MCID: HRD004
MIFTS: 48

Hereditary Breast Ovarian Cancer malady

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

Aliases & Classifications for Hereditary Breast Ovarian Cancer

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Sources:
9Disease Ontology, 11DISEASES, 47Orphanet, 38NCIt, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Hereditary Breast Ovarian Cancer, Aliases & Descriptions:

Name: Hereditary Breast Ovarian Cancer 9 11
Hereditary Breast and Ovarian Cancer Syndrome 47
 
Brca1 9
Brca2 9


Classifications:



Characteristics (Orphanet epidemiological data):

47
hereditary breast and ovarian cancer syndrome:
Inheritance: Autosomal dominant; Age of onset: All ages


External Ids:

Disease Ontology9 DOID:5683
NCIt38 C8493
Orphanet47 145
ICD10 via Orphanet26 C50, C56
UMLS via Orphanet61 C0677776

Summaries for Hereditary Breast Ovarian Cancer

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Disease Ontology:9 An autosomal dominant disease characterized by the higher than normal tendency to develop breast and ovarian cancers in genetically related families.

MalaCards based summary: Hereditary Breast Ovarian Cancer, also known as hereditary breast and ovarian cancer syndrome, is related to breast cancer and brca1 and brca2 hereditary breast and ovarian cancer. An important gene associated with Hereditary Breast Ovarian Cancer is BRCA1 (breast cancer 1, early onset), and among its related pathways are DNA damage DNA damage induced responses and FOXM1 transcription factor network. The compounds daidzein and 8-oxoguanine have been mentioned in the context of this disorder. Affiliated tissues include breast, testes and ovary, and related mouse phenotypes are endocrine/exocrine gland and limbs/digits/tail.

Wikipedia:63 Hereditary breast?ovarian cancer syndromes (HBOC) are cancer syndromes that produce higher than normal... more...

Related Diseases for Hereditary Breast Ovarian Cancer

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Diseases in the Hereditary Breast Ovarian Cancer family:

Breast-Ovarian Cancer, Familial 4 Breast-Ovarian Cancer, Familial 3
Breast-Ovarian Cancer, Familial, 2 Breast-Ovarian Cancer, Familial, 1
Rad51c-Related Familial Susceptibility to Breast-Ovarian Cancer Rad51d-Related Familial Susceptibility to Breast-Ovarian Cancer

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

(show top 50)    (show all 132)
idRelated DiseaseScoreTop Affiliating Genes
1breast cancer32.9BRCA1, BRCA2
2brca1 and brca2 hereditary breast and ovarian cancer32.0BRCA2, BRCA1
3fallopian tube cancer30.9BRCA2, BRCA1
4pancreatic cancer30.9RAD51, BRCA1, BRCA2
5ductal carcinoma in situ30.9BRCA2, BRCA1
6lynch syndrome30.9BRCA1, BRCA2
7prostate cancer30.9PTEN, BRCA2, BRCA1, CHEK2, RAD51
8peritoneal carcinoma30.9BRCA2, BRCA1
9bilateral breast cancer30.8BRCA2, BRCA1, CHEK2, RAD51
10li-fraumeni syndrome30.6BRCA1, BRCA2
11dysgerminoma30.6BRCA1, BRCA2
12gynecomastia30.4BRCA2, BRCA1
13fanconi anemia, complementation group a30.4BRIP1, BRCA2, PALB2
14endometrial cancer30.4PTEN, BRCA2, BRCA1
15bloom syndrome30.2BRCA2, BRCA1, RAD51
16colorectal cancer30.1PTEN, BRCA2, BRCA1, CHEK2, RAD51
17cowden disease30.1BRCA1, BRCA2, PTEN
18stomach cancer29.8NBN, PTEN, CHEK2, RAD50
19leukemia29.7NBN, BRCA2, BRCA1, CHEK2, RAD51
20werner syndrome29.7MRE11A, NBN, BRCA1
21adenocarcinoma29.6MRE11A, PTEN, BRCA2, BRCA1, CHEK2, RAD51
22ataxia-telangiectasia29.6MRE11A, NBN, BRCA2, BRCA1, CHEK2, RAD51
23nijmegen breakage syndrome29.3MRE11A, NBN, BRCA1, CHEK2, RAD50
24ovarian cancer, somatic29.1PALB2, BRCA1, BRCA2, BRIP1, PTEN, NBN
25breast-ovarian cancer, familial, 211.6
26breast-ovarian cancer, familial, 111.6
27brca2 hereditary breast and ovarian cancer11.6
28familial breast cancer11.5
29hereditary breast cancer11.5
30prostatitis10.7
31fanconi anemia, complementation group d110.7
32sporadic breast cancer10.5
33wilms tumor10.4
34medulloblastoma10.4
35glioblastoma 310.4
36brca1 hereditary breast and ovarian cancer10.4
37glioblastoma10.4
38pancreatic cancer 410.3
39insulin-like growth factor i10.3
40esophagitis10.3
41melanoma10.3
42ocular melanoma10.3
43hypoxia10.3
44papillary serous adenocarcinoma10.3
45pancreatitis10.3
46breast reconstruction10.2
47endotheliitis10.2
48inherited cancer-predisposing syndrome due to biallelic brca2 mutations10.2
49esophageal cancer10.1
50growth hormone deficiency, isolated, type ia10.1

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



Diseases related to hereditary breast ovarian cancer

Symptoms for Hereditary Breast Ovarian Cancer

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Drugs & Therapeutics for Hereditary Breast Ovarian Cancer

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Drug clinical trials:

Search ClinicalTrials for Hereditary Breast Ovarian Cancer

Search NIH Clinical Center for Hereditary Breast Ovarian Cancer

Genetic Tests for Hereditary Breast Ovarian Cancer

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Anatomical Context for Hereditary Breast Ovarian Cancer

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MalaCards organs/tissues related to Hereditary Breast Ovarian Cancer:

31
Breast, Testes, Ovary, Heart

Animal Models for Hereditary Breast Ovarian Cancer or affiliated genes

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Publications for Hereditary Breast Ovarian Cancer

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Articles related to Hereditary Breast Ovarian Cancer:

(show top 50)    (show all 66)
idTitleAuthorsYear
1
Endometrial cancers in mutation carriers from hereditary breast ovarian cancer syndrome kindreds: report from the creighton university hereditary cancer registry with review of the implications. (25756400)
2015
2
Genetic counseling does not fulfill the counselees' need for certainty in hereditary breast/ovarian cancer families: an explorative assessment. (22777929)
2013
3
Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases. (23935836)
2013
4
Hereditary breast/ovarian cancer syndrome: a primer for obstetricians/gynecologists. (24021253)
2013
5
Unpacking the blockers: understanding perceptions and social constraints of health communication in hereditary breast ovarian cancer (HBOC) susceptibility families. (21547418)
2011
6
Comprehensive genetic characterization of hereditary breast/ovarian cancer families from Slovakia. (21203900)
2011
7
Hereditary breast-ovarian cancer syndrome in Russia. (22649661)
2010
8
Coronary heart disease risk profile in women who underwent salpingo-oophorectomy to prevent hereditary breast ovarian cancer. (20169665)
2010
9
Hereditary breast ovarian cancer syndromes in the Maritimes. (20181317)
2010
10
Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control. (23199084)
2010
11
Metabolic syndrome after risk-reducing salpingo-oophorectomy in women at high risk for hereditary breast ovarian cancer: a controlled observational study. (19008092)
2009
12
The prevalence of hereditary breast/ovarian cancer risk in patients with a history of breast or ovarian cancer in Japanese subjects. (20149041)
2009
13
Brief assessment of parents' attitudes toward testing minor children for hereditary breast/ovarian cancer genes: development and validation of the Pediatric BRCA1/2 Testing Attitudes Scale (P-TAS). (18385162)
2009
14
A controlled study of mental distress and somatic complaints after risk-reducing salpingo-oophorectomy in women at risk for hereditary breast ovarian cancer. (19178933)
2009
15
Fatigue and quality of life after risk-reducing salpingo-oophorectomy in women at increased risk for hereditary breast-ovarian cancer. (19820364)
2009
16
Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central Italy. (18821011)
2009
17
BRCA1 and BRCA2 risk perceptions among African American women at increased risk for hereditary breast-ovarian cancer. (18417966)
2008
18
Cross-sectional analysis of germline BRCA1 and BRCA2 mutations in Japanese patients suspected to have hereditary breast/ovarian cancer. (19016756)
2008
19
Hereditary breast/ovarian cancer: clinicopathological characteristics and survival of BRCA2 positive and negative cases. (19066131)
2008
20
Psychological and cancer-specific distress at 18 months post-testing in women with demonstrated BRCA1 mutations for hereditary breast/ovarian cancer. (18219587)
2008
21
Hereditary breast-ovarian cancer: clinical findings and medical management. (17901820)
2007
22
A novel BRCA1 mutation in an Indian family with hereditary breast/ovarian cancer. (17131039)
2007
23
Patient responses to the disclosure of BRCA mutation tests in hereditary breast-ovarian cancer families. (16527602)
2006
24
Low rates of acceptance of BRCA1 and BRCA2 test results among African American women at increased risk for hereditary breast-ovarian cancer. (16980814)
2006
25
Clinical, molecular and geographical features of hereditary breast/ovarian cancer in latvia. (20223033)
2005
26
Hereditary Breast-Ovarian Cancer Team of the University Medical Centre Groningen (UMCG) - a Report. (20223045)
2005
27
Re: "Intra-abdominal carcinomatosis after prophylactic oophorectomy in women of hereditary breast ovarian cancer syndrome kindreds associated with BRCA1 and BRCA2 mutations". (16188301)
2005
28
Surveillance behavior and prophylactic surgery after predictive testing for hereditary breast/ovarian cancer. (16252621)
2005
29
The effect of experiential knowledge on construction of risk perception in hereditary breast/ovarian cancer. (15789156)
2005
30
Prevalence of five previously reported and recurrent BRCA1 genetic rearrangement mutations in 20,000 patients from hereditary breast/ovarian cancer families. (15846789)
2005
31
Intra-abdominal carcinomatosis after prophylactic oophorectomy in women of hereditary breast ovarian cancer syndrome kindreds associated with BRCA1 and BRCA2 mutations. (15863145)
2005
32
Advocate's Viewpoint on Hereditary Breast/Ovarian Cancer. (20233464)
2004
33
Carrier risk status changes resulting from mutation testing in hereditary non-polyposis colorectal cancer and hereditary breast-ovarian cancer. (12920070)
2003
34
Hereditary breast-ovarian cancer at the bedside: role of the medical oncologist. (12586815)
2003
35
Contribution of BRCA2 germline mutations to hereditary breast/ovarian cancer in Germany. (11897832)
2002
36
Genetic counseling in hereditary breast/ovarian cancer in Israel: psychosocial impact and retention of genetic information. (12210341)
2002
37
Hereditary breast/ovarian cancer--pitfalls in genetic counseling. (11683778)
2001
38
Men at risk of being a mutation carrier for hereditary breast/ovarian cancer: an exploration of attitudes and psychological functioning during genetic testing. (11464240)
2001
39
Histology of prophylactically removed ovaries from BRCA1 and BRCA2 mutation carriers compared with noncarriers in hereditary breast ovarian cancer syndrome kindreds. (10985881)
2000
40
Physicians' attitudes towards mammography and prophylactic surgery for hereditary breast/ovarian cancer risk and subsequently published guidelines. (10780786)
2000
41
Congress report of the Sixth International Meeting on Psychosocial Aspects of Hereditary Breast/Ovarian Cancer Genetic Testing. (11180590)
2000
42
Attitudes toward prophylactic oophorectomy and screening utilization in women at increased risk of developing hereditary breast/ovarian cancer. (10502438)
1999
43
Acceptable strategies for dealing with hereditary breast/ovarian cancer risk. (9168189)
1997
44
German family study on hereditary breast-ovarian cancer. (8863152)
1996
45
BRCA1 testing in families with hereditary breast-ovarian cancer. A prospective study of patient decision making and outcomes. (8648868)
1996
46
Insurance adjudication favoring prophylactic surgery in hereditary breast-ovarian cancer syndrome. (7705697)
1995
47
Splice-site mutation of the p53 gene in a family with hereditary breast-ovarian cancer. (8302608)
1994
48
The human insulin-like growth factor-binding protein 4 gene maps to chromosome region 17q12-q21.1 and is close to the gene for hereditary breast-ovarian cancer. (7507078)
1993
49
Hereditary breast-ovarian cancer: how can we use the new DNA markers to improve patient management? (8306541)
1993
50
Genetic counselling and hereditary breast ovarian cancer. (1349410)
1992

Variations for Hereditary Breast Ovarian Cancer

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Clinvar genetic disease variations for Hereditary Breast Ovarian Cancer:

