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

NA: not available; mut: mutation; AML: Acute myeloid leukemia; MDS: Myelodysplasia syndrome; ALL: Acute lymphocytic leukemia; PNP: peripheral polyneuropathy; SAMD9L-SAAD: SAMD9L-mediated autoinflammatory disease; CANDLE: chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature; P: patient; F: family; UPD: uniparental isodisomy; del: deletion; LCL: lymphoblastoid cell lines; CADD: combined annotation dependent depletion in silico pathogenic scoring; Chr: chromosome; MAF: minor allelic frequency; PB: peripheral blood; BM: bone marrow; NK: natural killer; yrs: years

*Patient number as described in the respective study
#Same patient described in separate studies.