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. Author manuscript; available in PMC: 2020 Sep 1.
Published in final edited form as: Curr Protoc Bioinformatics. 2019 Sep;67(1):e85. doi: 10.1002/cpbi.85

Figure 4: Geno2MP and ClinVar.

Figure 4:

Searching for the variant 6:99365567 T>C in the gene FBXL4, Geno2MP and ClinVar shows that: A) In Geno2MP there are seven HPO (human phenotype ontology phenotype) profiles listed on the right. In addition, there are no individuals homozygous for the variant of interest and nine individuals heterozygous for the variant of interest. B) However, only three out of the seven HPO Profiles are actually from affected individuals. C) In ClinVar, there are forty known variants that are pathogenic and causing a disease. All variants are listed below in a table. D) Notice that the top variants are all highlighted in blue. These are the variants that are at or include the genomic coordinate of your variant of interest. This usually results in highlighting the copy number variants covering your variant. Thus, the single nucleotide variants then are displayed only after scrolling past the copy number variants.