ClinVar Miner

Variants in gene ACTN2 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
609 83 0 25 15 0 4 42

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 3 3 0 0
likely pathogenic 3 0 1 0 0
uncertain significance 3 1 0 15 1
likely benign 0 0 15 0 22
benign 0 0 1 22 0

All variants with conflicting interpretations #

Total variants: 42
Download table as spreadsheet
NM_001103.3(ACTN2):c.-3G>T rs201920417
NM_001103.3(ACTN2):c.1040C>T (p.Thr347Met) rs727504590
NM_001103.3(ACTN2):c.1235C>T (p.Thr412Met) rs139515659
NM_001103.3(ACTN2):c.1292C>T (p.Ser431Leu) rs149846886
NM_001103.3(ACTN2):c.1298C>T (p.Ser433Leu) rs143749154
NM_001103.3(ACTN2):c.1307A>C (p.Glu436Ala) rs199955427
NM_001103.3(ACTN2):c.1341C>T (p.Phe447=) rs34785693
NM_001103.3(ACTN2):c.1383C>T (p.Ile461=) rs34827377
NM_001103.3(ACTN2):c.1406+8C>T rs397516567
NM_001103.3(ACTN2):c.1425C>T (p.Asp475=) rs148223734
NM_001103.3(ACTN2):c.1452G>A (p.Gln484=) rs200529923
NM_001103.3(ACTN2):c.1459T>C (p.Cys487Arg) rs1572140109
NM_001103.3(ACTN2):c.165C>T (p.Ala55=) rs193922634
NM_001103.3(ACTN2):c.1704G>A (p.Ala568=) rs369560444
NM_001103.3(ACTN2):c.1748A>G (p.Glu583Gly) rs200631005
NM_001103.3(ACTN2):c.1794G>A (p.Pro598=) rs137890030
NM_001103.3(ACTN2):c.18C>A (p.Pro6=) rs368367224
NM_001103.3(ACTN2):c.18C>T (p.Pro6=) rs368367224
NM_001103.3(ACTN2):c.1975-12C>T rs371352710
NM_001103.3(ACTN2):c.1975-6C>A rs201255023
NM_001103.3(ACTN2):c.1975-6C>G rs201255023
NM_001103.3(ACTN2):c.2147C>T (p.Thr716Met) rs193922635
NM_001103.3(ACTN2):c.2161C>A (p.Arg721Ser) rs149433837
NM_001103.3(ACTN2):c.2180T>G (p.Leu727Arg) rs1572148902
NM_001103.3(ACTN2):c.2194_2226del (p.Ala732_Ile742del) rs1572148914
NM_001103.3(ACTN2):c.2367+8A>G rs112714025
NM_001103.3(ACTN2):c.2541G>A (p.Ala847=) rs374278766
NM_001103.3(ACTN2):c.2568G>A (p.Pro856=) rs149554430
NM_001103.3(ACTN2):c.2578C>T (p.Gln860Ter) rs763078071
NM_001103.3(ACTN2):c.2601C>T (p.Pro867=) rs147245615
NM_001103.3(ACTN2):c.2649G>A (p.Ala883=) rs146426213
NM_001103.3(ACTN2):c.26A>G (p.Gln9Arg) rs121434525
NM_001103.3(ACTN2):c.392T>C (p.Leu131Pro) rs1572114611
NM_001103.3(ACTN2):c.427A>G (p.Ile143Val) rs786205453
NM_001103.3(ACTN2):c.441G>A (p.Ser147=) rs150182164
NM_001103.3(ACTN2):c.536+10C>T rs141219516
NM_001103.3(ACTN2):c.615+15C>T rs369293885
NM_001103.3(ACTN2):c.744C>T (p.Tyr248=) rs749565466
NM_001103.3(ACTN2):c.877-6G>A rs397516585
NM_001103.3(ACTN2):c.893G>A (p.Arg298His) rs142482143
NM_001103.3(ACTN2):c.947T>C (p.Met316Thr) rs370757762
NM_001103.4(ACTN2):c.2076C>T (p.Ile692=) rs144122893

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