S I D E B A R
Format
Items per page
Sort by

Download:

Choose Destination

Search results

Items: 44

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr15:35082610
GRCh38:
Chr15:34790409
ACTC1, LOC101928174not specifiedUncertain significance
(Dec 17, 2010)
criteria provided, single submitter
2.
GRCh37:
Chr15:35082655
GRCh38:
Chr15:34790454
ACTC1, LOC101928174not specifiedGO-ESP:0.00008(A)
GO-ESP:0.00004(A)
Likely benign
(Jul 7, 2015)
criteria provided, single submitter
3.
GRCh37:
Chr15:35082663
GRCh38:
Chr15:34790462
ACTC1, LOC101928174not specifiedUncertain significance
(Jul 8, 2015)
criteria provided, single submitter
4.
GRCh37:
Chr15:35082694
GRCh38:
Chr15:34790493
ACTC1, LOC101928174not specifiedGMAF:0.00020(G)Likely benign
(Apr 30, 2009)
criteria provided, single submitter
5.
GRCh37:
Chr15:35082708
GRCh38:
Chr15:34790507
ACTC1, LOC101928174not specifiedUncertain significance
(Jul 14, 2014)
criteria provided, single submitter
6.
GRCh37:
Chr15:35083378
GRCh38:
Chr15:34791177
ACTC1, LOC101928174Atrial septal defect, Familial restrictive cardiomyopathy, not specified,
Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Cardiovascular phenotype,
Dilated Cardiomyopathy, Dominant
GO-ESP:0.02593(G)
GMAF:0.02860(G)
GO-ESP:0.00983(G)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr15:35083387
GRCh38:
Chr15:34791186
ACTC1, LOC101928174not specifiedLikely benign
(Oct 7, 2008)
criteria provided, single submitter
8.
GRCh37:
Chr15:35083402
GRCh38:
Chr15:34791201
ACTC1, LOC101928174Familial hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5,
not specified
GO-ESP:0.00008(C)
GO-ESP:0.00002(C)
Likely benign
(Jan 21, 2016)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr15:35083439
GRCh38:
Chr15:34791238
ACTC1, LOC101928174Cardiomyopathy, not providedLikely pathogenic
(Sep 22, 2011)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr15:35083451
GRCh38:
Chr15:34791250
ACTC1, LOC101928174Primary familial hypertrophic cardiomyopathy, not specifiedUncertain significance
(Nov 24, 2015)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr15:35083455
GRCh38:
Chr15:34791254
ACTC1, LOC101928174not specifiedUncertain significance
(May 15, 2014)
criteria provided, single submitter
12.
GRCh37:
Chr15:35084288
GRCh38:
Chr15:34792087
ACTC1, LOC101928174not specifiedUncertain significance
(Jan 27, 2011)
criteria provided, single submitter
13.
GRCh37:
Chr15:35084293
GRCh38:
Chr15:34792092
ACTC1, LOC101928174not specified, not providedConflicting interpretations of pathogenicity
(Feb 11, 2014)
criteria provided, conflicting interpretations
14.
GRCh37:
Chr15:35084301
GRCh38:
Chr15:34792100
ACTC1, LOC101928174not specifiedLikely benign
(Mar 1, 2008)
criteria provided, single submitter
15.
GRCh37:
Chr15:35084306
GRCh38:
Chr15:34792105
ACTC1, LOC101928174Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotypeConflicting interpretations of pathogenicity
(Mar 4, 2015)
criteria provided, conflicting interpretations
16.
GRCh37:
Chr15:35084343
GRCh38:
Chr15:34792142
ACTC1, LOC101928174not specifiedUncertain significance
(Jan 23, 2013)
no assertion criteria provided
17.
GRCh37:
Chr15:35084360
GRCh38:
Chr15:34792159
ACTC1, LOC101928174not specifiedUncertain significance
(Oct 22, 2014)
criteria provided, single submitter
18.
GRCh37:
Chr15:35084464
GRCh38:
Chr15:34792263
ACTC1, LOC101928174not specifiedUncertain significance
(Mar 31, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr15:35084477
GRCh38:
Chr15:34792276
ACTC1, LOC101928174not specifiedUncertain significance
(Jan 20, 2015)
criteria provided, single submitter
20.
GRCh37:
Chr15:35084601
GRCh38:
Chr15:34792400
ACTC1, LOC101928174not specifiedGO-ESP:0.00001(G)Likely benign
(Sep 17, 2010)
criteria provided, single submitter
21.
GRCh37:
Chr15:35084608
GRCh38:
Chr15:34792407
ACTC1, LOC101928174not specifiedUncertain significance
(Nov 3, 2010)
criteria provided, single submitter
22.
GRCh37:
Chr15:35084672
GRCh38:
Chr15:34792471
ACTC1, LOC101928174Primary dilated cardiomyopathyLikely pathogenic
(May 20, 2010)
criteria provided, single submitter
23.
GRCh37:
Chr15:35084709
GRCh38:
Chr15:34792508
ACTC1, LOC101928174not specifiedLikely benign
(Apr 16, 2010)
criteria provided, single submitter