6 (show all 1,829)
id Gene Variation Type Significance SNP ID Assembly Location
1BRCA1undetermined variantPathogenic
2BRCA1undetermined variantPathogenic
3BRCA1undetermined variantPathogenic
4BRCA1NM_007294.3(BRCA1): c.882delA (p.Asp295Thrfs)deletionPathogenicrs80357587GRCh38Chr 17, 43094649: 43094649
5BRCA1undetermined variantPathogenic
6BRCA1NM_007294.3(BRCA1): c.894_895delTG (p.Val299Argfs)deletionPathogenicrs80357759GRCh38Chr 17, 43094636: 43094637
7BRCA1NM_007294.3(BRCA1): c.895_896insAATG (p.Val299Glufs)insertionPathogenicrs80357806GRCh37Chr 17, 41246652: 41246653
8BRCA1NM_007294.3(BRCA1): c.902_903insT (p.Lys301Asnfs)insertionPathogenicrs80357726GRCh38Chr 17, 43094628: 43094629
9BRCA1NM_007294.3(BRCA1): c.953_954insTG (p.Asn319Valfs)insertionPathogenicrs80357690GRCh37Chr 17, 41246594: 41246595
10BRCA1NM_007294.3(BRCA1): c.984_985insC (p.Asn329Glnfs)insertionPathogenicrs80357775GRCh37Chr 17, 41246563: 41246564
11BRCA1NM_007294.3(BRCA1): c.1010delA (p.Lys339Argfs)deletionPathogenicrs80357911GRCh38Chr 17, 43094521: 43094521
12BRCA1NM_007294.3(BRCA1): c.1101_1102insC (p.Glu368Argfs)insertionPathogenicrs80357665GRCh38Chr 17, 43094429: 43094430
13BRCA1NM_007294.3(BRCA1): c.1129dupA (p.Ser377Lysfs)duplicationPathogenicrs80357776GRCh38Chr 17, 43094401: 43094402
14BRCA1NM_007294.3(BRCA1): c.19_47del29 (p.Arg7Cysfs)deletionPathogenicrs80359871GRCh38Chr 17, 43124050: 43124078
15BRCA1NM_007294.3(BRCA1): c.1356delA (p.Glu453Argfs)deletionPathogenicrs80357939GRCh38Chr 17, 43094175: 43094175
16BRCA1U14680.1: n.1506AtoGinsGinsertionPathogenic
17BRCA1NM_007294.3(BRCA1): c.1387delA (p.Thr464Profs)deletionPathogenicrs273897658GRCh38Chr 17, 43094144: 43094144
18BRCA1NM_007294.3(BRCA1): c.1392dupC (p.Tyr465Leufs)duplicationPathogenicrs80357592GRCh37Chr 17, 41246155: 41246156
19BRCA1NM_007294.3(BRCA1): c.1440_1441insA (p.Leu481Thrfs)insertionPathogenicrs80357778GRCh38Chr 17, 43094090: 43094091
20BRCA1NM_007294.3(BRCA1): c.1462dupA (p.Thr488Asnfs)duplicationPathogenicrs80357599GRCh38Chr 17, 43094068: 43094069
21BRCA1NM_007294.3(BRCA1): c.1518delG (p.Arg507Aspfs)deletionPathogenicrs80357947GRCh38Chr 17, 43094013: 43094013
22BRCA1NM_007294.3(BRCA1): c.1561_1562delGCinsTA (p.Ala521Ter)indelPathogenicrs273897663GRCh38Chr 17, 43093968: 43093970
23BRCA1NM_007294.3(BRCA1): c.1582_1588delACTCCTG (p.Thr528Lysfs)deletionPathogenicrs80357613GRCh38Chr 17, 43093943: 43093949
24BRCA1NM_007294.3: c.1637_1685del49ins5indelPathogenicGRCh37Chr 17, 41245863: 41245911
25BRCA1NM_007294.3(BRCA1): c.1695dupG (p.Lys566Glufs)duplicationPathogenicrs273897664GRCh38Chr 17, 43093835: 43093836
26BRCA1NM_007294.3(BRCA1): c.1700dupA (p.Asn567Lysfs)duplicationPathogenicrs80357784GRCh38Chr 17, 43093830: 43093831
27BRCA1NM_007294.3(BRCA1): c.65_66insTT (p.Leu22Phefs)insertionPathogenicrs80357642GRCh38Chr 17, 43124031: 43124032
28BRCA1NM_007294.3(BRCA1): c.69_79delGTGTCCCATCT (p.Cys24Serfs)deletionPathogenicrs80357696GRCh38Chr 17, 43124018: 43124028
29BRCA1NM_007294.3(BRCA1): c.70_71insA (p.Cys24Terfs)insertionPathogenicrs80357536GRCh38Chr 17, 43124026: 43124027
30BRCA1NM_007294.3(BRCA1): c.70_71insTGTC (p.Cys24Leufs)insertionPathogenicrs80357536GRCh37Chr 17, 41276043: 41276044
31BRCA1NM_007294.3(BRCA1): c.1812delA (p.Ala605Hisfs)deletionPathogenicrs80357927GRCh38Chr 17, 43093719: 43093719
32BRCA1NM_007294.3(BRCA1): c.1821_1824delAAAG (p.Lys608Ilefs)deletionPathogenicrs80357585GRCh38Chr 17, 43093707: 43093710
33BRCA1NM_007294.3(BRCA1): c.80+1G> Csingle nucleotide variantPathogenicrs80358010GRCh37Chr 17, 41276033: 41276033
34BRCA1NM_007294.3(BRCA1): c.80+1G> Tsingle nucleotide variantPathogenicrs80358010GRCh38Chr 17, 43124016: 43124016
35BRCA1NM_007294.3(BRCA1): c.80+2T> Gsingle nucleotide variantPathogenicrs80358128GRCh37Chr 17, 41276032: 41276032
36BRCA1NM_007294.3(BRCA1): c.1893_1894insT (p.Ser632Terfs)insertionPathogenicrs80357768GRCh38Chr 17, 43093637: 43093638
37BRCA1NM_007294.3(BRCA1): c.2038_2039insCC (p.Lys680Thrfs)insertionPathogenicrs80357940GRCh38Chr 17, 43093492: 43093493
38BRCA1NM_007294.3(BRCA1): c.2068delA (p.Arg691Aspfs)deletionPathogenicrs80357733GRCh37Chr 17, 41245480: 41245480
39BRCA1NM_007294.3(BRCA1): c.2077_2078insTA (p.Asp693Valfs)insertionPathogenicrs80357595GRCh37Chr 17, 41245470: 41245471
40BRCA1NM_007294.3(BRCA1): c.2156dupA (p.Glu720Argfs)duplicationPathogenicrs80357715GRCh38Chr 17, 43093375: 43093376
41BRCA1U14680.1: n.2294delGdeletionPathogenic
42BRCA1NM_007294.3(BRCA1): c.2188dupG (p.Glu730Glyfs)duplicationPathogenicrs80357566GRCh37Chr 17, 41245359: 41245360
43BRCA1NM_007294.3(BRCA1): c.2193_2197delAGAAG (p.Glu733Thrfs)deletionPathogenicrs80357507GRCh37Chr 17, 41245351: 41245355
44BRCA1NM_007294.3(BRCA1): c.2194_2198delGAAGA (p.Glu733Thrfs)deletionPathogenicrs80357755GRCh37Chr 17, 41245350: 41245354
45BRCA1NM_007294.3(BRCA1): c.2195_2199delAAGAG (p.Glu733Thrfs)deletionPathogenicrs80357771GRCh37Chr 17, 41245349: 41245353
46BRCA1NM_007294.3(BRCA1): c.2214delT (p.Val740Cysfs)deletionPathogenicrs80357574GRCh38Chr 17, 43093317: 43093317
47BRCA1NM_007294.3(BRCA1): c.2215_2216insCT (p.Lys739Thrfs)insertionPathogenicrs80357930GRCh37Chr 17, 41245332: 41245333
48BRCA1NM_007294.3(BRCA1): c.2217dupA (p.Val740Serfs)duplicationPathogenicrs80357802GRCh38Chr 17, 43093313: 43093314
49BRCA1NM_007294.3(BRCA1): c.2256_2257insTA (p.Ser753Terfs)insertionPathogenicrs80357557GRCh38Chr 17, 43093274: 43093275
50BRCA1NM_007294.3(BRCA1): c.2273dupT (p.Leu758Phefs)duplicationPathogenicrs80357681GRCh38Chr 17, 43093257: 43093258
51BRCA1NM_007294.3(BRCA1): c.2309C> T (p.Ser770Leu)single nucleotide variantPathogenicrs80357063GRCh38Chr 17, 43093222: 43093222
52BRCA1NM_007294.3(BRCA1): c.2337_2338delTC (p.Gln780Glyfs)deletionPathogenicrs80357515GRCh38Chr 17, 43093193: 43093194
53BRCA1NM_007294.3(BRCA1): c.2355dupA (p.Leu786Thrfs)duplicationPathogenicrs80357990GRCh37Chr 17, 41245192: 41245193
54BRCA1U14680.1: n.2494delCdeletionPathogenic
55BRCA1NM_007294.3(BRCA1): c.2376delG (p.Lys793Argfs)deletionPathogenicrs80357913GRCh38Chr 17, 43093155: 43093155
56BRCA1NM_007294.3(BRCA1): c.2401_2402delTG (p.Val802Glufs)deletionPathogenicrs80357999GRCh38Chr 17, 43093129: 43093130
57BRCA1U14680.1: n.252_256del5insTinsertionPathogenic
58BRCA1NM_007294.3(BRCA1): c.134+1G> Csingle nucleotide variantPathogenicrs80358043GRCh38Chr 17, 43115725: 43115725
59BRCA1NM_007294.3(BRCA1): c.135-2A> Gsingle nucleotide variantPathogenicrs80358065GRCh38Chr 17, 43106535: 43106535
60BRCA1NM_007294.3(BRCA1): c.2438dupG (p.Leu814Thrfs)duplicationPathogenicrs80357503GRCh37Chr 17, 41245109: 41245110
61BRCA1NM_007294.3(BRCA1): c.139dupT (p.Cys47Leufs)duplicationPathogenicrs80357734GRCh38Chr 17, 43106528: 43106529
62BRCA1NM_007294.3(BRCA1): c.2474dupA (p.Asp825Glufs)duplicationPathogenicrs80357830GRCh38Chr 17, 43093056: 43093057
63BRCA1U14680.1: n.2607dupAAGTATCCATduplicationPathogenic
64BRCA1NM_007294.3(BRCA1): c.2561_2562insGC (p.Gln855Leufs)insertionPathogenicrs80357968GRCh37Chr 17, 41244986: 41244987
65BRCA1NM_007294.3(BRCA1): c.2586_2593delGGTTTCAA (p.Val863Alafs)deletionPathogenicrs80357675GRCh38Chr 17, 43092938: 43092945
66BRCA1NM_007294.3(BRCA1): c.2592delA (p.Lys865Serfs)deletionPathogenicrs80357756GRCh38Chr 17, 43092939: 43092939
67BRCA1NM_007294.3(BRCA1): c.2604_2605insGTCA (p.Phe869Valfs)insertionPathogenicrs80357603GRCh38Chr 17, 43092926: 43092927
68BRCA1NM_007294.3(BRCA1): c.2658_2659insA (p.Ala887Serfs)insertionPathogenicrs80357541GRCh38Chr 17, 43092872: 43092873
69BRCA1NM_007294.3(BRCA1): c.2676_2679delAAAG (p.Lys893Asnfs)deletionPathogenicrs80357891GRCh37Chr 17, 41244869: 41244872
70BRCA1NM_007294.3(BRCA1): c.2686delA (p.Ser896Valfs)deletionPathogenicrs273899687GRCh37Chr 17, 41244862: 41244862
71BRCA1NM_007294.3(BRCA1): c.2691dupA (p.Val899Serfs)duplicationPathogenicrs80357549GRCh37Chr 17, 41244857: 41244858
72BRCA1NM_007294.3(BRCA1): c.2700_2701delTT (p.Phe901Terfs)deletionPathogenicrs80357899GRCh38Chr 17, 43092830: 43092831
73BRCA1NM_007294.3(BRCA1): c.2724_2728delAAATC (p.Asn909Argfs)deletionPathogenicrs80357712GRCh38Chr 17, 43092803: 43092807
74BRCA1NM_007294.3(BRCA1): c.2725_2728delAATC (p.Asn909Lysfs)deletionPathogenicrs80357917GRCh37Chr 17, 41244820: 41244823
75BRCA1NM_007294.3(BRCA1): c.166_167insGA (p.Lys56Argfs)insertionPathogenicrs80357550GRCh37Chr 17, 41258518: 41258519
76BRCA1NM_007294.3(BRCA1): c.171delG (p.Pro58Leufs)deletionPathogenicrs80357660GRCh38Chr 17, 43106497: 43106497
77BRCA1NM_007294.3(BRCA1): c.2799delT (p.Gln934Argfs)deletionPathogenicrs80357998GRCh38Chr 17, 43092732: 43092732
78BRCA1NM_007294.3(BRCA1): c.2863_2867delTCATC (p.Ser956Valfs)deletionPathogenicrs80357819GRCh38Chr 17, 43092664: 43092668
79BRCA1NM_007294.3(BRCA1): c.2868delT (p.Gln957Serfs)deletionPathogenicrs80357929GRCh37Chr 17, 41244680: 41244680
80BRCA1NM_007294.3(BRCA1): c.2871_2872insA (p.Phe958Ilefs)insertionPathogenicrs80357693GRCh37Chr 17, 41244676: 41244677
81BRCA1NM_007294.3(BRCA1): c.2889_2890delTG (p.Gly964Thrfs)deletionPathogenicrs80357890GRCh37Chr 17, 41244658: 41244659
82BRCA1NM_007294.3(BRCA1): c.2995_2996delCTinsTA (p.Leu999Ter)indelPathogenicrs273899692GRCh38Chr 17, 43092534: 43092536
83BRCA1NM_007294.3(BRCA1): c.3016_3019delCATT (p.His1006Glnfs)deletionPathogenicrs80357994GRCh38Chr 17, 43092512: 43092515
84BRCA1NM_007294.3(BRCA1): c.3053_3054insTGAGA (p.Ile1019Glufs)insertionPathogenicrs80357547GRCh38Chr 17, 43092477: 43092478
85BRCA1NM_007294.3(BRCA1): c.3100_3101insTAACATTAGAGAAA (p.Asn1034Ilefs)insertionPathogenicrs80357967GRCh37Chr 17, 41244447: 41244448
86BRCA1NM_007294.3(BRCA1): c.3105dupT (p.Lys1037Terfs)duplicationPathogenicrs273899699GRCh38Chr 17, 43092426: 43092427
87BRCA1NM_007294.3(BRCA1): c.204dupA (p.Thr69Asnfs)duplicationPathogenicrs273898673GRCh37Chr 17, 41258481: 41258482
88BRCA1NM_007294.3(BRCA1): c.3114_3117delAGCCinsGA (p.Ala1039Lysfs)indelPathogenicrs273899700GRCh37Chr 17, 41244430: 41244434
89BRCA1U14680.1: n.3235_3238delCAGCdeletionPathogenic
90BRCA1NM_007294.3(BRCA1): c.3158_3159insG (p.Val1054Serfs)insertionPathogenicrs80357769GRCh38Chr 17, 43092372: 43092373
91BRCA1U14680.1: n.331+1G> A,del22deletionPathogenic
92BRCA1NM_007294.3(BRCA1): c.3194_3195insG (p.Asp1065Glufs)insertionPathogenicrs80357883GRCh37Chr 17, 41244353: 41244354
93BRCA1NM_007294.3(BRCA1): c.213-3C> Gsingle nucleotide variantPathogenicrs80358119GRCh37Chr 17, 41256976: 41256976
94BRCA1NM_007294.3(BRCA1): c.3256_3257insGA (p.Leu1086Terfs)insertionPathogenicrs80357764GRCh38Chr 17, 43092274: 43092275
95BRCA1NM_007294.3: c.3288_3289ins46insertionPathogenicGRCh38Chr 17, 43092242: 43092243
96BRCA1NM_007294.3(BRCA1): c.3320_3323delAAAT (p.Ile1108Lysfs)deletionPathogenicrs80357763GRCh37Chr 17, 41244225: 41244228
97BRCA1NM_007294.3(BRCA1): c.3328_3331delAAGC (p.Gln1111Asnfs)deletionPathogenicrs80357777GRCh37Chr 17, 41244217: 41244220
98BRCA1NM_007294.3(BRCA1): c.3329_3332delAGCA (p.Gln1111Asnfs)deletionPathogenicrs80357701GRCh38Chr 17, 43092199: 43092202
99BRCA1NM_007294.3(BRCA1): c.3330_3331insA (p.Gln1111Thrfs)insertionPathogenicrs80357996GRCh38Chr 17, 43092200: 43092201
100BRCA1NM_007294.3(BRCA1): c.3351dupT (p.Gln1118Serfs)duplicationPathogenicrs80357785GRCh37Chr 17, 41244196: 41244197
101BRCA1NM_007294.3(BRCA1): c.3357delT (p.Val1120Leufs)deletionPathogenicrs80357827GRCh37Chr 17, 41244191: 41244191
102BRCA1NM_007294.3(BRCA1): c.3462dupA (p.Asp1155Argfs)duplicationPathogenicrs80357857GRCh38Chr 17, 43092068: 43092069
103BRCA1NM_007294.3(BRCA1): c.3479_3489delAGGAAGATACT (p.Glu1161Phefs)deletionPathogenicrs80357910GRCh38Chr 17, 43092042: 43092052
104BRCA1NM_007294.3: c.3516_3517ins100insertionPathogenicGRCh38Chr 17, 43092014: 43092015
105BRCA1NM_007294.3(BRCA1): c.3548_3549delAA (p.Lys1183Argfs)deletionPathogenicrs80357956GRCh38Chr 17, 43091982: 43091983
106BRCA1NM_007294.3: c.3571_3572ins4insertionPathogenicGRCh37Chr 17, 41243976: 41243977
107BRCA1NM_007294.3(BRCA1): c.3581delC (p.His1195Ilefs)deletionPathogenicrs273900710GRCh37Chr 17, 41243967: 41243967
108BRCA1U14680.1: n.3702delAdeletionPathogenic
109BRCA1NM_007294.3(BRCA1): c.3593_3594insTT (p.Leu1198Phefs)insertionPathogenicrs80357562GRCh38Chr 17, 43091937: 43091938
110BRCA1NM_007294.3(BRCA1): c.3620dupA (p.Lys1208Glufs)duplicationPathogenicrs80357926GRCh38Chr 17, 43091910: 43091911
111BRCA1NM_007294.3(BRCA1): c.3623dupA (p.Leu1209Ilefs)duplicationPathogenicrs80357512GRCh38Chr 17, 43091908: 43091909
112BRCA1NM_007294.3(BRCA1): c.3649_3650insA (p.Ser1217Tyrfs)insertionPathogenicrs80357831GRCh38Chr 17, 43091881: 43091882
113BRCA1NM_007294.3(BRCA1): c.3755_3758delTGTC (p.Ser1253Argfs)deletionPathogenicrs80357963GRCh38Chr 17, 43091773: 43091776
114BRCA1NM_007294.3(BRCA1): c.3761_3762delAG (p.Asn1255Hisfs)deletionPathogenicrs80357645GRCh38Chr 17, 43091769: 43091770
115BRCA1NM_007294.3(BRCA1): c.3766dupA (p.Thr1256Asnfs)duplicationPathogenicrs80357704GRCh38Chr 17, 43091764: 43091765
116BRCA1NM_007294.3(BRCA1): c.3771_3772delGG (p.Asn1259Phefs)deletionPathogenicrs80357810GRCh38Chr 17, 43091759: 43091760
117BRCA1NM_007294.3(BRCA1): c.3777delT (p.Leu1260Tyrfs)deletionPathogenicrs80357798GRCh38Chr 17, 43091754: 43091754
118BRCA1NM_007294.3(BRCA1): c.3778_3779insA (p.Leu1260Tyrfs)insertionPathogenicrs80357849GRCh38Chr 17, 43091752: 43091753
119BRCA1NM_007294.3(BRCA1): c.3830dupC (p.Ala1279Glyfs)duplicationPathogenicrs80357878GRCh38Chr 17, 43091700: 43091701
120BRCA1NM_007294.3(BRCA1): c.3856_3859delAGTG (p.Ser1286Argfs)deletionPathogenicrs80357842GRCh37Chr 17, 41243689: 41243692
121BRCA1NM_007294.3(BRCA1): c.3867_3871delAAAAT (p.Lys1290Phefs)deletionPathogenicrs80357560GRCh38Chr 17, 43091660: 43091664
122BRCA1NM_007294.3(BRCA1): c.3908dupT (p.Leu1303Phefs)duplicationPathogenicrs80357634GRCh37Chr 17, 41243639: 41243640
123BRCA1NM_007294.3: c.288_292delCACAGins7indelPathogenicGRCh37Chr 17, 41256894: 41256898
124BRCA1NM_007294.3: c.301+2_301+3insTinsertionPathogenicrs273899694GRCh38Chr 17, 43104865: 43104866
125BRCA1NM_007294.3(BRCA1): c.302-1G> Tsingle nucleotide variantPathogenicrs80358116GRCh38Chr 17, 43104262: 43104262
126BRCA1NM_007294.3(BRCA1): c.302-2A> Tsingle nucleotide variantPathogenicrs80358011GRCh37Chr 17, 41256280: 41256280
127BRCA1NM_007294.3: c.302-2_302-1delAGdeletionPathogenicGRCh38Chr 17, 43104262: 43104263
128BRCA1NM_007294.3(BRCA1): c.4110_4111delTG (p.Gly1371Valfs)deletionPathogenicrs80357529GRCh37Chr 17, 41243035: 41243036
129BRCA1NM_007294.3(BRCA1): c.4111_4112insATCT (p.Gly1371Aspfs)insertionPathogenicrs80357935GRCh38Chr 17, 43091017: 43091018
130BRCA1NM_007294.3(BRCA1): c.4113delG (p.Cys1372Valfs)deletionPathogenicrs80357861GRCh37Chr 17, 41243033: 41243033
131BRCA1NM_007294.3(BRCA1): c.4163dupA (p.Ser1389Glufs)duplicationPathogenicrs80357788GRCh37Chr 17, 41242982: 41242983
132BRCA1NM_007294.3(BRCA1): c.4167_4168insAG (p.Asp1390Argfs)insertionPathogenicrs80357847GRCh37Chr 17, 41242978: 41242979
133BRCA1U14680.1: n.4304+2_4304+22del21insAinsertionPathogenic
134BRCA1U14680.1: n.4305-1643_del3835deletionPathogenic
135BRCA1NM_007294.3(BRCA1): c.4214delT (p.Ile1405Lysfs)deletionPathogenicrs273900728GRCh38Chr 17, 43082547: 43082547
136BRCA1NM_007294.3(BRCA1): c.4285_4286insG (p.Tyr1429Terfs)insertionPathogenicrs80357716GRCh38Chr 17, 43082475: 43082476
137BRCA1NM_007294.3(BRCA1): c.4289dupC (p.Ser1431Phefs)duplicationPathogenicrs80357556GRCh37Chr 17, 41234488: 41234489
138BRCA1NM_007294.3: c.4338_4339ins4insertionPathogenicrs397509164GRCh38Chr 17, 43082422: 43082423
139BRCA1NM_007294.3(BRCA1): c.4372_4388del17 (p.Gln1458Profs)deletionPathogenicrs80359885GRCh38Chr 17, 43076584: 43076600
140BRCA1NM_007294.3(BRCA1): c.4463dupA (p.Asn1488Lysfs)duplicationPathogenicrs80357620GRCh38Chr 17, 43076508: 43076509
141BRCA1NM_007294.3(BRCA1): c.4594_4595insTC (p.Asp1533Leufs)insertionPathogenicrs80357826GRCh38Chr 17, 43074411: 43074412
142BRCA1NM_007294.3: c.4644_4645ins8insertionPathogenicGRCh37Chr 17, 41226378: 41226379
143BRCA1NM_007294.3(BRCA1): c.4675+3A> Tsingle nucleotide variantPathogenicrs80358082GRCh37Chr 17, 41226345: 41226345
144BRCA1NM_007294.3(BRCA1): c.4676-1G> Asingle nucleotide variantPathogenicrs80358008GRCh37Chr 17, 41223256: 41223256
145BRCA1NM_007294.3(BRCA1): c.4696_4697insA (p.Ser1566Tyrfs)insertionPathogenicGRCh37Chr 17, 41223234: 41223235
146BRCA1NM_007294.3(BRCA1): c.4764_4765delTC (p.Arg1589Cysfs)deletionPathogenicrs80357795GRCh37Chr 17, 41223166: 41223167
147BRCA1NM_007294.3(BRCA1): c.4843dupG (p.Ala1615Glyfs)duplicationPathogenicrs80357615GRCh37Chr 17, 41223087: 41223088
148BRCA1NM_007294.3(BRCA1): c.4891dupA (p.Ser1631Lysfs)duplicationPathogenicrs80357656GRCh37Chr 17, 41223039: 41223040
149BRCA1NM_007294.3(BRCA1): c.4933_4934insAA (p.Arg1645Lysfs)insertionPathogenicrs80357833GRCh37Chr 17, 41222997: 41222998
150BRCA1NM_007294.3(BRCA1): c.4934delG (p.Val1646Serfs)deletionPathogenicrs80357653GRCh38Chr 17, 43070980: 43070980
151BRCA1NM_007294.3(BRCA1): c.4942delA (p.Arg1649Glufs)deletionPathogenicrs80357761GRCh38Chr 17, 43070972: 43070972
152BRCA1NM_007294.3(BRCA1): c.4944_4945delAA (p.Arg1649Asnfs)deletionPathogenicrs80357655GRCh37Chr 17, 41222986: 41222987
153BRCA1NM_007294.3(BRCA1): c.4986+1G> Asingle nucleotide variantPathogenicrs80358162GRCh38Chr 17, 43070927: 43070927
154BRCA1U14680.1: n.5106-1A> Gsingle nucleotide variantPathogenic
155BRCA1NM_007294.3: c.5007_5008ins13insertionPathogenicGRCh38Chr 17, 43067674: 43067675
156BRCA1NM_007294.3(BRCA1): c.5027_5030delTAAC (p.Thr1677Ilefs)deletionPathogenicrs80357580GRCh37Chr 17, 41219669: 41219672
157BRCA1NM_007294.3(BRCA1): c.5028_5031delAACT (p.Thr1677Ilefs)deletionPathogenicrs80357924GRCh38Chr 17, 43067651: 43067654
158BRCA1NM_007294.3: c.5033_5034ins4insertionPathogenicGRCh38Chr 17, 43067648: 43067649
159BRCA1NM_007294.3(BRCA1): c.5056dupC (p.His1686Profs)duplicationPathogenicrs80357974GRCh38Chr 17, 43067625: 43067626
160BRCA1NM_007294.3(BRCA1): c.398_399delGT (p.Ala134Glnfs)deletionPathogenicrs80357568GRCh38Chr 17, 43104164: 43104165
161BRCA1NM_007294.3(BRCA1): c.5075-1G> Csingle nucleotide variantPathogenicrs1800747GRCh38Chr 17, 43063952: 43063952
162BRCA1NM_007294.3(BRCA1): c.5098delA (p.Thr1700Hisfs)deletionPathogenicGRCh38Chr 17, 43063928: 43063928
163BRCA1NM_007294.3(BRCA1): c.5145delC (p.Tyr1716Ilefs)deletionPathogenicrs80357870GRCh38Chr 17, 43063881: 43063881
164BRCA1U14680.1: n.5271+1G> Asingle nucleotide variantPathogenic
165BRCA1U14680.1: n.5271+3_5271+4insTinsertionPathogenic
166BRCA1U14680.1: n.5272-2delAdeletionPathogenic
167BRCA1NM_007294.3(BRCA1): c.5173_5176delGAAA (p.Arg1726Lysfs)deletionPathogenicrs80357867GRCh37Chr 17, 41215367: 41215370
168BRCA1U14680.1: n.5312+1G> Csingle nucleotide variantPathogenic
169BRCA1U14680.1: n.5312+2delTdeletionPathogenic
170BRCA1U14680.1: n.5312+3_del13deletionPathogenic
171BRCA1U14680.1: n.5313-1G> Asingle nucleotide variantPathogenicrs80358173GRCh37Chr 17, 41209153: 41209153
172BRCA1NM_007294.3(BRCA1): c.5241delA (p.Gly1748Valfs)deletionPathogenicrs80357791GRCh38Chr 17, 43057088: 43057088
173BRCA1U14680.1: n.5389_5395delCAGAAAGdeletionPathogenic
174BRCA1U14680.1: n.5396+1_del6deletionPathogenic
175BRCA1NM_007294.3(BRCA1): c.5286dupG (p.Leu1764Alafs)duplicationPathogenicrs80357886GRCh38Chr 17, 43051109: 43051110
176BRCA1NM_007294.3(BRCA1): c.5304delC (p.Tyr1769Metfs)deletionPathogenicrs80357959GRCh37Chr 17, 41203108: 41203108
177BRCA1NM_007294.3(BRCA1): c.5308delG (p.Phe1772Serfs)deletionPathogenicrs80357581GRCh38Chr 17, 43051087: 43051087
178BRCA1U14680.1: n.5430_5452del23deletionPathogenic
179BRCA1NM_007294.3(BRCA1): c.5332+2T> Asingle nucleotide variantPathogenicrs80358182GRCh38Chr 17, 43051061: 43051061
180BRCA1U14680.1: n.5452-36_del510deletionPathogenic
181BRCA1NM_007294.3(BRCA1): c.5352dupA (p.Gln1785Thrfs)duplicationPathogenicrs80357744GRCh37Chr 17, 41201191: 41201192
182BRCA1NM_007294.3(BRCA1): c.5370_5397del28 (p.Val1791Leufs)deletionPathogenicrs80359878GRCh38Chr 17, 43049130: 43049157
183BRCA1NM_007294.3(BRCA1): c.5384dupT (p.Ser1796Phefs)duplicationPathogenicrs80357838GRCh37Chr 17, 41201160: 41201161
184BRCA1U14680.1: n.5525+2delTdeletionPathogenic
185BRCA1NM_007294.3(BRCA1): c.5407-1G> Asingle nucleotide variantPathogenicrs80358029GRCh38Chr 17, 43047704: 43047704
186BRCA1NM_007294.3(BRCA1): c.5407-1G> Csingle nucleotide variantPathogenicrs80358029GRCh37Chr 17, 41199721: 41199721
187BRCA1NM_007294.3(BRCA1): c.5407-2A> Tsingle nucleotide variantPathogenicrs80358002GRCh37Chr 17, 41199722: 41199722
188BRCA1NM_007294.3(BRCA1): c.5418delA (p.Ile1807Leufs)deletionPathogenicrs80357934GRCh38Chr 17, 43047692: 43047692
189BRCA1NM_007294.3(BRCA1): c.5467+2T> Csingle nucleotide variantPathogenicrs80358009GRCh38Chr 17, 43047641: 43047641
190BRCA1NM_007294.3(BRCA1): c.5467+2T> Gsingle nucleotide variantPathogenicrs80358009GRCh38Chr 17, 43047641: 43047641
191BRCA1NM_007294.3(BRCA1): c.5468-1G> Asingle nucleotide variantPathogenicrs80358048GRCh37Chr 17, 41197820: 41197820
192BRCA1NM_007294.3(BRCA1): c.5468-40T> Asingle nucleotide variantPathogenicrs80358151GRCh38Chr 17, 43045842: 43045842
193BRCA1NM_007294.3(BRCA1): c.5490delA (p.Pro1831Leufs)deletionPathogenicrs80357976GRCh37Chr 17, 41197797: 41197797
194BRCA1NM_007294.3(BRCA1): c.442-2A> Csingle nucleotide variantPathogenicrs80358155GRCh38Chr 17, 43099882: 43099882
195BRCA1NM_007294.3(BRCA1): c.5498_5511delTGACCCGAGAGTGG (p.Val1833Glyfs)deletionPathogenicrs80359873GRCh37Chr 17, 41197776: 41197789
196BRCA1NM_007294.3(BRCA1): c.5510delG (p.Val1838Cysfs)deletionPathogenicrs80357839GRCh38Chr 17, 43045760: 43045760
197BRCA1L824Xsingle nucleotide variantPathogenic
198BRCA1NM_007294.3: c.5534_5539delACCAGTins20indelPathogenicGRCh37Chr 17, 41197748: 41197753
199BRCA1NM_007294.3(BRCA1): c.5563delAins6indelPathogenicGRCh38Chr 17, 43045707: 43045707
200BRCA1NM_007294.3(BRCA1): c.456_457delCA (p.Ser153Cysfs)deletionPathogenicrs80357882GRCh37Chr 17, 41251882: 41251883
201BRCA1NM_007294.3(BRCA1): c.464delA (p.Gln155Hisfs)deletionPathogenicGRCh38Chr 17, 43099858: 43099858
202BRCA1NM_007294.3(BRCA1): c.547+1G> Asingle nucleotide variantPathogenicrs80358030GRCh38Chr 17, 43099774: 43099774
203BRCA1NM_007294.3: c.625_626ins20insertionPathogenicGRCh38Chr 17, 43095890: 43095891
204BRCA1NM_007294.3(BRCA1): c.668dupA (p.Ala224Glyfs)duplicationPathogenicrs80357537GRCh38Chr 17, 43095847: 43095848
205BRCA1NM_007294.3(BRCA1): c.797_798delTT (p.Ser267Lysfs)deletionPathogenicrs80357789GRCh37Chr 17, 41246750: 41246751
206BRCA1NM_007294.3: c.807_808ins11insertionPathogenicGRCh38Chr 17, 43094723: 43094724
207BRCA1NM_007294.3(BRCA1): c.833_834insA (p.His279Serfs)insertionPathogenicGRCh37Chr 17, 41246714: 41246715
208BRCA1NM_007294.3(BRCA1): c.842_843insAG (p.Ser281Argfs)insertionPathogenicrs80357792GRCh38Chr 17, 43094688: 43094689
209BRCA1NM_007294.3: c.851_852ins7insertionPathogenicGRCh38Chr 17, 43094679: 43094680
210BRCA2BRCA2: exon 2 deletionundetermined variantPathogenic
