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Items: 5

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr8:11606510
GRCh38:
Chr8:11749001
GATA4not specified, Atrioventricular septal defect 4, Cardiovascular phenotype
Benign/Likely benign
(Aug 1, 2017)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr8:11606543
GRCh38:
Chr8:11749034
GATA4not specified, Atrioventricular septal defect 4, Cardiovascular phenotype
Benign/Likely benign
(Sep 23, 2016)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr8:11607658
GRCh38:
Chr8:11750149
GATA4Atrial septal defect 2, Primary dilated cardiomyopathy, Tetralogy of Fallot,
not specified, Ventricular septal defect 1, Atrioventricular septal defect 4,
Cardiovascular phenotype
Conflicting interpretations of pathogenicity
(Aug 1, 2017)
criteria provided, conflicting interpretations
4.
GRCh37:
Chr8:11614502
GRCh38:
Chr8:11756993
GATA4not specified, Atrioventricular septal defect 4Benign
(Jul 31, 2017)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr8:11614575
GRCh38:
Chr8:11757066
GATA4not specified, not provided, Cardiovascular phenotype
Conflicting interpretations of pathogenicity
(Dec 13, 2016)
criteria provided, conflicting interpretations
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