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

Download:

Choose Destination

Search results

Items: 23

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr3:32148157
GRCh38:
Chr3:32106665
GPD1Lnot specifiedLikely benign
(Dec 19, 2016)
criteria provided, single submitter
2.
GRCh37:
Chr3:32148211
GRCh38:
Chr3:32106719
GPD1Lnot specifiedUncertain significance
(Aug 20, 2014)
criteria provided, single submitter
3.
GRCh37:
Chr3:32169601
GRCh38:
Chr3:32128109
GPD1LBrugada syndrome, not specifiedGMAF:0.00760(C)
GO-ESP:0.00167(C)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr3:32180227
GRCh38:
Chr3:32138735
GPD1LBrugada syndrome, not specifiedGMAF:0.00940(A)
GO-ESP:0.00201(A)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr3:32181723
GRCh38:
Chr3:32140231
GPD1LBrugada syndrome 2, SUDDEN INFANT DEATH SYNDROME, Primary familial hypertrophic cardiomyopathy,
Long QT syndrome, Brugada syndrome, not specified
GO-ESP:0.00108(G)
GMAF:0.00080(G)
GO-ESP:0.00205(G)
Conflicting interpretations of pathogenicity
(Oct 6, 2016)
criteria provided, conflicting interpretations
6.
GRCh37:
Chr3:32181737
GRCh38:
Chr3:32140245
GPD1Lnot specifiedLikely benign
(Nov 7, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr3:32181749
GRCh38:
Chr3:32140257
GPD1LBrugada syndrome, not specifiedGMAF:0.00940(A)
GO-ESP:0.00200(A)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr3:32181798
GRCh38:
Chr3:32140306
GPD1Lnot specifiedLikely benign
(Sep 1, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr3:32181818
GRCh38:
Chr3:32140326
GPD1Lnot specified, Cardiovascular phenotypeGMAF:0.00100(T)
GO-ESP:0.00137(T)
Benign/Likely benign
(Sep 21, 2015)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr3:32188128
GRCh38:
Chr3:32146636
GPD1LSudden cardiac death, Brugada syndrome, not specified,
not provided
GO-ESP:0.00015(A)Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
11.
GRCh37:
Chr3:32188181
GRCh38:
Chr3:32146689
GPD1LBrugada syndrome, not specifiedGMAF:0.00920(G)
GO-ESP:0.00193(G)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr3:32188243
GRCh38:
Chr3:32146751
GPD1Lnot specifiedLikely benign
(Nov 29, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr3:32200408
GRCh38:
Chr3:32158916
GPD1LBrugada syndrome, not specified, not provided,
Cardiovascular phenotype
GMAF:0.00180(A)
GO-ESP:0.00035(A)
Conflicting interpretations of pathogenicity
(Oct 18, 2016)
criteria provided, conflicting interpretations
14.
GRCh37:
Chr3:32200440
GRCh38:
Chr3:32158948
GPD1Lnot specifiedGO-ESP:0.00014(T)Uncertain significance
(Nov 10, 2014)
criteria provided, single submitter
15.
GRCh37:
Chr3:32200562
GRCh38:
Chr3:32159070
GPD1LBrugada syndrome, not specifiedGMAF:0.00140(T)
GO-ESP:0.00037(T)
Benign/Likely benign
(Feb 8, 2016)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr3:32200566
GRCh38:
Chr3:32159074
GPD1LBrugada syndrome 2, not specifiedGO-ESP:0.00004(T)Conflicting interpretations of pathogenicity
(Sep 4, 2015)
criteria provided, conflicting interpretations
17.
GRCh37:
Chr3:32200577
GRCh38:
Chr3:32159085
GPD1Lnot specifiedLikely benign
(Oct 19, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr3:32200588
GRCh38:
Chr3:32159096
GPD1LBrugada syndrome 2, not provided, Death in infancy,
Cardiovascular phenotype
GO-ESP:0.00008(T)
GMAF:0.00040(T)
GO-ESP:0.00010(T)
Pathogenic/Likely pathogenic
(Jun 21, 2016)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr3:32201173
GRCh38:
Chr3:32159681
GPD1Lnot specifiedLikely benign
(Aug 5, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr3:32201177
GRCh38:
Chr3:32159685
GPD1Lnot specifiedLikely benign
(May 11, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr3:32207327
GRCh38:
Chr3:32165835
GPD1LBrugada syndrome, not specifiedGMAF:0.00120(A)
GO-ESP:0.00068(A)
Benign
(Dec 27, 2016)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr3:32207418
GRCh38:
Chr3:32165926
GPD1Lnot specifiedLikely benign
(Feb 12, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr3:29689082-34233218
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
Format
Items per page
Sort by

Download:

Choose Destination
Support Center