MCID: BRS047
MIFTS: 90

Breast Cancer malady

Genetic diseases, Rare diseases, Cancer diseases, Reproductive diseases categories

Summaries for Breast Cancer

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MedlinePlus:32 Breast cancer affects one in eight women during their lives. breast cancer kills more women in the united states than any cancer except lung cancer. no one knows why some women get breast cancer, but there are a number of risk factors. risks that you cannot change include age - the chance of getting breast cancer rises as a woman gets older genes - there are two genes, brca1 and brca2, that greatly increase the risk. women who have family members with breast or ovarian cancer may wish to be tested. personal factors - beginning periods before age 12 or going through menopause after age 55 other risks include being overweight, using hormone replacement therapy (also called menopausal hormone therapy), taking birth control pills, drinking alcohol, not having children or having your first child after age 35 or having dense breasts. symptoms of breast cancer may include a lump in the breast, a change in size or shape of the breast or discharge from a nipple. breast self-exam and mammography can help find breast cancer early when it is most treatable. treatment may consist of radiation, lumpectomy, mastectomy, chemotherapy and hormone therapy. men can have breast cancer, too, but the number of cases is small. nih: national cancer institute

MalaCards based summary: Breast Cancer, also known as breast carcinoma, is related to lung cancer and familial breast cancer, and has symptoms including autosomal dominant inheritance, heterogeneous and breast carcinoma. An important gene associated with Breast Cancer is BRCA2 (breast cancer 2, early onset). The drugs methotrexate and methotrexate sodium and the compounds biochanin a and diethylstilbestrol have been mentioned in the context of this disorder. Affiliated tissues include breast, skeletal muscle and bone.

Disease Ontology:9 A thoracic cancer that originates in the mammary gland.

Genetics Home Reference:21 Breast cancer is a disease in which certain cells in the breast become abnormal and multiply without control or order to form a tumor. The most common form of breast cancer begins in cells lining the ducts that carry milk to the nipple (ductal cancer). Other forms of breast cancer begin in the glands that produce milk (lobular cancer) or in other parts of the breast.

OMIM:45 Breast cancer (referring to mammary carcinoma, not mammary sarcoma) is histopathologically and almost certainly... (114480) more...

CDC:3 Breast cancer is the most common cancer among American women. Getting mammograms regularly can lower the risk of dying from breast cancer. If you are 50 to 74 years old, be sure to have a screening mammogram every two years. If you are 40 to 49 years old, talk to your doctor about when to start and how often to get a screening mammogram.

Novus Biologicals:44 Breast cancer is a malignant tumor that originates from breast tissue cells. Although most breast cancers initiate in the cells that line the breast ducts, some begin in the breast lobules and other tissues. As with all cancers, there is a genetic and environmental component of developing breast cancer. Women with defects in the BRCA1 and BRCA2 genes have up to an 80% chance of getting breast cancer. Research has also found that defects in the ErbB-2 gene lead to increased levels of the protein cyclin D1. Cyclin D1 then activates CDK4, which causes proliferation of cellular division. Blocking CDK4 activity may lead to effective breast cancer treatments.

Wikipedia:63 Breast cancer is cancer that develops from breast tissue. Signs of breast cancer may include a lump in... more...

Aliases & Classifications for Breast Cancer

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Breast Cancer, Aliases & Descriptions:

Name: Breast Cancer 45 9 10 63 21 11 43 32 3
Breast Carcinoma 9 21 11 43 60
Malignant Neoplasm of Breast 9 63 21 60
Male Breast Cancer 9 63 41 32
Cancer of Breast 63 21 22
Mammary Cancer 9 63 21
Malignant Neoplasm of Male Breast 9 60
Invasive Ductal Breast Carcinoma 43 60
Breast Cancer, Invasive Ductal 45 30
Breast Cancer, Early-Onset 45 22
Malignant Tumor of Breast 63 21
Breast Cancer, Lobular 45 30
Breast Male Carcinoma 43 22
Breast Cancer, Male 45 41
Mammary Tumor 9 43
Primary Malignant Neoplasm of Breast 60
Breast Cancer, Protection Against 45
 
Malignant Tumor of the Breast 9
Breast Cancer Susceptibility 45
Breast Lobular Carcinoma 9
Animal Mammary Neoplasms 60
Carcinoma of Male Breast 60
Carcinoma of Breast Nos 9
Neoplasm of Male Breast 9
Breast Cancer, Familial 21
Breast Cancer, Somatic 45
Breast Neoplasms, Male 60
Male Breast Carcinoma 41
Primary Breast Cancer 9
Breast Cancer in Men 41
Carcinoma of Breast 9
Mammary Carcinoma 9
Mammary Neoplasms 60
Breast Tumor 9


Classifications:



Related Diseases for Breast Cancer

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Diseases in the Breast Cancer family:

Inflammatory Breast Carcinoma Breast Benign Neoplasm
Breast Carcinoma in Situ Familial Breast Cancer
Chek2-Related Susceptibility to Breast Cancer Bard1-Related Susceptibility to Breast Cancer
Brip1-Related Breast Cancer Hereditary Breast Cancer

Diseases related to Breast Cancer via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 700)
idRelated DiseaseScoreTop Affiliating Genes
1lung cancer32.0AMPH, TFF1, ABCG2
2familial breast cancer11.3
3hereditary breast cancer11.2
4estrogen-receptor positive breast cancer11.2
5sporadic breast cancer11.1
6endotheliitis11.1
7bilateral breast cancer11.1
8estrogen-receptor negative breast cancer11.0
9prostatitis11.0
10lymphedema11.0
11insulin-like growth factor i11.0
12hypoxia11.0
13breast disease10.9
14ductal carcinoma in situ10.9
15leukemia10.8
16obesity10.8
17amenorrhea10.7
18melanoma10.7
19retinoblastoma10.7
20prostate cancer10.7
21thyroiditis10.7
22ataxia10.7
23colorectal cancer10.6
24ataxia-telangiectasia10.6
25breast reconstruction10.6
26neutropenia10.6
27sarcoma10.6
28blindness10.6
29breast cyst10.6
30estrogen resistance10.6
31wilms tumor10.6
32progesterone-receptor positive breast cancer10.6
33pancreatitis10.6
34osteoporosis10.5
35neuropathy10.5
36myeloid leukemia10.5
37cervicitis10.5
38triple-receptor negative breast cancer10.5
39inflammatory breast carcinoma10.5
40hypercalcemia10.5
41adenocarcinoma10.5
42synchronous bilateral breast carcinoma10.5
43hepatitis10.5
44neuronitis10.5
45gynecomastia10.5
46resistance to tamoxifene10.5
47neurofibromatosis10.4
48pneumonia10.4
49endometrial cancer10.4
50li-fraumeni syndrome10.4

Graphical network of the top 20 diseases related to Breast Cancer:



Diseases related to breast cancer

Symptoms for Breast Cancer

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Symptoms by clinical synopsis from OMIM:

114480

Clinical features from OMIM:

114480

HPO human phenotypes related to Breast Cancer:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 heterogeneous HP:0001425
3 breast carcinoma HP:0003002

Drugs & Therapeutics for Breast Cancer

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Genetic Tests for Breast Cancer

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Genetic tests related to Breast Cancer:

id Genetic test Affiliating Genes
1 Breast Cancer, Susceptibility to22
2 Breast Cancer, Early-Onset22
3 Neoplasm of Breast22
4 Carcinoma of Male Breast22

Anatomical Context for Breast Cancer

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MalaCards organs/tissues related to Breast Cancer:

31
Breast, Skeletal muscle, Bone, Lymph node, Endothelial, Lung, Testes, Prostate, Bone marrow, Brain, T cells, Skin, Liver, Thyroid, Myeloid, Colon, Placenta, Testis, Neutrophil, Monocytes, Heart, Pituitary, Ovary, Smooth muscle, B cells, Eye, Spleen, Uterus, Cervix, Kidney, Salivary gland, Adipocyte, Nk cells, Pineal, Pancreas, Small intestine, Whole blood, Thymus, Cortex, Dentritic cells, Hypothalamus, Trachea, Spinal cord, B lymphoblasts

Animal Models for Breast Cancer or affiliated genes

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Publications for Breast Cancer

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Articles related to Breast Cancer:

(show top 50)    (show all 23076)
idTitleAuthorsYear
1
Modulation of Cyclins, p53 and Mitogen-Activated Protein Kinases Signaling in Breast Cancer Cell Lines by 4-(3,4,5-Trimethoxyphenoxy)benzoic Acid. (24406729)
2014
2
Prognostic Significance of Ki-67 in Chemotherapy-naive Breast Cancer Patients with 10-year Follow-up. (24403472)
2014
3
Utility of 3-dimensional echocardiography, global longitudinal strain, and exercise stress echocardiography to detect cardiac dysfunction in breast cancer patients treated with doxorubicin-containing adjuvant therapy. (24390149)
2014
4
The difference in prognostic factors between early recurrence and late recurrence in estrogen receptor-positive breast cancer: nodal stage differently impacts early and late recurrence. (23717438)
2013
5
Lysyl oxidase plays a pivotal role in promoting metastasis of breast cancer cells. (24422044)
2013
6
Validity of the proliferation markers Ki67, TOP2A, and RacGAP1 in molecular subgroups of breast cancer. (23135572)
2013
7
Brk/PTK6 cooperates with HER2 and Src in regulating breast cancer cell survival and epithelial-to-mesenchymal transition. (23291984)
2013
8
CA 15-3 is a predictive and prognostic biomarker in patients with metastasized breast cancer undergoing Selective Internal Radiation Therapy. (23260003)
2013
9
DNA methylation pattern of the SLC25A43 gene in breast cancer. (22430806)
2012
10
17I^-Estradiol enhances breast cancer cell motility and invasion via extra-nuclear activation of actin-binding protein ezrin. (21818323)
2011
11
Germline mutations in PALB2 in African-American breast cancer cases. (21113654)
2011
12
Capsaicin causes cell-cycle arrest and apoptosis in ER-positive and -negative breast cancer cells by modulating the EGFR/HER-2 pathway. (19855437)
2010
13
GPX1 Pro198Leu polymorphism and breast cancer risk: a meta-analysis. (20306294)
2010
14
Breast cancer-specific mutations in CK1epsilon inhibit Wnt/beta-catenin and activate the Wnt/Rac1/JNK and NFAT pathways to decrease cell adhesion and promote cell migration. (20507565)
2010
15
Evaluation of variants in the CHEK2, BRIP1 and PALB2 genes in an Irish breast cancer cohort. (19763819)
2010
16
Common and discriminative clinicopathological features between breast cancers with pathological complete response or progressive disease in response to neoadjuvant chemotherapy. (19685074)
2010
17
Breast cancer metastasis suppressor 1 (BRMS1) suppresses metastasis and correlates with improved patient survival in non-small cell lung cancer. (19111386)
2009
18
Standard psychological consultations and follow up for women at increased risk of hereditary breast cancer considering prophylactic mastectomy. (19338651)
2009
19
MicroRNA-221/222 negatively regulates estrogen receptor alpha and is associated with tamoxifen resistance in breast cancer. (18790736)
2008
20
Clinicopathologic and prognostic characteristics of triple-negative breast cancer. (19145094)
2008
21
Elevated levels of chemokine receptor CXCR4 in HER-2 negative breast cancer specimens predict recurrence. (17574038)
2007
22
Genetic screening reveals an essential role of p27kip1 in restriction of breast cancer progression. (17804714)
2007
23
MTA family of transcriptional metaregulators in mammary gland morphogenesis and breast cancer. (17549610)
2007
24
A common 8q24 variant in prostate and breast cancer from a large nested case-control study. (17409400)
2007
25
Tumor HGF lacks prognostic significance in Mexican breast cancer patients. (17167976)
2006
26
Skeletal health in postmenopausal survivors of early breast cancer. (15645435)
2005
27
Detailed chromosomal characterization of the breast cancer cell line MCF7 with special focus on the expression of the serine-threonine kinase 15. (15944763)
2005
28
Hypoxia-inducible factor-1alpha is associated with angiogenesis, and expression of bFGF, PDGF-BB, and EGFR in invasive breast cancer. (15656883)
2005
29
No association between BRCA2 N372H and breast cancer risk. (15894703)
2005
30
Increased level of phosphorylated akt measured by chemiluminescence-linked immunosorbent assay is a predictor of poor prognosis in primary breast cancer overexpressing ErbB-2. (15987444)
2005
31
The sesquiterpene lactone parthenolide in combination with docetaxel reduces metastasis and improves survival in a xenograft model of breast cancer. (15956258)
2005
32
The insulin-like growth factor system in advanced breast cancer. (14687598)
2004
33
Extracellular calcium downregulates estrogen receptor alpha and increases its transcriptional activity through calcium-sensing receptor in breast cancer cells. (15268900)
2004
34
Relationships between plasma insulin-like growth factor-I and insulin-like growth factor binding protein-3 and second breast cancer risk in a prevention trial of fenretinide. (14581342)
2003
35
Prediction of pathogenic mutations in patients with early-onset breast cancer by family history. (12672316)
2003
36
Autocrine growth factor revisited: PC-cell-derived growth factor (progranulin), a critical player in breast cancer tumorigenesis. (12914763)
2003
37
Cyproterone, norethindrone, medroxyprogesterone and levonorgestrel are less potent local human growth hormone and insulin-like growth factor I secretion stimulators than progesterone in human breast cancer explants expressing the estrogen receptor. (12396561)
2002
38
The menopause, hormone replacement therapy and breast cancer. (12650709)
2002
39
Loss of fragile histidine triad expression and metastasis in breast cancer]. (12452072)
2002
40
Cytotoxic efficacy of bendamustine in human leukemia and breast cancer cell lines. (12029443)
2002
41
Can expression of apoptosis genes, bcl-2 and bax, predict survival and responsiveness to chemotherapy in node-negative breast cancer patients? (11469882)
2001
42
Prognostic value of cytosolic p53 protein in breast cancer. (11553865)
2001
43
Expression of a novel factor, com1, in early tumor progression of breast cancer. (10815897)
2000
44
HER2 regulatory control of angiopoietin-2 in breast cancer. (10922985)
2000
45
Prospective studies of p53 and c-erbB-2 expression in relation to clinicopathological parameters of human ductal breast cancer in the second stage of clinical advancement. (9568187)
1998
46
Protein tyrosine kinase activity in 350 T1/T2, N0/N1 breast cancer. Preliminary results. (8877013)
1996
47
GnRH analogs in benign breast disease and breast cancer chemoprevention. A challenge for the year 2000. (8005138)
1994
48
Breast cancer is associated with loss of the c-kit oncogene product. (1385336)
1992
49
Factors influencing mutation at the hprt locus in T-lymphocytes: women treated for breast cancer. (1742733)
1991
50
Endocrine effects of combined somatostatin analog and bromocriptine therapy in women with advanced breast cancer. (2575406)
1989

Variations for Breast Cancer

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UniProtKB/Swiss-Prot genetic disease variations for Breast Cancer:

62 (show all 74)
id Symbol AA change Variation ID SNP ID
1AKT1p.Glu17LysVAR_055422rs121434592
2BRCA1p.Leu22SerVAR_007756
3BRCA1p.Cys61GlyVAR_007757rs28897672
4BRCA1p.Cys64GlyVAR_007758
5BRCA1p.Val271MetVAR_007761rs80357244
6BRCA1p.Phe461LeuVAR_007765rs56046357
7BRCA1p.Tyr465AspVAR_007766
8BRCA1p.Gly552ValVAR_007768
9BRCA1p.Leu892SerVAR_007775
10BRCA1p.Gly960AspVAR_007776
11BRCA1p.Thr1025IleVAR_007778
12BRCA1p.Val1047AlaVAR_007781
13BRCA1p.Pro1150SerVAR_007782rs80357272
14BRCA1p.Ala1708GluVAR_007796rs28897696
15BRCA1p.Met1775ArgVAR_007799
16BRCA1p.Glu10LysVAR_020679
17BRCA1p.Glu23LysVAR_020680
18BRCA1p.Asp749TyrVAR_020683
19BRCA1p.Ser1187IleVAR_020690
20BRCA1p.Gln1200HisVAR_020691rs56214134
21BRCA1p.Arg1204IleVAR_020692
22BRCA1p.Lys1207AsnVAR_020693
23BRCA1p.Ser1217TyrVAR_020695
24BRCA1p.Arg1699TrpVAR_020703
25BRCA1p.Met1775LysVAR_063212
26BRCA2p.Phe32LeuVAR_005085
27BRCA2p.Lys53ArgVAR_005086
28BRCA2p.Phe81LeuVAR_005088
29BRCA2p.Pro201ArgVAR_005089
30BRCA2p.Val211AlaVAR_005090
31BRCA2p.Pro222SerVAR_005091
32BRCA2p.Cys554TrpVAR_005095
33BRCA2p.Asp728AlaVAR_005097
34BRCA2p.Gly2274ValVAR_005105
35BRCA2p.His2415AsnVAR_005106
36BRCA2p.Gln2421HisVAR_005107
37BRCA2p.Met3118ThrVAR_005110
38BRCA2p.Thr3357ArgVAR_005111
39BRCA2p.Glu2089AspVAR_008783
40BRCA2p.Thr2722ArgVAR_018661
41BRCA2p.Ser1179AsnVAR_020715
42BRCA2p.Cys1580TyrVAR_020719
43BRCA2p.Thr1679IleVAR_020720
44BRCA2p.Val1804AlaVAR_020721
45BRCA2p.Glu1901LysVAR_020722
46BRCA2p.Ser2072CysVAR_020725
47BRCA2p.Tyr2094CysVAR_020726
48BRCA2p.Pro2096LeuVAR_020727
49BRCA2p.Lys2128AsnVAR_020729
50BRCA2p.Val2728IleVAR_020736rs28897749
51BRCA2p.Lys2729AsnVAR_020737rs80359065
52BRCA2p.Asn3124IleVAR_020743
53BRCA2p.Lys3196GluVAR_020744rs80359228
54BRCA2p.Gly25ArgVAR_028167
55BRCA2p.Trp31CysVAR_028168
56BRCA2p.Trp31ArgVAR_028169
57BRCA2p.Thr64IleVAR_032712
58BRCA2p.Ser326ArgVAR_032717rs28897706
59BRCA2p.Ile505ThrVAR_032718rs28897708
60BRCA2p.Ile729MetVAR_032719
61BRCA2p.Lys1690AsnVAR_032722
62BRCA2p.Asn1730TyrVAR_032723
63BRCA2p.Thr1887MetVAR_032724
64BRCA2p.Asn2135HisVAR_032728
65BRCA2p.Tyr2222CysVAR_032729
66BRCA2p.Gln2456GluVAR_032731
67BRIP1p.Pro47AlaVAR_020896rs28903098
68BRIP1p.Met299IleVAR_020900
69FAM175Ap.Arg361GlnVAR_071865rs201627097
70NBNp.Leu150PheVAR_025795
71PIK3CAp.Glu542LysVAR_026173
72PIK3CAp.Glu545LysVAR_026178
73PIK3CAp.His1047ArgVAR_026192
74RAD51p.Arg150GlnVAR_010899rs121917739

Clinvar genetic disease variations for Breast Cancer:

