A: The variant NC_000019.10:g.40503890G>A in gene SPTBN4 is classified as 'Uncertain_significance' for not_provided|Neurodevelopmental_disorder_with_hypotonia,_neuropathy,_and_deafness|Inborn_genetic_diseases. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MONDO:MONDO:0060496,MedGen:C4479603,OMIM:617519|MeSH:D030342,MedGen:C0950123. Review status: criteria provided, multiple submitters, no conflicts.