ClinVar Miner

Variants with conflicting interpretations studied for Dystonia 12

Coded as:
Minimum review status of the submission for Dystonia 12: Y axis collection method of the submission for Dystonia 12:
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
80 48 1 19 6 0 4 29

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
Dystonia 12 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 1 2 1 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 1 2 0 3 1
likely benign 0 0 4 0 15
benign 0 0 1 14 0

Condition to condition summary #

Total conditions: 7
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
Dystonia 12 130 11 1 13 2 0 0 16
Alternating hemiplegia of childhood 0 33 0 13 2 0 0 15
not provided 0 12 0 5 2 0 2 9
not specified 0 2 0 6 1 0 0 7
Alternating hemiplegia of childhood 2 0 8 1 2 1 0 1 5
Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss; Dystonia 12; Alternating hemiplegia of childhood 2 0 3 1 1 0 0 0 2
Inborn genetic diseases 0 2 0 1 0 0 1 2

All variants with conflicting interpretations #

Total variants: 29
Download table as spreadsheet
HGVS dbSNP
NM_152296.5(ATP1A3):c.1011C>T (p.Thr337=) rs782312004
NM_152296.5(ATP1A3):c.1131A>G (p.Thr377=) rs143242360
NM_152296.5(ATP1A3):c.1281G>A (p.Gln427=) rs116979196
NM_152296.5(ATP1A3):c.1323G>A (p.Ala441=) rs34578730
NM_152296.5(ATP1A3):c.147T>C (p.Cys49=) rs376960579
NM_152296.5(ATP1A3):c.1527C>T (p.Ser509=) rs199625170
NM_152296.5(ATP1A3):c.154-5C>G rs191645384
NM_152296.5(ATP1A3):c.1695C>T (p.Asp565=) rs375255226
NM_152296.5(ATP1A3):c.1905C>T (p.Ala635=) rs781822752
NM_152296.5(ATP1A3):c.207A>T (p.Ala69=) rs200616931
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) rs1064797245
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His) rs606231435
NM_152296.5(ATP1A3):c.2319T>C (p.Asn773=) rs61733017
NM_152296.5(ATP1A3):c.2334G>A (p.Thr778=) rs145374789
NM_152296.5(ATP1A3):c.2417T>G (p.Met806Arg) rs549006436
NM_152296.5(ATP1A3):c.2419-7C>T rs187436315
NM_152296.5(ATP1A3):c.2439G>A (p.Ala813=) rs189555627
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys) rs587777771
NM_152296.5(ATP1A3):c.2487G>A (p.Pro829=) rs45606534
NM_152296.5(ATP1A3):c.2610C>T (p.Pro870=) rs35272495
NM_152296.5(ATP1A3):c.2752_2754GTC[1] (p.Val919del) rs606231443
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn) rs267606670
NM_152296.5(ATP1A3):c.357C>T (p.Asn119=) rs143547136
NM_152296.5(ATP1A3):c.363C>T (p.Tyr121=) rs373180830
NM_152296.5(ATP1A3):c.410_412del (p.Ser137del) rs1555865385
NM_152296.5(ATP1A3):c.6+3A>G rs369853936
NM_152296.5(ATP1A3):c.666T>G (p.Thr222=) rs2217342
NM_152296.5(ATP1A3):c.756C>T (p.Gly252=) rs150070299
NM_152296.5(ATP1A3):c.968C>T (p.Pro323Leu) rs1085307933

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