Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name APC gene APC Expert list;Expert Review Green Additional findings health related - CNV analysis children MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial Adenomatous Polyposis;Adult and child;Bowel cancer predisposition False 3 0;0;0 1.0 False ENSG00000134982 ENSG00000134982 HGNC:583 LDLR gene LDLR Expert list;Expert Review Green Additional findings health related - CNV analysis children MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial hypercholesterolaemia;Adult and child False 3 0;0;0 1.0 False ENSG00000130164 ENSG00000130164 HGNC:6547 MEN1 gene MEN1 Expert list;Expert Review Green Additional findings health related - CNV analysis children MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myltiple endocrine Neoplasia Type 1;Other cancer predisposition;Adult and child False 3 0;0;0 1.0 False ENSG00000133895 ENSG00000133895 HGNC:7010 VHL gene VHL Expert Review Green;Other Additional findings health related - CNV analysis children MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Von Hippel Lindau Syndrome;Other cancer predisposition;Adult and child False 3 0;0;0 1.0 False ENSG00000134086 ENSG00000134086 HGNC:12687