ClinVar Miner

Variants with conflicting interpretations studied for Alternating hemiplegia of childhood

Coded as:
Minimum review status of the submission for Alternating hemiplegia of childhood: Y axis collection method of the submission for Alternating hemiplegia of childhood:
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
1 96 0 29 13 0 0 40

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
Alternating hemiplegia of childhood uncertain significance likely benign benign
uncertain significance 0 7 6
likely benign 3 0 27
benign 0 2 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
not specified 0 2 0 18 6 0 0 24
Dystonia 12 0 33 0 13 2 0 0 15
Familial hemiplegic migraine 0 75 0 7 6 0 0 13
not provided 0 9 0 3 5 0 0 8
Alternating hemiplegia of childhood 2 0 0 0 0 1 0 0 1
Familial hemiplegic migraine type 2 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 40
Download table as spreadsheet
HGVS dbSNP
NM_000702.4(ATP1A2):c.-48C>G rs41265761
NM_000702.4(ATP1A2):c.1092G>A (p.Thr364=) rs55741021
NM_000702.4(ATP1A2):c.1119G>A (p.Ser373=) rs1063125
NM_000702.4(ATP1A2):c.1474G>A (p.Glu492Lys) rs142348542
NM_000702.4(ATP1A2):c.1652-11C>G rs17846713
NM_000702.4(ATP1A2):c.1652-7C>A rs200102433
NM_000702.4(ATP1A2):c.1666A>T (p.Asn556Tyr) rs141467566
NM_000702.4(ATP1A2):c.1704C>T (p.Phe568=) rs17846714
NM_000702.4(ATP1A2):c.194G>T (p.Arg65Leu) rs187733403
NM_000702.4(ATP1A2):c.1980C>T (p.Cys660=) rs61734529
NM_000702.4(ATP1A2):c.2130C>T (p.Ala710=) rs374749325
NM_000702.4(ATP1A2):c.2259C>T (p.Ala753=) rs17846715
NM_000702.4(ATP1A2):c.246C>G (p.Pro82=) rs537472446
NM_000702.4(ATP1A2):c.2563+4C>T rs3747626
NM_000702.4(ATP1A2):c.25T>A (p.Tyr9Asn) rs55858252
NM_000702.4(ATP1A2):c.2751G>A (p.Thr917=) rs146839867
NM_000702.4(ATP1A2):c.2877G>A (p.Thr959=) rs200127278
NM_000702.4(ATP1A2):c.2943-15C>T rs111510835
NM_000702.4(ATP1A2):c.2961C>T (p.Cys987=) rs74123254
NM_000702.4(ATP1A2):c.3034+14C>T rs41288127
NM_000702.4(ATP1A2):c.339C>T (p.Tyr113=) rs148929192
NM_000702.4(ATP1A2):c.627T>C (p.Cys209=) rs139229302
NM_152296.5(ATP1A3):c.1011C>T (p.Thr337=) rs782312004
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.2319T>C (p.Asn773=) rs61733017
NM_152296.5(ATP1A3):c.2334G>A (p.Thr778=) rs145374789
NM_152296.5(ATP1A3):c.2419-7C>T rs187436315
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.357C>T (p.Asn119=) rs143547136
NM_152296.5(ATP1A3):c.363C>T (p.Tyr121=) rs373180830
NM_152296.5(ATP1A3):c.6+3A>G rs369853936
NM_152296.5(ATP1A3):c.666T>G (p.Thr222=) rs2217342

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.