GCH1 and dopa-responsive dystonia: For instance, in GCH1 (ENST00000491895), which is associated with Dopa-responsive dystonia (MIM #600225), two variants (c.751T > C, p.Ter251ArgextTer35; c.752G > C, p.Ter251SerextTer35) were classified as P, and two other variants (c.753A > C, p.Ter251CysextTer35; c.753A > G, p.Ter251TrpextTer35) were classified as VUS in ClinVar.