A: The variant NC_000020.11:g.38727867T>A in gene SLC32A1 is classified as 'Pathogenic' for Developmental_and_epileptic_encephalopathy_114. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0958331,MedGen:C5935598,OMIM:620774. Review status: no assertion criteria provided.