PKHD1 and cystic kidney disease: We identified 2 variants in PKHD1 (HGNC:9016) in an individual with cystic kidney disease—a missense variant in exon 30 (ENST00000371117.8:c.3467C>T p.(Ser1156Leu) g.52028249G>A; GRCh38; chr6) and a deep intronic splicing variant in intron 46, 653 bp from the nearest splice site (ENST00000371117.8:c.7350+653A>G g.51882440T>C; GRCh38; chr6), both of which are classified as pathogenic/likely pathogenic in ClinVar (ClinVar variant IDs 636580 and 551996, respectively).