211BRCA2NM_000059.3(BRCA2): c.775_776delAG (p.Glu260Serfs)deletionPathogenicrs80359677GRCh37Chr 13, 32905149: 32905150
212BRCA2NM_000059.3(BRCA2): c.891_899delAACAGTTGTinsGATACTTCAG (p.Thr298Ilefs)indelPathogenicrs276174914GRCh38Chr 13, 32332368: 32332377
213BRCA2NM_000059.3(BRCA2): c.995_996insG (p.Ile332Metfs)insertionPathogenicrs276174931GRCh37Chr 13, 32906610: 32906611
214BRCA2NM_000059.3(BRCA2): c.1190_1191insTTAG (p.Gln397Hisfs)insertionPathogenicrs80359266GRCh37Chr 13, 32906805: 32906806
215BRCA2NM_000059.3(BRCA2): c.1231delA (p.Ile411Tyrfs)deletionPathogenicrs80359269GRCh37Chr 13, 32906846: 32906846
216BRCA2NM_000059.3(BRCA2): c.1301_1304delAAAG (p.Lys437Ilefs)deletionPathogenicrs80359277GRCh37Chr 13, 32906916: 32906919
217BRCA2NM_000059.3(BRCA2): c.1309_1312delAAAG (p.Lys437Ilefs)deletionPathogenicrs80359279GRCh38Chr 13, 32332787: 32332790
218BRCA2NM_000059.3(BRCA2): c.1362dupA (p.Ser455Ilefs)duplicationPathogenicrs80359282GRCh38Chr 13, 32332840: 32332841
219BRCA2NM_000059.3(BRCA2): c.1408dupG (p.Glu470Glyfs)duplicationPathogenicrs80359284GRCh37Chr 13, 32907023: 32907024
220BRCA2NM_000059.3(BRCA2): c.1542dupG (p.Thr515Aspfs)duplicationPathogenicrs80359288GRCh37Chr 13, 32907156: 32907157
221BRCA2NM_000059.3(BRCA2): c.1608dupT (p.Glu537Terfs)duplicationPathogenicrs276174811GRCh38Chr 13, 32333085: 32333086
222BRCA2NM_000059.3(BRCA2): c.1648dupG (p.Glu550Glyfs)duplicationPathogenicrs80359296GRCh37Chr 13, 32907263: 32907264
223BRCA2NM_000059.3: c.1668_1671delTTTAins3indelPathogenicGRCh37Chr 13, 32907283: 32907286
224BRCA2NM_000059.3(BRCA2): c.1772_1775delTTTA (p.Ile591Metfs)deletionPathogenicrs80359304GRCh38Chr 13, 32333250: 32333253
225BRCA2U43746.1: n.2001_2004delTATTdeletionPathogenic
226BRCA2NM_000059.3(BRCA2): c.1794_1798delATCTT (p.Ser599Terfs)deletionPathogenicrs276174813GRCh38Chr 13, 32333272: 32333276
227BRCA2NM_000059.3(BRCA2): c.1807dupA (p.Ile605Asnfs)duplicationPathogenicrs80359306GRCh37Chr 13, 32907421: 32907422
228BRCA2NM_000059.3(BRCA2): c.1806delA (p.Ile605Tyrfs)deletionPathogenicrs80359307GRCh37Chr 13, 32907421: 32907421
229BRCA2NM_000059.3(BRCA2): c.1854_1855insA (p.Gln619Thrfs)insertionPathogenicrs80359313GRCh37Chr 13, 32907469: 32907470
230BRCA2NM_000059.3(BRCA2): c.2212dupT (p.Cys738Leufs)duplicationPathogenicrs80359325GRCh38Chr 13, 32336567: 32336568
231BRCA2NM_000059.3(BRCA2): c.37_38insT (p.Glu13Valfs)insertionPathogenicrs80359400GRCh38Chr 13, 32316497: 32316498
232BRCA2NM_000059.3(BRCA2): c.2439dupT (p.Pro814Serfs)duplicationPathogenicrs276174822GRCh37Chr 13, 32910931: 32910932
233BRCA2NM_000059.3(BRCA2): c.2526dupA (p.Ala843Serfs)duplicationPathogenicrs80359332GRCh38Chr 13, 32336881: 32336882
234BRCA2NM_000059.3(BRCA2): c.2583dupA (p.Asn863Lysfs)duplicationPathogenicrs80359335GRCh37Chr 13, 32911074: 32911075
235BRCA2NM_000059.3(BRCA2): c.2584_2590delAAAAATC (p.Asn863Lysfs)deletionPathogenicrs80359336GRCh37Chr 13, 32911076: 32911082
236BRCA2NM_000059.3(BRCA2): c.2595delA (p.Glu866Lysfs)deletionPathogenicGRCh38Chr 13, 32336950: 32336950
237BRCA2NM_000059.3(BRCA2): c.71_96del26 (p.Leu24Terfs)deletionPathogenicrs80359637GRCh37Chr 13, 32893217: 32893242
238BRCA2NM_000059.3(BRCA2): c.2806_2809delAAAC (p.Ala938Profs)deletionPathogenicrs80359351GRCh37Chr 13, 32911298: 32911301
239BRCA2NM_000059.3(BRCA2): c.2833_2834insTT (p.Lys945Ilefs)insertionPathogenicrs80359355GRCh37Chr 13, 32911325: 32911326
240BRCA2NM_000059.3(BRCA2): c.2842dupG (p.Val948Glyfs)duplicationPathogenicrs80359359GRCh38Chr 13, 32337197: 32337198
241BRCA2NM_000059.3(BRCA2): c.2930_2940delTGAATATAGAT (p.Leu977Terfs)deletionPathogenicrs80359364GRCh38Chr 13, 32337285: 32337295
242BRCA2NM_000059.3(BRCA2): c.2978G> A (p.Trp993Ter)single nucleotide variantPathogenicrs80358543GRCh37Chr 13, 32911470: 32911470
243BRCA2NM_000059.3(BRCA2): c.3067_3071delAACAT (p.Asn1023Terfs)deletionPathogenicrs80359369GRCh38Chr 13, 32337422: 32337426
244BRCA2U43746.1: n.3347_3348delAGdeletionPathogenic
245BRCA2NM_000059.3(BRCA2): c.106dupT (p.Ser36Phefs)duplicationPathogenicrs80359262GRCh37Chr 13, 32893252: 32893253
246BRCA2NM_000059.3(BRCA2): c.3192_3195delAATT (p.Asn1066Leufs)deletionPathogenicrs80359375GRCh38Chr 13, 32337547: 32337550
247BRCA2NM_000059.3: c.132_133ins8insertionPathogenicGRCh37Chr 13, 32893278: 32893279
248BRCA2NM_000059.3: c.3407_3408ins100insertionPathogenicGRCh38Chr 13, 32337762: 32337763
249BRCA2NM_000059.3(BRCA2): c.3454dupT (p.Leu1152Phefs)duplicationPathogenicrs80359385GRCh38Chr 13, 32337808: 32337809
250BRCA2NM_000059.3(BRCA2): c.3458delA (p.Lys1153Argfs)deletionPathogenicrs80359386GRCh37Chr 13, 32911950: 32911950
251BRCA2E49Xsingle nucleotide variantPathogenic
252BRCA2NM_000059.3(BRCA2): c.3598_3599delTG (p.Cys1200Terfs)deletionPathogenicrs80359391GRCh38Chr 13, 32337953: 32337954
253BRCA2U43746.1: n.384_385insAluinsertionPathogenic
254BRCA2U43746.1: n.3875_3876delGTdeletionPathogenic
255BRCA2NM_000059.3: c.3730_3734delATTGAins4indelPathogenicGRCh37Chr 13, 32912222: 32912226
256BRCA2NM_000059.3(BRCA2): c.4006_4007insA (p.Phe1336Tyrfs)insertionPathogenicrs80359419GRCh37Chr 13, 32912498: 32912499
257BRCA2NM_000059.3(BRCA2): c.4008_4009insCATC (p.Asp1337Hisfs)insertionPathogenicrs80359420GRCh37Chr 13, 32912500: 32912501
258BRCA2NM_000059.3(BRCA2): c.4014_4015insGG (p.Ser1339Glyfs)insertionPathogenicrs276174839GRCh37Chr 13, 32912506: 32912507
259BRCA2NM_000059.3(BRCA2): c.4048dupC (p.His1350Profs)duplicationPathogenicrs80359422GRCh38Chr 13, 32338403: 32338404
260BRCA2NM_000059.3(BRCA2): c.4131_4132insTGAGGA (p.Thr1378Ter)insertionPathogenicrs80359429GRCh37Chr 13, 32912623: 32912624
261BRCA2NM_000059.3(BRCA2): c.4138_4139insTT (p.Lys1381Leufs)insertionPathogenicrs276174842GRCh38Chr 13, 32338493: 32338494
262BRCA2NM_000059.3(BRCA2): c.4283dupT (p.Gln1429Serfs)duplicationPathogenicrs80359439GRCh37Chr 13, 32912774: 32912775
263BRCA2NM_000059.3(BRCA2): c.4454_4457delTAGT (p.Val1486Asnfs)deletionPathogenicrs80359449GRCh38Chr 13, 32338809: 32338812
264BRCA2NM_000059.3(BRCA2): c.4478dupA (p.Ser1494Lysfs)duplicationPathogenicrs80359453GRCh37Chr 13, 32912969: 32912970
265BRCA2NM_000059.3(BRCA2): c.4477_4480delGAAA (p.Glu1493Valfs)deletionPathogenicrs80359454GRCh38Chr 13, 32338832: 32338835
266BRCA2NM_000059.3(BRCA2): c.4563_4564delAT (p.Leu1522Glyfs)deletionPathogenicGRCh38Chr 13, 32338918: 32338919
267BRCA2U43746.1: n.489_490delCTdeletionPathogenic
268BRCA2NM_000059.3: c.4718_4719ins4insertionPathogenicGRCh37Chr 13, 32913210: 32913211
269BRCA2NM_000059.3(BRCA2): c.4809_4810insA (p.Leu1604Thrfs)insertionPathogenicrs80359467GRCh37Chr 13, 32913301: 32913302
270BRCA2NM_000059.3(BRCA2): c.4904dupT (p.Leu1635Phefs)duplicationPathogenicrs80359471GRCh37Chr 13, 32913396: 32913397
271BRCA2NM_000059.3(BRCA2): c.4965C> R (p.Tyr1655Ter)undetermined variantPathogenicrs80358721GRCh38Chr 13, 32339319: 32339320
272BRCA2NM_000059.3(BRCA2): c.4981_4982insG (p.Tyr1661Terfs)insertionPathogenicrs80359476GRCh38Chr 13, 32339336: 32339337
273BRCA2NM_000059.3(BRCA2): c.5068_5071delAAAA (p.Lys1690Asnfs)deletionPathogenicrs80359479GRCh37Chr 13, 32913560: 32913563
274BRCA2NM_000059.3(BRCA2): c.5074_5075insA (p.Trp1692Terfs)insertionPathogenicrs80359482GRCh37Chr 13, 32913566: 32913567
275BRCA2NM_000059.3(BRCA2): c.5129_5132delATGT (p.Tyr1710Terfs)deletionPathogenicrs80359484GRCh38Chr 13, 32339484: 32339487
276BRCA2NM_000059.3(BRCA2): c.5145_5148delGTAT (p.Tyr1716Lysfs)deletionPathogenicrs276174854GRCh38Chr 13, 32339500: 32339503
277BRCA2NM_000059.3(BRCA2): c.5222_5225delGTAA (p.Ser1741Thrfs)deletionPathogenicrs80359498GRCh38Chr 13, 32339577: 32339580
278BRCA2NM_000059.3(BRCA2): c.5239_5240insT (p.Asn1747Ilefs)insertionPathogenicrs80359500GRCh37Chr 13, 32913731: 32913732
279BRCA2NM_000059.3(BRCA2): c.5270_5286del17 (p.Tyr1757Serfs)deletionPathogenicrs80359502GRCh37Chr 13, 32913762: 32913778
280BRCA2NM_000059.3(BRCA2): c.5492dupT (p.Ser1832Ilefs)duplicationPathogenicrs80359517GRCh37Chr 13, 32913984: 32913985
281BRCA2NM_000059.3(BRCA2): c.5575_5578delATTA (p.Ile1859Lysfs)deletionPathogenicrs80359520GRCh37Chr 13, 32914067: 32914070
282BRCA2NM_000059.3(BRCA2): c.5655_5656insCC (p.Gln1886Profs)insertionPathogenicrs276174861GRCh38Chr 13, 32340010: 32340011
283BRCA2NM_000059.3(BRCA2): c.5718_5719delCT (p.Leu1908Argfs)deletionPathogenicrs80359530GRCh37Chr 13, 32914210: 32914211
284BRCA2NM_000059.3(BRCA2): c.5848_5851delGTTA (p.Ser1951Trpfs)deletionPathogenicrs80359543GRCh37Chr 13, 32914340: 32914343
285BRCA2NM_000059.3(BRCA2): c.5863delT (p.Ser1955Glnfs)deletionPathogenicrs80359546GRCh37Chr 13, 32914355: 32914355
286BRCA2NM_000059.3(BRCA2): c.5931dupT (p.Ser1979Terfs)duplicationPathogenicrs80359548GRCh37Chr 13, 32914422: 32914423
287BRCA2NM_000059.3(BRCA2): c.5953_5954delTC (p.Ser1985Cysfs)deletionPathogenicrs80359551GRCh37Chr 13, 32914445: 32914446
288BRCA2NM_000059.3(BRCA2): c.6098dupT (p.Arg2034Thrfs)duplicationPathogenicGRCh37Chr 13, 32914589: 32914590
289BRCA2NM_000059.3(BRCA2): c.6203_6204insA (p.Leu2069Phefs)insertionPathogenicrs80359566GRCh37Chr 13, 32914695: 32914696
290BRCA2U43746.1: n.6437delTdeletionPathogenic
291BRCA2NM_000059.3(BRCA2): c.6219dupA (p.His2074Thrfs)duplicationPathogenicrs80359568GRCh38Chr 13, 32340574: 32340575
292BRCA2NM_000059.3(BRCA2): c.6374_6375insA (p.Cys2126Leufs)insertionPathogenicrs80359579GRCh38Chr 13, 32340729: 32340730
293BRCA2NM_000059.3(BRCA2): c.6391_6392insT (p.Lys2131Ilefs)insertionPathogenicrs80359580GRCh37Chr 13, 32914883: 32914884
294BRCA2NM_000059.3(BRCA2): c.6402_6406delTAACT (p.Asn2135Lysfs)deletionPathogenicrs80359584GRCh37Chr 13, 32914894: 32914898
295BRCA2NM_000059.3(BRCA2): c.6462_6463delTC (p.Gln2157Ilefs)deletionPathogenicrs80359596GRCh37Chr 13, 32914954: 32914955
296BRCA2NM_000059.3: c.6535_6536ins8insertionPathogenicrs80359601GRCh37Chr 13, 32915027: 32915028
297BRCA2NM_000059.3(BRCA2): c.6535dupG (p.Val2179Glyfs)duplicationPathogenicrs80359601GRCh37Chr 13, 32915027: 32915028
298BRCA2NM_000059.3(BRCA2): c.6591delT (p.Glu2198Lysfs)deletionPathogenicrs80359606GRCh37Chr 13, 32915083: 32915083
299BRCA2NM_000059.3(BRCA2): c.6644_6648delACTCC (p.Tyr2215Terfs)deletionPathogenicrs80359616GRCh37Chr 13, 32915136: 32915140
300BRCA2NM_000059.3(BRCA2): c.6645C> G (p.Tyr2215Ter)single nucleotide variantPathogenicrs80358892GRCh38Chr 13, 32341000: 32341000
301BRCA2NM_000059.3(BRCA2): c.6658_6662delGAAAA (p.Glu2220Leufs)deletionPathogenicrs80359618GRCh37Chr 13, 32915150: 32915154
302BRCA2NM_000059.3(BRCA2): c.6829_6833delCTTAT (p.Ile2278Serfs)deletionPathogenicrs80359626GRCh37Chr 13, 32915321: 32915325
303BRCA2NM_000059.3(BRCA2): c.489_490insG (p.Leu164Valfs)insertionPathogenicrs120074205GRCh38Chr 13, 32326255: 32326256
304BRCA2NM_000059.3(BRCA2): c.7235_7236insG (p.Lys2413Terfs)insertionPathogenicGRCh37Chr 13, 32929225: 32929226
305BRCA2NM_000059.3(BRCA2): c.7283delT (p.Leu2428Trpfs)deletionPathogenicGRCh37Chr 13, 32929273: 32929273
306BRCA2NM_000059.3(BRCA2): c.7379_7380insG (p.Asn2460Lysfs)insertionPathogenicrs80359647GRCh37Chr 13, 32929369: 32929370
307BRCA2NM_000059.3(BRCA2): c.7469dupT (p.Gln2491Thrfs)duplicationPathogenicGRCh38Chr 13, 32356460: 32356461
308BRCA2NM_000059.3(BRCA2): c.7595_7596insTT (p.Ala2534Leufs)insertionPathogenicrs80359666GRCh37Chr 13, 32930724: 32930725
309BRCA2NM_000059.3(BRCA2): c.7596_7609delCTCTGCGTGTTCTC (p.Ser2533Terfs)deletionPathogenicrs80359667GRCh37Chr 13, 32930725: 32930738
310BRCA2U43746.1: n.7829+1G> Asingle nucleotide variantPathogenic
311BRCA2U43746.1: n.7829+1G> Tsingle nucleotide variantPathogenic
312BRCA2U43746.1: n.7829+2T> Gsingle nucleotide variantPathogenic
313BRCA2U43746.1: n.7830-1G> Asingle nucleotide variantPathogenic
314BRCA2NM_000059.3(BRCA2): c.7627dupT (p.Tyr2543Leufs)duplicationPathogenicrs80359668GRCh37Chr 13, 32931888: 32931889
315BRCA2NM_000059.3: c.7662_7663ins37insertionPathogenicGRCh37Chr 13, 32931923: 32931924
316BRCA2NM_000059.3(BRCA2): c.7719dupA (p.Trp2574Metfs)duplicationPathogenicrs80359676GRCh37Chr 13, 32931980: 32931981
317BRCA2NM_000059.3(BRCA2): c.7791dupA (p.Glu2598Argfs)duplicationPathogenicrs80359681GRCh37Chr 13, 32932052: 32932053
318BRCA2NM_000059.3(BRCA2): c.7819_7820insGACA (p.Thr2607Argfs)insertionPathogenicrs80359684GRCh37Chr 13, 32936673: 32936674
319BRCA2NM_000059.3(BRCA2): c.7910_7914delCCTTT (p.Phe2638Terfs)deletionPathogenicrs80359686GRCh37Chr 13, 32936764: 32936768
320BRCA2NM_000059.3(BRCA2): c.7921_7926delGAATTTinsAG (p.Glu2641Argfs)indelPathogenicrs276174897GRCh37Chr 13, 32936774: 32936780
321BRCA2NM_000059.3(BRCA2): c.7977-1G> Tsingle nucleotide variantPathogenicrs81002874GRCh38Chr 13, 32363178: 32363178
322BRCA2NM_000059.3(BRCA2): c.8010_8032del23 (p.Ala2671Glyfs)deletionPathogenicrs80359690GRCh37Chr 13, 32937349: 32937371
323BRCA2U43746.1: n.8397dupTGGGduplicationPathogenic
324BRCA2NM_000059.3(BRCA2): c.8208_8209insAG (p.Leu2737Serfs)insertionPathogenicGRCh37Chr 13, 32937547: 32937548
325BRCA2NM_000059.3(BRCA2): c.8219dupT (p.Leu2740Phefs)duplicationPathogenicrs80359697GRCh37Chr 13, 32937558: 32937559
326BRCA2NM_000059.3(BRCA2): c.8246_8247delAG (p.Lys2750Aspfs)deletionPathogenicrs80359701GRCh37Chr 13, 32937585: 32937586
327BRCA2NM_000059.3: c.8278_8279ins71insertionPathogenicGRCh37Chr 13, 32937617: 32937618
328BRCA2NM_000059.3(BRCA2): c.8323dupA (p.Met2775Asnfs)duplicationPathogenicrs276174904GRCh37Chr 13, 32937662: 32937663
329BRCA2U43746.1: n.8560_8860del301deletionPathogenic
330BRCA2NM_000059.3: c.8483_8484ins11insertionPathogenicGRCh37Chr 13, 32944690: 32944691
331BRCA2NM_000059.3(BRCA2): c.8533_8534delAG (p.Glu2846Glyfs)deletionPathogenicrs80359714GRCh37Chr 13, 32945138: 32945139
332BRCA2NM_000059.3(BRCA2): c.8578_8579delAA (p.Lys2860Glufs)deletionPathogenicrs80359719GRCh37Chr 13, 32945183: 32945184
333BRCA2U43746.1: n.886_887delGCdeletionPathogenic
334BRCA2NM_000059.3(BRCA2): c.8748_8749insTTAC (p.Glu2918Profs)insertionPathogenicrs80359727GRCh37Chr 13, 32950922: 32950923
335BRCA2NM_000059.3: c.8800_8801ins346insertionPathogenicGRCh37Chr 13, 32953499: 32953500
336BRCA2U43746.1: n.9176_9186del11deletionPathogenic
337BRCA2NM_000059.3(BRCA2): c.8954-1del3insAAindelPathogenicGRCh38Chr 13, 32379749: 32379749
338BRCA2NM_000059.3(BRCA2): c.9015_9016delAT (p.Tyr3006Glnfs)deletionPathogenicrs80359739GRCh38Chr 13, 32379811: 32379812
339BRCA2U43746.1: n.9279+1G> Asingle nucleotide variantPathogenic
340BRCA2NM_000059.3(BRCA2): c.9066_9067insAA (p.Ala3023Lysfs)insertionPathogenicrs80359745GRCh37Chr 13, 32953999: 32954000
341BRCA2NM_000059.3(BRCA2): c.9098dupC (p.Gln3034Serfs)duplicationPathogenicrs80359747GRCh38Chr 13, 32379894: 32379895
342BRCA2U43746.1: n.9476_9491del16deletionPathogenic
343BRCA2NM_000059.3: c.9330_9334delTGAGGins3indelPathogenicGRCh37Chr 13, 32968899: 32968903
344BRCA2NM_000059.3(BRCA2): c.9384_9385insG (p.Pro3129Alafs)insertionPathogenicrs80359758GRCh37Chr 13, 32968953: 32968954
345BRCA2NM_000059.3(BRCA2): c.9456_9457insAG (p.Gly3153Argfs)insertionPathogenicrs80359765GRCh38Chr 13, 32394888: 32394889
346BRCA2NM_000059.3(BRCA2): c.767_771delCAAAT (p.Asn257Lysfs)deletionPathogenicrs80359671GRCh37Chr 13, 32905141: 32905145
347BRCA1BRCA1, 59-BP INSinsertionPathogenic
348BRCA1NM_007294.3(BRCA1): c.1011dupA (p.Val340Glyfs)duplicationPathogenicrs80357563GRCh37Chr 17, 41246537: 41246538
349BRCA1NM_007294.3(BRCA1): c.2296_2297delAG (p.Ser766Terfs)deletionPathogenicrs80357780GRCh37Chr 17, 41245251: 41245252
350BRCA1NM_007294.3(BRCA1): c.2743_2744delTC (p.Ser915Terfs)deletionPathogenicrs80357540GRCh37Chr 17, 41244804: 41244805
351BRCA1NM_007294.3(BRCA1): c.3005delA (p.Asn1002Thrfs)deletionPathogenicrs80357601GRCh38Chr 17, 43092526: 43092526
352BRCA1NM_007294.3(BRCA1): c.4966_4984del19 (p.Gly1656Leufs)deletionPathogenicrs80359884GRCh37Chr 17, 41222947: 41222965
353BRCA1NM_007294.3(BRCA1): c.2389G> T (p.Glu797Ter)single nucleotide variantPathogenicrs62625306GRCh37Chr 17, 41245159: 41245159
354BRCA1NM_007294.3(BRCA1): c.3769_3770delGA (p.Glu1257Glyfs)deletionPathogenicrs80357579GRCh37Chr 17, 41243778: 41243779
355BRCA1BRCA1, 1-BP DEL, 4153AdeletionPathogenic
356BRCA1BRCA1, 16-KB INS, EX13insertionPathogenic
357BRCA1NM_007294.3(BRCA1): c.3625delT (p.Leu1209Terfs)deletionPathogenicrs387906564GRCh37Chr 17, 41243923: 41243923
358BRCA1NM_007294.3(BRCA1): c.5324T> A (p.Met1775Lys)single nucleotide variantLikely pathogenic, Pathogenicrs41293463GRCh37Chr 17, 41203088: 41203088
359RAD51DRAD51D, 1-BP DEL, 363Adeletionrisk factor
360RAD51DRAD51D, TRP268TERsingle nucleotide variantrisk factor
361NM_002878.3(RAD51D): c.556C> T (p.Arg186Ter)single nucleotide variantPathogenic, risk factorrs387906843GRCh37Chr 17, 33433425: 33433425
362RAD51DRAD51D, NT480, G-A, +1single nucleotide variantrisk factor
363RAD51DRAD51D, GLN115HISsingle nucleotide variantrisk factor
364NM_002878.3(RAD51D): c.757C> T (p.Arg253Ter)single nucleotide variantPathogenic, risk factorrs137886232GRCh37Chr 17, 33428366: 33428366
365RAD51CNM_058216.2(RAD51C): c.397C> T (p.Gln133Ter)single nucleotide variantrisk factorrs387907159GRCh37Chr 17, 56772543: 56772543
366RAD51CRAD51C, 1-BP DEL, 230Gdeletionrisk factor
367RAD51CRAD51C, 1-BP DEL, 93Gdeletionrisk factor
368RAD51CRAD51C, IVS5DS, G-A, +1single nucleotide variantrisk factor
369BRCA1NM_007294.3(BRCA1): c.1016delA (p.Lys339Argfs)deletionPathogenicrs80357618GRCh37Chr 17, 41246532: 41246532
370BRCA1NM_007294.3(BRCA1): c.1018delG (p.Val340Terfs)deletionPathogenicrs80357774GRCh37Chr 17, 41246530: 41246530
371BRCA1NM_007294.3(BRCA1): c.1121delC (p.Thr374Asnfs)deletionPathogenicrs80357612GRCh37Chr 17, 41246427: 41246427
372BRCA1NM_007294.3(BRCA1): c.116G> A (p.Cys39Tyr)single nucleotide variantPathogenicrs80357498GRCh37Chr 17, 41267761: 41267761
373BRCA1NM_007294.3(BRCA1): c.116G> T (p.Cys39Phe)single nucleotide variantPathogenicrs80357498GRCh37Chr 17, 41267761: 41267761
374BRCA1NM_007294.3(BRCA1): c.1175_1215del41 (p.Leu392Glnfs)deletionPathogenicrs397507180GRCh37Chr 17, 41246333: 41246373
375BRCA1NM_007294.3(BRCA1): c.1175_1216del42 (p.Leu392_Asn406delinsHis)deletionPathogenicrs397507181GRCh37Chr 17, 41246332: 41246373
376BRCA1NM_007294.3(BRCA1): c.1175_1217del43 (p.Leu393Profs)deletionPathogenicrs397507182GRCh37Chr 17, 41246331: 41246373
377BRCA1NM_007294.3(BRCA1): c.1175_1218del44 (p.Leu392Argfs)deletionPathogenicrs397507183GRCh37Chr 17, 41246330: 41246373
378BRCA1NM_007294.3(BRCA1): c.134+5G> Csingle nucleotide variantLikely pathogenicrs80358038GRCh37Chr 17, 41267738: 41267738
379BRCA1NM_007294.3(BRCA1): c.1340_1341insG (p.His448Serfs)insertionPathogenicrs80357597GRCh37Chr 17, 41246207: 41246208
380BRCA1NM_007294.3: c.1387_1390delAAAAins5indelPathogenicrs397508866GRCh37Chr 17, 41246158: 41246161
381BRCA1NM_007294.3(BRCA1): c.1389_1390delAAinsG (p.Thr464Profs)indelPathogenicrs273897659GRCh37Chr 17, 41246158: 41246159
382BRCA1NM_007294.3(BRCA1): c.1444_1447delATTA (p.Ile482Terfs)deletionPathogenicrs80357801GRCh37Chr 17, 41246101: 41246104
383BRCA1NM_007294.3(BRCA1): c.1480C> T (p.Gln494Ter)single nucleotide variantPathogenicrs80357010GRCh37Chr 17, 41246068: 41246068
384BRCA1NM_007294.3(BRCA1): c.1674delA (p.Gly559Valfs)deletionPathogenicrs80357600GRCh37Chr 17, 41245874: 41245874
385BRCA1NM_007294.3(BRCA1): c.1728dupA (p.Glu577Argfs)duplicationPathogenicrs397507192GRCh37Chr 17, 41245819: 41245820
386BRCA1NM_007294.3(BRCA1): c.1854delG (p.Arg618Serfs)deletionPathogenicrs397507193GRCh37Chr 17, 41245694: 41245694
387BRCA1NM_007294.3: c.1877_1878ins4insertionPathogenicGRCh37Chr 17, 41245670: 41245671
388BRCA1NM_007294.3(BRCA1): c.1972delA (p.Met658Cysfs)deletionPathogenicrs397507195GRCh37Chr 17, 41245576: 41245576
389BRCA1NM_007294.3(BRCA1): c.2105dupT (p.Leu702Phefs)duplicationPathogenicrs80357880GRCh37Chr 17, 41245442: 41245443
390BRCA1NM_007294.3(BRCA1): c.212+1G> Asingle nucleotide variantPathogenicrs80358042GRCh37Chr 17, 41258472: 41258472
391BRCA1NM_007294.3: c.2125_2126ins3insertionPathogenicGRCh37Chr 17, 41245422: 41245423
392BRCA1NM_007294.3(BRCA1): c.2138C> G (p.Ser713Ter)single nucleotide variantPathogenicrs80357233GRCh37Chr 17, 41245410: 41245410
393BRCA1NM_007294.3(BRCA1): c.2158G> T (p.Glu720Ter)single nucleotide variantPathogenicrs80356875GRCh37Chr 17, 41245390: 41245390
394BRCA1NM_007294.3(BRCA1): c.2214_2215insTT (p.Lys739Leufs)insertionPathogenicrs397507197GRCh37Chr 17, 41245333: 41245334
395BRCA1NM_007294.3(BRCA1): c.2269delG (p.Val757Phefs)deletionPathogenicrs80357583GRCh37Chr 17, 41245279: 41245279
396BRCA1NM_007294.3(BRCA1): c.2424delT (p.Phe808Leufs)deletionPathogenicrs397507200GRCh37Chr 17, 41245124: 41245124
397BRCA1NM_007294.3(BRCA1): c.2563C> T (p.Gln855Ter)single nucleotide variantPathogenicrs80357131GRCh37Chr 17, 41244985: 41244985
398BRCA1NM_007294.3(BRCA1): c.2603C> G (p.Ser868Ter)single nucleotide variantPathogenicrs80356925GRCh37Chr 17, 41244945: 41244945
399BRCA1NM_007294.3(BRCA1): c.2635G> T (p.Glu879Ter)single nucleotide variantPathogenicrs80357251GRCh37Chr 17, 41244913: 41244913
400BRCA1NM_007294.3(BRCA1): c.2677A> T (p.Lys893Ter)single nucleotide variantPathogenicrs80357170GRCh37Chr 17, 41244871: 41244871
401BRCA1NM_007294.3(BRCA1): c.2710G> T (p.Glu904Ter)single nucleotide variantPathogenicrs80357035GRCh37Chr 17, 41244838: 41244838
402BRCA1NM_007294.3(BRCA1): c.2864_2865insT (p.Ser956Ilefs)insertionPathogenicrs397507205GRCh37Chr 17, 41244683: 41244684
403BRCA1NM_007294.3(BRCA1): c.2934T> G (p.Tyr978Ter)single nucleotide variantPathogenicrs80357115GRCh37Chr 17, 41244614: 41244614
404BRCA1NM_007294.3(BRCA1): c.2981_2982delGT (p.Cys994Terfs)deletionPathogenicrs397507207GRCh37Chr 17, 41244566: 41244567
405BRCA1NM_007294.3(BRCA1): c.2990_2991insAA (p.Asn997Lysfs)insertionPathogenicrs80357829GRCh37Chr 17, 41244557: 41244558
406BRCA1NM_007294.3(BRCA1): c.302-2A> Csingle nucleotide variantPathogenicrs80358011GRCh37Chr 17, 41256280: 41256280
407BRCA1NM_007294.3(BRCA1): c.302-3C> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs80358051GRCh37Chr 17, 41256281: 41256281
408BRCA1NM_007294.3(BRCA1): c.3037_3038delGA (p.Glu1013Asnfs)deletionPathogenicrs397507208GRCh37Chr 17, 41244510: 41244511
409BRCA1NM_007294.3: c.3052_3053ins5insertionPathogenicGRCh37Chr 17, 41244495: 41244496
410BRCA1NM_007294.3: c.3164_3165ins4insertionPathogenicGRCh37Chr 17, 41244383: 41244384
411BRCA1NM_007294.3(BRCA1): c.3174delT (p.Asn1059Metfs)deletionPathogenicrs397507210GRCh37Chr 17, 41244374: 41244374
412BRCA1NM_007294.3(BRCA1): c.3228_3229delAG (p.Gly1077Alafs)deletionPathogenicrs80357635GRCh37Chr 17, 41244319: 41244320
413BRCA1NM_007294.3(BRCA1): c.3255_3256insGA (p.Leu1086Aspfs)insertionPathogenicrs80357624GRCh37Chr 17, 41244292: 41244293
414BRCA1NM_007294.3(BRCA1): c.329delA (p.Lys110Argfs)deletionPathogenicrs397507214GRCh37Chr 17, 41256251: 41256251
415BRCA1NM_007294.3(BRCA1): c.3352C> T (p.Gln1118Ter)single nucleotide variantPathogenicrs397507215GRCh37Chr 17, 41244196: 41244196
