ClinVar Miner

Variants in gene TUBA1A 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
97 49 0 29 2 0 5 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 0 24 3 0 0
likely pathogenic 24 0 4 0 0
uncertain significance 3 4 0 2 0
likely benign 0 0 2 0 5
benign 0 0 0 5 0

All variants with conflicting interpretations #

Total variants: 34
Download table as spreadsheet
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.*1delA rs781483247
NM_006009.3(TUBA1A):c.1008G>A (p.Lys336=) rs11829764
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.189C>T (p.Pro63=) rs147273934
NM_006009.3(TUBA1A):c.226+10C>T rs199717430
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.396C>T (p.Leu132=) rs1143560
NM_006009.3(TUBA1A):c.4-7C>T rs560491477
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_006009.3(TUBA1A):c.966C>T (p.Asp322=) rs142641191
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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