A: The variant NC_000019.10:g.40532624G>A in gene SPTBN4 is classified as 'Uncertain_significance' for Global_developmental_delay|Hypotonia|Delayed_myelination. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874|Human_Phenotype_Ontology:HP:0001252,MedGen:C0026827|Human_Phenotype_Ontology:HP:0012448,MedGen:C1277241. Review status: no assertion criteria provided.