ClinVar Miner

Variants in gene GBE1 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
235 29 6 11 16 0 3 32

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 6 4 1 0 0
likely pathogenic 4 0 2 0 0
uncertain significance 1 2 0 15 2
likely benign 0 0 15 0 7
benign 0 0 2 7 0

All variants with conflicting interpretations #

Total variants: 32
Download table as spreadsheet
HGVS dbSNP
NM_000158.4(GBE1):c.1134T>G (p.Ser378Arg) rs36099971
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr) rs35196441
NM_000158.4(GBE1):c.1204A>G (p.Thr402Ala)
NM_000158.4(GBE1):c.1335+9C>G rs754084067
NM_000158.4(GBE1):c.1392C>T (p.Leu464=) rs563241317
NM_000158.4(GBE1):c.1406A>G (p.Tyr469Cys) rs760661724
NM_000158.4(GBE1):c.143+8C>G rs750447886
NM_000158.4(GBE1):c.1521T>C (p.Thr507=) rs372821643
NM_000158.4(GBE1):c.1543C>T (p.Arg515Cys) rs80338672
NM_000158.4(GBE1):c.1544G>A (p.Arg515His) rs201958741
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter) rs137852888
NM_000158.4(GBE1):c.1571G>A (p.Arg524Gln) rs80338673
NM_000158.4(GBE1):c.15G>A (p.Met5Ile) rs62267114
NM_000158.4(GBE1):c.1842T>A (p.Ile614=)
NM_000158.4(GBE1):c.1883A>G (p.His628Arg) rs137852891
NM_000158.4(GBE1):c.2016G>A (p.Glu672=) rs571448518
NM_000158.4(GBE1):c.2017G>A (p.Ala673Thr) rs193074572
NM_000158.4(GBE1):c.2035C>T (p.Arg679Cys) rs202158511
NM_000158.4(GBE1):c.2074G>A (p.Ala692Thr) rs192877602
NM_000158.4(GBE1):c.24G>A (p.Ala8=) rs28763906
NM_000158.4(GBE1):c.333G>A (p.Ser111=) rs374518318
NM_000158.4(GBE1):c.405C>T (p.Leu135=) rs139882066
NM_000158.4(GBE1):c.45G>A (p.Glu15=) rs370326965
NM_000158.4(GBE1):c.555+1G>T rs759707498
NM_000158.4(GBE1):c.671T>C (p.Leu224Pro) rs137852886
NM_000158.4(GBE1):c.721A>G (p.Met241Val) rs747155575
NM_000158.4(GBE1):c.771T>A (p.Phe257Leu) rs137852887
NM_000158.4(GBE1):c.839G>A (p.Gly280Asp) rs28763902
NM_000158.4(GBE1):c.969T>C (p.Asp323=) rs555689284
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser) rs80338671
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671
NM_000158.4(GBE1):c.990C>T (p.Ser330=) rs371194644

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