416BRCA1NM_007294.3(BRCA1): c.3358_3359delGT (p.Val1120Terfs)deletionPathogenicrs80357945GRCh37Chr 17, 41244189: 41244190
417BRCA1NM_007294.3(BRCA1): c.3389C> G (p.Ser1130Ter)single nucleotide variantPathogenicrs80357405GRCh37Chr 17, 41244159: 41244159
418BRCA1NM_007294.3(BRCA1): c.3400G> T (p.Glu1134Ter)single nucleotide variantPathogenicrs80357018GRCh37Chr 17, 41244148: 41244148
419BRCA1NM_007294.3(BRCA1): c.3485delA (p.Asp1162Valfs)deletionPathogenicrs80357509GRCh37Chr 17, 41244063: 41244063
420BRCA1NM_007294.3(BRCA1): c.3503delA (p.Asn1168Metfs)deletionPathogenicrs397507216GRCh37Chr 17, 41244045: 41244045
421BRCA1NM_007294.3(BRCA1): c.3612delA (p.Ala1206Profs)deletionPathogenicrs80357980GRCh37Chr 17, 41243936: 41243936
422BRCA1NM_007294.3(BRCA1): c.3648dupA (p.Ser1217Ilefs)duplicationPathogenicrs80357902GRCh37Chr 17, 41243899: 41243900
423BRCA1NM_007294.3: c.3671_3672ins4insertionPathogenicGRCh37Chr 17, 41243876: 41243877
424BRCA1NM_007294.3(BRCA1): c.3683delA (p.His1228Profs)deletionPathogenicrs397507217GRCh37Chr 17, 41243865: 41243865
425BRCA1NM_007294.3(BRCA1): c.3689T> G (p.Leu1230Ter)single nucleotide variantPathogenicrs80357162GRCh37Chr 17, 41243859: 41243859
426BRCA1NM_007294.3(BRCA1): c.3759_3760delTA (p.Lys1254Glufs)deletionPathogenicrs80357520GRCh37Chr 17, 41243788: 41243789
427BRCA1NM_007294.3(BRCA1): c.3771_3772delGGinsC (p.Glu1257Aspfs)indelPathogenicrs397507218GRCh37Chr 17, 41243776: 41243777
428BRCA1NM_007294.3(BRCA1): c.3825dupA (p.Leu1276Ilefs)duplicationPathogenicrs397507220GRCh37Chr 17, 41243722: 41243723
429BRCA1NM_007294.3(BRCA1): c.3852_3853insAC (p.Leu1285Thrfs)insertionPathogenicrs397507221GRCh37Chr 17, 41243695: 41243696
430BRCA1NM_007294.3(BRCA1): c.3852delC (p.Ser1286Valfs)deletionPathogenicrs397507222GRCh37Chr 17, 41243696: 41243696
431BRCA1NM_007294.3(BRCA1): c.3858_3861delTGAG (p.Ser1286Argfs)deletionPathogenicrs80357889GRCh37Chr 17, 41243687: 41243690
432BRCA1NM_007294.3(BRCA1): c.3868A> T (p.Lys1290Ter)single nucleotide variantPathogenicrs80357254GRCh37Chr 17, 41243680: 41243680
433BRCA1NM_007294.3(BRCA1): c.3991C> T (p.Gln1331Ter)single nucleotide variantPathogenicrs397507224GRCh37Chr 17, 41243557: 41243557
434BRCA1NM_007294.3(BRCA1): c.4015G> T (p.Glu1339Ter)single nucleotide variantPathogenicrs80357021GRCh37Chr 17, 41243533: 41243533
435BRCA1NM_007294.3(BRCA1): c.4096+1G> Asingle nucleotide variantPathogenicrs80358178GRCh37Chr 17, 41243451: 41243451
436BRCA1NM_007294.3(BRCA1): c.4096+3A> Gsingle nucleotide variantPathogenicrs80358015GRCh37Chr 17, 41243449: 41243449
437BRCA1NM_007294.3(BRCA1): c.4097-1G> Asingle nucleotide variantPathogenicrs80358070GRCh37Chr 17, 41243050: 41243050
438BRCA1NM_007294.3(BRCA1): c.4116_4117delTG (p.Cys1372Terfs)deletionPathogenicrs80357804GRCh37Chr 17, 41243029: 41243030
439BRCA1NM_007294.3(BRCA1): c.4117G> T (p.Glu1373Ter)single nucleotide variantPathogenicrs80357259GRCh37Chr 17, 41243029: 41243029
440BRCA1NM_007294.3(BRCA1): c.4148C> G (p.Ser1383Ter)single nucleotide variantPathogenicrs80357071GRCh37Chr 17, 41242998: 41242998
441BRCA1NM_007294.3: c.4185+2_4185+22del21insAindelPathogenicrs273900724GRCh37Chr 17, 41242939: 41242959
442BRCA1NM_007294.3(BRCA1): c.4243delG (p.Glu1415Lysfs)deletionPathogenicrs80357981GRCh37Chr 17, 41234535: 41234535
443BRCA1NM_007294.3(BRCA1): c.4251_4252delGT (p.Leu1418Argfs)deletionPathogenicrs80357977GRCh37Chr 17, 41234526: 41234527
444BRCA1NM_007294.3(BRCA1): c.427G> T (p.Glu143Ter)single nucleotide variantPathogenicrs80356991GRCh37Chr 17, 41256153: 41256153
445BRCA1NM_007294.3(BRCA1): c.4387delT (p.Tyr1463Thrfs)deletionPathogenicrs397507229GRCh37Chr 17, 41228602: 41228602
446BRCA1NM_007294.3: c.4388_4389ins7insertionPathogenicGRCh37Chr 17, 41228600: 41228601
447BRCA1NM_007294.3(BRCA1): c.4391_4393delCTAinsTT (p.Pro1464Leufs)indelPathogenicrs273900730GRCh37Chr 17, 41228596: 41228598
448BRCA1NM_007294.3(BRCA1): c.4391delC (p.Pro1464Leufs)deletionPathogenicrs80357916GRCh37Chr 17, 41228598: 41228598
449BRCA1NM_007294.3(BRCA1): c.4393delA (p.Ile1465Terfs)deletionPathogenicrs397507230GRCh37Chr 17, 41228596: 41228596
450BRCA1NM_007294.3(BRCA1): c.4427dupA (p.Phe1477Valfs)duplicationPathogenicrs397507231GRCh37Chr 17, 41228561: 41228562
451BRCA1NM_007294.3(BRCA1): c.4482_4483delAA (p.Arg1495Valfs)deletionPathogenicrs80357854GRCh37Chr 17, 41228506: 41228507
452BRCA1NM_007294.3(BRCA1): c.4484+1G> Asingle nucleotide variantPathogenicrs80358063GRCh37Chr 17, 41228504: 41228504
453BRCA1NM_007294.3(BRCA1): c.4484G> A (p.Arg1495Lys)single nucleotide variantPathogenicrs80357389GRCh37Chr 17, 41228505: 41228505
454BRCA1NM_007294.3(BRCA1): c.466dupC (p.Leu156Profs)duplicationPathogenicrs397507236GRCh37Chr 17, 41251872: 41251873
455BRCA1NM_007294.3(BRCA1): c.4749_4750delAG (p.Arg1583Serfs)deletionPathogenicrs80357641GRCh37Chr 17, 41223181: 41223182
456BRCA1NM_007294.3(BRCA1): c.4775_4779delACATAinsC (p.Asn1592Thrfs)indelPathogenicrs397507237GRCh37Chr 17, 41223152: 41223156
457BRCA1NM_007294.3(BRCA1): c.4986+1G> Tsingle nucleotide variantPathogenicrs80358162GRCh37Chr 17, 41222944: 41222944
458BRCA1NM_007294.3(BRCA1): c.4986+4A> Csingle nucleotide variantPathogenicrs80358087GRCh37Chr 17, 41222941: 41222941
459BRCA1NM_007294.3(BRCA1): c.5030_5033delCTAA (p.Thr1677Ilefs)deletionPathogenicrs80357862GRCh37Chr 17, 41219666: 41219669
460BRCA1NM_007294.3(BRCA1): c.5035_5039delCTAAT (p.Leu1679Tyrfs)deletionPathogenicrs80357623GRCh37Chr 17, 41219660: 41219664
461BRCA1NM_007294.3(BRCA1): c.5066T> G (p.Met1689Arg)single nucleotide variantPathogenicrs80357061GRCh37Chr 17, 41219633: 41219633
462BRCA1NM_007294.3(BRCA1): c.5068A> T (p.Lys1690Ter)single nucleotide variantPathogenicrs397507239GRCh37Chr 17, 41219631: 41219631
463BRCA1NM_007294.3(BRCA1): c.5074+1G> Tsingle nucleotide variantLikely pathogenic, Pathogenicrs80358053GRCh37Chr 17, 41219624: 41219624
464BRCA1NM_007294.3(BRCA1): c.5074+2T> Csingle nucleotide variantPathogenicrs80358089GRCh37Chr 17, 41219623: 41219623
465BRCA1NM_007294.3(BRCA1): c.5074G> A (p.Asp1692Asn)single nucleotide variantLikely pathogenic, Pathogenicrs80187739GRCh37Chr 17, 41219625: 41219625
466BRCA1NM_007294.3(BRCA1): c.5074G> C (p.Asp1692His)single nucleotide variantPathogenicrs80187739GRCh37Chr 17, 41219625: 41219625
467BRCA1NM_007294.3(BRCA1): c.5117G> A (p.Gly1706Glu)single nucleotide variantLikely pathogenicrs80356860GRCh37Chr 17, 41215926: 41215926
468BRCA1NM_007294.3(BRCA1): c.5152+1G> Csingle nucleotide variantPathogenicrs80358094GRCh37Chr 17, 41215890: 41215890
469BRCA1NM_007294.3(BRCA1): c.5153-1G> Csingle nucleotide variantLikely pathogenic, Pathogenicrs80358137GRCh37Chr 17, 41215391: 41215391
470BRCA1NM_007294.3: c.5232_5238delAAACCACins12indelPathogenicGRCh37Chr 17, 41209108: 41209114
471BRCA1NM_007294.3(BRCA1): c.5259delA (p.Glu1754Asnfs)deletionPathogenicrs80357925GRCh37Chr 17, 41209087: 41209087
472BRCA1NM_007294.3(BRCA1): c.5297T> G (p.Ile1766Ser)single nucleotide variantPathogenicrs80357463GRCh37Chr 17, 41203115: 41203115
473BRCA1NM_007294.3(BRCA1): c.5363G> T (p.Gly1788Val)single nucleotide variantPathogenicrs80357069GRCh37Chr 17, 41201181: 41201181
474BRCA1NM_007294.3(BRCA1): c.5386delT (p.Ser1796Hisfs)deletionPathogenicrs397507249GRCh37Chr 17, 41201158: 41201158
475BRCA1NM_007294.3(BRCA1): c.5387C> A (p.Ser1796Ter)single nucleotide variantPathogenicrs80357055GRCh37Chr 17, 41201157: 41201157
476BRCA1NM_007294.3(BRCA1): c.5406+1G> Asingle nucleotide variantPathogenicrs80358028GRCh37Chr 17, 41201137: 41201137
477BRCA1NM_007294.3(BRCA1): c.5406+5G> Tsingle nucleotide variantPathogenicrs80358073GRCh37Chr 17, 41201133: 41201133
478BRCA1NM_007294.3(BRCA1): c.5417delC (p.Pro1806Glnfs)deletionPathogenicrs80357558GRCh37Chr 17, 41199710: 41199710
479BRCA1NM_007294.3(BRCA1): c.5453A> G (p.Asp1818Gly)single nucleotide variantPathogenicrs80357477GRCh37Chr 17, 41199674: 41199674
480BRCA1NM_007294.3(BRCA1): c.5467+1G> Asingle nucleotide variantPathogenicrs80358145GRCh37Chr 17, 41199659: 41199659
481BRCA1NM_007294.3(BRCA1): c.547+2T> Asingle nucleotide variantPathogenicrs80358047GRCh37Chr 17, 41251790: 41251790
482BRCA1NM_007294.3(BRCA1): c.5578dupC (p.His1860Profs)duplicationLikely pathogenicrs397507254GRCh37Chr 17, 41197708: 41197709
483BRCA1NM_007294.3(BRCA1): c.66dupA (p.Glu23Argfs)duplicationPathogenicrs80357783GRCh37Chr 17, 41276047: 41276048
484BRCA1NM_007294.3(BRCA1): c.783T> G (p.Tyr261Ter)single nucleotide variantPathogenicrs80357321GRCh37Chr 17, 41246765: 41246765
485BRCA1NM_007294.3: c.824_825ins10insertionPathogenicGRCh37Chr 17, 41246723: 41246724
486BRCA1NM_007294.3(BRCA1): c.85G> T (p.Glu29Ter)single nucleotide variantPathogenicrs80357443GRCh37Chr 17, 41267792: 41267792
487BRCA1NM_007294.3(BRCA1): c.952_1015del64 (p.His318Argfs)deletionPathogenicrs80359872GRCh37Chr 17, 41246533: 41246596
488BRCA1NM_007294.3(BRCA1): c.962G> A (p.Trp321Ter)single nucleotide variantPathogenicrs80357292GRCh37Chr 17, 41246586: 41246586
489BRCA2NM_000059.3(BRCA2): c.1029delA (p.Lys343Asnfs)deletionPathogenicrs80359260GRCh37Chr 13, 32906644: 32906644
490BRCA2NM_000059.3(BRCA2): c.1156delG (p.Glu386Lysfs)deletionPathogenicrs397507262GRCh37Chr 13, 32906771: 32906771
491BRCA2NM_000059.3: c.1189_1190ins4insertionPathogenicGRCh37Chr 13, 32906804: 32906805
492BRCA2NM_000059.3(BRCA2): c.1253C> A (p.Ser418Ter)single nucleotide variantPathogenicrs397507266GRCh37Chr 13, 32906868: 32906868
493BRCA2NM_000059.3(BRCA2): c.1296_1297delGA (p.Asn433Glnfs)deletionPathogenicrs80359276GRCh37Chr 13, 32906911: 32906912
494BRCA2NM_000059.3(BRCA2): c.1593dupA (p.Glu532Argfs)duplicationPathogenicrs397507272GRCh37Chr 13, 32907208: 32907209
495BRCA2NM_000059.3(BRCA2): c.1705C> A (p.Gln569Lys)single nucleotide variantPathogenicrs397507274GRCh37Chr 13, 32907320: 32907320
496BRCA2NM_000059.3(BRCA2): c.1799A> G (p.Tyr600Cys)single nucleotide variantPathogenicrs397507276GRCh37Chr 13, 32907414: 32907414
497BRCA2NM_000059.3(BRCA2): c.1850C> A (p.Ser617Ter)single nucleotide variantPathogenicrs397507278GRCh37Chr 13, 32907465: 32907465
498BRCA2NM_000059.3(BRCA2): c.1850C> G (p.Ser617Ter)single nucleotide variantPathogenicrs397507278GRCh37Chr 13, 32907465: 32907465
499BRCA2NM_000059.3(BRCA2): c.1970T> A (p.Leu657Ter)single nucleotide variantPathogenicrs397507279GRCh37Chr 13, 32910462: 32910462
500BRCA2NM_000059.3(BRCA2): c.2036delA (p.Asn679Ilefs)deletionPathogenicrs80359318GRCh37Chr 13, 32910528: 32910528
501BRCA2NM_000059.3(BRCA2): c.2092delC (p.Leu698Tyrfs)deletionPathogenicrs80359322GRCh37Chr 13, 32910584: 32910584
502BRCA2NM_000059.3(BRCA2): c.2175dupA (p.Val726Serfs)duplicationPathogenicrs276174819GRCh37Chr 13, 32910667: 32910668
503BRCA2NM_000059.3(BRCA2): c.2231C> G (p.Ser744Ter)single nucleotide variantPathogenicrs397507282GRCh37Chr 13, 32910723: 32910723
504BRCA2NM_000059.3(BRCA2): c.2324delC (p.Lys776Argfs)deletionPathogenicrs397507284GRCh37Chr 13, 32910816: 32910816
505BRCA2NM_000059.3(BRCA2): c.2409T> G (p.Tyr803Ter)single nucleotide variantPathogenicrs80358504GRCh37Chr 13, 32910901: 32910901
506BRCA2NM_000059.3(BRCA2): c.2426T> G (p.Leu809Ter)single nucleotide variantPathogenicrs397507285GRCh37Chr 13, 32910918: 32910918
507BRCA2NM_000059.3(BRCA2): c.2588dupA (p.Asn863Lysfs)duplicationPathogenicrs80359338GRCh37Chr 13, 32911080: 32911080
508BRCA2NM_000059.3(BRCA2): c.2618_2619delTA (p.Ile873Asnfs)deletionPathogenicrs397507290GRCh37Chr 13, 32911110: 32911111
509BRCA2NM_000059.3(BRCA2): c.2658_2659delTG (p.Asn886Lysfs)deletionPathogenicrs397507291GRCh37Chr 13, 32911150: 32911151
510BRCA2NM_000059.3(BRCA2): c.274C> T (p.Gln92Ter)single nucleotide variantPathogenicrs80358529GRCh37Chr 13, 32893420: 32893420
511BRCA2NM_000059.3(BRCA2): c.2979G> A (p.Trp993Ter)single nucleotide variantPathogenicrs80358544GRCh37Chr 13, 32911471: 32911471
512BRCA2NM_000059.3(BRCA2): c.3073A> T (p.Lys1025Ter)single nucleotide variantPathogenicrs80358550GRCh37Chr 13, 32911565: 32911565
513BRCA2NM_000059.3(BRCA2): c.3109C> T (p.Gln1037Ter)single nucleotide variantPathogenicrs80358557GRCh37Chr 13, 32911601: 32911601
514BRCA2NM_000059.3(BRCA2): c.3158T> G (p.Leu1053Ter)single nucleotide variantPathogenicrs41293477GRCh37Chr 13, 32911650: 32911650
515BRCA2NM_000059.3(BRCA2): c.316+1G> Asingle nucleotide variantPathogenicrs397507303GRCh37Chr 13, 32893463: 32893463
516BRCA2NM_000059.3(BRCA2): c.316+1G> Csingle nucleotide variantPathogenicrs397507303GRCh37Chr 13, 32893463: 32893463
517BRCA2NM_000059.3(BRCA2): c.3160_3163delGATA (p.Asp1054Ilefs)deletionPathogenicrs80359371GRCh37Chr 13, 32911652: 32911655
518BRCA2NM_000059.3(BRCA2): c.3182delA (p.Lys1061Serfs)deletionPathogenicrs397507304GRCh37Chr 13, 32911674: 32911674
519BRCA2NM_000059.3(BRCA2): c.3308T> G (p.Leu1103Ter)single nucleotide variantPathogenicrs397507305GRCh37Chr 13, 32911800: 32911800
520BRCA2NM_000059.3(BRCA2): c.3848dupT (p.Ser1284Lysfs)duplicationPathogenicrs397507317GRCh37Chr 13, 32912340: 32912341
521BRCA2NM_000059.3(BRCA2): c.3865_3868delAAAT (p.Lys1289Alafs)deletionPathogenicrs80359412GRCh37Chr 13, 32912357: 32912360
522BRCA2NM_000059.3(BRCA2): c.389delT (p.Ser131Profs)deletionPathogenicrs397507318GRCh37Chr 13, 32899285: 32899285
523BRCA2NM_000059.3(BRCA2): c.396T> A (p.Cys132Ter)single nucleotide variantPathogenicrs397507320GRCh37Chr 13, 32899292: 32899292
524BRCA2NM_000059.3: c.3978_3979ins4insertionPathogenicGRCh37Chr 13, 32912470: 32912471
525BRCA2NM_000059.3(BRCA2): c.3G> T (p.Met1Ile)single nucleotide variantPathogenicrs80358650GRCh37Chr 13, 32890600: 32890600
526BRCA2NM_000059.3(BRCA2): c.3delG (p.Met1Ilefs)deletionPathogenicrs80359418GRCh37Chr 13, 32890600: 32890600
527BRCA2NM_000059.3(BRCA2): c.4013delG (p.Gly1338Alafs)deletionPathogenicrs397507321GRCh37Chr 13, 32912505: 32912505
528BRCA2NM_000059.3(BRCA2): c.4058_4062delAAACG (p.Glu1353Glyfs)deletionPathogenicrs397507322GRCh37Chr 13, 32912550: 32912554
529BRCA2NM_000059.3(BRCA2): c.4092_4093delAT (p.Ile1364Metfs)deletionPathogenicrs80359426GRCh37Chr 13, 32912584: 32912585
530BRCA2NM_000059.3(BRCA2): c.4127_4130delGAAA (p.Gly1376Alafs)deletionPathogenicrs397507323GRCh37Chr 13, 32912619: 32912622
531BRCA2NM_000059.3: c.4131_4132ins6insertionPathogenicGRCh37Chr 13, 32912623: 32912624
532BRCA2NM_000059.3(BRCA2): c.4151T> A (p.Leu1384Ter)single nucleotide variantPathogenicrs397507325GRCh37Chr 13, 32912643: 32912643
533BRCA2NM_000059.3(BRCA2): c.4163_4164delCTinsA (p.Thr1388Asnfs)indelPathogenicrs276174843GRCh37Chr 13, 32912655: 32912656
534BRCA2NM_000059.3(BRCA2): c.4222C> T (p.Gln1408Ter)single nucleotide variantPathogenicrs80358663GRCh37Chr 13, 32912714: 32912714
535BRCA2NM_000059.3(BRCA2): c.4243G> T (p.Glu1415Ter)single nucleotide variantPathogenicrs397507327GRCh37Chr 13, 32912735: 32912735
536BRCA2NM_000059.3(BRCA2): c.4319_4320delAA (p.Lys1440Argfs)deletionPathogenicrs397507328GRCh37Chr 13, 32912811: 32912812
537BRCA2NM_000059.3(BRCA2): c.4405_4409delGACAT (p.Asp1469Lysfs)deletionPathogenicrs397507331GRCh37Chr 13, 32912897: 32912901
538BRCA2NM_000059.3(BRCA2): c.4414_4415delAA (p.Lys1472Glufs)deletionPathogenicrs397507332GRCh37Chr 13, 32912906: 32912907
539BRCA2NM_000059.3(BRCA2): c.4415_4418delAGAA (p.Lys1472Thrfs)deletionPathogenicrs397507333GRCh37Chr 13, 32912907: 32912910
540BRCA2NM_000059.3(BRCA2): c.4449delA (p.Asp1484Thrfs)deletionPathogenicrs80359448GRCh37Chr 13, 32912941: 32912941
541BRCA2NM_000059.3(BRCA2): c.4470dupA (p.Leu1491Thrfs)duplicationPathogenicrs397507334GRCh37Chr 13, 32912962: 32912963
542BRCA2NM_000059.3(BRCA2): c.4472_4475delTGAA (p.Leu1491Glnfs)deletionPathogenicrs80359452GRCh37Chr 13, 32912964: 32912967
543BRCA2NM_000059.3(BRCA2): c.4638delT (p.Phe1546Leufs)deletionPathogenicrs80359462GRCh37Chr 13, 32913130: 32913130
544BRCA2NM_000059.3(BRCA2): c.4712_4713delAG (p.Glu1571Glyfs)deletionPathogenicrs397507339GRCh37Chr 13, 32913204: 32913205
545BRCA2NM_000059.3(BRCA2): c.475+4delTdeletionLikely pathogenicrs276174848GRCh37Chr 13, 32900291: 32900291
546BRCA2NM_000059.3(BRCA2): c.476-1G> Asingle nucleotide variantPathogenicrs397507340GRCh37Chr 13, 32900378: 32900378
547BRCA2NM_000059.3(BRCA2): c.4921_4924delGAAA (p.Glu1641Metfs)deletionPathogenicrs397507344GRCh37Chr 13, 32913413: 32913416
548BRCA2NM_000059.3(BRCA2): c.5000C> G (p.Ser1667Ter)single nucleotide variantPathogenicrs397507346GRCh37Chr 13, 32913492: 32913492
549BRCA2NM_000059.3(BRCA2): c.5035delA (p.Thr1679Leufs)deletionPathogenicrs80359477GRCh37Chr 13, 32913527: 32913527
550BRCA2NM_000059.3(BRCA2): c.5042_5043delTG (p.Val1681Glufs)deletionPathogenicrs80359478GRCh37Chr 13, 32913534: 32913535
551BRCA2NM_000059.3(BRCA2): c.5080A> T (p.Arg1694Ter)single nucleotide variantPathogenicrs200265692GRCh37Chr 13, 32913572: 32913572
552BRCA2NM_000059.3(BRCA2): c.518delG (p.Gly173Valfs)deletionPathogenicrs80359492GRCh37Chr 13, 32900637: 32900637
553BRCA2NM_000059.3(BRCA2): c.5213_5216delCTTA (p.Thr1738Ilefs)deletionPathogenicrs80359493GRCh37Chr 13, 32913705: 32913708
554BRCA2NM_000059.3(BRCA2): c.5266_5269delGTAT (p.Val1756Ilefs)deletionPathogenicrs80359501GRCh37Chr 13, 32913758: 32913761
555BRCA2NM_000059.3(BRCA2): c.5290_5291delTC (p.Ser1764Lysfs)deletionPathogenicrs80359503GRCh37Chr 13, 32913782: 32913783
556BRCA2NM_000059.3(BRCA2): c.5303_5304delTT (p.Leu1768Argfs)deletionPathogenicrs80359505GRCh37Chr 13, 32913795: 32913796
557BRCA2NM_000059.3(BRCA2): c.5351delA (p.Asn1784Thrfs)deletionPathogenicrs80359509GRCh37Chr 13, 32913843: 32913843
558BRCA2NM_000059.3(BRCA2): c.539_540insAT (p.Ser181Phefs)insertionPathogenicrs80359511GRCh37Chr 13, 32900658: 32900659
559BRCA2NM_000059.3(BRCA2): c.5436delA (p.Glu1812Aspfs)deletionPathogenicrs397507351GRCh37Chr 13, 32913928: 32913928
560BRCA2NM_000059.3(BRCA2): c.5471dupA (p.Asn1824Lysfs)duplicationPathogenicrs80359515GRCh37Chr 13, 32913963: 32913963
561BRCA2NM_000059.3(BRCA2): c.5498delA (p.Asn1833Ilefs)deletionPathogenicrs397507353GRCh37Chr 13, 32913990: 32913990
562BRCA2NM_000059.3(BRCA2): c.5577delT (p.Val1862Terfs)deletionPathogenicrs397507355GRCh37Chr 13, 32914069: 32914069
563BRCA2NM_000059.3(BRCA2): c.5595_5596delAT (p.Phe1866Tyrfs)deletionPathogenicrs80359524GRCh37Chr 13, 32914087: 32914088
564BRCA2NM_000059.3(BRCA2): c.5603_5606delACAG (p.Asp1868Valfs)deletionPathogenicrs397507356GRCh37Chr 13, 32914095: 32914098
565BRCA2NM_000059.3(BRCA2): c.5614A> T (p.Lys1872Ter)single nucleotide variantPathogenicrs80358783GRCh37Chr 13, 32914106: 32914106
566BRCA2NM_000059.3(BRCA2): c.5631delC (p.Asn1877Lysfs)deletionPathogenicrs397507357GRCh37Chr 13, 32914123: 32914123
567BRCA2NM_000059.3(BRCA2): c.5655C> A (p.Cys1885Ter)single nucleotide variantPathogenicrs80358789GRCh37Chr 13, 32914147: 32914147
568BRCA2NM_000059.3(BRCA2): c.5782G> T (p.Glu1928Ter)single nucleotide variantPathogenicrs56253082GRCh37Chr 13, 32914274: 32914274
569BRCA2NM_000059.3(BRCA2): c.582G> A (p.Trp194Ter)single nucleotide variantPathogenicrs80358810GRCh37Chr 13, 32900701: 32900701
570BRCA2NM_000059.3(BRCA2): c.5855T> A (p.Leu1952Ter)single nucleotide variantPathogenicrs375064902GRCh37Chr 13, 32914347: 32914347
571BRCA2NM_000059.3(BRCA2): c.5980C> T (p.Gln1994Ter)single nucleotide variantPathogenicrs80358831GRCh37Chr 13, 32914472: 32914472
572BRCA2NM_000059.3(BRCA2): c.6011_6017delAAGATAG (p.Glu2004Valfs)deletionPathogenicrs397507362GRCh37Chr 13, 32914503: 32914509
573BRCA2NM_000059.3(BRCA2): c.6206T> G (p.Leu2069Ter)single nucleotide variantPathogenicrs80358859GRCh37Chr 13, 32914698: 32914698
574BRCA2NM_000059.3(BRCA2): c.631G> C (p.Val211Leu)single nucleotide variantPathogenicrs80358871GRCh37Chr 13, 32900750: 32900750
575BRCA2NM_000059.3(BRCA2): c.6333_6337delGAGAA (p.Arg2112Profs)deletionPathogenicrs397507369GRCh37Chr 13, 32914825: 32914829
576BRCA2NM_000059.3(BRCA2): c.6373dupA (p.Thr2125Asnfs)duplicationPathogenicrs80359577GRCh37Chr 13, 32914865: 32914865
577BRCA2NM_000059.3(BRCA2): c.6405_6409delCTTAA (p.Asn2135Lysfs)deletionPathogenicrs80359585GRCh37Chr 13, 32914897: 32914901
578BRCA2NM_000059.3(BRCA2): c.6434_6441delATAATCAC (p.Asn2145Ilefs)deletionPathogenicrs397507371GRCh37Chr 13, 32914926: 32914933
579BRCA2NM_000059.3(BRCA2): c.6444dupT (p.Ile2149Tyrfs)duplicationPathogenicrs80359590GRCh37Chr 13, 32914936: 32914936
580BRCA2NM_000059.3(BRCA2): c.6535_6536insA (p.Val2179Aspfs)insertionPathogenicrs80359601GRCh37Chr 13, 32915027: 32915028
581BRCA2NM_000059.3(BRCA2): c.6566dupA (p.Asn2189Lysfs)duplicationPathogenicrs397507373GRCh37Chr 13, 32915058: 32915059
582BRCA2NM_000059.3(BRCA2): c.6724_6725delGA (p.Asp2242Phefs)deletionPathogenicrs397507375GRCh37Chr 13, 32915216: 32915217
583BRCA2NM_000059.3(BRCA2): c.688A> T (p.Lys230Ter)single nucleotide variantPathogenicrs80358913GRCh37Chr 13, 32905062: 32905062
584BRCA2NM_000059.3(BRCA2): c.6941delC (p.Thr2314Lysfs)deletionPathogenicrs80359628GRCh37Chr 13, 32920967: 32920967
585BRCA2NM_000059.3(BRCA2): c.6952C> T (p.Arg2318Ter)single nucleotide variantPathogenicrs80358920GRCh37Chr 13, 32920978: 32920978
586BRCA2NM_000059.3(BRCA2): c.700delT (p.Ser234Profs)deletionPathogenicrs80359633GRCh37Chr 13, 32905074: 32905074
587BRCA2NM_000059.3(BRCA2): c.7133C> G (p.Ser2378Ter)single nucleotide variantPathogenicrs276174889GRCh37Chr 13, 32929123: 32929123
588BRCA2NM_000059.3(BRCA2): c.7185_7190delCTTGATinsAG (p.His2395Glnfs)indelPathogenicrs397507383GRCh37Chr 13, 32929175: 32929180
589BRCA2NM_000059.3(BRCA2): c.7235C> T (p.Thr2412Ile)single nucleotide variantPathogenicrs397507384GRCh37Chr 13, 32929225: 32929225
590BRCA2NM_000059.3(BRCA2): c.7258G> T (p.Glu2420Ter)single nucleotide variantPathogenicrs397507385GRCh37Chr 13, 32929248: 32929248
591BRCA2NM_000059.3(BRCA2): c.7342_7343delAA (p.Lys2448Aspfs)deletionPathogenicrs397507386GRCh37Chr 13, 32929332: 32929333
592BRCA2NM_000059.3(BRCA2): c.7379_7382delACAA (p.Asn2460Thrfs)deletionPathogenicrs80359648GRCh37Chr 13, 32929369: 32929372
593BRCA2NM_000059.3(BRCA2): c.740_741insAG (p.Ser249Leufs)insertionPathogenicrs397507387GRCh37Chr 13, 32905114: 32905115
594BRCA2NM_000059.3(BRCA2): c.7412_7421delCAAAGTGTGA (p.Thr2471Lysfs)deletionPathogenicrs80359649GRCh37Chr 13, 32929402: 32929411
595BRCA2NM_000059.3(BRCA2): c.7419_7420delTG (p.Cys2473Terfs)deletionPathogenicrs80359651GRCh37Chr 13, 32929409: 32929410
596BRCA2NM_000059.3(BRCA2): c.7543dupA (p.Thr2515Asnfs)duplicationPathogenicrs80359657GRCh37Chr 13, 32930672: 32930673
597BRCA2NM_000059.3(BRCA2): c.755_758delACAG (p.Asp252Valfs)deletionPathogenicrs80359659GRCh37Chr 13, 32905129: 32905132
598BRCA2NM_000059.3(BRCA2): c.7567_7568delCT (p.Leu2523Glufs)deletionPathogenicrs80359664GRCh37Chr 13, 32930696: 32930697
599BRCA2NM_000059.3(BRCA2): c.7758G> A (p.Trp2586Ter)single nucleotide variantPathogenicrs80359004GRCh37Chr 13, 32932019: 32932019
600BRCA2NM_000059.3: c.7762_7764delATAins2indelPathogenicGRCh37Chr 13, 32932023: 32932025
601BRCA2NM_000059.3(BRCA2): c.7857G> A (p.Trp2619Ter)single nucleotide variantPathogenicrs80359011GRCh37Chr 13, 32936711: 32936711