6 (show all 1,466)
id Gene Variation Type Significance SNP ID Assembly Location
1PALB2NM_024675.3(PALB2): c.3549C> G (p.Tyr1183Ter)single nucleotide variantPathogenic, risk factorrs118203998GRCh37Chr 16, 23614792: 23614792
2PALB2NM_024675.3(PALB2): c.2962C> T (p.Gln988Ter)single nucleotide variantPathogenic, risk factorrs118203999GRCh37Chr 16, 23634324: 23634324
3PALB2NM_024675.3(PALB2): c.1027C> T (p.Gln343Ter)single nucleotide variantPathogenicrs180177097GRCh38Chr 16, 23635519: 23635519
4PALB2NM_024675.3(PALB2): c.1050_1051delAAinsTCT (p.Gln350Hisfs)indelPathogenicrs180177098GRCh38Chr 16, 23635495: 23635496
5PALB2NM_024675.3(PALB2): c.1056_1057delGA (p.Lys353Ilefs)deletionPathogenicrs180177099GRCh38Chr 16, 23635489: 23635490
6PALB2NM_024675.3(PALB2): c.1314delA (p.Phe440Leufs)deletionPathogenicrs515726065GRCh38Chr 16, 23635232: 23635232
7PALB2NM_024675.3(PALB2): c.1317delG (p.Phe440Leufs)deletionPathogenicrs515726067GRCh38Chr 16, 23635229: 23635229
8PALB2NM_024675.3(PALB2): c.1479delC (p.Thr494Leufs)deletionPathogenicrs515726071GRCh38Chr 16, 23635067: 23635067
9PALB2NM_024675.3(PALB2): c.1592delT (p.Leu531Cysfs)deletionPathogenic, risk factorrs180177102GRCh38Chr 16, 23634954: 23634954
10PALB2NM_024675.3(PALB2): c.1633G> T (p.Glu545Ter)single nucleotide variantPathogenicrs180177103GRCh38Chr 16, 23634913: 23634913
11PALB2NM_024675.3(PALB2): c.172_175delTTGT (p.Gln60Argfs)deletionPathogenic, risk factorrs180177143GRCh38Chr 16, 23637886: 23637889
12PALB2NM_024675.3(PALB2): c.1947dupA (p.Glu650Argfs)duplicationPathogenicrs515726075GRCh38Chr 16, 23630207: 23630207
13PALB2NM_024675.3(PALB2): c.196C> T (p.Gln66Ter)single nucleotide variantPathogenicrs180177083GRCh38Chr 16, 23637865: 23637865
14PALB2NM_024675.3(PALB2): c.2145_2146delTA (p.Asp715Glufs)deletionPathogenicrs515726081GRCh38Chr 16, 23630008: 23630009
15PALB2NM_024675.3(PALB2): c.229delT (p.Cys77Valfs)deletionPathogenicrs180177084GRCh38Chr 16, 23636317: 23636317
16PALB2NM_024675.3(PALB2): c.2323C> T (p.Gln775Ter)single nucleotide variantPathogenicrs180177111GRCh38Chr 16, 23629831: 23629831
17PALB2NM_024675.3(PALB2): c.2386G> T (p.Gly796Ter)single nucleotide variantPathogenicrs180177112GRCh38Chr 16, 23629768: 23629768
18PALB2NM_024675.3(PALB2): c.2390delA (p.Gln797Hisfs)deletionPathogenicrs515726086GRCh38Chr 16, 23629764: 23629764
19PALB2PALB2: c.2515-1G> Tsingle nucleotide variantLikely pathogenic, Pathogenic, risk factorGRCh38Chr 16, 23629276: 23629276
20PALB2NM_024675.3(PALB2): c.2559C> T (p.Gly853=)single nucleotide variantLikely pathogenicrs180177115GRCh38Chr 16, 23629231: 23629231
21PALB2NM_024675.3(PALB2): c.2587-?_3201+?del (p.Asn863_Met1067del)deletionPathogenic
22PALB2NM_024675.3(PALB2): c.2686dupT (p.Ser896Phefs)duplicationPathogenicrs515726091GRCh38Chr 16, 23626298: 23626298
23PALB2NM_024675.3(PALB2): c.2718G> A (p.Trp906Ter)single nucleotide variantPathogenicrs180177122GRCh38Chr 16, 23626266: 23626266
24PALB2NM_024675.3(PALB2): c.2761C> T (p.Gln921Ter)single nucleotide variantPathogenicrs180177124GRCh38Chr 16, 23624082: 23624082
25PALB2NM_024675.3(PALB2): c.2835-1G> Csingle nucleotide variantLikely pathogenicrs515726099GRCh38Chr 16, 23623131: 23623131
26PALB2NM_024675.3(PALB2): c.2920_2921delAA (p.Lys974Glufs)deletionPathogenicrs180177126GRCh38Chr 16, 23623044: 23623045
27PALB2NM_024675.3(PALB2): c.2982dupT (p.Ala995Cysfs)duplicationPathogenicrs180177127GRCh38Chr 16, 23622983: 23622983
28PALB2NM_024675.3(PALB2): c.3026delC (p.Pro1009Leufs)deletionPathogenicrs180177131GRCh38Chr 16, 23621449: 23621449
29PALB2NM_024675.3(PALB2): c.3048delT (p.Phe1016Leufs)deletionPathogenicrs515726104GRCh38Chr 16, 23621427: 23621427
30PALB2NM_024675.3(PALB2): c.3113G> A (p.Trp1038Ter)single nucleotide variantPathogenicrs180177132GRCh38Chr 16, 23621362: 23621362
31PALB2NM_024675.3(PALB2): c.3116delA (p.Asn1039Ilefs)deletionPathogenic, risk factorrs180177133GRCh38Chr 16, 23614089: 23614089
32PALB2NM_024675.3(PALB2): c.3202-1G> Csingle nucleotide variantLikely pathogenicrs515726111GRCh38Chr 16, 23608013: 23608013
33PALB2PALB2: c.3202-?_*297del (p.Gly1068_Ser1186delins45)deletionPathogenicGRCh38Chr 16, 23603162: 23603162
34PALB2NM_024675.3(PALB2): c.3362delG (p.Gly1121Valfs)deletionPathogenicrs515726117GRCh38Chr 16, 23603658: 23603658
35PALB2NM_024675.3(PALB2): c.3497delG (p.Gly1166Valfs)deletionPathogenicrs180177138GRCh37Chr 16, 23614844: 23614844
36PALB2NM_024675.3(PALB2): c.400G> A (p.Asp134Asn)single nucleotide variantLikely pathogenicrs139555085GRCh38Chr 16, 23636146: 23636146
37PALB2NM_024675.3(PALB2): c.48+1G> Csingle nucleotide variantLikely pathogenicrs515726118GRCh38Chr 16, 23641109: 23641109
38PALB2NM_024675.3(PALB2): c.503C> A (p.Ser168Ter)single nucleotide variantPathogenicrs515726122GRCh38Chr 16, 23636043: 23636043
39PALB2NM_024675.3(PALB2): c.508_509delAG (p.Arg170Ilefs)deletionPathogenicrs515726123GRCh38Chr 16, 23636037: 23636038
40PALB2NM_024675.3(PALB2): c.509_510delGA (p.Arg170Ilefs)deletionPathogenicrs515726124GRCh38Chr 16, 23636036: 23636037
41PALB2NM_024675.3(PALB2): c.697delG (p.Val233Leufs)deletionPathogenicrs180177090GRCh38Chr 16, 23635849: 23635849
42PALB2NM_024675.3(PALB2): c.72delG (p.Arg26Glyfs)deletionPathogenicrs180177142GRCh38Chr 16, 23638106: 23638106
43PALB2NM_024675.3(PALB2): c.751C> T (p.Gln251Ter)single nucleotide variantPathogenicrs180177091GRCh38Chr 16, 23635795: 23635795
44PALB2NM_024675.3(PALB2): c.757_758delCT (p.Leu253Ilefs)deletionPathogenicrs180177092GRCh38Chr 16, 23635788: 23635789
45PALB2NM_024675.3(PALB2): c.758dupT (p.Ser254Ilefs)duplicationPathogenicrs515726126GRCh38Chr 16, 23635788: 23635788
46CHEK2NM_007194.3(CHEK2): c.1100delC (p.Thr367Metfs)deletionPathogenicGRCh37Chr 22, 29091857: 29091857
47PALB2NM_024675.3(PALB2): c.1240C> T (p.Arg414Ter)single nucleotide variantPathogenicrs180177100GRCh38Chr 16, 23635306: 23635306
48RAD51NM_002875.4(RAD51): c.449G> A (p.Arg150Gln)single nucleotide variantPathogenicrs121917739GRCh37Chr 15, 41011016: 41011016
49PALB2NM_024675.3(PALB2): c.2167_2168delAT (p.Met723Valfs)deletionPathogenicGRCh38Chr 16, 23629986: 23629987
50BRIP1NM_032043.2(BRIP1): c.627+1G> Asingle nucleotide variantPathogenicGRCh37Chr 17, 59924461: 59924461
51PIK3CANM_006218.2(PIK3CA): c.3140A> G (p.His1047Arg)single nucleotide variantPathogenicrs121913279GRCh37Chr 3, 178952085: 178952085
52PIK3CANM_006218.2(PIK3CA): c.3140A> T (p.His1047Leu)single nucleotide variantPathogenicrs121913279GRCh37Chr 3, 178952085: 178952085
53PIK3CANM_006218.2(PIK3CA): c.1633G> A (p.Glu545Lys)single nucleotide variantPathogenicrs104886003GRCh37Chr 3, 178936091: 178936091
54AKT1NM_001014431.1(AKT1): c.49G> A (p.Glu17Lys)single nucleotide variantPathogenicrs121434592GRCh37Chr 14, 105246551: 105246551
55BRCA1NM_007294.3(BRCA1): c.5205delA (p.Val1736Serfs)deletionPathogenicGRCh37Chr 17, 41209141: 41209141
56MT-CYBm.14766C> Tsingle nucleotide variantLikely pathogenicGRCh37Chr MT, 14766: 14766
57MT-CYBm.14783T> Csingle nucleotide variantLikely pathogenicGRCh37Chr MT, 14783: 14783
58MT-CYBm.15043G> Asingle nucleotide variantLikely pathogenicGRCh37Chr MT, 15043: 15043
59MT-CYBm.15287T> Csingle nucleotide variantLikely pathogenicGRCh37Chr MT, 15287: 15287
60MT-CYBm.15301G> Asingle nucleotide variantLikely pathogenicGRCh37Chr MT, 15301: 15301
61MT-CYBm.15326A> Gsingle nucleotide variantLikely pathogenicGRCh37Chr MT, 15326: 15326
62MT-CYBNC_012920.1: m.14800C> Tsingle nucleotide variantLikely pathogenicGRCh37Chr MT, 14800: 14800
63MT-CYBNC_012920.1: m.14891C> Gsingle nucleotide variantLikely pathogenicGRCh37Chr MT, 14891: 14891
64MT-CYBNC_012920.1: m.14950C> Tsingle nucleotide variantLikely pathogenicGRCh37Chr MT, 14950: 14950
65MT-CYBNC_012920.1: m.14968T> Csingle nucleotide variantLikely pathogenicGRCh37Chr MT, 14968: 14968
66MT-CYBNC_012920.1: m.14974C> Gsingle nucleotide variantLikely pathogenicGRCh37Chr MT, 14974: 14974
67MT-CYBNC_012920.1: m.15001T> Csingle nucleotide variantLikely pathogenicGRCh37Chr MT, 15001: 15001
68MT-CYBNC_012920.1: m.15049C> Tsingle nucleotide variantLikely pathogenicGRCh37Chr MT, 15049: 15049
69MT-CYBNC_012920.1: m.15214T> Csingle nucleotide variantLikely pathogenicGRCh37Chr MT, 15214: 15214
70MT-CYBNC_012920.1: m.15226A> Gsingle nucleotide variantLikely pathogenicGRCh37Chr MT, 15226: 15226
71MT-CYBNC_012920.1: m.15289T> Csingle nucleotide variantLikely pathogenicGRCh37Chr MT, 15289: 15289
72MT-CYBNC_012920.1: m.15323G> Asingle nucleotide variantLikely pathogenicGRCh37Chr MT, 15323: 15323
73MT-CYBNC_012920.1: m.15346G> Asingle nucleotide variantLikely pathogenicGRCh37Chr MT, 15346: 15346
74MT-CYBNC_012920.1: m.15349C> Asingle nucleotide variantLikely pathogenicGRCh37Chr MT, 15349: 15349
75MT-CYBNC_012920.1: m.15349C> Tsingle nucleotide variantLikely pathogenicGRCh37Chr MT, 15349: 15349
76MT-CYBNC_012920.1: m.15355G> Asingle nucleotide variantLikely pathogenicGRCh37Chr MT, 15355: 15355
77MT-CYBNC_012920.1: m.15385C> Tsingle nucleotide variantLikely pathogenicGRCh37Chr MT, 15385: 15385
78MT-CYBNC_012920.1: m.15458T> Csingle nucleotide variantLikely pathogenicGRCh37Chr MT, 15458: 15458
79MT-CYBNC_012920.1: m.15470T> Csingle nucleotide variantLikely pathogenicGRCh37Chr MT, 15470: 15470
80MT-CYBNC_012920.1: m.15553G> Asingle nucleotide variantLikely pathogenicGRCh37Chr MT, 15553: 15553
81MT-CYBNC_012920.1: m.15637C> Tsingle nucleotide variantLikely pathogenicGRCh37Chr MT, 15637: 15637
82MT-CYBNC_012920.1: m.15649A> Gsingle nucleotide variantLikely pathogenicGRCh37Chr MT, 15649: 15649
83MT-CYBNC_012920.1: m.15682A> Gsingle nucleotide variantLikely pathogenicGRCh37Chr MT, 15682: 15682
84MT-CYBNC_012920.1: m.15758A> Gsingle nucleotide variantLikely pathogenicGRCh37Chr MT, 15758: 15758
85MT-CYBNC_012920.1: m.15784T> Csingle nucleotide variantLikely pathogenicGRCh37Chr MT, 15784: 15784
86MT-TTNC_012920.1: m.15927G> Asingle nucleotide variantLikely pathogenicGRCh38Chr MT, 15927: 15927
87MT-TENC_012920.1: m.14732A> Gsingle nucleotide variantLikely pathogenicGRCh37Chr MT, 14732: 14732
88MT-CYBNC_012920.1: m.14905G> Asingle nucleotide variantLikely pathogenicGRCh37Chr MT, 14905: 14905
89MT-CYBNC_012920.1: m.14935T> Csingle nucleotide variantLikely pathogenicGRCh37Chr MT, 14935: 14935
90BRCA1NM_007294.3(BRCA1): c.190T> G (p.Cys64Gly)single nucleotide variantPathogenicrs80357064GRCh37Chr 17, 41258495: 41258495
91BRCA1NM_007294.3(BRCA1): c.68_69delAG (p.Glu23Valfs)deletionPathogenic, risk factorrs80357713GRCh37Chr 17, 41276047: 41276048
92BRCA1NM_007294.3(BRCA1): c.2296_2297delAG (p.Ser766Terfs)deletionPathogenicrs80357780GRCh37Chr 17, 41245251: 41245252
93BRCA1NM_007294.3(BRCA1): c.2681_2682delAA (p.Lys894Thrfs)deletionPathogenicrs80357971GRCh37Chr 17, 41244866: 41244867
94BRCA1NM_007294.3(BRCA1): c.3748G> T (p.Glu1250Ter)single nucleotide variantPathogenicrs28897686GRCh37Chr 17, 41243800: 41243800
95BRCA1NM_007294.3(BRCA1): c.3756_3759delGTCT (p.Ser1253Argfs)deletionPathogenicrs80357868GRCh37Chr 17, 41243789: 41243792
96BRCA1NM_007294.3(BRCA1): c.5266dupC (p.Gln1756Profs)duplicationPathogenic, risk factorrs80357906GRCh37Chr 17, 41209083: 41209083
97BRCA1NM_007294.3(BRCA1): c.2389G> T (p.Glu797Ter)single nucleotide variantPathogenicrs62625306GRCh37Chr 17, 41245159: 41245159
98BRCA1NM_007294.3(BRCA1): c.843_846delCTCA (p.Ser282Tyrfs)deletionPathogenicrs80357919GRCh37Chr 17, 41246702: 41246705
99BRCA1NM_007294.3(BRCA1): c.1556delA (p.Lys519Argfs)deletionPathogenicrs80357662GRCh37Chr 17, 41245992: 41245992
100BRCA1NM_007294.3(BRCA1): c.211A> G (p.Arg71Gly)single nucleotide variantPathogenicrs80357382GRCh37Chr 17, 41258474: 41258474
101BRCA1NM_007294.3(BRCA1): c.5324T> G (p.Met1775Arg)single nucleotide variantPathogenicrs41293463GRCh37Chr 17, 41203088: 41203088
102BRCA1NM_007294.3(BRCA1): c.5324T> A (p.Met1775Lys)single nucleotide variantLikely pathogenic, Pathogenicrs41293463GRCh37Chr 17, 41203088: 41203088
103ATMATM, IVS61DS, 2-BP INS, +2TAinsertionPathogenic
104ATMNM_000051.3(ATM): c.1066-6T> Gsingle nucleotide variantPathogenic, risk factorrs201686625GRCh38Chr 11, 108248927: 108248927
105BRCA1NM_007294.3(BRCA1): c.1016delA (p.Lys339Argfs)deletionPathogenicrs80357618GRCh37Chr 17, 41246532: 41246532
106BRCA1NM_007294.3(BRCA1): c.1018delG (p.Val340Terfs)deletionPathogenicrs80357774GRCh37Chr 17, 41246530: 41246530
107BRCA1NM_007294.3(BRCA1): c.1121delC (p.Thr374Asnfs)deletionPathogenicrs80357612GRCh37Chr 17, 41246427: 41246427
108BRCA1NM_007294.3(BRCA1): c.116G> A (p.Cys39Tyr)single nucleotide variantPathogenicrs80357498GRCh37Chr 17, 41267761: 41267761
109BRCA1NM_007294.3(BRCA1): c.135-1G> Tsingle nucleotide variantPathogenicrs80358158GRCh37Chr 17, 41258551: 41258551
110BRCA1NM_007294.3(BRCA1): c.1360_1361delAG (p.Ser454Terfs)deletionPathogenicrs80357969GRCh37Chr 17, 41246187: 41246188
111BRCA1NM_007294.3(BRCA1): c.143delT (p.Met48Serfs)deletionPathogenicrs80357637GRCh37Chr 17, 41258542: 41258542
112BRCA1NM_007294.3(BRCA1): c.1444_1447delATTA (p.Ile482Terfs)deletionPathogenicrs80357801GRCh37Chr 17, 41246101: 41246104
113BRCA1NM_007294.3(BRCA1): c.1480C> T (p.Gln494Ter)single nucleotide variantPathogenicrs80357010GRCh37Chr 17, 41246068: 41246068
114BRCA1NM_007294.3(BRCA1): c.1504_1508delTTAAA (p.Leu502Alafs)deletionPathogenicrs80357888GRCh37Chr 17, 41246040: 41246044
115BRCA1NM_007294.3(BRCA1): c.1510delC (p.Arg504Valfs)deletionPathogenicrs80357908GRCh37Chr 17, 41246038: 41246038
116BRCA1NM_007294.3(BRCA1): c.1674delA (p.Gly559Valfs)deletionPathogenicrs80357600GRCh37Chr 17, 41245874: 41245874
117BRCA1NM_007294.3(BRCA1): c.1953_1956delGAAA (p.Lys653Serfs)deletionPathogenicrs80357526GRCh37Chr 17, 41245592: 41245595
118BRCA1NM_007294.3(BRCA1): c.1960A> T (p.Lys654Ter)single nucleotide variantPathogenicrs80357355GRCh37Chr 17, 41245588: 41245588
119BRCA1NM_007294.3(BRCA1): c.1961delA (p.Lys654Serfs)deletionPathogenicrs80357522GRCh37Chr 17, 41245587: 41245587
120BRCA1NM_007294.3(BRCA1): c.2071delA (p.Arg691Aspfs)deletionPathogenicrs80357688GRCh37Chr 17, 41245477: 41245477
121BRCA1NM_007294.3(BRCA1): c.212+1G> Asingle nucleotide variantPathogenicrs80358042GRCh37Chr 17, 41258472: 41258472
122BRCA1NM_007294.3(BRCA1): c.213-11T> Gsingle nucleotide variantPathogenicrs80358061GRCh37Chr 17, 41256984: 41256984
123BRCA1NM_007294.3(BRCA1): c.213-12A> Gsingle nucleotide variantPathogenicrs80358163GRCh37Chr 17, 41256985: 41256985
124BRCA1NM_007294.3(BRCA1): c.2138C> G (p.Ser713Ter)single nucleotide variantPathogenicrs80357233GRCh37Chr 17, 41245410: 41245410
125BRCA1NM_007294.3(BRCA1): c.2158G> T (p.Glu720Ter)single nucleotide variantPathogenicrs80356875GRCh37Chr 17, 41245390: 41245390
126BRCA1NM_007294.3(BRCA1): c.2210_2211delCA (p.Thr737Serfs)deletionPathogenicrs80357654GRCh37Chr 17, 41245337: 41245338
127BRCA1NM_007294.3(BRCA1): c.2269delG (p.Val757Phefs)deletionPathogenicrs80357583GRCh37Chr 17, 41245279: 41245279
128BRCA1NM_007294.3(BRCA1): c.2299delA (p.Ser767Alafs)deletionPathogenicrs80357786GRCh37Chr 17, 41245249: 41245249
129BRCA1NM_007294.3(BRCA1): c.2433delC (p.Lys812Argfs)deletionPathogenicrs80357524GRCh37Chr 17, 41245115: 41245115
130BRCA1NM_007294.3(BRCA1): c.2457delC (p.Asp821Ilefs)deletionPathogenicrs80357669GRCh37Chr 17, 41245091: 41245091
131BRCA1NM_007294.3(BRCA1): c.2475delC (p.Asp825Glufs)deletionPathogenicrs80357970GRCh37Chr 17, 41245073: 41245073
132BRCA1NM_007294.3(BRCA1): c.2515delC (p.His839Thrfs)deletionPathogenicrs80357607GRCh37Chr 17, 41245033: 41245033
133BRCA1NM_007294.3(BRCA1): c.2563C> T (p.Gln855Ter)single nucleotide variantPathogenicrs80357131GRCh37Chr 17, 41244985: 41244985
134BRCA1NM_007294.3(BRCA1): c.2603C> G (p.Ser868Ter)single nucleotide variantPathogenicrs80356925GRCh37Chr 17, 41244945: 41244945
135BRCA1NM_007294.3(BRCA1): c.2635G> T (p.Glu879Ter)single nucleotide variantPathogenicrs80357251GRCh37Chr 17, 41244913: 41244913
136BRCA1NM_007294.3(BRCA1): c.2679_2682delGAAA (p.Lys893Asnfs)deletionPathogenicrs80357596GRCh37Chr 17, 41244866: 41244869
137BRCA1NM_007294.3(BRCA1): c.2710G> T (p.Glu904Ter)single nucleotide variantPathogenicrs80357035GRCh37Chr 17, 41244838: 41244838
138BRCA1NM_007294.3(BRCA1): c.2806_2809delGATA (p.Asp936Serfs)deletionPathogenicrs80357832GRCh37Chr 17, 41244739: 41244742
139BRCA1NM_007294.3(BRCA1): c.2934T> G (p.Tyr978Ter)single nucleotide variantPathogenicrs80357115GRCh37Chr 17, 41244614: 41244614
140BRCA1NM_007294.3(BRCA1): c.302-2A> Csingle nucleotide variantPathogenicrs80358011GRCh37Chr 17, 41256280: 41256280
141BRCA1NM_007294.3(BRCA1): c.302-3C> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs80358051GRCh37Chr 17, 41256281: 41256281
142BRCA1NM_007294.3(BRCA1): c.3112G> T (p.Glu1038Ter)single nucleotide variantPathogenicrs80357161GRCh37Chr 17, 41244436: 41244436
143BRCA1NM_007294.3(BRCA1): c.3228_3229delAG (p.Gly1077Alafs)deletionPathogenicrs80357635GRCh37Chr 17, 41244319: 41244320
144BRCA1NM_007294.3(BRCA1): c.3331_3334delCAAG (p.Gln1111Asnfs)deletionPathogenicrs80357903GRCh37Chr 17, 41244214: 41244217
145BRCA1NM_007294.3(BRCA1): c.3358_3359delGT (p.Val1120Terfs)deletionPathogenicrs80357945GRCh37Chr 17, 41244189: 41244190
146BRCA1NM_007294.3(BRCA1): c.3389C> G (p.Ser1130Ter)single nucleotide variantPathogenicrs80357405GRCh37Chr 17, 41244159: 41244159
147BRCA1NM_007294.3(BRCA1): c.3400G> T (p.Glu1134Ter)single nucleotide variantPathogenicrs80357018GRCh37Chr 17, 41244148: 41244148
148BRCA1NM_007294.3(BRCA1): c.3442delG (p.Glu1148Argfs)deletionPathogenicrs80357808GRCh37Chr 17, 41244106: 41244106
149BRCA1NM_007294.3(BRCA1): c.3612delA (p.Ala1206Profs)deletionPathogenicrs80357980GRCh37Chr 17, 41243936: 41243936
150BRCA1NM_007294.3(BRCA1): c.3627dupA (p.Glu1210Argfs)duplicationPathogenicrs80357729GRCh37Chr 17, 41243920: 41243921
151BRCA1NM_007294.3(BRCA1): c.3648dupA (p.Ser1217Ilefs)duplicationPathogenicrs80357902GRCh37Chr 17, 41243899: 41243900
152BRCA1NM_007294.3(BRCA1): c.3689T> G (p.Leu1230Ter)single nucleotide variantPathogenicrs80357162GRCh37Chr 17, 41243859: 41243859
153BRCA1NM_007294.3(BRCA1): c.3759_3760delTA (p.Lys1254Glufs)deletionPathogenicrs80357520GRCh37Chr 17, 41243788: 41243789
154BRCA1NM_007294.3(BRCA1): c.3764dupA (p.Asn1255Lysfs)duplicationPathogenicrs80357848GRCh37Chr 17, 41243783: 41243784
155BRCA1NM_007294.3(BRCA1): c.3770_3771delAG (p.Glu1257Glyfs)deletionPathogenicrs80357993GRCh37Chr 17, 41243777: 41243778
156BRCA1NM_007294.3(BRCA1): c.3858_3861delTGAG (p.Ser1286Argfs)deletionPathogenicrs80357889GRCh37Chr 17, 41243687: 41243690
157BRCA1NM_007294.3(BRCA1): c.3868A> T (p.Lys1290Ter)single nucleotide variantPathogenicrs80357254GRCh37Chr 17, 41243680: 41243680
158BRCA1NM_007294.3(BRCA1): c.3937C> T (p.Gln1313Ter)single nucleotide variantPathogenicrs80357318GRCh37Chr 17, 41243611: 41243611
159BRCA1NM_007294.3(BRCA1): c.3991C> T (p.Gln1331Ter)single nucleotide variantPathogenicrs397507224GRCh37Chr 17, 41243557: 41243557
160BRCA1NM_007294.3(BRCA1): c.4015G> T (p.Glu1339Ter)single nucleotide variantPathogenicrs80357021GRCh37Chr 17, 41243533: 41243533
161BRCA1NM_007294.3(BRCA1): c.4035delA (p.Glu1346Lysfs)deletionPathogenicrs80357711GRCh37Chr 17, 41243513: 41243513
162BRCA1NM_007294.3(BRCA1): c.4096+1G> Asingle nucleotide variantPathogenicrs80358178GRCh37Chr 17, 41243451: 41243451
163BRCA1NM_007294.3(BRCA1): c.4096+3A> Gsingle nucleotide variantPathogenicrs80358015GRCh37Chr 17, 41243449: 41243449
164BRCA1NM_007294.3(BRCA1): c.4097-1G> Asingle nucleotide variantPathogenicrs80358070GRCh37Chr 17, 41243050: 41243050
165BRCA1NM_007294.3(BRCA1): c.4116_4117delTG (p.Cys1372Terfs)deletionPathogenicrs80357804GRCh37Chr 17, 41243029: 41243030
166BRCA1NM_007294.3(BRCA1): c.4117G> T (p.Glu1373Ter)single nucleotide variantPathogenicrs80357259GRCh37Chr 17, 41243029: 41243029
167BRCA1NM_007294.3(BRCA1): c.4120_4121delAG (p.Ser1374Terfs)deletionPathogenicrs80357787GRCh37Chr 17, 41243025: 41243026
168BRCA1NM_007294.3(BRCA1): c.4148C> G (p.Ser1383Ter)single nucleotide variantPathogenicrs80357071GRCh37Chr 17, 41242998: 41242998
169BRCA1NM_007294.3: c.4185+2_4185+22del21insAindelPathogenicrs273900724GRCh37Chr 17, 41242939: 41242959
170BRCA1NM_007294.3(BRCA1): c.4243delG (p.Glu1415Lysfs)deletionPathogenicrs80357981GRCh37Chr 17, 41234535: 41234535
171BRCA1NM_007294.3(BRCA1): c.4251_4252delGT (p.Leu1418Argfs)deletionPathogenicrs80357977GRCh37Chr 17, 41234526: 41234527
172BRCA1NM_007294.3(BRCA1): c.427G> T (p.Glu143Ter)single nucleotide variantPathogenicrs80356991GRCh37Chr 17, 41256153: 41256153
173BRCA1NM_007294.3(BRCA1): c.4357+1G> Asingle nucleotide variantPathogenicrs80358027GRCh37Chr 17, 41234420: 41234420
174BRCA1NM_007294.3(BRCA1): c.4391_4393delCTAinsTT (p.Pro1464Leufs)indelPathogenicrs273900730GRCh37Chr 17, 41228596: 41228598
175BRCA1NM_007294.3(BRCA1): c.4391delC (p.Pro1464Leufs)deletionPathogenicrs80357916GRCh37Chr 17, 41228598: 41228598
176BRCA1NM_007294.3(BRCA1): c.4393delA (p.Ile1465Terfs)deletionPathogenicrs397507230GRCh37Chr 17, 41228596: 41228596
177BRCA1NM_007294.3(BRCA1): c.4482_4483delAA (p.Arg1495Valfs)deletionPathogenicrs80357854GRCh37Chr 17, 41228506: 41228507
178BRCA1NM_007294.3(BRCA1): c.4484+1G> Asingle nucleotide variantPathogenicrs80358063GRCh37Chr 17, 41228504: 41228504
179BRCA1NM_007294.3(BRCA1): c.4484G> A (p.Arg1495Lys)single nucleotide variantPathogenicrs80357389GRCh37Chr 17, 41228505: 41228505
180BRCA1NM_007294.3(BRCA1): c.4675G> A (p.Glu1559Lys)single nucleotide variantPathogenicrs80356988GRCh37Chr 17, 41226348: 41226348
181BRCA1NM_007294.3(BRCA1): c.4675G> C (p.Glu1559Gln)single nucleotide variantLikely pathogenic, Pathogenicrs80356988GRCh37Chr 17, 41226348: 41226348
182BRCA1NM_007294.3(BRCA1): c.470_471delCT (p.Ser157Terfs)deletionPathogenicrs80357887GRCh37Chr 17, 41251868: 41251869
183BRCA1NM_007294.3(BRCA1): c.4749_4750delAG (p.Arg1583Serfs)deletionPathogenicrs80357641GRCh37Chr 17, 41223181: 41223182
184BRCA1NM_007294.3(BRCA1): c.4868C> G (p.Ala1623Gly)single nucleotide variantLikely pathogenic, Pathogenicrs80356862GRCh37Chr 17, 41223063: 41223063
185BRCA1NM_007294.3(BRCA1): c.4986+1G> Tsingle nucleotide variantPathogenicrs80358162GRCh37Chr 17, 41222944: 41222944
186BRCA1NM_007294.3(BRCA1): c.5030_5033delCTAA (p.Thr1677Ilefs)deletionPathogenicrs80357862GRCh37Chr 17, 41219666: 41219669
187BRCA1NM_007294.3(BRCA1): c.5035_5039delCTAAT (p.Leu1679Tyrfs)deletionPathogenicrs80357623GRCh37Chr 17, 41219660: 41219664
188BRCA1NM_007294.3(BRCA1): c.5066T> G (p.Met1689Arg)single nucleotide variantPathogenicrs80357061GRCh37Chr 17, 41219633: 41219633
189BRCA1NM_007294.3(BRCA1): c.5068A> T (p.Lys1690Ter)single nucleotide variantPathogenicrs397507239GRCh37Chr 17, 41219631: 41219631
190BRCA1NM_007294.3(BRCA1): c.5074+1G> Asingle nucleotide variantPathogenicrs80358053GRCh37Chr 17, 41219624: 41219624
191BRCA1NM_007294.3(BRCA1): c.5074+1G> Tsingle nucleotide variantLikely pathogenic, Pathogenicrs80358053GRCh37Chr 17, 41219624: 41219624
192BRCA1NM_007294.3(BRCA1): c.5074G> A (p.Asp1692Asn)single nucleotide variantLikely pathogenic, Pathogenicrs80187739GRCh37Chr 17, 41219625: 41219625
193BRCA1NM_007294.3(BRCA1): c.5074G> C (p.Asp1692His)single nucleotide variantPathogenicrs80187739GRCh37Chr 17, 41219625: 41219625
194BRCA1NM_007294.3(BRCA1): c.5096G> A (p.Arg1699Gln)single nucleotide variantLikely pathogenic, Pathogenicrs41293459GRCh37Chr 17, 41215947: 41215947
195BRCA1NM_007294.3(BRCA1): c.5117G> A (p.Gly1706Glu)single nucleotide variantLikely pathogenicrs80356860GRCh37Chr 17, 41215926: 41215926
196BRCA1NM_007294.3(BRCA1): c.5152+1G> Csingle nucleotide variantPathogenicrs80358094GRCh37Chr 17, 41215890: 41215890
197BRCA1NM_007294.3(BRCA1): c.5153-1G> Csingle nucleotide variantLikely pathogenic, Pathogenicrs80358137GRCh37Chr 17, 41215391: 41215391
198BRCA1NM_007294.3(BRCA1): c.5177_5180delGAAA (p.Arg1726Lysfs)deletionPathogenicrs80357975GRCh37Chr 17, 41215363: 41215366
199BRCA1NM_007294.3(BRCA1): c.5179A> T (p.Lys1727Ter)single nucleotide variantPathogenicrs80357347GRCh37Chr 17, 41215364: 41215364
200BRCA1NM_007294.3(BRCA1): c.5194-2A> Gsingle nucleotide variantPathogenicrs80358069GRCh37Chr 17, 41209154: 41209154
201BRCA1NM_007294.3(BRCA1): c.5207T> C (p.Val1736Ala)single nucleotide variantPathogenicrs45553935GRCh37Chr 17, 41209139: 41209139
202BRCA1NM_007294.3(BRCA1): c.5277+1G> Asingle nucleotide variantPathogenicrs80358150GRCh37Chr 17, 41209068: 41209068
203BRCA1NM_007294.3(BRCA1): c.5297T> G (p.Ile1766Ser)single nucleotide variantPathogenicrs80357463GRCh37Chr 17, 41203115: 41203115
204BRCA1NM_007294.3(BRCA1): c.5346G> A (p.Trp1782Ter)single nucleotide variantPathogenicrs80357284GRCh37Chr 17, 41201198: 41201198
205BRCA1NM_007294.3(BRCA1): c.5363G> T (p.Gly1788Val)single nucleotide variantPathogenicrs80357069GRCh37Chr 17, 41201181: 41201181
206BRCA1NM_007294.3(BRCA1): c.5387C> A (p.Ser1796Ter)single nucleotide variantPathogenicrs80357055GRCh37Chr 17, 41201157: 41201157
207BRCA1NM_007294.3(BRCA1): c.53T> C (p.Met18Thr)single nucleotide variantLikely pathogenicrs80356929GRCh37Chr 17, 41276061: 41276061
208BRCA1NM_007294.3(BRCA1): c.5417delC (p.Pro1806Glnfs)deletionPathogenicrs80357558GRCh37Chr 17, 41199710: 41199710
209BRCA1NM_007294.3(BRCA1): c.5453A> G (p.Asp1818Gly)single nucleotide variantPathogenicrs80357477GRCh37Chr 17, 41199674: 41199674
210BRCA1NM_007294.3(BRCA1): c.5467+1G> Asingle nucleotide variantPathogenicrs80358145GRCh37Chr 17, 41199659: 41199659
211BRCA1NM_007294.3(BRCA1): c.547+2T> Asingle nucleotide variantPathogenicrs80358047GRCh37Chr 17, 41251790: 41251790
212BRCA1NM_007294.3(BRCA1): c.5509T> C (p.Trp1837Arg)single nucleotide variantLikely pathogenicrs80356959GRCh37Chr 17, 41197778: 41197778
213BRCA1NM_007294.3(BRCA1): c.66dupA (p.Glu23Argfs)duplicationPathogenicrs80357783GRCh37Chr 17, 41276047: 41276048
214BRCA1NM_007294.3(BRCA1): c.697_698delGT (p.Val233Asnfs)deletionPathogenicrs80357747GRCh37Chr 17, 41246850: 41246851
215BRCA1NM_007294.3(BRCA1): c.783T> G (p.Tyr261Ter)single nucleotide variantPathogenicrs80357321GRCh37Chr 17, 41246765: 41246765
216BRCA1NM_007294.3(BRCA1): c.798_799delTT (p.Ser267Lysfs)deletionPathogenicrs80357724GRCh37Chr 17, 41246749: 41246750
217BRCA1NM_007294.3(BRCA1): c.85G> T (p.Glu29Ter)single nucleotide variantPathogenicrs80357443GRCh37Chr 17, 41267792: 41267792
218BRCA1NM_007294.3(BRCA1): c.929delA (p.Gln310Argfs)deletionPathogenicrs80357844GRCh37Chr 17, 41246619: 41246619
219BRCA1NM_007294.3(BRCA1): c.952_1015del64 (p.His318Argfs)deletionPathogenicrs80359872GRCh37Chr 17, 41246533: 41246596
220BRCA2NM_000059.3(BRCA2): c.1029delA (p.Lys343Asnfs)deletionPathogenicrs80359260GRCh37Chr 13, 32906644: 32906644
221BRCA2NM_000059.3(BRCA2): c.1238delT (p.Leu413Hisfs)deletionPathogenicrs80359271GRCh37Chr 13, 32906853: 32906853
222BRCA2NM_000059.3(BRCA2): c.1257delT (p.Cys419Trpfs)deletionPathogenicrs80359272GRCh37Chr 13, 32906872: 32906872
223BRCA2NM_000059.3(BRCA2): c.1265delA (p.Asn422Ilefs)deletionPathogenicrs80359273GRCh37Chr 13, 32906880: 32906880
224BRCA2NM_000059.3(BRCA2): c.1296_1297delGA (p.Asn433Glnfs)deletionPathogenicrs80359276GRCh37Chr 13, 32906911: 32906912
225BRCA2NM_000059.3(BRCA2): c.1310_1313delAAGA (p.Lys437Ilefs)deletionPathogenicrs80359280GRCh37Chr 13, 32906925: 32906928
226BRCA2NM_000059.3(BRCA2): c.1593dupA (p.Glu532Argfs)duplicationPathogenicrs397507272GRCh37Chr 13, 32907208: 32907209
227BRCA2NM_000059.3(BRCA2): c.1755_1759delGAAAA (p.Lys585Asnfs)deletionPathogenicrs80359302GRCh37Chr 13, 32907370: 32907374
228BRCA2NM_000059.3(BRCA2): c.1796_1800delCTTAT (p.Ser599Terfs)deletionPathogenicrs276174814GRCh37Chr 13, 32907411: 32907415
229BRCA2NM_000059.3(BRCA2): c.1813delA (p.Ile605Tyrfs)deletionPathogenicrs80359309GRCh37Chr 13, 32907428: 32907428
230BRCA2NM_000059.3(BRCA2): c.1832C> A (p.Ser611Ter)single nucleotide variantPathogenicrs80358474GRCh37Chr 13, 32907447: 32907447
231BRCA2NM_000059.3(BRCA2): c.1929delG (p.Arg645Glufs)deletionPathogenicrs80359316GRCh37Chr 13, 32910421: 32910421
232BRCA2NM_000059.3(BRCA2): c.2036delA (p.Asn679Ilefs)deletionPathogenicrs80359318GRCh37Chr 13, 32910528: 32910528
233BRCA2NM_000059.3(BRCA2): c.2092delC (p.Leu698Tyrfs)deletionPathogenicrs80359322GRCh37Chr 13, 32910584: 32910584
234BRCA2NM_000059.3(BRCA2): c.2231C> G (p.Ser744Ter)single nucleotide variantPathogenicrs397507282GRCh37Chr 13, 32910723: 32910723
235BRCA2NM_000059.3(BRCA2): c.2409T> G (p.Tyr803Ter)single nucleotide variantPathogenicrs80358504GRCh37Chr 13, 32910901: 32910901
236BRCA2NM_000059.3(BRCA2): c.2588dupA (p.Asn863Lysfs)duplicationPathogenicrs80359338GRCh37Chr 13, 32911080: 32911080
237BRCA2NM_000059.3(BRCA2): c.274C> T (p.Gln92Ter)single nucleotide variantPathogenicrs80358529GRCh37Chr 13, 32893420: 32893420
238BRCA2NM_000059.3(BRCA2): c.2818C> T (p.Gln940Ter)single nucleotide variantPathogenicrs80358532GRCh37Chr 13, 32911310: 32911310
239BRCA2NM_000059.3(BRCA2): c.2979G> A (p.Trp993Ter)single nucleotide variantPathogenicrs80358544GRCh37Chr 13, 32911471: 32911471
240BRCA2NM_000059.3(BRCA2): c.3158T> G (p.Leu1053Ter)single nucleotide variantPathogenicrs41293477GRCh37Chr 13, 32911650: 32911650
241BRCA2NM_000059.3(BRCA2): c.3160_3163delGATA (p.Asp1054Ilefs)deletionPathogenicrs80359371GRCh37Chr 13, 32911652: 32911655
242BRCA2NM_000059.3(BRCA2): c.3170_3174delAGAAA (p.Lys1057Thrfs)deletionPathogenicrs80359373GRCh37Chr 13, 32911662: 32911666
243BRCA2NM_000059.3(BRCA2): c.3264dupT (p.Gln1089Serfs)duplicationPathogenicrs80359380GRCh37Chr 13, 32911756: 32911756
244BRCA2NM_000059.3(BRCA2): c.3545_3546delTT (p.Phe1182Terfs)deletionLikely pathogenic, Pathogenicrs80359388GRCh37Chr 13, 32912037: 32912038
245BRCA2NM_000059.3(BRCA2): c.3689delC (p.Ser1230Leufs)deletionPathogenicrs80359398GRCh37Chr 13, 32912181: 32912181
246BRCA2NM_000059.3(BRCA2): c.3744_3747delTGAG (p.Ser1248Argfs)deletionPathogenicrs80359403GRCh37Chr 13, 32912236: 32912239
247BRCA2NM_000059.3(BRCA2): c.3865_3868delAAAT (p.Lys1289Alafs)deletionPathogenicrs80359412GRCh37Chr 13, 32912357: 32912360
248BRCA2NM_000059.3(BRCA2): c.3922G> T (p.Glu1308Ter)single nucleotide variantPathogenicrs80358638GRCh37Chr 13, 32912414: 32912414
249BRCA2NM_000059.3(BRCA2): c.396T> A (p.Cys132Ter)single nucleotide variantPathogenicrs397507320GRCh37Chr 13, 32899292: 32899292
250BRCA2NM_000059.3(BRCA2): c.3delG (p.Met1Ilefs)deletionPathogenicrs80359418GRCh37Chr 13, 32890600: 32890600
251BRCA2NM_000059.3(BRCA2): c.407delA (p.Asn136Ilefs)deletionPathogenicrs80359425GRCh37Chr 13, 32899303: 32899303
252BRCA2NM_000059.3(BRCA2): c.4092_4093delAT (p.Ile1364Metfs)deletionPathogenicrs80359426GRCh37Chr 13, 32912584: 32912585
253BRCA2NM_000059.3(BRCA2): c.4163_4164delCTinsA (p.Thr1388Asnfs)indelPathogenicrs276174843GRCh37Chr 13, 32912655: 32912656
254BRCA2NM_000059.3(BRCA2): c.4222C> T (p.Gln1408Ter)single nucleotide variantPathogenicrs80358663GRCh37Chr 13, 32912714: 32912714
255BRCA2NM_000059.3(BRCA2): c.4243G> T (p.Glu1415Ter)single nucleotide variantPathogenicrs397507327GRCh37Chr 13, 32912735: 32912735
256BRCA2NM_000059.3(BRCA2): c.4276dupA (p.Thr1426Asnfs)duplicationPathogenicrs80359438GRCh37Chr 13, 32912768: 32912768
257BRCA2NM_000059.3(BRCA2): c.4414_4415delAA (p.Lys1472Glufs)deletionPathogenicrs397507332GRCh37Chr 13, 32912906: 32912907
258BRCA2NM_000059.3(BRCA2): c.4449delA (p.Asp1484Thrfs)deletionPathogenicrs80359448GRCh37Chr 13, 32912941: 32912941
259BRCA2NM_000059.3(BRCA2): c.4631dupA (p.Asn1544Lysfs)duplicationPathogenicrs80359460GRCh37Chr 13, 32913123: 32913123
260BRCA2NM_000059.3(BRCA2): c.475+4delTdeletionLikely pathogenicrs276174848GRCh37Chr 13, 32900291: 32900291
261BRCA2NM_000059.3(BRCA2): c.476-1G> Asingle nucleotide variantPathogenicrs397507340GRCh37Chr 13, 32900378: 32900378
262BRCA2NM_000059.3(BRCA2): c.476-2A> Gsingle nucleotide variantPathogenicrs81002853GRCh37Chr 13, 32900377: 32900377
263BRCA2NM_000059.3(BRCA2): c.4936_4939delGAAA (p.Glu1646Glnfs)deletionPathogenicrs80359473GRCh37Chr 13, 32913428: 32913431
264BRCA2NM_000059.3(BRCA2): c.4965C> G (p.Tyr1655Ter)single nucleotide variantPathogenicrs80358721GRCh37Chr 13, 32913457: 32913457
265BRCA2NM_000059.3(BRCA2): c.5035delA (p.Thr1679Leufs)deletionPathogenicrs80359477GRCh37Chr 13, 32913527: 32913527
266BRCA2NM_000059.3(BRCA2): c.5042_5043delTG (p.Val1681Glufs)deletionPathogenicrs80359478GRCh37Chr 13, 32913534: 32913535
267BRCA2NM_000059.3(BRCA2): c.518delG (p.Gly173Valfs)deletionPathogenicrs80359492GRCh37Chr 13, 32900637: 32900637
268BRCA2NM_000059.3(BRCA2): c.5213_5216delCTTA (p.Thr1738Ilefs)deletionPathogenicrs80359493GRCh37Chr 13, 32913705: 32913708
269BRCA2NM_000059.3(BRCA2): c.5238dupT (p.Asn1747Terfs)duplicationPathogenicrs80359499GRCh37Chr 13, 32913730: 32913730
270BRCA2NM_000059.3(BRCA2): c.5266_5269delGTAT (p.Val1756Ilefs)deletionPathogenicrs80359501GRCh37Chr 13, 32913758: 32913761
271BRCA2NM_000059.3(BRCA2): c.5290_5291delTC (p.Ser1764Lysfs)deletionPathogenicrs80359503GRCh37Chr 13, 32913782: 32913783
272BRCA2NM_000059.3(BRCA2): c.5303_5304delTT (p.Leu1768Argfs)deletionPathogenicrs80359505GRCh37Chr 13, 32913795: 32913796
273BRCA2NM_000059.3(BRCA2): c.5350_5351delAA (p.Asn1784Hisfs)deletionPathogenicrs80359507GRCh37Chr 13, 32913842: 32913843
274BRCA2NM_000059.3(BRCA2): c.5351dupA (p.Asn1784Lysfs)duplicationPathogenicrs80359508GRCh37Chr 13, 32913843: 32913843
275BRCA2NM_000059.3(BRCA2): c.5351delA (p.Asn1784Thrfs)deletionPathogenicrs80359509GRCh37Chr 13, 32913843: 32913843
276BRCA2NM_000059.3(BRCA2): c.5410_5411delGT (p.Val1804Lysfs)deletionPathogenicrs80359512GRCh37Chr 13, 32913902: 32913903
277BRCA2NM_000059.3(BRCA2): c.5471dupA (p.Asn1824Lysfs)duplicationPathogenicrs80359515GRCh37Chr 13, 32913963: 32913963
278BRCA2NM_000059.3(BRCA2): c.5595_5596delAT (p.Phe1866Tyrfs)deletionPathogenicrs80359524GRCh37Chr 13, 32914087: 32914088
279BRCA2NM_000059.3(BRCA2): c.5614A> T (p.Lys1872Ter)single nucleotide variantPathogenicrs80358783GRCh37Chr 13, 32914106: 32914106
280BRCA2NM_000059.3(BRCA2): c.5621_5624delTTAA (p.Ile1874Argfs)deletionPathogenicrs80359526GRCh37Chr 13, 32914113: 32914116
281BRCA2NM_000059.3(BRCA2): c.5645C> A (p.Ser1882Ter)single nucleotide variantPathogenicrs80358785GRCh37Chr 13, 32914137: 32914137
282BRCA2NM_000059.3(BRCA2): c.5681dupA (p.Tyr1894Terfs)duplicationPathogenicrs80359527GRCh37Chr 13, 32914173: 32914173
283BRCA2NM_000059.3(BRCA2): c.574_575delAT (p.Met192Valfs)deletionPathogenicrs80359533GRCh37Chr 13, 32900693: 32900694
284BRCA2NM_000059.3(BRCA2): c.5828delC (p.Ser1943Leufs)deletionPathogenicrs80359541GRCh37Chr 13, 32914320: 32914320
285BRCA2NM_000059.3(BRCA2): c.582G> A (p.Trp194Ter)single nucleotide variantPathogenicrs80358810GRCh37Chr 13, 32900701: 32900701
286BRCA2NM_000059.3(BRCA2): c.5851_5854delAGTT (p.Ser1951Trpfs)deletionPathogenicrs80359544GRCh37Chr 13, 32914343: 32914346
287BRCA2NM_000059.3(BRCA2): c.5909C> A (p.Ser1970Ter)single nucleotide variantPathogenicrs80358824GRCh37Chr 13, 32914401: 32914401
288BRCA2NM_000059.3(BRCA2): c.5980C> T (p.Gln1994Ter)single nucleotide variantPathogenicrs80358831GRCh37Chr 13, 32914472: 32914472
289BRCA2NM_000059.3(BRCA2): c.6024dupG (p.Gln2009Alafs)duplicationPathogenicrs80359554GRCh37Chr 13, 32914516: 32914516
290BRCA2NM_000059.3(BRCA2): c.6037A> T (p.Lys2013Ter)single nucleotide variantPathogenicrs80358840GRCh37Chr 13, 32914529: 32914529
291BRCA2NM_000059.3(BRCA2): c.6206T> G (p.Leu2069Ter)single nucleotide variantPathogenicrs80358859GRCh37Chr 13, 32914698: 32914698
292BRCA2NM_000059.3(BRCA2): c.6267_6269delGCAinsC (p.Glu2089Aspfs)indelPathogenicrs276174868GRCh37Chr 13, 32914759: 32914761
293BRCA2NM_000059.3(BRCA2): c.631G> C (p.Val211Leu)single nucleotide variantPathogenicrs80358871GRCh37Chr 13, 32900750: 32900750
294BRCA2NM_000059.3(BRCA2): c.6373dupA (p.Thr2125Asnfs)duplicationPathogenicrs80359577GRCh37Chr 13, 32914865: 32914865
295BRCA2NM_000059.3(BRCA2): c.6434_6441delATAATCAC (p.Asn2145Ilefs)deletionPathogenicrs397507371GRCh37Chr 13, 32914926: 32914933
296BRCA2NM_000059.3(BRCA2): c.6444dupT (p.Ile2149Tyrfs)duplicationPathogenicrs80359590GRCh37Chr 13, 32914936: 32914936
297BRCA2NM_000059.3(BRCA2): c.6486_6489delACAA (p.Lys2162Asnfs)deletionPathogenicrs80359598GRCh37Chr 13, 32914978: 32914981
298BRCA2NM_000059.3(BRCA2): c.6535_6536insA (p.Val2179Aspfs)insertionPathogenicrs80359601GRCh37Chr 13, 32915027: 32915028
