Table 1 Mutations in SH3BP2

c.1244G>C

p.Arg415Pro

9

cherubism

germline

Ueki et al. (2001)

c.1244G>A

p.Arg415Gln

9

cherubism

germline

Ueki et al. (2001)

c.1253C>T

p.Pro418Leu

9

cherubism

germline

Ueki et al. (2001)

c.1253C>G

p.Pro418Arg

9

cherubism

germline

Ueki et al. (2001)

c.1253C>A

p.Pro418His

9

cherubism

germline

Ueki et al. (2001)

c.1252C>A

p.Pro418Thr

9

cherubism

germline

de Lange et al. (2007)

c.1256A>G

p.Gln419Gly

9

cherubism

germline

Li and Yu (2006)

c.1255G>A

p.Asp419Asn

9

cherubism

germline

Lietman et al. (2006)

c.1258G>C

p.Gly420Arg

9

cherubism

germline

Ueki et al. (2001)

c.1258G>A

p.Gly420Arg

9

cherubism

germline

Lo et al. (2001)

c.1259G>A

p.Gly420Glu

9

cherubism

germline

Ueki et al. (2001)

c.147delCtranslation stop at nt325 (TGA)

p.Arg49ArgfsX26

3

severe cherubism

germline

Carvalho et al. (2008)

c.320C>T

p.Thr107Met

4

cherubism

germline

Carvalho et al. (2009)

c.1442A>T

p.Gln481Leu

11

giant cell granuloma

somatic

Carvalho et al. (2009)