602BRCA2NM_000059.3(BRCA2): c.7878G> A (p.Trp2626Ter)single nucleotide variantPathogenicrs80359013GRCh37Chr 13, 32936732: 32936732
603BRCA2NM_000059.3(BRCA2): c.7963C> T (p.Gln2655Ter)single nucleotide variantPathogenicrs397507395GRCh37Chr 13, 32936817: 32936817
604BRCA2NM_000059.3(BRCA2): c.7974C> G (p.Tyr2658Ter)single nucleotide variantPathogenicrs80359025GRCh37Chr 13, 32936828: 32936828
605BRCA2NM_000059.3(BRCA2): c.7977-1G> Csingle nucleotide variantPathogenicrs81002874GRCh37Chr 13, 32937315: 32937315
606BRCA2NM_000059.3: c.7977-3_7977-1del3ins2indelPathogenicGRCh37Chr 13, 32937313: 32937315
607BRCA2NM_000059.3(BRCA2): c.8205_8206delCC (p.Leu2737Serfs)deletionPathogenicrs397507396GRCh37Chr 13, 32937544: 32937545
608BRCA2NM_000059.3(BRCA2): c.8253dupT (p.Ile2752Tyrfs)duplicationPathogenicrs80359704GRCh37Chr 13, 32937592: 32937593
609BRCA2NM_000059.3(BRCA2): c.826_830delGTAAA (p.Val276Terfs)deletionPathogenicrs397507400GRCh37Chr 13, 32906441: 32906445
610BRCA2NM_000059.3(BRCA2): c.8297delC (p.Thr2766Asnfs)deletionPathogenicrs80359705GRCh37Chr 13, 32937636: 32937636
611BRCA2NM_000059.3(BRCA2): c.8322dupT (p.Met2775Tyrfs)duplicationPathogenicrs80359706GRCh37Chr 13, 32937661: 32937661
612BRCA2NM_000059.3(BRCA2): c.8331+1G> Asingle nucleotide variantPathogenicrs81002837GRCh37Chr 13, 32937671: 32937671
613BRCA2NM_000059.3(BRCA2): c.8414_8416delTATinsC (p.Leu2805Serfs)indelPathogenicrs397507402GRCh37Chr 13, 32944621: 32944623
614BRCA2NM_000059.3(BRCA2): c.8487+1G> Tsingle nucleotide variantPathogenicrs81002798GRCh37Chr 13, 32944695: 32944695
615BRCA2NM_000059.3(BRCA2): c.8488-1G> Asingle nucleotide variantLikely pathogenicrs397507404GRCh37Chr 13, 32945092: 32945092
616BRCA2NM_000059.3(BRCA2): c.8501delC (p.Thr2834Asnfs)deletionPathogenicrs80359712GRCh37Chr 13, 32945106: 32945106
617BRCA2NM_000059.3(BRCA2): c.8548_8551delGAAG (p.Glu2850Glnfs)deletionPathogenicrs397507406GRCh37Chr 13, 32945153: 32945156
618BRCA2NM_000059.3(BRCA2): c.8585dupT (p.Glu2863Argfs)duplicationPathogenicrs80359720GRCh37Chr 13, 32945190: 32945190
619BRCA2NM_000059.3(BRCA2): c.8633-2A> Gsingle nucleotide variantPathogenicrs81002886GRCh37Chr 13, 32950805: 32950805
620BRCA2NM_000059.3(BRCA2): c.8677C> T (p.Gln2893Ter)single nucleotide variantPathogenicrs397507409GRCh37Chr 13, 32950851: 32950851
621BRCA2NM_000059.3(BRCA2): c.8680delC (p.Gln2894Lysfs)deletionPathogenicrs397507410GRCh37Chr 13, 32950854: 32950854
622BRCA2NM_000059.3(BRCA2): c.8695C> T (p.Gln2899Ter)single nucleotide variantPathogenicrs397507411GRCh37Chr 13, 32950869: 32950869
623BRCA2NM_000059.3(BRCA2): c.8754+2T> Gsingle nucleotide variantPathogenicrs397507412GRCh37Chr 13, 32950930: 32950930
624BRCA2NM_000059.3(BRCA2): c.8754+5G> Asingle nucleotide variantPathogenicrs81002813GRCh37Chr 13, 32950933: 32950933
625BRCA2NM_000059.3(BRCA2): c.8869C> T (p.Gln2957Ter)single nucleotide variantPathogenicrs276174913GRCh37Chr 13, 32953568: 32953568
626BRCA2NM_000059.3(BRCA2): c.8940dupA (p.Glu2981Argfs)duplicationPathogenicrs80359732GRCh37Chr 13, 32953639: 32953640
627BRCA2NM_000059.3(BRCA2): c.8946dupA (p.Asp2983Argfs)duplicationPathogenicrs80359733GRCh37Chr 13, 32953645: 32953646
628BRCA2NM_000059.3(BRCA2): c.8951C> G (p.Ser2984Ter)single nucleotide variantPathogenicrs80359146GRCh37Chr 13, 32953650: 32953650
629BRCA2NM_000059.3(BRCA2): c.9026_9030delATCAT (p.Tyr3009Serfs)deletionPathogenicrs80359741GRCh37Chr 13, 32953959: 32953963
630BRCA2NM_000059.3(BRCA2): c.9060_9061insTT (p.Glu3021Leufs)insertionPathogenicrs397507418GRCh37Chr 13, 32953993: 32953994
631BRCA2NM_000059.3(BRCA2): c.9097delA (p.Thr3033Leufs)deletionPathogenicrs397507420GRCh37Chr 13, 32954030: 32954030
632BRCA2NM_000059.3(BRCA2): c.9235delG (p.Val3079Phefs)deletionPathogenicrs397507422GRCh37Chr 13, 32954261: 32954261
633BRCA2NM_000059.3(BRCA2): c.9274delT (p.Tyr3092Ilefs)deletionPathogenicrs397507424GRCh37Chr 13, 32968843: 32968843
634BRCA2NM_000059.3(BRCA2): c.9294C> A (p.Tyr3098Ter)single nucleotide variantPathogenicrs80359200GRCh37Chr 13, 32968863: 32968863
635BRCA2NM_000059.3(BRCA2): c.9401delG (p.Gly3134Alafs)deletionPathogenicrs80359759GRCh37Chr 13, 32968970: 32968970
636BRCA2NM_000059.3(BRCA2): c.9523G> T (p.Glu3175Ter)single nucleotide variantPathogenicrs397507430GRCh37Chr 13, 32971056: 32971056
637BRCA2NM_000059.3(BRCA2): c.9580_9581delCC (p.Pro3194Asnfs)deletionPathogenicrs80359771GRCh37Chr 13, 32971113: 32971114
638BRCA2NM_000059.3(BRCA2): c.9599C> G (p.Ser3200Ter)single nucleotide variantPathogenicrs80359230GRCh37Chr 13, 32971132: 32971132
639BRCA2NM_000059.3(BRCA2): c.998dupT (p.His334Profs)duplicationPathogenicrs397507437GRCh37Chr 13, 32906613: 32906614
640BRCA2NM_000059.3(BRCA2): c.5482_5486delAAATT (p.Lys1828Valfs)deletionPathogenicrs80359516GRCh37Chr 13, 32913974: 32913978
641BRCA2NM_000059.3(BRCA2): c.100G> T (p.Glu34Ter)single nucleotide variantPathogenicrs80358391GRCh37Chr 13, 32893246: 32893246
642BRCA2NM_000059.3(BRCA2): c.1103C> A (p.Ser368Ter)single nucleotide variantPathogenicrs80358407GRCh37Chr 13, 32906718: 32906718
643BRCA2NM_000059.3(BRCA2): c.1128delT (p.Phe376Leufs)deletionPathogenicrs80359263GRCh37Chr 13, 32906743: 32906743
644BRCA2NM_000059.3(BRCA2): c.1147delA (p.Ile383Serfs)deletionPathogenicrs80359265GRCh37Chr 13, 32906762: 32906762
645BRCA2NM_000059.3(BRCA2): c.1153A> T (p.Lys385Ter)single nucleotide variantPathogenicrs80358411GRCh37Chr 13, 32906768: 32906768
646BRCA2NM_000059.3(BRCA2): c.1202C> G (p.Ser401Ter)single nucleotide variantPathogenicrs80358413GRCh37Chr 13, 32906817: 32906817
647BRCA2NM_000059.3(BRCA2): c.1219delC (p.Gln407Argfs)deletionPathogenicrs80359267GRCh37Chr 13, 32906834: 32906834
648BRCA2NM_000059.3(BRCA2): c.1225delG (p.Glu409Argfs)deletionPathogenicrs80359268GRCh37Chr 13, 32906840: 32906840
649BRCA2NM_000059.3(BRCA2): c.1233dupA (p.Pro412Thrfs)duplicationPathogenicrs80359270GRCh37Chr 13, 32906848: 32906849
650BRCA2NM_000059.3(BRCA2): c.1278delA (p.Asp427Thrfs)deletionPathogenicrs80359274GRCh37Chr 13, 32906893: 32906893
651BRCA2NM_000059.3(BRCA2): c.128delA (p.Asn43Ilefs)deletionPathogenicrs80359275GRCh37Chr 13, 32893274: 32893274
652BRCA2NM_000059.3(BRCA2): c.1307delA (p.Lys436Argfs)deletionPathogenicrs80359278GRCh37Chr 13, 32906922: 32906922
653BRCA2NM_000059.3(BRCA2): c.1389_1390delAG (p.Val464Glyfs)deletionPathogenicrs80359283GRCh37Chr 13, 32907004: 32907005
654BRCA2NM_000059.3(BRCA2): c.1411G> T (p.Glu471Ter)single nucleotide variantPathogenicrs80358428GRCh37Chr 13, 32907026: 32907026
655BRCA2NM_000059.3(BRCA2): c.1414C> T (p.Gln472Ter)single nucleotide variantPathogenicrs80358429GRCh37Chr 13, 32907029: 32907029
656BRCA2NM_000059.3(BRCA2): c.1456C> T (p.Gln486Ter)single nucleotide variantPathogenicrs80358434GRCh37Chr 13, 32907071: 32907071
657BRCA2NM_000059.3(BRCA2): c.1496_1497delAG (p.Gln499Argfs)deletionPathogenicrs80359285GRCh37Chr 13, 32907111: 32907112
658BRCA2NM_000059.3(BRCA2): c.1499delG (p.Gly500Valfs)deletionPathogenicrs397507591GRCh37Chr 13, 32907114: 32907114
659BRCA2NM_000059.3(BRCA2): c.1511_1512delCT (p.Ser504Tyrfs)deletionPathogenicrs80359286GRCh37Chr 13, 32907126: 32907127
660BRCA2NM_000059.3(BRCA2): c.151delG (p.Glu51Asnfs)deletionPathogenicrs80359287GRCh37Chr 13, 32893297: 32893297
661BRCA2NM_000059.3(BRCA2): c.1528G> T (p.Glu510Ter)single nucleotide variantPathogenicrs80358438GRCh37Chr 13, 32907143: 32907143
662BRCA2NM_000059.3(BRCA2): c.1547delT (p.Phe516Serfs)deletionPathogenicrs80359289GRCh37Chr 13, 32907162: 32907162
663BRCA2NM_000059.3(BRCA2): c.1595_1599delAAACT (p.Glu532Glyfs)deletionPathogenicrs80359291GRCh37Chr 13, 32907210: 32907214
664BRCA2NM_000059.3(BRCA2): c.1597delA (p.Thr533Leufs)deletionPathogenicrs80359292GRCh37Chr 13, 32907212: 32907212
665BRCA2NM_000059.3(BRCA2): c.1599_1600delTG (p.Glu534Serfs)deletionPathogenicrs80359293GRCh37Chr 13, 32907214: 32907215
666BRCA2NM_000059.3(BRCA2): c.1617delA (p.Leu540Trpfs)deletionPathogenicrs80359294GRCh37Chr 13, 32907232: 32907232
667BRCA2NM_000059.3(BRCA2): c.1631_1632delCT (p.Thr544Serfs)deletionPathogenicrs80359295GRCh37Chr 13, 32907246: 32907247
668BRCA2NM_000059.3(BRCA2): c.1670T> G (p.Leu557Ter)single nucleotide variantPathogenicrs80358452GRCh37Chr 13, 32907285: 32907285
669BRCA2NM_000059.3(BRCA2): c.1681G> T (p.Gly561Ter)single nucleotide variantPathogenicrs80358455GRCh37Chr 13, 32907296: 32907296
670BRCA2NM_000059.3(BRCA2): c.1689G> A (p.Trp563Ter)single nucleotide variantPathogenicrs80358456GRCh37Chr 13, 32907304: 32907304
671BRCA2NM_000059.3(BRCA2): c.1705delC (p.Gln569Argfs)deletionPathogenicrs80359300GRCh37Chr 13, 32907320: 32907320
672BRCA2NM_000059.3(BRCA2): c.170dupA (p.Tyr57Terfs)duplicationPathogenicrs80359299GRCh37Chr 13, 32893316: 32893317
673BRCA2NM_000059.3(BRCA2): c.1754delA (p.Lys585Argfs)deletionPathogenicrs80359301GRCh37Chr 13, 32907369: 32907369
674BRCA2NM_000059.3(BRCA2): c.1773_1776delTTAT (p.Ile591Metfs)deletionPathogenicrs80359305GRCh37Chr 13, 32907388: 32907391
675BRCA2NM_000059.3(BRCA2): c.1789G> T (p.Glu597Ter)single nucleotide variantPathogenicrs80358461GRCh37Chr 13, 32907404: 32907404
676BRCA2NM_000059.3(BRCA2): c.17_18delAA (p.Lys6Argfs)deletionPathogenicrs80359298GRCh37Chr 13, 32890614: 32890615
677BRCA2NM_000059.3(BRCA2): c.1800T> G (p.Tyr600Ter)single nucleotide variantPathogenicrs80358464GRCh37Chr 13, 32907415: 32907415
678BRCA2NM_000059.3(BRCA2): c.1815dupA (p.Pro606Thrfs)duplicationPathogenicrs80359310GRCh37Chr 13, 32907430: 32907431
679BRCA2NM_000059.3(BRCA2): c.1825C> T (p.Gln609Ter)single nucleotide variantPathogenicrs80358472GRCh37Chr 13, 32907440: 32907440
680BRCA2NM_000059.3(BRCA2): c.1831delT (p.Ser611Glnfs)deletionPathogenicrs80359311GRCh37Chr 13, 32907446: 32907446
681BRCA2NM_000059.3(BRCA2): c.1842dupT (p.Asn615Terfs)duplicationPathogenicrs80359312GRCh37Chr 13, 32907457: 32907458
682BRCA2NM_000059.3(BRCA2): c.1854delCinsAA (p.Gln619Thrfs)indelPathogenicrs276174815GRCh37Chr 13, 32907469: 32907469
683BRCA2NM_000059.3(BRCA2): c.1855C> T (p.Gln619Ter)single nucleotide variantPathogenicrs80358476GRCh37Chr 13, 32907470: 32907470
684BRCA2NM_000059.3(BRCA2): c.1888dupA (p.Thr630Asnfs)duplicationPathogenicrs80359314GRCh37Chr 13, 32907503: 32907504
685BRCA2NM_000059.3(BRCA2): c.1889delC (p.Thr630Asnfs)deletionPathogenicrs80359315GRCh37Chr 13, 32907504: 32907504
686BRCA2NM_000059.3(BRCA2): c.2026delT (p.Cys676Valfs)deletionPathogenicrs80359317GRCh37Chr 13, 32910518: 32910518
687BRCA2NM_000059.3(BRCA2): c.204delA (p.Lys68Asnfs)deletionPathogenicrs80359320GRCh37Chr 13, 32893350: 32893350
688BRCA2NM_000059.3(BRCA2): c.2064T> G (p.Tyr688Ter)single nucleotide variantPathogenicrs80358485GRCh37Chr 13, 32910556: 32910556
689BRCA2NM_000059.3(BRCA2): c.2084_2088delAGGAA (p.Glu696Thrfs)deletionPathogenicrs80359321GRCh37Chr 13, 32910576: 32910580
690BRCA2NM_000059.3(BRCA2): c.2094delA (p.Gln699Serfs)deletionPathogenicrs80359323GRCh37Chr 13, 32910586: 32910586
691BRCA2NM_000059.3(BRCA2): c.2103_2106delTATT (p.Phe701Leufs)deletionPathogenicrs80359324GRCh37Chr 13, 32910595: 32910598
692BRCA2NM_000059.3(BRCA2): c.2224C> T (p.Gln742Ter)single nucleotide variantPathogenicrs80358494GRCh37Chr 13, 32910716: 32910716
693BRCA2NM_000059.3(BRCA2): c.2254_2257delGACT (p.Asp752Phefs)deletionPathogenicrs80359326GRCh37Chr 13, 32910746: 32910749
694BRCA2NM_000059.3(BRCA2): c.227C> G (p.Ser76Ter)single nucleotide variantPathogenicrs80358498GRCh37Chr 13, 32893373: 32893373
695BRCA2NM_000059.3(BRCA2): c.2287delC (p.His763Metfs)deletionPathogenicrs80359327GRCh37Chr 13, 32910779: 32910779
696BRCA2NM_000059.3(BRCA2): c.22_23delAG (p.Arg8Alafs)deletionPathogenicrs397507623GRCh37Chr 13, 32890619: 32890620
697BRCA2NM_000059.3(BRCA2): c.2446delG (p.Glu816Lysfs)deletionPathogenicrs80359330GRCh37Chr 13, 32910938: 32910938
698BRCA2NM_000059.3(BRCA2): c.2450delA (p.Lys817Argfs)deletionPathogenicrs80359331GRCh37Chr 13, 32910942: 32910942
699BRCA2NM_000059.3(BRCA2): c.2471_2476delTAAATG (p.Leu824Ter)deletionPathogenicrs276174823GRCh37Chr 13, 32910963: 32910968
700BRCA2NM_000059.3(BRCA2): c.250C> T (p.Gln84Ter)single nucleotide variantPathogenicrs80358515GRCh37Chr 13, 32893396: 32893396
701BRCA2NM_000059.3(BRCA2): c.2537C> G (p.Ser846Ter)single nucleotide variantPathogenicrs80358518GRCh37Chr 13, 32911029: 32911029
702BRCA2NM_000059.3(BRCA2): c.2545delG (p.Val849Tyrfs)deletionPathogenicrs80359333GRCh37Chr 13, 32911037: 32911037
703BRCA2NM_000059.3(BRCA2): c.2564_2565delCA (p.Thr855Lysfs)deletionPathogenicrs80359334GRCh37Chr 13, 32911056: 32911057
704BRCA2NM_000059.3(BRCA2): c.2586_2592delAAATCAA (p.Asn863Lysfs)deletionPathogenicrs80359337GRCh37Chr 13, 32911078: 32911084
705BRCA2NM_000059.3(BRCA2): c.2603delC (p.Thr868Ilefs)deletionPathogenicrs276174824GRCh37Chr 13, 32911095: 32911095
706BRCA2NM_000059.3(BRCA2): c.2612C> A (p.Ser871Ter)single nucleotide variantPathogenicrs397507634GRCh37Chr 13, 32911104: 32911104
707BRCA2NM_000059.3(BRCA2): c.262_263delCT (p.Leu88Alafs)deletionPathogenicrs276174825GRCh37Chr 13, 32893408: 32893409
708BRCA2NM_000059.3(BRCA2): c.2636_2637delCT (p.Ser879Terfs)deletionPathogenicrs276174826GRCh37Chr 13, 32911128: 32911129
709BRCA2NM_000059.3(BRCA2): c.263delT (p.Leu88Argfs)deletionPathogenicrs80359339GRCh37Chr 13, 32893409: 32893409
710BRCA2NM_000059.3(BRCA2): c.2653_2656delGACA (p.Asp885Metfs)deletionPathogenicrs80359340GRCh37Chr 13, 32911145: 32911148
711BRCA2NM_000059.3(BRCA2): c.266delC (p.Pro89Argfs)deletionPathogenicrs80359341GRCh37Chr 13, 32893412: 32893412
712BRCA2NM_000059.3(BRCA2): c.2684delC (p.Ala895Valfs)deletionPathogenicrs80359342GRCh37Chr 13, 32911176: 32911176
713BRCA2NM_000059.3(BRCA2): c.2731delG (p.Glu911Lysfs)deletionPathogenicrs80359344GRCh37Chr 13, 32911223: 32911223
714BRCA2NM_000059.3(BRCA2): c.2760delC (p.Ile921Phefs)deletionPathogenicrs80359346GRCh37Chr 13, 32911252: 32911252
715BRCA2NM_000059.3(BRCA2): c.276dupA (p.Ser93Ilefs)duplicationPathogenicrs80359345GRCh37Chr 13, 32893422: 32893423
716BRCA2NM_000059.3(BRCA2): c.2786dupT (p.Leu929Phefs)duplicationPathogenicrs80359347GRCh37Chr 13, 32911278: 32911279
717BRCA2NM_000059.3(BRCA2): c.2798_2799delCA (p.Thr933Argfs)deletionPathogenicrs80359348GRCh37Chr 13, 32911290: 32911291
718BRCA2NM_000059.3(BRCA2): c.2798delC (p.Thr933Lysfs)deletionPathogenicrs80359349GRCh37Chr 13, 32911290: 32911290
719BRCA2NM_000059.3(BRCA2): c.2805_2808delTAAA (p.Ala938Profs)deletionPathogenicrs80359350GRCh37Chr 13, 32911297: 32911300
720BRCA2NM_000059.3(BRCA2): c.2810_2811delAA (p.Gln937Argfs)deletionPathogenicrs80359353GRCh37Chr 13, 32911302: 32911303
721BRCA2NM_000059.3(BRCA2): c.2812_2815delGCAA (p.Ala938Profs)deletionPathogenicrs80359354GRCh37Chr 13, 32911304: 32911307
722BRCA2NM_000059.3(BRCA2): c.2836_2837delGA (p.Asp946Phefs)deletionPathogenicrs80359357GRCh37Chr 13, 32911328: 32911329
723BRCA2NM_000059.3(BRCA2): c.2836delG (p.Asp946Ilefs)deletionPathogenicrs80359358GRCh37Chr 13, 32911328: 32911328
724BRCA2NM_000059.3(BRCA2): c.2881C> T (p.Gln961Ter)single nucleotide variantPathogenicrs80358538GRCh37Chr 13, 32911373: 32911373
725BRCA2NM_000059.3(BRCA2): c.289G> T (p.Glu97Ter)single nucleotide variantPathogenicrs397507646GRCh37Chr 13, 32893435: 32893435
726BRCA2NM_000059.3(BRCA2): c.2957dupA (p.Asn986Lysfs)duplicationPathogenicrs80359365GRCh37Chr 13, 32911449: 32911450
727BRCA2NM_000059.3(BRCA2): c.298A> T (p.Lys100Ter)single nucleotide variantPathogenicrs80358546GRCh37Chr 13, 32893444: 32893444
728BRCA2NM_000059.3(BRCA2): c.3051delC (p.Lys1018Serfs)deletionPathogenicrs80359367GRCh37Chr 13, 32911543: 32911543
729BRCA2NM_000059.3(BRCA2): c.3068dupA (p.Asn1023Lysfs)duplicationPathogenicrs80359368GRCh37Chr 13, 32911560: 32911561
730BRCA2NM_000059.3(BRCA2): c.3076A> T (p.Lys1026Ter)single nucleotide variantPathogenicrs80358552GRCh37Chr 13, 32911568: 32911568
731BRCA2NM_000059.3(BRCA2): c.3146delA (p.Asn1049Ilefs)deletionPathogenicrs80359370GRCh37Chr 13, 32911638: 32911638
732BRCA2NM_000059.3(BRCA2): c.314T> G (p.Leu105Ter)single nucleotide variantPathogenicrs80358561GRCh37Chr 13, 32893460: 32893460
733BRCA2NM_000059.3(BRCA2): c.316+5G> Asingle nucleotide variantPathogenicrs81002840GRCh37Chr 13, 32893467: 32893467
734BRCA2NM_000059.3(BRCA2): c.3166C> T (p.Gln1056Ter)single nucleotide variantPathogenicrs79728106GRCh37Chr 13, 32911658: 32911658
735BRCA2NM_000059.3(BRCA2): c.3167_3170delAAAA (p.Gln1056Argfs)deletionPathogenicrs80359372GRCh37Chr 13, 32911659: 32911662
736BRCA2NM_000059.3(BRCA2): c.3189_3192delGTCA (p.Ser1064Leufs)deletionPathogenicrs80359374GRCh37Chr 13, 32911681: 32911684
737BRCA2NM_000059.3(BRCA2): c.3195_3198delTAAT (p.Asn1066Leufs)deletionPathogenicrs80359376GRCh37Chr 13, 32911687: 32911690
738BRCA2NM_000059.3(BRCA2): c.3199delA (p.Thr1067Leufs)deletionPathogenicrs80359377GRCh37Chr 13, 32911691: 32911691
739BRCA2NM_000059.3(BRCA2): c.3202delG (p.Val1068Tyrfs)deletionPathogenicrs397507658GRCh37Chr 13, 32911694: 32911694
740BRCA2NM_000059.3(BRCA2): c.3228_3229delAG (p.Val1077Cysfs)deletionPathogenicrs80359378GRCh37Chr 13, 32911720: 32911721
741BRCA2NM_000059.3(BRCA2): c.3262_3263delCC (p.Pro1088Serfs)deletionPathogenicrs80359379GRCh37Chr 13, 32911754: 32911755
742BRCA2NM_000059.3(BRCA2): c.3265C> T (p.Gln1089Ter)single nucleotide variantPathogenicrs80358573GRCh37Chr 13, 32911757: 32911757
743BRCA2NM_000059.3(BRCA2): c.3269delT (p.Met1090Serfs)deletionPathogenicrs80359381GRCh37Chr 13, 32911761: 32911761
744BRCA2NM_000059.3(BRCA2): c.3273_3276delATTT (p.Leu1091Phefs)deletionPathogenicrs80359382GRCh37Chr 13, 32911765: 32911768
745BRCA2NM_000059.3(BRCA2): c.3277delT (p.Ser1093Profs)deletionPathogenicrs276174833GRCh37Chr 13, 32911769: 32911769
746BRCA2NM_000059.3(BRCA2): c.3294delT (p.Ser1099Glnfs)deletionPathogenicrs80359383GRCh37Chr 13, 32911786: 32911786
747BRCA2NM_000059.3(BRCA2): c.3319C> T (p.Gln1107Ter)single nucleotide variantPathogenicrs80358578GRCh37Chr 13, 32911811: 32911811
748BRCA2NM_000059.3(BRCA2): c.3354delA (p.Glu1119Lysfs)deletionPathogenicrs80359384GRCh37Chr 13, 32911846: 32911846
749BRCA2NM_000059.3(BRCA2): c.3381delT (p.Phe1127Leufs)deletionPathogenicrs397507666GRCh37Chr 13, 32911873: 32911873
750BRCA2NM_000059.3(BRCA2): c.3455T> G (p.Leu1152Ter)single nucleotide variantPathogenicrs80358593GRCh37Chr 13, 32911947: 32911947
751BRCA2NM_000059.3(BRCA2): c.3469G> T (p.Glu1157Ter)single nucleotide variantPathogenicrs80358595GRCh37Chr 13, 32911961: 32911961
752BRCA2NM_000059.3(BRCA2): c.3500_3501delTA (p.Ile1167Asnfs)deletionPathogenicrs80359387GRCh37Chr 13, 32911992: 32911993
753BRCA2NM_000059.3(BRCA2): c.3554_3555delCA (p.Thr1185Serfs)deletionPathogenicrs80359389GRCh37Chr 13, 32912046: 32912047
754BRCA2NM_000059.3(BRCA2): c.3570delG (p.Lys1191Serfs)deletionPathogenicrs80359390GRCh37Chr 13, 32912062: 32912062
755BRCA2NM_000059.3(BRCA2): c.3599_3600delGT (p.Cys1200Terfs)deletionPathogenicrs80359392GRCh37Chr 13, 32912091: 32912092
756BRCA2NM_000059.3(BRCA2): c.3638delA (p.Val1214Trpfs)deletionPathogenicrs80359394GRCh37Chr 13, 32912130: 32912130
757BRCA2NM_000059.3(BRCA2): c.3682_3685delAATG (p.Asn1228Phefs)deletionPathogenicrs80359396GRCh37Chr 13, 32912174: 32912177
758BRCA2NM_000059.3(BRCA2): c.3685delG (p.Val1229Phefs)deletionPathogenicrs80359397GRCh37Chr 13, 32912177: 32912177
759BRCA2NM_000059.3(BRCA2): c.36delT (p.Phe12Leufs)deletionPathogenicrs80359399GRCh37Chr 13, 32890633: 32890633
760BRCA2NM_000059.3(BRCA2): c.36dupT (p.Glu13Terfs)duplicationPathogenicrs80359393GRCh37Chr 13, 32890633: 32890634
761BRCA2NM_000059.3(BRCA2): c.3737delA (p.Asn1246Ilefs)deletionPathogenicrs80359402GRCh37Chr 13, 32912229: 32912229
762BRCA2NM_000059.3(BRCA2): c.3748G> T (p.Glu1250Ter)single nucleotide variantPathogenicrs80358615GRCh37Chr 13, 32912240: 32912240
763BRCA2NM_000059.3(BRCA2): c.37G> T (p.Glu13Ter)single nucleotide variantPathogenicrs80358622GRCh37Chr 13, 32890634: 32890634
764BRCA2NM_000059.3(BRCA2): c.3812C> A (p.Ser1271Ter)single nucleotide variantPathogenicrs80358623GRCh37Chr 13, 32912304: 32912304
765BRCA2NM_000059.3(BRCA2): c.3837delT (p.Asn1279Lysfs)deletionPathogenicrs80359404GRCh37Chr 13, 32912329: 32912329
766BRCA2NM_000059.3(BRCA2): c.3859_3860delAA (p.Asn1287Terfs)deletionPathogenicrs80359408GRCh37Chr 13, 32912351: 32912352
767BRCA2NM_000059.3(BRCA2): c.3860_3863delATAA (p.Asn1287Ilefs)deletionPathogenicrs80359410GRCh37Chr 13, 32912352: 32912355
768BRCA2NM_000059.3(BRCA2): c.3860delA (p.Asn1287Ilefs)deletionPathogenicrs80359411GRCh37Chr 13, 32912352: 32912352
769BRCA2NM_000059.3(BRCA2): c.3860dupA (p.Asn1287Lysfs)duplicationPathogenicrs80359409GRCh37Chr 13, 32912352: 32912353
770BRCA2NM_000059.3(BRCA2): c.3871C> T (p.Gln1291Ter)single nucleotide variantPathogenicrs80358631GRCh37Chr 13, 32912363: 32912363
771BRCA2NM_000059.3(BRCA2): c.3881T> A (p.Leu1294Ter)single nucleotide variantPathogenicrs80358632GRCh37Chr 13, 32912373: 32912373
772BRCA2NM_000059.3(BRCA2): c.3911delC (p.Thr1304Ilefs)deletionPathogenicrs80359415GRCh37Chr 13, 32912403: 32912403
773BRCA2NM_000059.3(BRCA2): c.3919delG (p.Glu1307Lysfs)deletionPathogenicrs80359416GRCh37Chr 13, 32912411: 32912411
774BRCA2NM_000059.3(BRCA2): c.3939C> A (p.Tyr1313Ter)single nucleotide variantPathogenicrs80358641GRCh37Chr 13, 32912431: 32912431
775BRCA2NM_000059.3(BRCA2): c.3939delC (p.Tyr1313Terfs)deletionPathogenicrs276174838GRCh37Chr 13, 32912431: 32912431
776BRCA2NM_000059.3(BRCA2): c.3956_3959delATGA (p.Asn1319Lysfs)deletionPathogenicrs80359417GRCh37Chr 13, 32912448: 32912451
777BRCA2NM_000059.3(BRCA2): c.3958G> T (p.Glu1320Ter)single nucleotide variantPathogenicrs80358644GRCh37Chr 13, 32912450: 32912450
778BRCA2NM_000059.3(BRCA2): c.3G> A (p.Met1Ile)single nucleotide variantPathogenicrs80358650GRCh37Chr 13, 32890600: 32890600
779BRCA2NM_000059.3(BRCA2): c.4001T> A (p.Leu1334Ter)single nucleotide variantPathogenicrs80358652GRCh37Chr 13, 32912493: 32912493
780BRCA2NM_000059.3(BRCA2): c.4037_4038delCT (p.Thr1346Serfs)deletionPathogenicrs80359421GRCh37Chr 13, 32912529: 32912530
781BRCA2NM_000059.3(BRCA2): c.4048_4051delCATA (p.His1350Lysfs)deletionPathogenicrs80359423GRCh37Chr 13, 32912540: 32912543
782BRCA2NM_000059.3(BRCA2): c.4076delC (p.Thr1359Metfs)deletionPathogenicrs80359424GRCh37Chr 13, 32912568: 32912568
783BRCA2NM_000059.3(BRCA2): c.4095T> A (p.Cys1365Ter)single nucleotide variantPathogenicrs80358658GRCh37Chr 13, 32912587: 32912587
784BRCA2NM_000059.3(BRCA2): c.410delC (p.Ser137Phefs)deletionPathogenicrs80359427GRCh37Chr 13, 32899306: 32899306
785BRCA2NM_000059.3(BRCA2): c.4130delA (p.Asn1377Thrfs)deletionPathogenicrs80359428GRCh37Chr 13, 32912622: 32912622
786BRCA2NM_000059.3(BRCA2): c.4133_4136delCTCA (p.Thr1378Argfs)deletionPathogenicrs80359430GRCh37Chr 13, 32912625: 32912628
787BRCA2NM_000059.3(BRCA2): c.4137_4141delGATTA (p.Ile1380Argfs)deletionPathogenicrs80359431GRCh37Chr 13, 32912629: 32912633
788BRCA2NM_000059.3(BRCA2): c.4169delT (p.Leu1390Trpfs)deletionPathogenicrs80359433GRCh37Chr 13, 32912661: 32912661
789BRCA2NM_000059.3(BRCA2): c.4218_4221delAGAA (p.Lys1406Asnfs)deletionPathogenicrs80359435GRCh37Chr 13, 32912710: 32912713
790BRCA2NM_000059.3(BRCA2): c.4258delG (p.Asp1420Ilefs)deletionPathogenicrs80359436GRCh37Chr 13, 32912750: 32912750
791BRCA2NM_000059.3(BRCA2): c.4271delC (p.Ser1424Leufs)deletionPathogenicrs80359437GRCh37Chr 13, 32912763: 32912763
792BRCA2NM_000059.3(BRCA2): c.4285C> T (p.Gln1429Ter)single nucleotide variantPathogenicrs80358665GRCh37Chr 13, 32912777: 32912777
793BRCA2NM_000059.3(BRCA2): c.4314delC (p.Ala1439Profs)deletionPathogenicrs80359441GRCh37Chr 13, 32912806: 32912806
794BRCA2NM_000059.3(BRCA2): c.4325C> A (p.Ser1442Ter)single nucleotide variantPathogenicrs80358670GRCh37Chr 13, 32912817: 32912817
795BRCA2NM_000059.3(BRCA2): c.4339delG (p.Val1447Terfs)deletionPathogenicrs80359443GRCh37Chr 13, 32912831: 32912831
796BRCA2NM_000059.3(BRCA2): c.4409_4410delTA (p.Ile1470Lysfs)deletionPathogenicrs80359446GRCh37Chr 13, 32912901: 32912902
797BRCA2NM_000059.3(BRCA2): c.4423delA (p.Met1475Trpfs)deletionPathogenicrs80359447GRCh37Chr 13, 32912915: 32912915
798BRCA2NM_000059.3(BRCA2): c.4456_4459delGTTA (p.Val1486Asnfs)deletionPathogenicrs80359450GRCh37Chr 13, 32912948: 32912951
799BRCA2NM_000059.3(BRCA2): c.4471_4474delCTGA (p.Leu1491Lysfs)deletionPathogenicrs80359451GRCh37Chr 13, 32912963: 32912966
800BRCA2NM_000059.3(BRCA2): c.4525C> T (p.Gln1509Ter)single nucleotide variantPathogenicrs80358683GRCh37Chr 13, 32913017: 32913017
801BRCA2NM_000059.3(BRCA2): c.4546dupA (p.Ile1516Asnfs)duplicationPathogenicrs80359456GRCh37Chr 13, 32913038: 32913039
802BRCA2NM_000059.3(BRCA2): c.4554delA (p.Glu1518Aspfs)deletionPathogenicrs80359458GRCh37Chr 13, 32913046: 32913046
803BRCA2NM_000059.3(BRCA2): c.4588A> T (p.Lys1530Ter)single nucleotide variantPathogenicrs80358692GRCh37Chr 13, 32913080: 32913080
804BRCA2NM_000059.3(BRCA2): c.4593dupA (p.Val1532Serfs)duplicationPathogenicrs397507732GRCh37Chr 13, 32913085: 32913086
805BRCA2NM_000059.3(BRCA2): c.462_463delAA (p.Asp156Terfs)deletionPathogenicrs80359459GRCh37Chr 13, 32900274: 32900275
806BRCA2NM_000059.3(BRCA2): c.469_470delAA (p.Lys157Valfs)deletionPathogenicrs397507739GRCh37Chr 13, 32900281: 32900282
807BRCA2NM_000059.3(BRCA2): c.4708_4709delAG (p.Glu1571Glyfs)deletionPathogenicrs80359464GRCh37Chr 13, 32913200: 32913201
808BRCA2NM_000059.3(BRCA2): c.4731_4736delATTAGCinsG (p.Leu1578Metfs)indelPathogenicrs276174846GRCh37Chr 13, 32913223: 32913228
809BRCA2NM_000059.3(BRCA2): c.4742_4743insTG (p.Glu1581Aspfs)insertionPathogenicrs276174847GRCh37Chr 13, 32913234: 32913235
810BRCA2NM_000059.3(BRCA2): c.475+1G> Asingle nucleotide variantPathogenicrs81002797GRCh37Chr 13, 32900288: 32900288
811BRCA2NM_000059.3(BRCA2): c.475+1G> Tsingle nucleotide variantPathogenicrs81002797GRCh37Chr 13, 32900288: 32900288
812BRCA2NM_000059.3(BRCA2): c.475G> A (p.Val159Met)single nucleotide variantPathogenicrs80358702GRCh37Chr 13, 32900287: 32900287
813BRCA2NM_000059.3(BRCA2): c.4797delT (p.Asn1599Lysfs)deletionPathogenicrs80359465GRCh37Chr 13, 32913289: 32913289
814BRCA2NM_000059.3(BRCA2): c.4808dupA (p.Asn1603Lysfs)duplicationPathogenicrs80359466GRCh37Chr 13, 32913300: 32913301
815BRCA2NM_000059.3(BRCA2): c.4829_4830delTG (p.Val1610Glyfs)deletionPathogenicrs80359468GRCh37Chr 13, 32913321: 32913322
816BRCA2NM_000059.3(BRCA2): c.4845_4846delCT (p.Leu1616Lysfs)deletionPathogenicrs80359469GRCh37Chr 13, 32913337: 32913338
817BRCA2NM_000059.3(BRCA2): c.4859T> G (p.Leu1620Ter)single nucleotide variantPathogenicrs80358710GRCh37Chr 13, 32913351: 32913351
818BRCA2NM_000059.3(BRCA2): c.491T> A (p.Leu164Ter)single nucleotide variantPathogenicrs80358717GRCh37Chr 13, 32900394: 32900394
819BRCA2NM_000059.3(BRCA2): c.4933A> T (p.Lys1645Ter)single nucleotide variantPathogenicrs80358719GRCh37Chr 13, 32913425: 32913425
820BRCA2NM_000059.3(BRCA2): c.4935delA (p.Glu1646Lysfs)deletionPathogenicrs80359472GRCh37Chr 13, 32913427: 32913427
821BRCA2NM_000059.3(BRCA2): c.4965C> A (p.Tyr1655Ter)single nucleotide variantPathogenicrs80358721GRCh37Chr 13, 32913457: 32913457
822BRCA2NM_000059.3(BRCA2): c.4965delC (p.Tyr1655Terfs)deletionPathogenicrs80359475GRCh37Chr 13, 32913457: 32913457
823BRCA2NM_000059.3(BRCA2): c.5065_5066delGCinsAAA (p.Ala1689Lysfs)indelPathogenicrs276174852GRCh37Chr 13, 32913557: 32913558
824BRCA2NM_000059.3(BRCA2): c.5073delA (p.Lys1691Asnfs)deletionPathogenicrs80359481GRCh37Chr 13, 32913565: 32913565
825BRCA2NM_000059.3(BRCA2): c.5107G> T (p.Glu1703Ter)single nucleotide variantPathogenicrs80358735GRCh37Chr 13, 32913599: 32913599
826BRCA2NM_000059.3(BRCA2): c.5131_5134delGTAG (p.Val1711Glufs)deletionPathogenicrs80359486GRCh37Chr 13, 32913623: 32913626
827BRCA2NM_000059.3(BRCA2): c.5141_5144delATTT (p.Tyr1714Cysfs)deletionPathogenicrs80359487GRCh37Chr 13, 32913633: 32913636
828BRCA2NM_000059.3(BRCA2): c.5157_5161delTTCAA (p.Asn1719Lysfs)deletionPathogenicrs80359488GRCh37Chr 13, 32913649: 32913653
829BRCA2NM_000059.3(BRCA2): c.5159C> G (p.Ser1720Ter)single nucleotide variantPathogenicrs80358740GRCh37Chr 13, 32913651: 32913651
830BRCA2NM_000059.3(BRCA2): c.5164_5165delAG (p.Ser1722Tyrfs)deletionPathogenicrs80359490GRCh37Chr 13, 32913656: 32913657
831BRCA2NM_000059.3(BRCA2): c.517-2A> Gsingle nucleotide variantPathogenicrs81002858GRCh37Chr 13, 32900634: 32900634
832BRCA2NM_000059.3(BRCA2): c.5180delA (p.Asn1727Metfs)deletionPathogenicrs80359491GRCh37Chr 13, 32913672: 32913672
833BRCA2NM_000059.3(BRCA2): c.5217T> A (p.Tyr1739Ter)single nucleotide variantPathogenicrs80358746GRCh37Chr 13, 32913709: 32913709
834BRCA2NM_000059.3(BRCA2): c.5217_5220delTTTA (p.Tyr1739Terfs)deletionPathogenicrs80359494GRCh37Chr 13, 32913709: 32913712
835BRCA2NM_000059.3(BRCA2): c.5217_5221delTTTAA (p.Tyr1739Terfs)deletionPathogenicrs80359495GRCh37Chr 13, 32913709: 32913713
836BRCA2NM_000059.3(BRCA2): c.5217_5224delTTTAAGTA (p.Tyr1739Terfs)deletionPathogenicrs80359497GRCh37Chr 13, 32913709: 32913716
837BRCA2NM_000059.3(BRCA2): c.5286T> A (p.Tyr1762Ter)single nucleotide variantPathogenicrs80358754GRCh37Chr 13, 32913778: 32913778
838BRCA2NM_000059.3(BRCA2): c.5344C> T (p.Gln1782Ter)single nucleotide variantPathogenicrs80358757GRCh37Chr 13, 32913836: 32913836
839BRCA2NM_000059.3(BRCA2): c.5344_5345delCA (p.Gln1782Lysfs)deletionPathogenicrs80359506GRCh37Chr 13, 32913836: 32913837
840BRCA2NM_000059.3(BRCA2): c.538_539delAT (p.Ile180Phefs)deletionPathogenicrs80359510GRCh37Chr 13, 32900657: 32900658
841BRCA2NM_000059.3(BRCA2): c.539delT (p.Ser181Leufs)deletionPathogenicrs276174857GRCh37Chr 13, 32900658: 32900658
842BRCA2NM_000059.3(BRCA2): c.5404C> T (p.Gln1802Ter)single nucleotide variantPathogenicrs80358763GRCh37Chr 13, 32913896: 32913896
843BRCA2NM_000059.3(BRCA2): c.5428G> A (p.Val1810Ile)single nucleotide variantPathogenicrs80358766GRCh37Chr 13, 32913920: 32913920
844BRCA2NM_000059.3(BRCA2): c.5434G> T (p.Glu1812Ter)single nucleotide variantPathogenicrs80358767GRCh37Chr 13, 32913926: 32913926
845BRCA2NM_000059.3(BRCA2): c.5466dupT (p.Lys1823Terfs)duplicationPathogenicrs80359514GRCh37Chr 13, 32913958: 32913959
846BRCA2NM_000059.3(BRCA2): c.5526delT (p.Ala1843Hisfs)deletionPathogenicrs80359518GRCh37Chr 13, 32914018: 32914018
847BRCA2NM_000059.3(BRCA2): c.5569G> T (p.Glu1857Ter)single nucleotide variantPathogenicrs80358778GRCh37Chr 13, 32914061: 32914061
848BRCA2NM_000059.3(BRCA2): c.5577_5580delTAAA (p.Lys1861Terfs)deletionPathogenicrs80359522GRCh37Chr 13, 32914069: 32914072
849BRCA2NM_000059.3(BRCA2): c.5585_5588delTGAA (p.Val1862Glufs)deletionPathogenicrs80359523GRCh37Chr 13, 32914077: 32914080
850BRCA2NM_000059.3(BRCA2): c.5641_5644delAAAT (p.Lys1881Glnfs)deletionPathogenicrs276174860GRCh37Chr 13, 32914133: 32914136
851BRCA2NM_000059.3(BRCA2): c.5656C> T (p.Gln1886Ter)single nucleotide variantPathogenicrs80358790GRCh37Chr 13, 32914148: 32914148
852BRCA2NM_000059.3(BRCA2): c.5702_5703delAG (p.Glu1901Glyfs)deletionPathogenicrs80359528GRCh37Chr 13, 32914194: 32914195
853BRCA2NM_000059.3(BRCA2): c.5717_5718delAC (p.Asn1906Ilefs)deletionPathogenicrs80359529GRCh37Chr 13, 32914209: 32914210
854BRCA2NM_000059.3(BRCA2): c.5718_5721delCTCT (p.Ser1907Terfs)deletionPathogenicrs276174862GRCh37Chr 13, 32914210: 32914213
855BRCA2NM_000059.3(BRCA2): c.5724delA (p.Asp1909Ilefs)deletionPathogenicrs80359532GRCh37Chr 13, 32914216: 32914216
856BRCA2NM_000059.3(BRCA2): c.5763dupT (p.Ala1922Cysfs)duplicationPathogenicrs80359534GRCh37Chr 13, 32914255: 32914256
857BRCA2NM_000059.3(BRCA2): c.5771_5774delTTCA (p.Ile1924Argfs)deletionPathogenicrs80359535GRCh37Chr 13, 32914263: 32914266
858BRCA2NM_000059.3(BRCA2): c.5773C> T (p.Gln1925Ter)single nucleotide variantPathogenicrs80358806GRCh37Chr 13, 32914265: 32914265
859BRCA2NM_000059.3(BRCA2): c.5778_5779delTG (p.Ser1926Argfs)deletionPathogenicrs80359536GRCh37Chr 13, 32914270: 32914271
860BRCA2NM_000059.3(BRCA2): c.5782G> A (p.Glu1928Lys)single nucleotide variantPathogenicrs56253082GRCh37Chr 13, 32914274: 32914274
861BRCA2NM_000059.3(BRCA2): c.581G> A (p.Trp194Ter)single nucleotide variantPathogenicrs80358809GRCh37Chr 13, 32900700: 32900700
862BRCA2NM_000059.3(BRCA2): c.5820_5833delGAAAGTTTCTAAAA (p.Glu1940Aspfs)deletionPathogenicrs80359539GRCh37Chr 13, 32914312: 32914325
863BRCA2NM_000059.3(BRCA2): c.5823delA (p.Val1942Phefs)deletionPathogenicrs80359540GRCh37Chr 13, 32914315: 32914315
864BRCA2NM_000059.3(BRCA2): c.5836_5837insA (p.Ser1946Tyrfs)insertionPathogenicrs80359542GRCh37Chr 13, 32914328: 32914329
865BRCA2NM_000059.3(BRCA2): c.5857delG (p.Glu1953Lysfs)deletionPathogenicrs80359545GRCh37Chr 13, 32914349: 32914349
866BRCA2NM_000059.3(BRCA2): c.5864C> A (p.Ser1955Ter)single nucleotide variantPathogenicrs80358815GRCh37Chr 13, 32914356: 32914356
867BRCA2NM_000059.3(BRCA2): c.5890delA (p.Lys1964Serfs)deletionPathogenicrs276174864GRCh37Chr 13, 32914382: 32914382
868BRCA2NM_000059.3(BRCA2): c.5904_5907delAGTC (p.Val1969Hisfs)deletionPathogenicrs80359547GRCh37Chr 13, 32914396: 32914399
869BRCA2NM_000059.3(BRCA2): c.5925T> A (p.Cys1975Ter)single nucleotide variantPathogenicrs80358825GRCh37Chr 13, 32914417: 32914417
870BRCA2NM_000059.3(BRCA2): c.5946_5949delTGGA (p.Ser1982Argfs)deletionPathogenicrs80359549GRCh37Chr 13, 32914438: 32914441
871BRCA2NM_000059.3(BRCA2): c.5959C> T (p.Gln1987Ter)single nucleotide variantPathogenicrs80358828GRCh37Chr 13, 32914451: 32914451
872BRCA2NM_000059.3(BRCA2): c.5967dupA (p.Asp1990Argfs)duplicationPathogenicrs276174865GRCh37Chr 13, 32914459: 32914460
873BRCA2NM_000059.3(BRCA2): c.5968_5969delGA (p.Asp1990Cysfs)deletionPathogenicrs80359552GRCh37Chr 13, 32914460: 32914461
874BRCA2NM_000059.3(BRCA2): c.6001delT (p.Ser2001Leufs)deletionPathogenicrs80359553GRCh37Chr 13, 32914493: 32914493
875BRCA2NM_000059.3(BRCA2): c.6025C> T (p.Gln2009Ter)single nucleotide variantPathogenicrs80358838GRCh37Chr 13, 32914517: 32914517
876BRCA2NM_000059.3(BRCA2): c.6065C> G (p.Ser2022Ter)single nucleotide variantPathogenicrs80358843GRCh37Chr 13, 32914557: 32914557
877BRCA2NM_000059.3(BRCA2): c.6068_6072delACCAG (p.Asp2023Alafs)deletionPathogenicrs80359555GRCh37Chr 13, 32914560: 32914564
878BRCA2NM_000059.3(BRCA2): c.6070C> T (p.Gln2024Ter)single nucleotide variantPathogenicrs80358844GRCh37Chr 13, 32914562: 32914562
879BRCA2NM_000059.3(BRCA2): c.6071delA (p.Gln2024Argfs)deletionPathogenicrs80359556GRCh37Chr 13, 32914563: 32914563
880BRCA2NM_000059.3(BRCA2): c.6078_6079delAA (p.Glu2028Argfs)deletionPathogenicrs80359557GRCh37Chr 13, 32914570: 32914571
881BRCA2NM_000059.3(BRCA2): c.6103delA (p.Thr2035Leufs)deletionPathogenicrs80359559GRCh37Chr 13, 32914595: 32914595
882BRCA2NM_000059.3(BRCA2): c.610delC (p.Ser205Valfs)deletionPathogenicrs80359560GRCh37Chr 13, 32900729: 32900729
883BRCA2NM_000059.3(BRCA2): c.6124C> T (p.Gln2042Ter)single nucleotide variantPathogenicrs80358851GRCh37Chr 13, 32914616: 32914616
884BRCA2NM_000059.3(BRCA2): c.6129dupA (p.Gly2044Argfs)duplicationPathogenicrs80359561GRCh37Chr 13, 32914621: 32914622
885BRCA2NM_000059.3(BRCA2): c.6154delT (p.Ser2052Hisfs)deletionPathogenicrs80359562GRCh37Chr 13, 32914646: 32914646
886BRCA2NM_000059.3(BRCA2): c.6169G> T (p.Gly2057Ter)single nucleotide variantPathogenicrs80358856GRCh37Chr 13, 32914661: 32914661
887BRCA2NM_000059.3(BRCA2): c.6178delA (p.Thr2060Glnfs)deletionPathogenicrs80359563GRCh37Chr 13, 32914670: 32914670
888BRCA2NM_000059.3(BRCA2): c.6198_6199delTT (p.Ser2067Hisfs)deletionPathogenicrs80359564GRCh37Chr 13, 32914690: 32914691
889BRCA2NM_000059.3(BRCA2): c.6201delC (p.Ile2068Phefs)deletionPathogenicrs80359565GRCh37Chr 13, 32914693: 32914693
890BRCA2NM_000059.3(BRCA2): c.6209_6212delAAAG (p.Glu2070Valfs)deletionPathogenicrs276174866GRCh37Chr 13, 32914701: 32914704
891BRCA2NM_000059.3(BRCA2): c.6220_6222delCACinsAA (p.His2074Lysfs)indelPathogenicrs276174867GRCh37Chr 13, 32914712: 32914714
892BRCA2NM_000059.3(BRCA2): c.6238delT (p.Leu2080Terfs)deletionPathogenicrs80359569GRCh37Chr 13, 32914730: 32914730
893BRCA2NM_000059.3(BRCA2): c.6239T> G (p.Leu2080Ter)single nucleotide variantPathogenicrs80358864GRCh37Chr 13, 32914731: 32914731
894BRCA2NM_000059.3(BRCA2): c.6240dupA (p.Glu2081Argfs)duplicationPathogenicrs80359570GRCh37Chr 13, 32914732: 32914733
895BRCA2NM_000059.3(BRCA2): c.6270_6271delTA (p.His2090Glnfs)deletionPathogenicrs80359571GRCh37Chr 13, 32914762: 32914763
896BRCA2NM_000059.3(BRCA2): c.6280_6286delTATTCAC (p.Tyr2094Leufs)deletionPathogenicrs80359572GRCh37Chr 13, 32914772: 32914778
897BRCA2NM_000059.3(BRCA2): c.6282_6289delTTCACCTA (p.Ser2095Valfs)deletionPathogenicrs80359573GRCh37Chr 13, 32914774: 32914781
898BRCA2NM_000059.3(BRCA2): c.6308C> A (p.Ser2103Ter)single nucleotide variantPathogenicrs80358870GRCh37Chr 13, 32914800: 32914800
899BRCA2NM_000059.3(BRCA2): c.631G> A (p.Val211Ile)single nucleotide variantPathogenicrs80358871GRCh37Chr 13, 32900750: 32900750
900BRCA2NM_000059.3(BRCA2): c.632-1G> Csingle nucleotide variantPathogenicrs81002820GRCh37Chr 13, 32903579: 32903579
901BRCA2NM_000059.3(BRCA2): c.6325_6326delGT (p.Val2109Terfs)deletionPathogenicrs276174871GRCh37Chr 13, 32914817: 32914818
902BRCA2NM_000059.3(BRCA2): c.6335_6336delGA (p.Arg2112Lysfs)deletionPathogenicrs80359574GRCh37Chr 13, 32914827: 32914828
903BRCA2NM_000059.3(BRCA2): c.634_635delAG (p.Arg212Lysfs)deletionPathogenicrs80359575GRCh37Chr 13, 32903582: 32903583
904BRCA2NM_000059.3(BRCA2): c.6352_6353delGT (p.Val2118Lysfs)deletionPathogenicrs80359576GRCh37Chr 13, 32914844: 32914845
905BRCA2NM_000059.3(BRCA2): c.6373delA (p.Thr2125Profs)deletionPathogenicrs80359578GRCh37Chr 13, 32914865: 32914865
906BRCA2NM_000059.3(BRCA2): c.6382A> T (p.Lys2128Ter)single nucleotide variantPathogenicrs80358875GRCh37Chr 13, 32914874: 32914874
907BRCA2NM_000059.3(BRCA2): c.63delA (p.Ala22Glnfs)deletionPathogenicrs80359582GRCh37Chr 13, 32890660: 32890660
908BRCA2NM_000059.3(BRCA2): c.6401_6404delATAA (p.Asn2134Thrfs)deletionPathogenicrs80359583GRCh37Chr 13, 32914893: 32914896
909BRCA2NM_000059.3(BRCA2): c.6407_6411delTAAAT (p.Leu2136Cysfs)deletionPathogenicrs80359586GRCh37Chr 13, 32914899: 32914903
910BRCA2NM_000059.3(BRCA2): c.6431delA (p.Asn2145Ilefs)deletionPathogenicrs80359587GRCh37Chr 13, 32914923: 32914923
911BRCA2NM_000059.3(BRCA2): c.6443_6444delCT (p.Ser2148Tyrfs)deletionPathogenicrs80359589GRCh37Chr 13, 32914935: 32914936
912BRCA2NM_000059.3(BRCA2): c.6444_6447delTATT (p.Ile2149Lysfs)deletionPathogenicrs80359591GRCh37Chr 13, 32914936: 32914939
913BRCA2NM_000059.3(BRCA2): c.6445_6446delAT (p.Ile2149Terfs)deletionPathogenicrs80359592GRCh37Chr 13, 32914937: 32914938
914BRCA2NM_000059.3(BRCA2): c.6446_6450delTTAAA (p.Ile2149Serfs)deletionPathogenicrs80359593GRCh37Chr 13, 32914938: 32914942
915BRCA2NM_000059.3(BRCA2): c.6449_6450delAA (p.Lys2150Serfs)deletionPathogenicrs80359594GRCh37Chr 13, 32914941: 32914942
916BRCA2NM_000059.3(BRCA2): c.6450dupA (p.Val2151Serfs)duplicationPathogenicrs80359595GRCh37Chr 13, 32914942: 32914943
917BRCA2NM_000059.3(BRCA2): c.6462T> G (p.Tyr2154Ter)single nucleotide variantPathogenicrs80358883GRCh37Chr 13, 32914954: 32914954
918BRCA2NM_000059.3(BRCA2): c.6490delC (p.Gln2164Serfs)deletionPathogenicrs80359599GRCh37Chr 13, 32914982: 32914982
919BRCA2NM_000059.3(BRCA2): c.6494delT (p.Leu2165Trpfs)deletionPathogenicrs276174874GRCh37Chr 13, 32914986: 32914986
920BRCA2NM_000059.3(BRCA2): c.6509_6510delAA (p.Lys2170Serfs)deletionPathogenicrs80359600GRCh37Chr 13, 32915001: 32915002
921BRCA2NM_000059.3(BRCA2): c.652G> T (p.Glu218Ter)single nucleotide variantPathogenicrs80358884GRCh37Chr 13, 32903600: 32903600
922BRCA2NM_000059.3(BRCA2): c.6553delG (p.Ala2185Leufs)deletionPathogenicrs80359603GRCh37Chr 13, 32915045: 32915045
923BRCA2NM_000059.3(BRCA2): c.6600_6601delTT (p.Ser2201Terfs)deletionPathogenicrs80359607GRCh37Chr 13, 32915092: 32915093
924BRCA2NM_000059.3(BRCA2): c.6603_6604delTG (p.Asp2202Cysfs)deletionPathogenicrs80359608GRCh37Chr 13, 32915095: 32915096
925BRCA2NM_000059.3(BRCA2): c.6626_6627delTA (p.Ile2209Argfs)deletionPathogenicrs80359610GRCh37Chr 13, 32915118: 32915119
926BRCA2NM_000059.3(BRCA2): c.6629_6630delAA (p.Glu2210Glyfs)deletionPathogenicrs80359611GRCh37Chr 13, 32915121: 32915122
927BRCA2NM_000059.3(BRCA2): c.662_663delTT (p.Phe221Serfs)deletionPathogenicrs80359609GRCh37Chr 13, 32903610: 32903611
928BRCA2NM_000059.3(BRCA2): c.6638delC (p.Ser2213Leufs)deletionPathogenicrs80359612GRCh37Chr 13, 32915130: 32915130
929BRCA2NM_000059.3(BRCA2): c.6643delT (p.Tyr2215Thrfs)deletionPathogenicrs80359614GRCh37Chr 13, 32915135: 32915135
930BRCA2NM_000059.3(BRCA2): c.6644dupA (p.Tyr2215Terfs)duplicationPathogenicrs80359615GRCh37Chr 13, 32915136: 32915137
931BRCA2NM_000059.3(BRCA2): c.6656C> G (p.Ser2219Ter)single nucleotide variantPathogenicrs80358893GRCh37Chr 13, 32915148: 32915148
932BRCA2NM_000059.3(BRCA2): c.6658_6661delGAAA (p.Glu2220Thrfs)deletionPathogenicrs80359617GRCh37Chr 13, 32915150: 32915153
933BRCA2NM_000059.3(BRCA2): c.6673delA (p.Thr2225Glnfs)deletionPathogenicrs276174875GRCh37Chr 13, 32915165: 32915165
934BRCA2NM_000059.3(BRCA2): c.6676_6677delGA (p.Glu2226Serfs)deletionPathogenicrs80359619GRCh37Chr 13, 32915168: 32915169
935BRCA2NM_000059.3(BRCA2): c.6678delA (p.Ala2227Glnfs)deletionPathogenicrs80359620GRCh37Chr 13, 32915170: 32915170
936BRCA2NM_000059.3(BRCA2): c.6682dupG (p.Val2228Glyfs)duplicationPathogenicrs80359621GRCh37Chr 13, 32915174: 32915175
937BRCA2NM_000059.3(BRCA2): c.67+1G> Asingle nucleotide variantPathogenicrs81002796GRCh37Chr 13, 32890665: 32890665
938BRCA2NM_000059.3(BRCA2): c.67+1G> Tsingle nucleotide variantPathogenicrs81002796GRCh37Chr 13, 32890665: 32890665
939BRCA2NM_000059.3(BRCA2): c.67+2T> Asingle nucleotide variantPathogenicrs81002885GRCh37Chr 13, 32890666: 32890666
940BRCA2NM_000059.3(BRCA2): c.67+2T> Csingle nucleotide variantPathogenicrs81002885GRCh37Chr 13, 32890666: 32890666
941BRCA2NM_000059.3(BRCA2): c.6715G> T (p.Glu2239Ter)single nucleotide variantPathogenicrs276174876GRCh37Chr 13, 32915207: 32915207
942BRCA2NM_000059.3(BRCA2): c.6743_6755delATGCCACACATTC (p.His2248Leufs)deletionPathogenicrs80359622GRCh37Chr 13, 32915235: 32915247
943BRCA2NM_000059.3(BRCA2): c.6754dupT (p.Ser2252Phefs)duplicationPathogenicrs180670511GRCh37Chr 13, 32915246: 32915247
944BRCA2NM_000059.3(BRCA2): c.6757_6758delCT (p.Leu2253Phefs)deletionPathogenicrs80359623GRCh37Chr 13, 32915249: 32915250
945BRCA2NM_000059.3(BRCA2): c.6761_6762delTT (p.Phe2254Tyrfs)deletionPathogenicrs80359624GRCh37Chr 13, 32915253: 32915254
946BRCA2NM_000059.3(BRCA2): c.6768T> A (p.Cys2256Ter)single nucleotide variantPathogenicrs80358901GRCh37Chr 13, 32915260: 32915260
947BRCA2NM_000059.3(BRCA2): c.6809delG (p.Gly2270Glufs)deletionPathogenicrs80359625GRCh37Chr 13, 32915301: 32915301
948BRCA2NM_000059.3(BRCA2): c.682-1G> Csingle nucleotide variantPathogenicrs81002831GRCh37Chr 13, 32905055: 32905055
949BRCA2NM_000059.3(BRCA2): c.6833_6837delTCTTA (p.Ile2278Serfs)deletionPathogenicrs80359627GRCh37Chr 13, 32915325: 32915329
950BRCA2NM_000059.3(BRCA2): c.6938-2A> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs81002863GRCh37Chr 13, 32920962: 32920962
951BRCA2NM_000059.3(BRCA2): c.696delT (p.Ser234Profs)deletionPathogenicrs80359630GRCh37Chr 13, 32905070: 32905070
952BRCA2NM_000059.3(BRCA2): c.6990_6994delTACCT (p.Ile2330Metfs)deletionPathogenicrs80359631GRCh37Chr 13, 32921016: 32921020
953BRCA2NM_000059.3(BRCA2): c.7003_7007delTTTCG (p.Phe2335Hisfs)deletionPathogenicrs80359632GRCh37Chr 13, 32921029: 32921033
954BRCA2NM_000059.3(BRCA2): c.7007G> C (p.Arg2336Pro)single nucleotide variantPathogenicrs28897743GRCh37Chr 13, 32921033: 32921033
955BRCA2NM_000059.3(BRCA2): c.7007G> T (p.Arg2336Leu)single nucleotide variantPathogenicrs28897743GRCh37Chr 13, 32921033: 32921033
956BRCA2NM_000059.3(BRCA2): c.7008-2A> Gsingle nucleotide variantPathogenicrs81002823GRCh37Chr 13, 32928996: 32928996
957BRCA2NM_000059.3(BRCA2): c.7008-2A> Tsingle nucleotide variantPathogenicrs81002823GRCh37Chr 13, 32928996: 32928996
958BRCA2NM_000059.3(BRCA2): c.7024C> T (p.Gln2342Ter)single nucleotide variantPathogenicrs80358928GRCh37Chr 13, 32929014: 32929014
959BRCA2NM_000059.3(BRCA2): c.7025_7026delAA (p.Gln2342Argfs)deletionPathogenicrs80359634GRCh37Chr 13, 32929015: 32929016
960BRCA2NM_000059.3(BRCA2): c.7032dupA (p.Gln2345Thrfs)duplicationPathogenicrs80359635GRCh37Chr 13, 32929022: 32929023
961BRCA2NM_000059.3(BRCA2): c.7060C> T (p.Gln2354Ter)single nucleotide variantPathogenicrs80358936GRCh37Chr 13, 32929050: 32929050
962BRCA2NM_000059.3(BRCA2): c.7108_7109delAA (p.Lys2370Ilefs)deletionPathogenicrs80359638GRCh37Chr 13, 32929098: 32929099
963BRCA2NM_000059.3(BRCA2): c.7110delA (p.Lys2370Asnfs)deletionPathogenicrs397507897GRCh37Chr 13, 32929100: 32929100
964BRCA2NM_000059.3(BRCA2): c.7115C> G (p.Ser2372Ter)single nucleotide variantPathogenicrs80358943GRCh37Chr 13, 32929105: 32929105
965BRCA2NM_000059.3(BRCA2): c.7151_7152delAA (p.Gln2384Argfs)deletionPathogenicrs276174890GRCh37Chr 13, 32929141: 32929142
966BRCA2NM_000059.3(BRCA2): c.7156dupT (p.Ser2386Phefs)duplicationPathogenicrs80359639GRCh37Chr 13, 32929146: 32929147
967BRCA2NM_000059.3(BRCA2): c.7208_7211delCCAA (p.Thr2403Lysfs)deletionPathogenicrs80359641GRCh37Chr 13, 32929198: 32929201
968BRCA2NM_000059.3(BRCA2): c.7211_7212delAA (p.Lys2404Serfs)deletionPathogenicrs80359642GRCh37Chr 13, 32929201: 32929202
969BRCA2NM_000059.3(BRCA2): c.7226delC (p.Pro2409Leufs)deletionPathogenicrs80359643GRCh37Chr 13, 32929216: 32929216
970BRCA2NM_000059.3(BRCA2): c.7241C> G (p.Ser2414Ter)single nucleotide variantPathogenicrs80358951GRCh37Chr 13, 32929231: 32929231
971BRCA2NM_000059.3(BRCA2): c.7251_7252delCA (p.His2417Glnfs)deletionPathogenicrs397507907GRCh37Chr 13, 32929241: 32929242
972BRCA2NM_000059.3(BRCA2): c.7254_7255delAG (p.Arg2418Serfs)deletionPathogenicrs80359644GRCh37Chr 13, 32929244: 32929245