299BRCA2NM_000059.3(BRCA2): c.663T> G (p.Phe221Leu)single nucleotide variantPathogenicrs80358891GRCh37Chr 13, 32903611: 32903611
300BRCA2NM_000059.3(BRCA2): c.6641dupC (p.Tyr2215Leufs)duplicationPathogenicrs80359613GRCh37Chr 13, 32915133: 32915133
301BRCA2NM_000059.3(BRCA2): c.6644_6647delACTC (p.Tyr2215Serfs)deletionPathogenicrs80359616GRCh37Chr 13, 32915136: 32915139
302BRCA2NM_000059.3(BRCA2): c.6724_6725delGA (p.Asp2242Phefs)deletionPathogenicrs397507375GRCh37Chr 13, 32915216: 32915217
303BRCA2NM_000059.3(BRCA2): c.688A> T (p.Lys230Ter)single nucleotide variantPathogenicrs80358913GRCh37Chr 13, 32905062: 32905062
304BRCA2NM_000059.3(BRCA2): c.6941delC (p.Thr2314Lysfs)deletionPathogenicrs80359628GRCh37Chr 13, 32920967: 32920967
305BRCA2NM_000059.3(BRCA2): c.6944_6947delTAAA (p.Ile2315Lysfs)deletionPathogenicrs80359629GRCh37Chr 13, 32920970: 32920973
306BRCA2NM_000059.3(BRCA2): c.6952C> T (p.Arg2318Ter)single nucleotide variantPathogenicrs80358920GRCh37Chr 13, 32920978: 32920978
307BRCA2NM_000059.3(BRCA2): c.7069_7070delCT (p.Leu2357Valfs)deletionPathogenicrs80359636GRCh37Chr 13, 32929059: 32929060
308BRCA2NM_000059.3(BRCA2): c.7133C> G (p.Ser2378Ter)single nucleotide variantPathogenicrs276174889GRCh37Chr 13, 32929123: 32929123
309BRCA2NM_000059.3(BRCA2): c.7258G> T (p.Glu2420Ter)single nucleotide variantPathogenicrs397507385GRCh37Chr 13, 32929248: 32929248
310BRCA2NM_000059.3(BRCA2): c.7379_7382delACAA (p.Asn2460Thrfs)deletionPathogenicrs80359648GRCh37Chr 13, 32929369: 32929372
311BRCA2NM_000059.3(BRCA2): c.7412_7421delCAAAGTGTGA (p.Thr2471Lysfs)deletionPathogenicrs80359649GRCh37Chr 13, 32929402: 32929411
312BRCA2NM_000059.3(BRCA2): c.7414_7415delAA (p.Lys2472Valfs)deletionPathogenicrs80359650GRCh37Chr 13, 32929404: 32929405
313BRCA2NM_000059.3(BRCA2): c.7419_7420delTG (p.Cys2473Terfs)deletionPathogenicrs80359651GRCh37Chr 13, 32929409: 32929410
314BRCA2NM_000059.3(BRCA2): c.7480C> T (p.Arg2494Ter)single nucleotide variantPathogenicrs80358972GRCh37Chr 13, 32930609: 32930609
315BRCA2NM_000059.3(BRCA2): c.755_758delACAG (p.Asp252Valfs)deletionPathogenicrs80359659GRCh37Chr 13, 32905129: 32905132
316BRCA2NM_000059.3(BRCA2): c.7567_7568delCT (p.Leu2523Glufs)deletionPathogenicrs80359664GRCh37Chr 13, 32930696: 32930697
317BRCA2NM_000059.3(BRCA2): c.756_757delCA (p.Asp252Glufs)deletionPathogenicrs80359662GRCh37Chr 13, 32905130: 32905131
318BRCA2NM_000059.3(BRCA2): c.7618-1G> Asingle nucleotide variantPathogenicrs397507389GRCh37Chr 13, 32931878: 32931878
319BRCA2NM_000059.3(BRCA2): c.7673_7674delAG (p.Glu2558Valfs)deletionPathogenicrs80359672GRCh37Chr 13, 32931934: 32931935
320BRCA2NM_000059.3(BRCA2): c.7758G> A (p.Trp2586Ter)single nucleotide variantPathogenicrs80359004GRCh37Chr 13, 32932019: 32932019
321BRCA2NM_000059.3(BRCA2): c.778_779delGA (p.Glu260Serfs)deletionPathogenicrs80359680GRCh37Chr 13, 32905152: 32905153
322BRCA2NM_000059.3(BRCA2): c.7857G> A (p.Trp2619Ter)single nucleotide variantPathogenicrs80359011GRCh37Chr 13, 32936711: 32936711
323BRCA2NM_000059.3(BRCA2): c.7868A> G (p.His2623Arg)single nucleotide variantLikely pathogenicrs80359012GRCh37Chr 13, 32936722: 32936722
324BRCA2NM_000059.3(BRCA2): c.7878G> A (p.Trp2626Ter)single nucleotide variantPathogenicrs80359013GRCh37Chr 13, 32936732: 32936732
325BRCA2NM_000059.3(BRCA2): c.7913_7917delTTCCT (p.Phe2638Terfs)deletionPathogenicrs80359687GRCh37Chr 13, 32936767: 32936771
326BRCA2NM_000059.3(BRCA2): c.7963C> T (p.Gln2655Ter)single nucleotide variantPathogenicrs397507395GRCh37Chr 13, 32936817: 32936817
327BRCA2NM_000059.3(BRCA2): c.7974C> G (p.Tyr2658Ter)single nucleotide variantPathogenicrs80359025GRCh37Chr 13, 32936828: 32936828
328BRCA2NM_000059.3(BRCA2): c.7976G> A (p.Arg2659Lys)single nucleotide variantPathogenicrs80359027GRCh37Chr 13, 32936830: 32936830
329BRCA2NM_000059.3(BRCA2): c.8168A> G (p.Asp2723Gly)single nucleotide variantPathogenicrs41293513GRCh37Chr 13, 32937507: 32937507
330BRCA2NM_000059.3(BRCA2): c.8297delC (p.Thr2766Asnfs)deletionPathogenicrs80359705GRCh37Chr 13, 32937636: 32937636
331BRCA2NM_000059.3(BRCA2): c.8322dupT (p.Met2775Tyrfs)duplicationPathogenicrs80359706GRCh37Chr 13, 32937661: 32937661
332BRCA2NM_000059.3(BRCA2): c.8331+1G> Asingle nucleotide variantPathogenicrs81002837GRCh37Chr 13, 32937671: 32937671
333BRCA2NM_000059.3(BRCA2): c.8501delC (p.Thr2834Asnfs)deletionPathogenicrs80359712GRCh37Chr 13, 32945106: 32945106
334BRCA2NM_000059.3(BRCA2): c.8548_8551delGAAG (p.Glu2850Glnfs)deletionPathogenicrs397507406GRCh37Chr 13, 32945153: 32945156
335BRCA2NM_000059.3(BRCA2): c.8575delC (p.Gln2859Lysfs)deletionPathogenicrs80359718GRCh37Chr 13, 32945180: 32945180
336BRCA2NM_000059.3(BRCA2): c.8585dupT (p.Glu2863Argfs)duplicationPathogenicrs80359720GRCh37Chr 13, 32945190: 32945190
337BRCA2NM_000059.3(BRCA2): c.8633-2A> Gsingle nucleotide variantPathogenicrs81002886GRCh37Chr 13, 32950805: 32950805
338BRCA2NM_000059.3(BRCA2): c.8677C> T (p.Gln2893Ter)single nucleotide variantPathogenicrs397507409GRCh37Chr 13, 32950851: 32950851
339BRCA2NM_000059.3(BRCA2): c.8695C> T (p.Gln2899Ter)single nucleotide variantPathogenicrs397507411GRCh37Chr 13, 32950869: 32950869
340BRCA2NM_000059.3(BRCA2): c.8754+5G> Asingle nucleotide variantPathogenicrs81002813GRCh37Chr 13, 32950933: 32950933
341BRCA2NM_000059.3(BRCA2): c.8755-1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs81002812GRCh37Chr 13, 32953453: 32953453
342BRCA2NM_000059.3(BRCA2): c.8869C> T (p.Gln2957Ter)single nucleotide variantPathogenicrs276174913GRCh37Chr 13, 32953568: 32953568
343BRCA2NM_000059.3(BRCA2): c.8904delC (p.Val2969Cysfs)deletionPathogenicrs80359730GRCh37Chr 13, 32953603: 32953603
344BRCA2NM_000059.3(BRCA2): c.8951C> G (p.Ser2984Ter)single nucleotide variantPathogenicrs80359146GRCh37Chr 13, 32953650: 32953650
345BRCA2NM_000059.3(BRCA2): c.8953+1G> Tsingle nucleotide variantPathogenicrs81002882GRCh37Chr 13, 32953653: 32953653
346BRCA2NM_000059.3(BRCA2): c.9004G> A (p.Glu3002Lys)single nucleotide variantLikely pathogenic, Pathogenicrs80359152GRCh37Chr 13, 32953937: 32953937
347BRCA2NM_000059.3(BRCA2): c.9026_9030delATCAT (p.Tyr3009Serfs)deletionPathogenicrs80359741GRCh37Chr 13, 32953959: 32953963
348BRCA2NM_000059.3(BRCA2): c.9076C> T (p.Gln3026Ter)single nucleotide variantPathogenicrs80359159GRCh37Chr 13, 32954009: 32954009
349BRCA2NM_000059.3(BRCA2): c.9097dupA (p.Thr3033Asnfs)duplicationPathogenicrs397507419GRCh37Chr 13, 32954030: 32954031
350BRCA2NM_000059.3(BRCA2): c.9097delA (p.Thr3033Leufs)deletionPathogenicrs397507420GRCh37Chr 13, 32954030: 32954030
351BRCA2NM_000059.3(BRCA2): c.9117G> A (p.Pro3039=)single nucleotide variantLikely pathogenic, Pathogenicrs28897756GRCh37Chr 13, 32954050: 32954050
352BRCA2NM_000059.3(BRCA2): c.9253dupA (p.Thr3085Asnfs)duplicationPathogenicrs80359752GRCh37Chr 13, 32954279: 32954279
353BRCA2NM_000059.3(BRCA2): c.9294C> A (p.Tyr3098Ter)single nucleotide variantPathogenicrs80359200GRCh37Chr 13, 32968863: 32968863
354BRCA2NM_000059.3(BRCA2): c.9294C> G (p.Tyr3098Ter)single nucleotide variantPathogenicrs80359200GRCh37Chr 13, 32968863: 32968863
355BRCA2NM_000059.3(BRCA2): c.9371A> T (p.Asn3124Ile)single nucleotide variantPathogenicrs28897759GRCh37Chr 13, 32968940: 32968940
356BRCA2NM_000059.3(BRCA2): c.9380G> A (p.Trp3127Ter)single nucleotide variantPathogenicrs80359211GRCh37Chr 13, 32968949: 32968949
357BRCA2NM_000059.3(BRCA2): c.9401delG (p.Gly3134Alafs)deletionPathogenicrs80359759GRCh37Chr 13, 32968970: 32968970
358BRCA2NM_000059.3(BRCA2): c.9435_9436delGT (p.Ser3147Cysfs)deletionPathogenicrs80359763GRCh37Chr 13, 32969004: 32969005
359BRCA2NM_000059.3(BRCA2): c.9580_9581delCC (p.Pro3194Asnfs)deletionPathogenicrs80359771GRCh37Chr 13, 32971113: 32971114
360BRCA2NM_000059.3(BRCA2): c.9599C> G (p.Ser3200Ter)single nucleotide variantPathogenicrs80359230GRCh37Chr 13, 32971132: 32971132
361BRCA2NM_000059.3(BRCA2): c.9699_9702delTATG (p.Cys3233Trpfs)deletionLikely pathogenic, Pathogenicrs80359775GRCh37Chr 13, 32972349: 32972352
362BRCA2NM_000059.3(BRCA2): c.5482_5486delAAATT (p.Lys1828Valfs)deletionPathogenicrs80359516GRCh37Chr 13, 32913974: 32913978
363BRCA2NM_000059.3(BRCA2): c.100G> T (p.Glu34Ter)single nucleotide variantPathogenicrs80358391GRCh37Chr 13, 32893246: 32893246
364BRCA2NM_000059.3(BRCA2): c.1103C> A (p.Ser368Ter)single nucleotide variantPathogenicrs80358407GRCh37Chr 13, 32906718: 32906718
365BRCA2NM_000059.3(BRCA2): c.1128delT (p.Phe376Leufs)deletionPathogenicrs80359263GRCh37Chr 13, 32906743: 32906743
366BRCA2NM_000059.3(BRCA2): c.1138delA (p.Ser380Valfs)deletionPathogenicrs80359264GRCh37Chr 13, 32906753: 32906753
367BRCA2NM_000059.3(BRCA2): c.1147delA (p.Ile383Serfs)deletionPathogenicrs80359265GRCh37Chr 13, 32906762: 32906762
368BRCA2NM_000059.3(BRCA2): c.1153A> T (p.Lys385Ter)single nucleotide variantPathogenicrs80358411GRCh37Chr 13, 32906768: 32906768
369BRCA2NM_000059.3(BRCA2): c.1202C> G (p.Ser401Ter)single nucleotide variantPathogenicrs80358413GRCh37Chr 13, 32906817: 32906817
370BRCA2NM_000059.3(BRCA2): c.1219delC (p.Gln407Argfs)deletionPathogenicrs80359267GRCh37Chr 13, 32906834: 32906834
371BRCA2NM_000059.3(BRCA2): c.1225delG (p.Glu409Argfs)deletionPathogenicrs80359268GRCh37Chr 13, 32906840: 32906840
372BRCA2NM_000059.3(BRCA2): c.1233dupA (p.Pro412Thrfs)duplicationPathogenicrs80359270GRCh37Chr 13, 32906848: 32906849
373BRCA2NM_000059.3(BRCA2): c.1261C> T (p.Gln421Ter)single nucleotide variantPathogenicrs80358419GRCh37Chr 13, 32906876: 32906876
374BRCA2NM_000059.3(BRCA2): c.1278delA (p.Asp427Thrfs)deletionPathogenicrs80359274GRCh37Chr 13, 32906893: 32906893
375BRCA2NM_000059.3(BRCA2): c.128delA (p.Asn43Ilefs)deletionPathogenicrs80359275GRCh37Chr 13, 32893274: 32893274
376BRCA2NM_000059.3(BRCA2): c.1307delA (p.Lys436Argfs)deletionPathogenicrs80359278GRCh37Chr 13, 32906922: 32906922
377BRCA2NM_000059.3(BRCA2): c.1399A> T (p.Lys467Ter)single nucleotide variantPathogenicrs80358427GRCh37Chr 13, 32907014: 32907014
378BRCA2NM_000059.3(BRCA2): c.1411G> T (p.Glu471Ter)single nucleotide variantPathogenicrs80358428GRCh37Chr 13, 32907026: 32907026
379BRCA2NM_000059.3(BRCA2): c.1414C> T (p.Gln472Ter)single nucleotide variantPathogenicrs80358429GRCh37Chr 13, 32907029: 32907029
380BRCA2NM_000059.3(BRCA2): c.1456C> T (p.Gln486Ter)single nucleotide variantPathogenicrs80358434GRCh37Chr 13, 32907071: 32907071
381BRCA2NM_000059.3(BRCA2): c.145G> T (p.Glu49Ter)single nucleotide variantPathogenicrs80358435GRCh37Chr 13, 32893291: 32893291
382BRCA2NM_000059.3(BRCA2): c.1496_1497delAG (p.Gln499Argfs)deletionPathogenicrs80359285GRCh37Chr 13, 32907111: 32907112
383BRCA2NM_000059.3(BRCA2): c.1499delG (p.Gly500Valfs)deletionPathogenicrs397507591GRCh37Chr 13, 32907114: 32907114
384BRCA2NM_000059.3(BRCA2): c.1511_1512delCT (p.Ser504Tyrfs)deletionPathogenicrs80359286GRCh37Chr 13, 32907126: 32907127
385BRCA2NM_000059.3(BRCA2): c.151delG (p.Glu51Asnfs)deletionPathogenicrs80359287GRCh37Chr 13, 32893297: 32893297
386BRCA2NM_000059.3(BRCA2): c.1528G> T (p.Glu510Ter)single nucleotide variantPathogenicrs80358438GRCh37Chr 13, 32907143: 32907143
387BRCA2NM_000059.3(BRCA2): c.1547delT (p.Phe516Serfs)deletionPathogenicrs80359289GRCh37Chr 13, 32907162: 32907162
388BRCA2NM_000059.3(BRCA2): c.1595_1599delAAACT (p.Glu532Glyfs)deletionPathogenicrs80359291GRCh37Chr 13, 32907210: 32907214
389BRCA2NM_000059.3(BRCA2): c.1597delA (p.Thr533Leufs)deletionPathogenicrs80359292GRCh37Chr 13, 32907212: 32907212
390BRCA2NM_000059.3(BRCA2): c.1599_1600delTG (p.Glu534Serfs)deletionPathogenicrs80359293GRCh37Chr 13, 32907214: 32907215
391BRCA2NM_000059.3(BRCA2): c.1617delA (p.Leu540Trpfs)deletionPathogenicrs80359294GRCh37Chr 13, 32907232: 32907232
392BRCA2NM_000059.3(BRCA2): c.1631_1632delCT (p.Thr544Serfs)deletionPathogenicrs80359295GRCh37Chr 13, 32907246: 32907247
393BRCA2NM_000059.3(BRCA2): c.1654delT (p.Ser552Profs)deletionPathogenicrs80359297GRCh37Chr 13, 32907269: 32907269
394BRCA2NM_000059.3(BRCA2): c.1670T> G (p.Leu557Ter)single nucleotide variantPathogenicrs80358452GRCh37Chr 13, 32907285: 32907285
395BRCA2NM_000059.3(BRCA2): c.1681G> T (p.Gly561Ter)single nucleotide variantPathogenicrs80358455GRCh37Chr 13, 32907296: 32907296
396BRCA2NM_000059.3(BRCA2): c.1689G> A (p.Trp563Ter)single nucleotide variantPathogenicrs80358456GRCh37Chr 13, 32907304: 32907304
397BRCA2NM_000059.3(BRCA2): c.1705delC (p.Gln569Argfs)deletionPathogenicrs80359300GRCh37Chr 13, 32907320: 32907320
398BRCA2NM_000059.3(BRCA2): c.170dupA (p.Tyr57Terfs)duplicationPathogenicrs80359299GRCh37Chr 13, 32893316: 32893317
399BRCA2NM_000059.3(BRCA2): c.1754delA (p.Lys585Argfs)deletionPathogenicrs80359301GRCh37Chr 13, 32907369: 32907369
400BRCA2NM_000059.3(BRCA2): c.1763_1766delATAA (p.Asn588Serfs)deletionPathogenicrs80359303GRCh37Chr 13, 32907378: 32907381
401BRCA2NM_000059.3(BRCA2): c.1789G> T (p.Glu597Ter)single nucleotide variantPathogenicrs80358461GRCh37Chr 13, 32907404: 32907404
402BRCA2NM_000059.3(BRCA2): c.17_18delAA (p.Lys6Argfs)deletionPathogenicrs80359298GRCh37Chr 13, 32890614: 32890615
403BRCA2NM_000059.3(BRCA2): c.1800T> G (p.Tyr600Ter)single nucleotide variantPathogenicrs80358464GRCh37Chr 13, 32907415: 32907415
404BRCA2NM_000059.3(BRCA2): c.1815dupA (p.Pro606Thrfs)duplicationPathogenicrs80359310GRCh37Chr 13, 32907430: 32907431
405BRCA2NM_000059.3(BRCA2): c.1825C> T (p.Gln609Ter)single nucleotide variantPathogenicrs80358472GRCh37Chr 13, 32907440: 32907440
406BRCA2NM_000059.3(BRCA2): c.1831delT (p.Ser611Glnfs)deletionPathogenicrs80359311GRCh37Chr 13, 32907446: 32907446
407BRCA2NM_000059.3(BRCA2): c.1842dupT (p.Asn615Terfs)duplicationPathogenicrs80359312GRCh37Chr 13, 32907457: 32907458
408BRCA2NM_000059.3(BRCA2): c.1854delCinsAA (p.Gln619Thrfs)indelPathogenicrs276174815GRCh37Chr 13, 32907469: 32907469
409BRCA2NM_000059.3(BRCA2): c.1855C> T (p.Gln619Ter)single nucleotide variantPathogenicrs80358476GRCh37Chr 13, 32907470: 32907470
410BRCA2NM_000059.3(BRCA2): c.1888dupA (p.Thr630Asnfs)duplicationPathogenicrs80359314GRCh37Chr 13, 32907503: 32907504
411BRCA2NM_000059.3(BRCA2): c.1889delC (p.Thr630Asnfs)deletionPathogenicrs80359315GRCh37Chr 13, 32907504: 32907504
412BRCA2NM_000059.3(BRCA2): c.2026delT (p.Cys676Valfs)deletionPathogenicrs80359317GRCh37Chr 13, 32910518: 32910518
413BRCA2NM_000059.3(BRCA2): c.204delA (p.Lys68Asnfs)deletionPathogenicrs80359320GRCh37Chr 13, 32893350: 32893350
414BRCA2NM_000059.3(BRCA2): c.2064T> G (p.Tyr688Ter)single nucleotide variantPathogenicrs80358485GRCh37Chr 13, 32910556: 32910556
415BRCA2NM_000059.3(BRCA2): c.2084_2088delAGGAA (p.Glu696Thrfs)deletionPathogenicrs80359321GRCh37Chr 13, 32910576: 32910580
416BRCA2NM_000059.3(BRCA2): c.2094delA (p.Gln699Serfs)deletionPathogenicrs80359323GRCh37Chr 13, 32910586: 32910586
417BRCA2NM_000059.3(BRCA2): c.2103_2106delTATT (p.Phe701Leufs)deletionPathogenicrs80359324GRCh37Chr 13, 32910595: 32910598
418BRCA2NM_000059.3(BRCA2): c.2224C> T (p.Gln742Ter)single nucleotide variantPathogenicrs80358494GRCh37Chr 13, 32910716: 32910716
419BRCA2NM_000059.3(BRCA2): c.2254_2257delGACT (p.Asp752Phefs)deletionPathogenicrs80359326GRCh37Chr 13, 32910746: 32910749
420BRCA2NM_000059.3(BRCA2): c.227C> G (p.Ser76Ter)single nucleotide variantPathogenicrs80358498GRCh37Chr 13, 32893373: 32893373
421BRCA2NM_000059.3(BRCA2): c.2287delC (p.His763Metfs)deletionPathogenicrs80359327GRCh37Chr 13, 32910779: 32910779
422BRCA2NM_000059.3(BRCA2): c.22_23delAG (p.Arg8Alafs)deletionPathogenicrs397507623GRCh37Chr 13, 32890619: 32890620
423BRCA2NM_000059.3(BRCA2): c.2376C> A (p.Tyr792Ter)single nucleotide variantPathogenicrs80358503GRCh37Chr 13, 32910868: 32910868
424BRCA2NM_000059.3(BRCA2): c.2435delA (p.Asn812Ilefs)deletionPathogenicrs80359329GRCh37Chr 13, 32910927: 32910927
425BRCA2NM_000059.3(BRCA2): c.2446delG (p.Glu816Lysfs)deletionPathogenicrs80359330GRCh37Chr 13, 32910938: 32910938
426BRCA2NM_000059.3(BRCA2): c.2450delA (p.Lys817Argfs)deletionPathogenicrs80359331GRCh37Chr 13, 32910942: 32910942
427BRCA2NM_000059.3(BRCA2): c.2471_2476delTAAATG (p.Leu824Ter)deletionPathogenicrs276174823GRCh37Chr 13, 32910963: 32910968
428BRCA2NM_000059.3(BRCA2): c.250C> T (p.Gln84Ter)single nucleotide variantPathogenicrs80358515GRCh37Chr 13, 32893396: 32893396
429BRCA2NM_000059.3(BRCA2): c.2517C> A (p.Tyr839Ter)single nucleotide variantPathogenicrs80358516GRCh37Chr 13, 32911009: 32911009
430BRCA2NM_000059.3(BRCA2): c.2537C> G (p.Ser846Ter)single nucleotide variantPathogenicrs80358518GRCh37Chr 13, 32911029: 32911029
431BRCA2NM_000059.3(BRCA2): c.2545delG (p.Val849Tyrfs)deletionPathogenicrs80359333GRCh37Chr 13, 32911037: 32911037
432BRCA2NM_000059.3(BRCA2): c.2564_2565delCA (p.Thr855Lysfs)deletionPathogenicrs80359334GRCh37Chr 13, 32911056: 32911057
433BRCA2NM_000059.3(BRCA2): c.2586_2592delAAATCAA (p.Asn863Lysfs)deletionPathogenicrs80359337GRCh37Chr 13, 32911078: 32911084
434BRCA2NM_000059.3(BRCA2): c.2603delC (p.Thr868Ilefs)deletionPathogenicrs276174824GRCh37Chr 13, 32911095: 32911095
435BRCA2NM_000059.3(BRCA2): c.2612C> A (p.Ser871Ter)single nucleotide variantPathogenicrs397507634GRCh37Chr 13, 32911104: 32911104
436BRCA2NM_000059.3(BRCA2): c.262_263delCT (p.Leu88Alafs)deletionPathogenicrs276174825GRCh37Chr 13, 32893408: 32893409
437BRCA2NM_000059.3(BRCA2): c.2636_2637delCT (p.Ser879Terfs)deletionPathogenicrs276174826GRCh37Chr 13, 32911128: 32911129
438BRCA2NM_000059.3(BRCA2): c.263delT (p.Leu88Argfs)deletionPathogenicrs80359339GRCh37Chr 13, 32893409: 32893409
439BRCA2NM_000059.3(BRCA2): c.2653_2656delGACA (p.Asp885Metfs)deletionPathogenicrs80359340GRCh37Chr 13, 32911145: 32911148
440BRCA2NM_000059.3(BRCA2): c.266delC (p.Pro89Argfs)deletionPathogenicrs80359341GRCh37Chr 13, 32893412: 32893412
441BRCA2NM_000059.3(BRCA2): c.2684delC (p.Ala895Valfs)deletionPathogenicrs80359342GRCh37Chr 13, 32911176: 32911176
442BRCA2NM_000059.3(BRCA2): c.26delC (p.Pro9Glnfs)deletionPathogenicrs80359343GRCh37Chr 13, 32890623: 32890623
443BRCA2NM_000059.3(BRCA2): c.2731delG (p.Glu911Lysfs)deletionPathogenicrs80359344GRCh37Chr 13, 32911223: 32911223
444BRCA2NM_000059.3(BRCA2): c.2760delC (p.Ile921Phefs)deletionPathogenicrs80359346GRCh37Chr 13, 32911252: 32911252
445BRCA2NM_000059.3(BRCA2): c.276dupA (p.Ser93Ilefs)duplicationPathogenicrs80359345GRCh37Chr 13, 32893422: 32893423
446BRCA2NM_000059.3(BRCA2): c.2786dupT (p.Leu929Phefs)duplicationPathogenicrs80359347GRCh37Chr 13, 32911278: 32911279
447BRCA2NM_000059.3(BRCA2): c.2798_2799delCA (p.Thr933Argfs)deletionPathogenicrs80359348GRCh37Chr 13, 32911290: 32911291
448BRCA2NM_000059.3(BRCA2): c.2798delC (p.Thr933Lysfs)deletionPathogenicrs80359349GRCh37Chr 13, 32911290: 32911290
449BRCA2NM_000059.3(BRCA2): c.2805_2808delTAAA (p.Ala938Profs)deletionPathogenicrs80359350GRCh37Chr 13, 32911297: 32911300
450BRCA2NM_000059.3(BRCA2): c.2810_2811delAA (p.Gln937Argfs)deletionPathogenicrs80359353GRCh37Chr 13, 32911302: 32911303
451BRCA2NM_000059.3(BRCA2): c.2830A> T (p.Lys944Ter)single nucleotide variantPathogenicrs80358533GRCh37Chr 13, 32911322: 32911322
452BRCA2NM_000059.3(BRCA2): c.2836_2837delGA (p.Asp946Phefs)deletionPathogenicrs80359357GRCh37Chr 13, 32911328: 32911329
453BRCA2NM_000059.3(BRCA2): c.2836delG (p.Asp946Ilefs)deletionPathogenicrs80359358GRCh37Chr 13, 32911328: 32911328
454BRCA2NM_000059.3(BRCA2): c.2881C> T (p.Gln961Ter)single nucleotide variantPathogenicrs80358538GRCh37Chr 13, 32911373: 32911373
455BRCA2NM_000059.3(BRCA2): c.289G> T (p.Glu97Ter)single nucleotide variantPathogenicrs397507646GRCh37Chr 13, 32893435: 32893435
456BRCA2NM_000059.3(BRCA2): c.298A> T (p.Lys100Ter)single nucleotide variantPathogenicrs80358546GRCh37Chr 13, 32893444: 32893444
457BRCA2NM_000059.3(BRCA2): c.2T> G (p.Met1Arg)single nucleotide variantPathogenicrs80358547GRCh37Chr 13, 32890599: 32890599
458BRCA2NM_000059.3(BRCA2): c.3051delC (p.Lys1018Serfs)deletionPathogenicrs80359367GRCh37Chr 13, 32911543: 32911543
459BRCA2NM_000059.3(BRCA2): c.3068dupA (p.Asn1023Lysfs)duplicationPathogenicrs80359368GRCh37Chr 13, 32911560: 32911561
460BRCA2NM_000059.3(BRCA2): c.3076A> T (p.Lys1026Ter)single nucleotide variantPathogenicrs80358552GRCh37Chr 13, 32911568: 32911568
461BRCA2NM_000059.3(BRCA2): c.3103G> T (p.Glu1035Ter)single nucleotide variantPathogenicrs80358556GRCh37Chr 13, 32911595: 32911595
462BRCA2NM_000059.3(BRCA2): c.3146delA (p.Asn1049Ilefs)deletionPathogenicrs80359370GRCh37Chr 13, 32911638: 32911638
463BRCA2NM_000059.3(BRCA2): c.314T> G (p.Leu105Ter)single nucleotide variantPathogenicrs80358561GRCh37Chr 13, 32893460: 32893460
464BRCA2NM_000059.3(BRCA2): c.316+2T> Csingle nucleotide variantLikely pathogenic, Pathogenicrs81002805GRCh37Chr 13, 32893464: 32893464
465BRCA2NM_000059.3(BRCA2): c.3166C> T (p.Gln1056Ter)single nucleotide variantPathogenicrs79728106GRCh37Chr 13, 32911658: 32911658
466BRCA2NM_000059.3(BRCA2): c.3167_3170delAAAA (p.Gln1056Argfs)deletionPathogenicrs80359372GRCh37Chr 13, 32911659: 32911662
467BRCA2NM_000059.3(BRCA2): c.3189_3192delGTCA (p.Ser1064Leufs)deletionPathogenicrs80359374GRCh37Chr 13, 32911681: 32911684
468BRCA2NM_000059.3(BRCA2): c.3195_3198delTAAT (p.Asn1066Leufs)deletionPathogenicrs80359376GRCh37Chr 13, 32911687: 32911690
469BRCA2NM_000059.3(BRCA2): c.3199delA (p.Thr1067Leufs)deletionPathogenicrs80359377GRCh37Chr 13, 32911691: 32911691
470BRCA2NM_000059.3(BRCA2): c.3202delG (p.Val1068Tyrfs)deletionPathogenicrs397507658GRCh37Chr 13, 32911694: 32911694
471BRCA2NM_000059.3(BRCA2): c.3226_3230delGTAGT (p.Val1076Cysfs)deletionPathogenicrs397507659GRCh37Chr 13, 32911718: 32911722
472BRCA2NM_000059.3(BRCA2): c.3228_3229delAG (p.Val1077Cysfs)deletionPathogenicrs80359378GRCh37Chr 13, 32911720: 32911721
473BRCA2NM_000059.3(BRCA2): c.3262_3263delCC (p.Pro1088Serfs)deletionPathogenicrs80359379GRCh37Chr 13, 32911754: 32911755
474BRCA2NM_000059.3(BRCA2): c.3265C> T (p.Gln1089Ter)single nucleotide variantPathogenicrs80358573GRCh37Chr 13, 32911757: 32911757
475BRCA2NM_000059.3(BRCA2): c.3269delT (p.Met1090Serfs)deletionPathogenicrs80359381GRCh37Chr 13, 32911761: 32911761
476BRCA2NM_000059.3(BRCA2): c.3273_3276delATTT (p.Leu1091Phefs)deletionPathogenicrs80359382GRCh37Chr 13, 32911765: 32911768
477BRCA2NM_000059.3(BRCA2): c.3277delT (p.Ser1093Profs)deletionPathogenicrs276174833GRCh37Chr 13, 32911769: 32911769
478BRCA2NM_000059.3(BRCA2): c.3294delT (p.Ser1099Glnfs)deletionPathogenicrs80359383GRCh37Chr 13, 32911786: 32911786
479BRCA2NM_000059.3(BRCA2): c.3319C> T (p.Gln1107Ter)single nucleotide variantPathogenicrs80358578GRCh37Chr 13, 32911811: 32911811
480BRCA2NM_000059.3(BRCA2): c.3354delA (p.Glu1119Lysfs)deletionPathogenicrs80359384GRCh37Chr 13, 32911846: 32911846
481BRCA2NM_000059.3(BRCA2): c.3362C> G (p.Ser1121Ter)single nucleotide variantPathogenicrs80358579GRCh37Chr 13, 32911854: 32911854
482BRCA2NM_000059.3(BRCA2): c.3381delT (p.Phe1127Leufs)deletionPathogenicrs397507666GRCh37Chr 13, 32911873: 32911873
483BRCA2NM_000059.3(BRCA2): c.3455T> G (p.Leu1152Ter)single nucleotide variantPathogenicrs80358593GRCh37Chr 13, 32911947: 32911947
484BRCA2NM_000059.3(BRCA2): c.3469G> T (p.Glu1157Ter)single nucleotide variantPathogenicrs80358595GRCh37Chr 13, 32911961: 32911961
485BRCA2NM_000059.3(BRCA2): c.3500_3501delTA (p.Ile1167Asnfs)deletionPathogenicrs80359387GRCh37Chr 13, 32911992: 32911993
486BRCA2NM_000059.3(BRCA2): c.3554_3555delCA (p.Thr1185Serfs)deletionPathogenicrs80359389GRCh37Chr 13, 32912046: 32912047
487BRCA2NM_000059.3(BRCA2): c.3570delG (p.Lys1191Serfs)deletionPathogenicrs80359390GRCh37Chr 13, 32912062: 32912062
488BRCA2NM_000059.3(BRCA2): c.3599_3600delGT (p.Cys1200Terfs)deletionPathogenicrs80359392GRCh37Chr 13, 32912091: 32912092
489BRCA2NM_000059.3(BRCA2): c.3638delA (p.Val1214Trpfs)deletionPathogenicrs80359394GRCh37Chr 13, 32912130: 32912130
490BRCA2NM_000059.3(BRCA2): c.3680_3681delTG (p.Leu1227Glnfs)deletionPathogenicrs80359395GRCh37Chr 13, 32912172: 32912173
491BRCA2NM_000059.3(BRCA2): c.3682_3685delAATG (p.Asn1228Phefs)deletionPathogenicrs80359396GRCh37Chr 13, 32912174: 32912177
492BRCA2NM_000059.3(BRCA2): c.3685delG (p.Val1229Phefs)deletionPathogenicrs80359397GRCh37Chr 13, 32912177: 32912177
493BRCA2NM_000059.3(BRCA2): c.36delT (p.Phe12Leufs)deletionPathogenicrs80359399GRCh37Chr 13, 32890633: 32890633
494BRCA2NM_000059.3(BRCA2): c.36dupT (p.Glu13Terfs)duplicationPathogenicrs80359393GRCh37Chr 13, 32890633: 32890634
495BRCA2NM_000059.3(BRCA2): c.3737delA (p.Asn1246Ilefs)deletionPathogenicrs80359402GRCh37Chr 13, 32912229: 32912229
496BRCA2NM_000059.3(BRCA2): c.3748G> T (p.Glu1250Ter)single nucleotide variantPathogenicrs80358615GRCh37Chr 13, 32912240: 32912240
497BRCA2NM_000059.3(BRCA2): c.3785C> G (p.Ser1262Ter)single nucleotide variantPathogenicrs80358620GRCh37Chr 13, 32912277: 32912277
498BRCA2NM_000059.3(BRCA2): c.37G> T (p.Glu13Ter)single nucleotide variantPathogenicrs80358622GRCh37Chr 13, 32890634: 32890634
499BRCA2NM_000059.3(BRCA2): c.3812C> A (p.Ser1271Ter)single nucleotide variantPathogenicrs80358623GRCh37Chr 13, 32912304: 32912304
500BRCA2NM_000059.3(BRCA2): c.3837delT (p.Asn1279Lysfs)deletionPathogenicrs80359404GRCh37Chr 13, 32912329: 32912329
501BRCA2NM_000059.3(BRCA2): c.3859_3860delAA (p.Asn1287Terfs)deletionPathogenicrs80359408GRCh37Chr 13, 32912351: 32912352
502BRCA2NM_000059.3(BRCA2): c.3860_3863delATAA (p.Asn1287Ilefs)deletionPathogenicrs80359410GRCh37Chr 13, 32912352: 32912355
503BRCA2NM_000059.3(BRCA2): c.3860delA (p.Asn1287Ilefs)deletionPathogenicrs80359411GRCh37Chr 13, 32912352: 32912352
504BRCA2NM_000059.3(BRCA2): c.3860dupA (p.Asn1287Lysfs)duplicationPathogenicrs80359409GRCh37Chr 13, 32912352: 32912353
505BRCA2NM_000059.3(BRCA2): c.3871C> T (p.Gln1291Ter)single nucleotide variantPathogenicrs80358631GRCh37Chr 13, 32912363: 32912363
506BRCA2NM_000059.3(BRCA2): c.3881T> A (p.Leu1294Ter)single nucleotide variantPathogenicrs80358632GRCh37Chr 13, 32912373: 32912373
507BRCA2NM_000059.3(BRCA2): c.3911delC (p.Thr1304Ilefs)deletionPathogenicrs80359415GRCh37Chr 13, 32912403: 32912403
508BRCA2NM_000059.3(BRCA2): c.3919delG (p.Glu1307Lysfs)deletionPathogenicrs80359416GRCh37Chr 13, 32912411: 32912411
509BRCA2NM_000059.3(BRCA2): c.3939C> A (p.Tyr1313Ter)single nucleotide variantPathogenicrs80358641GRCh37Chr 13, 32912431: 32912431
510BRCA2NM_000059.3(BRCA2): c.3939delC (p.Tyr1313Terfs)deletionPathogenicrs276174838GRCh37Chr 13, 32912431: 32912431
511BRCA2NM_000059.3(BRCA2): c.3956_3959delATGA (p.Asn1319Lysfs)deletionPathogenicrs80359417GRCh37Chr 13, 32912448: 32912451
512BRCA2NM_000059.3(BRCA2): c.3958G> T (p.Glu1320Ter)single nucleotide variantPathogenicrs80358644GRCh37Chr 13, 32912450: 32912450
513BRCA2NM_000059.3(BRCA2): c.3967A> T (p.Lys1323Ter)single nucleotide variantPathogenicrs80358648GRCh37Chr 13, 32912459: 32912459
514BRCA2NM_000059.3(BRCA2): c.3975_3978dupTGCT (p.Ala1327Cysfs)duplicationPathogenicrs397515636GRCh37Chr 13, 32912467: 32912470
515BRCA2NM_000059.3(BRCA2): c.3G> A (p.Met1Ile)single nucleotide variantPathogenicrs80358650GRCh37Chr 13, 32890600: 32890600
516BRCA2NM_000059.3(BRCA2): c.4001T> A (p.Leu1334Ter)single nucleotide variantPathogenicrs80358652GRCh37Chr 13, 32912493: 32912493
517BRCA2NM_000059.3(BRCA2): c.4037_4038delCT (p.Thr1346Serfs)deletionPathogenicrs80359421GRCh37Chr 13, 32912529: 32912530
518BRCA2NM_000059.3(BRCA2): c.4048_4051delCATA (p.His1350Lysfs)deletionPathogenicrs80359423GRCh37Chr 13, 32912540: 32912543
519BRCA2NM_000059.3(BRCA2): c.4076delC (p.Thr1359Metfs)deletionPathogenicrs80359424GRCh37Chr 13, 32912568: 32912568
520BRCA2NM_000059.3(BRCA2): c.4095T> A (p.Cys1365Ter)single nucleotide variantPathogenicrs80358658GRCh37Chr 13, 32912587: 32912587
521BRCA2NM_000059.3(BRCA2): c.410delC (p.Ser137Phefs)deletionPathogenicrs80359427GRCh37Chr 13, 32899306: 32899306
522BRCA2NM_000059.3(BRCA2): c.4111C> T (p.Gln1371Ter)single nucleotide variantPathogenicrs80358659GRCh37Chr 13, 32912603: 32912603
523BRCA2NM_000059.3(BRCA2): c.4130delA (p.Asn1377Thrfs)deletionPathogenicrs80359428GRCh37Chr 13, 32912622: 32912622
524BRCA2NM_000059.3(BRCA2): c.4133_4136delCTCA (p.Thr1378Argfs)deletionPathogenicrs80359430GRCh37Chr 13, 32912625: 32912628
525BRCA2NM_000059.3(BRCA2): c.4137_4141delGATTA (p.Ile1380Argfs)deletionPathogenicrs80359431GRCh37Chr 13, 32912629: 32912633
526BRCA2NM_000059.3(BRCA2): c.4139_4140dupTT (p.Lys1381Leufs)duplicationPathogenicrs397507709GRCh37Chr 13, 32912632: 32912633
527BRCA2NM_000059.3(BRCA2): c.4169delT (p.Leu1390Trpfs)deletionPathogenicrs80359433GRCh37Chr 13, 32912661: 32912661
528BRCA2NM_000059.3(BRCA2): c.4188delA (p.Glu1397Lysfs)deletionPathogenicrs80359434GRCh37Chr 13, 32912680: 32912680
529BRCA2NM_000059.3(BRCA2): c.4218_4221delAGAA (p.Lys1406Asnfs)deletionPathogenicrs80359435GRCh37Chr 13, 32912710: 32912713
530BRCA2NM_000059.3(BRCA2): c.4258delG (p.Asp1420Ilefs)deletionPathogenicrs80359436GRCh37Chr 13, 32912750: 32912750
531BRCA2NM_000059.3(BRCA2): c.4271delC (p.Ser1424Leufs)deletionPathogenicrs80359437GRCh37Chr 13, 32912763: 32912763
532BRCA2NM_000059.3(BRCA2): c.4285C> T (p.Gln1429Ter)single nucleotide variantPathogenicrs80358665GRCh37Chr 13, 32912777: 32912777
533BRCA2NM_000059.3(BRCA2): c.4314delC (p.Ala1439Profs)deletionPathogenicrs80359441GRCh37Chr 13, 32912806: 32912806
534BRCA2NM_000059.3(BRCA2): c.4325C> A (p.Ser1442Ter)single nucleotide variantPathogenicrs80358670GRCh37Chr 13, 32912817: 32912817
535BRCA2NM_000059.3(BRCA2): c.4339delG (p.Val1447Terfs)deletionPathogenicrs80359443GRCh37Chr 13, 32912831: 32912831
536BRCA2NM_000059.3(BRCA2): c.4409_4410delTA (p.Ile1470Lysfs)deletionPathogenicrs80359446GRCh37Chr 13, 32912901: 32912902
537BRCA2NM_000059.3(BRCA2): c.4423delA (p.Met1475Trpfs)deletionPathogenicrs80359447GRCh37Chr 13, 32912915: 32912915
538BRCA2NM_000059.3(BRCA2): c.4456_4459delGTTA (p.Val1486Asnfs)deletionPathogenicrs80359450GRCh37Chr 13, 32912948: 32912951
539BRCA2NM_000059.3(BRCA2): c.4471_4474delCTGA (p.Leu1491Lysfs)deletionPathogenicrs80359451GRCh37Chr 13, 32912963: 32912966
540BRCA2NM_000059.3(BRCA2): c.4478_4481delAAAG (p.Glu1493Valfs)deletionPathogenicrs80359455GRCh37Chr 13, 32912970: 32912973
541BRCA2NM_000059.3(BRCA2): c.4525C> T (p.Gln1509Ter)single nucleotide variantPathogenicrs80358683GRCh37Chr 13, 32913017: 32913017
542BRCA2NM_000059.3(BRCA2): c.4546dupA (p.Ile1516Asnfs)duplicationPathogenicrs80359456GRCh37Chr 13, 32913038: 32913039
543BRCA2NM_000059.3(BRCA2): c.4551_4554delAGAA (p.Lys1517Asnfs)deletionPathogenicrs80359457GRCh37Chr 13, 32913043: 32913046
544BRCA2NM_000059.3(BRCA2): c.4554delA (p.Glu1518Aspfs)deletionPathogenicrs80359458GRCh37Chr 13, 32913046: 32913046
545BRCA2NM_000059.3(BRCA2): c.4588A> T (p.Lys1530Ter)single nucleotide variantPathogenicrs80358692GRCh37Chr 13, 32913080: 32913080
546BRCA2NM_000059.3(BRCA2): c.4593dupA (p.Val1532Serfs)duplicationPathogenicrs397507732GRCh37Chr 13, 32913085: 32913086
547BRCA2NM_000059.3(BRCA2): c.462_463delAA (p.Asp156Terfs)deletionPathogenicrs80359459GRCh37Chr 13, 32900274: 32900275
548BRCA2NM_000059.3(BRCA2): c.469_470delAA (p.Lys157Valfs)deletionPathogenicrs397507739GRCh37Chr 13, 32900281: 32900282
549BRCA2NM_000059.3(BRCA2): c.4708_4709delAG (p.Glu1571Glyfs)deletionPathogenicrs80359464GRCh37Chr 13, 32913200: 32913201
550BRCA2NM_000059.3(BRCA2): c.470_474delAGTCA (p.Lys157Serfs)deletionPathogenicrs80359463GRCh37Chr 13, 32900282: 32900286
551BRCA2NM_000059.3(BRCA2): c.4731_4736delATTAGCinsG (p.Leu1578Metfs)indelPathogenicrs276174846GRCh37Chr 13, 32913223: 32913228
552BRCA2NM_000059.3(BRCA2): c.4742_4743insTG (p.Glu1581Aspfs)insertionPathogenicrs276174847GRCh37Chr 13, 32913234: 32913235
553BRCA2NM_000059.3(BRCA2): c.475+1G> Asingle nucleotide variantPathogenicrs81002797GRCh37Chr 13, 32900288: 32900288
554BRCA2NM_000059.3(BRCA2): c.475+1G> Tsingle nucleotide variantPathogenicrs81002797GRCh37Chr 13, 32900288: 32900288
555BRCA2NM_000059.3(BRCA2): c.475G> A (p.Val159Met)single nucleotide variantPathogenicrs80358702GRCh37Chr 13, 32900287: 32900287
556BRCA2NM_000059.3(BRCA2): c.4797delT (p.Asn1599Lysfs)deletionPathogenicrs80359465GRCh37Chr 13, 32913289: 32913289
557BRCA2NM_000059.3(BRCA2): c.4808dupA (p.Asn1603Lysfs)duplicationPathogenicrs80359466GRCh37Chr 13, 32913300: 32913301
558BRCA2NM_000059.3(BRCA2): c.4829_4830delTG (p.Val1610Glyfs)deletionPathogenicrs80359468GRCh37Chr 13, 32913321: 32913322
559BRCA2NM_000059.3(BRCA2): c.4845_4846delCT (p.Leu1616Lysfs)deletionPathogenicrs80359469GRCh37Chr 13, 32913337: 32913338
560BRCA2NM_000059.3(BRCA2): c.4859T> G (p.Leu1620Ter)single nucleotide variantPathogenicrs80358710GRCh37Chr 13, 32913351: 32913351
561BRCA2NM_000059.3(BRCA2): c.4889C> G (p.Ser1630Ter)single nucleotide variantPathogenicrs80358711GRCh37Chr 13, 32913381: 32913381
562BRCA2NM_000059.3(BRCA2): c.491T> A (p.Leu164Ter)single nucleotide variantPathogenicrs80358717GRCh37Chr 13, 32900394: 32900394
563BRCA2NM_000059.3(BRCA2): c.4933A> T (p.Lys1645Ter)single nucleotide variantPathogenicrs80358719GRCh37Chr 13, 32913425: 32913425
564BRCA2NM_000059.3(BRCA2): c.4935delA (p.Glu1646Lysfs)deletionPathogenicrs80359472GRCh37Chr 13, 32913427: 32913427
565BRCA2NM_000059.3(BRCA2): c.4940_4941delCA (p.Thr1647Serfs)deletionPathogenicrs397507751GRCh37Chr 13, 32913432: 32913433
566BRCA2NM_000059.3(BRCA2): c.4947_4948delAA (p.Pro1651Cysfs)deletionPathogenicrs80359474GRCh37Chr 13, 32913439: 32913440
567BRCA2NM_000059.3(BRCA2): c.4965C> A (p.Tyr1655Ter)single nucleotide variantPathogenicrs80358721GRCh37Chr 13, 32913457: 32913457
568BRCA2NM_000059.3(BRCA2): c.5065_5066delGCinsAAA (p.Ala1689Lysfs)indelPathogenicrs276174852GRCh37Chr 13, 32913557: 32913558
569BRCA2NM_000059.3(BRCA2): c.5073delA (p.Lys1691Asnfs)deletionPathogenicrs80359481GRCh37Chr 13, 32913565: 32913565
570BRCA2NM_000059.3(BRCA2): c.5107G> T (p.Glu1703Ter)single nucleotide variantPathogenicrs80358735GRCh37Chr 13, 32913599: 32913599
571BRCA2NM_000059.3(BRCA2): c.5116_5119delAATA (p.Asn1706Leufs)deletionPathogenicrs276174853GRCh37Chr 13, 32913608: 32913611
572BRCA2NM_000059.3(BRCA2): c.5130_5133delTGTA (p.Tyr1710Terfs)deletionPathogenicrs80359485GRCh37Chr 13, 32913622: 32913625
573BRCA2NM_000059.3(BRCA2): c.5131_5134delGTAG (p.Val1711Glufs)deletionPathogenicrs80359486GRCh37Chr 13, 32913623: 32913626
574BRCA2NM_000059.3(BRCA2): c.5141_5144delATTT (p.Tyr1714Cysfs)deletionPathogenicrs80359487GRCh37Chr 13, 32913633: 32913636
575BRCA2NM_000059.3(BRCA2): c.5157_5161delTTCAA (p.Asn1719Lysfs)deletionPathogenicrs80359488GRCh37Chr 13, 32913649: 32913653
576BRCA2NM_000059.3(BRCA2): c.5158dupT (p.Ser1720Phefs)duplicationPathogenicrs80359489GRCh37Chr 13, 32913650: 32913651
577BRCA2NM_000059.3(BRCA2): c.5159C> G (p.Ser1720Ter)single nucleotide variantPathogenicrs80358740GRCh37Chr 13, 32913651: 32913651
578BRCA2NM_000059.3(BRCA2): c.5164_5165delAG (p.Ser1722Tyrfs)deletionPathogenicrs80359490GRCh37Chr 13, 32913656: 32913657
579BRCA2NM_000059.3(BRCA2): c.517-1G> Asingle nucleotide variantPathogenicrs81002849GRCh37Chr 13, 32900635: 32900635
580BRCA2NM_000059.3(BRCA2): c.517-2A> Gsingle nucleotide variantPathogenicrs81002858GRCh37Chr 13, 32900634: 32900634
581BRCA2NM_000059.3(BRCA2): c.5180delA (p.Asn1727Metfs)deletionPathogenicrs80359491GRCh37Chr 13, 32913672: 32913672
582BRCA2NM_000059.3(BRCA2): c.51_52delAC (p.Arg18Leufs)deletionPathogenicrs80359483GRCh37Chr 13, 32890648: 32890649
583BRCA2NM_000059.3(BRCA2): c.5217T> A (p.Tyr1739Ter)single nucleotide variantPathogenicrs80358746GRCh37Chr 13, 32913709: 32913709
584BRCA2NM_000059.3(BRCA2): c.5217_5220delTTTA (p.Tyr1739Terfs)deletionPathogenicrs80359494GRCh37Chr 13, 32913709: 32913712
585BRCA2NM_000059.3(BRCA2): c.5217_5221delTTTAA (p.Tyr1739Terfs)deletionPathogenicrs80359495GRCh37Chr 13, 32913709: 32913713
586BRCA2NM_000059.3(BRCA2): c.5217_5223delTTTAAGT (p.Tyr1739Terfs)deletionPathogenicrs80359496GRCh37Chr 13, 32913709: 32913715
587BRCA2NM_000059.3(BRCA2): c.5217_5224delTTTAAGTA (p.Tyr1739Terfs)deletionPathogenicrs80359497GRCh37Chr 13, 32913709: 32913716
588BRCA2NM_000059.3(BRCA2): c.5279C> G (p.Ser1760Ter)single nucleotide variantPathogenicrs80358751GRCh37Chr 13, 32913771: 32913771
589BRCA2NM_000059.3(BRCA2): c.5286T> A (p.Tyr1762Ter)single nucleotide variantPathogenicrs80358754GRCh37Chr 13, 32913778: 32913778
590BRCA2NM_000059.3(BRCA2): c.5344C> T (p.Gln1782Ter)single nucleotide variantPathogenicrs80358757GRCh37Chr 13, 32913836: 32913836
591BRCA2NM_000059.3(BRCA2): c.5344_5345delCA (p.Gln1782Lysfs)deletionPathogenicrs80359506GRCh37Chr 13, 32913836: 32913837
