A: The variant NC_000019.10:g.35546813G>A in gene TMEM147 is classified as 'Pathogenic/Likely_pathogenic' for not_provided|Poor_speech|Intellectual_disability,_severe|Abnormal_facial_shape|Absent_speech|Motor_delay|Neurodevelopmental_disorder_with_facial_dysmorphism,_absent_language,_and_pseudo-pelger-huet_anomaly. Molecular consequence: SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|Human_Phenotype_Ontology:HP:0002465,MedGen:C1848207|Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857|Human_Phenotype_Ontology:HP:0001999,Human_Phenotype_Ontology:HP:0002004,Human_Phenotype_Ontology:HP:0002260,Human_Phenotype_Ontology:HP:0004643,Human_Phenotype_Ontology:HP:0004649,Human_Phenotype_Ontology:HP:0004652,Human_Phenotype_Ontology:HP:0004655,Human_Phenotype_Ontology:HP:0004675,Human_Phenotype_Ontology:HP:0005124,MedGen:C0424503|Human_Phenotype_Ontology:HP:0001344,Human_Phenotype_Ontology:HP:0001617,Human_Phenotype_Ontology:HP:0006798,MedGen:C1854882|Human_Phenotype_Ontology:HP:0001270,Human_Phenotype_Ontology:HP:0001307,Human_Phenotype_Ontology:HP:0002130,Human_Phenotype_Ontology:HP:0006788,Human_Phenotype_Ontology:HP:0006826,Human_Phenotype_Ontology:HP:0006909,Human_Phenotype_Ontology:HP:0006950,Human_Phenotype_Ontology:HP:0006968,Human_Phenotype_Ontology:HP:0007219,Human_Phenotype_Ontology:HP:0007251,MedGen:C1854301|MONDO:MONDO:0859298,MedGen:C5774232,OMIM:620075. Review status: criteria provided, multiple submitters, no conflicts.