A: The variant NC_000019.10:g.46755578C>G in gene FKRP is classified as 'Uncertain_significance' for Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2I|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A5|Muscular_dystrophy-dystroglycanopathy_type_B5|Primary_dilated_cardiomyopathy. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155,Orphanet:34515|MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153,Orphanet:588,Orphanet:899|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612,Orphanet:52428|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604. Review status: criteria provided, single submitter.