A: The variant NC_000020.11:g.3228648dup in gene SLC4A11 is classified as 'Likely_pathogenic' for not_provided. Molecular consequence: SO:0001589: frameshift_variant,SO:0001619: non-coding_transcript_variant. Variant type: Duplication. Disease database links: MedGen:C3661900. Review status: criteria provided, single submitter.