A: The variant NC_000021.9:g.41744003dup in gene RIPK4 is classified as 'Pathogenic' for Bartsocas-Papas_syndrome_1. Molecular consequence: SO:0001587: nonsense. Variant type: Duplication. Disease database links: MONDO:MONDO:0009901,MedGen:C1849718,OMIM:263650,Orphanet:1234. Review status: no assertion criteria provided.