PKD1 and autosomal dominant polycystic kidney disease: Interestingly, a potentially pathogenic variant was identified in PKD1 (polycystic kidney disease 1) gene (PKD1, (GRCh38): NC_000016.10: g.2118807 A > G, NM_001009944.3:c.398 T > C, p.Leu133Pro), the gene most frequently mutated in ADPKD.