A: The variant NC_000019.10:g.40523602G>T in gene SPTBN4 is classified as 'Pathogenic' for Neurodevelopmental_disorder_with_hypotonia,_neuropathy,_and_deafness|not_provided. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0060496,MedGen:C4479603,OMIM:617519|MedGen:CN517202. Review status: criteria provided, single submitter.