ClinVar Miner

Variants in gene HEXB 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 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
159 20 0 15 5 1 2 21

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 other
pathogenic 0 10 0 0 0 0
likely pathogenic 10 0 2 0 0 0
uncertain significance 0 2 0 5 1 0
likely benign 0 0 5 0 5 1
benign 0 0 1 5 0 1
other 0 0 0 1 1 0

All variants with conflicting interpretations #

Total variants: 21
Download table as spreadsheet
HGVS dbSNP
NM_000521.4(HEXB):c.1023_1026del (p.Ser341fs) rs776476415
NM_000521.4(HEXB):c.1035A>C (p.Pro345=) rs202227927
NM_000521.4(HEXB):c.1051T>C (p.Leu351=) rs114661695
NM_000521.4(HEXB):c.1082+5G>A rs5030731
NM_000521.4(HEXB):c.1248G>A (p.Ala416=) rs137915238
NM_000521.4(HEXB):c.1269A>G (p.Val423=) rs746407358
NM_000521.4(HEXB):c.1389C>G (p.Tyr463Ter) rs1554036943
NM_000521.4(HEXB):c.146C>A (p.Ser49Ter) rs1554034452
NM_000521.4(HEXB):c.1509-26G>A rs201580118
NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln) rs121907983
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys) rs764552042
NM_000521.4(HEXB):c.1614-14C>A rs201448394
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr) rs121907984
NM_000521.4(HEXB):c.214C>T (p.Leu72Phe) rs147155126
NM_000521.4(HEXB):c.445+1G>C rs761197472
NM_000521.4(HEXB):c.448A>C (p.Thr150Pro) rs938611392
NM_000521.4(HEXB):c.552T>G (p.Tyr184Ter) rs573447174
NM_000521.4(HEXB):c.558+5G>A rs892920643
NM_000521.4(HEXB):c.619A>G (p.Ile207Val) rs10805890
NM_000521.4(HEXB):c.918G>C (p.Leu306=) rs140607282
NM_000521.4(HEXB):c.965del (p.Ile322fs) rs768438206

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