A: The variant NC_000020.11:g.49374320T>C in gene KCNB1 is classified as 'Likely_pathogenic' for Marfanoid_habitus_and_intellectual_disability. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:CN263130. Review status: criteria provided, single submitter.