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 ATM gene ATM Expert list;Expert Review;Expert Review Green Breast Cancer Cancer Predisposition MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Breast cancer, MONDO:0007254;ATM-related cancer predisposition, MONDO:0700270;Breast cancer, susceptibility to, MIM#114480 Breast carcinoma;HP:0003002 False 3 100;0;0 1.19 True ENSG00000149311 ENSG00000149311 HGNC:795 BARD1 gene BARD1 Expert list;Expert Review;Expert Review Green Breast Cancer Cancer Predisposition MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Breast cancer, MONDO:0007254;BARD1-related cancer predisposition, MONDO:0700267;Breast cancer, susceptibility to, MIM#114480 Breast carcinoma;HP:0003002 False 3 100;0;0 1.19 True ENSG00000138376 ENSG00000138376 HGNC:952 BRCA1 gene BRCA1 Expert list;Expert Review;Expert Review Green Breast Cancer Cancer Predisposition MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Breast cancer, MONDO:0007254;BRCA1-related cancer predisposition, MONDO:0700268;Breast-ovarian cancer, familial, 1, MIM#604370 Breast carcinoma;HP:0003002 False 3 100;0;0 1.19 True ENSG00000012048 ENSG00000012048 HGNC:1100 BRCA2 gene BRCA2 Expert list;Expert Review;Expert Review Green Breast Cancer Cancer Predisposition MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Breast cancer, MONDO:0007254;BRCA2-related cancer predisposition, MONDO:0700269;Breast-ovarian cancer, familial, 2, MIM#612555 Breast carcinoma;HP:0003002 False 3 100;0;0 1.19 True ENSG00000139618 ENSG00000139618 HGNC:1101 CDH1 gene CDH1 Expert list;Expert Review;Expert Review Green Breast Cancer Cancer Predisposition MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Breast cancer, MONDO:0007254;CDH1-related diffuse gastric and lobular breast cancer syndrome, MONDO:0100488;Diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate, MIM#137215 Breast carcinoma;HP:0003002 False 3 100;0;0 1.19 True ENSG00000039068 ENSG00000039068 HGNC:1748 CHEK2 gene CHEK2 Expert list;Expert Review;Expert Review Green;Literature Breast Cancer Cancer Predisposition MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Breast cancer, MONDO:0007254;CHEK2-related cancer predisposition, MONDO:0700271;Breast/prostate cancer, susceptibility to, MIM#609265 Breast carcinoma;HP:0003002 PMID: 33322746, 36529447 False 3 100;0;0 1.19 True ENSG00000183765 ENSG00000183765 HGNC:16627 NF1 gene NF1 Expert list;Expert Review;Expert Review Green Breast Cancer Cancer Predisposition MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Breast cancer, MONDO:0007254;Neurofibromatosis type 1, MONDO:0018975;Neurofibromatosis, type 1, MIM#162200 Breast carcinoma;HP:0003002 False 3 100;0;0 1.19 True ENSG00000196712 ENSG00000196712 HGNC:7765 PALB2 gene PALB2 Expert list;Expert Review;Expert Review Green Breast Cancer Cancer Predisposition MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Breast cancer, MONDO:0007254;PALB2-related cancer predisposition, MONDO:0700272;Breast-ovarian cancer, familial, susceptibility to, 5, MIM#620442;Pancreatic cancer, susceptibility to, 3, MIM#613348 Breast carcinoma;HP:0003002 False 3 100;0;0 1.19 True ENSG00000083093 ENSG00000083093 HGNC:26144 PTEN gene PTEN Expert list;Expert Review;Expert Review Green Breast Cancer Cancer Predisposition MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Breast cancer, MONDO:0007254;PTEN hamartoma tumor syndrome, MONDO:0017623;PTEN hamartoma tumour syndromes, MIM#158350 Breast carcinoma;HP:0003002 False 3 100;0;0 1.19 True ENSG00000171862 ENSG00000171862 HGNC:9588 RAD51C gene RAD51C Expert list;Expert Review;Expert Review Green Breast Cancer Cancer Predisposition MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Breast cancer, MONDO:0007254;RAD51C-related cancer predisposition, MONDO:0700273;Breast-ovarian cancer, familial, susceptibility to, 3, MONDO:0013253;Breast-ovarian cancer, familial, susceptibility to, 3, MIM#613399 Breast carcinoma;HP:0003002 False 3 100;0;0 1.19 True ENSG00000108384 ENSG00000108384 HGNC:9820 RAD51D gene RAD51D Expert list;Expert Review;Expert Review Green Breast Cancer Cancer Predisposition MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Breast cancer, MONDO:0007254;RAD51D-related cancer predisposition, MONDO:0700274;Breast-ovarian cancer, familial, susceptibility to, 4, MONDO:0013669;Breast-ovarian cancer, familial, susceptibility to, 4, MIM#614291 Breast carcinoma;HP:0003002 False 3 100;0;0 1.19 True ENSG00000185379 ENSG00000185379 HGNC:9823 STK11 gene STK11 Expert list;Expert Review;Expert Review Green Breast Cancer Cancer Predisposition MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Breast cancer, MONDO:0007254;Peutz-Jeghers syndrome, MONDO:0008280;Peutz-Jeghers syndrome, MIM#175200 Breast carcinoma;HP:0003002 False 3 100;0;0 1.19 True ENSG00000118046 ENSG00000118046 HGNC:11389 TP53 gene TP53 Expert list;Expert Review;Expert Review Green Breast Cancer