A: The variant NC_000019.10:g.42249934T>C in gene ERF is classified as 'Pathogenic' for not_provided|Inborn_genetic_diseases|Chitayat_syndrome. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014956,MedGen:C4310679,OMIM:617180. Review status: criteria provided, multiple submitters, no conflicts.