A: The variant NC_000020.11:g.10293197T>A in gene SNAP25 is classified as 'Pathogenic/Likely_pathogenic' for Inborn_genetic_diseases|Congenital_myasthenic_syndrome_18|Early_infantile_epileptic_encephalopathy_with_suppression_bursts. Molecular consequence: SO:0001583: missense_variant,SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014590,MedGen:C4225364,OMIM:616330,Orphanet:590|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350,Orphanet:1934. Review status: criteria provided, multiple submitters, no conflicts.