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 AIP gene AIP Expert Review Green;Literature Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pituitary adenoma 1, multiple types 102200 17360484 False 3 100;0;0 1.42 False ENSG00000110711 ENSG00000110711 HGNC:358 APC gene APC Expert list;Expert Review Green Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial Adenomatous Polyposis False 3 100;0;0 1.42 False ENSG00000134982 ENSG00000134982 HGNC:583 ATM gene ATM Expert list;Expert Review Green Adult solid tumours for rare disease Tumour syndromes Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Ataxia-telangiectasia, OMIM:208900 False 3 100;0;0 1.42 False ENSG00000149311 ENSG00000149311 HGNC:795 BAP1 gene BAP1 Expert list;Expert Review Green Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tumor predisposition syndrome 1, OMIM:614327;{Uveal melanoma, susceptibility to, 2}, OMIM:606661 False 3 100;0;0 1.42 False ENSG00000163930 ENSG00000163930 HGNC:950 BMPR1A gene BMPR1A Expert list;Expert Review Green Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hereditary Mixed Polyposis Syndrome False 3 100;0;0 1.42 False ENSG00000107779 ENSG00000107779 HGNC:1076 BRCA1 gene BRCA1 Expert list;Expert Review Green Adult solid tumours for rare disease Tumour syndromes Tumour syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Breast-ovarian cancer, familial, 1}, OMIM:604370;Fanconi anemia, complementation group S, OMIM:617883 False 3 100;0;0 1.42 False ENSG00000012048 ENSG00000012048 HGNC:1100 BRCA2 gene BRCA2 Expert list;Expert Review Green Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Breast-ovarian cancer, familial, 2}, OMIM:612555;{Breast cancer, male, susceptibility to}, OMIM:114480;{Prostate cancer}, OMIM:176807 False 3 100;0;0 1.42 False ENSG00000139618 ENSG00000139618 HGNC:1101 BRIP1 gene BRIP1 Expert list;Expert Review Green Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Breast cancer, early-onset, susceptibility to}, OMIM:114480 False 3 100;0;0 1.42 False ENSG00000136492 ENSG00000136492 HGNC:20473 CDC73 gene CDC73 Expert list;Expert Review Green Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hyperparathyroidism-Jaw Tumor Syndrome False 3 100;0;0 1.42 False ENSG00000134371 ENSG00000134371 HGNC:16783 CDH1 gene CDH1 Expert list;Expert Review Green Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate, OMIM:137215 False 3 100;0;0 1.42 False ENSG00000039068 ENSG00000039068 HGNC:1748 CDK4 gene CDK4 Expert list;Expert Review Green Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hereditary Melanoma False 3 100;0;0 1.42 False ENSG00000135446 ENSG00000135446 HGNC:1773 CDKN1B gene CDKN1B Expert list;Expert Review Green Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multiple endocrine neoplasia, type IV, OMIM:610755;Thyroid cancer;Pituitary adenoma False 3 100;0;0 1.42 False ENSG00000111276 ENSG00000111276 HGNC:1785 CDKN2A gene CDKN2A Expert list;Expert Review Green Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Melanoma, cutaneous malignant, 2}, OMIM:155601;{Melanoma and neural system tumor syndrome}, OMIM:155755;{Melanoma-pancreatic cancer syndrome}, OMIM:606719 False 3 100;0;0 1.42 False ENSG00000147889 ENSG00000147889 HGNC:1787 DICER1 gene DICER1 Expert list;Expert Review Green Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown DICER1 syndrome, Familial Multinodular Goiter False 3 100;0;0 1.42 False ENSG00000100697 ENSG00000100697 HGNC:17098 EPCAM gene EPCAM Expert list;Expert Review Green Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Colorectal cancer, hereditary nonpolyposis, type 8, OMIM:613244 False 3 100;0;0 1.42 False ENSG00000119888 ENSG00000119888 HGNC:11529 EXT1 gene EXT1 Expert Review Green;Other Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Chondrosarcoma 215300" PMID: 23770606;PMID: 10441575;PMID 29529714 False 3 100;0;0 1.42 True ENSG00000182197 ENSG00000182197 HGNC:3512 EXT2 gene EXT2 Expert Review Green;Other Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Exostoses, multiple, type 2 133701" PMID: 23770606;PMID: 27636706;PMID 29529714;PMID 7726168 False 3 100;0;0 1.42 True ENSG00000151348 ENSG00000151348 HGNC:3513 FH gene FH Expert list;Expert Review Green Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Leiomyomatosis and renal cell