A: The variant NC_000022.11:g.28725278G>A in gene CHEK2 is classified as 'Pathogenic/Likely_pathogenic' for Congenital_heart_defects,_multiple_types,_3|CHEK2-related_cancer_predisposition|Gastric_cancer|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Hereditary_breast_ovarian_cancer_syndrome|Bone_osteosarcoma|Prostate_cancer|not_provided. Molecular consequence: SO:0001587: nonsense,SO:0001623: 5_prime_UTR_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0013988,MedGen:C3554194,OMIM:614954|MONDO:MONDO:0700271,MedGen:C5882668,OMIM:609265,Orphanet:524|Human_Phenotype_Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|MONDO:MONDO:0002629,MedGen:C0585442,OMIM:259500,Orphanet:668|Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,Orphanet:1331|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.