. Author manuscript; available in PMC: 2013 Mar 5.

Published in final edited form as: Continuum (Minneap Minn). 2011 Apr;17(2 NEUROGENETICS):347–352. doi: 10.1212/01.CON.0000396975.87637.86

Practice Table 1.

Suggested Internet Resources for General Evaluation of Nonsynonymous Genetic Variants of Unknown Significance^a

▶
Literature Review
- PubMed (www.ncbi.nlm.nih.gov/pubmed)
▶
Gene-Specific Variant Reporting
- GeneTests (www.ncbi.nlm.nih.gov/sites/GeneTests)
- Human Genome Variation Society, Locus Specific Mutation Databases (www.hgvs.org/dblist/glsdb.html)
- Leiden Open Variation Database, List of Public Installations (www.lovd.nl)
- Online Mendelian Inheritance in Man (www.ncbi.nlm.nih.gov/omim)
▶
Genome Browser
- UCSC Genome Bioinformatics (www.genome.ucsc.edu)
▶
Single Nucleotide Polymorphism Database
- The Single Nucleotide Polymorphism Database (dbSNP) (www.ncbi.nlm.nih.gov/snp)
▶
Protein Domain Analysis
- NCBI Conserved Domain Search (www.ncbi.nlm.nih.gov/Structure/cdd/wrpsb.cgi)
▶
Prediction of Variant Functional Effect/Phylogenetic Analysis
- PolyPhen-2 (genetics.bwh.harvard.edu/pph2)
- SNPs3D (www.snps3d.org)

This list is not comprehensive and is meant as a starting point for development of an individual analysis procedure.