A: The variant NC_000019.10:g.42249493G>A in gene ERF is classified as 'Pathogenic' for TWIST1-related_craniosynostosis|Noonan_Syndrome-like_developmental_disorder|Inborn_genetic_diseases|not_provided. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0007399,MedGen:C4551902,OMIM:123100,Orphanet:63440|.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.