A: The variant NC_000022.11:g.42615329G>A in gene RNU12 is classified as 'Likely_pathogenic' for Craniosynostosis-anal_anomalies-porokeratosis_syndrome. Molecular consequence: SO:0001619: non-coding_transcript_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0011287,MedGen:C1864186,OMIM:603116,Orphanet:85199. Review status: criteria provided, single submitter.