cancer, OMIM:150800 False 3 100;0;0 1.42 False ENSG00000091483 ENSG00000091483 HGNC:3700 FLCN gene FLCN Expert list;Expert Review Green Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown renal oncocytoma False 3 100;0;0 1.42 False ENSG00000154803 ENSG00000154803 HGNC:27310 KIT gene KIT Expert list;Expert Review Green Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Gastrointestinal stromal tumor, familial, OMIM:606764 False 3 100;0;0 1.42 False ENSG00000157404 ENSG00000157404 HGNC:6342 MAX gene MAX Expert list;Expert Review Green Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Pheochromocytoma, susceptibility to}, OMIM:171300 False 3 100;0;0 1.42 False ENSG00000125952 ENSG00000125952 HGNC:6913 MEN1 gene MEN1 Expert list;Expert Review Green Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Multiple Endocrine Neoplasia False 3 100;0;0 1.42 False ENSG00000133895 ENSG00000133895 HGNC:7010 MET gene MET Expert list;Expert Review Green Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Renal cell cancer, papillary carcinoma False 3 100;0;0 1.42 False ENSG00000105976 ENSG00000105976 HGNC:7029 MLH1 gene MLH1 Expert list;Expert Review Green Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lynch Syndrome;CMMRD False 3 100;0;0 1.42 False ENSG00000076242 ENSG00000076242 HGNC:7127 MSH2 gene MSH2 Expert list;Expert Review Green Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lynch Syndrome;CMMRD False 3 100;0;0 1.42 False ENSG00000095002 ENSG00000095002 HGNC:7325 MSH6 gene MSH6 Expert list;Expert Review Green Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lynch Syndrome;CMMRD False 3 100;0;0 1.42 False ENSG00000116062 ENSG00000116062 HGNC:7329 MUTYH gene MUTYH Expert list;Expert Review Green Adult solid tumours for rare disease Tumour syndromes Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Colorectal cancer False 3 100;0;0 1.42 False ENSG00000132781 ENSG00000132781 HGNC:7527 NF1 gene NF1 Expert list;Expert Review Green Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurofibromatosis False 3 100;0;0 1.42 False ENSG00000196712 ENSG00000196712 HGNC:7765 NF2 gene NF2 Expert list;Expert Review Green Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Acoustic neuroma False 3 100;0;0 1.42 False ENSG00000186575 ENSG00000186575 HGNC:7773 NTHL1 gene NTHL1 Expert list;Expert Review Green Adult solid tumours for rare disease Tumour syndromes Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Colorectal cancer False 3 100;0;0 1.42 False ENSG00000065057 ENSG00000065057 HGNC:8028 PALB2 gene PALB2 Expert list;Expert Review Green Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown breast, pancreas False 3 100;0;0 1.42 False ENSG00000083093 ENSG00000083093 HGNC:26144 PMS2 gene PMS2 Expert list;Expert Review Green Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lynch Syndrome;CMMRD False 3 100;0;0 1.42 False ENSG00000122512 ENSG00000122512 HGNC:9122 POLD1 gene POLD1 Expert list;Expert Review Green Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Colorectal cancer; Endometrial cancer False 3 100;0;0 1.42 False ENSG00000062822 ENSG00000062822 HGNC:9175 POLE gene POLE Expert list;Expert Review Green Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Colorectal cancer False 3 100;0;0 1.42 False ENSG00000177084 ENSG00000177084 HGNC:9177 PTCH1 gene PTCH1 Expert list;Expert Review Green Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Basal cell nevus syndrome 1, OMIM:109400;Gorlin syndrome False 3 100;0;0 1.42 False ENSG00000185920 ENSG00000185920 HGNC:9585 PTEN gene PTEN Expert list;Expert Review Green Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cowden syndrome False 3 100;0;0 1.42 False ENSG00000171862 ENSG00000171862 HGNC:9588 RAD51C gene RAD51C Expert list;Expert Review Green Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ovarian cancer False 3 100;0;0 1.42 False ENSG00000108384 ENSG00000108384 HGNC:9820 RAD51D gene RAD51D Expert list;Expert Review Green Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ovarian cancer False 3 100;0;0 1.42 False ENSG00000185379 ENSG00000185379 HGNC:9823 RB1 gene RB1 Expert list;Expert Review Green Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Retinoblastoma False 3 100;0;0 1.42 False ENSG00000139687 ENSG00000139687 HGNC:9884 RET gene RET Expert