A: The variant NC_000019.10:g.52212721T>G in gene PPP2R1A is classified as 'Likely_pathogenic' for See_cases. Molecular consequence: SO:0001582: initiator_codon_variant,SO:0001583: missense_variant,SO:0001619: non-coding_transcript_variant. Variant type: single_nucleotide_variant. Disease database links: .. Review status: criteria provided, single submitter.