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 BRCA1 gene BRCA1 Expert list;Expert Review Green Additional findings health related - CNV analysis adult specific MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Breast-ovarian cancer, familial, 1}, OMIM:604370;Adult only False 3 0;0;0 1.2 False ENSG00000012048 ENSG00000012048 HGNC:1100 BRCA2 gene BRCA2 Expert list;Expert Review Green Additional findings health related - CNV analysis adult specific MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Breast-ovarian cancer, familial, 2}, OMIM:612555;{Breast cancer, male, susceptibility to}, OMIM:114480;Adult only False 3 0;0;0 1.2 False ENSG00000139618 ENSG00000139618 HGNC:1101 MLH1 gene MLH1 Expert list;Expert Review Green Additional findings health related - CNV analysis adult specific MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Bowel cancer predisposition;Adult only;Hereditary non-polyposis colorectal cancer False 3 0;0;0 1.2 False ENSG00000076242 ENSG00000076242 HGNC:7127 MSH2 gene MSH2 Expert list;Expert Review Green Additional findings health related - CNV analysis adult specific MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Bowel cancer predisposition;Adult only;Hereditary non-polyposis colorectal cancer False 3 0;0;0 1.2 False ENSG00000095002 ENSG00000095002 HGNC:7325 MSH6 gene MSH6 Expert Review Green;Other Additional findings health related - CNV analysis adult specific MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Bowel cancer predisposition;Adult only;Hereditary non-polyposis colorectal cancer False 3 0;0;0 1.2 False ENSG00000116062 ENSG00000116062 HGNC:7329 MUTYH gene MUTYH Expert Review Green;Other Additional findings health related - CNV analysis adult specific BIALLELIC, autosomal or pseudoautosomal Adult only;Bowel cancer predisposition;MYH-associated polyposis False 3 0;0;0 1.2 False ENSG00000132781 ENSG00000132781 HGNC:7527