list;Expert Review Green Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Multiple Endocrine Neoplasia False 3 100;0;0 1.42 False ENSG00000165731 ENSG00000165731 HGNC:9967 SDHA gene SDHA Expert list;Expert Review Green Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown gastrointestinal stromal tumors False 3 100;0;0 1.42 False ENSG00000073578 ENSG00000073578 HGNC:10680 SDHAF2 gene SDHAF2 Expert list;Expert Review Green Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial Paraganglioma and Pheochromocytoma False 3 100;0;0 1.42 False ENSG00000167985 ENSG00000167985 HGNC:26034 SDHB gene SDHB Expert list;Expert Review Green Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Paragangliomas 4, OMIM:115310;Pheochromocytoma, OMIM:171300;Paraganglioma and gastric stromal sarcoma, OMIM:606864;Gastrointestinal stromal tumor, OMIM:606764 False 3 100;0;0 1.42 False ENSG00000117118 ENSG00000117118 HGNC:10681 SDHC gene SDHC Expert list;Expert Review Green Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial Paraganglioma and Pheochromocytoma False 3 100;0;0 1.42 False ENSG00000143252 ENSG00000143252 HGNC:10682 SDHD gene SDHD Expert list;Expert Review Green Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial Paraganglioma and Pheochromocytoma False 3 100;0;0 1.42 False ENSG00000204370 ENSG00000204370 HGNC:10683 SMAD4 gene SMAD4 Expert list;Expert Review Green Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hereditary Hemorrhagic Telangiectasia, Juvenile Polyposis False 3 100;0;0 1.42 False ENSG00000141646 ENSG00000141646 HGNC:6770 SMARCA4 gene SMARCA4 Expert list;Expert Review Green Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown predisposition to small cell ca ;Ovary with hypercalcemia False 3 100;0;0 1.42 False ENSG00000127616 ENSG00000127616 HGNC:11100 SMARCB1 gene SMARCB1 Expert list;Expert Review Green Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Atypical rhabdoid tumor predisposition False 3 100;0;0 1.42 False ENSG00000099956 ENSG00000099956 HGNC:11103 STK11 gene STK11 Expert list;Expert Review Green Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Peutz Jeghers syndrome False 3 100;0;0 1.42 False ENSG00000118046 ENSG00000118046 HGNC:11389 SUFU gene SUFU Expert list;Expert Review Green Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Basal cell nevus syndrome, OMIM:109400;{Medulloblastoma}, OMIM:155255;{Meningioma, familial, susceptibility to}, OMIM:607174 False 3 100;0;0 1.42 False ENSG00000107882 ENSG00000107882 HGNC:16466 TMEM127 gene TMEM127 Expert list;Expert Review Green Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial Pheochromocytoma, adrenal False 3 100;0;0 1.42 False ENSG00000135956 ENSG00000135956 HGNC:26038 TP53 gene TP53 Expert list;Expert Review Green Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Li Fraumeni Syndrome False 3 100;0;0 1.42 False ENSG00000141510 ENSG00000141510 HGNC:11998 TSC1 gene TSC1 Expert list;Expert Review Green Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tuberous sclerosis type 1 False 3 100;0;0 1.42 False ENSG00000165699 ENSG00000165699 HGNC:12362 TSC2 gene TSC2 Expert list;Expert Review Green Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tuberous sclerosis type 2 False 3 100;0;0 1.42 False ENSG00000103197 ENSG00000103197 HGNC:12363 VHL gene VHL Expert list;Expert Review Green Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial Paraganglioma and Pheochromocytoma False 3 100;0;0 1.42 False ENSG00000134086 ENSG00000134086 HGNC:12687 WT1 gene WT1 Expert list;Expert Review Green Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial Wilms tumor False 3 100;0;0 1.42 False ENSG00000184937 ENSG00000184937 HGNC:12796 CHEK2 gene CHEK2 Expert list;Expert Review Amber Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Breast cancer False 2 50;50;0 1.42 False ENSG00000183765 ENSG00000183765 HGNC:16627 PDGFRA gene PDGFRA Literature Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial, OMIM:175510 False 1 0;100;0 1.42 False ENSG00000134853 ENSG00000134853 HGNC:8803 ISCA-37401-Loss region Expert Review Green;ClinGen Adult solid tumours for rare disease Tumour syndromes Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome;194072 False 3 0;0;0 1.42 False 11 31781961 32489442 3 60 cnv_loss 11p13 (WAGR syndrome) region Loss