Missing Data Disclaimer:

Of the 38 patients in the SH2B3 database, 36 are displayed. The following 2 patients are excluded from visualization:

Missing Genomic Data (1 patient):

P007 - Missing critical data

VEP Annotation Failure (1 patient):

P006 (UPN1744, c.1108C>T, p.Gln251X) - Variant excluded due to reference allele mismatch at chr12:111885220. The specified reference allele C does not match the Ensembl reference genome.

All cases remain documented in the complete SH2B3 database.