The American College of Medical Genetics and Genomics/Association of Molecular Pathology (ACMG/AMP) criteria are used to classify variants as pathogenic, likely pathogenic, likely benign, or benign [10]. Variants with inconclusive evidence for clinical classification are designated as variants of uncerta...
MedGene Database, a database from Institute of Proteomics, Harvard Medical School[http://hipseq.med.harvard.edu/MEDGENE/] Kyoto Encyclopedia of Genes and Genomes (KEGG) home page[http://www.genome.ad.jp/kegg] Biocarta Pathway Collections[http://www.biocarta.com/genes/allPathways.asp] CGAP,...