A variant was discovered in gene LOC126806757, CBLB (P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:105438452-105439651| Cbl proto-oncogene B), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Autoimmune disease, multisystem, infantile-onset, 3