A: The variant NC_000019.10:g.46756276C>A in gene FKRP is classified as 'Pathogenic/Likely_pathogenic' for FKRP-related_muscular_dystrophy-dystroglycanopathy|Cardiovascular_phenotype|Myopathy_caused_by_variation_in_FKRP|Limb-girdle_muscular_dystrophy|Difficulty_climbing_stairs|Scapular_winging|Difficulty_standing|Difficulty_walking|Gait_imbalance|Muscle_weakness|Paresthesia|Headache|Walker-Warburg_congenital_muscular_dystrophy|FKRP-related_disorder|Muscular_dystrophy-dystroglycanopathy_type_B5|Muscular_dystrophy-dystroglycanopathy|Neuronopathy,_distal_hereditary_motor,_type_2B|Nizon-Isidor_syndrome|Myopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A5|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2I|not_provided|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: .|MedGen:CN230736|MONDO:MONDO:0700066,MedGen:CN305637|Human_Phenotype_Ontology:HP:0006785,Human_Phenotype_Ontology:HP:0009066,MONDO:MONDO:0016971,MedGen:C0686353,Orphanet:263|Human_Phenotype_Ontology:HP:0003551,Human_Phenotype_Ontology:HP:0007019,MedGen:C0239067|Human_Phenotype_Ontology:HP:0000783,Human_Phenotype_Ontology:HP:0003691,MedGen:C0240953|Human_Phenotype_Ontology:HP:0003698,MedGen:C0241237|Human_Phenotype_Ontology:HP:0002355,Human_Phenotype_Ontology:HP:0007101,Human_Phenotype_Ontology:HP:0009030,MedGen:C0311394|Human_Phenotype_Ontology:HP:0002141,Human_Phenotype_Ontology:HP:0100683,MedGen:C1836150|Human_Phenotype_Ontology:HP:0001324,Human_Phenotype_Ontology:HP:0002309,Human_Phenotype_Ontology:HP:0008979,Human_Phenotype_Ontology:HP:0009012,Human_Phenotype_Ontology:HP:0009061,MedGen:C0151786|Human_Phenotype_Ontology:HP:0002082,Human_Phenotype_Ontology:HP:0003401,MedGen:C0030554|Human_Phenotype_Ontology:HP:0000266,Human_Phenotype_Ontology:HP:0001354,Human_Phenotype_Ontology:HP:0002315,MedGen:C0018681|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670,Orphanet:899|.|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612,Orphanet:52428|MONDO:MONDO:0018276,MedGen:C5679911,Orphanet:370953|MONDO:MONDO:0012080,MedGen:C2608087,OMIM:608634,Orphanet:139525|MONDO:MONDO:0030030,MedGen:C5394350,OMIM:618872|Human_Phenotype_Ontology:HP:0003198,Human_Phenotype_Ontology:HP:0003569,Human_Phenotype_Ontology:HP:0003705,Human_Phenotype_Ontology:HP:0003742,Human_Phenotype_Ontology:HP:0003802,MONDO:MONDO:0005336,MeSH:D009135,MedGen:C0026848|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600,Orphanet:102015|MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153,Orphanet:588,Orphanet:899|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155,Orphanet:34515|MedGen:C3661900|MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670,Orphanet:588,Orphanet:899. Review status: criteria provided, multiple submitters, no conflicts.