Condition: Atrial Septal Defects


rs1060499548 in ABL1 gene and Atrial Septal Defects PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1554333853 in CDK13 gene and Atrial Septal Defects PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

rs1555628863 in GATA6 gene and Atrial Septal Defects PMID 24385578 2014 Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia.

rs527656756 in MTA3;HAAO gene and Atrial Septal Defects PMID 28792876 2017 NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

rs121908557 in SCN4A;LOC105371858 gene and Atrial Septal Defects PMID 19065518 2008 [The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis].

PMID 15596759 2004 New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.

rs762292772 in SHANK3 gene and Atrial Septal Defects PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

rs369634007 in TMEM87B gene and Atrial Septal Defects PMID 27148590 2016 Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy.