A: The variant NC_000020.11:g.32433408C>T in gene ASXL1 is classified as 'Pathogenic' for dystrophia|Developmental_delay|Global_developmental_delay|Small_for_gestational_age|Delayed_speech_and_language_development|Prominent_metopic_ridge|Glabellar_hemangioma|Intellectual_disability,_severe|Hypertrichosis|Abnormal_corpus_callosum_morphology|Feeding_difficulties|Delayed_gross_motor_development|Myelodysplastic_syndrome|not_provided|Bohring-Opitz_syndrome. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MedGen:CN239855|MedGen:C0424605|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:0001422,Human_Phenotype_Ontology:HP:0001518,Human_Phenotype_Ontology:HP:0008849,Human_Phenotype_Ontology:HP:0008919,Human_Phenotype_Ontology:HP:0008927,MedGen:C0235991|Human_Phenotype_Ontology:HP:0000750,Human_Phenotype_Ontology:HP:0002116,Human_Phenotype_Ontology:HP:0002117,Human_Phenotype_Ontology:HP:0002336,Human_Phenotype_Ontology:HP:0002399,Human_Phenotype_Ontology:HP:0002498,Human_Phenotype_Ontology:HP:0006936,Human_Phenotype_Ontology:HP:0007004,Human_Phenotype_Ontology:HP:0007127,Human_Phenotype_Ontology:HP:0007170,Human_Phenotype_Ontology:HP:0007172,MedGen:C0454644|Human_Phenotype_Ontology:HP:0005487,Human_Phenotype_Ontology:HP:0005488,Human_Phenotype_Ontology:HP:0005751,MedGen:C1857949|Human_Phenotype_Ontology:HP:0001076,MedGen:C1854408|Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857|Human_Phenotype_Ontology:HP:0000998,MONDO:MONDO:0019280,MedGen:C0020555,Orphanet:79365|Human_Phenotype_Ontology:HP:0001273,Human_Phenotype_Ontology:HP:0007323,MedGen:C1842581|Human_Phenotype_Ontology:HP:0011968,MedGen:C0232466|Human_Phenotype_Ontology:HP:0002194,Human_Phenotype_Ontology:HP:0006905,Human_Phenotype_Ontology:HP:0007046,Human_Phenotype_Ontology:HP:0008973,MedGen:C1837658|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|MedGen:C3661900|MONDO:MONDO:0011510,MedGen:C0796232,OMIM:605039,Orphanet:97297. Review status: criteria provided, multiple submitters, no conflicts.