Fig. 1: Known pathogenic variants in patients with rhabdoid tumor predisposition syndrome, schwannomatosis, and Coffin–Siris syndrome.

a Detailed view of the SMARCB1 gene (GenBank: NM_003073.3) and the reported deletions and duplications in rhabdoid tumor predisposition syndrome type 1 (RTPS1). ¥ = one of the duplications of exon 6 represents a family with an overlapping phenotype of both atypical teratoid/rhabdoid tumors and schwannomas. b Overview of SMARCB1 including the DNA-binding and SNF5 domain and the location of known pathogenic variants on a protein level in patients with RTPS1 (in yellow, based on report of Eaton et al.,³⁰) schwannomatosis (in green, based on reports of Smith et al.,^31,32 Sestini et al.,²⁸ Hadfield et al.,⁷ Boyd et al.³³ and Rousseau et al.,³⁴) Coffin–Siris syndrome (in red, based on reports of Tsurusaki et al.,^11,35 Santen et al.,¹² and Wieczorek et al.¹³), and an overlapping phenotype of multiple of these phenotypes (in purple). The patients with overlapping phenotypes are two families with both atypical teratoid/rhabdoid tumors (AT/RTs) and schwannomas (p.Gln123* and p.Arg158*) and a male with both Coffin–Siris syndrome and schwannomas (p.Arg374Gln)