A: The variant NC_000019.10:g.49133877C>T in gene PPFIA3 is classified as 'Pathogenic' for not_provided|PAUL-CHAO_NEURODEVELOPMENTAL_SYNDROME|PPFIA3-related_disorder. Molecular consequence: SO:0001583: missense_variant,SO:0001619: non-coding_transcript_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MedGen:CN379174,OMIM:621122|.. Review status: criteria provided, single submitter.