973BRCA2NM_000059.3(BRCA2): c.729_732delTGAT (p.Asn243Lysfs)deletionPathogenicrs80359645GRCh37Chr 13, 32905103: 32905106
974BRCA2NM_000059.3(BRCA2): c.733A> T (p.Arg245Ter)single nucleotide variantPathogenicrs80358959GRCh37Chr 13, 32905107: 32905107
975BRCA2NM_000059.3(BRCA2): c.7360delA (p.Ile2454Phefs)deletionPathogenicrs80359646GRCh37Chr 13, 32929350: 32929350
976BRCA2NM_000059.3(BRCA2): c.7443delT (p.Thr2482Glnfs)deletionPathogenicrs80359652GRCh37Chr 13, 32930572: 32930572
977BRCA2NM_000059.3(BRCA2): c.7474_7475delGA (p.Asp2492Tyrfs)deletionPathogenicrs80359653GRCh37Chr 13, 32930603: 32930604
978BRCA2NM_000059.3(BRCA2): c.748delG (p.Val250Terfs)deletionPathogenicrs80359654GRCh37Chr 13, 32905122: 32905122
979BRCA2NM_000059.3(BRCA2): c.7543delA (p.Thr2515Hisfs)deletionPathogenicrs80359658GRCh37Chr 13, 32930672: 32930672
980BRCA2NM_000059.3(BRCA2): c.7558C> T (p.Arg2520Ter)single nucleotide variantPathogenicrs80358981GRCh37Chr 13, 32930687: 32930687
981BRCA2NM_000059.3(BRCA2): c.755delA (p.Asp252Alafs)deletionPathogenicrs80359661GRCh37Chr 13, 32905129: 32905129
982BRCA2NM_000059.3(BRCA2): c.756_759delCAGT (p.Asp252Glufs)deletionPathogenicrs80359663GRCh37Chr 13, 32905130: 32905133
983BRCA2NM_000059.3(BRCA2): c.7593delT (p.Ser2533Leufs)deletionPathogenicrs80359665GRCh37Chr 13, 32930722: 32930722
984BRCA2NM_000059.3(BRCA2): c.7617+1G> Asingle nucleotide variantPathogenicrs397507922GRCh37Chr 13, 32930747: 32930747
985BRCA2NM_000059.3(BRCA2): c.7617+2T> Gsingle nucleotide variantPathogenicrs81002843GRCh37Chr 13, 32930748: 32930748
986BRCA2NM_000059.3(BRCA2): c.7647C> A (p.Cys2549Ter)single nucleotide variantPathogenicrs80358993GRCh37Chr 13, 32931908: 32931908
987BRCA2NM_000059.3(BRCA2): c.7655_7658delTTAA (p.Ile2552Thrfs)deletionPathogenicrs80359669GRCh37Chr 13, 32931916: 32931919
988BRCA2NM_000059.3(BRCA2): c.7679_7680delTT (p.Phe2560Serfs)deletionPathogenicrs80359673GRCh37Chr 13, 32931940: 32931941
989BRCA2NM_000059.3(BRCA2): c.7680dupT (p.Gln2561Serfs)duplicationPathogenicrs397507932GRCh37Chr 13, 32931941: 32931942
990BRCA2NM_000059.3(BRCA2): c.7681C> T (p.Gln2561Ter)single nucleotide variantPathogenicrs80358994GRCh37Chr 13, 32931942: 32931942
991BRCA2NM_000059.3(BRCA2): c.7689delC (p.His2563Glnfs)deletionPathogenicrs80359674GRCh37Chr 13, 32931950: 32931950
992BRCA2NM_000059.3(BRCA2): c.7721G> A (p.Trp2574Ter)single nucleotide variantPathogenicrs80358997GRCh37Chr 13, 32931982: 32931982
993BRCA2NM_000059.3(BRCA2): c.7738C> T (p.Gln2580Ter)single nucleotide variantPathogenicrs80358999GRCh37Chr 13, 32931999: 32931999
994BRCA2NM_000059.3(BRCA2): c.7761delC (p.Ile2588Tyrfs)deletionPathogenicrs80359678GRCh37Chr 13, 32932022: 32932022
995BRCA2NM_000059.3(BRCA2): c.7762delA (p.Ile2588Tyrfs)deletionPathogenicrs80359679GRCh37Chr 13, 32932023: 32932023
996BRCA2NM_000059.3(BRCA2): c.7805+1G> Asingle nucleotide variantPathogenicrs81002809GRCh37Chr 13, 32932067: 32932067
997BRCA2NM_000059.3(BRCA2): c.7806-1G> Tsingle nucleotide variantPathogenicrs81002860GRCh37Chr 13, 32936659: 32936659
998BRCA2NM_000059.3(BRCA2): c.7806_7807insAG (p.Ala2603Argfs)insertionPathogenicrs80359683GRCh37Chr 13, 32936660: 32936661
999BRCA2NM_000059.3(BRCA2): c.7847delC (p.Ser2616Leufs)deletionPathogenicrs80359685GRCh37Chr 13, 32936701: 32936701
1000BRCA2NM_000059.3(BRCA2): c.7863T> A (p.Tyr2621Ter)single nucleotide variantPathogenicrs276174896GRCh37Chr 13, 32936717: 32936717
1001BRCA2NM_000059.3(BRCA2): c.7886G> A (p.Trp2629Ter)single nucleotide variantPathogenicrs80359015GRCh37Chr 13, 32936740: 32936740
1002BRCA2NM_000059.3(BRCA2): c.7908T> A (p.Cys2636Ter)single nucleotide variantPathogenicrs80359016GRCh37Chr 13, 32936762: 32936762
1003BRCA2NM_000059.3(BRCA2): c.793+1G> Asingle nucleotide variantPathogenicrs81002846GRCh37Chr 13, 32905168: 32905168
1004BRCA2NM_000059.3(BRCA2): c.793+1G> Tsingle nucleotide variantPathogenicrs81002846GRCh37Chr 13, 32905168: 32905168
1005BRCA2NM_000059.3(BRCA2): c.7954delG (p.Val2652Cysfs)deletionPathogenicrs80359689GRCh37Chr 13, 32936808: 32936808
1006BRCA2NM_000059.3(BRCA2): c.7978T> G (p.Tyr2660Asp)single nucleotide variantLikely pathogenicrs80359029GRCh37Chr 13, 32937317: 32937317
1007BRCA2NM_000059.3(BRCA2): c.7988A> T (p.Glu2663Val)single nucleotide variantPathogenicrs80359031GRCh37Chr 13, 32937327: 32937327
1008BRCA2NM_000059.3(BRCA2): c.7996A> T (p.Arg2666Ter)single nucleotide variantPathogenicrs80359032GRCh37Chr 13, 32937335: 32937335
1009BRCA2NM_000059.3(BRCA2): c.8002A> T (p.Arg2668Ter)single nucleotide variantPathogenicrs276174900GRCh37Chr 13, 32937341: 32937341
1010BRCA2NM_000059.3(BRCA2): c.8029delG (p.Glu2677Lysfs)deletionPathogenicrs80359691GRCh37Chr 13, 32937368: 32937368
1011BRCA2NM_000059.3(BRCA2): c.8042_8043delCA (p.Thr2681Serfs)deletionPathogenicrs276174901GRCh37Chr 13, 32937381: 32937382
1012BRCA2NM_000059.3(BRCA2): c.8058delT (p.Val2687Phefs)deletionPathogenicrs80359692GRCh37Chr 13, 32937397: 32937397
1013BRCA2NM_000059.3(BRCA2): c.8067T> A (p.Cys2689Ter)single nucleotide variantPathogenicrs80359046GRCh37Chr 13, 32937406: 32937406
1014BRCA2NM_000059.3(BRCA2): c.8067delT (p.Cys2689Trpfs)deletionPathogenicrs80359693GRCh37Chr 13, 32937406: 32937406
1015BRCA2NM_000059.3(BRCA2): c.8068_8069delGT (p.Val2690Phefs)deletionPathogenicrs80359694GRCh37Chr 13, 32937407: 32937408
1016BRCA2NM_000059.3(BRCA2): c.8084C> G (p.Ser2695Ter)single nucleotide variantPathogenicrs80359048GRCh37Chr 13, 32937423: 32937423
1017BRCA2NM_000059.3(BRCA2): c.8087T> A (p.Leu2696Ter)single nucleotide variantPathogenicrs80359050GRCh37Chr 13, 32937426: 32937426
1018BRCA2NM_000059.3(BRCA2): c.8087delT (p.Leu2696Terfs)deletionPathogenicrs80359695GRCh37Chr 13, 32937426: 32937426
1019BRCA2NM_000059.3(BRCA2): c.809C> G (p.Ser270Ter)single nucleotide variantPathogenicrs276174902GRCh37Chr 13, 32906424: 32906424
1020BRCA2NM_000059.3(BRCA2): c.8130delT (p.Ser2710Argfs)deletionPathogenicrs80359696GRCh37Chr 13, 32937469: 32937469
1021BRCA2NM_000059.3(BRCA2): c.8140C> T (p.Gln2714Ter)single nucleotide variantPathogenicrs80359058GRCh37Chr 13, 32937479: 32937479
1022BRCA2NM_000059.3(BRCA2): c.818C> G (p.Ser273Ter)single nucleotide variantPathogenicrs80359068GRCh37Chr 13, 32906433: 32906433
1023BRCA2NM_000059.3(BRCA2): c.8234_8237delTGAC (p.Leu2745Glnfs)deletionPathogenicrs80359699GRCh37Chr 13, 32937573: 32937576
1024BRCA2NM_000059.3(BRCA2): c.8234dupT (p.Thr2746Aspfs)duplicationPathogenicrs276174903GRCh37Chr 13, 32937573: 32937574
1025BRCA2NM_000059.3(BRCA2): c.8237_8238delCA (p.Thr2746Serfs)deletionPathogenicrs80359700GRCh37Chr 13, 32937576: 32937577
1026BRCA2NM_000059.3(BRCA2): c.8247_8248delGA (p.Lys2750Aspfs)deletionPathogenicrs80359702GRCh37Chr 13, 32937586: 32937587
1027BRCA2NM_000059.3(BRCA2): c.8331+1G> Tsingle nucleotide variantPathogenicrs81002837GRCh37Chr 13, 32937671: 32937671
1028BRCA2NM_000059.3(BRCA2): c.8340_8343delTAAC (p.Asn2781Valfs)deletionPathogenicrs80359707GRCh37Chr 13, 32944547: 32944550
1029BRCA2NM_000059.3(BRCA2): c.8343delC (p.Asn2781Lysfs)deletionPathogenicrs80359708GRCh37Chr 13, 32944550: 32944550
1030BRCA2NM_000059.3(BRCA2): c.8394_8396delTAGinsAA (p.Arg2799Asnfs)indelPathogenicrs276174907GRCh37Chr 13, 32944601: 32944603
1031BRCA2NM_000059.3(BRCA2): c.8395delA (p.Arg2799Aspfs)deletionPathogenicrs80359709GRCh37Chr 13, 32944602: 32944602
1032BRCA2NM_000059.3(BRCA2): c.8436dupA (p.Gly2813Argfs)duplicationPathogenicrs80359710GRCh37Chr 13, 32944643: 32944644
1033BRCA2NM_000059.3(BRCA2): c.8474delC (p.Ala2825Aspfs)deletionPathogenicrs80359711GRCh37Chr 13, 32944681: 32944681
1034BRCA2NM_000059.3(BRCA2): c.8485C> T (p.Gln2829Ter)single nucleotide variantPathogenicrs80359099GRCh37Chr 13, 32944692: 32944692
1035BRCA2NM_000059.3(BRCA2): c.8489G> A (p.Trp2830Ter)single nucleotide variantPathogenicrs80359101GRCh37Chr 13, 32945094: 32945094
1036BRCA2NM_000059.3(BRCA2): c.8504C> A (p.Ser2835Ter)single nucleotide variantPathogenicrs80359102GRCh37Chr 13, 32945109: 32945109
1037BRCA2NM_000059.3(BRCA2): c.8505delA (p.Ser2836Leufs)deletionPathogenicrs80359713GRCh37Chr 13, 32945110: 32945110
1038BRCA2NM_000059.3(BRCA2): c.8535_8538delAGAG (p.Glu2846Lysfs)deletionPathogenicrs80359715GRCh37Chr 13, 32945140: 32945143
1039BRCA2NM_000059.3(BRCA2): c.8560delT (p.Tyr2854Metfs)deletionPathogenicrs80359717GRCh37Chr 13, 32945165: 32945165
1040BRCA2NM_000059.3(BRCA2): c.8572C> T (p.Gln2858Ter)single nucleotide variantPathogenicrs80359112GRCh37Chr 13, 32945177: 32945177
1041BRCA2NM_000059.3(BRCA2): c.8575C> T (p.Gln2859Ter)single nucleotide variantPathogenicrs80359115GRCh37Chr 13, 32945180: 32945180
1042BRCA2NM_000059.3(BRCA2): c.8594T> A (p.Leu2865Ter)single nucleotide variantPathogenicrs80359118GRCh37Chr 13, 32945199: 32945199
1043BRCA2NM_000059.3(BRCA2): c.8594dupT (p.Leu2865Phefs)duplicationPathogenicrs80359721GRCh37Chr 13, 32945199: 32945200
1044BRCA2NM_000059.3(BRCA2): c.8629G> T (p.Glu2877Ter)single nucleotide variantPathogenicrs80359121GRCh37Chr 13, 32945234: 32945234
1045BRCA2NM_000059.3(BRCA2): c.8633_8754del122 (p.Glu2878Glyfs)deletionPathogenicGRCh37Chr 13, 32950807: 32950928
1046BRCA2NM_000059.3(BRCA2): c.8636dupA (p.Asn2879Lysfs)duplicationPathogenicrs80359723GRCh37Chr 13, 32950810: 32950811
1047BRCA2NM_000059.3(BRCA2): c.8647delC (p.Pro2883Hisfs)deletionPathogenicrs276174910GRCh37Chr 13, 32950821: 32950821
1048BRCA2NM_000059.3(BRCA2): c.8673_8674delAA (p.Arg2892Thrfs)deletionPathogenicrs80359724GRCh37Chr 13, 32950847: 32950848
1049BRCA2NM_000059.3(BRCA2): c.8676delA (p.Arg2892Serfs)deletionPathogenicrs80359725GRCh37Chr 13, 32950850: 32950850
1050BRCA2NM_000059.3(BRCA2): c.86_87delTT (p.Leu29Glnfs)deletionPathogenicrs80359722GRCh37Chr 13, 32893232: 32893233
1051BRCA2NM_000059.3(BRCA2): c.8713_8716delTATG (p.Tyr2905Lysfs)deletionPathogenicrs80359726GRCh37Chr 13, 32950887: 32950890
1052BRCA2NM_000059.3(BRCA2): c.8754+4A> Gsingle nucleotide variantPathogenicrs81002893GRCh37Chr 13, 32950932: 32950932
1053BRCA2NM_000059.3(BRCA2): c.8756delG (p.Gly2919Valfs)deletionPathogenicrs80359728GRCh37Chr 13, 32953455: 32953455
1054BRCA2NM_000059.3(BRCA2): c.8770G> T (p.Glu2924Ter)single nucleotide variantPathogenicrs80359133GRCh37Chr 13, 32953469: 32953469
1055BRCA2NM_000059.3(BRCA2): c.8773C> T (p.Gln2925Ter)single nucleotide variantPathogenicrs80359134GRCh37Chr 13, 32953472: 32953472
1056BRCA2NM_000059.3(BRCA2): c.8789delA (p.Asn2930Ilefs)deletionPathogenicrs80359729GRCh37Chr 13, 32953488: 32953488
1057BRCA2NM_000059.3(BRCA2): c.880G> T (p.Glu294Ter)single nucleotide variantLikely pathogenic, Pathogenicrs397508009GRCh37Chr 13, 32906495: 32906495
1058BRCA2NM_000059.3(BRCA2): c.8848delAinsCT (p.Lys2950Leufs)indelPathogenicrs276174912GRCh37Chr 13, 32953547: 32953547
1059BRCA2NM_000059.3(BRCA2): c.8878C> T (p.Gln2960Ter)single nucleotide variantPathogenicrs80359140GRCh37Chr 13, 32953577: 32953577
1060BRCA2NM_000059.3(BRCA2): c.8912delA (p.Lys2971Serfs)deletionPathogenicrs80359731GRCh37Chr 13, 32953611: 32953611
1061BRCA2NM_000059.3(BRCA2): c.8933C> A (p.Ser2978Ter)single nucleotide variantPathogenicrs80359144GRCh37Chr 13, 32953632: 32953632
1062BRCA2NM_000059.3(BRCA2): c.8954-3C> Gsingle nucleotide variantPathogenicrs81002844GRCh37Chr 13, 32953884: 32953884
1063BRCA2NM_000059.3(BRCA2): c.8961_8964delGAGT (p.Ser2988Phefs)deletionPathogenicrs80359734GRCh37Chr 13, 32953894: 32953897
1064BRCA2NM_000059.3(BRCA2): c.8970G> A (p.Trp2990Ter)single nucleotide variantPathogenicrs80359149GRCh37Chr 13, 32953903: 32953903
1065BRCA2NM_000059.3(BRCA2): c.897_898insC (p.Val300Argfs)insertionPathogenicrs80359735GRCh37Chr 13, 32906512: 32906513
1066BRCA2NM_000059.3(BRCA2): c.8980_8983delTCAG (p.Ser2994Ilefs)deletionPathogenicrs80359737GRCh37Chr 13, 32953913: 32953916
1067BRCA2NM_000059.3(BRCA2): c.8999T> A (p.Leu3000Ter)single nucleotide variantPathogenicrs80359151GRCh37Chr 13, 32953932: 32953932
1068BRCA2NM_000059.3(BRCA2): c.9016_9017delTA (p.Tyr3006Glnfs)deletionPathogenicrs80359740GRCh37Chr 13, 32953949: 32953950
1069BRCA2NM_000059.3(BRCA2): c.901dupG (p.Asp301Glyfs)duplicationPathogenicrs80359738GRCh37Chr 13, 32906516: 32906517
1070BRCA2NM_000059.3(BRCA2): c.9027delT (p.His3010Ilefs)deletionPathogenicrs80359742GRCh37Chr 13, 32953960: 32953960
1071BRCA2NM_000059.3(BRCA2): c.9041C> A (p.Ser3014Ter)single nucleotide variantPathogenicrs80359156GRCh37Chr 13, 32953974: 32953974
1072BRCA2NM_000059.3(BRCA2): c.9054_9055delTA (p.Ser3018Argfs)deletionPathogenicrs80359743GRCh37Chr 13, 32953987: 32953988
1073BRCA2NM_000059.3(BRCA2): c.9057delA (p.Lys3019Asnfs)deletionPathogenicrs80359744GRCh37Chr 13, 32953990: 32953990
1074BRCA2NM_000059.3(BRCA2): c.9069_9076delTAACATAC (p.Asn3024Valfs)deletionPathogenicrs80359746GRCh37Chr 13, 32954002: 32954009
1075BRCA2NM_000059.3(BRCA2): c.9098_9099insA (p.Gln3034Serfs)insertionPathogenicrs80359747GRCh37Chr 13, 32954031: 32954032
1076BRCA2NM_000059.3(BRCA2): c.9099_9100delTC (p.Gln3034Valfs)deletionPathogenicrs80359748GRCh37Chr 13, 32954032: 32954033
1077BRCA2NM_000059.3(BRCA2): c.9100C> T (p.Gln3034Ter)single nucleotide variantPathogenicrs80359163GRCh37Chr 13, 32954033: 32954033
1078BRCA2NM_000059.3(BRCA2): c.9109C> T (p.Gln3037Ter)single nucleotide variantPathogenicrs397508037GRCh37Chr 13, 32954042: 32954042
1079BRCA2NM_000059.3(BRCA2): c.9117+1G> Asingle nucleotide variantPathogenicrs81002802GRCh37Chr 13, 32954051: 32954051
1080BRCA2NM_000059.3(BRCA2): c.9117+1G> Tsingle nucleotide variantPathogenicrs81002802GRCh37Chr 13, 32954051: 32954051
1081BRCA2NM_000059.3(BRCA2): c.9118-2A> Gsingle nucleotide variantPathogenicrs81002862GRCh37Chr 13, 32954142: 32954142
1082BRCA2NM_000059.3(BRCA2): c.9148C> T (p.Gln3050Ter)single nucleotide variantPathogenicrs80359170GRCh37Chr 13, 32954174: 32954174
1083BRCA2NM_000059.3(BRCA2): c.9154C> T (p.Arg3052Trp)single nucleotide variantPathogenicrs45580035GRCh37Chr 13, 32954180: 32954180
1084BRCA2NM_000059.3(BRCA2): c.9157delG (p.Glu3053Serfs)deletionPathogenicrs80359750GRCh37Chr 13, 32954183: 32954183
1085BRCA2NM_000059.3(BRCA2): c.9177delA (p.Lys3059Asnfs)deletionPathogenicrs80359751GRCh37Chr 13, 32954203: 32954203
1086BRCA2NM_000059.3(BRCA2): c.9182T> A (p.Leu3061Ter)single nucleotide variantPathogenicrs80359175GRCh37Chr 13, 32954208: 32954208
1087BRCA2NM_000059.3(BRCA2): c.9207T> A (p.Cys3069Ter)single nucleotide variantPathogenicrs80359183GRCh37Chr 13, 32954233: 32954233
1088BRCA2NM_000059.3(BRCA2): c.9256+1G> Asingle nucleotide variantPathogenicrs81002883GRCh37Chr 13, 32954283: 32954283
1089BRCA2NM_000059.3(BRCA2): c.9256G> T (p.Gly3086Ter)single nucleotide variantPathogenicrs80359192GRCh37Chr 13, 32954282: 32954282
1090BRCA2NM_000059.3(BRCA2): c.9269dupT (p.Val3091Argfs)duplicationPathogenicrs80359753GRCh37Chr 13, 32968838: 32968839
1091BRCA2NM_000059.3(BRCA2): c.9275_9278delATTT (p.Tyr3092Cysfs)deletionPathogenicrs80359754GRCh37Chr 13, 32968844: 32968847
1092BRCA2NM_000059.3(BRCA2): c.9276T> G (p.Tyr3092Ter)single nucleotide variantPathogenicrs80359197GRCh37Chr 13, 32968845: 32968845
1093BRCA2NM_000059.3(BRCA2): c.9285C> G (p.Asp3095Glu)single nucleotide variantPathogenicrs80359198GRCh37Chr 13, 32968854: 32968854
1094BRCA2NM_000059.3(BRCA2): c.9286G> T (p.Glu3096Ter)single nucleotide variantPathogenicrs80359199GRCh37Chr 13, 32968855: 32968855
1095BRCA2NM_000059.3(BRCA2): c.9310_9311delAA (p.Lys3104Valfs)deletionPathogenicrs80359756GRCh37Chr 13, 32968879: 32968880
1096BRCA2NM_000059.3(BRCA2): c.9317G> A (p.Trp3106Ter)single nucleotide variantPathogenicrs80359205GRCh37Chr 13, 32968886: 32968886
1097BRCA2NM_000059.3(BRCA2): c.9356T> G (p.Leu3119Ter)single nucleotide variantPathogenicrs80359207GRCh37Chr 13, 32968925: 32968925
1098BRCA2NM_000059.3(BRCA2): c.9360delT (p.Ile3120Metfs)deletionPathogenicrs80359757GRCh37Chr 13, 32968929: 32968929
1099BRCA2NM_000059.3(BRCA2): c.9376C> T (p.Gln3126Ter)single nucleotide variantPathogenicrs80359210GRCh37Chr 13, 32968945: 32968945
1100BRCA2NM_000059.3(BRCA2): c.9403delC (p.Leu3135Phefs)deletionPathogenicrs80359760GRCh37Chr 13, 32968972: 32968972
1101BRCA2NM_000059.3(BRCA2): c.9408delT (p.Thr3137Leufs)deletionPathogenicrs80359761GRCh37Chr 13, 32968977: 32968977
1102BRCA2NM_000059.3(BRCA2): c.9426_9427delTT (p.Ser3144Cysfs)deletionPathogenicrs80359762GRCh37Chr 13, 32968995: 32968996
1103BRCA2NM_000059.3(BRCA2): c.9455_9456delAG (p.Glu3152Glyfs)deletionPathogenicrs80359764GRCh37Chr 13, 32969024: 32969025
1104BRCA2NM_000059.3(BRCA2): c.9466delC (p.Gln3156Lysfs)deletionPathogenicrs80359766GRCh37Chr 13, 32969035: 32969035
1105BRCA2NM_000059.3(BRCA2): c.9481A> T (p.Lys3161Ter)single nucleotide variantPathogenicrs80359222GRCh37Chr 13, 32969050: 32969050
1106BRCA2NM_000059.3(BRCA2): c.9501G> A (p.Glu3167=)single nucleotide variantPathogenicrs80359808GRCh37Chr 13, 32969070: 32969070
1107BRCA2NM_000059.3(BRCA2): c.9507delT (p.Ile3169Metfs)deletionPathogenicrs80359767GRCh37Chr 13, 32971040: 32971040
1108BRCA2NM_000059.3(BRCA2): c.9513_9516delACTT (p.Leu3172Alafs)deletionPathogenicrs80359769GRCh37Chr 13, 32971046: 32971049
1109BRCA2NM_000059.3(BRCA2): c.9541_9554delATGCATATACTGCA (p.Met3181Cysfs)deletionPathogenicrs397508062GRCh37Chr 13, 32971074: 32971087
1110BRCA2NM_000059.3(BRCA2): c.956dupA (p.Asn319Lysfs)duplicationPathogenicrs80359770GRCh37Chr 13, 32906571: 32906572
1111BRCA2NM_000059.3(BRCA2): c.961C> T (p.Gln321Ter)single nucleotide variantPathogenicrs80359234GRCh37Chr 13, 32906576: 32906576
1112BRCA2NM_000059.3(BRCA2): c.9649-2A> Gsingle nucleotide variantPathogenicrs81002895GRCh37Chr 13, 32972297: 32972297
1113BRCA2NM_000059.3(BRCA2): c.9676delT (p.Tyr3226Ilefs)deletionPathogenicrs80359774GRCh37Chr 13, 32972326: 32972326
1114BRCA2NM_000059.3(BRCA2): c.9868delG (p.Val3290Phefs)deletionPathogenicrs80359776GRCh37Chr 13, 32972518: 32972518
1115BRCA2NM_000059.3(BRCA2): c.9883C> T (p.Gln3295Ter)single nucleotide variantPathogenicrs80359247GRCh37Chr 13, 32972533: 32972533
1116BRCA2NM_000059.3(BRCA2): c.9925G> T (p.Glu3309Ter)single nucleotide variantPathogenicrs80359251GRCh37Chr 13, 32972575: 32972575
1117BRCA2NM_000059.3(BRCA2): c.993_994delAA (p.Lys331Asnfs)deletionPathogenicrs80359777GRCh37Chr 13, 32906608: 32906609
1118BRCA2NM_000059.3(BRCA2): c.994delA (p.Ile332Phefs)deletionPathogenicrs80359778GRCh37Chr 13, 32906609: 32906609
1119BRCA1NM_007294.3(BRCA1): c.1008dupA (p.Glu337Argfs)duplicationPathogenicrs67284603GRCh37Chr 17, 41246539: 41246540
1120BRCA1NM_007294.3(BRCA1): c.101delC (p.Pro34Leufs)deletionPathogenicrs80357750GRCh37Chr 17, 41267776: 41267776
1121BRCA1NM_007294.3(BRCA1): c.1045G> T (p.Glu349Ter)single nucleotide variantPathogenicrs80357338GRCh37Chr 17, 41246503: 41246503
1122BRCA1NM_007294.3(BRCA1): c.1054G> T (p.Glu352Ter)single nucleotide variantPathogenicrs80357472GRCh37Chr 17, 41246494: 41246494
1123BRCA1NM_007294.3(BRCA1): c.1058G> A (p.Trp353Ter)single nucleotide variantPathogenicrs80356908GRCh37Chr 17, 41246490: 41246490
1124BRCA1NM_007294.3(BRCA1): c.1059G> A (p.Trp353Ter)single nucleotide variantPathogenicrs80356935GRCh37Chr 17, 41246489: 41246489
1125BRCA1NM_007294.3(BRCA1): c.1066C> T (p.Gln356Ter)single nucleotide variantPathogenicrs80357215GRCh37Chr 17, 41246482: 41246482
1126BRCA1NM_007294.3(BRCA1): c.1067delA (p.Gln356Argfs)deletionPathogenicrs80357796GRCh37Chr 17, 41246481: 41246481
1127BRCA1NM_007294.3(BRCA1): c.1072delC (p.Leu358Cysfs)deletionPathogenicrs80357836GRCh37Chr 17, 41246476: 41246476
1128BRCA1NM_007294.3(BRCA1): c.1082_1092delCAGAGAATCCT (p.Ser361Terfs)deletionPathogenicrs80359880GRCh37Chr 17, 41246456: 41246466
1129BRCA1NM_007294.3(BRCA1): c.1086_1087delGA (p.Asn363Serfs)deletionPathogenicrs80357897GRCh37Chr 17, 41246461: 41246462
1130BRCA1NM_007294.3(BRCA1): c.1088delA (p.Asn363Ilefs)deletionPathogenicrs80357954GRCh37Chr 17, 41246460: 41246460
1131BRCA1NM_007294.3(BRCA1): c.1102G> T (p.Glu368Ter)single nucleotide variantPathogenicrs80357139GRCh37Chr 17, 41246446: 41246446
1132BRCA1NM_007294.3(BRCA1): c.1121_1123delCACinsT (p.Thr374Ilefs)indelPathogenicrs273897652GRCh37Chr 17, 41246425: 41246427
1133BRCA1NM_007294.3(BRCA1): c.112_113delAA (p.Lys38Valfs)deletionPathogenicrs80357949GRCh37Chr 17, 41267764: 41267765
1134BRCA1NM_007294.3(BRCA1): c.1141A> T (p.Lys381Ter)single nucleotide variantPathogenicrs80357385GRCh37Chr 17, 41246407: 41246407
1135BRCA1NM_007294.3(BRCA1): c.115T> C (p.Cys39Arg)single nucleotide variantPathogenicrs80357164GRCh37Chr 17, 41267762: 41267762
1136BRCA1NM_007294.3(BRCA1): c.1165delA (p.Ser389Valfs)deletionPathogenicrs80357985GRCh37Chr 17, 41246383: 41246383
1137BRCA1NM_007294.3(BRCA1): c.1166delG (p.Ser389Metfs)deletionPathogenicrs273897653GRCh37Chr 17, 41246382: 41246382
1138BRCA1NM_007294.3(BRCA1): c.117_118delTG (p.Cys39Terfs)deletionPathogenicrs80357972GRCh37Chr 17, 41267759: 41267760
1139BRCA1NM_007294.3(BRCA1): c.1193C> G (p.Ser398Ter)single nucleotide variantPathogenicrs80357068GRCh37Chr 17, 41246355: 41246355
1140BRCA1NM_007294.3(BRCA1): c.1204delG (p.Glu402Serfs)deletionPathogenicrs80357859GRCh37Chr 17, 41246344: 41246344
1141BRCA1NM_007294.3(BRCA1): c.1214C> A (p.Ser405Ter)single nucleotide variantPathogenicrs80357481GRCh37Chr 17, 41246334: 41246334
1142BRCA1NM_007294.3(BRCA1): c.1240_1246delGACGTTC (p.Asp414Terfs)deletionPathogenicrs80357964GRCh37Chr 17, 41246302: 41246308
1143BRCA1NM_007294.3(BRCA1): c.1241dupA (p.Asp414Glufs)duplicationPathogenicrs80357514GRCh37Chr 17, 41246306: 41246307
1144BRCA1NM_007294.3(BRCA1): c.124delA (p.Ile42Tyrfs)deletionPathogenicrs80357943GRCh37Chr 17, 41267753: 41267753
1145BRCA1NM_007294.3(BRCA1): c.1252G> T (p.Glu418Ter)single nucleotide variantPathogenicrs80357083GRCh37Chr 17, 41246296: 41246296
1146BRCA1NM_007294.3(BRCA1): c.1255delG (p.Val419Terfs)deletionPathogenicrs80357535GRCh37Chr 17, 41246293: 41246293
1147BRCA1NM_007294.3(BRCA1): c.1265dupA (p.Tyr422Terfs)duplicationPathogenicrs80357809GRCh37Chr 17, 41246282: 41246283
1148BRCA1NM_007294.3(BRCA1): c.1266T> G (p.Tyr422Ter)single nucleotide variantPathogenicrs80357417GRCh37Chr 17, 41246282: 41246282
1149BRCA1NM_007294.3(BRCA1): c.1276delT (p.Ser426Glnfs)deletionPathogenicrs80357766GRCh37Chr 17, 41246272: 41246272
1150BRCA1NM_007294.3(BRCA1): c.1287dupA (p.Asp430Argfs)duplicationPathogenicrs80357576GRCh37Chr 17, 41246260: 41246261
1151BRCA1NM_007294.3(BRCA1): c.1292T> G (p.Leu431Ter)single nucleotide variantPathogenicrs80357346GRCh37Chr 17, 41246256: 41246256
1152BRCA1NM_007294.3(BRCA1): c.1292dupT (p.Leu431Phefs)duplicationPathogenicrs80357528GRCh37Chr 17, 41246255: 41246256
1153BRCA1NM_007294.3(BRCA1): c.1297delG (p.Ala433Profs)deletionPathogenicrs80357794GRCh37Chr 17, 41246251: 41246251
1154BRCA1NM_007294.3(BRCA1): c.130delT (p.Cys44Alafs)deletionPathogenicrs80357951GRCh37Chr 17, 41267747: 41267747
1155BRCA1NM_007294.3(BRCA1): c.1319delT (p.Leu440Terfs)deletionPathogenicrs80357683GRCh37Chr 17, 41246229: 41246229
1156BRCA1NM_007294.3(BRCA1): c.131G> A (p.Cys44Tyr)single nucleotide variantPathogenicrs80357446GRCh37Chr 17, 41267746: 41267746