592BRCA2NM_000059.3(BRCA2): c.538_539delAT (p.Ile180Phefs)deletionPathogenicrs80359510GRCh37Chr 13, 32900657: 32900658
593BRCA2NM_000059.3(BRCA2): c.539delT (p.Ser181Leufs)deletionPathogenicrs276174857GRCh37Chr 13, 32900658: 32900658
594BRCA2NM_000059.3(BRCA2): c.5404C> T (p.Gln1802Ter)single nucleotide variantPathogenicrs80358763GRCh37Chr 13, 32913896: 32913896
595BRCA2NM_000059.3(BRCA2): c.5428G> A (p.Val1810Ile)single nucleotide variantPathogenicrs80358766GRCh37Chr 13, 32913920: 32913920
596BRCA2NM_000059.3(BRCA2): c.5434G> T (p.Glu1812Ter)single nucleotide variantPathogenicrs80358767GRCh37Chr 13, 32913926: 32913926
597BRCA2NM_000059.3(BRCA2): c.5454delA (p.Cys1820Alafs)deletionPathogenicrs80359513GRCh37Chr 13, 32913946: 32913946
598BRCA2NM_000059.3(BRCA2): c.5466dupT (p.Lys1823Terfs)duplicationPathogenicrs80359514GRCh37Chr 13, 32913958: 32913959
599BRCA2NM_000059.3(BRCA2): c.5526delT (p.Ala1843Hisfs)deletionPathogenicrs80359518GRCh37Chr 13, 32914018: 32914018
600BRCA2NM_000059.3(BRCA2): c.5542delA (p.Ser1848Valfs)deletionPathogenicrs80359519GRCh37Chr 13, 32914034: 32914034
601BRCA2NM_000059.3(BRCA2): c.5569G> T (p.Glu1857Ter)single nucleotide variantPathogenicrs80358778GRCh37Chr 13, 32914061: 32914061
602BRCA2NM_000059.3(BRCA2): c.5577_5580delTAAA (p.Lys1861Terfs)deletionPathogenicrs80359522GRCh37Chr 13, 32914069: 32914072
603BRCA2NM_000059.3(BRCA2): c.5585_5588delTGAA (p.Val1862Glufs)deletionPathogenicrs80359523GRCh37Chr 13, 32914077: 32914080
604BRCA2NM_000059.3(BRCA2): c.5609_5610delTCinsAG (p.Phe1870Ter)indelPathogenicrs276174859GRCh37Chr 13, 32914101: 32914102
605BRCA2NM_000059.3(BRCA2): c.5616_5620delAGTAA (p.Lys1872Asnfs)deletionPathogenicrs80359525GRCh37Chr 13, 32914108: 32914112
606BRCA2NM_000059.3(BRCA2): c.5626G> T (p.Glu1876Ter)single nucleotide variantPathogenicrs397507793GRCh37Chr 13, 32914118: 32914118
607BRCA2NM_000059.3(BRCA2): c.5641_5644delAAAT (p.Lys1881Glnfs)deletionPathogenicrs276174860GRCh37Chr 13, 32914133: 32914136
608BRCA2NM_000059.3(BRCA2): c.5656C> T (p.Gln1886Ter)single nucleotide variantPathogenicrs80358790GRCh37Chr 13, 32914148: 32914148
609BRCA2NM_000059.3(BRCA2): c.5702_5703delAG (p.Glu1901Glyfs)deletionPathogenicrs80359528GRCh37Chr 13, 32914194: 32914195
610BRCA2NM_000059.3(BRCA2): c.5717_5718delAC (p.Asn1906Ilefs)deletionPathogenicrs80359529GRCh37Chr 13, 32914209: 32914210
611BRCA2NM_000059.3(BRCA2): c.5718_5721delCTCT (p.Ser1907Terfs)deletionPathogenicrs276174862GRCh37Chr 13, 32914210: 32914213
612BRCA2NM_000059.3(BRCA2): c.5724delA (p.Asp1909Ilefs)deletionPathogenicrs80359532GRCh37Chr 13, 32914216: 32914216
613BRCA2NM_000059.3(BRCA2): c.5763dupT (p.Ala1922Cysfs)duplicationPathogenicrs80359534GRCh37Chr 13, 32914255: 32914256
614BRCA2NM_000059.3(BRCA2): c.5771_5774delTTCA (p.Ile1924Argfs)deletionPathogenicrs80359535GRCh37Chr 13, 32914263: 32914266
615BRCA2NM_000059.3(BRCA2): c.5773C> T (p.Gln1925Ter)single nucleotide variantPathogenicrs80358806GRCh37Chr 13, 32914265: 32914265
616BRCA2NM_000059.3(BRCA2): c.5778_5779delTG (p.Ser1926Argfs)deletionPathogenicrs80359536GRCh37Chr 13, 32914270: 32914271
617BRCA2NM_000059.3(BRCA2): c.5782G> A (p.Glu1928Lys)single nucleotide variantPathogenicrs56253082GRCh37Chr 13, 32914274: 32914274
618BRCA2NM_000059.3(BRCA2): c.5791C> T (p.Gln1931Ter)single nucleotide variantPathogenicrs80358807GRCh37Chr 13, 32914283: 32914283
619BRCA2NM_000059.3(BRCA2): c.5796_5797delTA (p.His1932Glnfs)deletionPathogenicrs80359537GRCh37Chr 13, 32914288: 32914289
620BRCA2NM_000059.3(BRCA2): c.581G> A (p.Trp194Ter)single nucleotide variantPathogenicrs80358809GRCh37Chr 13, 32900700: 32900700
621BRCA2NM_000059.3(BRCA2): c.5820_5833delGAAAGTTTCTAAAA (p.Glu1940Aspfs)deletionPathogenicrs80359539GRCh37Chr 13, 32914312: 32914325
622BRCA2NM_000059.3(BRCA2): c.5823delA (p.Val1942Phefs)deletionPathogenicrs80359540GRCh37Chr 13, 32914315: 32914315
623BRCA2NM_000059.3(BRCA2): c.5836_5837insA (p.Ser1946Tyrfs)insertionPathogenicrs80359542GRCh37Chr 13, 32914328: 32914329
624BRCA2NM_000059.3(BRCA2): c.5857G> T (p.Glu1953Ter)single nucleotide variantPathogenicrs80358814GRCh37Chr 13, 32914349: 32914349
625BRCA2NM_000059.3(BRCA2): c.5857delG (p.Glu1953Lysfs)deletionPathogenicrs80359545GRCh37Chr 13, 32914349: 32914349
626BRCA2NM_000059.3(BRCA2): c.5864C> A (p.Ser1955Ter)single nucleotide variantPathogenicrs80358815GRCh37Chr 13, 32914356: 32914356
627BRCA2NM_000059.3(BRCA2): c.5864C> G (p.Ser1955Ter)single nucleotide variantPathogenicrs80358815GRCh37Chr 13, 32914356: 32914356
628BRCA2NM_000059.3(BRCA2): c.5890delA (p.Lys1964Serfs)deletionPathogenicrs276174864GRCh37Chr 13, 32914382: 32914382
629BRCA2NM_000059.3(BRCA2): c.5904_5907delAGTC (p.Val1969Hisfs)deletionPathogenicrs80359547GRCh37Chr 13, 32914396: 32914399
630BRCA2NM_000059.3(BRCA2): c.5925T> A (p.Cys1975Ter)single nucleotide variantPathogenicrs80358825GRCh37Chr 13, 32914417: 32914417
631BRCA2NM_000059.3(BRCA2): c.5946_5949delTGGA (p.Ser1982Argfs)deletionPathogenicrs80359549GRCh37Chr 13, 32914438: 32914441
632BRCA2NM_000059.3(BRCA2): c.5959C> T (p.Gln1987Ter)single nucleotide variantPathogenicrs80358828GRCh37Chr 13, 32914451: 32914451
633BRCA2NM_000059.3(BRCA2): c.5967dupA (p.Asp1990Argfs)duplicationPathogenicrs276174865GRCh37Chr 13, 32914459: 32914460
634BRCA2NM_000059.3(BRCA2): c.5968_5969delGA (p.Asp1990Cysfs)deletionPathogenicrs80359552GRCh37Chr 13, 32914460: 32914461
635BRCA2NM_000059.3(BRCA2): c.6001delT (p.Ser2001Leufs)deletionPathogenicrs80359553GRCh37Chr 13, 32914493: 32914493
636BRCA2NM_000059.3(BRCA2): c.6025C> T (p.Gln2009Ter)single nucleotide variantPathogenicrs80358838GRCh37Chr 13, 32914517: 32914517
637BRCA2NM_000059.3(BRCA2): c.6065C> G (p.Ser2022Ter)single nucleotide variantPathogenicrs80358843GRCh37Chr 13, 32914557: 32914557
638BRCA2NM_000059.3(BRCA2): c.6068_6072delACCAG (p.Asp2023Alafs)deletionPathogenicrs80359555GRCh37Chr 13, 32914560: 32914564
639BRCA2NM_000059.3(BRCA2): c.6070C> T (p.Gln2024Ter)single nucleotide variantPathogenicrs80358844GRCh37Chr 13, 32914562: 32914562
640BRCA2NM_000059.3(BRCA2): c.6071delA (p.Gln2024Argfs)deletionPathogenicrs80359556GRCh37Chr 13, 32914563: 32914563
641BRCA2NM_000059.3(BRCA2): c.6078_6079delAA (p.Glu2028Argfs)deletionPathogenicrs80359557GRCh37Chr 13, 32914570: 32914571
642BRCA2NM_000059.3(BRCA2): c.6079dupA (p.Arg2027Lysfs)duplicationPathogenicrs397507826GRCh37Chr 13, 32914571: 32914572
643BRCA2NM_000059.3(BRCA2): c.6082_6086delGAAGA (p.Glu2028Lysfs)deletionPathogenicrs80359558GRCh37Chr 13, 32914574: 32914578
644BRCA2NM_000059.3(BRCA2): c.6103delA (p.Thr2035Leufs)deletionPathogenicrs80359559GRCh37Chr 13, 32914595: 32914595
645BRCA2NM_000059.3(BRCA2): c.610delC (p.Ser205Valfs)deletionPathogenicrs80359560GRCh37Chr 13, 32900729: 32900729
646BRCA2NM_000059.3(BRCA2): c.6124C> T (p.Gln2042Ter)single nucleotide variantPathogenicrs80358851GRCh37Chr 13, 32914616: 32914616
647BRCA2NM_000059.3(BRCA2): c.6129dupA (p.Gly2044Argfs)duplicationPathogenicrs80359561GRCh37Chr 13, 32914621: 32914622
648BRCA2NM_000059.3(BRCA2): c.6154delT (p.Ser2052Hisfs)deletionPathogenicrs80359562GRCh37Chr 13, 32914646: 32914646
649BRCA2NM_000059.3(BRCA2): c.6169G> T (p.Gly2057Ter)single nucleotide variantPathogenicrs80358856GRCh37Chr 13, 32914661: 32914661
650BRCA2NM_000059.3(BRCA2): c.6178delA (p.Thr2060Glnfs)deletionPathogenicrs80359563GRCh37Chr 13, 32914670: 32914670
651BRCA2NM_000059.3(BRCA2): c.6198_6199delTT (p.Ser2067Hisfs)deletionPathogenicrs80359564GRCh37Chr 13, 32914690: 32914691
652BRCA2NM_000059.3(BRCA2): c.6201delC (p.Ile2068Phefs)deletionPathogenicrs80359565GRCh37Chr 13, 32914693: 32914693
653BRCA2NM_000059.3(BRCA2): c.6202dupA (p.Ile2068Asnfs)duplicationPathogenicrs397507833GRCh37Chr 13, 32914694: 32914695
654BRCA2NM_000059.3(BRCA2): c.6209_6212delAAAG (p.Glu2070Valfs)deletionPathogenicrs276174866GRCh37Chr 13, 32914701: 32914704
655BRCA2NM_000059.3(BRCA2): c.6216delC (p.Leu2073Tyrfs)deletionPathogenicrs80359567GRCh37Chr 13, 32914708: 32914708
656BRCA2NM_000059.3(BRCA2): c.6220_6222delCACinsAA (p.His2074Lysfs)indelPathogenicrs276174867GRCh37Chr 13, 32914712: 32914714
657BRCA2NM_000059.3(BRCA2): c.6238delT (p.Leu2080Terfs)deletionPathogenicrs80359569GRCh37Chr 13, 32914730: 32914730
658BRCA2NM_000059.3(BRCA2): c.6239T> G (p.Leu2080Ter)single nucleotide variantPathogenicrs80358864GRCh37Chr 13, 32914731: 32914731
659BRCA2NM_000059.3(BRCA2): c.6240dupA (p.Glu2081Argfs)duplicationPathogenicrs80359570GRCh37Chr 13, 32914732: 32914733
660BRCA2NM_000059.3(BRCA2): c.6270_6271delTA (p.His2090Glnfs)deletionPathogenicrs80359571GRCh37Chr 13, 32914762: 32914763
661BRCA2NM_000059.3(BRCA2): c.6280_6286delTATTCAC (p.Tyr2094Leufs)deletionPathogenicrs80359572GRCh37Chr 13, 32914772: 32914778
662BRCA2NM_000059.3(BRCA2): c.6282_6289delTTCACCTA (p.Ser2095Valfs)deletionPathogenicrs80359573GRCh37Chr 13, 32914774: 32914781
663BRCA2NM_000059.3(BRCA2): c.6308C> A (p.Ser2103Ter)single nucleotide variantPathogenicrs80358870GRCh37Chr 13, 32914800: 32914800
664BRCA2NM_000059.3(BRCA2): c.631G> A (p.Val211Ile)single nucleotide variantPathogenicrs80358871GRCh37Chr 13, 32900750: 32900750
665BRCA2NM_000059.3(BRCA2): c.632-1G> Csingle nucleotide variantPathogenicrs81002820GRCh37Chr 13, 32903579: 32903579
666BRCA2NM_000059.3(BRCA2): c.6325_6326delGT (p.Val2109Terfs)deletionPathogenicrs276174871GRCh37Chr 13, 32914817: 32914818
667BRCA2NM_000059.3(BRCA2): c.6335_6336delGA (p.Arg2112Lysfs)deletionPathogenicrs80359574GRCh37Chr 13, 32914827: 32914828
668BRCA2NM_000059.3(BRCA2): c.634_635delAG (p.Arg212Lysfs)deletionPathogenicrs80359575GRCh37Chr 13, 32903582: 32903583
669BRCA2NM_000059.3(BRCA2): c.6352_6353delGT (p.Val2118Lysfs)deletionPathogenicrs80359576GRCh37Chr 13, 32914844: 32914845
670BRCA2NM_000059.3(BRCA2): c.6373delA (p.Thr2125Profs)deletionPathogenicrs80359578GRCh37Chr 13, 32914865: 32914865
671BRCA2NM_000059.3(BRCA2): c.6382A> T (p.Lys2128Ter)single nucleotide variantPathogenicrs80358875GRCh37Chr 13, 32914874: 32914874
672BRCA2NM_000059.3(BRCA2): c.63delA (p.Ala22Glnfs)deletionPathogenicrs80359582GRCh37Chr 13, 32890660: 32890660
673BRCA2NM_000059.3(BRCA2): c.6401_6404delATAA (p.Asn2134Thrfs)deletionPathogenicrs80359583GRCh37Chr 13, 32914893: 32914896
674BRCA2NM_000059.3(BRCA2): c.6407_6411delTAAAT (p.Leu2136Cysfs)deletionPathogenicrs80359586GRCh37Chr 13, 32914899: 32914903
675BRCA2NM_000059.3(BRCA2): c.6431delA (p.Asn2145Ilefs)deletionPathogenicrs80359587GRCh37Chr 13, 32914923: 32914923
676BRCA2NM_000059.3(BRCA2): c.6443_6444delCT (p.Ser2148Tyrfs)deletionPathogenicrs80359589GRCh37Chr 13, 32914935: 32914936
677BRCA2NM_000059.3(BRCA2): c.6444_6447delTATT (p.Ile2149Lysfs)deletionPathogenicrs80359591GRCh37Chr 13, 32914936: 32914939
678BRCA2NM_000059.3(BRCA2): c.6445_6446delAT (p.Ile2149Terfs)deletionPathogenicrs80359592GRCh37Chr 13, 32914937: 32914938
679BRCA2NM_000059.3(BRCA2): c.6449_6450delAA (p.Lys2150Serfs)deletionPathogenicrs80359594GRCh37Chr 13, 32914941: 32914942
680BRCA2NM_000059.3(BRCA2): c.6450dupA (p.Val2151Serfs)duplicationPathogenicrs80359595GRCh37Chr 13, 32914942: 32914943
681BRCA2NM_000059.3(BRCA2): c.6462T> G (p.Tyr2154Ter)single nucleotide variantPathogenicrs80358883GRCh37Chr 13, 32914954: 32914954
682BRCA2NM_000059.3(BRCA2): c.6490delC (p.Gln2164Serfs)deletionPathogenicrs80359599GRCh37Chr 13, 32914982: 32914982
683BRCA2NM_000059.3(BRCA2): c.6494delT (p.Leu2165Trpfs)deletionPathogenicrs276174874GRCh37Chr 13, 32914986: 32914986
684BRCA2NM_000059.3(BRCA2): c.6509_6510delAA (p.Lys2170Serfs)deletionPathogenicrs80359600GRCh37Chr 13, 32915001: 32915002
685BRCA2NM_000059.3(BRCA2): c.652G> T (p.Glu218Ter)single nucleotide variantPathogenicrs80358884GRCh37Chr 13, 32903600: 32903600
686BRCA2NM_000059.3(BRCA2): c.6547G> T (p.Glu2183Ter)single nucleotide variantPathogenicrs397507866GRCh37Chr 13, 32915039: 32915039
687BRCA2NM_000059.3(BRCA2): c.6553delG (p.Ala2185Leufs)deletionPathogenicrs80359603GRCh37Chr 13, 32915045: 32915045
688BRCA2NM_000059.3(BRCA2): c.6600_6601delTT (p.Ser2201Terfs)deletionPathogenicrs80359607GRCh37Chr 13, 32915092: 32915093
689BRCA2NM_000059.3(BRCA2): c.6603_6604delTG (p.Asp2202Cysfs)deletionPathogenicrs80359608GRCh37Chr 13, 32915095: 32915096
690BRCA2NM_000059.3(BRCA2): c.6626_6627delTA (p.Ile2209Argfs)deletionPathogenicrs80359610GRCh37Chr 13, 32915118: 32915119
691BRCA2NM_000059.3(BRCA2): c.6629_6630delAA (p.Glu2210Glyfs)deletionPathogenicrs80359611GRCh37Chr 13, 32915121: 32915122
692BRCA2NM_000059.3(BRCA2): c.662_663delTT (p.Phe221Serfs)deletionPathogenicrs80359609GRCh37Chr 13, 32903610: 32903611
693BRCA2NM_000059.3(BRCA2): c.6634_6637delTGTT (p.Cys2212Leufs)deletionPathogenicrs397507871GRCh37Chr 13, 32915126: 32915129
694BRCA2NM_000059.3(BRCA2): c.6638delC (p.Ser2213Leufs)deletionPathogenicrs80359612GRCh37Chr 13, 32915130: 32915130
695BRCA2NM_000059.3(BRCA2): c.6643delT (p.Tyr2215Thrfs)deletionPathogenicrs80359614GRCh37Chr 13, 32915135: 32915135
696BRCA2NM_000059.3(BRCA2): c.6644dupA (p.Tyr2215Terfs)duplicationPathogenicrs80359615GRCh37Chr 13, 32915136: 32915137
697BRCA2NM_000059.3(BRCA2): c.6656C> G (p.Ser2219Ter)single nucleotide variantPathogenicrs80358893GRCh37Chr 13, 32915148: 32915148
698BRCA2NM_000059.3(BRCA2): c.6658_6661delGAAA (p.Glu2220Thrfs)deletionPathogenicrs80359617GRCh37Chr 13, 32915150: 32915153
699BRCA2NM_000059.3(BRCA2): c.6673delA (p.Thr2225Glnfs)deletionPathogenicrs276174875GRCh37Chr 13, 32915165: 32915165
700BRCA2NM_000059.3(BRCA2): c.6676_6677delGA (p.Glu2226Serfs)deletionPathogenicrs80359619GRCh37Chr 13, 32915168: 32915169
701BRCA2NM_000059.3(BRCA2): c.6678delA (p.Ala2227Glnfs)deletionPathogenicrs80359620GRCh37Chr 13, 32915170: 32915170
702BRCA2NM_000059.3(BRCA2): c.6682dupG (p.Val2228Glyfs)duplicationPathogenicrs80359621GRCh37Chr 13, 32915174: 32915175
703BRCA2NM_000059.3(BRCA2): c.67+1G> Asingle nucleotide variantPathogenicrs81002796GRCh37Chr 13, 32890665: 32890665
704BRCA2NM_000059.3(BRCA2): c.67+1G> Tsingle nucleotide variantPathogenicrs81002796GRCh37Chr 13, 32890665: 32890665
705BRCA2NM_000059.3(BRCA2): c.67+2T> Asingle nucleotide variantPathogenicrs81002885GRCh37Chr 13, 32890666: 32890666
706BRCA2NM_000059.3(BRCA2): c.67+2T> Csingle nucleotide variantPathogenicrs81002885GRCh37Chr 13, 32890666: 32890666
707BRCA2NM_000059.3(BRCA2): c.6715G> T (p.Glu2239Ter)single nucleotide variantPathogenicrs276174876GRCh37Chr 13, 32915207: 32915207
708BRCA2NM_000059.3(BRCA2): c.6743_6755delATGCCACACATTC (p.His2248Leufs)deletionPathogenicrs80359622GRCh37Chr 13, 32915235: 32915247
709BRCA2NM_000059.3(BRCA2): c.6754dupT (p.Ser2252Phefs)duplicationPathogenicrs180670511GRCh37Chr 13, 32915246: 32915247
710BRCA2NM_000059.3(BRCA2): c.6757_6758delCT (p.Leu2253Phefs)deletionPathogenicrs80359623GRCh37Chr 13, 32915249: 32915250
711BRCA2NM_000059.3(BRCA2): c.6761_6762delTT (p.Phe2254Tyrfs)deletionPathogenicrs80359624GRCh37Chr 13, 32915253: 32915254
712BRCA2NM_000059.3(BRCA2): c.6768T> A (p.Cys2256Ter)single nucleotide variantPathogenicrs80358901GRCh37Chr 13, 32915260: 32915260
713BRCA2NM_000059.3(BRCA2): c.6809delG (p.Gly2270Glufs)deletionPathogenicrs80359625GRCh37Chr 13, 32915301: 32915301
714BRCA2NM_000059.3(BRCA2): c.682-1G> Csingle nucleotide variantPathogenicrs81002831GRCh37Chr 13, 32905055: 32905055
715BRCA2NM_000059.3(BRCA2): c.6833_6837delTCTTA (p.Ile2278Serfs)deletionPathogenicrs80359627GRCh37Chr 13, 32915325: 32915329
716BRCA2NM_000059.3(BRCA2): c.6938-2A> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs81002863GRCh37Chr 13, 32920962: 32920962
717BRCA2NM_000059.3(BRCA2): c.696delT (p.Ser234Profs)deletionPathogenicrs80359630GRCh37Chr 13, 32905070: 32905070
718BRCA2NM_000059.3(BRCA2): c.6990_6994delTACCT (p.Ile2330Metfs)deletionPathogenicrs80359631GRCh37Chr 13, 32921016: 32921020
719BRCA2NM_000059.3(BRCA2): c.7003_7007delTTTCG (p.Phe2335Hisfs)deletionPathogenicrs80359632GRCh37Chr 13, 32921029: 32921033
720BRCA2NM_000059.3(BRCA2): c.7007G> C (p.Arg2336Pro)single nucleotide variantPathogenicrs28897743GRCh37Chr 13, 32921033: 32921033
721BRCA2NM_000059.3(BRCA2): c.7007G> T (p.Arg2336Leu)single nucleotide variantPathogenicrs28897743GRCh37Chr 13, 32921033: 32921033
722BRCA2NM_000059.3(BRCA2): c.7008-2A> Gsingle nucleotide variantPathogenicrs81002823GRCh37Chr 13, 32928996: 32928996
723BRCA2NM_000059.3(BRCA2): c.7008-2A> Tsingle nucleotide variantPathogenicrs81002823GRCh37Chr 13, 32928996: 32928996
724BRCA2NM_000059.3(BRCA2): c.7024C> T (p.Gln2342Ter)single nucleotide variantPathogenicrs80358928GRCh37Chr 13, 32929014: 32929014
725BRCA2NM_000059.3(BRCA2): c.7025_7026delAA (p.Gln2342Argfs)deletionPathogenicrs80359634GRCh37Chr 13, 32929015: 32929016
726BRCA2NM_000059.3(BRCA2): c.7032dupA (p.Gln2345Thrfs)duplicationPathogenicrs80359635GRCh37Chr 13, 32929022: 32929023
727BRCA2NM_000059.3(BRCA2): c.7060C> T (p.Gln2354Ter)single nucleotide variantPathogenicrs80358936GRCh37Chr 13, 32929050: 32929050
728BRCA2NM_000059.3(BRCA2): c.7108_7109delAA (p.Lys2370Ilefs)deletionPathogenicrs80359638GRCh37Chr 13, 32929098: 32929099
729BRCA2NM_000059.3(BRCA2): c.7110delA (p.Lys2370Asnfs)deletionPathogenicrs397507897GRCh37Chr 13, 32929100: 32929100
730BRCA2NM_000059.3(BRCA2): c.7115C> G (p.Ser2372Ter)single nucleotide variantPathogenicrs80358943GRCh37Chr 13, 32929105: 32929105
731BRCA2NM_000059.3(BRCA2): c.7151_7152delAA (p.Gln2384Argfs)deletionPathogenicrs276174890GRCh37Chr 13, 32929141: 32929142
732BRCA2NM_000059.3(BRCA2): c.7156dupT (p.Ser2386Phefs)duplicationPathogenicrs80359639GRCh37Chr 13, 32929146: 32929147
733BRCA2NM_000059.3(BRCA2): c.7180A> T (p.Arg2394Ter)single nucleotide variantPathogenicrs80358946GRCh37Chr 13, 32929170: 32929170
734BRCA2NM_000059.3(BRCA2): c.7208_7211delCCAA (p.Thr2403Lysfs)deletionPathogenicrs80359641GRCh37Chr 13, 32929198: 32929201
735BRCA2NM_000059.3(BRCA2): c.7211_7212delAA (p.Lys2404Serfs)deletionPathogenicrs80359642GRCh37Chr 13, 32929201: 32929202
736BRCA2NM_000059.3(BRCA2): c.7226delC (p.Pro2409Leufs)deletionPathogenicrs80359643GRCh37Chr 13, 32929216: 32929216
737BRCA2NM_000059.3(BRCA2): c.7241C> G (p.Ser2414Ter)single nucleotide variantPathogenicrs80358951GRCh37Chr 13, 32929231: 32929231
738BRCA2NM_000059.3(BRCA2): c.7254_7255delAG (p.Arg2418Serfs)deletionPathogenicrs80359644GRCh37Chr 13, 32929244: 32929245
739BRCA2NM_000059.3(BRCA2): c.729_732delTGAT (p.Asn243Lysfs)deletionPathogenicrs80359645GRCh37Chr 13, 32905103: 32905106
740BRCA2NM_000059.3(BRCA2): c.733A> T (p.Arg245Ter)single nucleotide variantPathogenicrs80358959GRCh37Chr 13, 32905107: 32905107
741BRCA2NM_000059.3(BRCA2): c.7360delA (p.Ile2454Phefs)deletionPathogenicrs80359646GRCh37Chr 13, 32929350: 32929350
742BRCA2NM_000059.3(BRCA2): c.7443delT (p.Thr2482Glnfs)deletionPathogenicrs80359652GRCh37Chr 13, 32930572: 32930572
743BRCA2NM_000059.3(BRCA2): c.7474_7475delGA (p.Asp2492Tyrfs)deletionPathogenicrs80359653GRCh37Chr 13, 32930603: 32930604
744BRCA2NM_000059.3(BRCA2): c.748delG (p.Val250Terfs)deletionPathogenicrs80359654GRCh37Chr 13, 32905122: 32905122
745BRCA2NM_000059.3(BRCA2): c.7543delA (p.Thr2515Hisfs)deletionPathogenicrs80359658GRCh37Chr 13, 32930672: 32930672
746BRCA2NM_000059.3(BRCA2): c.7558C> T (p.Arg2520Ter)single nucleotide variantPathogenicrs80358981GRCh37Chr 13, 32930687: 32930687
747BRCA2NM_000059.3(BRCA2): c.755delA (p.Asp252Alafs)deletionPathogenicrs80359661GRCh37Chr 13, 32905129: 32905129
748BRCA2NM_000059.3(BRCA2): c.756_759delCAGT (p.Asp252Glufs)deletionPathogenicrs80359663GRCh37Chr 13, 32905130: 32905133
749BRCA2NM_000059.3(BRCA2): c.7593delT (p.Ser2533Leufs)deletionPathogenicrs80359665GRCh37Chr 13, 32930722: 32930722
750BRCA2NM_000059.3(BRCA2): c.7617+2T> Gsingle nucleotide variantPathogenicrs81002843GRCh37Chr 13, 32930748: 32930748
751BRCA2NM_000059.3(BRCA2): c.7647C> A (p.Cys2549Ter)single nucleotide variantPathogenicrs80358993GRCh37Chr 13, 32931908: 32931908
752BRCA2NM_000059.3(BRCA2): c.7655_7658delTTAA (p.Ile2552Thrfs)deletionPathogenicrs80359669GRCh37Chr 13, 32931916: 32931919
753BRCA2NM_000059.3(BRCA2): c.7679_7680delTT (p.Phe2560Serfs)deletionPathogenicrs80359673GRCh37Chr 13, 32931940: 32931941
754BRCA2NM_000059.3(BRCA2): c.767_768delCA (p.Thr256Lysfs)deletionPathogenicrs80359670GRCh37Chr 13, 32905141: 32905142
755BRCA2NM_000059.3(BRCA2): c.7680dupT (p.Gln2561Serfs)duplicationPathogenicrs397507932GRCh37Chr 13, 32931941: 32931942
756BRCA2NM_000059.3(BRCA2): c.7681C> T (p.Gln2561Ter)single nucleotide variantPathogenicrs80358994GRCh37Chr 13, 32931942: 32931942
757BRCA2NM_000059.3(BRCA2): c.7689delC (p.His2563Glnfs)deletionPathogenicrs80359674GRCh37Chr 13, 32931950: 32931950
758BRCA2NM_000059.3(BRCA2): c.7721G> A (p.Trp2574Ter)single nucleotide variantPathogenicrs80358997GRCh37Chr 13, 32931982: 32931982
759BRCA2NM_000059.3(BRCA2): c.7738C> T (p.Gln2580Ter)single nucleotide variantPathogenicrs80358999GRCh37Chr 13, 32931999: 32931999
760BRCA2NM_000059.3(BRCA2): c.7757G> A (p.Trp2586Ter)single nucleotide variantPathogenicrs80359003GRCh37Chr 13, 32932018: 32932018
761BRCA2NM_000059.3(BRCA2): c.7761delC (p.Ile2588Tyrfs)deletionPathogenicrs80359678GRCh37Chr 13, 32932022: 32932022
762BRCA2NM_000059.3(BRCA2): c.7805+1G> Asingle nucleotide variantPathogenicrs81002809GRCh37Chr 13, 32932067: 32932067
763BRCA2NM_000059.3(BRCA2): c.7806-1G> Tsingle nucleotide variantPathogenicrs81002860GRCh37Chr 13, 32936659: 32936659
764BRCA2NM_000059.3(BRCA2): c.7806-2A> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs81002836GRCh37Chr 13, 32936658: 32936658
765BRCA2NM_000059.3(BRCA2): c.7806_7807insAG (p.Ala2603Argfs)insertionPathogenicrs80359683GRCh37Chr 13, 32936660: 32936661
766BRCA2NM_000059.3(BRCA2): c.7847delC (p.Ser2616Leufs)deletionPathogenicrs80359685GRCh37Chr 13, 32936701: 32936701
767BRCA2NM_000059.3(BRCA2): c.7863T> A (p.Tyr2621Ter)single nucleotide variantPathogenicrs276174896GRCh37Chr 13, 32936717: 32936717
768BRCA2NM_000059.3(BRCA2): c.7879A> T (p.Ile2627Phe)single nucleotide variantPathogenicrs80359014GRCh37Chr 13, 32936733: 32936733
769BRCA2NM_000059.3(BRCA2): c.7886G> A (p.Trp2629Ter)single nucleotide variantPathogenicrs80359015GRCh37Chr 13, 32936740: 32936740
770BRCA2NM_000059.3(BRCA2): c.7908T> A (p.Cys2636Ter)single nucleotide variantPathogenicrs80359016GRCh37Chr 13, 32936762: 32936762
771BRCA2NM_000059.3(BRCA2): c.793+1G> Asingle nucleotide variantPathogenicrs81002846GRCh37Chr 13, 32905168: 32905168
772BRCA2NM_000059.3(BRCA2): c.793+1G> Tsingle nucleotide variantPathogenicrs81002846GRCh37Chr 13, 32905168: 32905168
773BRCA2NM_000059.3(BRCA2): c.7934delG (p.Arg2645Asnfs)deletionPathogenicrs80359688GRCh37Chr 13, 32936788: 32936788
774BRCA2NM_000059.3(BRCA2): c.7954delG (p.Val2652Cysfs)deletionPathogenicrs80359689GRCh37Chr 13, 32936808: 32936808
775BRCA2NM_000059.3(BRCA2): c.7976+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs81002873GRCh37Chr 13, 32936831: 32936831
776BRCA2NM_000059.3(BRCA2): c.7978T> G (p.Tyr2660Asp)single nucleotide variantLikely pathogenicrs80359029GRCh37Chr 13, 32937317: 32937317
777BRCA2NM_000059.3(BRCA2): c.7988A> T (p.Glu2663Val)single nucleotide variantPathogenicrs80359031GRCh37Chr 13, 32937327: 32937327
778BRCA2NM_000059.3(BRCA2): c.7996A> T (p.Arg2666Ter)single nucleotide variantPathogenicrs80359032GRCh37Chr 13, 32937335: 32937335
779BRCA2NM_000059.3(BRCA2): c.8002A> T (p.Arg2668Ter)single nucleotide variantPathogenicrs276174900GRCh37Chr 13, 32937341: 32937341
780BRCA2NM_000059.3(BRCA2): c.8009C> T (p.Ser2670Leu)single nucleotide variantLikely pathogenicrs80359035GRCh37Chr 13, 32937348: 32937348
781BRCA2NM_000059.3(BRCA2): c.8029delG (p.Glu2677Lysfs)deletionPathogenicrs80359691GRCh37Chr 13, 32937368: 32937368
782BRCA2NM_000059.3(BRCA2): c.8042_8043delCA (p.Thr2681Serfs)deletionPathogenicrs276174901GRCh37Chr 13, 32937381: 32937382
783BRCA2NM_000059.3(BRCA2): c.8058delT (p.Val2687Phefs)deletionPathogenicrs80359692GRCh37Chr 13, 32937397: 32937397
784BRCA2NM_000059.3(BRCA2): c.8067T> A (p.Cys2689Ter)single nucleotide variantPathogenicrs80359046GRCh37Chr 13, 32937406: 32937406
785BRCA2NM_000059.3(BRCA2): c.8067delT (p.Cys2689Trpfs)deletionPathogenicrs80359693GRCh37Chr 13, 32937406: 32937406
786BRCA2NM_000059.3(BRCA2): c.8068_8069delGT (p.Val2690Phefs)deletionPathogenicrs80359694GRCh37Chr 13, 32937407: 32937408
787BRCA2NM_000059.3(BRCA2): c.8084C> G (p.Ser2695Ter)single nucleotide variantPathogenicrs80359048GRCh37Chr 13, 32937423: 32937423
788BRCA2NM_000059.3(BRCA2): c.8087T> A (p.Leu2696Ter)single nucleotide variantPathogenicrs80359050GRCh37Chr 13, 32937426: 32937426
789BRCA2NM_000059.3(BRCA2): c.8087delT (p.Leu2696Terfs)deletionPathogenicrs80359695GRCh37Chr 13, 32937426: 32937426
790BRCA2NM_000059.3(BRCA2): c.809C> G (p.Ser270Ter)single nucleotide variantPathogenicrs276174902GRCh37Chr 13, 32906424: 32906424
791BRCA2NM_000059.3(BRCA2): c.8130delT (p.Ser2710Argfs)deletionPathogenicrs80359696GRCh37Chr 13, 32937469: 32937469
792BRCA2NM_000059.3(BRCA2): c.8140C> T (p.Gln2714Ter)single nucleotide variantPathogenicrs80359058GRCh37Chr 13, 32937479: 32937479
793BRCA2NM_000059.3(BRCA2): c.8167G> C (p.Asp2723His)single nucleotide variantPathogenicrs41293511GRCh37Chr 13, 32937506: 32937506
794BRCA2NM_000059.3(BRCA2): c.818C> G (p.Ser273Ter)single nucleotide variantPathogenicrs80359068GRCh37Chr 13, 32906433: 32906433
795BRCA2NM_000059.3(BRCA2): c.8234_8237delTGAC (p.Leu2745Glnfs)deletionPathogenicrs80359699GRCh37Chr 13, 32937573: 32937576
796BRCA2NM_000059.3(BRCA2): c.8234dupT (p.Thr2746Aspfs)duplicationPathogenicrs276174903GRCh37Chr 13, 32937573: 32937574
797BRCA2NM_000059.3(BRCA2): c.8237_8238delCA (p.Thr2746Serfs)deletionPathogenicrs80359700GRCh37Chr 13, 32937576: 32937577
798BRCA2NM_000059.3(BRCA2): c.8247_8248delGA (p.Lys2750Aspfs)deletionPathogenicrs80359702GRCh37Chr 13, 32937586: 32937587
799BRCA2NM_000059.3(BRCA2): c.8331+1G> Tsingle nucleotide variantPathogenicrs81002837GRCh37Chr 13, 32937671: 32937671
800BRCA2NM_000059.3(BRCA2): c.8340_8343delTAAC (p.Asn2781Valfs)deletionPathogenicrs80359707GRCh37Chr 13, 32944547: 32944550
801BRCA2NM_000059.3(BRCA2): c.8343delC (p.Asn2781Lysfs)deletionPathogenicrs80359708GRCh37Chr 13, 32944550: 32944550
802BRCA2NM_000059.3(BRCA2): c.8377G> A (p.Gly2793Arg)single nucleotide variantLikely pathogenic, Pathogenicrs80359082GRCh37Chr 13, 32944584: 32944584
803BRCA2NM_000059.3(BRCA2): c.8394_8396delTAGinsAA (p.Arg2799Asnfs)indelPathogenicrs276174907GRCh37Chr 13, 32944601: 32944603
804BRCA2NM_000059.3(BRCA2): c.8395delA (p.Arg2799Aspfs)deletionPathogenicrs80359709GRCh37Chr 13, 32944602: 32944602
805BRCA2NM_000059.3(BRCA2): c.8436dupA (p.Gly2813Argfs)duplicationPathogenicrs80359710GRCh37Chr 13, 32944643: 32944644
806BRCA2NM_000059.3(BRCA2): c.8474delC (p.Ala2825Aspfs)deletionPathogenicrs80359711GRCh37Chr 13, 32944681: 32944681
807BRCA2NM_000059.3(BRCA2): c.8485C> T (p.Gln2829Ter)single nucleotide variantPathogenicrs80359099GRCh37Chr 13, 32944692: 32944692
808BRCA2NM_000059.3(BRCA2): c.8487+1G> Asingle nucleotide variantPathogenicrs81002798GRCh37Chr 13, 32944695: 32944695
809BRCA2NM_000059.3(BRCA2): c.8489G> A (p.Trp2830Ter)single nucleotide variantPathogenicrs80359101GRCh37Chr 13, 32945094: 32945094
810BRCA2NM_000059.3(BRCA2): c.8504C> A (p.Ser2835Ter)single nucleotide variantPathogenicrs80359102GRCh37Chr 13, 32945109: 32945109
811BRCA2NM_000059.3(BRCA2): c.8505delA (p.Ser2836Leufs)deletionPathogenicrs80359713GRCh37Chr 13, 32945110: 32945110
812BRCA2NM_000059.3(BRCA2): c.8535_8538delAGAG (p.Glu2846Lysfs)deletionPathogenicrs80359715GRCh37Chr 13, 32945140: 32945143
813BRCA2NM_000059.3(BRCA2): c.8560delT (p.Tyr2854Metfs)deletionPathogenicrs80359717GRCh37Chr 13, 32945165: 32945165
814BRCA2NM_000059.3(BRCA2): c.8572C> T (p.Gln2858Ter)single nucleotide variantPathogenicrs80359112GRCh37Chr 13, 32945177: 32945177
815BRCA2NM_000059.3(BRCA2): c.8575C> T (p.Gln2859Ter)single nucleotide variantPathogenicrs80359115GRCh37Chr 13, 32945180: 32945180
816BRCA2NM_000059.3(BRCA2): c.8594T> A (p.Leu2865Ter)single nucleotide variantPathogenicrs80359118GRCh37Chr 13, 32945199: 32945199
817BRCA2NM_000059.3(BRCA2): c.8594dupT (p.Leu2865Phefs)duplicationPathogenicrs80359721GRCh37Chr 13, 32945199: 32945200
818BRCA2NM_000059.3(BRCA2): c.8629G> T (p.Glu2877Ter)single nucleotide variantPathogenicrs80359121GRCh37Chr 13, 32945234: 32945234
819BRCA2NM_000059.3(BRCA2): c.8633_8754del122 (p.Glu2878Glyfs)deletionPathogenicGRCh37Chr 13, 32950807: 32950928
820BRCA2NM_000059.3(BRCA2): c.8636dupA (p.Asn2879Lysfs)duplicationPathogenicrs80359723GRCh37Chr 13, 32950810: 32950811
821BRCA2NM_000059.3(BRCA2): c.8647delC (p.Pro2883Hisfs)deletionPathogenicrs276174910GRCh37Chr 13, 32950821: 32950821
822BRCA2NM_000059.3(BRCA2): c.8673_8674delAA (p.Arg2892Thrfs)deletionPathogenicrs80359724GRCh37Chr 13, 32950847: 32950848
823BRCA2NM_000059.3(BRCA2): c.8676delA (p.Arg2892Serfs)deletionPathogenicrs80359725GRCh37Chr 13, 32950850: 32950850
824BRCA2NM_000059.3(BRCA2): c.86_87delTT (p.Leu29Glnfs)deletionPathogenicrs80359722GRCh37Chr 13, 32893232: 32893233
825BRCA2NM_000059.3(BRCA2): c.8713_8716delTATG (p.Tyr2905Lysfs)deletionPathogenicrs80359726GRCh37Chr 13, 32950887: 32950890
826BRCA2NM_000059.3(BRCA2): c.8754+3G> Csingle nucleotide variantLikely pathogenicrs397508007GRCh37Chr 13, 32950931: 32950931
827BRCA2NM_000059.3(BRCA2): c.8754+4A> Gsingle nucleotide variantPathogenicrs81002893GRCh37Chr 13, 32950932: 32950932
828BRCA2NM_000059.3(BRCA2): c.8754G> A (p.Glu2918=)single nucleotide variantLikely pathogenic, Pathogenicrs80359803GRCh37Chr 13, 32950928: 32950928
829BRCA2NM_000059.3(BRCA2): c.8756delG (p.Gly2919Valfs)deletionPathogenicrs80359728GRCh37Chr 13, 32953455: 32953455
830BRCA2NM_000059.3(BRCA2): c.8773C> T (p.Gln2925Ter)single nucleotide variantPathogenicrs80359134GRCh37Chr 13, 32953472: 32953472
831BRCA2NM_000059.3(BRCA2): c.8789delA (p.Asn2930Ilefs)deletionPathogenicrs80359729GRCh37Chr 13, 32953488: 32953488
832BRCA2NM_000059.3(BRCA2): c.880G> T (p.Glu294Ter)single nucleotide variantLikely pathogenic, Pathogenicrs397508009GRCh37Chr 13, 32906495: 32906495
833BRCA2NM_000059.3(BRCA2): c.8848delAinsCT (p.Lys2950Leufs)indelPathogenicrs276174912GRCh37Chr 13, 32953547: 32953547
834BRCA2NM_000059.3(BRCA2): c.8878C> T (p.Gln2960Ter)single nucleotide variantPathogenicrs80359140GRCh37Chr 13, 32953577: 32953577
835BRCA2NM_000059.3(BRCA2): c.8912delA (p.Lys2971Serfs)deletionPathogenicrs80359731GRCh37Chr 13, 32953611: 32953611
836BRCA2NM_000059.3(BRCA2): c.8933C> A (p.Ser2978Ter)single nucleotide variantPathogenicrs80359144GRCh37Chr 13, 32953632: 32953632
837BRCA2NM_000059.3(BRCA2): c.8954-3C> Gsingle nucleotide variantPathogenicrs81002844GRCh37Chr 13, 32953884: 32953884
838BRCA2NM_000059.3(BRCA2): c.8961_8964delGAGT (p.Ser2988Phefs)deletionPathogenicrs80359734GRCh37Chr 13, 32953894: 32953897
839BRCA2NM_000059.3(BRCA2): c.8970G> A (p.Trp2990Ter)single nucleotide variantPathogenicrs80359149GRCh37Chr 13, 32953903: 32953903
840BRCA2NM_000059.3(BRCA2): c.897_898insC (p.Val300Argfs)insertionPathogenicrs80359735GRCh37Chr 13, 32906512: 32906513
841BRCA2NM_000059.3(BRCA2): c.8980_8983delTCAG (p.Ser2994Ilefs)deletionPathogenicrs80359737GRCh37Chr 13, 32953913: 32953916
842BRCA2NM_000059.3(BRCA2): c.8999T> A (p.Leu3000Ter)single nucleotide variantPathogenicrs80359151GRCh37Chr 13, 32953932: 32953932
843BRCA2NM_000059.3(BRCA2): c.9016_9017delTA (p.Tyr3006Glnfs)deletionPathogenicrs80359740GRCh37Chr 13, 32953949: 32953950
844BRCA2NM_000059.3(BRCA2): c.9018C> A (p.Tyr3006Ter)single nucleotide variantPathogenicrs80359154GRCh37Chr 13, 32953951: 32953951
845BRCA2NM_000059.3(BRCA2): c.901dupG (p.Asp301Glyfs)duplicationPathogenicrs80359738GRCh37Chr 13, 32906516: 32906517
846BRCA2NM_000059.3(BRCA2): c.9027delT (p.His3010Ilefs)deletionPathogenicrs80359742GRCh37Chr 13, 32953960: 32953960
847BRCA2NM_000059.3(BRCA2): c.9041C> A (p.Ser3014Ter)single nucleotide variantPathogenicrs80359156GRCh37Chr 13, 32953974: 32953974
848BRCA2NM_000059.3(BRCA2): c.9054_9055delTA (p.Ser3018Argfs)deletionPathogenicrs80359743GRCh37Chr 13, 32953987: 32953988
849BRCA2NM_000059.3(BRCA2): c.9057delA (p.Lys3019Asnfs)deletionPathogenicrs80359744GRCh37Chr 13, 32953990: 32953990
850BRCA2NM_000059.3(BRCA2): c.9069_9076delTAACATAC (p.Asn3024Valfs)deletionPathogenicrs80359746GRCh37Chr 13, 32954002: 32954009
851BRCA2NM_000059.3(BRCA2): c.9098_9099insA (p.Gln3034Serfs)insertionPathogenicrs80359747GRCh37Chr 13, 32954031: 32954032
852BRCA2NM_000059.3(BRCA2): c.9099_9100delTC (p.Gln3034Valfs)deletionPathogenicrs80359748GRCh37Chr 13, 32954032: 32954033
853BRCA2NM_000059.3(BRCA2): c.9100C> T (p.Gln3034Ter)single nucleotide variantPathogenicrs80359163GRCh37Chr 13, 32954033: 32954033
854BRCA2NM_000059.3(BRCA2): c.9109C> T (p.Gln3037Ter)single nucleotide variantPathogenicrs397508037GRCh37Chr 13, 32954042: 32954042
855BRCA2NM_000059.3(BRCA2): c.9117+1G> Asingle nucleotide variantPathogenicrs81002802GRCh37Chr 13, 32954051: 32954051
856BRCA2NM_000059.3(BRCA2): c.9117+1G> Tsingle nucleotide variantPathogenicrs81002802GRCh37Chr 13, 32954051: 32954051
857BRCA2NM_000059.3(BRCA2): c.9118-2A> Gsingle nucleotide variantPathogenicrs81002862GRCh37Chr 13, 32954142: 32954142
858BRCA2NM_000059.3(BRCA2): c.9148C> T (p.Gln3050Ter)single nucleotide variantPathogenicrs80359170GRCh37Chr 13, 32954174: 32954174
859BRCA2NM_000059.3(BRCA2): c.9157delG (p.Glu3053Serfs)deletionPathogenicrs80359750GRCh37Chr 13, 32954183: 32954183
860BRCA2NM_000059.3(BRCA2): c.9177delA (p.Lys3059Asnfs)deletionPathogenicrs80359751GRCh37Chr 13, 32954203: 32954203
861BRCA2NM_000059.3(BRCA2): c.9182T> A (p.Leu3061Ter)single nucleotide variantPathogenicrs80359175GRCh37Chr 13, 32954208: 32954208
862BRCA2NM_000059.3(BRCA2): c.9207T> A (p.Cys3069Ter)single nucleotide variantPathogenicrs80359183GRCh37Chr 13, 32954233: 32954233
863BRCA2NM_000059.3(BRCA2): c.9256+1G> Asingle nucleotide variantPathogenicrs81002883GRCh37Chr 13, 32954283: 32954283
864BRCA2NM_000059.3(BRCA2): c.9256G> T (p.Gly3086Ter)single nucleotide variantPathogenicrs80359192GRCh37Chr 13, 32954282: 32954282
865BRCA2NM_000059.3(BRCA2): c.9257-1G> Csingle nucleotide variantLikely pathogenic, Pathogenicrs81002889GRCh37Chr 13, 32968825: 32968825
866BRCA2NM_000059.3(BRCA2): c.9269dupT (p.Val3091Argfs)duplicationPathogenicrs80359753GRCh37Chr 13, 32968838: 32968839
867BRCA2NM_000059.3(BRCA2): c.9276T> G (p.Tyr3092Ter)single nucleotide variantPathogenicrs80359197GRCh37Chr 13, 32968845: 32968845
868BRCA2NM_000059.3(BRCA2): c.9285C> G (p.Asp3095Glu)single nucleotide variantPathogenicrs80359198GRCh37Chr 13, 32968854: 32968854
869BRCA2NM_000059.3(BRCA2): c.9286G> T (p.Glu3096Ter)single nucleotide variantPathogenicrs80359199GRCh37Chr 13, 32968855: 32968855
870BRCA2NM_000059.3(BRCA2): c.930_931delAT (p.Cys311Phefs)deletionPathogenicrs80359755GRCh37Chr 13, 32906545: 32906546
871BRCA2NM_000059.3(BRCA2): c.9310_9311delAA (p.Lys3104Valfs)deletionPathogenicrs80359756GRCh37Chr 13, 32968879: 32968880
872BRCA2NM_000059.3(BRCA2): c.9317G> A (p.Trp3106Ter)single nucleotide variantPathogenicrs80359205GRCh37Chr 13, 32968886: 32968886
873BRCA2NM_000059.3(BRCA2): c.9331G> T (p.Glu3111Ter)single nucleotide variantPathogenicrs397508047GRCh37Chr 13, 32968900: 32968900
874BRCA2NM_000059.3(BRCA2): c.9356T> G (p.Leu3119Ter)single nucleotide variantPathogenicrs80359207GRCh37Chr 13, 32968925: 32968925
875BRCA2NM_000059.3(BRCA2): c.9360delT (p.Ile3120Metfs)deletionPathogenicrs80359757GRCh37Chr 13, 32968929: 32968929
876BRCA2NM_000059.3(BRCA2): c.9376C> T (p.Gln3126Ter)single nucleotide variantPathogenicrs80359210GRCh37Chr 13, 32968945: 32968945
877BRCA2NM_000059.3(BRCA2): c.9403delC (p.Leu3135Phefs)deletionPathogenicrs80359760GRCh37Chr 13, 32968972: 32968972
878BRCA2NM_000059.3(BRCA2): c.9408delT (p.Thr3137Leufs)deletionPathogenicrs80359761GRCh37Chr 13, 32968977: 32968977
879BRCA2NM_000059.3(BRCA2): c.9426_9427delTT (p.Ser3144Cysfs)deletionPathogenicrs80359762GRCh37Chr 13, 32968995: 32968996
880BRCA2NM_000059.3(BRCA2): c.9455_9456delAG (p.Glu3152Glyfs)deletionPathogenicrs80359764GRCh37Chr 13, 32969024: 32969025
881BRCA2NM_000059.3(BRCA2): c.9466delC (p.Gln3156Lysfs)deletionPathogenicrs80359766GRCh37Chr 13, 32969035: 32969035
882BRCA2NM_000059.3(BRCA2): c.9481A> T (p.Lys3161Ter)single nucleotide variantPathogenicrs80359222GRCh37Chr 13, 32969050: 32969050
