A: The variant NC_000019.10:g.48419803A>C in gene GRIN2D is classified as 'Pathogenic' for Developmental_and_epileptic_encephalopathy,_46. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014947,MedGen:C4310687,OMIM:617162. Review status: no assertion criteria provided.