A: The variant NC_000019.10:g.42248910_42248911del in gene ERF is classified as 'Pathogenic/Likely_pathogenic' for TWIST1-related_craniosynostosis|Noonan_Syndrome-like_developmental_disorder|ERF-related_disorder|Craniosynostosis_4|Neurodevelopmental_disorder|Chitayat_syndrome|not_provided. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0007399,MedGen:C4551902,OMIM:123100,Orphanet:63440|.|.|Human_Phenotype_Ontology:HP:0004443,Human_Phenotype_Ontology:HP:0004486,MONDO:MONDO:0010929,MedGen:C1833340,OMIM:600775|MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926|MONDO:MONDO:0014956,MedGen:C4310679,OMIM:617180|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.