883BRCA2NM_000059.3(BRCA2): c.9501G> A (p.Glu3167=)single nucleotide variantPathogenicrs80359808GRCh37Chr 13, 32969070: 32969070
884BRCA2NM_000059.3(BRCA2): c.9502-2A> Csingle nucleotide variantLikely pathogenic, Pathogenicrs81002868GRCh37Chr 13, 32971033: 32971033
885BRCA2NM_000059.3(BRCA2): c.9507delT (p.Ile3169Metfs)deletionPathogenicrs80359767GRCh37Chr 13, 32971040: 32971040
886BRCA2NM_000059.3(BRCA2): c.9513_9516delACTT (p.Leu3172Alafs)deletionPathogenicrs80359769GRCh37Chr 13, 32971046: 32971049
887BRCA2NM_000059.3(BRCA2): c.9541_9554delATGCATATACTGCA (p.Met3181Cysfs)deletionPathogenicrs397508062GRCh37Chr 13, 32971074: 32971087
888BRCA2NM_000059.3(BRCA2): c.956dupA (p.Asn319Lysfs)duplicationPathogenicrs80359770GRCh37Chr 13, 32906571: 32906572
889BRCA2NM_000059.3(BRCA2): c.961C> T (p.Gln321Ter)single nucleotide variantPathogenicrs80359234GRCh37Chr 13, 32906576: 32906576
890BRCA2NM_000059.3(BRCA2): c.9649-2A> Gsingle nucleotide variantPathogenicrs81002895GRCh37Chr 13, 32972297: 32972297
891BRCA2NM_000059.3(BRCA2): c.9666delT (p.Cys3222Trpfs)deletionPathogenicrs80359772GRCh37Chr 13, 32972316: 32972316
892BRCA2NM_000059.3(BRCA2): c.9676delT (p.Tyr3226Ilefs)deletionPathogenicrs80359774GRCh37Chr 13, 32972326: 32972326
893BRCA2NM_000059.3(BRCA2): c.9868delG (p.Val3290Phefs)deletionPathogenicrs80359776GRCh37Chr 13, 32972518: 32972518
894BRCA2NM_000059.3(BRCA2): c.9883C> T (p.Gln3295Ter)single nucleotide variantPathogenicrs80359247GRCh37Chr 13, 32972533: 32972533
895BRCA2NM_000059.3(BRCA2): c.9925G> T (p.Glu3309Ter)single nucleotide variantPathogenicrs80359251GRCh37Chr 13, 32972575: 32972575
896BRCA2NM_000059.3(BRCA2): c.993_994delAA (p.Lys331Asnfs)deletionPathogenicrs80359777GRCh37Chr 13, 32906608: 32906609
897BRCA2NM_000059.3(BRCA2): c.994delA (p.Ile332Phefs)deletionPathogenicrs80359778GRCh37Chr 13, 32906609: 32906609
898BRCA1NM_007294.3(BRCA1): c.1008dupA (p.Glu337Argfs)duplicationPathogenicrs67284603GRCh37Chr 17, 41246539: 41246540
899BRCA1NM_007294.3(BRCA1): c.1016dupA (p.Val340Glyfs)duplicationPathogenicrs80357569GRCh37Chr 17, 41246531: 41246532
900BRCA1NM_007294.3(BRCA1): c.101delC (p.Pro34Leufs)deletionPathogenicrs80357750GRCh37Chr 17, 41267776: 41267776
901BRCA1NM_007294.3(BRCA1): c.1045G> T (p.Glu349Ter)single nucleotide variantPathogenicrs80357338GRCh37Chr 17, 41246503: 41246503
902BRCA1NM_007294.3(BRCA1): c.1054G> T (p.Glu352Ter)single nucleotide variantPathogenicrs80357472GRCh37Chr 17, 41246494: 41246494
903BRCA1NM_007294.3(BRCA1): c.1058G> A (p.Trp353Ter)single nucleotide variantPathogenicrs80356908GRCh37Chr 17, 41246490: 41246490
904BRCA1NM_007294.3(BRCA1): c.1059G> A (p.Trp353Ter)single nucleotide variantPathogenicrs80356935GRCh37Chr 17, 41246489: 41246489
905BRCA1NM_007294.3(BRCA1): c.1066C> T (p.Gln356Ter)single nucleotide variantPathogenicrs80357215GRCh37Chr 17, 41246482: 41246482
906BRCA1NM_007294.3(BRCA1): c.1067delA (p.Gln356Argfs)deletionPathogenicrs80357796GRCh37Chr 17, 41246481: 41246481
907BRCA1NM_007294.3(BRCA1): c.1072delC (p.Leu358Cysfs)deletionPathogenicrs80357836GRCh37Chr 17, 41246476: 41246476
908BRCA1NM_007294.3(BRCA1): c.1082_1092delCAGAGAATCCT (p.Ser361Terfs)deletionPathogenicrs80359880GRCh37Chr 17, 41246456: 41246466
909BRCA1NM_007294.3(BRCA1): c.1086_1087delGA (p.Asn363Serfs)deletionPathogenicrs80357897GRCh37Chr 17, 41246461: 41246462
910BRCA1NM_007294.3(BRCA1): c.1088delA (p.Asn363Ilefs)deletionPathogenicrs80357954GRCh37Chr 17, 41246460: 41246460
911BRCA1NM_007294.3(BRCA1): c.1102G> T (p.Glu368Ter)single nucleotide variantPathogenicrs80357139GRCh37Chr 17, 41246446: 41246446
912BRCA1NM_007294.3(BRCA1): c.1116G> A (p.Trp372Ter)single nucleotide variantPathogenicrs80357468GRCh37Chr 17, 41246432: 41246432
913BRCA1NM_007294.3(BRCA1): c.1121_1123delCACinsT (p.Thr374Ilefs)indelPathogenicrs273897652GRCh37Chr 17, 41246425: 41246427
914BRCA1NM_007294.3(BRCA1): c.1127delA (p.Asn376Ilefs)deletionPathogenicrs80357821GRCh37Chr 17, 41246421: 41246421
915BRCA1NM_007294.3(BRCA1): c.112_113delAA (p.Lys38Valfs)deletionPathogenicrs80357949GRCh37Chr 17, 41267764: 41267765
916BRCA1NM_007294.3(BRCA1): c.1141A> T (p.Lys381Ter)single nucleotide variantPathogenicrs80357385GRCh37Chr 17, 41246407: 41246407
917BRCA1NM_007294.3(BRCA1): c.115T> C (p.Cys39Arg)single nucleotide variantPathogenicrs80357164GRCh37Chr 17, 41267762: 41267762
918BRCA1NM_007294.3(BRCA1): c.1165delA (p.Ser389Valfs)deletionPathogenicrs80357985GRCh37Chr 17, 41246383: 41246383
919BRCA1NM_007294.3(BRCA1): c.1166delG (p.Ser389Metfs)deletionPathogenicrs273897653GRCh37Chr 17, 41246382: 41246382
920BRCA1NM_007294.3(BRCA1): c.117_118delTG (p.Cys39Terfs)deletionPathogenicrs80357972GRCh37Chr 17, 41267759: 41267760
921BRCA1NM_007294.3(BRCA1): c.1193C> G (p.Ser398Ter)single nucleotide variantPathogenicrs80357068GRCh37Chr 17, 41246355: 41246355
922BRCA1NM_007294.3(BRCA1): c.1204delG (p.Glu402Serfs)deletionPathogenicrs80357859GRCh37Chr 17, 41246344: 41246344
923BRCA1NM_007294.3(BRCA1): c.1214C> A (p.Ser405Ter)single nucleotide variantPathogenicrs80357481GRCh37Chr 17, 41246334: 41246334
924BRCA1NM_007294.3(BRCA1): c.1240_1246delGACGTTC (p.Asp414Terfs)deletionPathogenicrs80357964GRCh37Chr 17, 41246302: 41246308
925BRCA1NM_007294.3(BRCA1): c.1241dupA (p.Asp414Glufs)duplicationPathogenicrs80357514GRCh37Chr 17, 41246306: 41246307
926BRCA1NM_007294.3(BRCA1): c.124delA (p.Ile42Tyrfs)deletionPathogenicrs80357943GRCh37Chr 17, 41267753: 41267753
927BRCA1NM_007294.3(BRCA1): c.1252G> T (p.Glu418Ter)single nucleotide variantPathogenicrs80357083GRCh37Chr 17, 41246296: 41246296
928BRCA1NM_007294.3(BRCA1): c.1255delG (p.Val419Terfs)deletionPathogenicrs80357535GRCh37Chr 17, 41246293: 41246293
929BRCA1NM_007294.3(BRCA1): c.1265dupA (p.Tyr422Terfs)duplicationPathogenicrs80357809GRCh37Chr 17, 41246282: 41246283
930BRCA1NM_007294.3(BRCA1): c.1266T> G (p.Tyr422Ter)single nucleotide variantPathogenicrs80357417GRCh37Chr 17, 41246282: 41246282
931BRCA1NM_007294.3(BRCA1): c.1276delT (p.Ser426Glnfs)deletionPathogenicrs80357766GRCh37Chr 17, 41246272: 41246272
932BRCA1NM_007294.3(BRCA1): c.1287dupA (p.Asp430Argfs)duplicationPathogenicrs80357576GRCh37Chr 17, 41246260: 41246261
933BRCA1NM_007294.3(BRCA1): c.1292T> G (p.Leu431Ter)single nucleotide variantPathogenicrs80357346GRCh37Chr 17, 41246256: 41246256
934BRCA1NM_007294.3(BRCA1): c.1292dupT (p.Leu431Phefs)duplicationPathogenicrs80357528GRCh37Chr 17, 41246255: 41246256
935BRCA1NM_007294.3(BRCA1): c.1297delG (p.Ala433Profs)deletionPathogenicrs80357794GRCh37Chr 17, 41246251: 41246251
936BRCA1NM_007294.3(BRCA1): c.130delT (p.Cys44Alafs)deletionPathogenicrs80357951GRCh37Chr 17, 41267747: 41267747
937BRCA1NM_007294.3(BRCA1): c.1319delT (p.Leu440Terfs)deletionPathogenicrs80357683GRCh37Chr 17, 41246229: 41246229
938BRCA1NM_007294.3(BRCA1): c.131G> A (p.Cys44Tyr)single nucleotide variantPathogenicrs80357446GRCh37Chr 17, 41267746: 41267746
939BRCA1NM_007294.3(BRCA1): c.131G> T (p.Cys44Phe)single nucleotide variantPathogenicrs80357446GRCh37Chr 17, 41267746: 41267746
940BRCA1NM_007294.3(BRCA1): c.1323_1324delAT (p.Ile441Metfs)deletionPathogenicrs80357570GRCh37Chr 17, 41246224: 41246225
941BRCA1NM_007294.3(BRCA1): c.1333G> T (p.Glu445Ter)single nucleotide variantPathogenicrs80356915GRCh37Chr 17, 41246215: 41246215
942BRCA1NM_007294.3(BRCA1): c.1335_1336delAA (p.Arg446Serfs)deletionPathogenicrs80357978GRCh37Chr 17, 41246212: 41246213
943BRCA1NM_007294.3(BRCA1): c.134+1G> Tsingle nucleotide variantPathogenicrs80358043GRCh37Chr 17, 41267742: 41267742
944BRCA1NM_007294.3(BRCA1): c.134+2T> Gsingle nucleotide variantPathogenicrs80358131GRCh37Chr 17, 41267741: 41267741
945BRCA1NM_007294.3(BRCA1): c.135-1G> Csingle nucleotide variantPathogenicrs80358158GRCh37Chr 17, 41258551: 41258551
946BRCA1NM_007294.3(BRCA1): c.1352C> A (p.Ser451Ter)single nucleotide variantPathogenicrs80356891GRCh37Chr 17, 41246196: 41246196
947BRCA1NM_007294.3(BRCA1): c.1352C> G (p.Ser451Ter)single nucleotide variantPathogenicrs80356891GRCh37Chr 17, 41246196: 41246196
948BRCA1NM_007294.3(BRCA1): c.1380dupA (p.Phe461Ilefs)duplicationPathogenicrs80357714GRCh37Chr 17, 41246167: 41246168
949BRCA1NM_007294.3(BRCA1): c.1383delT (p.Phe461Leufs)deletionPathogenicrs80357879GRCh37Chr 17, 41246165: 41246165
950BRCA1NM_007294.3(BRCA1): c.1386delG (p.Thr464Profs)deletionPathogenicrs80357722GRCh37Chr 17, 41246162: 41246162
951BRCA1NM_007294.3(BRCA1): c.1390delA (p.Thr464Profs)deletionPathogenicrs80357770GRCh37Chr 17, 41246158: 41246158
952BRCA1NM_007294.3(BRCA1): c.1399A> T (p.Lys467Ter)single nucleotide variantPathogenicrs80357279GRCh37Chr 17, 41246149: 41246149
953BRCA1NM_007294.3(BRCA1): c.1421T> G (p.Leu474Ter)single nucleotide variantPathogenicrs80357490GRCh37Chr 17, 41246127: 41246127
954BRCA1NM_007294.3(BRCA1): c.1444delA (p.Ile482Leufs)deletionPathogenicrs80357648GRCh37Chr 17, 41246104: 41246104
955BRCA1NM_007294.3(BRCA1): c.144delG (p.Met48Ilefs)deletionPathogenicrs80357682GRCh37Chr 17, 41258541: 41258541
956BRCA1NM_007294.3(BRCA1): c.1450G> T (p.Gly484Ter)single nucleotide variantPathogenicrs80357304GRCh37Chr 17, 41246098: 41246098
957BRCA1NM_007294.3(BRCA1): c.1471C> T (p.Gln491Ter)single nucleotide variantPathogenicrs62625303GRCh37Chr 17, 41246077: 41246077
958BRCA1NM_007294.3(BRCA1): c.1492delC (p.Leu498Serfs)deletionPathogenicrs80357527GRCh37Chr 17, 41246056: 41246056
959BRCA1NM_007294.3(BRCA1): c.1497_1500delAAAT (p.Lys501Terfs)deletionPathogenicrs80357632GRCh37Chr 17, 41246048: 41246051
960BRCA1NM_007294.3(BRCA1): c.1508delA (p.Lys503Serfs)deletionPathogenicrs80357506GRCh37Chr 17, 41246040: 41246040
961BRCA1NM_007294.3(BRCA1): c.150delA (p.Lys50Asnfs)deletionPathogenicrs273897662GRCh37Chr 17, 41258535: 41258535
962BRCA1NM_007294.3(BRCA1): c.1511dupG (p.Lys505Terfs)duplicationPathogenicrs80357817GRCh37Chr 17, 41246036: 41246037
963BRCA1NM_007294.3(BRCA1): c.1523delC (p.Pro508Leufs)deletionPathogenicrs80357782GRCh37Chr 17, 41246025: 41246025
964BRCA1NM_007294.3(BRCA1): c.1529C> G (p.Ser510Ter)single nucleotide variantPathogenicrs80357427GRCh37Chr 17, 41246019: 41246019
965BRCA1NM_007294.3(BRCA1): c.1530delA (p.Gly511Alafs)deletionPathogenicrs80357735GRCh37Chr 17, 41246018: 41246018
966BRCA1NM_007294.3(BRCA1): c.1551delT (p.Phe517Leufs)deletionPathogenicrs80357630GRCh37Chr 17, 41245997: 41245997
967BRCA1NM_007294.3(BRCA1): c.1576C> T (p.Gln526Ter)single nucleotide variantPathogenicrs80356984GRCh37Chr 17, 41245972: 41245972
968BRCA1NM_007294.3(BRCA1): c.1608_1611delTAAC (p.Asn537Lysfs)deletionPathogenicrs80357698GRCh37Chr 17, 41245937: 41245940
969BRCA1NM_007294.3(BRCA1): c.160C> T (p.Gln54Ter)single nucleotide variantPathogenicrs80356864GRCh37Chr 17, 41258525: 41258525
970BRCA1NM_007294.3(BRCA1): c.1612C> T (p.Gln538Ter)single nucleotide variantPathogenicrs80356893GRCh37Chr 17, 41245936: 41245936
971BRCA1NM_007294.3(BRCA1): c.1621C> T (p.Gln541Ter)single nucleotide variantPathogenicrs80356904GRCh37Chr 17, 41245927: 41245927
972BRCA1NM_007294.3(BRCA1): c.1630C> T (p.Gln544Ter)single nucleotide variantPathogenicrs80356952GRCh37Chr 17, 41245918: 41245918
973BRCA1NM_007294.3(BRCA1): c.1636_1654del19 (p.Met546Valfs)deletionPathogenicrs80359881GRCh37Chr 17, 41245894: 41245912
974BRCA1NM_007294.3(BRCA1): c.1649delA (p.Asn550Ilefs)deletionPathogenicrs80357619GRCh37Chr 17, 41245899: 41245899
975BRCA1NM_007294.3(BRCA1): c.1713_1717delAGAAT (p.Glu572Thrfs)deletionPathogenicrs80357640GRCh37Chr 17, 41245831: 41245835
976BRCA1NM_007294.3(BRCA1): c.1729_1730delGA (p.Glu577Ilefs)deletionPathogenicrs80357834GRCh37Chr 17, 41245818: 41245819
977BRCA1NM_007294.3(BRCA1): c.1747A> T (p.Lys583Ter)single nucleotide variantPathogenicrs80356928GRCh37Chr 17, 41245801: 41245801
978BRCA1NM_007294.3(BRCA1): c.1757delC (p.Pro586Leufs)deletionPathogenicrs80357723GRCh37Chr 17, 41245791: 41245791
979BRCA1NM_007294.3(BRCA1): c.1772delT (p.Ile591Lysfs)deletionPathogenicrs80357901GRCh37Chr 17, 41245776: 41245776
980BRCA1NM_007294.3(BRCA1): c.1789G> T (p.Glu597Ter)single nucleotide variantPathogenicrs55650082GRCh37Chr 17, 41245759: 41245759
981BRCA1NM_007294.3(BRCA1): c.178C> T (p.Gln60Ter)single nucleotide variantPathogenicrs80357471GRCh37Chr 17, 41258507: 41258507
982BRCA1NM_007294.3(BRCA1): c.1793T> A (p.Leu598Ter)single nucleotide variantPathogenicrs80357118GRCh37Chr 17, 41245755: 41245755
983BRCA1NM_007294.3(BRCA1): c.1793T> G (p.Leu598Ter)single nucleotide variantPathogenicrs80357118GRCh37Chr 17, 41245755: 41245755
984BRCA1NM_007294.3(BRCA1): c.179delA (p.Gln60Argfs)deletionPathogenicrs80357591GRCh37Chr 17, 41258506: 41258506
985BRCA1NM_007294.3(BRCA1): c.1819A> T (p.Lys607Ter)single nucleotide variantPathogenicrs80357220GRCh37Chr 17, 41245729: 41245729
986BRCA1NM_007294.3(BRCA1): c.1823_1826delAGAA (p.Lys608Ilefs)deletionPathogenicrs80357952GRCh37Chr 17, 41245722: 41245725
987BRCA1NM_007294.3(BRCA1): c.1825delA (p.Asn609Ilefs)deletionPathogenicrs80357736GRCh37Chr 17, 41245723: 41245723
988BRCA1NM_007294.3(BRCA1): c.182G> A (p.Cys61Tyr)single nucleotide variantPathogenicrs80357093GRCh37Chr 17, 41258503: 41258503
989BRCA1NM_007294.3(BRCA1): c.1837delA (p.Arg613Glyfs)deletionPathogenicrs80357652GRCh37Chr 17, 41245711: 41245711
990BRCA1NM_007294.3(BRCA1): c.1840A> T (p.Lys614Ter)single nucleotide variantPathogenicrs80357282GRCh37Chr 17, 41245708: 41245708
991BRCA1NM_007294.3(BRCA1): c.1870G> T (p.Glu624Ter)single nucleotide variantPathogenicrs80356950GRCh37Chr 17, 41245678: 41245678
992BRCA1NM_007294.3(BRCA1): c.1874_1877dupTAGT (p.Val627Serfs)duplicationPathogenicrs80357516GRCh37Chr 17, 41245671: 41245674
993BRCA1NM_007294.3(BRCA1): c.188T> A (p.Leu63Ter)single nucleotide variantPathogenicrs80357086GRCh37Chr 17, 41258497: 41258497
994BRCA1NM_007294.3(BRCA1): c.1892dupT (p.Ser632Lysfs)duplicationPathogenicrs80357932GRCh37Chr 17, 41245655: 41245656
995BRCA1NM_007294.3(BRCA1): c.1898delC (p.Pro633Hisfs)deletionPathogenicrs80357851GRCh37Chr 17, 41245650: 41245650
996BRCA1NM_007294.3(BRCA1): c.189dupA (p.Cys64Metfs)duplicationPathogenicrs273897665GRCh37Chr 17, 41258495: 41258496
997BRCA1NM_007294.3(BRCA1): c.190T> C (p.Cys64Arg)single nucleotide variantPathogenicrs80357064GRCh37Chr 17, 41258495: 41258495
998BRCA1NM_007294.3(BRCA1): c.1912G> T (p.Glu638Ter)single nucleotide variantPathogenicrs80357005GRCh37Chr 17, 41245636: 41245636
999BRCA1NM_007294.3(BRCA1): c.1912delG (p.Glu638Asnfs)deletionPathogenicrs80357933GRCh37Chr 17, 41245636: 41245636
1000BRCA1NM_007294.3(BRCA1): c.1916T> A (p.Leu639Ter)single nucleotide variantPathogenicrs80357267GRCh37Chr 17, 41245632: 41245632
1001BRCA1NM_007294.3(BRCA1): c.191G> A (p.Cys64Tyr)single nucleotide variantPathogenicrs55851803GRCh37Chr 17, 41258494: 41258494
1002BRCA1NM_007294.3(BRCA1): c.1945G> T (p.Glu649Ter)single nucleotide variantPathogenicrs80356907GRCh37Chr 17, 41245603: 41245603
1003BRCA1NM_007294.3(BRCA1): c.1952delA (p.Lys651Argfs)deletionPathogenicrs397508922GRCh37Chr 17, 41245596: 41245596
1004BRCA1NM_007294.3(BRCA1): c.1952dupA (p.Lys652Glufs)duplicationPathogenicrs80357885GRCh37Chr 17, 41245595: 41245596
1005BRCA1NM_007294.3(BRCA1): c.1953dupG (p.Lys652Glufs)duplicationPathogenicrs80357753GRCh37Chr 17, 41245594: 41245595
1006BRCA1NM_007294.3(BRCA1): c.195delG (p.Asn66Metfs)deletionPathogenicrs80357869GRCh37Chr 17, 41258490: 41258490
1007BRCA1NM_007294.3(BRCA1): c.1960_1961delAA (p.Lys654Valfs)deletionPathogenicrs80357643GRCh37Chr 17, 41245587: 41245588
1008BRCA1NM_007294.3(BRCA1): c.1961dupA (p.Tyr655Valfs)duplicationPathogenicrs80357853GRCh37Chr 17, 41245586: 41245587
1009BRCA1NM_007294.3(BRCA1): c.1996delC (p.Leu666Tyrfs)deletionPathogenicrs80357922GRCh37Chr 17, 41245552: 41245552
1010BRCA1NM_007294.3(BRCA1): c.1999C> T (p.Gln667Ter)single nucleotide variantPathogenicrs80356889GRCh37Chr 17, 41245549: 41245549
1011BRCA1NM_007294.3(BRCA1): c.1A> G (p.Met1Val)single nucleotide variantPathogenicrs80357287GRCh37Chr 17, 41276113: 41276113
1012BRCA1NM_007294.3(BRCA1): c.2017G> T (p.Glu673Ter)single nucleotide variantPathogenicrs80357391GRCh37Chr 17, 41245531: 41245531
1013BRCA1NM_007294.3(BRCA1): c.2017delG (p.Glu673Asnfs)deletionPathogenicrs80357638GRCh37Chr 17, 41245531: 41245531
1014BRCA1NM_007294.3(BRCA1): c.2019delA (p.Glu673Aspfs)deletionPathogenicrs80357626GRCh37Chr 17, 41245529: 41245529
1015BRCA1NM_007294.3(BRCA1): c.2035A> T (p.Lys679Ter)single nucleotide variantPathogenicrs80357082GRCh37Chr 17, 41245513: 41245513
1016BRCA1NM_007294.3(BRCA1): c.2059C> T (p.Gln687Ter)single nucleotide variantPathogenicrs273898674GRCh37Chr 17, 41245489: 41245489
1017BRCA1NM_007294.3(BRCA1): c.2074delC (p.His692Metfs)deletionPathogenicrs80357554GRCh37Chr 17, 41245474: 41245474
1018BRCA1NM_007294.3(BRCA1): c.2079_2080delCA (p.Asp693Glufs)deletionPathogenicrs80357773GRCh37Chr 17, 41245468: 41245469
1019BRCA1NM_007294.3(BRCA1): c.2105T> G (p.Leu702Ter)single nucleotide variantPathogenicrs80357298GRCh37Chr 17, 41245443: 41245443
1020BRCA1NM_007294.3(BRCA1): c.2110_2111delAA (p.Asn704Cysfs)deletionPathogenicrs80357814GRCh37Chr 17, 41245437: 41245438
1021BRCA1NM_007294.3(BRCA1): c.212+1G> Csingle nucleotide variantPathogenicrs80358042GRCh37Chr 17, 41258472: 41258472
1022BRCA1NM_007294.3(BRCA1): c.212+1G> Tsingle nucleotide variantPathogenicrs80358042GRCh37Chr 17, 41258472: 41258472
1023BRCA1NM_007294.3(BRCA1): c.212+2T> Csingle nucleotide variantPathogenicrs80358026GRCh37Chr 17, 41258471: 41258471
1024BRCA1NM_007294.3(BRCA1): c.212+3A> Gsingle nucleotide variantPathogenicrs80358083GRCh37Chr 17, 41258470: 41258470
1025BRCA1NM_007294.3(BRCA1): c.2125_2126insA (p.Phe709Tyrfs)insertionPathogenicrs80357871GRCh37Chr 17, 41245422: 41245423
1026BRCA1NM_007294.3(BRCA1): c.212G> A (p.Arg71Lys)single nucleotide variantPathogenicrs80356913GRCh37Chr 17, 41258473: 41258473
1027BRCA1NM_007294.3(BRCA1): c.213-1G> Asingle nucleotide variantPathogenicrs80358146GRCh37Chr 17, 41256974: 41256974
1028BRCA1NM_007294.3(BRCA1): c.2142delT (p.Asn714Lysfs)deletionPathogenicrs273898679GRCh37Chr 17, 41245406: 41245406
1029BRCA1NM_007294.3(BRCA1): c.2176delC (p.Leu726Phefs)deletionPathogenicrs80357668GRCh37Chr 17, 41245372: 41245372
1030BRCA1NM_007294.3(BRCA1): c.2188G> T (p.Glu730Ter)single nucleotide variantPathogenicrs80357058GRCh37Chr 17, 41245360: 41245360
1031BRCA1NM_007294.3(BRCA1): c.2188_2201delGAAAAAGAAGAGAA (p.Glu730Thrfs)deletionPathogenicrs273898681GRCh37Chr 17, 41245347: 41245360
1032BRCA1NM_007294.3(BRCA1): c.2194G> T (p.Glu732Ter)single nucleotide variantPathogenicrs80357426GRCh37Chr 17, 41245354: 41245354
1033BRCA1NM_007294.3(BRCA1): c.2197G> T (p.Glu733Ter)single nucleotide variantPathogenicrs397508949GRCh37Chr 17, 41245351: 41245351
1034BRCA1NM_007294.3(BRCA1): c.2197_2201delGAGAA (p.Glu733Thrfs)deletionPathogenicrs80357539GRCh37Chr 17, 41245347: 41245351
1035BRCA1NM_007294.3(BRCA1): c.2202delA (p.Lys734Asnfs)deletionPathogenicrs80357982GRCh37Chr 17, 41245346: 41245346
1036BRCA1NM_007294.3(BRCA1): c.2203delC (p.Leu735Terfs)deletionPathogenicrs80357936GRCh37Chr 17, 41245345: 41245345
1037BRCA1NM_007294.3(BRCA1): c.2206delG (p.Glu736Lysfs)deletionPathogenicrs80357860GRCh37Chr 17, 41245342: 41245342
1038BRCA1NM_007294.3(BRCA1): c.220C> T (p.Gln74Ter)single nucleotide variantPathogenicrs80357234GRCh37Chr 17, 41256966: 41256966
1039BRCA1NM_007294.3(BRCA1): c.2210delC (p.Thr737Lysfs)deletionPathogenicrs80357793GRCh37Chr 17, 41245338: 41245338
1040BRCA1NM_007294.3(BRCA1): c.2215A> T (p.Lys739Ter)single nucleotide variantPathogenicrs56329598GRCh37Chr 17, 41245333: 41245333
1041BRCA1NM_007294.3(BRCA1): c.2236dupG (p.Asp746Glyfs)duplicationPathogenicrs80357909GRCh37Chr 17, 41245311: 41245312
1042BRCA1NM_007294.3(BRCA1): c.2241delC (p.Asp749Ilefs)deletionPathogenicrs80357650GRCh37Chr 17, 41245307: 41245307
1043BRCA1NM_007294.3(BRCA1): c.2241dupC (p.Lys748Glnfs)duplicationPathogenicrs397508953GRCh37Chr 17, 41245306: 41245307
1044BRCA1NM_007294.3(BRCA1): c.224_227delAAAG (p.Glu75Valfs)deletionPathogenicrs80357697GRCh37Chr 17, 41256959: 41256962
1045BRCA1NM_007294.3(BRCA1): c.2253_2254delGT (p.Met751Ilefs)deletionPathogenicrs80357602GRCh37Chr 17, 41245294: 41245295
1046BRCA1NM_007294.3(BRCA1): c.2263G> T (p.Glu755Ter)single nucleotide variantPathogenicrs41286296GRCh37Chr 17, 41245285: 41245285
1047BRCA1NM_007294.3(BRCA1): c.2263delG (p.Glu755Lysfs)deletionPathogenicrs80357960GRCh37Chr 17, 41245285: 41245285
1048BRCA1NM_007294.3(BRCA1): c.2275C> T (p.Gln759Ter)single nucleotide variantPathogenicrs80356999GRCh37Chr 17, 41245273: 41245273
1049BRCA1NM_007294.3(BRCA1): c.2283_2284delAA (p.Arg762Ilefs)deletionPathogenicrs80357657GRCh37Chr 17, 41245264: 41245265
1050BRCA1NM_007294.3(BRCA1): c.2293G> T (p.Glu765Ter)single nucleotide variantPathogenicrs80357449GRCh37Chr 17, 41245255: 41245255
1051BRCA1NM_007294.3(BRCA1): c.2309C> A (p.Ser770Ter)single nucleotide variantPathogenicrs80357063GRCh37Chr 17, 41245239: 41245239
1052BRCA1NM_007294.3(BRCA1): c.2314delG (p.Val772Tyrfs)deletionPathogenicrs80357957GRCh37Chr 17, 41245234: 41245234
1053BRCA1NM_007294.3(BRCA1): c.2329delT (p.Tyr777Metfs)deletionPathogenicrs80357725GRCh37Chr 17, 41245219: 41245219
1054BRCA1NM_007294.3(BRCA1): c.232delA (p.Arg78Aspfs)deletionPathogenicrs80357884GRCh37Chr 17, 41256954: 41256954
1055BRCA1NM_007294.3(BRCA1): c.2331T> A (p.Tyr777Ter)single nucleotide variantPathogenicrs80357444GRCh37Chr 17, 41245217: 41245217
1056BRCA1NM_007294.3(BRCA1): c.2338C> T (p.Gln780Ter)single nucleotide variantPathogenicrs80356945GRCh37Chr 17, 41245210: 41245210
1057BRCA1NM_007294.3(BRCA1): c.2351_2357delCGTTACT (p.Ser784Trpfs)deletionPathogenicrs80357820GRCh37Chr 17, 41245191: 41245197
1058BRCA1NM_007294.3(BRCA1): c.2359dupG (p.Glu787Glyfs)duplicationPathogenicrs80357739GRCh37Chr 17, 41245188: 41245189
1059BRCA1NM_007294.3(BRCA1): c.2389_2390delGA (p.Glu797Thrfs)deletionPathogenicrs80357695GRCh37Chr 17, 41245158: 41245159
1060BRCA1NM_007294.3(BRCA1): c.2390_2391delAA (p.Glu797Alafs)deletionPathogenicrs80357546GRCh37Chr 17, 41245157: 41245158
1061BRCA1NM_007294.3(BRCA1): c.2393delC (p.Pro798Glnfs)deletionPathogenicrs80357850GRCh37Chr 17, 41245155: 41245155
1062BRCA1NM_007294.3(BRCA1): c.2403T> A (p.Cys801Ter)single nucleotide variantPathogenicrs80357381GRCh37Chr 17, 41245145: 41245145
1063BRCA1NM_007294.3(BRCA1): c.2405_2406delTG (p.Val802Glufs)deletionPathogenicrs80357706GRCh37Chr 17, 41245142: 41245143
1064BRCA1NM_007294.3(BRCA1): c.2406_2409delGAGT (p.Gln804Valfs)deletionPathogenicrs80357674GRCh37Chr 17, 41245139: 41245142
1065BRCA1NM_007294.3(BRCA1): c.2410C> T (p.Gln804Ter)single nucleotide variantPathogenicrs80356982GRCh37Chr 17, 41245138: 41245138
1066BRCA1NM_007294.3(BRCA1): c.241C> T (p.Gln81Ter)single nucleotide variantPathogenicrs80357350GRCh37Chr 17, 41256945: 41256945
1067BRCA1NM_007294.3(BRCA1): c.2437G> T (p.Gly813Ter)single nucleotide variantPathogenicrs80357186GRCh37Chr 17, 41245111: 41245111
1068BRCA1NM_007294.3(BRCA1): c.2450delG (p.Gly817Valfs)deletionPathogenicrs80357679GRCh37Chr 17, 41245098: 41245098
1069BRCA1NM_007294.3(BRCA1): c.2468delG (p.Arg823Lysfs)deletionPathogenicrs80357799GRCh37Chr 17, 41245080: 41245080
1070BRCA1NM_007294.3(BRCA1): c.2476delA (p.Thr826Glnfs)deletionPathogenicrs80357631GRCh37Chr 17, 41245072: 41245072
1071BRCA1NM_007294.3(BRCA1): c.2477_2478delCA (p.Thr826Argfs)deletionPathogenicrs80357800GRCh37Chr 17, 41245070: 41245071
1072BRCA1NM_007294.3(BRCA1): c.2477delC (p.Thr826Lysfs)deletionPathogenicrs80357740GRCh37Chr 17, 41245071: 41245071
1073BRCA1NM_007294.3(BRCA1): c.2487delT (p.Phe829Leufs)deletionPathogenicrs80357658GRCh37Chr 17, 41245061: 41245061
1074BRCA1NM_007294.3(BRCA1): c.2513delA (p.Asn838Thrfs)deletionPathogenicrs80357863GRCh37Chr 17, 41245035: 41245035
1075BRCA1NM_007294.3(BRCA1): c.2517_2518delCA (p.His839Glnfs)deletionPathogenicrs397508974GRCh37Chr 17, 41245030: 41245031
1076BRCA1NM_007294.3(BRCA1): c.2545G> T (p.Glu849Ter)single nucleotide variantPathogenicrs80356951GRCh37Chr 17, 41245003: 41245003
1077BRCA1NM_007294.3(BRCA1): c.2558dupA (p.Asp853Glufs)duplicationPathogenicrs80357835GRCh37Chr 17, 41244989: 41244990
1078BRCA1NM_007294.3(BRCA1): c.2568T> G (p.Tyr856Ter)single nucleotide variantPathogenicrs80356832GRCh37Chr 17, 41244980: 41244980
1079BRCA1NM_007294.3(BRCA1): c.2591C> G (p.Ser864Ter)single nucleotide variantPathogenicrs80357003GRCh37Chr 17, 41244957: 41244957
1080BRCA1NM_007294.3(BRCA1): c.2594delA (p.Lys865Serfs)deletionPathogenicrs397508984GRCh37Chr 17, 41244954: 41244954
1081BRCA1NM_007294.3(BRCA1): c.2611_2612delCC (p.Pro871Valfs)deletionPathogenicrs80357962GRCh37Chr 17, 41244936: 41244937
1082BRCA1NM_007294.3(BRCA1): c.2612_2613insT (p.Phe872Valfs)insertionPathogenicrs80357948GRCh37Chr 17, 41244935: 41244936
1083BRCA1NM_007294.3(BRCA1): c.2617dupT (p.Ser873Phefs)duplicationPathogenicrs80357912GRCh37Chr 17, 41244930: 41244931
1084BRCA1NM_007294.3(BRCA1): c.2646_2648delTGC (p.Cys882Ter)deletionPathogenicrs80357513GRCh37Chr 17, 41244900: 41244902
1085BRCA1NM_007294.3(BRCA1): c.2670delG (p.Ser891Profs)deletionPathogenicrs80357659GRCh37Chr 17, 41244878: 41244878
1086BRCA1NM_007294.3(BRCA1): c.2675_2678delTAAA (p.Leu892Terfs)deletionPathogenicrs80357518GRCh37Chr 17, 41244870: 41244873
1087BRCA1NM_007294.3(BRCA1): c.2683C> T (p.Gln895Ter)single nucleotide variantPathogenicrs397508997GRCh37Chr 17, 41244865: 41244865
1088BRCA1NM_007294.3(BRCA1): c.2685_2686delAA (p.Pro897Lysfs)deletionPathogenicrs80357636GRCh37Chr 17, 41244862: 41244863
1089BRCA1NM_007294.3(BRCA1): c.269_281delTTTGTGCTTTTCA (p.Ile90Serfs)deletionPathogenicrs80359879GRCh37Chr 17, 41256905: 41256917
1090BRCA1NM_007294.3(BRCA1): c.2709delT (p.Cys903Trpfs)deletionPathogenicrs80357594GRCh37Chr 17, 41244839: 41244839
1091BRCA1NM_007294.3(BRCA1): c.2719_2722delGAAG (p.Glu907Lysfs)deletionPathogenicrs80357731GRCh37Chr 17, 41244826: 41244829
1092BRCA1NM_007294.3(BRCA1): c.2722G> T (p.Glu908Ter)single nucleotide variantPathogenicrs80356978GRCh37Chr 17, 41244826: 41244826
1093BRCA1NM_007294.3(BRCA1): c.2726delA (p.Asn909Ilefs)deletionPathogenicrs80357614GRCh37Chr 17, 41244822: 41244822
1094BRCA1NM_007294.3(BRCA1): c.2726dupA (p.Asn909Lysfs)duplicationPathogenicrs80357685GRCh37Chr 17, 41244821: 41244822
1095BRCA1NM_007294.3(BRCA1): c.2727_2730delTCAA (p.Asn909Lysfs)deletionPathogenicrs80357605GRCh37Chr 17, 41244818: 41244821
1096BRCA1NM_007294.3(BRCA1): c.2740G> T (p.Glu914Ter)single nucleotide variantPathogenicrs80357419GRCh37Chr 17, 41244808: 41244808
1097BRCA1NM_007294.3(BRCA1): c.2744_2745delCT (p.Ser915Terfs)deletionPathogenicrs397509007GRCh37Chr 17, 41244803: 41244804
1098BRCA1NM_007294.3(BRCA1): c.2749dupA (p.Ile917Asnfs)duplicationPathogenicrs80357942GRCh37Chr 17, 41244798: 41244799
1099BRCA1NM_007294.3(BRCA1): c.2761C> T (p.Gln921Ter)single nucleotide variantPathogenicrs80357377GRCh37Chr 17, 41244787: 41244787
1100BRCA1NM_007294.3(BRCA1): c.2762delA (p.Gln921Argfs)deletionPathogenicrs80357703GRCh37Chr 17, 41244786: 41244786
1101BRCA1NM_007294.3(BRCA1): c.2764_2767delACAG (p.Thr922Leufs)deletionPathogenicrs80357822GRCh37Chr 17, 41244781: 41244784
1102BRCA1NM_007294.3(BRCA1): c.2766delA (p.Val923Leufs)deletionPathogenicrs80357812GRCh37Chr 17, 41244782: 41244782
1103BRCA1NM_007294.3(BRCA1): c.2767_2770delGTTA (p.Val923Ilefs)deletionPathogenicrs80357661GRCh37Chr 17, 41244778: 41244781
1104BRCA1NM_007294.3(BRCA1): c.2796_2799delTGGT (p.Gly933Argfs)deletionPathogenicrs80357840GRCh37Chr 17, 41244749: 41244752
1105BRCA1NM_007294.3(BRCA1): c.2800C> T (p.Gln934Ter)single nucleotide variantPathogenicrs80357223GRCh37Chr 17, 41244748: 41244748
1106BRCA1NM_007294.3(BRCA1): c.2805delA (p.Asp936Ilefs)deletionPathogenicrs397509012GRCh37Chr 17, 41244743: 41244743
1107BRCA1NM_007294.3(BRCA1): c.2812_2813delCCinsG (p.Pro938Glufs)indelPathogenicrs273899689GRCh37Chr 17, 41244735: 41244736
1108BRCA1NM_007294.3(BRCA1): c.2832T> A (p.Cys944Ter)single nucleotide variantPathogenicrs80357458GRCh37Chr 17, 41244716: 41244716
1109BRCA1NM_007294.3(BRCA1): c.2834_2836delGTAinsC (p.Ser945Thrfs)indelPathogenicrs386134270GRCh37Chr 17, 41244712: 41244714
1110BRCA1NM_007294.3(BRCA1): c.2835dupT (p.Ile946Tyrfs)duplicationPathogenicrs80357519GRCh37Chr 17, 41244712: 41244713
1111BRCA1NM_007294.3(BRCA1): c.2840_2841delAA (p.Lys947Argfs)deletionPathogenicrs80357984GRCh37Chr 17, 41244707: 41244708
1112BRCA1NM_007294.3(BRCA1): c.2864C> A (p.Ser955Ter)single nucleotide variantPathogenicrs80357295GRCh37Chr 17, 41244684: 41244684
1113BRCA1NM_007294.3(BRCA1): c.2866_2870delTCTCA (p.Ser956Valfs)deletionPathogenicrs80357961GRCh37Chr 17, 41244678: 41244682
1114BRCA1NM_007294.3(BRCA1): c.2869C> T (p.Gln957Ter)single nucleotide variantPathogenicrs80356973GRCh37Chr 17, 41244679: 41244679
1115BRCA1NM_007294.3(BRCA1): c.2887delA (p.Thr963Leufs)deletionPathogenicrs80357559GRCh37Chr 17, 41244661: 41244661
1116BRCA1NM_007294.3(BRCA1): c.290_291delCA (p.Thr97Argfs)deletionPathogenicrs80357738GRCh37Chr 17, 41256895: 41256896
1117BRCA1NM_007294.3(BRCA1): c.2910delA (p.Lys970Asnfs)deletionPathogenicrs80357893GRCh37Chr 17, 41244638: 41244638
1118BRCA1NM_007294.3(BRCA1): c.2915delG (p.Gly972Aspfs)deletionPathogenicrs80357573GRCh37Chr 17, 41244633: 41244633
1119BRCA1NM_007294.3(BRCA1): c.2920_2921delTT (p.Leu974Thrfs)deletionPathogenicrs80357611GRCh37Chr 17, 41244627: 41244628
1120BRCA1NM_007294.3(BRCA1): c.2921T> A (p.Leu974Ter)single nucleotide variantPathogenicrs80356872GRCh37Chr 17, 41244627: 41244627
1121BRCA1NM_007294.3(BRCA1): c.2923C> T (p.Gln975Ter)single nucleotide variantPathogenicrs80357497GRCh37Chr 17, 41244625: 41244625
1122BRCA1NM_007294.3(BRCA1): c.2934delT (p.Arg979Valfs)deletionPathogenicrs80357741GRCh37Chr 17, 41244614: 41244614
1123BRCA1NM_007294.3(BRCA1): c.2952delT (p.Ile986Serfs)deletionPathogenicrs80357627GRCh37Chr 17, 41244596: 41244596
1124BRCA1NM_007294.3(BRCA1): c.2955delC (p.Ile986Serfs)deletionPathogenicrs397509027GRCh37Chr 17, 41244593: 41244593
1125BRCA1NM_007294.3(BRCA1): c.2980delT (p.Cys994Valfs)deletionPathogenicrs80357502GRCh37Chr 17, 41244568: 41244568
1126BRCA1NM_007294.3(BRCA1): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs80357111GRCh37Chr 17, 41276112: 41276112
1127BRCA1NM_007294.3(BRCA1): c.2T> G (p.Met1Arg)single nucleotide variantPathogenicrs80357111GRCh37Chr 17, 41276112: 41276112
1128BRCA1NM_007294.3(BRCA1): c.3008_3009delTT (p.Phe1003Terfs)deletionPathogenicrs80357617GRCh37Chr 17, 41244539: 41244540
1129BRCA1NM_007294.3(BRCA1): c.3013delG (p.Glu1005Asnfs)deletionPathogenicrs80357937GRCh37Chr 17, 41244535: 41244535
1130BRCA1NM_007294.3(BRCA1): c.3018_3021delTTCA (p.His1006Glnfs)deletionPathogenicrs80357749GRCh37Chr 17, 41244527: 41244530
1131BRCA1NM_007294.3(BRCA1): c.302-1G> Asingle nucleotide variantPathogenicrs80358116GRCh37Chr 17, 41256279: 41256279
1132BRCA1NM_007294.3(BRCA1): c.3020C> G (p.Ser1007Ter)single nucleotide variantPathogenicrs80357168GRCh37Chr 17, 41244528: 41244528
1133BRCA1NM_007294.3(BRCA1): c.3026C> A (p.Ser1009Ter)single nucleotide variantPathogenicrs273899696GRCh37Chr 17, 41244522: 41244522
1134BRCA1NM_007294.3(BRCA1): c.3029_3030delCT (p.Pro1010Argfs)deletionPathogenicrs80357510GRCh37Chr 17, 41244518: 41244519
1135BRCA1NM_007294.3(BRCA1): c.303T> G (p.Tyr101Ter)single nucleotide variantPathogenicrs80356936GRCh37Chr 17, 41256277: 41256277
1136BRCA1NM_007294.3(BRCA1): c.3049G> T (p.Glu1017Ter)single nucleotide variantPathogenicrs80357004GRCh37Chr 17, 41244499: 41244499
1137BRCA1NM_007294.3(BRCA1): c.3084_3094delTAATAACATTA (p.Asn1029Argfs)deletionPathogenicrs80357647GRCh37Chr 17, 41244454: 41244464
1138BRCA1NM_007294.3(BRCA1): c.3097G> T (p.Glu1033Ter)single nucleotide variantPathogenicrs273899698GRCh37Chr 17, 41244451: 41244451
1139BRCA1NM_007294.3(BRCA1): c.3107_3112delTTAAAG (p.Phe1036Ter)deletionPathogenicrs80357920GRCh37Chr 17, 41244436: 41244441
1140BRCA1NM_007294.3(BRCA1): c.3108delT (p.Phe1036Leufs)deletionPathogenicrs80357841GRCh37Chr 17, 41244440: 41244440
1141BRCA1NM_007294.3(BRCA1): c.3108dupT (p.Lys1037Terfs)duplicationPathogenicrs397507209GRCh37Chr 17, 41244439: 41244440
1142BRCA1NM_007294.3(BRCA1): c.3178G> T (p.Glu1060Ter)single nucleotide variantPathogenicrs80357424GRCh37Chr 17, 41244370: 41244370
1143BRCA1NM_007294.3(BRCA1): c.317delA (p.Asn106Ilefs)deletionPathogenicrs80357950GRCh37Chr 17, 41256263: 41256263
1144BRCA1NM_007294.3(BRCA1): c.3181delA (p.Ile1061Terfs)deletionPathogenicrs80357702GRCh37Chr 17, 41244367: 41244367
1145BRCA1NM_007294.3(BRCA1): c.3188_3189delCCinsG (p.Ser1063Terfs)indelPathogenicrs273899701GRCh37Chr 17, 41244359: 41244360
1146BRCA1NM_007294.3(BRCA1): c.3193dupG (p.Asp1065Glyfs)duplicationPathogenicrs80357511GRCh37Chr 17, 41244354: 41244355
1147BRCA1NM_007294.3(BRCA1): c.321delT (p.Phe107Leufs)deletionPathogenicrs80357544GRCh37Chr 17, 41256259: 41256259
1148BRCA1NM_007294.3(BRCA1): c.3226delA (p.Arg1076Glufs)deletionPathogenicrs273899703GRCh37Chr 17, 41244322: 41244322
1149BRCA1NM_007294.3(BRCA1): c.3239T> A (p.Leu1080Ter)single nucleotide variantPathogenicrs80357145GRCh37Chr 17, 41244309: 41244309
1150BRCA1NM_007294.3(BRCA1): c.3253dupA (p.Arg1085Lysfs)duplicationPathogenicrs80357517GRCh37Chr 17, 41244294: 41244295
1151BRCA1NM_007294.3(BRCA1): c.3255dupA (p.Leu1086Ilefs)duplicationPathogenicrs80357624GRCh37Chr 17, 41244292: 41244293
1152BRCA1NM_007294.3(BRCA1): c.3257T> A (p.Leu1086Ter)single nucleotide variantPathogenicrs80357006GRCh37Chr 17, 41244291: 41244291
1153BRCA1NM_007294.3(BRCA1): c.3257T> G (p.Leu1086Ter)single nucleotide variantPathogenicrs80357006GRCh37Chr 17, 41244291: 41244291
1154BRCA1NM_007294.3(BRCA1): c.3257dupT (p.Leu1086Phefs)duplicationPathogenicrs80357858GRCh37Chr 17, 41244290: 41244291
1155BRCA1NM_007294.3(BRCA1): c.3268C> T (p.Gln1090Ter)single nucleotide variantPathogenicrs80357402GRCh37Chr 17, 41244280: 41244280
1156BRCA1NM_007294.3(BRCA1): c.3279delC (p.Tyr1094Ilefs)deletionPathogenicrs397509050GRCh37Chr 17, 41244269: 41244269
1157BRCA1NM_007294.3(BRCA1): c.3286C> T (p.Gln1096Ter)single nucleotide variantPathogenicrs80357485GRCh37Chr 17, 41244262: 41244262
1158BRCA1NM_007294.3(BRCA1): c.3286delC (p.Gln1096Lysfs)deletionPathogenicrs80357533GRCh37Chr 17, 41244262: 41244262
1159BRCA1NM_007294.3(BRCA1): c.3288_3289delAA (p.Leu1098Serfs)deletionPathogenicrs80357686GRCh37Chr 17, 41244259: 41244260
1160BRCA1NM_007294.3(BRCA1): c.3292_3293delCT (p.Leu1098Serfs)deletionPathogenicrs80357992GRCh37Chr 17, 41244255: 41244256
1161BRCA1NM_007294.3(BRCA1): c.3296delC (p.Pro1099Leufs)deletionPathogenicrs80357815GRCh37Chr 17, 41244252: 41244252
1162BRCA1NM_007294.3(BRCA1): c.329_330delAG (p.Lys110Argfs)deletionPathogenicrs80357754GRCh37Chr 17, 41256250: 41256251
1163BRCA1NM_007294.3(BRCA1): c.329dupA (p.Glu111Glyfs)duplicationPathogenicrs80357604GRCh37Chr 17, 41256250: 41256251
1164BRCA1NM_007294.3(BRCA1): c.32_33insC (p.Gln12Thrfs)insertionPathogenicrs80357811GRCh37Chr 17, 41276081: 41276082
1165BRCA1NM_007294.3(BRCA1): c.3309T> A (p.Cys1103Ter)single nucleotide variantPathogenicrs80357317GRCh37Chr 17, 41244239: 41244239
1166BRCA1NM_007294.3(BRCA1): c.3319G> T (p.Glu1107Ter)single nucleotide variantPathogenicrs80357106GRCh37Chr 17, 41244229: 41244229
1167BRCA1NM_007294.3(BRCA1): c.3325_3329delAAAAA (p.Lys1109Alafs)deletionPathogenicrs80357680GRCh37Chr 17, 41244219: 41244223
1168BRCA1NM_007294.3(BRCA1): c.3326_3329delAAAA (p.Lys1109Serfs)deletionPathogenicrs80357575GRCh37Chr 17, 41244219: 41244222
1169BRCA1NM_007294.3(BRCA1): c.3329_3330delAG (p.Lys1110Thrfs)deletionPathogenicrs80357525GRCh37Chr 17, 41244218: 41244219
1170BRCA1NM_007294.3(BRCA1): c.3329dupA (p.Gln1111Alafs)duplicationPathogenicrs80357692GRCh37Chr 17, 41244218: 41244219
1171BRCA1NM_007294.3(BRCA1): c.3331C> T (p.Gln1111Ter)single nucleotide variantPathogenicrs80357089GRCh37Chr 17, 41244217: 41244217
1172BRCA1NM_007294.3(BRCA1): c.3333delA (p.Glu1112Asnfs)deletionPathogenicrs80357966GRCh37Chr 17, 41244215: 41244215
1173BRCA1NM_007294.3(BRCA1): c.3339T> G (p.Tyr1113Ter)single nucleotide variantPathogenicrs80357421GRCh37Chr 17, 41244209: 41244209
1174BRCA1NM_007294.3(BRCA1): c.3340G> T (p.Glu1114Ter)single nucleotide variantPathogenicrs80357278GRCh37Chr 17, 41244208: 41244208
1175BRCA1NM_007294.3(BRCA1): c.3342_3345delAGAA (p.Glu1115Terfs)deletionPathogenicrs397509058GRCh37Chr 17, 41244203: 41244206
