A: The variant NC_000021.9:g.41767085G>C in gene RIPK4 is classified as 'Uncertain_significance' for Popliteal_pterygium_syndrome. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0017435,MedGen:C0265259,Orphanet:294963. Review status: criteria provided, single submitter.