A: The variant NC_000020.11:g.19990157_19990158del in gene RIN2 is classified as 'Pathogenic' for RIN2_syndrome. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0013115,MedGen:C2751321,OMIM:613075,Orphanet:217335. Review status: no assertion criteria provided.