Rare <i>NPC1/2</i> sequence variants of unknown significance detected in individuals with PD, FTLD, PSP, and KORA-AGE controls.

Frequencies as found in the 4300 European American exomes of the NHLBI exome sequencing project (NHLBI-ESP, http://evs.gs.washington.edu/EVS/) are given for all identified variants. Additionally, in silico predictions of the damaging potential of all variants assessed by PolyPhen2, SIFT, and Mutation Taster are noted. identified in the same individual. PD = Parkinson's disease; FTLD = frontotemporal lobar degeneration; PSP = progressive supranuclear palsy; Freq = frequency; EA = European American; N/A = not applicable.