Table 2.

Classification of the NF1 mutations according with pathogenicity score.

Mutation Type, n (%)	Pathogenity Score, n (%)
	1	2	3	4	5
Missense, 26 (24)	0 (0)	0 (0)	25 (96.1)	1 (3.9)	0 (0)
Truncating, 69 (63.9)	0 (0)	0 (0)	0 (0)	8 (11.6)	61 (88.4)
Splicing, 7 (6.5)	0 (0)	0 (0)	0 (0)	7 (100)	0 (0)
Silent, 3 (2.8)	0 (0)	0 (0)	3 (100)	0 (0)	0 (0)
In-frame, 3 (2.8)	0 (0)	0 (0)	1 (33.3)	0 (0)	2 (66.7)
Total, 108	0 (0)	0 (0)	29 (26.9)	16 (14.8)	63 (58.3)