A: The variant NC_000019.10:g.39393630T>C in gene MED29 is classified as 'Pathogenic' for pontocerebellar_hypoplasia_with_cataract. Molecular consequence: SO:0001583: missense_variant,SO:0001619: non-coding_transcript_variant. Variant type: single_nucleotide_variant. Disease database links: .. Review status: criteria provided, single submitter.