A: The variant NC_000019.10:g.49134887C>T in gene PPFIA3 is classified as 'Pathogenic/Likely_pathogenic' for PPFIA3-related_disorder|PAUL-CHAO_NEURODEVELOPMENTAL_SYNDROME. Molecular consequence: SO:0001583: missense_variant,SO:0001619: non-coding_transcript_variant. Variant type: single_nucleotide_variant. Disease database links: .|MedGen:CN379174,OMIM:621122. Review status: no assertion criteria provided.