Curated by Sushree Sahoo, PhD. Last updated January 24, 2022.

NA: not available; NFTC: Normophosphatemic familial tumoral calcinosis; MIRAGE: Myeloysplasia, infection, growth restriction, adrenal hypoplasia, genetial phenotypes, and enteropathy; AML: Acute myeloid leukemia; MDS: Myelodysplasia syndrome; IBMFS: Inherited bone marrow failure syndromes; TRMA: Thiamine-responsive megaloblastic anemia; Mut: mutation; P: patient; F: family; CADD: combined annotation dependent depletion in silico pathogenic scoring; MAF: minor allelic frequency; Chr: chromosome; UPD: uniparental isodisomy; del: deletion; PB: peripheral blood; BM: bone marrow

*Patient number as per the respective study.