Rare NPC1/2 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.