A: The variant NC_000019.10:g.49129994CT[1] in gene PPFIA3 is classified as 'Pathogenic' for PPFIA3-associated_neurodevelopmental_disorder. Molecular consequence: SO:0001589: frameshift_variant,SO:0001619: non-coding_transcript_variant. Variant type: Microsatellite. Disease database links: .. Review status: criteria provided, single submitter.