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 BRAF gene BRAF Expert Review Red;Literature Inherited non-medullary thyroid cancer Breast and endocrine Tumour syndromes Unknown Familial Non-medullary Thyroid Cancer 26530882 False 1 0;0;100 1.8 False ENSG00000157764 ENSG00000157764 HGNC:1097 BRCA1 gene BRCA1 Literature Inherited non-medullary thyroid cancer Breast and endocrine Tumour syndromes Unknown Non-medullary thyroid cancer 26530882 False 1 0;0;100 1.8 False ENSG00000012048 ENSG00000012048 HGNC:1100 BRCA2 gene BRCA2 Literature Inherited non-medullary thyroid cancer Breast and endocrine Tumour syndromes Unknown non-medullary thyroid cancer 26530882 False 1 0;0;100 1.8 False ENSG00000139618 ENSG00000139618 HGNC:1101 DIRAS3 gene DIRAS3 Expert Review Red;Literature Inherited non-medullary thyroid cancer Breast and endocrine Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) follicular thyroid carcinoma 15546898 False 1 0;0;100 1.8 False ENSG00000162595 ENSG00000162595 HGNC:687 GNAS gene GNAS Expert Review Red;Literature Inherited non-medullary thyroid cancer Breast and endocrine Tumour syndromes Unknown Inherited non-medullary thyroid cancer 26530882;7751320 False 1 0;0;100 1.8 False ENSG00000087460 ENSG00000087460 HGNC:4392 HABP2 gene HABP2 Expert Review Red;Literature Inherited non-medullary thyroid cancer Breast and endocrine Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {?Thyroid cancer, nonmedullary, 5} 616535 26222560;28402931;28222214 False 1 0;0;100 1.8 False ENSG00000148702 ENSG00000148702 HGNC:4798 KISS1R gene KISS1R Expert Review Red;Literature Inherited non-medullary thyroid cancer Breast and endocrine Tumour syndromes Unknown Somatic follicular and papillary thyroid carcinomas 11994395;25667462 False 1 0;0;100 1.8 False ENSG00000116014 ENSG00000116014 HGNC:4510 MEN1 gene MEN1 Literature Inherited non-medullary thyroid cancer Breast and endocrine Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial Non-medullary Thyroid Cancer 26530882 False 1 0;0;100 1.8 False ENSG00000133895 ENSG00000133895 HGNC:7010 MINPP1 gene MINPP1 Radboud University Medical Center, Nijmegen Inherited non-medullary thyroid cancer Breast and endocrine Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Thyroid carcinoma, follicular 188470 11297621 False 1 0;0;100 1.8 False ENSG00000107789 ENSG00000107789 HGNC:7102 MSH6 gene MSH6 Expert Review Red;Literature Inherited non-medullary thyroid cancer Breast and endocrine Tumour syndromes Unknown Familial Non-medullary Thyroid Cancer 26530882 False 1 100;0;0 1.8 False ENSG00000116062 ENSG00000116062 HGNC:7329 NDUFA13 gene NDUFA13 Expert Review Red;Literature Inherited non-medullary thyroid cancer Breast and endocrine Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown papillary thyroid carcinoma (predominantly Hurthle cells) 607464 15841082 False 1 0;0;100 1.8 False ENSG00000186010 ENSG00000186010 HGNC:17194 NKX2-1 gene NKX2-1 Expert Review Red;Radboud University Medical Center, Nijmegen Inherited non-medullary thyroid cancer Breast and endocrine Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Thyroid cancer, monmedullary, 1} 188550 19176457 False 1 0;0;100 1.8 False ENSG00000136352 ENSG00000136352 HGNC:11825 PIK3CA gene PIK3CA Expert Review Red;Literature;Radboud University Medical Center, Nijmegen Inherited non-medullary thyroid cancer Breast and endocrine Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cowden syndrome 5 615108 23246288;16288007 False 1 0;0;100 1.8 False ENSG00000121879 ENSG00000121879 HGNC:8975 PTCSC1 gene PTCSC1 Expert Review Red;Literature Inherited non-medullary thyroid cancer Breast and endocrine Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown papillary thyroid, susceptibility 19147577 False 1 0;0;100 1.8 False - - HGNC:37127 PTCSC3 gene PTCSC3 Literature Inherited non-medullary thyroid cancer Breast and endocrine Tumour syndromes Unknown papillary thyroid carcinoma 22586128 False 1 0;0;100 1.8 False ENSG00000259104 ENSG00000259104 HGNC:43959 SDHB gene SDHB Expert Review Red;Literature Inherited non-medullary thyroid cancer Breast and endocrine Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Cowden syndrome 2 612359" 18678321 False 1 0;0;100 1.8 False ENSG00000117118 ENSG00000117118 HGNC:10681 SDHD gene SDHD Literature Inherited non-medullary thyroid cancer Breast and endocrine Tumour syndromes Unknown "Cowden syndrome 3 615106" 18678321 False 1 0;0;100 1.8 False ENSG00000204370 ENSG00000204370 HGNC:10683 SEC23B gene SEC23B Expert Review Red;Radboud University Medical Center, Nijmegen Inherited non-medullary thyroid cancer Breast and endocrine Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cowden syndrome 7, OMIM:616858 26522472 False 1 0;0;100 1.8 False ENSG00000101310 ENSG00000101310 HGNC:10702 SRGAP1 gene SRGAP1 Literature Inherited non-medullary thyroid cancer Breast and endocrine Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Thyroid carcinoma, follicular 188470 23539728 False 1 0;0;100 1.8 False ENSG00000196935 ENSG00000196935 HGNC:17382 SRRM2 gene SRRM2 Expert Review Red;Literature Inherited non-medullary thyroid cancer Breast and endocrine Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted predisposition papillary thyroid carcinoma 26135620 False 1 0;0;100 1.8 False ENSG00000167978 ENSG00000167978 HGNC:16639 TG gene TG Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Inherited non-medullary thyroid cancer Breast and endocrine Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Thyroid dyshormonogenesis 3 274700 16403815;21476894;28345837 False 1 0;0;100 1.8 False ENSG00000042832 ENSG00000042832 HGNC:11764 VTRNA2-1 gene VTRNA2-1 Literature Inherited non-medullary thyroid cancer Breast and endocrine Tumour syndromes Unknown familial papillary thyroid cancers 21998631 False 1 0;0;100 1.8 False ENSG00000270123 ENSG00000270123 HGNC:37054