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Dong et al. Neuroimmunol Neuroinflammation 2018;5:5 I http://dx.doi.org/10.20517/2347-8659.2017.47 Page 5 of 10

Table 1. List of all TARDBP related mutations in ALS condition
Clinical Variation Allele
Name Gene(s) Condition(s) significance ID ID
NM_007375.3(TARDBP):c.-126G>T TARDBP FTD, ALS, dominant Uncertain 291727 275977
significance
NM_007375.3(TARDBP):c.-122G>A TARDBP FTD Benign 291728 275978
NM_007375.3(TARDBP):c.-117G>A TARDBP FTD, ALS, dominant Uncertain 291729 275982
significance
NM_007375.3(TARDBP):c.-110C>T TARDBP FTD, ALS, dominant Uncertain 291730 275839
significance
NM_007375.3(TARDBP):c.-77G>A TARDBP FTD, ALS, dominant Uncertain 291731 275812
significance
NM_007375.3(TARDBP):c.-42C>T TARDBP FTD, ALS, dominant Uncertain 291732 275983
significance
NM_007375.3(TARDBP):c.-12-10_-12-9delTT TARDBP FTD, ALS, dominant Likely benign 291733 275813
NM_007375.3(TARDBP):c.87C>T (p.Ser29=) TARDBP Not provided Uncertain 444152 437792
significance
NM_007375.3(TARDBP):c.198T>C (p.Ala66=) TARDBP FTD not specified/ALS, Benign/likely 291734 275840
dominant benign
NM_007375.3(TARDBP):c.238+9C>T TARDBP FTD, ALS, dominant Likely benign 291735 275850
NM_007375.3(TARDBP):c.239-15G>A TARDBP FTD, ALS, dominant Uncertain 291736 275814
significance
NM_007375.3(TARDBP):c.499A>G (p.Met167Val) TARDBP FTD, ALS, dominant Uncertain 291737 275988
significance
NM_007375.3(TARDBP):c.506A>G TARDBP ALS type 10 Conflicting 5233 20272
(p.Asp169Gly) interpretations of
pathogenicity
NM_007375.3(TARDBP):c.675A>G (p.Pro225=) TARDBP FTD, ALS, dominant Likely benign 291738 275815
NM_007375.3(TARDBP):c.720G>A (p.Ala240=) TARDBP FTD, ALS, dominant Uncertain 291739 275851
significance
NM_007375.3(TARDBP):c.859G>A (p.Gly287Ser) TARDBP ALS type 10/motor neuron Conflicting 21483 34335
disease interpretations of
pathogenicity
NM_007375.3(TARDBP):c.869G>C (p.Gly290Ala) TARDBP ALS type 10 Pathogenic 5231 20270
NM_007375.3(TARDBP):c.881G>T (p.Gly294Val) TARDBP ALS type 10 Pathogenic 21484 34336
NM_007375.3(TARDBP):c.881G>C (p.Gly294Ala) TARDBP ALS type 10 Pathogenic 5230 20269
NM_007375.3(TARDBP):c.883G>A (p.Gly295Ser) TARDBP ALS type 10 Pathogenic 21485 34337
NM_007375.3(TARDBP):c.892G>A (p.Gly298Ser) TARDBP ALS type 10 Pathogenic 5232 20271
NM_007375.3(TARDBP):c.943G>A (p.Ala315Thr) TARDBP ALS type 10 Pathogenic 5236 20275
NM_007375.3(TARDBP):c.945G>A (p.Ala315=) TARDBP Not provided Uncertain 374720 361606
significance
NM_007375.3(TARDBP):c.991C>A (p.Gln331Lys) TARDBP ALS type 10 Pathogenic 5229 20268
NM_007375.3(TARDBP):c.1009A>G TARDBP ALS type 10 Pathogenic 5228 20267
(p.Met337Val)
NM_007375.3(TARDBP):c.1028A>G TARDBP ALS type 10 Pathogenic 5235 20274
(p.Gln343Arg)
NM_007375.3(TARDBP):c.1042G>T TARDBP ALS type 10/not provided Pathogenic 5234 20273
(p.Gly348Cys)
NM_007375.3(TARDBP):c.1043G>T (p.Gly348Val) TARDBP Motor neuron disease Pathogenic 266064 260865
NM_007375.3(TARDBP):c.1098C>G (p.Ala366=) TARDBP FTD not specified/ALS, Benign/likely 291740 275852
Dominant benign
NM_007375.3(TARDBP):c.1122T>G (p.Tyr374Ter) TARDBP Motor neuron disease Uncertain 266065 260866
significance
NM_007375.3(TARDBP):c.1144G>A TARDBP ALS type 10/FTD with TDP43 Pathogenic/likely 21474 34326
(p.Ala382Thr) inclusions, TARDBP-related/ pathogenic
not provided
NM_007375.3(TARDBP):c.1150G>C TARDBP ALS type 10 Pathogenic 190399 188225
(p.Gly384Arg)
NM_007375.3(TARDBP):c.1153T>G (p.Trp385Gly) TARDBP ALS type 10 Pathogenic 190400 188226
NM_007375.3(TARDBP):c.*83T>C TARDBP ALS type 10 Pathogenic 21465 34317
NM_007375.3(TARDBP):c.*129T>C TARDBP FTD, ALS, dominant Uncertain 291741 276082
significance
NM_007375.3(TARDBP):c.*159A>C TARDBP FTD, ALS, dominant Uncertain 291742 275989
significance