A: The variant NC_000020.11:g.2860773G>T in gene VPS16 is classified as 'Uncertain_significance' for Coarse_facial_features|Splenomegaly|Decreased_total_neutrophil_count|Peripheral_neuropathy. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0000280,Human_Phenotype_Ontology:HP:0000281,Human_Phenotype_Ontology:HP:0004640,MedGen:C1845847|Human_Phenotype_Ontology:HP:0001744,Human_Phenotype_Ontology:HP:0001745,Human_Phenotype_Ontology:HP:0006269,MedGen:C0038002|Human_Phenotype_Ontology:HP:0001875,Human_Phenotype_Ontology:HP:0005515,Human_Phenotype_Ontology:HP:0005533,MONDO:MONDO:0001475,MedGen:C0853697|Human_Phenotype_Ontology:HP:0003157,Human_Phenotype_Ontology:HP:0003407,Human_Phenotype_Ontology:HP:0007088,Human_Phenotype_Ontology:HP:0007235,Human_Phenotype_Ontology:HP:0007355,Human_Phenotype_Ontology:HP:0009830,MONDO:MONDO:0005244,MedGen:C0031117. Review status: no assertion criteria provided.