A: The variant NC_000019.10:g.42249546_42249547del in gene ERF is classified as 'Pathogenic' for Craniosynostosis_4|TWIST1-related_craniosynostosis. Molecular consequence: SO:0001587: nonsense. Variant type: Deletion. Disease database links: Human_Phenotype_Ontology:HP:0004443,Human_Phenotype_Ontology:HP:0004486,MONDO:MONDO:0010929,MedGen:C1833340,OMIM:600775|MONDO:MONDO:0007399,MedGen:C4551902,OMIM:123100,Orphanet:63440. Review status: criteria provided, multiple submitters, no conflicts.