Table 1. Germline LZTR1 variants in schwannomatosis families.

				LZTR1a
Family	Sample	Inheritance	Affected	Variant	Effect
3701		De novo	Yes	c.212A>G	p.(His71Arg)
422	I:2		No	c.243T>G	p.(Tyr81*)
	II:1	De novo	Yes	c.243T>G	p.(Tyr81*)
467b	I:1		No	c.352dupC	p.(Arg118Profs*28)
	II:1	De novo	Yes	c.352dupC	p.(Arg118Profs*28)
318		De novo	Yes	c.373_375delGTC	p.(Val125del)
302		De novo	Yes	c.513delG	p.(Leu171Phefs*29)
268		De novo	Yes	c.555_556dupCA	p.(Lys186Thrfs*15)
244		De novo	Yes	c.560T>G	p.(Leu187Arg)
288		De novo	Yes	c.628C>T	p.(Arg210*)
3857b	II:1	Familial	Yes	c.791+1G>A	r.spl?
	II:2	Familial	Yes	c.791+1G>A	r.spl?
388		De novo	Yes	c.850C>T	p.(Arg284Cys)
325		De novo	Yes	c.1018C>T	p.(Arg340*)
476		De novo	Yes	c.1199T>G	p.(Met400Arg)
176b	I:1	De novo	Yes	c.1373dupG	p.(His459Profs*210)
	II:1	Familial	Yes	c.1373dupG	p.(His459Profs*210)
183		De novo	Yes	c.1394C>A	p.(Ala465Glu)
389		De novo	Yes	c.1486delG	p.(Ala496Profs*60)
307b	I:1		No	c.1602delA	p.(Lys534Asnfs*22)
	II:1	Familial	Yes	Wild type
	II:2	Familial	Yes	c.1602delA	p.(Lys534Asnfs*22)
174		De novo	Yes	c.1779delA	p.(Gln593Hisfs*7)
148	I:1		No	c.1807delG	p.(Val603*)
	II:1	De novo	Yes	c.1807delG	p.(Val603*)
504		De novo	Yes	c.2089C>T	p.(Arg697Trp)
408	I:1		No	c.2278T>C	p.(Cys760Arg)
	II:1	De novo	Yes	c.2278T>C	p.(Cys760Arg)
259		De novo	Yes	c.2284C>T	p.(Gln762*)
381		De novo	Yes	c.2487dupA	p.(Asp830Argfs*21)

^aReference LZTR1 sequence: NM_006767.3. Nucleotide numbering starts with the A of the ATG translation initiation codon as +1.

^bVariants identified by exome sequencing.