A: The variant NC_000019.10:g.40549414G>T in gene SPTBN4 is classified as 'Likely_pathogenic' for Neurodevelopmental_disorder_with_hypotonia,_neuropathy,_and_deafness. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0060496,MedGen:C4479603,OMIM:617519. Review status: no assertion criteria provided.