Neurofibromatosis type I (NF1) and bone involvement in a pediatric setting: insights from FGF23 levels

Table 1 Patients’ genetic data N = 31

Patient	Mutation	Type	ACMG^a	ClinVar^b
1	NM_000267.3:c.663G > A	nonsense	P	P
2	NM_000267.3:c.5681 T > C	missense	LP	P/LP
3	NM_000267.3:c.1885G > A	missense	LP	P
4	NM_000267.3:c.1885G > A	missense	LP	P
5	NM_000267.3:c.2409 + 1G > T	missense	P	P
6	NM_000267.3:c.1885G > A	missense	LP	P
7	NM_000267.3:c.5426G > C	missense	P	P
8	NM_000267.3:c.3525_3526del	frameshift	P	P
9	NM_000267.3:c.3104 T > G	missense	P	P
10	NM_000267.3:c.6365-2A > G	splicing	P	P
11	NM_000267.3:c.3228_3229insACT	In-frame	LP	/
12	NM_000267.3:c.6364 + 4A > G	intronica	LP	P
13	17q11.2 microdeletion	Del		P
14	NM_000267.3:c.5520 T > G	missense	P	LP
15	NM_000267.3:c.3520C > T	nonsense	P	P
16	NM_000267.3:c.1885G > A	missense	LP	P
17	17q11.2 microdeletion	Del		P
18	NM_000267.3:c.4537C > T	nonsense	P	P
19	NM_000267.3:c.5839C > T	nonsense	P	P
20	NM_000267.3:c.1466A > G	missense	P	P
21	17q11.2 microdeletion	Del		P
22	NM_000267.3:c.5248A > G	missense	LP	P/LP
23	NM_000267.3:c.99A > G	sinonima	LP	VUS/P
24	NM_000267.3:c.5944-1G > T	splicing	P	P
25	NM_000267.3:c.2407C > T	nonsense	P	P
26	NM_000267.3:c.4515 G > C; r.4514_4515 ins 14 bp (TTTGCTGTATCTAG) p.Arg1505Ser *53	splicing	VUS	/
27	NM_000267.3:c.1756_1759del	frameshift	P	P
28	NM_000267.3:c.5425C > T	missense	P	P
29	NA
30	NA
31	17q11.2 microdeletion	Del		P

^aACMG American College of Medical Genetics and Genomics guidance for the interpretation of sequence variants
^bClinVar ClinVar database

ISSN: 1824-7288