The top significant variant (NM_016341.4:c.4724G>C) is a missense variant within the PLCE1 gene that results in the substitution of arginine for proline at position 1,575 (p.R1575P) and is classified by ClinVar as uncertain significance for association with nephrotic syndrome type 3. The gene discussed is PLCE1; the disease is nephrotic syndrome, type 3.