24.
GRCh37:
Chr15:35084712
GRCh38:
Chr15:34792511
ACTC1, LOC101928174Familial hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5,
not specified
GO-ESP:0.00062(A)
GO-ESP:0.00007(A)
Benign/Likely benign
(Dec 29, 2015)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr15:35084750
GRCh38:
Chr15:34792549
ACTC1, LOC101928174not specified, not providedConflicting interpretations of pathogenicity
(Jul 9, 2014)
criteria provided, conflicting interpretations
26.
GRCh37:
Chr15:35084760
GRCh38:
Chr15:34792559
ACTC1, LOC101928174not specifiedGO-ESP:0.00003(T)Likely benign
(Sep 2, 2010)
criteria provided, single submitter
27.
GRCh37:
Chr15:35085437
GRCh38:
Chr15:34793236
ACTC1, LOC101928174Familial hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R, Atrial septal defect 5,
not specified
GO-ESP:0.00231(T)
GMAF:0.00400(T)
GO-ESP:0.00082(T)
Benign
(Feb 25, 2016)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr15:35085517
GRCh38:
Chr15:34793316
ACTC1, LOC101928174not specifiedUncertain significance
(Jan 23, 2013)
no assertion criteria provided
29.
GRCh37:
Chr15:35085528
GRCh38:
Chr15:34793327
ACTC1, LOC101928174not specifiedUncertain significance
(Jan 22, 2013)
criteria provided, single submitter
30.
GRCh37:
Chr15:35085545
GRCh38:
Chr15:34793344
ACTC1, LOC101928174not specifiedUncertain significance
(Mar 1, 2008)
no assertion criteria provided
31.
GRCh37:
Chr15:35085590
GRCh38:
Chr15:34793389
ACTC1, LOC101928174not specifiedUncertain significance
(Dec 22, 2015)
criteria provided, single submitter
32.
GRCh37:
Chr15:35085599
GRCh38:
Chr15:34793398
ACTC1, LOC101928174Familial hypertrophic cardiomyopathy 11, Primary familial hypertrophic cardiomyopathy, Left ventricular noncompaction 4,
not provided
GO-ESP:0.00001(T)Pathogenic/Likely pathogenic
(Dec 6, 2016)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr15:35085606
GRCh38:
Chr15:34793405
ACTC1, LOC101928174not specifiedGO-ESP:0.00002(T)Likely benign
(Sep 18, 2009)
criteria provided, single submitter
34.
GRCh37:
Chr15:35085632
GRCh38:
Chr15:34793431
ACTC1, LOC101928174Familial hypertrophic cardiomyopathy 11, not specifiedGO-ESP:0.00001(A)Conflicting interpretations of pathogenicity
(Feb 19, 2016)
criteria provided, conflicting interpretations
35.
GRCh37:
Chr15:35085671
GRCh38:
Chr15:34793470
ACTC1, LOC101928174not specifiedGO-ESP:0.00003(C)Uncertain significance
(Dec 27, 2011)
criteria provided, single submitter
36.
GRCh37:
Chr15:35085681
GRCh38:
Chr15:34793480
ACTC1, LOC101928174not specifiedGO-ESP:0.00008(A)
GMAF:0.00020(A)
GO-ESP:0.00011(A)
Likely benign
(Jun 3, 2009)
criteria provided, single submitter
37.
GRCh37:
Chr15:35085683
GRCh38:
Chr15:34793482
ACTC1, LOC101928174not specifiedGO-ESP:0.00002(C)Uncertain significance
(Mar 30, 2015)
criteria provided, single submitter
38.
GRCh37:
Chr15:35085714
GRCh38:
Chr15:34793513
ACTC1, LOC101928174not specifiedUncertain significance
(Feb 9, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr15:35085735
GRCh38:
Chr15:34793534
ACTC1, LOC101928174not specifiedGO-ESP:0.00008(A)Likely benign
(Mar 19, 2012)
criteria provided, single submitter
40.
GRCh37:
Chr15:35086927
GRCh38:
Chr15:34794726
ACTC1, LOC101928174not specifiedUncertain significance
(Mar 10, 2016)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr15:35086934
GRCh38:
Chr15:34794733
ACTC1, LOC101928174not specifiedUncertain significance
(Dec 23, 2014)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr15:35086982
GRCh38:
Chr15:34794781
ACTC1, LOC101928174Atrial septal defect, Familial restrictive cardiomyopathy, not specified,
Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Cardiovascular phenotype,
Dilated Cardiomyopathy, Dominant
GO-ESP:0.00003(T)Uncertain significance
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr15:35087003
GRCh38:
Chr15:34794802
ACTC1, LOC101928174not specifiedUncertain significance
(Apr 18, 2014)
criteria provided, single submitter
44.
GRCh37:
Chr15:35087046
GRCh38:
Chr15:34794845
ACTC1, LOC101928174not specifiedGO-ESP:0.00038(C)
GMAF:0.00020(C)
GO-ESP:0.00009(C)
Benign/Likely benign
(Sep 22, 2014)
criteria provided, multiple submitters, no conflicts
Format
Items per page
Sort by

Download:

Choose Destination
Support Center