A: The variant NC_000020.11:g.58891811C>T in gene GNAS is classified as 'Pathogenic' for Pseudohypoparathyroidism_type_1B|Obesity|Hypocalcemia|Tetany|Subcutaneous_nodule|Cognitive_impairment|Round_face|Short_stature|Brachydactyly|Pseudopseudohypoparathyroidism|Progressive_osseous_heteroplasia|Pituitary_adenoma_3,_multiple_types|Cushing_syndrome|Pseudohypoparathyroidism|Pseudohypoparathyroidism_type_1C|McCune-Albright_syndrome|not_provided. Molecular consequence: SO:0001587: nonsense,SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0011301,MedGen:C1864100,OMIM:603233,Orphanet:94089|Human_Phenotype_Ontology:HP:0001513,MONDO:MONDO:0011122,MeSH:D009765,MedGen:C0028754,Orphanet:71529|Human_Phenotype_Ontology:HP:0002901,MedGen:C0020598|Human_Phenotype_Ontology:HP:0001281,MedGen:C0039621|Human_Phenotype_Ontology:HP:0001482,Human_Phenotype_Ontology:HP:0005903,MedGen:C0151811|Human_Phenotype_Ontology:HP:0002128,Human_Phenotype_Ontology:HP:0002129,Human_Phenotype_Ontology:HP:0002302,Human_Phenotype_Ontology:HP:0002337,Human_Phenotype_Ontology:HP:0002441,Human_Phenotype_Ontology:HP:0006972,Human_Phenotype_Ontology:HP:0006998,Human_Phenotype_Ontology:HP:0007211,Human_Phenotype_Ontology:HP:0100543,MedGen:C0338656|Human_Phenotype_Ontology:HP:0000304,Human_Phenotype_Ontology:HP:0000311,Human_Phenotype_Ontology:HP:0004653,MedGen:C0239479|Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588|Human_Phenotype_Ontology:HP:0001156,Human_Phenotype_Ontology:HP:0001189,Human_Phenotype_Ontology:HP:0001201,Human_Phenotype_Ontology:HP:0005630,Human_Phenotype_Ontology:HP:0005657,Human_Phenotype_Ontology:HP:0005727,Human_Phenotype_Ontology:HP:0006017,Human_Phenotype_Ontology:HP:0006128,Human_Phenotype_Ontology:HP:0100667,MONDO:MONDO:0021004,MedGen:C0221357|MONDO:MONDO:0012912,MedGen:C0033835,OMIM:612463,Orphanet:79445|Human_Phenotype_Ontology:HP:0025027,MONDO:MONDO:0008153,MedGen:C0334041,OMIM:166350,Orphanet:2762|MONDO:MONDO:0054665,MedGen:C4540135,OMIM:617686|MONDO:MONDO:0018912,MedGen:C0010481,Orphanet:189427|Human_Phenotype_Ontology:HP:0000852,MONDO:MONDO:0019992,MedGen:C0033806,Orphanet:79443,Orphanet:97593|MONDO:MONDO:0012911,MedGen:C2932716,OMIM:612462,Orphanet:79444|MONDO:MONDO:0018919,MedGen:C0242292,OMIM:174800,Orphanet:562|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.