Figure 7.
Schematic representation of the SVIL gene. Upside: Rare variants identified in HYPERGEN cohort: Green = B/LB; Yellow = VUS; Downside: Variants reported in ClinVar database (clinical significance at last reviewed): Gray = VUS and conflicting interpretations of pathogenicity; Black = LP/P; Protein domains: Green, blue, yellow, gray, and brown = gelsolin-like domains. Figure was created with ProteinPaint (https://proteinpaint.stjude.org/).