ClinVar Miner

Variants with conflicting interpretations studied for Tubulinopathies

Coded as:
Minimum review status of the submission for Tubulinopathies: Y axis collection method of the submission for Tubulinopathies:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
50 44 0 24 0 0 5 27

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.

All conditions
Tubulinopathies pathogenic likely pathogenic uncertain significance
pathogenic 0 12 0
likely pathogenic 12 0 4
uncertain significance 1 0 0

Condition to condition summary #

Total conditions: 6
Download table as spreadsheet
Condition 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
Lissencephaly 3 0 26 0 10 0 0 2 12
not provided 0 26 0 10 0 0 1 11
Inborn genetic diseases 0 5 0 3 0 0 1 4
Lissencephaly 3; Agenesis of corpus callosum; Genetic syndrome with a Dandy-Walker malformation as major feature 0 0 0 1 0 0 0 1
Tubulinopathy 0 0 0 1 0 0 0 1
not specified 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 27
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HGVS dbSNP
NM_001270399.1(TUBA1A):c.920C>T (p.Pro307Leu) rs1555162325
NM_006009.2(TUBA1A):c.1096G>A (p.Gly366Arg) rs1555162299
NM_006009.2(TUBA1A):c.1168C>G (p.Arg390Gly) rs1064793286
NM_006009.2(TUBA1A):c.641G>T (p.Arg214Leu) rs1057517843
NM_006009.3(TUBA1A):c.1105G>A (p.Ala369Thr) rs797046071
NM_006009.3(TUBA1A):c.1148C>T (p.Ala383Val) rs587784482
NM_006009.3(TUBA1A):c.1169G>C (p.Arg390Pro) rs1064796460
NM_006009.3(TUBA1A):c.1177C>T (p.His393Tyr) rs1555162288
NM_006009.3(TUBA1A):c.1224C>A (p.Tyr408Ter) rs753719501
NM_006009.3(TUBA1A):c.1274T>A (p.Met425Lys) rs587784484
NM_006009.3(TUBA1A):c.13A>C (p.Ile5Leu) rs387906840
NM_006009.3(TUBA1A):c.352G>A (p.Val118Met) rs863224938
NM_006009.3(TUBA1A):c.368G>A (p.Arg123His) rs1555162456
NM_006009.3(TUBA1A):c.424G>A (p.Gly142Ser) rs1555162407
NM_006009.3(TUBA1A):c.481T>G (p.Tyr161Asp) rs587784488
NM_006009.3(TUBA1A):c.521C>T (p.Ala174Val) rs587784489
NM_006009.3(TUBA1A):c.53A>G (p.Asn18Ser) rs1064795213
NM_006009.3(TUBA1A):c.5G>A (p.Arg2His) rs587784491
NM_006009.3(TUBA1A):c.791G>A (p.Arg264His) rs886043627
NM_006009.3(TUBA1A):c.808G>T (p.Ala270Ser) rs587784494
NM_006009.3(TUBA1A):c.959G>A (p.Arg320His) rs1555162323
NM_006009.4(TUBA1A):c.1148C>A (p.Ala383Asp) rs587784482
NM_006009.4(TUBA1A):c.1226T>C (p.Val409Ala) rs797045005
NM_006009.4(TUBA1A):c.17C>G (p.Ser6Cys) rs1057520574
NM_006009.4(TUBA1A):c.379G>A (p.Asp127Asn) rs1085308005
NM_006009.4(TUBA1A):c.652G>A (p.Asp218Asn) rs1057517858
NM_006009.4(TUBA1A):c.790C>G (p.Arg264Gly) rs137853043

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