A: The variant NC_000020.11:g.45293832G>T in gene MATN4 is classified as 'Uncertain_significance' for Holoprosencephaly_sequence. Molecular consequence: SO:0001624: 3_prime_UTR_variant,SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0001360,Human_Phenotype_Ontology:HP:0009807,MONDO:MONDO:0016296,MedGen:C0079541,OMIM:PS236100,Orphanet:2162. Review status: criteria provided, single submitter.