Cancer Predisposition MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Breast cancer, MONDO:0007254;Li-Fraumeni syndrome, MONDO:0018875;Li-Fraumeni syndrome, MIM#151623 Breast carcinoma;HP:0003002 False 3 100;0;0 1.19 True ENSG00000141510 ENSG00000141510 HGNC:11998 BRIP1 gene BRIP1 ClinGen;Expert Review Red Breast Cancer Cancer Predisposition MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary breast carcinoma MONDO:0016419 Breast carcinoma;HP:0003002 False 1 0;0;100 1.19 True ENSG00000136492 ENSG00000136492 HGNC:20473 EPCAM gene EPCAM ClinGen;Expert Review Red Breast Cancer Cancer Predisposition MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary breast carcinoma, MONDO:0016419 Breast carcinoma;HP:0003002 False 1 0;0;100 1.19 True ENSG00000119888 ENSG00000119888 HGNC:11529 GEN1 gene GEN1 ClinGen;Expert Review Red Breast Cancer Cancer Predisposition MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary breast carcinoma, MONDO:0016419 Breast carcinoma;HP:0003002 False 1 0;0;100 1.19 True ENSG00000178295 ENSG00000178295 HGNC:26881 MLH1 gene MLH1 ClinGen;Expert Review Red Breast Cancer Cancer Predisposition MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary breast carcinoma, MONDO:0016419 Breast carcinoma;HP:0003002 False 1 0;0;100 1.19 True ENSG00000076242 ENSG00000076242 HGNC:7127 MRE11 gene MRE11 ClinGen;Expert Review Red Breast Cancer Cancer Predisposition MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary breast carcinoma, MONDO:0016419 Breast carcinoma;HP:0003002 False 1 0;0;100 1.19 True ENSG00000020922 ENSG00000020922 HGNC:7230 MSH2 gene MSH2 ClinGen;Expert Review Red Breast Cancer Cancer Predisposition MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary breast carcinoma, MONDO:0016419 Breast carcinoma;HP:0003002 False 1 0;0;100 1.19 True ENSG00000095002 ENSG00000095002 HGNC:7325 MSH6 gene MSH6 ClinGen;Expert Review Red Breast Cancer Cancer Predisposition MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary breast carcinoma, MONDO:0016419 Breast carcinoma;HP:0003002 False 1 0;0;100 1.19 True ENSG00000116062 ENSG00000116062 HGNC:7329 MUTYH gene MUTYH ClinGen;Expert Review Red Breast Cancer Cancer Predisposition BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hereditary breast carcinoma, MONDO:0016419 Breast carcinoma;HP:0003002 False 1 0;0;100 1.19 True ENSG00000132781 ENSG00000132781 HGNC:7527 NBN gene NBN ClinGen;Expert Review Red Breast Cancer Cancer Predisposition MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary breast carcinoma, MONDO:0016419 Breast carcinoma;HP:0003002 False 1 0;0;100 1.19 True ENSG00000104320 ENSG00000104320 HGNC:7652 PIK3CA gene PIK3CA ClinGen;Expert Review Red Breast Cancer Cancer Predisposition MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary breast carcinoma, MONDO:0016419 Breast carcinoma;HP:0003002 False 1 0;0;100 1.19 True ENSG00000121879 ENSG00000121879 HGNC:8975 PMS2 gene PMS2 ClinGen;Expert Review Red Breast Cancer Cancer Predisposition MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary breast carcinoma, MONDO:0016419 Breast carcinoma;HP:0003002 False 1 0;0;100 1.19 True ENSG00000122512 ENSG00000122512 HGNC:9122 RAD50 gene RAD50 ClinGen;Expert Review Red Breast Cancer Cancer Predisposition MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary breast carcinoma, MONDO:0016419 Breast carcinoma;HP:0003002 False 1 0;0;100 1.19 True ENSG00000113522 ENSG00000113522 HGNC:9816 RECQL gene RECQL ClinGen;Expert Review Red Breast Cancer Cancer Predisposition MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary breast carcinoma, MONDO:0016419 Breast carcinoma;HP:0003002 False 1 0;0;100 1.19 True ENSG00000004700 ENSG00000004700 HGNC:9948 RINT1 gene RINT1 ClinGen;Expert Review Red Breast Cancer Cancer Predisposition MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary breast carcinoma, MONDO:0016419 Breast carcinoma;HP:0003002 False 1 0;0;100 1.19 True ENSG00000135249 ENSG00000135249 HGNC:21876 SLX4 gene SLX4 ClinGen;Expert Review Red Breast Cancer Cancer Predisposition MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary breast carcinoma, MONDO:0016419 Breast carcinoma;HP:0003002 False 1 0;0;100 1.19 True ENSG00000188827 ENSG00000188827 HGNC:23845 XRCC2 gene XRCC2 ClinGen;Expert Review Red Breast Cancer Cancer Predisposition MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary breast carcinoma, MONDO:0016419 Breast carcinoma;HP:0003002 False 1 0;0;100 1.19 True ENSG00000196584 ENSG00000196584 HGNC:12829 ISCA-37431-Loss region Expert list;Expert Review Green;Expert Review Green;Expert list Breast Cancer Cancer Predisposition MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Chromosome 17q11.2 deletion syndrome, MIM#613675;NF1 deletion syndrome Breast carcinoma;HP:0003002 12660952;14729829 False 3 100;0;0 1.19 False 17 30835804 31891648 3 80 cnv_loss Chromosome 17q11.2 deletion syndrome, NF1 deletion syndrome