A: The variant NC_000019.10:g.49139996A>G in gene PPFIA3 is classified as 'Likely_pathogenic' for PPFIA3-related_disorder. Molecular consequence: SO:0001583: missense_variant,SO:0001619: non-coding_transcript_variant. Variant type: single_nucleotide_variant. Disease database links: .. Review status: no assertion criteria provided.