A: The variant NC_000019.10:g.42249460G>A in gene ERF is classified as 'Pathogenic/Likely_pathogenic' for not_provided|TWIST1-related_craniosynostosis|Noonan_Syndrome-like_developmental_disorder. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MONDO:MONDO:0007399,MedGen:C4551902,OMIM:123100,Orphanet:63440|.. Review status: criteria provided, multiple submitters, no conflicts.