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Table 2 Point variations and phenotypic description of the patients exhibiting a SMARCB1 variation

From: SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis

Patient Exon Nucleotide change Expected effect Sex Age Disease
N00390 1 c.30del p.Phe10LeufsX6 F 35 11 non-vestibular schwannomas
N00837 1 c.34C > T p.Gln12X F 24 Multiple spinal schwannomas
N00328 4 (ivs) c.[500+5G > T,505G > T] p.[Arg121_Cys167delinsSer,Gly169X] M 27 1 facial nerve
       7 spinal schwannomas
       2 meningiomas
N00106 5 (ivs) c.501-23T > G - M 56 2 spinal schwannomas
N00225 7 c.832C > T p.Gln278X M 22 Multiple schwannomas and meningiomas
N00334 7 c.971_978delinsTGCTACCT p.Lys324_Tyr326delinsIleLeuPro M 30 Unilateral V-, VII-, spinal schwannomas
12 cases   c.[897G > A;986+57_986+58dup;1119-41G > A]