A: The variant NC_000020.11:g.19975756dup in gene RIN2 is classified as 'Pathogenic' for RIN2_syndrome|not_provided. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0013115,MedGen:C2751321,OMIM:613075,Orphanet:217335|MedGen:C3661900. Review status: criteria provided, single submitter.