1176BRCA1NM_007294.3(BRCA1): c.3343delG (p.Glu1115Lysfs)deletionPathogenicrs273899705GRCh37Chr 17, 41244205: 41244205
1177BRCA1NM_007294.3(BRCA1): c.3359_3360delTT (p.Val1120Glufs)deletionPathogenicrs80357843GRCh37Chr 17, 41244188: 41244189
1178BRCA1NM_007294.3(BRCA1): c.3362delA (p.Asn1121Ilefs)deletionPathogenicrs80357865GRCh37Chr 17, 41244186: 41244186
1179BRCA1NM_007294.3(BRCA1): c.3365_3366delCA (p.Thr1122Argfs)deletionPathogenicrs80357892GRCh37Chr 17, 41244182: 41244183
1180BRCA1NM_007294.3(BRCA1): c.3375_3376delTC (p.Pro1126Ilefs)deletionPathogenicrs80357828GRCh37Chr 17, 41244172: 41244173
1181BRCA1NM_007294.3(BRCA1): c.3390delA (p.Asp1131Ilefs)deletionPathogenicrs80357900GRCh37Chr 17, 41244158: 41244158
1182BRCA1NM_007294.3(BRCA1): c.3397_3398delTT (p.Leu1133Argfs)deletionPathogenicrs80357577GRCh37Chr 17, 41244150: 41244151
1183BRCA1NM_007294.3(BRCA1): c.3398T> A (p.Leu1133Ter)single nucleotide variantPathogenicrs80356971GRCh37Chr 17, 41244150: 41244150
1184BRCA1NM_007294.3(BRCA1): c.3403C> T (p.Gln1135Ter)single nucleotide variantPathogenicrs80357136GRCh37Chr 17, 41244145: 41244145
1185BRCA1NM_007294.3(BRCA1): c.3417delT (p.Ser1139Argfs)deletionPathogenicrs273899706GRCh37Chr 17, 41244131: 41244131
1186BRCA1NM_007294.3(BRCA1): c.3424G> C (p.Ala1142Pro)single nucleotide variantPathogenicrs80357101GRCh37Chr 17, 41244124: 41244124
1187BRCA1NM_007294.3(BRCA1): c.342_343delTC (p.Pro115Terfs)deletionPathogenicrs80357881GRCh37Chr 17, 41256237: 41256238
1188BRCA1NM_007294.3(BRCA1): c.3430C> T (p.Gln1144Ter)single nucleotide variantPathogenicrs80357369GRCh37Chr 17, 41244118: 41244118
1189BRCA1NM_007294.3(BRCA1): c.3436_3439delTGTT (p.Cys1146Leufs)deletionPathogenicrs397509067GRCh37Chr 17, 41244109: 41244112
1190BRCA1NM_007294.3(BRCA1): c.3477_3479delAAAinsC (p.Lys1160Glyfs)indelPathogenicrs273899707GRCh37Chr 17, 41244069: 41244071
1191BRCA1NM_007294.3(BRCA1): c.3477_3480delAAAG (p.Ile1159Metfs)deletionPathogenicrs80357781GRCh37Chr 17, 41244068: 41244071
1192BRCA1NM_007294.3(BRCA1): c.34C> T (p.Gln12Ter)single nucleotide variantPathogenicrs80357134GRCh37Chr 17, 41276080: 41276080
1193BRCA1NM_007294.3(BRCA1): c.3531delT (p.Phe1177Leufs)deletionPathogenicrs80357621GRCh37Chr 17, 41244017: 41244017
1194BRCA1NM_007294.3(BRCA1): c.3544C> T (p.Gln1182Ter)single nucleotide variantPathogenicrs80357296GRCh37Chr 17, 41244004: 41244004
1195BRCA1NM_007294.3(BRCA1): c.3549_3550delAGinsT (p.Lys1183Asnfs)indelPathogenicrs273899709GRCh37Chr 17, 41243998: 41243999
1196BRCA1NM_007294.3(BRCA1): c.3569_3570delCT (p.Pro1190Glnfs)deletionPathogenicrs80357845GRCh37Chr 17, 41243978: 41243979
1197BRCA1NM_007294.3(BRCA1): c.3580delA (p.Thr1194Profs)deletionPathogenicrs80357663GRCh37Chr 17, 41243968: 41243968
1198BRCA1NM_007294.3(BRCA1): c.3586dupA (p.Thr1196Asnfs)duplicationPathogenicrs80357531GRCh37Chr 17, 41243961: 41243962
1199BRCA1NM_007294.3(BRCA1): c.3619A> T (p.Lys1207Ter)single nucleotide variantPathogenicrs80357455GRCh37Chr 17, 41243929: 41243929
1200BRCA1NM_007294.3(BRCA1): c.3626delT (p.Leu1209Terfs)deletionPathogenicrs80357571GRCh37Chr 17, 41243922: 41243922
1201BRCA1NM_007294.3(BRCA1): c.3629_3630delAG (p.Glu1210Valfs)deletionPathogenicrs80357589GRCh37Chr 17, 41243918: 41243919
1202BRCA1NM_007294.3(BRCA1): c.3640G> T (p.Glu1214Ter)single nucleotide variantPathogenicrs80356923GRCh37Chr 17, 41243908: 41243908
1203BRCA1NM_007294.3(BRCA1): c.3642_3643delGA (p.Asn1215Leufs)deletionPathogenicrs80357805GRCh37Chr 17, 41243905: 41243906
1204BRCA1NM_007294.3(BRCA1): c.3661G> T (p.Glu1221Ter)single nucleotide variantPathogenicrs80357310GRCh37Chr 17, 41243887: 41243887
1205BRCA1NM_007294.3(BRCA1): c.3664G> T (p.Glu1222Ter)single nucleotide variantPathogenicrs80357356GRCh37Chr 17, 41243884: 41243884
1206BRCA1NM_007294.3(BRCA1): c.3676_3679delTTCC (p.Phe1226Asnfs)deletionPathogenicrs80357671GRCh37Chr 17, 41243869: 41243872
1207BRCA1NM_007294.3(BRCA1): c.3699delA (p.Val1234Terfs)deletionPathogenicrs80357873GRCh37Chr 17, 41243849: 41243849
1208BRCA1NM_007294.3(BRCA1): c.3706_3707delAA (p.Asn1236Tyrfs)deletionPathogenicrs80357666GRCh37Chr 17, 41243841: 41243842
1209BRCA1NM_007294.3(BRCA1): c.3706_3713delAATATACC (p.Asn1236Phefs)deletionPathogenicrs80357552GRCh37Chr 17, 41243835: 41243842
1210BRCA1NM_007294.3(BRCA1): c.3710delT (p.Ile1237Asnfs)deletionPathogenicrs80357564GRCh37Chr 17, 41243838: 41243838
1211BRCA1NM_007294.3(BRCA1): c.3715_3717delTCTinsC (p.Ser1239Profs)indelPathogenicrs273900714GRCh37Chr 17, 41243831: 41243833
1212BRCA1NM_007294.3(BRCA1): c.3718C> T (p.Gln1240Ter)single nucleotide variantPathogenicrs80356903GRCh37Chr 17, 41243830: 41243830
1213BRCA1NM_007294.3(BRCA1): c.3722_3740del19 (p.Ser1241Leufs)deletionPathogenicrs80359882GRCh37Chr 17, 41243808: 41243826
1214BRCA1NM_007294.3(BRCA1): c.3736delA (p.Thr1246Profs)deletionPathogenicrs80357578GRCh37Chr 17, 41243812: 41243812
1215BRCA1NM_007294.3(BRCA1): c.3759dupT (p.Lys1254Terfs)duplicationPathogenicrs80357687GRCh37Chr 17, 41243788: 41243789
1216BRCA1NM_007294.3(BRCA1): c.3760_3761insT (p.Lys1254Ilefs)insertionPathogenicrs80357986GRCh37Chr 17, 41243787: 41243788
1217BRCA1NM_007294.3(BRCA1): c.3782delT (p.Leu1261Tyrfs)deletionPathogenicrs80357545GRCh37Chr 17, 41243766: 41243766
1218BRCA1NM_007294.3(BRCA1): c.3785C> A (p.Ser1262Ter)single nucleotide variantPathogenicrs80357269GRCh37Chr 17, 41243763: 41243763
1219BRCA1NM_007294.3(BRCA1): c.3794delA (p.Asn1265Ilefs)deletionPathogenicrs80357767GRCh37Chr 17, 41243754: 41243754
1220BRCA1NM_007294.3(BRCA1): c.37_40delAATG (p.Asn13Serfs)deletionPathogenicrs80357530GRCh37Chr 17, 41276074: 41276077
1221BRCA1NM_007294.3(BRCA1): c.3817C> T (p.Gln1273Ter)single nucleotide variantPathogenicrs80357208GRCh37Chr 17, 41243731: 41243731
1222BRCA1NM_007294.3(BRCA1): c.3820dupG (p.Val1274Glyfs)duplicationPathogenicrs80357616GRCh37Chr 17, 41243727: 41243728
1223BRCA1NM_007294.3(BRCA1): c.3839_3843delCTCAGinsAGGC (p.Ser1280Terfs)indelPathogenicrs273900717GRCh37Chr 17, 41243705: 41243709
1224BRCA1NM_007294.3(BRCA1): c.3841C> T (p.Gln1281Ter)single nucleotide variantPathogenicrs80356866GRCh37Chr 17, 41243707: 41243707
1225BRCA1NM_007294.3(BRCA1): c.3841_3842delCA (p.Gln1281Glyfs)deletionPathogenicrs80357584GRCh37Chr 17, 41243706: 41243707
1226BRCA1NM_007294.3(BRCA1): c.3856delA (p.Ser1286Valfs)deletionPathogenicrs80357855GRCh37Chr 17, 41243692: 41243692
1227BRCA1NM_007294.3(BRCA1): c.3862delG (p.Glu1288Lysfs)deletionPathogenicrs273900718GRCh37Chr 17, 41243686: 41243686
1228BRCA1NM_007294.3(BRCA1): c.3869_3870delAA (p.Lys1290Metfs)deletionPathogenicrs80357918GRCh37Chr 17, 41243678: 41243679
1229BRCA1NM_007294.3(BRCA1): c.3893C> A (p.Ser1298Ter)single nucleotide variantPathogenicrs80357440GRCh37Chr 17, 41243655: 41243655
1230BRCA1NM_007294.3(BRCA1): c.3895C> T (p.Gln1299Ter)single nucleotide variantPathogenicrs80357038GRCh37Chr 17, 41243653: 41243653
1231BRCA1NM_007294.3(BRCA1): c.3901_3902delAG (p.Ser1301Terfs)deletionPathogenicrs80357646GRCh37Chr 17, 41243646: 41243647
1232BRCA1NM_007294.3(BRCA1): c.3904G> T (p.Glu1302Ter)single nucleotide variantPathogenicrs80357461GRCh37Chr 17, 41243644: 41243644
1233BRCA1NM_007294.3(BRCA1): c.3916_3917delTT (p.Leu1306Aspfs)deletionPathogenicrs80357678GRCh37Chr 17, 41243631: 41243632
1234BRCA1NM_007294.3(BRCA1): c.391A> T (p.Arg131Ter)single nucleotide variantPathogenicrs80357207GRCh37Chr 17, 41256189: 41256189
1235BRCA1NM_007294.3(BRCA1): c.3931_3934delAACA (p.Asn1311Profs)deletionPathogenicrs80357864GRCh37Chr 17, 41243614: 41243617
1236BRCA1NM_007294.3(BRCA1): c.3932delA (p.Asn1311Thrfs)deletionPathogenicrs80357504GRCh37Chr 17, 41243616: 41243616
1237BRCA1NM_007294.3(BRCA1): c.3964A> T (p.Lys1322Ter)single nucleotide variantPathogenicrs80357343GRCh37Chr 17, 41243584: 41243584
1238BRCA1NM_007294.3(BRCA1): c.3966delA (p.Lys1322Asnfs)deletionPathogenicrs80357979GRCh37Chr 17, 41243582: 41243582
1239BRCA1NM_007294.3(BRCA1): c.3967C> T (p.Gln1323Ter)single nucleotide variantPathogenicrs80357262GRCh37Chr 17, 41243581: 41243581
1240BRCA1NM_007294.3(BRCA1): c.3972delG (p.Met1324Ilefs)deletionPathogenicrs80357987GRCh37Chr 17, 41243576: 41243576
1241BRCA1NM_007294.3(BRCA1): c.3973delA (p.Arg1325Glyfs)deletionPathogenicrs80357904GRCh37Chr 17, 41243575: 41243575
1242BRCA1NM_007294.3(BRCA1): c.3G> T (p.Met1Ile)single nucleotide variantPathogenicrs80357475GRCh37Chr 17, 41276111: 41276111
1243BRCA1NM_007294.3(BRCA1): c.4037_4038delAA (p.Gly1348Asnfs)deletionPathogenicrs273900721GRCh37Chr 17, 41243510: 41243511
1244BRCA1NM_007294.3(BRCA1): c.4041_4042delAG (p.Gly1348Asnfs)deletionPathogenicrs80357727GRCh37Chr 17, 41243506: 41243507
1245BRCA1NM_007294.3(BRCA1): c.4052T> A (p.Leu1351Ter)single nucleotide variantPathogenicrs397509132GRCh37Chr 17, 41243496: 41243496
1246BRCA1NM_007294.3(BRCA1): c.4052dupT (p.Leu1351Phefs)duplicationPathogenicrs80357779GRCh37Chr 17, 41243495: 41243496
1247BRCA1NM_007294.3(BRCA1): c.4057G> T (p.Glu1353Ter)single nucleotide variantPathogenicrs80357178GRCh37Chr 17, 41243491: 41243491
1248BRCA1NM_007294.3(BRCA1): c.406dupA (p.Arg136Lysfs)duplicationPathogenicrs80357709GRCh37Chr 17, 41256173: 41256174
1249BRCA1NM_007294.3(BRCA1): c.4075C> T (p.Gln1359Ter)single nucleotide variantPathogenicrs80357456GRCh37Chr 17, 41243473: 41243473
1250BRCA1NM_007294.3(BRCA1): c.4085delA (p.Asp1362Valfs)deletionPathogenicrs80357737GRCh37Chr 17, 41243463: 41243463
1251BRCA1NM_007294.3(BRCA1): c.4097-2A> Gsingle nucleotide variantPathogenicrs80358019GRCh37Chr 17, 41243051: 41243051
1252BRCA1NM_007294.3(BRCA1): c.4122_4123delTG (p.Ser1374Argfs)deletionPathogenicrs80357691GRCh37Chr 17, 41243023: 41243024
1253BRCA1NM_007294.3(BRCA1): c.4123G> T (p.Glu1375Ter)single nucleotide variantPathogenicrs80357397GRCh37Chr 17, 41243023: 41243023
1254BRCA1NM_007294.3(BRCA1): c.412_418delCTACAGA (p.Leu138Valfs)deletionPathogenicrs80357816GRCh37Chr 17, 41256162: 41256168
1255BRCA1NM_007294.3(BRCA1): c.415C> T (p.Gln139Ter)single nucleotide variantPathogenicrs80357372GRCh37Chr 17, 41256165: 41256165
1256BRCA1NM_007294.3(BRCA1): c.4161_4162delTC (p.Gln1388Glufs)deletionPathogenicrs80357565GRCh37Chr 17, 41242984: 41242985
1257BRCA1NM_007294.3(BRCA1): c.4163_4166delAGAG (p.Gln1388Leufs)deletionPathogenicrs80357532GRCh37Chr 17, 41242980: 41242983
1258BRCA1NM_007294.3(BRCA1): c.4165_4166delAG (p.Ser1389Terfs)deletionPathogenicrs80357572GRCh37Chr 17, 41242980: 41242981
1259BRCA1NM_007294.3(BRCA1): c.4167_4170delTGAC (p.Ser1389Argfs)deletionPathogenicrs80357538GRCh37Chr 17, 41242976: 41242979
1260BRCA1NM_007294.3(BRCA1): c.4183C> T (p.Gln1395Ter)single nucleotide variantPathogenicrs80357260GRCh37Chr 17, 41242963: 41242963
1261BRCA1NM_007294.3(BRCA1): c.4185+1G> Tsingle nucleotide variantPathogenicrs80358076GRCh37Chr 17, 41242960: 41242960
1262BRCA1NM_007294.3(BRCA1): c.4185G> A (p.Gln1395=)single nucleotide variantPathogenicrs80356857GRCh37Chr 17, 41242961: 41242961
1263BRCA1NM_007294.3(BRCA1): c.4186C> T (p.Gln1396Ter)single nucleotide variantPathogenicrs80357011GRCh37Chr 17, 41234592: 41234592
1264BRCA1NM_007294.3(BRCA1): c.4195_4196delAC (p.Thr1399Hisfs)deletionPathogenicrs80357649GRCh37Chr 17, 41234582: 41234583
1265BRCA1NM_007294.3(BRCA1): c.4201C> T (p.Gln1401Ter)single nucleotide variantPathogenicrs397509151GRCh37Chr 17, 41234577: 41234577
1266BRCA1NM_007294.3(BRCA1): c.4210delC (p.Leu1404Terfs)deletionPathogenicrs80357765GRCh37Chr 17, 41234568: 41234568
1267BRCA1NM_007294.3(BRCA1): c.4222C> T (p.Gln1408Ter)single nucleotide variantPathogenicrs80356989GRCh37Chr 17, 41234556: 41234556
1268BRCA1NM_007294.3(BRCA1): c.4258C> T (p.Gln1420Ter)single nucleotide variantPathogenicrs80357305GRCh37Chr 17, 41234520: 41234520
1269BRCA1NM_007294.3(BRCA1): c.4300dupA (p.Ser1434Lysfs)duplicationPathogenicrs80357790GRCh37Chr 17, 41234477: 41234478
1270BRCA1NM_007294.3(BRCA1): c.4321dupG (p.Asp1441Glyfs)duplicationPathogenicrs80357748GRCh37Chr 17, 41234456: 41234457
1271BRCA1NM_007294.3(BRCA1): c.4331_4338delATCCAGAA (p.Asn1444Thrfs)deletionPathogenicrs80357825GRCh37Chr 17, 41234440: 41234447
1272BRCA1NM_007294.3(BRCA1): c.4339C> T (p.Gln1447Ter)single nucleotide variantPathogenicrs80357067GRCh37Chr 17, 41234439: 41234439
1273BRCA1NM_007294.3(BRCA1): c.4357+1G> Csingle nucleotide variantPathogenicrs80358027GRCh37Chr 17, 41234420: 41234420
1274BRCA1NM_007294.3(BRCA1): c.4357+1G> Tsingle nucleotide variantPathogenicrs80358027GRCh37Chr 17, 41234420: 41234420
1275BRCA1NM_007294.3(BRCA1): c.4357+2T> Csingle nucleotide variantPathogenicrs80358152GRCh37Chr 17, 41234419: 41234419
1276BRCA1NM_007294.3(BRCA1): c.4370C> G (p.Ser1457Ter)single nucleotide variantPathogenicrs80357130GRCh37Chr 17, 41228619: 41228619
1277BRCA1NM_007294.3(BRCA1): c.4372C> T (p.Gln1458Ter)single nucleotide variantPathogenicrs80356932GRCh37Chr 17, 41228617: 41228617
1278BRCA1NM_007294.3(BRCA1): c.4389C> A (p.Tyr1463Ter)single nucleotide variantPathogenicrs80356997GRCh37Chr 17, 41228600: 41228600
1279BRCA1NM_007294.3(BRCA1): c.4391_4403delCTATAAGCCAGAAinsTT (p.Pro1464Leufs)indelPathogenicrs273900731GRCh37Chr 17, 41228586: 41228598
1280BRCA1NM_007294.3(BRCA1): c.4480G> T (p.Glu1494Ter)single nucleotide variantPathogenicrs80357148GRCh37Chr 17, 41228509: 41228509
1281BRCA1NM_007294.3(BRCA1): c.4485-1G> Asingle nucleotide variantPathogenicrs80358189GRCh37Chr 17, 41226539: 41226539
1282BRCA1NM_007294.3(BRCA1): c.4485-2A> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs80358054GRCh37Chr 17, 41226540: 41226540
1283BRCA1NM_007294.3(BRCA1): c.4487C> A (p.Ser1496Ter)single nucleotide variantPathogenicrs80356953GRCh37Chr 17, 41226536: 41226536
1284BRCA1NM_007294.3(BRCA1): c.4487C> G (p.Ser1496Ter)single nucleotide variantPathogenicrs80356953GRCh37Chr 17, 41226536: 41226536
1285BRCA1NM_007294.3(BRCA1): c.4508C> A (p.Ser1503Ter)single nucleotide variantPathogenicrs80357437GRCh37Chr 17, 41226515: 41226515
1286BRCA1NM_007294.3(BRCA1): c.4516delG (p.Asp1506Ilefs)deletionPathogenicrs273900736GRCh37Chr 17, 41226507: 41226507
1287BRCA1NM_007294.3(BRCA1): c.4524G> A (p.Trp1508Ter)single nucleotide variantPathogenicrs80356885GRCh37Chr 17, 41226499: 41226499
1288BRCA1NM_007294.3(BRCA1): c.4533_4534delCA (p.His1511Glnfs)deletionPathogenicrs80357534GRCh37Chr 17, 41226489: 41226490
1289BRCA1NM_007294.3(BRCA1): c.4552C> T (p.Gln1518Ter)single nucleotide variantPathogenicrs80356881GRCh37Chr 17, 41226471: 41226471
1290BRCA1NM_007294.3(BRCA1): c.4574_4575delAA (p.Gln1525Argfs)deletionPathogenicrs80357813GRCh37Chr 17, 41226448: 41226449
1291BRCA1NM_007294.3(BRCA1): c.4595_4596insCT (p.Asp1533Leufs)insertionPathogenicrs80357699GRCh37Chr 17, 41226427: 41226428
1292BRCA1NM_007294.3(BRCA1): c.4603G> T (p.Glu1535Ter)single nucleotide variantPathogenicrs80357366GRCh37Chr 17, 41226420: 41226420
1293BRCA1NM_007294.3(BRCA1): c.4609C> T (p.Gln1537Ter)single nucleotide variantPathogenicrs80357229GRCh37Chr 17, 41226414: 41226414
1294BRCA1NM_007294.3(BRCA1): c.4611_4612insG (p.Gln1538Alafs)insertionPathogenicrs80357915GRCh37Chr 17, 41226411: 41226412
1295BRCA1NM_007294.3(BRCA1): c.4612C> T (p.Gln1538Ter)single nucleotide variantPathogenicrs80356992GRCh37Chr 17, 41226411: 41226411
1296BRCA1NM_007294.3(BRCA1): c.4618G> T (p.Glu1540Ter)single nucleotide variantPathogenicrs80357277GRCh37Chr 17, 41226405: 41226405
1297BRCA1NM_007294.3(BRCA1): c.4621G> T (p.Glu1541Ter)single nucleotide variantPathogenicrs80357248GRCh37Chr 17, 41226402: 41226402
1298BRCA1NM_007294.3(BRCA1): c.4625_4626delCT (p.Ser1542Trpfs)deletionPathogenicrs80357542GRCh37Chr 17, 41226397: 41226398
1299BRCA1NM_007294.3(BRCA1): c.4655_4658delACTT (p.Tyr1552Cysfs)deletionPathogenicrs80357561GRCh37Chr 17, 41226365: 41226368
1300BRCA1NM_007294.3(BRCA1): c.4675+1G> Asingle nucleotide variantPathogenicrs80358044GRCh37Chr 17, 41226347: 41226347
1301BRCA1NM_007294.3(BRCA1): c.4678G> T (p.Gly1560Ter)single nucleotide variantPathogenicrs80357349GRCh37Chr 17, 41223253: 41223253
1302BRCA1NM_007294.3(BRCA1): c.4712_4716delTCTCT (p.Phe1571Terfs)deletionPathogenicrs80357718GRCh37Chr 17, 41223215: 41223219
1303BRCA1NM_007294.3(BRCA1): c.4745delA (p.Asp1582Alafs)deletionPathogenicrs80357907GRCh37Chr 17, 41223186: 41223186
1304BRCA1NM_007294.3(BRCA1): c.4754_4755delCA (p.Pro1585Argfs)deletionPathogenicrs80357837GRCh37Chr 17, 41223176: 41223177
1305BRCA1NM_007294.3(BRCA1): c.4801A> T (p.Lys1601Ter)single nucleotide variantPathogenicrs80357303GRCh37Chr 17, 41223130: 41223130
1306BRCA1NM_007294.3(BRCA1): c.4810C> T (p.Gln1604Ter)single nucleotide variantPathogenicrs80357352GRCh37Chr 17, 41223121: 41223121
1307BRCA1NM_007294.3(BRCA1): c.485_486delTG (p.Val162Glufs)deletionPathogenicrs80357708GRCh37Chr 17, 41251853: 41251854
1308BRCA1NM_007294.3(BRCA1): c.4903G> T (p.Glu1635Ter)single nucleotide variantPathogenicrs200432771GRCh37Chr 17, 41223028: 41223028
1309BRCA1NM_007294.3(BRCA1): c.4936delG (p.Val1646Serfs)deletionPathogenicrs80357705GRCh37Chr 17, 41222995: 41222995
1310BRCA1NM_007294.3(BRCA1): c.493delC (p.Leu165Terfs)deletionPathogenicrs80357551GRCh37Chr 17, 41251846: 41251846
1311BRCA1NM_007294.3(BRCA1): c.4941delC (p.Asn1647Lysfs)deletionPathogenicrs80357905GRCh37Chr 17, 41222990: 41222990
1312BRCA1NM_007294.3(BRCA1): c.494dupT (p.Arg166Glufs)duplicationPathogenicrs80357762GRCh37Chr 17, 41251844: 41251845
1313BRCA1NM_007294.3(BRCA1): c.4981G> T (p.Glu1661Ter)single nucleotide variantPathogenicrs80357401GRCh37Chr 17, 41222950: 41222950
1314BRCA1NM_007294.3(BRCA1): c.4986+4A> Tsingle nucleotide variantPathogenicrs80358087GRCh37Chr 17, 41222941: 41222941
1315BRCA1NM_007294.3(BRCA1): c.4986+6T> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs80358086GRCh37Chr 17, 41222939: 41222939
1316BRCA1NM_007294.3(BRCA1): c.4999A> T (p.Lys1667Ter)single nucleotide variantPathogenicrs80357204GRCh37Chr 17, 41219700: 41219700
1317BRCA1NM_007294.3(BRCA1): c.5005delG (p.Ala1669Profs)deletionPathogenicrs80357938GRCh37Chr 17, 41219694: 41219694
1318BRCA1NM_007294.3(BRCA1): c.5026_5036delTTAACTAATCT (p.Leu1676Asnfs)deletionPathogenicrs80357894GRCh37Chr 17, 41219663: 41219673
1319BRCA1NM_007294.3(BRCA1): c.5035delC (p.Leu1679Terfs)deletionPathogenicrs80357896GRCh37Chr 17, 41219664: 41219664
1320BRCA1NM_007294.3(BRCA1): c.5040delT (p.Thr1681Leufs)deletionPathogenicrs80357673GRCh37Chr 17, 41219659: 41219659
1321BRCA1NM_007294.3(BRCA1): c.5047G> T (p.Glu1683Ter)single nucleotide variantPathogenicrs80356879GRCh37Chr 17, 41219652: 41219652
1322BRCA1NM_007294.3(BRCA1): c.505C> T (p.Gln169Ter)single nucleotide variantPathogenicrs80357133GRCh37Chr 17, 41251834: 41251834
1323BRCA1NM_007294.3(BRCA1): c.5062_5064delGTT (p.Val1688del)deletionPathogenicrs80358344GRCh37Chr 17, 41219635: 41219637
1324BRCA1NM_007294.3(BRCA1): c.5071dupA (p.Thr1691Asnfs)duplicationPathogenicrs80357672GRCh37Chr 17, 41219627: 41219628
1325BRCA1NM_007294.3(BRCA1): c.5074G> T (p.Asp1692Tyr)single nucleotide variantPathogenicrs80187739GRCh37Chr 17, 41219625: 41219625
1326BRCA1NM_007294.3(BRCA1): c.5075-1G> Asingle nucleotide variantPathogenicrs1800747GRCh37Chr 17, 41215969: 41215969
1327BRCA1NM_007294.3(BRCA1): c.5075-2A> Csingle nucleotide variantPathogenicrs80358066GRCh37Chr 17, 41215970: 41215970
1328BRCA1NM_007294.3(BRCA1): c.5075-2A> Tsingle nucleotide variantPathogenicrs80358066GRCh37Chr 17, 41215970: 41215970
1329BRCA1NM_007294.3(BRCA1): c.5080G> T (p.Glu1694Ter)single nucleotide variantPathogenicrs80356896GRCh37Chr 17, 41215963: 41215963
1330BRCA1NM_007294.3(BRCA1): c.5084_5085delTT (p.Phe1695Cysfs)deletionPathogenicrs80357760GRCh37Chr 17, 41215958: 41215959
1331BRCA1NM_007294.3(BRCA1): c.5091_5092delTG (p.Cys1697Terfs)deletionPathogenicrs80357710GRCh37Chr 17, 41215951: 41215952
1332BRCA1NM_007294.3(BRCA1): c.5102_5103delTG (p.Leu1701Glnfs)deletionPathogenicrs80357608GRCh37Chr 17, 41215940: 41215941
1333BRCA1NM_007294.3(BRCA1): c.5106delA (p.Lys1702Asnfs)deletionPathogenicrs80357553GRCh37Chr 17, 41215937: 41215937
1334BRCA1NM_007294.3(BRCA1): c.5109T> G (p.Tyr1703Ter)single nucleotide variantPathogenicrs80356974GRCh37Chr 17, 41215934: 41215934
1335BRCA1NM_007294.3(BRCA1): c.5112delT (p.Leu1705Terfs)deletionPathogenicrs397509228GRCh37Chr 17, 41215931: 41215931
1336BRCA1NM_007294.3(BRCA1): c.5123C> A (p.Ala1708Glu)single nucleotide variantPathogenicrs28897696GRCh37Chr 17, 41215920: 41215920
1337BRCA1NM_007294.3(BRCA1): c.5126delG (p.Gly1709Glufs)deletionPathogenicrs80357874GRCh37Chr 17, 41215917: 41215917
1338BRCA1NM_007294.3(BRCA1): c.5136G> A (p.Trp1712Ter)single nucleotide variantPathogenicrs80357418GRCh37Chr 17, 41215907: 41215907
1339BRCA1NM_007294.3(BRCA1): c.5143A> T (p.Ser1715Cys)single nucleotide variantLikely pathogenicrs80357222GRCh37Chr 17, 41215900: 41215900
1340BRCA1NM_007294.3(BRCA1): c.514C> T (p.Gln172Ter)single nucleotide variantPathogenicrs80356947GRCh37Chr 17, 41251825: 41251825
1341BRCA1NM_007294.3(BRCA1): c.514delC (p.Gln172Asnfs)deletionPathogenicrs80357872GRCh37Chr 17, 41251825: 41251825
1342BRCA1NM_007294.3(BRCA1): c.5150delT (p.Phe1717Serfs)deletionPathogenicrs80357720GRCh37Chr 17, 41215893: 41215893
1343BRCA1NM_007294.3(BRCA1): c.5152+3A> Csingle nucleotide variantPathogenicrs80358124GRCh37Chr 17, 41215888: 41215888
1344BRCA1NM_007294.3(BRCA1): c.5152+5G> Asingle nucleotide variantLikely pathogenicrs80358165GRCh37Chr 17, 41215886: 41215886
1345BRCA1NM_007294.3(BRCA1): c.5153-1G> Asingle nucleotide variantPathogenicrs80358137GRCh37Chr 17, 41215391: 41215391
1346BRCA1NM_007294.3(BRCA1): c.5153-2delAdeletionPathogenicrs273901746GRCh37Chr 17, 41215392: 41215392
1347BRCA1NM_007294.3(BRCA1): c.5153G> A (p.Trp1718Ter)single nucleotide variantPathogenicrs41293461GRCh37Chr 17, 41215390: 41215390
1348BRCA1NM_007294.3(BRCA1): c.5154G> A (p.Trp1718Ter)single nucleotide variantPathogenicrs80357239GRCh37Chr 17, 41215389: 41215389
1349BRCA1NM_007294.3(BRCA1): c.5154G> T (p.Trp1718Cys)single nucleotide variantLikely pathogenicrs80357239GRCh37Chr 17, 41215389: 41215389
1350BRCA1NM_007294.3(BRCA1): c.5155delG (p.Val1719Terfs)deletionPathogenicrs80357743GRCh37Chr 17, 41215388: 41215388
1351BRCA1NM_007294.3(BRCA1): c.5156_5157delTG (p.Val1719Aspfs)deletionPathogenicrs80357895GRCh37Chr 17, 41215386: 41215387
1352BRCA1NM_007294.3(BRCA1): c.5165C> T (p.Ser1722Phe)single nucleotide variantPathogenicrs80357104GRCh37Chr 17, 41215378: 41215378
1353BRCA1NM_007294.3(BRCA1): c.5173G> T (p.Glu1725Ter)single nucleotide variantPathogenicrs80357291GRCh37Chr 17, 41215370: 41215370
1354BRCA1NM_007294.3(BRCA1): c.5177_5178delGA (p.Arg1726Lysfs)deletionPathogenicrs80357730GRCh37Chr 17, 41215365: 41215366
1355BRCA1NM_007294.3(BRCA1): c.5193+1G> Csingle nucleotide variantPathogenicrs80358004GRCh37Chr 17, 41215349: 41215349
1356BRCA1NM_007294.3(BRCA1): c.5193+2delTdeletionPathogenicrs273901751GRCh37Chr 17, 41215348: 41215348
1357BRCA1NM_007294.3(BRCA1): c.5209A> T (p.Arg1737Ter)single nucleotide variantPathogenicrs80357496GRCh37Chr 17, 41209137: 41209137
1358BRCA1NM_007294.3(BRCA1): c.5209_5248del40insTC (p.Arg1737Serfs)indelPathogenicrs273901753GRCh37Chr 17, 41209098: 41209137
1359BRCA1NM_007294.3(BRCA1): c.520delC (p.Gln174Lysfs)deletionPathogenicrs80357639GRCh37Chr 17, 41251819: 41251819
1360BRCA1NM_007294.3(BRCA1): c.5213G> A (p.Gly1738Glu)single nucleotide variantLikely pathogenicrs80357450GRCh37Chr 17, 41209133: 41209133
1361BRCA1NM_007294.3(BRCA1): c.5229_5230delAA (p.Arg1744Lysfs)deletionPathogenicrs80357852GRCh37Chr 17, 41209116: 41209117
1362BRCA1NM_007294.3(BRCA1): c.5239C> T (p.Gln1747Ter)single nucleotide variantPathogenicrs80357367GRCh37Chr 17, 41209107: 41209107
1363BRCA1NM_007294.3(BRCA1): c.5243delG (p.Gly1748Valfs)deletionPathogenicrs80357676GRCh37Chr 17, 41209103: 41209103
1364BRCA1NM_007294.3(BRCA1): c.5251C> T (p.Arg1751Ter)single nucleotide variantPathogenicrs80357123GRCh37Chr 17, 41209095: 41209095
1365BRCA1NM_007294.3(BRCA1): c.5260G> T (p.Glu1754Ter)single nucleotide variantPathogenicrs80357432GRCh37Chr 17, 41209086: 41209086
1366BRCA1NM_007294.3(BRCA1): c.5274delA (p.Lys1759Argfs)deletionPathogenicrs80357732GRCh37Chr 17, 41209072: 41209072
1367BRCA1NM_007294.3(BRCA1): c.5277G> A (p.Lys1759=)single nucleotide variantPathogenicrs80356854GRCh37Chr 17, 41209069: 41209069
1368BRCA1NM_007294.3(BRCA1): c.5278-1G> Asingle nucleotide variantPathogenicrs80358099GRCh37Chr 17, 41203135: 41203135
1369BRCA1NM_007294.3(BRCA1): c.5278-1G> Csingle nucleotide variantPathogenicrs80358099GRCh37Chr 17, 41203135: 41203135
1370BRCA1NM_007294.3(BRCA1): c.5278-1G> Tsingle nucleotide variantPathogenicrs80358099GRCh37Chr 17, 41203135: 41203135
1371BRCA1NM_007294.3(BRCA1): c.5284delA (p.Arg1762Glyfs)deletionPathogenicrs80357684GRCh37Chr 17, 41203128: 41203128
1372BRCA1NM_007294.3(BRCA1): c.529delT (p.Ser177Leufs)deletionPathogenicrs80357758GRCh37Chr 17, 41251810: 41251810
1373BRCA1NM_007294.3(BRCA1): c.5320_5321delAA (p.Asn1774Hisfs)deletionPathogenicrs80357818GRCh37Chr 17, 41203091: 41203092
1374BRCA1NM_007294.3(BRCA1): c.5328dupC (p.Thr1777Hisfs)duplicationPathogenicrs80357751GRCh37Chr 17, 41203083: 41203084
1375BRCA1NM_007294.3(BRCA1): c.5332+1G> Asingle nucleotide variantPathogenicrs80358041GRCh37Chr 17, 41203079: 41203079
1376BRCA1NM_007294.3(BRCA1): c.5333-1G> Csingle nucleotide variantPathogenicrs80358126GRCh37Chr 17, 41201212: 41201212
1377BRCA1NM_007294.3(BRCA1): c.5333-2A> Tsingle nucleotide variantLikely pathogenicrs397509264GRCh37Chr 17, 41201213: 41201213
1378BRCA1NM_007294.3(BRCA1): c.5341G> T (p.Glu1781Ter)single nucleotide variantPathogenicrs397509268GRCh37Chr 17, 41201203: 41201203
1379BRCA1NM_007294.3(BRCA1): c.5341delG (p.Glu1781Asnfs)deletionPathogenicrs80357694GRCh37Chr 17, 41201203: 41201203
1380BRCA1NM_007294.3(BRCA1): c.5345G> A (p.Trp1782Ter)single nucleotide variantPathogenicrs80357219GRCh37Chr 17, 41201199: 41201199
1381BRCA1NM_007294.3(BRCA1): c.5353C> T (p.Gln1785Ter)single nucleotide variantPathogenicrs80356969GRCh37Chr 17, 41201191: 41201191
1382BRCA1NM_007294.3(BRCA1): c.5359T> A (p.Cys1787Ser)single nucleotide variantPathogenicrs80357065GRCh37Chr 17, 41201185: 41201185
1383BRCA1NM_007294.3(BRCA1): c.5363G> A (p.Gly1788Asp)single nucleotide variantPathogenicrs80357069GRCh37Chr 17, 41201181: 41201181
1384BRCA1NM_007294.3(BRCA1): c.5406+5G> Asingle nucleotide variantPathogenicrs80358073GRCh37Chr 17, 41201133: 41201133
1385BRCA1NM_007294.3(BRCA1): c.5407-2A> Gsingle nucleotide variantPathogenicrs80358002GRCh37Chr 17, 41199722: 41199722
1386BRCA1NM_007294.3(BRCA1): c.5440delG (p.Ala1814Profs)deletionPathogenicrs80357946GRCh37Chr 17, 41199687: 41199687
1387BRCA1NM_007294.3(BRCA1): c.5444G> A (p.Trp1815Ter)single nucleotide variantPathogenicrs80356962GRCh37Chr 17, 41199683: 41199683
1388BRCA1NM_007294.3(BRCA1): c.5445G> A (p.Trp1815Ter)single nucleotide variantPathogenicrs397509284GRCh37Chr 17, 41199682: 41199682
1389BRCA1NM_007294.3(BRCA1): c.5449G> T (p.Glu1817Ter)single nucleotide variantPathogenicrs80356868GRCh37Chr 17, 41199678: 41199678
1390BRCA1NM_007294.3(BRCA1): c.547+1G> Tsingle nucleotide variantPathogenicrs80358030GRCh37Chr 17, 41251791: 41251791
1391BRCA1NM_007294.3(BRCA1): c.5470_5477delATTGGGCA (p.Ile1824Aspfs)deletionPathogenicrs80357973GRCh37Chr 17, 41197810: 41197817
1392BRCA1NM_007294.3(BRCA1): c.5492delC (p.Pro1831Leufs)deletionPathogenicrs80357582GRCh37Chr 17, 41197795: 41197795
1393BRCA1NM_007294.3(BRCA1): c.5496_5506delGGTGACCCGAGinsA (p.Val1833Serfs)indelPathogenicrs273902775GRCh37Chr 17, 41197781: 41197791
1394BRCA1NM_007294.3(BRCA1): c.5497G> A (p.Val1833Met)single nucleotide variantLikely pathogenic, Pathogenicrs80357268GRCh37Chr 17, 41197790: 41197790
1395BRCA1NM_007294.3(BRCA1): c.5503C> T (p.Arg1835Ter)single nucleotide variantPathogenicrs41293465GRCh37Chr 17, 41197784: 41197784
1396BRCA1NM_007294.3(BRCA1): c.5503_5564del62 (p.Arg1835Thrfs)deletionPathogenicrs80359883GRCh37Chr 17, 41197723: 41197784
1397BRCA1NM_007294.3(BRCA1): c.5506G> T (p.Glu1836Ter)single nucleotide variantPathogenicrs80356942GRCh37Chr 17, 41197781: 41197781
1398BRCA1NM_007294.3(BRCA1): c.5510G> A (p.Trp1837Ter)single nucleotide variantPathogenicrs80357307GRCh37Chr 17, 41197777: 41197777
1399BRCA1NM_007294.3(BRCA1): c.5511G> A (p.Trp1837Ter)single nucleotide variantPathogenicrs80356914GRCh37Chr 17, 41197776: 41197776
1400BRCA1NM_007294.3(BRCA1): c.5521delA (p.Ser1841Valfs)deletionPathogenicrs80357721GRCh37Chr 17, 41197766: 41197766
1401BRCA1NM_007294.3(BRCA1): c.5535C> A (p.Tyr1845Ter)single nucleotide variantPathogenicrs80356977GRCh37Chr 17, 41197752: 41197752
1402BRCA1NM_007294.3(BRCA1): c.5536C> T (p.Gln1846Ter)single nucleotide variantPathogenicrs80356873GRCh37Chr 17, 41197751: 41197751
1403BRCA1NM_007294.3(BRCA1): c.5541C> A (p.Cys1847Ter)single nucleotide variantPathogenicrs397509295GRCh37Chr 17, 41197746: 41197746
1404BRCA1NM_007294.3(BRCA1): c.5559C> A (p.Tyr1853Ter)single nucleotide variantPathogenicrs80357336GRCh37Chr 17, 41197728: 41197728
1405BRCA1NM_007294.3(BRCA1): c.64delT (p.Leu22Terfs)deletionPathogenicrs80357803GRCh37Chr 17, 41276050: 41276050
1406BRCA1NM_007294.3(BRCA1): c.668delA (p.Lys223Argfs)deletionPathogenicrs80357745GRCh37Chr 17, 41247865: 41247865
1407BRCA1NM_007294.3(BRCA1): c.671-2A> Csingle nucleotide variantPathogenicrs80358108GRCh37Chr 17, 41246879: 41246879
1408BRCA1NM_007294.3(BRCA1): c.685delT (p.Ser229Leufs)deletionPathogenicrs80357824GRCh37Chr 17, 41246863: 41246863
1409BRCA1NM_007294.3(BRCA1): c.70_80delTGTCCCATCTG (p.Cys24Serfs)deletionPathogenicrs80359877GRCh37Chr 17, 41276034: 41276044
1410BRCA1NM_007294.3(BRCA1): c.731delA (p.Asn244Metfs)deletionPathogenicrs80357700GRCh37Chr 17, 41246817: 41246817
1411BRCA1NM_007294.3(BRCA1): c.73_74delCC (p.Pro25Hisfs)deletionPathogenicrs80357633GRCh37Chr 17, 41276040: 41276041
1412BRCA1NM_007294.3(BRCA1): c.763G> T (p.Glu255Ter)single nucleotide variantPathogenicrs80357009GRCh37Chr 17, 41246785: 41246785
1413BRCA1NM_007294.3(BRCA1): c.775delG (p.Glu259Lysfs)deletionPathogenicrs80357628GRCh37Chr 17, 41246773: 41246773
1414BRCA1NM_007294.3(BRCA1): c.791_794delGTTC (p.Ser264Metfs)deletionPathogenicrs80357707GRCh37Chr 17, 41246754: 41246757
1415BRCA1NM_007294.3(BRCA1): c.794_795delCT (p.Ser265Cysfs)deletionPathogenicrs80357955GRCh37Chr 17, 41246753: 41246754
1416BRCA1NM_007294.3(BRCA1): c.80+1G> Asingle nucleotide variantPathogenicrs80358010GRCh37Chr 17, 41276033: 41276033
1417BRCA1NM_007294.3(BRCA1): c.800C> G (p.Ser267Ter)single nucleotide variantPathogenicrs80357392GRCh37Chr 17, 41246748: 41246748
1418BRCA1NM_007294.3(BRCA1): c.809delA (p.His270Leufs)deletionPathogenicrs80357965GRCh37Chr 17, 41246739: 41246739
1419BRCA1NM_007294.3(BRCA1): c.81-2delAdeletionPathogenicrs273902791GRCh37Chr 17, 41267798: 41267798
1420BRCA1NM_007294.3(BRCA1): c.815_824dupAGCCATGTGG (p.Thr276Alafs)duplicationPathogenicrs387906563GRCh37Chr 17, 41246724: 41246733
1421BRCA1NM_007294.3(BRCA1): c.822T> A (p.Cys274Ter)single nucleotide variantPathogenicrs80357331GRCh37Chr 17, 41246726: 41246726
1422BRCA1NM_007294.3(BRCA1): c.835delC (p.His279Metfs)deletionPathogenicrs80357523GRCh37Chr 17, 41246713: 41246713
1423BRCA1NM_007294.3(BRCA1): c.83_84delTG (p.Leu28Argfs)deletionPathogenicrs80357728GRCh37Chr 17, 41267793: 41267794
1424BRCA1NM_007294.3(BRCA1): c.844_850dupTCATTAC (p.Gln284Leufs)duplicationPathogenicrs80357989GRCh37Chr 17, 41246698: 41246704
1425BRCA1NM_007294.3(BRCA1): c.848T> A (p.Leu283Ter)single nucleotide variantPathogenicrs273902792GRCh37Chr 17, 41246700: 41246700
1426BRCA1NM_007294.3(BRCA1): c.851_852delAG (p.Gln284Profs)deletionPathogenicrs80357719GRCh37Chr 17, 41246696: 41246697
1427BRCA1NM_007294.3(BRCA1): c.895_896delGT (p.Val299Argfs)deletionPathogenicrs80357670GRCh37Chr 17, 41246652: 41246653
1428BRCA1NM_007294.3(BRCA1): c.904delG (p.Ala302Leufs)deletionPathogenicrs273903793GRCh37Chr 17, 41246644: 41246644
1429BRCA1NM_007294.3(BRCA1): c.911delT (p.Phe304Serfs)deletionPathogenicrs80357622GRCh37Chr 17, 41246637: 41246637
1430BRCA1NM_007294.3(BRCA1): c.922_923delAG (p.Ser308Glnfs)deletionPathogenicrs80357644GRCh37Chr 17, 41246625: 41246626
1431BRCA1NM_007294.3(BRCA1): c.922_924delAGCinsT (p.Ser308Terfs)indelPathogenicrs397509335GRCh37Chr 17, 41246624: 41246626
1432BRCA1NM_007294.3(BRCA1): c.923delG (p.Ser308Thrfs)deletionPathogenicrs80357953GRCh37Chr 17, 41246625: 41246625
1433BRCA1NM_007294.3(BRCA1): c.930delG (p.Gln310Hisfs)deletionPathogenicrs80357689GRCh37Chr 17, 41246618: 41246618
1434BRCA1NM_007294.3(BRCA1): c.949C> T (p.Gln317Ter)single nucleotide variantPathogenicrs80357211GRCh37Chr 17, 41246599: 41246599
1435BRCA1NM_007294.3(BRCA1): c.949_953delCAACA (p.Gln317Terfs)deletionPathogenicrs80357555GRCh37Chr 17, 41246595: 41246599
1436BRCA1NM_007294.3(BRCA1): c.959_960delGA (p.Arg320Metfs)deletionPathogenicrs397509339GRCh37Chr 17, 41246588: 41246589
1437BRCA1NM_007294.3(BRCA1): c.964delG (p.Ala322Leufs)deletionPathogenicrs273903794GRCh37Chr 17, 41246584: 41246584
1438BRCA1NM_007294.3(BRCA1): c.980_981delCA (p.Thr327Metfs)deletionPathogenicrs80357610GRCh37Chr 17, 41246567: 41246568
1439BRCA1NM_007294.3(BRCA1): c.981_982delAT (p.Cys328Terfs)deletionPathogenicrs80357772GRCh37Chr 17, 41246566: 41246567
1440BRCA2NM_000059.3(BRCA2): c.1321dupA (p.Thr441Asnfs)duplicationPathogenicrs80359281GRCh37Chr 13, 32906936: 32906937
1441BRCA2NM_000059.3(BRCA2): c.2834_2835delAA (p.Lys945Argfs)deletionPathogenicrs80359356GRCh37Chr 13, 32911326: 32911327
1442TSG101TSG101, VAL-ALA, 1162T-Csingle nucleotide variantPathogenic
1443BRCA2NM_000059.3(BRCA2): c.1817_1819delCGAinsTTT (p.Pro606_Lys607delinsLeuTer)indelPathogenicGRCh37Chr 13, 32907432: 32907434
1444BRCA2NM_000059.3(BRCA2): c.3075_3076delGAinsTT (p.Lys1025_Lys1026delinsAsnTer)indelPathogenicGRCh37Chr 13, 32911567: 32911568
1445BRCA2NM_000059.3(BRCA2): c.5195delT (p.Leu1732Profs)deletionPathogenicGRCh37Chr 13, 32913687: 32913687
1446BRCA2NM_000059.3(BRCA2): c.5364dupC (p.Lys1789Glnfs)duplicationPathogenicGRCh37Chr 13, 32913856: 32913856
1447BRCA1NM_007294.3(BRCA1): c.135-?_441+?deldeletionPathogenicGRCh37Chr 17, 41256139: 41258550
1448BRCA1NM_007294.3(BRCA1): c.4186-?_4675+?deldeletionPathogenicGRCh37Chr 17, 41242961: 41223255
1449BRCA1NM_007294.3(BRCA1): c.4186-?_4986+?deldeletionPathogenicGRCh37Chr 17, 41222945: 41234592
1450BRCA1NM_007294.3(BRCA1): c.4358-?_5277+?deldeletionPathogenicGRCh37Chr 17, 41234421: 41203134
1451BRCA1NM_007294.3(BRCA1): c.4485-?_4986+?deldeletionPathogenicGRCh37Chr 17, 41222945: 41226538
1452BRCA1NM_007294.3(BRCA1): c.4987-?_5074+?deldeletionPathogenicGRCh37Chr 17, 41222945: 41215968
1453BRCA1NM_007294.3(BRCA1): c.?-232_4484+?deldeletionPathogenicGRCh37Chr 17, 41277500: 41228505
1454BRCA1NM_007294.3(BRCA1): c.548-?_5193+?deldeletionPathogenicGRCh37Chr 17, 41251792: 41215390
1455BRCA2NM_000059.3(BRCA2): c.3904_3906delACT (p.Thr1302del)deletionPathogenicrs80359414GRCh37Chr 13, 32912396: 32912398
1456BRCA2NM_000059.3(BRCA2): c.5946delT (p.Ser1982Argfs)deletionPathogenic, risk factorrs80359550GRCh37Chr 13, 32914438: 32914438
1457BRCA2NM_000059.3(BRCA2): c.771_775delTCAAA (p.Asn257Lysfs)deletionPathogenicrs80359675GRCh37Chr 13, 32905145: 32905149
1458BRCA2NM_000059.3(BRCA2): c.8165C> G (p.Thr2722Arg)single nucleotide variantPathogenicrs80359062GRCh37Chr 13, 32937504: 32937504
1459BRCA2NM_000059.3(BRCA2): c.658_659delGT (p.Val220Ilefs)deletionPathogenic, risk factorrs80359604GRCh37Chr 13, 32903606: 32903607
1460BRCA2NM_000059.3(BRCA2): c.8219T> A (p.Leu2740Ter)single nucleotide variantPathogenicrs80359070GRCh37Chr 13, 32937558: 32937558
1461BRCA2NM_000059.3(BRCA2): c.4648G> T (p.Glu1550Ter)single nucleotide variantPathogenicrs80358695GRCh37Chr 13, 32913140: 32913140
1462BRCA2NM_000059.3(BRCA2): c.7529T> C (p.Leu2510Pro)single nucleotide variantPathogenicrs80358979GRCh37Chr 13, 32930658: 32930658
1463BRCA2NM_000059.3(BRCA2): c.5645C> G (p.Ser1882Ter)single nucleotide variantPathogenic, risk factorrs80358785GRCh37Chr 13, 32914137: 32914137
1464BRCA2NM_000059.3(BRCA2): c.9196C> T (p.Gln3066Ter)single nucleotide variantPathogenicrs80359180GRCh37Chr 13, 32954222: 32954222
1465BRCA2NM_000059.3(BRCA2): c.631+1G> Asingle nucleotide variantPathogenicrs81002897GRCh37Chr 13, 32900751: 32900751
1466BRCA2NM_000059.3(BRCA2): c.631+2T> Gsingle nucleotide variantPathogenicrs81002899GRCh37Chr 13, 32900752: 32900752

