A: The variant NC_000020.11:g.45425806C>T in gene PIGT is classified as 'Uncertain_significance' for Multiple_congenital_anomalies-hypotonia-seizures_syndrome_3|High_myopia. Molecular consequence: SO:0001587: nonsense,SO:0001619: non-coding_transcript_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014165,MedGen:C3809356,OMIM:615398,Orphanet:369837|Human_Phenotype_Ontology:HP:0000569,Human_Phenotype_Ontology:HP:0011003,MedGen:C0271183. Review status: criteria provided, single submitter.