Table 3

Variants of unconfirmed significance with potential for pathogenicity in ALS-associated genes

Sample	Gene	Genomic variant	Protein change (HGVSp canonical)	Population frequency (gnomAD)	Deleterious score (CADD)
SHF-029	ALS2	chr2:g.202626478C>T	p.Ser80Asn	None	15.15
SHF-147	ALS2	chr2:g.202609025A>G	p.Leu709Pro	None	28.9
SHF-082	ANXA11	chr10:g.81930624G>C	p.Pro35Ala	0.00012	22.4
SHF-139	ARHGEF28	chr5:g.73181708C>T	p.Ala1030Val	7.00E−05	28.5
SHF-159	ARHGEF28	chr5:g.73200229A>T	p.Gln1387Leu	None	34
SHF-110	ATXN2	chr12:g.112036798TGCTGCTGCTGCTGCTGCTGC>T	p.Gln168AlafsTer75	2.00E−05
SHF-129	CHMP2B	chr3:g.87289902A>G	p.Arg30Gly	0.00013	26
SHF-035	DCTN1	chr2:g.74597128C>G	p.Glu452Asp	None	25.9
SHF-127	DCTN1	chr2:g.74594023G>A	p.Arg785Trp	0.00018	32
SHF-095	ERBB4	chr2:g.212566786G>T	p.Asn465Lys	9.00E−05	17.1
SHF-159	EWSR1	chr22:g.29693883T>C	p.Met459Thr	1.00E−05	22.6
SHF-157	KIF5A	chr12:g.57970115C>T	p.Arg718Trp	None	27.3
SHF-062	KIF5A	chr12:g.57957406T>C	p.Val74Ala	None	26.2
SHF-097	NEK1	chr4:g.170398474A>C	p.Asn745Lys	0.00481	26.5
SHF-144	NEK1	chr4:g.170345826G>A	p.Gln1034Ter	None	35
SHF-138	NEK1	chr4:g.170458958A>G	c.1665+2T>C	1.00E−05	29.7
SHF-128	NEK1	chr4:g.170506573T>G	p.Asp245Ala	None	23
SHF-146	SETX	chr9:g.135205481G>A	p.Arg502Trp	0.00049	27.7
SHF-162	SETX	chr9:g.135211865C>T	p.Gly179Glu	0	26.6
SHF-009	SPAST	chr2:g.32289207T>TCGGCCC	p.Ala106_Pro107dup	3.00E−05	16.17
SHF-114	SPG11	chr15:g.44914544A>C	p.Val773Gly	0.00012	28.9
SHF-139	SPG11	chr15:g.44858099G>A	p.Arg2318Cys	3.00E−05	23.2
SHF-009	SPG11	chr15:g.44859639A>G	p.Ile2246Thr	3.00E−05	29.4
SHF-148	SPG20	chr13:g.36878530ACTTC>A	p.Glu657Ter	6.00E−05	23.5
SHF-057	SQSTM1	chr5:g.179250020G>A	p.Val90Met	4.00E−05	21.9
SHF-009	TAF15	chr17:g.34171988G>A	p.Arg562Gln	2.00E−05	18.24
SHF-029	TAF15	chr17:g.34171971CGGCTATGGAGGAGACCGAGGTGGG>C	p.Gly565_Gly572del	0.0001	20.9
SHF-092	TAF15	chr17:g.34171575GGGTGGCTATGGTGGAGACAGAAGCAGC>G	p.Tyr427_Gly435del	2.00E−05	21.6
SHF-103	TAF15	chr17:g.34149811G>A	p.Arg153Lys	1.00E−05	24.3
SHF-014	TARDBP	chr1:g.11082679A>G	p.Met405Val	0	21.9
SHF-062	TARDBP	chr1:g.11082430A>G	p.Met322Val	0	22.4
SHF-128	VAPB	chr20:g.56993275A>G	p.Thr23Ala	0	23.7
SHF-144	VPS54	chr2:g.64171737A>G	p.Val433Ala	None	18.2
SHF-141	VPS54	chr2:g.64189223G>C	p.Gln327Glu	1.00E−05	24.1

AMS, amyotrophic lateral sclerosis; CADD, Combined Annotation Dependent Depletion.