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Items: 15

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr11:111779506
GRCh38:
Chr11:111908782
CRYABnot specifiedLikely benign
(Jan 30, 2014)
criteria provided, single submitter
2.
GRCh37:
Chr11:111779529
GRCh38:
Chr11:111908805
CRYABnot specifiedGMAF:0.00020(A)Uncertain significance
(Dec 27, 2011)
criteria provided, single submitter
3.
GRCh37:
Chr11:111779556
GRCh38:
Chr11:111908832
CRYABPrimary familial hypertrophic cardiomyopathy, not specified, not provided,
Dilated cardiomyopathy 1II, Congenital cataract
GO-ESP:0.00077(T)
GMAF:0.00020(T)
Conflicting interpretations of pathogenicity
(Mar 11, 2015)
criteria provided, conflicting interpretations
4.
GRCh37:
Chr11:111779646
GRCh38:
Chr11:111908922
CRYABnot specifiedLikely benign
(Mar 3, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr11:111779648
GRCh38:
Chr11:111908924
CRYABnot specifiedUncertain significance
(Nov 24, 2015)
criteria provided, single submitter
6.
GRCh37:
Chr11:111779663
GRCh38:
Chr11:111908939
CRYABnot specifiedUncertain significance
(Mar 20, 2015)
criteria provided, single submitter
7.
GRCh37:
Chr11:111779693
GRCh38:
Chr11:111908969
CRYABMyofibrillar myopathyLikely pathogenic
(Feb 13, 2012)
criteria provided, single submitter
8.
GRCh37:
Chr11:111781047
GRCh38:
Chr11:111910323
CRYABnot specifiedGO-ESP:0.27239(C)
GMAF:0.23980(C)
Benign
(Dec 27, 2013)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr11:111781110
GRCh38:
Chr11:111910386
CRYABnot specifiedUncertain significance
(Sep 26, 2013)
criteria provided, single submitter
10.
GRCh37:
Chr11:111782284
GRCh38:
Chr11:111911560
CRYABnot specified, Dilated cardiomyopathy 1IIGO-ESP:0.01647(T)
GMAF:0.00920(T)
Benign
(Mar 8, 2016)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr11:111782297
GRCh38:
Chr11:111911573
CRYABnot specifiedGO-ESP:0.00054(A)
GMAF:0.00040(A)
Likely benign
(Oct 27, 2015)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr11:111782333
GRCh38:
Chr11:111911609
CRYABnot specifiedUncertain significance
(Apr 12, 2013)
criteria provided, single submitter
13.
GRCh37:
Chr11:111782389
GRCh38:
Chr11:111911665
CRYABnot specifiedGMAF:0.01000(A)Benign
(Jan 23, 2013)
criteria provided, single submitter
14.
GRCh37:
Chr11:111782407
GRCh38:
Chr11:111911683
CRYABnot specifiedLikely benign
(Jul 23, 2015)
criteria provided, single submitter
15.
GRCh37:
Chr11:111782446
GRCh38:
Chr11:111911722
CRYABMyofibrillar myopathyLikely pathogenic
(Feb 13, 2012)
criteria provided, single submitter
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