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. Author manuscript; available in PMC: 2024 Aug 1.
Published in final edited form as: Amyotroph Lateral Scler Frontotemporal Degener. 2023 Mar 10;24(5-6):420–435. doi: 10.1080/21678421.2023.2173015

Figure 3. Pathogenicity classification and variant types reported in ClinVar in genes previously associated with amyotrophic lateral sclerosis (ALS).

Figure 3.

All genes found on at least one of the analyzed clinical genetic testing panels (N=14) were included in the analysis. However, only genes with variants reported as associated with “ALS” or “motor neuron disease” in ClinVar are displayed in the figure. (A) Flow chart highlighting the steps taken to obtain and filter the ClinVar variants reported in genes previously associated with ALS. (B) Pathogenicity classification of all variants reported in ClinVar as associated with ALS. The total number of variants reported in ClinVar in DCTN1, FUS, MATR3, SETX, SQSTM1, and VAPB exceeded the y-axis limits of 200; for these genes, the total number of variants found in ClinVar were included on the right side of the bar plot. (C) Variant types of all variants reported in ClinVar as likely pathogenic or pathogenic for ALS. (D) Variant types of all variants reported in ClinVar as being of uncertain significance for ALS. Abbreviations: LP, likely pathogenic; P, pathogenic; VUS, variants of uncertain significance.