
NM_001128227.3(GNE):c.18T>A (p.Tyr6Ter) rs200763627
NM_005476.7(GNE):c.1020A>G (p.Gln340=) rs747807631
NM_005476.7(GNE):c.1070+2dup rs886043636
NM_005476.7(GNE):c.1070+7A>G rs149675783
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.1379C>T (p.Ala460Val) rs121908631
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.1634-7G>A rs139442869
NM_005476.7(GNE):c.165-9C>T rs760509369
NM_005476.7(GNE):c.1675G>A (p.Gly559Arg) rs762009737
NM_005476.7(GNE):c.1686del (p.Cys563fs) rs886044449
NM_005476.7(GNE):c.1714G>C (p.Val572Leu) rs121908632
NM_005476.7(GNE):c.175C>T (p.Arg59Ter) rs745517517
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.2004C>T (p.Ser668=) rs150045137
NM_005476.7(GNE):c.2070C>T (p.Ser690=) rs776582567
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.2135T>C (p.Met712Thr) rs28937594
NM_005476.7(GNE):c.386G>A (p.Arg129Gln) rs748704459
NM_005476.7(GNE):c.466T>C (p.Tyr156His) rs794727505
NM_005476.7(GNE):c.484C>T (p.Arg162Cys) rs769215411
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.612G>A (p.Trp204Ter) rs786204476
NM_005476.7(GNE):c.616+1del rs1554663295
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.722T>G (p.Ile241Ser) rs759945787
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.829C>T (p.Arg277Cys) rs762106720
NM_005476.7(GNE):c.843C>T (p.His281=) rs138694766
Single allele

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