Cosmic variations for Breast Cancer:

7 (show all 49)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
1776PIK3CAbreast,NS,carcinoma,lobular carcinoma3
2757PIK3CAbreast,NS,carcinoma,lobular carcinoma3
329328PIK3CAbreast,NS,carcinoma,lobular carcinoma3
4762PIK3CAbreast,NS,carcinoma,lobular carcinoma3
5760PIK3CAbreast,NS,carcinoma,lobular carcinoma3
6764PIK3CAbreast,NS,carcinoma,lobular carcinoma3
712592PIK3CAbreast,NS,carcinoma,lobular carcinoma3
8746PIK3CAbreast,NS,carcinoma,lobular carcinoma3
9775PIK3CAbreast,NS,carcinoma,lobular carcinoma3
1029325PIK3CAbreast,NS,carcinoma,lobular carcinoma3
11763PIK3CAbreast,NS,carcinoma,lobular carcinoma3
1210725TP53breast,NS,carcinoma,lobular carcinoma3
1311552TP53breast,NS,carcinoma,lobular carcinoma3
1411196TP53breast,NS,carcinoma,lobular carcinoma3
1510648TP53breast,NS,carcinoma,lobular carcinoma3
1610662TP53breast,NS,carcinoma,lobular carcinoma3
1710726TP53breast,NS,carcinoma,lobular carcinoma3
1843606TP53breast,NS,carcinoma,lobular carcinoma3
1910768TP53breast,NS,carcinoma,lobular carcinoma3
2010722TP53breast,NS,carcinoma,lobular carcinoma3
2110728TP53breast,NS,carcinoma,lobular carcinoma3
2243695TP53breast,NS,carcinoma,lobular carcinoma3
2314060ERBB2breast,NS,carcinoma,lobular carcinoma3
2448358ERBB2breast,NS,carcinoma,lobular carcinoma3
2514065ERBB2breast,NS,carcinoma,lobular carcinoma3
2651317ERBB2breast,NS,carcinoma,lobular carcinoma3
27518KRASbreast,NS,carcinoma,lobular carcinoma3
28527KRASbreast,NS,carcinoma,lobular carcinoma3
296163FGFR4breast,NS,carcinoma,lobular carcinoma3
30625EPHA6breast,NS,carcinoma,lobular carcinoma3
31131776ERBB4breast,NS,carcinoma,lobular carcinoma3
32133666BRCA1breast,NS,carcinoma,lobular carcinoma3
3333765AKT1breast,NS,carcinoma,lobular carcinoma3
34616ATMbreast,NS,carcinoma,lobular carcinoma3
35617ATRbreast,NS,carcinoma,lobular carcinoma3
3620783CDH1breast,NS,carcinoma,lobular carcinoma3
37599EPHA1breast,NS,carcinoma,lobular carcinoma3
38607MAP3K12breast,NS,carcinoma,lobular carcinoma3
39647SMG1breast,NS,carcinoma,lobular carcinoma3
4051315RASEFbreast,NS,carcinoma,lobular carcinoma3
41649SNRKbreast,NS,carcinoma,lobular carcinoma3
4217721VHLbreast,NS,carcinoma,lobular carcinoma3
43163487PIK3CBbreast,NS,carcinoma,lobular carcinoma3
44612NTRK3breast,NS,carcinoma,lobular carcinoma3
45162148LHCGRbreast,NS,carcinoma,lobular carcinoma3
46605LYNbreast,NS,carcinoma,lobular carcinoma3
47637WNK1breast,NS,carcinoma,lobular carcinoma3
48162696MXI1breast,NS,carcinoma,lobular carcinoma3
4951310LEPREL1breast,NS,carcinoma,lobular carcinoma3

