ITPA and hyperinsulinemic hypoglycemia, familial, 4: Fourteen of these also have assertions of pathogenic, benign or uncertain, whereas 38 (0.6%) have only “drug response” and were all “reviewed by an expert panel.” For example, Q9BY32:p.Pro32Thr (uniprot.org/uniprot/Q9BY32#VAR_015576), a variant in the ITPA gene, is classified as a “disease” variant in UniProt due to its association with heritable inosine triphosphatase deficiency.