ClinVar Miner

Variants in gene ATP1A3 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 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
422 34 1 20 10 0 1 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.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 1 3 1 0 0
likely pathogenic 3 0 1 0 0
uncertain significance 1 1 0 7 4
likely benign 0 0 7 0 17
benign 0 0 4 17 0

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.1080G>A (p.Thr360=) rs370511776
NM_152296.5(ATP1A3):c.1192+6C>T rs367771319
NM_152296.5(ATP1A3):c.1296G>T (p.Val432=) rs781928217
NM_152296.5(ATP1A3):c.1323G>A (p.Ala441=) rs34578730
NM_152296.5(ATP1A3):c.1387C>T (p.Arg463Cys) rs150785666
NM_152296.5(ATP1A3):c.1500C>T (p.Ala500=) rs146606627
NM_152296.5(ATP1A3):c.153+7C>T rs782082118
NM_152296.5(ATP1A3):c.1605C>T (p.Leu535=)
NM_152296.5(ATP1A3):c.1695C>T (p.Asp565=) rs375255226
NM_152296.5(ATP1A3):c.1714A>G (p.Asn572Asp) rs782415633
NM_152296.5(ATP1A3):c.1905C>T (p.Ala635=) rs781822752
NM_152296.5(ATP1A3):c.1924G>A (p.Val642Ile) rs201391210
NM_152296.5(ATP1A3):c.2051C>T (p.Ser684Phe) rs397515577
NM_152296.5(ATP1A3):c.2226C>T (p.Asp742=) rs146600566
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) rs1064797245
NM_152296.5(ATP1A3):c.2319T>C (p.Asn773=) rs61733017
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu) rs886041396
NM_152296.5(ATP1A3):c.2367G>A (p.Pro789=) rs372737275
NM_152296.5(ATP1A3):c.2418+9T>A
NM_152296.5(ATP1A3):c.2439G>A (p.Ala813=) rs189555627
NM_152296.5(ATP1A3):c.2559C>T (p.Leu853=)
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.55C>T (p.Arg19Cys) rs782229302
NM_152296.5(ATP1A3):c.6+3A>G rs369853936
NM_152296.5(ATP1A3):c.666T>G (p.Thr222=) rs2217342
NM_152296.5(ATP1A3):c.909C>T (p.Leu303=) rs782266448
NM_152296.5(ATP1A3):c.994-3C>G rs377256877

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