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 EGFR gene EGFR Expert Review Amber;Literature Endocrine neoplasia MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Adrenocortical carcinoma 33326033 False 2 0;100;0 3.3 False ENSG00000146648 ENSG00000146648 HGNC:3236 MLH1 gene MLH1 Expert list;Expert Review Amber Endocrine neoplasia MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 2 0;100;0 3.3 False ENSG00000076242 ENSG00000076242 HGNC:7127 MSH2 gene MSH2 Expert list;Expert Review Amber Endocrine neoplasia MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 2 0;100;0 3.3 False ENSG00000095002 ENSG00000095002 HGNC:7325 MSH6 gene MSH6 Expert list;Expert Review Amber Endocrine neoplasia MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 2 0;100;0 3.3 False ENSG00000116062 ENSG00000116062 HGNC:7329 PMS2 gene PMS2 Expert Review;Expert Review Amber Endocrine neoplasia MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 2 0;100;0 3.3 False ENSG00000122512 ENSG00000122512 HGNC:9122 PTEN gene PTEN Expert list;Expert Review Amber Endocrine neoplasia MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 2 0;100;0 3.3 False ENSG00000171862 ENSG00000171862 HGNC:9588 TP53 gene TP53 Expert Review;Expert Review Amber Endocrine neoplasia MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Endocrine Cancer;Paragangliomas 1, with or without deafness, 168000;Pheochromocytoma, 171300;Carcinoid tumors, intestinal, 114900;Merkel cell carcinoma, somatic;Paraganglioma and gastric stromal sarcoma, 606864;Cowden syndrome 3, 615106 False 2 0;100;0 3.3 False ENSG00000141510 ENSG00000141510 HGNC:11998