A: The variant NC_000021.9:g.10602055_10602056del in gene TPTE is classified as 'Uncertain_significance' for Macrocephaly|Autism_spectrum_disorder. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: Deletion. Disease database links: Human_Phenotype_Ontology:HP:0000256,Human_Phenotype_Ontology:HP:0005491,Human_Phenotype_Ontology:HP:0005496,Human_Phenotype_Ontology:HP:0200135,MedGen:C2243051|MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586,Orphanet:106. Review status: criteria provided, single submitter.