+ +
NOTE:
+These data are for research purposes only. While the ClinGen data are
+open to the public, users seeking information about a personal medical or
+genetic condition are urged to consult with a qualified physician for
+diagnosis and for answers to personal medical questions.
+
+UCSC presents these data for use by qualified professionals, and even +such professionals should use caution in interpreting the significance of +information found here. No single data point should be taken at face +value and such data should always be used in conjunction with as much +corroborating data as possible. No treatment protocols should be +developed or patient advice given on the basis of these data without +careful consideration of all possible sources of information. +
++No attempt to identify individual patients should +be undertaken. No one is authorized to attempt to identify patients +by any means. +
+ ++The ClinGen Structural Variants dataset displays curated copy number variants (CNVs) +with sufficient evidence supporting (pathogenic) or refuting (benign) dosage sensitivity as a +mechanism for disease from the dbVar study nstd45 (ClinGen Curated Dosage +Sensitivity Map-obsoleted). Dosage sensitivity has been reviewed in an evidence-based manner by the +ClinGen Structural Variation Working Group as described in Riggs et al. 2012. See Variant +Summary counts for nstd45 in dbVar Variant Summary. +
+ ++Items are shaded according to variant type, red for CNV loss, +blue for CNV gain. Mouseover on items indicates affected +protein-coding genes, size of the variant, variant type (gain, loss), and associated phenotype. +When more than 2 genes are affected by a variant, the full list can be obtained by clicking on the +item and reading the details page. +
+ ++All tracks can be filtered according to the size of the variant, variant type, and clinical significance. +
+ ++The raw data can be explored interactively with the Table Browser, +or the Data Integrator. For automated analysis, the data may +be queried from our REST API. Please refer to our +mailing list archives +for questions, or our Data Access FAQ for more +information. +
+ ++Thank you to ClinGen and NCBI, especially Erin Rooney Riggs for technical coordination and +consultation, and to Christopher Lee, Anna Benet-Pages, and Maximilian Haeussler of the Genome +Browser team for engineering the track display. +
+ ++Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ, Ledbetter DH, Maglott DR, Martin +CL, Nussbaum RL et al. + +ClinGen--the Clinical Genome Resource. +N Engl J Med. 2015 Jun 4;372(23):2235-42. +PMID: 26014595; PMC: PMC4474187 +
+ ++Riggs ER, Church DM, Hanson K, Horner VL, Kaminsky EB, Kuhn RM, Wain KE, Williams ES, Aradhya S, +Kearney HM et al. + +Towards an evidence-based process for the clinical interpretation of copy number variation. +Clin Genet. 2012 May;81(5):403-12. +PMID: 22097934; PMC: PMC5008023 +
+ ++Strande NT, Riggs ER, Buchanan AH, Ceyhan-Birsoy O, DiStefano M, Dwight SS, Goldstein J, Ghosh R, +Seifert BA, Sneddon TP et al. + +Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed +by the Clinical Genome Resource. +Am J Hum Genet. 2017 Jun 1;100(6):895-906. +PMID: 28552198; PMC: PMC5473734 +
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