Expression for genes affiliated with Breast Cancer

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LifeMap Discovery
Genes differentially expressed in tissues of Breast Cancer patients vs. healthy controls: 30 (show all 72)
id Gene Description Tissue Up/Dn Fold Change (log2) P value
1ACTN3actinin, alpha 3Skeletal Muscle-5.490.000
2TOP2Atopoisomerase (DNA) II alpha 170kDaBreast+5.440.005
3ARHGAP36Rho GTPase activating protein 36Breast-5.160.008
4ATP1A2ATPase, Na+/K+ transporting, alpha 2 polypeptideBreast-5.040.000
5KRT14keratin 14Breast-4.980.000
6SCGB1D2secretoglobin, family 1D, member 2Breast-4.970.005
7THSD7Bthrombospondin, type I, domain containing 7BBreast-4.960.000
8MUCL1mucin-like 1Breast-4.910.013
9KRT5keratin 5Breast-4.840.001
10KRT16keratin 16Breast-4.780.000
11COL11A1collagen, type XI, alpha 1Breast+4.670.001
12COL17A1collagen, type XVII, alpha 1Breast-4.390.000
13SCGB2A2secretoglobin, family 2A, member 2Breast-4.380.005
14MYBPC1myosin binding protein C, slow typeBreast-4.380.001
15PLEKHS1pleckstrin homology domain containing, family S member 1Breast-4.290.006
16VTCN1V-set domain containing T cell activation inhibitor 1Breast-4.280.005
17PIGRpolymeric immunoglobulin receptorBreast-4.260.003
18ASPMasp (abnormal spindle) homolog, microcephaly associated (Drosophila)Breast+4.260.031
19SERPINB5serpin peptidase inhibitor, clade B (ovalbumin), member 5Breast-4.240.000
20FOSBFBJ murine osteosarcoma viral oncogene homolog BBreast-4.230.001
21KRT15keratin 15Breast-4.190.010
22MYH3myosin, heavy chain 3, skeletal muscle, embryonicSkeletal Muscle+4.140.000
23KRT17keratin 17Breast-4.080.001
24COL1A2collagen, type I, alpha 2Breast+4.040.007
25PDLIM3PDZ and LIM domain 3Breast-4.040.008
26EGR3early growth response 3Blood+4.040.001
27TFPI2tissue factor pathway inhibitor 2Breast-4.010.015
28PPP4R4protein phosphatase 4, regulatory subunit 4