Table 2.

Mutations identified in those with apparently sporadic amyotrophic lateral sclerosis

Gene	Variant	Cases (n)
ANG	p.K78E*	2
	p.R146H	1
C9orf72	Expansion mutation*	36
DAO	p.R199Q	1
DCTN1	p.V1081M	1
	p.T12A	1
	p.R785W	1
FUS	p.R269W	1
	p.R521C	1
	p.P431L	1
	p.R521L	1
	p.G507D	1
	p.221_221del	1
OPTN	p.R545Q	1
	Exon 7/Intron 7 splice site	1
	p.Q441X	1
	p.E380fs	1
	p.V295F	1
	p.N303K	1
	p.G509R	1
	p.A184V*	1
	p.K413fs*	1
	p.R271H*	1
	p.F226S	1
PFN1	p.E117D*	1
	p.E117G*	1
SOD1	p.D91A	1
	p.T40A*	1
	p.S135G*	1
	p.I114T	2
	p.L9V	1
SQSTM1	p.K238E*	7
	p.P392L*	2
TARDBP	p.G287S*	3
	p.A90V	1
UBQLN2	p.A603D	1
	p.T334M	3
	p.L87F	1
	p.P497H	1
	p.496_499del	1
VAPB	p.158_159del*	7
	p.M170I*	5
	p.R184Q	1
VCP	p.I114V	1
	p.G523V	1
Total		103 variants (95 people)

In some cases, an individual had more than one pathogenic gene variant; such cases are indicated by an asterisk and counted for each variant. Three of these had C9orf72 expansion as one of the variants.