1157BRCA1NM_007294.3(BRCA1): c.131G> T (p.Cys44Phe)single nucleotide variantPathogenicrs80357446GRCh37Chr 17, 41267746: 41267746
1158BRCA1NM_007294.3(BRCA1): c.1323_1324delAT (p.Ile441Metfs)deletionPathogenicrs80357570GRCh37Chr 17, 41246224: 41246225
1159BRCA1NM_007294.3(BRCA1): c.1333G> T (p.Glu445Ter)single nucleotide variantPathogenicrs80356915GRCh37Chr 17, 41246215: 41246215
1160BRCA1NM_007294.3(BRCA1): c.1335_1336delAA (p.Arg446Serfs)deletionPathogenicrs80357978GRCh37Chr 17, 41246212: 41246213
1161BRCA1NM_007294.3(BRCA1): c.134+1G> Tsingle nucleotide variantPathogenicrs80358043GRCh37Chr 17, 41267742: 41267742
1162BRCA1NM_007294.3(BRCA1): c.134+2T> Gsingle nucleotide variantPathogenicrs80358131GRCh37Chr 17, 41267741: 41267741
1163BRCA1NM_007294.3(BRCA1): c.135-1G> Csingle nucleotide variantPathogenicrs80358158GRCh37Chr 17, 41258551: 41258551
1164BRCA1NM_007294.3(BRCA1): c.1352C> A (p.Ser451Ter)single nucleotide variantPathogenicrs80356891GRCh37Chr 17, 41246196: 41246196
1165BRCA1NM_007294.3(BRCA1): c.1352C> G (p.Ser451Ter)single nucleotide variantPathogenicrs80356891GRCh37Chr 17, 41246196: 41246196
1166BRCA1NM_007294.3(BRCA1): c.1380dupA (p.Phe461Ilefs)duplicationPathogenicrs80357714GRCh37Chr 17, 41246167: 41246168
1167BRCA1NM_007294.3(BRCA1): c.1383delT (p.Phe461Leufs)deletionPathogenicrs80357879GRCh37Chr 17, 41246165: 41246165
1168BRCA1NM_007294.3(BRCA1): c.1386delG (p.Thr464Profs)deletionPathogenicrs80357722GRCh37Chr 17, 41246162: 41246162
1169BRCA1NM_007294.3(BRCA1): c.1390delA (p.Thr464Profs)deletionPathogenicrs80357770GRCh37Chr 17, 41246158: 41246158
1170BRCA1NM_007294.3(BRCA1): c.1399A> T (p.Lys467Ter)single nucleotide variantPathogenicrs80357279GRCh37Chr 17, 41246149: 41246149
1171BRCA1NM_007294.3(BRCA1): c.1421T> G (p.Leu474Ter)single nucleotide variantPathogenicrs80357490GRCh37Chr 17, 41246127: 41246127
1172BRCA1NM_007294.3(BRCA1): c.1444delA (p.Ile482Leufs)deletionPathogenicrs80357648GRCh37Chr 17, 41246104: 41246104
1173BRCA1NM_007294.3(BRCA1): c.144delG (p.Met48Ilefs)deletionPathogenicrs80357682GRCh37Chr 17, 41258541: 41258541
1174BRCA1NM_007294.3(BRCA1): c.1450G> T (p.Gly484Ter)single nucleotide variantPathogenicrs80357304GRCh37Chr 17, 41246098: 41246098
1175BRCA1NM_007294.3(BRCA1): c.1492delC (p.Leu498Serfs)deletionPathogenicrs80357527GRCh37Chr 17, 41246056: 41246056
1176BRCA1NM_007294.3(BRCA1): c.1497_1500delAAAT (p.Lys501Terfs)deletionPathogenicrs80357632GRCh37Chr 17, 41246048: 41246051
1177BRCA1NM_007294.3(BRCA1): c.1508delA (p.Lys503Serfs)deletionPathogenicrs80357506GRCh37Chr 17, 41246040: 41246040
1178BRCA1NM_007294.3(BRCA1): c.150delA (p.Lys50Asnfs)deletionPathogenicrs273897662GRCh37Chr 17, 41258535: 41258535
1179BRCA1NM_007294.3(BRCA1): c.1511dupG (p.Lys505Terfs)duplicationPathogenicrs80357817GRCh37Chr 17, 41246036: 41246037
1180BRCA1NM_007294.3(BRCA1): c.1523delC (p.Pro508Leufs)deletionPathogenicrs80357782GRCh37Chr 17, 41246025: 41246025
1181BRCA1NM_007294.3(BRCA1): c.1529C> G (p.Ser510Ter)single nucleotide variantPathogenicrs80357427GRCh37Chr 17, 41246019: 41246019
1182BRCA1NM_007294.3(BRCA1): c.1530delA (p.Gly511Alafs)deletionPathogenicrs80357735GRCh37Chr 17, 41246018: 41246018
1183BRCA1NM_007294.3(BRCA1): c.1551delT (p.Phe517Leufs)deletionPathogenicrs80357630GRCh37Chr 17, 41245997: 41245997
1184BRCA1NM_007294.3(BRCA1): c.1608_1611delTAAC (p.Asn537Lysfs)deletionPathogenicrs80357698GRCh37Chr 17, 41245937: 41245940
1185BRCA1NM_007294.3(BRCA1): c.1612C> T (p.Gln538Ter)single nucleotide variantPathogenicrs80356893GRCh37Chr 17, 41245936: 41245936
1186BRCA1NM_007294.3(BRCA1): c.1621C> T (p.Gln541Ter)single nucleotide variantPathogenicrs80356904GRCh37Chr 17, 41245927: 41245927
1187BRCA1NM_007294.3(BRCA1): c.1630C> T (p.Gln544Ter)single nucleotide variantPathogenicrs80356952GRCh37Chr 17, 41245918: 41245918
1188BRCA1NM_007294.3(BRCA1): c.1636_1654del19 (p.Met546Valfs)deletionPathogenicrs80359881GRCh37Chr 17, 41245894: 41245912
1189BRCA1NM_007294.3(BRCA1): c.1649delA (p.Asn550Ilefs)deletionPathogenicrs80357619GRCh37Chr 17, 41245899: 41245899
1190BRCA1NM_007294.3(BRCA1): c.1713_1717delAGAAT (p.Glu572Thrfs)deletionPathogenicrs80357640GRCh37Chr 17, 41245831: 41245835
1191BRCA1NM_007294.3(BRCA1): c.1729_1730delGA (p.Glu577Ilefs)deletionPathogenicrs80357834GRCh37Chr 17, 41245818: 41245819
1192BRCA1NM_007294.3(BRCA1): c.1747A> T (p.Lys583Ter)single nucleotide variantPathogenicrs80356928GRCh37Chr 17, 41245801: 41245801
1193BRCA1NM_007294.3(BRCA1): c.1772delT (p.Ile591Lysfs)deletionPathogenicrs80357901GRCh37Chr 17, 41245776: 41245776
1194BRCA1NM_007294.3(BRCA1): c.1789G> T (p.Glu597Ter)single nucleotide variantPathogenicrs55650082GRCh37Chr 17, 41245759: 41245759
1195BRCA1NM_007294.3(BRCA1): c.178C> T (p.Gln60Ter)single nucleotide variantPathogenicrs80357471GRCh37Chr 17, 41258507: 41258507
1196BRCA1NM_007294.3(BRCA1): c.1793T> A (p.Leu598Ter)single nucleotide variantPathogenicrs80357118GRCh37Chr 17, 41245755: 41245755
1197BRCA1NM_007294.3(BRCA1): c.1793T> G (p.Leu598Ter)single nucleotide variantPathogenicrs80357118GRCh37Chr 17, 41245755: 41245755
1198BRCA1NM_007294.3(BRCA1): c.179delA (p.Gln60Argfs)deletionPathogenicrs80357591GRCh37Chr 17, 41258506: 41258506
1199BRCA1NM_007294.3(BRCA1): c.1819A> T (p.Lys607Ter)single nucleotide variantPathogenicrs80357220GRCh37Chr 17, 41245729: 41245729
1200BRCA1NM_007294.3(BRCA1): c.1825delA (p.Asn609Ilefs)deletionPathogenicrs80357736GRCh37Chr 17, 41245723: 41245723
1201BRCA1NM_007294.3(BRCA1): c.182G> A (p.Cys61Tyr)single nucleotide variantPathogenicrs80357093GRCh37Chr 17, 41258503: 41258503
1202BRCA1NM_007294.3(BRCA1): c.1837delA (p.Arg613Glyfs)deletionPathogenicrs80357652GRCh37Chr 17, 41245711: 41245711
1203BRCA1NM_007294.3(BRCA1): c.1840A> T (p.Lys614Ter)single nucleotide variantPathogenicrs80357282GRCh37Chr 17, 41245708: 41245708
1204BRCA1NM_007294.3(BRCA1): c.1870G> T (p.Glu624Ter)single nucleotide variantPathogenicrs80356950GRCh37Chr 17, 41245678: 41245678
1205BRCA1NM_007294.3(BRCA1): c.1881_1884delCAGT (p.Ser628Glufs)deletionPathogenicrs80357567GRCh37Chr 17, 41245664: 41245667
1206BRCA1NM_007294.3(BRCA1): c.188T> A (p.Leu63Ter)single nucleotide variantPathogenicrs80357086GRCh37Chr 17, 41258497: 41258497
1207BRCA1NM_007294.3(BRCA1): c.1892dupT (p.Ser632Lysfs)duplicationPathogenicrs80357932GRCh37Chr 17, 41245655: 41245656
1208BRCA1NM_007294.3(BRCA1): c.1898delC (p.Pro633Hisfs)deletionPathogenicrs80357851GRCh37Chr 17, 41245650: 41245650
1209BRCA1NM_007294.3(BRCA1): c.189dupA (p.Cys64Metfs)duplicationPathogenicrs273897665GRCh37Chr 17, 41258495: 41258496
1210BRCA1NM_007294.3(BRCA1): c.1912G> T (p.Glu638Ter)single nucleotide variantPathogenicrs80357005GRCh37Chr 17, 41245636: 41245636
1211BRCA1NM_007294.3(BRCA1): c.1912delG (p.Glu638Asnfs)deletionPathogenicrs80357933GRCh37Chr 17, 41245636: 41245636
1212BRCA1NM_007294.3(BRCA1): c.1945G> T (p.Glu649Ter)single nucleotide variantPathogenicrs80356907GRCh37Chr 17, 41245603: 41245603
1213BRCA1NM_007294.3(BRCA1): c.1952dupA (p.Lys652Glufs)duplicationPathogenicrs80357885GRCh37Chr 17, 41245595: 41245596
1214BRCA1NM_007294.3(BRCA1): c.1953dupG (p.Lys652Glufs)duplicationPathogenicrs80357753GRCh37Chr 17, 41245594: 41245595
1215BRCA1NM_007294.3(BRCA1): c.195delG (p.Asn66Metfs)deletionPathogenicrs80357869GRCh37Chr 17, 41258490: 41258490
1216BRCA1NM_007294.3(BRCA1): c.1960_1961delAA (p.Lys654Valfs)deletionPathogenicrs80357643GRCh37Chr 17, 41245587: 41245588
1217BRCA1NM_007294.3(BRCA1): c.1996delC (p.Leu666Tyrfs)deletionPathogenicrs80357922GRCh37Chr 17, 41245552: 41245552
1218BRCA1NM_007294.3(BRCA1): c.1999C> T (p.Gln667Ter)single nucleotide variantPathogenicrs80356889GRCh37Chr 17, 41245549: 41245549
1219BRCA1NM_007294.3(BRCA1): c.2017delG (p.Glu673Asnfs)deletionPathogenicrs80357638GRCh37Chr 17, 41245531: 41245531
1220BRCA1NM_007294.3(BRCA1): c.2019delA (p.Glu673Aspfs)deletionPathogenicrs80357626GRCh37Chr 17, 41245529: 41245529
1221BRCA1NM_007294.3(BRCA1): c.2059C> T (p.Gln687Ter)single nucleotide variantPathogenicrs273898674GRCh37Chr 17, 41245489: 41245489
1222BRCA1NM_007294.3(BRCA1): c.2074delC (p.His692Metfs)deletionPathogenicrs80357554GRCh37Chr 17, 41245474: 41245474
1223BRCA1NM_007294.3(BRCA1): c.2079_2080delCA (p.Asp693Glufs)deletionPathogenicrs80357773GRCh37Chr 17, 41245468: 41245469
1224BRCA1NM_007294.3(BRCA1): c.2105T> G (p.Leu702Ter)single nucleotide variantPathogenicrs80357298GRCh37Chr 17, 41245443: 41245443
1225BRCA1NM_007294.3(BRCA1): c.2110_2111delAA (p.Asn704Cysfs)deletionPathogenicrs80357814GRCh37Chr 17, 41245437: 41245438
1226BRCA1NM_007294.3(BRCA1): c.212+1G> Csingle nucleotide variantPathogenicrs80358042GRCh37Chr 17, 41258472: 41258472
1227BRCA1NM_007294.3(BRCA1): c.212+1G> Tsingle nucleotide variantPathogenicrs80358042GRCh37Chr 17, 41258472: 41258472
1228BRCA1NM_007294.3(BRCA1): c.212+2T> Csingle nucleotide variantPathogenicrs80358026GRCh37Chr 17, 41258471: 41258471
1229BRCA1NM_007294.3(BRCA1): c.212+3A> Gsingle nucleotide variantPathogenicrs80358083GRCh37Chr 17, 41258470: 41258470
1230BRCA1NM_007294.3(BRCA1): c.2125_2126insA (p.Phe709Tyrfs)insertionPathogenicrs80357871GRCh37Chr 17, 41245422: 41245423
1231BRCA1NM_007294.3(BRCA1): c.212G> A (p.Arg71Lys)single nucleotide variantPathogenicrs80356913GRCh37Chr 17, 41258473: 41258473
1232BRCA1NM_007294.3(BRCA1): c.213-1G> Asingle nucleotide variantPathogenicrs80358146GRCh37Chr 17, 41256974: 41256974
1233BRCA1NM_007294.3(BRCA1): c.2142delT (p.Asn714Lysfs)deletionPathogenicrs273898679GRCh37Chr 17, 41245406: 41245406
1234BRCA1NM_007294.3(BRCA1): c.2176delC (p.Leu726Phefs)deletionPathogenicrs80357668GRCh37Chr 17, 41245372: 41245372
1235BRCA1NM_007294.3(BRCA1): c.2188G> T (p.Glu730Ter)single nucleotide variantPathogenicrs80357058GRCh37Chr 17, 41245360: 41245360
1236BRCA1NM_007294.3(BRCA1): c.2188_2201delGAAAAAGAAGAGAA (p.Glu730Thrfs)deletionPathogenicrs273898681GRCh37Chr 17, 41245347: 41245360
1237BRCA1NM_007294.3(BRCA1): c.2194G> T (p.Glu732Ter)single nucleotide variantPathogenicrs80357426GRCh37Chr 17, 41245354: 41245354
1238BRCA1NM_007294.3(BRCA1): c.2197G> T (p.Glu733Ter)single nucleotide variantPathogenicrs397508949GRCh37Chr 17, 41245351: 41245351
1239BRCA1NM_007294.3(BRCA1): c.2197_2201delGAGAA (p.Glu733Thrfs)deletionPathogenicrs80357539GRCh37Chr 17, 41245347: 41245351
1240BRCA1NM_007294.3(BRCA1): c.2202delA (p.Lys734Asnfs)deletionPathogenicrs80357982GRCh37Chr 17, 41245346: 41245346
1241BRCA1NM_007294.3(BRCA1): c.2203delC (p.Leu735Terfs)deletionPathogenicrs80357936GRCh37Chr 17, 41245345: 41245345
1242BRCA1NM_007294.3(BRCA1): c.2206delG (p.Glu736Lysfs)deletionPathogenicrs80357860GRCh37Chr 17, 41245342: 41245342
1243BRCA1NM_007294.3(BRCA1): c.220C> T (p.Gln74Ter)single nucleotide variantPathogenicrs80357234GRCh37Chr 17, 41256966: 41256966
1244BRCA1NM_007294.3(BRCA1): c.2210delC (p.Thr737Lysfs)deletionPathogenicrs80357793GRCh37Chr 17, 41245338: 41245338
1245BRCA1NM_007294.3(BRCA1): c.2215A> T (p.Lys739Ter)single nucleotide variantPathogenicrs56329598GRCh37Chr 17, 41245333: 41245333
1246BRCA1NM_007294.3(BRCA1): c.2236dupG (p.Asp746Glyfs)duplicationPathogenicrs80357909GRCh37Chr 17, 41245311: 41245312
1247BRCA1NM_007294.3(BRCA1): c.2241delC (p.Asp749Ilefs)deletionPathogenicrs80357650GRCh37Chr 17, 41245307: 41245307
1248BRCA1NM_007294.3(BRCA1): c.2241dupC (p.Lys748Glnfs)duplicationPathogenicrs397508953GRCh37Chr 17, 41245306: 41245307
1249BRCA1NM_007294.3(BRCA1): c.224_227delAAAG (p.Glu75Valfs)deletionPathogenicrs80357697GRCh37Chr 17, 41256959: 41256962
1250BRCA1NM_007294.3(BRCA1): c.2253_2254delGT (p.Met751Ilefs)deletionPathogenicrs80357602GRCh37Chr 17, 41245294: 41245295
1251BRCA1NM_007294.3(BRCA1): c.2263G> T (p.Glu755Ter)single nucleotide variantPathogenicrs41286296GRCh37Chr 17, 41245285: 41245285
1252BRCA1NM_007294.3(BRCA1): c.2263delG (p.Glu755Lysfs)deletionPathogenicrs80357960GRCh37Chr 17, 41245285: 41245285
1253BRCA1NM_007294.3(BRCA1): c.2275C> T (p.Gln759Ter)single nucleotide variantPathogenicrs80356999GRCh37Chr 17, 41245273: 41245273
1254BRCA1NM_007294.3(BRCA1): c.2283_2284delAA (p.Arg762Ilefs)deletionPathogenicrs80357657GRCh37Chr 17, 41245264: 41245265
1255BRCA1NM_007294.3(BRCA1): c.2293G> T (p.Glu765Ter)single nucleotide variantPathogenicrs80357449GRCh37Chr 17, 41245255: 41245255
1256BRCA1NM_007294.3(BRCA1): c.2309C> A (p.Ser770Ter)single nucleotide variantPathogenicrs80357063GRCh37Chr 17, 41245239: 41245239
1257BRCA1NM_007294.3(BRCA1): c.232delA (p.Arg78Aspfs)deletionPathogenicrs80357884GRCh37Chr 17, 41256954: 41256954
1258BRCA1NM_007294.3(BRCA1): c.2331T> A (p.Tyr777Ter)single nucleotide variantPathogenicrs80357444GRCh37Chr 17, 41245217: 41245217
1259BRCA1NM_007294.3(BRCA1): c.2338C> T (p.Gln780Ter)single nucleotide variantPathogenicrs80356945GRCh37Chr 17, 41245210: 41245210
1260BRCA1NM_007294.3(BRCA1): c.2351_2357delCGTTACT (p.Ser784Trpfs)deletionPathogenicrs80357820GRCh37Chr 17, 41245191: 41245197
1261BRCA1NM_007294.3(BRCA1): c.2359dupG (p.Glu787Glyfs)duplicationPathogenicrs80357739GRCh37Chr 17, 41245188: 41245189
1262BRCA1NM_007294.3(BRCA1): c.2389_2390delGA (p.Glu797Thrfs)deletionPathogenicrs80357695GRCh37Chr 17, 41245158: 41245159
1263BRCA1NM_007294.3(BRCA1): c.2390_2391delAA (p.Glu797Alafs)deletionPathogenicrs80357546GRCh37Chr 17, 41245157: 41245158
1264BRCA1NM_007294.3(BRCA1): c.2393delC (p.Pro798Glnfs)deletionPathogenicrs80357850GRCh37Chr 17, 41245155: 41245155
1265BRCA1NM_007294.3(BRCA1): c.2403T> A (p.Cys801Ter)single nucleotide variantPathogenicrs80357381GRCh37Chr 17, 41245145: 41245145
1266BRCA1NM_007294.3(BRCA1): c.2405_2406delTG (p.Val802Glufs)deletionPathogenicrs80357706GRCh37Chr 17, 41245142: 41245143
1267BRCA1NM_007294.3(BRCA1): c.2406_2409delGAGT (p.Gln804Valfs)deletionPathogenicrs80357674GRCh37Chr 17, 41245139: 41245142
1268BRCA1NM_007294.3(BRCA1): c.2410C> T (p.Gln804Ter)single nucleotide variantPathogenicrs80356982GRCh37Chr 17, 41245138: 41245138
1269BRCA1NM_007294.3(BRCA1): c.241C> T (p.Gln81Ter)single nucleotide variantPathogenicrs80357350GRCh37Chr 17, 41256945: 41256945
1270BRCA1NM_007294.3(BRCA1): c.2437G> T (p.Gly813Ter)single nucleotide variantPathogenicrs80357186GRCh37Chr 17, 41245111: 41245111
1271BRCA1NM_007294.3(BRCA1): c.2443delA (p.Ile815Phefs)deletionPathogenicrs80357598GRCh37Chr 17, 41245105: 41245105
1272BRCA1NM_007294.3(BRCA1): c.2450delG (p.Gly817Valfs)deletionPathogenicrs80357679GRCh37Chr 17, 41245098: 41245098
1273BRCA1NM_007294.3(BRCA1): c.2468delG (p.Arg823Lysfs)deletionPathogenicrs80357799GRCh37Chr 17, 41245080: 41245080
1274BRCA1NM_007294.3(BRCA1): c.2476delA (p.Thr826Glnfs)deletionPathogenicrs80357631GRCh37Chr 17, 41245072: 41245072
1275BRCA1NM_007294.3(BRCA1): c.2477_2478delCA (p.Thr826Argfs)deletionPathogenicrs80357800GRCh37Chr 17, 41245070: 41245071
1276BRCA1NM_007294.3(BRCA1): c.2477delC (p.Thr826Lysfs)deletionPathogenicrs80357740GRCh37Chr 17, 41245071: 41245071
1277BRCA1NM_007294.3(BRCA1): c.2487delT (p.Phe829Leufs)deletionPathogenicrs80357658GRCh37Chr 17, 41245061: 41245061
1278BRCA1NM_007294.3(BRCA1): c.2513delA (p.Asn838Thrfs)deletionPathogenicrs80357863GRCh37Chr 17, 41245035: 41245035
1279BRCA1NM_007294.3(BRCA1): c.2517_2518delCA (p.His839Glnfs)deletionPathogenicrs397508974GRCh37Chr 17, 41245030: 41245031
1280BRCA1NM_007294.3(BRCA1): c.2558dupA (p.Asp853Glufs)duplicationPathogenicrs80357835GRCh37Chr 17, 41244989: 41244990
1281BRCA1NM_007294.3(BRCA1): c.2568T> G (p.Tyr856Ter)single nucleotide variantPathogenicrs80356832GRCh37Chr 17, 41244980: 41244980
1282BRCA1NM_007294.3(BRCA1): c.2594delA (p.Lys865Serfs)deletionPathogenicrs397508984GRCh37Chr 17, 41244954: 41244954
1283BRCA1NM_007294.3(BRCA1): c.2611_2612delCC (p.Pro871Valfs)deletionPathogenicrs80357962GRCh37Chr 17, 41244936: 41244937
1284BRCA1NM_007294.3(BRCA1): c.2612_2613insT (p.Phe872Valfs)insertionPathogenicrs80357948GRCh37Chr 17, 41244935: 41244936
1285BRCA1NM_007294.3(BRCA1): c.2617dupT (p.Ser873Phefs)duplicationPathogenicrs80357912GRCh37Chr 17, 41244930: 41244931
1286BRCA1NM_007294.3(BRCA1): c.2646_2648delTGC (p.Cys882Ter)deletionPathogenicrs80357513GRCh37Chr 17, 41244900: 41244902
1287BRCA1NM_007294.3(BRCA1): c.2670delG (p.Ser891Profs)deletionPathogenicrs80357659GRCh37Chr 17, 41244878: 41244878
1288BRCA1NM_007294.3(BRCA1): c.2675_2678delTAAA (p.Leu892Terfs)deletionPathogenicrs80357518GRCh37Chr 17, 41244870: 41244873
1289BRCA1NM_007294.3(BRCA1): c.2685_2686delAA (p.Pro897Lysfs)deletionPathogenicrs80357636GRCh37Chr 17, 41244862: 41244863
1290BRCA1NM_007294.3(BRCA1): c.269_281delTTTGTGCTTTTCA (p.Ile90Serfs)deletionPathogenicrs80359879GRCh37Chr 17, 41256905: 41256917
1291BRCA1NM_007294.3(BRCA1): c.2709delT (p.Cys903Trpfs)deletionPathogenicrs80357594GRCh37Chr 17, 41244839: 41244839
1292BRCA1NM_007294.3(BRCA1): c.2719_2722delGAAG (p.Glu907Lysfs)deletionPathogenicrs80357731GRCh37Chr 17, 41244826: 41244829
1293BRCA1NM_007294.3(BRCA1): c.2726delA (p.Asn909Ilefs)deletionPathogenicrs80357614GRCh37Chr 17, 41244822: 41244822
1294BRCA1NM_007294.3(BRCA1): c.2726dupA (p.Asn909Lysfs)duplicationPathogenicrs80357685GRCh37Chr 17, 41244821: 41244822
1295BRCA1NM_007294.3(BRCA1): c.2727_2730delTCAA (p.Asn909Lysfs)deletionPathogenicrs80357605GRCh37Chr 17, 41244818: 41244821
1296BRCA1NM_007294.3(BRCA1): c.2740G> T (p.Glu914Ter)single nucleotide variantPathogenicrs80357419GRCh37Chr 17, 41244808: 41244808
1297BRCA1NM_007294.3(BRCA1): c.2749dupA (p.Ile917Asnfs)duplicationPathogenicrs80357942GRCh37Chr 17, 41244798: 41244799
1298BRCA1NM_007294.3(BRCA1): c.2761C> T (p.Gln921Ter)single nucleotide variantPathogenicrs80357377GRCh37Chr 17, 41244787: 41244787
1299BRCA1NM_007294.3(BRCA1): c.2762delA (p.Gln921Argfs)deletionPathogenicrs80357703GRCh37Chr 17, 41244786: 41244786
1300BRCA1NM_007294.3(BRCA1): c.2764_2767delACAG (p.Thr922Leufs)deletionPathogenicrs80357822GRCh37Chr 17, 41244781: 41244784
1301BRCA1NM_007294.3(BRCA1): c.2766delA (p.Val923Leufs)deletionPathogenicrs80357812GRCh37Chr 17, 41244782: 41244782
1302BRCA1NM_007294.3(BRCA1): c.2767_2770delGTTA (p.Val923Ilefs)deletionPathogenicrs80357661GRCh37Chr 17, 41244778: 41244781
1303BRCA1NM_007294.3(BRCA1): c.2796_2799delTGGT (p.Gly933Argfs)deletionPathogenicrs80357840GRCh37Chr 17, 41244749: 41244752
1304BRCA1NM_007294.3(BRCA1): c.2800C> T (p.Gln934Ter)single nucleotide variantPathogenicrs80357223GRCh37Chr 17, 41244748: 41244748
1305BRCA1NM_007294.3(BRCA1): c.2805delA (p.Asp936Ilefs)deletionPathogenicrs397509012GRCh37Chr 17, 41244743: 41244743
1306BRCA1NM_007294.3(BRCA1): c.2812_2813delCCinsG (p.Pro938Glufs)indelPathogenicrs273899689GRCh37Chr 17, 41244735: 41244736
1307BRCA1NM_007294.3(BRCA1): c.2832T> A (p.Cys944Ter)single nucleotide variantPathogenicrs80357458GRCh37Chr 17, 41244716: 41244716
1308BRCA1NM_007294.3(BRCA1): c.2834_2836delGTAinsC (p.Ser945Thrfs)indelPathogenicrs386134270GRCh37Chr 17, 41244712: 41244714
1309BRCA1NM_007294.3(BRCA1): c.2835dupT (p.Ile946Tyrfs)duplicationPathogenicrs80357519GRCh37Chr 17, 41244712: 41244713
1310BRCA1NM_007294.3(BRCA1): c.2840_2841delAA (p.Lys947Argfs)deletionPathogenicrs80357984GRCh37Chr 17, 41244707: 41244708
1311BRCA1NM_007294.3(BRCA1): c.2866_2870delTCTCA (p.Ser956Valfs)deletionPathogenicrs80357961GRCh37Chr 17, 41244678: 41244682
1312BRCA1NM_007294.3(BRCA1): c.2869C> T (p.Gln957Ter)single nucleotide variantPathogenicrs80356973GRCh37Chr 17, 41244679: 41244679
1313BRCA1NM_007294.3(BRCA1): c.290_291delCA (p.Thr97Argfs)deletionPathogenicrs80357738GRCh37Chr 17, 41256895: 41256896
1314BRCA1NM_007294.3(BRCA1): c.2910delA (p.Lys970Asnfs)deletionPathogenicrs80357893GRCh37Chr 17, 41244638: 41244638
1315BRCA1NM_007294.3(BRCA1): c.2915delG (p.Gly972Aspfs)deletionPathogenicrs80357573GRCh37Chr 17, 41244633: 41244633
1316BRCA1NM_007294.3(BRCA1): c.2920_2921delTT (p.Leu974Thrfs)deletionPathogenicrs80357611GRCh37Chr 17, 41244627: 41244628
1317BRCA1NM_007294.3(BRCA1): c.2923C> T (p.Gln975Ter)single nucleotide variantPathogenicrs80357497GRCh37Chr 17, 41244625: 41244625
1318BRCA1NM_007294.3(BRCA1): c.2934delT (p.Arg979Valfs)deletionPathogenicrs80357741GRCh37Chr 17, 41244614: 41244614
1319BRCA1NM_007294.3(BRCA1): c.2952delT (p.Ile986Serfs)deletionPathogenicrs80357627GRCh37Chr 17, 41244596: 41244596
1320BRCA1NM_007294.3(BRCA1): c.2955delC (p.Ile986Serfs)deletionPathogenicrs397509027GRCh37Chr 17, 41244593: 41244593
1321BRCA1NM_007294.3(BRCA1): c.2980delT (p.Cys994Valfs)deletionPathogenicrs80357502GRCh37Chr 17, 41244568: 41244568
1322BRCA1NM_007294.3(BRCA1): c.2999delA (p.Glu1000Glyfs)deletionPathogenicrs80357991GRCh37Chr 17, 41244549: 41244549
1323BRCA1NM_007294.3(BRCA1): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs80357111GRCh37Chr 17, 41276112: 41276112
1324BRCA1NM_007294.3(BRCA1): c.2T> G (p.Met1Arg)single nucleotide variantPathogenicrs80357111GRCh37Chr 17, 41276112: 41276112
1325BRCA1NM_007294.3(BRCA1): c.3013delG (p.Glu1005Asnfs)deletionPathogenicrs80357937GRCh37Chr 17, 41244535: 41244535
1326BRCA1NM_007294.3(BRCA1): c.3018_3021delTTCA (p.His1006Glnfs)deletionPathogenicrs80357749GRCh37Chr 17, 41244527: 41244530
1327BRCA1NM_007294.3(BRCA1): c.302-1G> Asingle nucleotide variantPathogenicrs80358116GRCh37Chr 17, 41256279: 41256279
1328BRCA1NM_007294.3(BRCA1): c.3020C> G (p.Ser1007Ter)single nucleotide variantPathogenicrs80357168GRCh37Chr 17, 41244528: 41244528
1329BRCA1NM_007294.3(BRCA1): c.3026C> A (p.Ser1009Ter)single nucleotide variantPathogenicrs273899696GRCh37Chr 17, 41244522: 41244522
1330BRCA1NM_007294.3(BRCA1): c.303T> G (p.Tyr101Ter)single nucleotide variantPathogenicrs80356936GRCh37Chr 17, 41256277: 41256277
1331BRCA1NM_007294.3(BRCA1): c.3049G> T (p.Glu1017Ter)single nucleotide variantPathogenicrs80357004GRCh37Chr 17, 41244499: 41244499
1332BRCA1NM_007294.3(BRCA1): c.3084_3094delTAATAACATTA (p.Asn1029Argfs)deletionPathogenicrs80357647GRCh37Chr 17, 41244454: 41244464
1333BRCA1NM_007294.3(BRCA1): c.3097G> T (p.Glu1033Ter)single nucleotide variantPathogenicrs273899698GRCh37Chr 17, 41244451: 41244451
1334BRCA1NM_007294.3(BRCA1): c.3107_3112delTTAAAG (p.Phe1036Ter)deletionPathogenicrs80357920GRCh37Chr 17, 41244436: 41244441
1335BRCA1NM_007294.3(BRCA1): c.3108delT (p.Phe1036Leufs)deletionPathogenicrs80357841GRCh37Chr 17, 41244440: 41244440
1336BRCA1NM_007294.3(BRCA1): c.3178G> T (p.Glu1060Ter)single nucleotide variantPathogenicrs80357424GRCh37Chr 17, 41244370: 41244370
1337BRCA1NM_007294.3(BRCA1): c.317delA (p.Asn106Ilefs)deletionPathogenicrs80357950GRCh37Chr 17, 41256263: 41256263
1338BRCA1NM_007294.3(BRCA1): c.3181delA (p.Ile1061Terfs)deletionPathogenicrs80357702GRCh37Chr 17, 41244367: 41244367
1339BRCA1NM_007294.3(BRCA1): c.3188_3189delCCinsG (p.Ser1063Terfs)indelPathogenicrs273899701GRCh37Chr 17, 41244359: 41244360
1340BRCA1NM_007294.3(BRCA1): c.3193dupG (p.Asp1065Glyfs)duplicationPathogenicrs80357511GRCh37Chr 17, 41244354: 41244355
1341BRCA1NM_007294.3(BRCA1): c.321delT (p.Phe107Leufs)deletionPathogenicrs80357544GRCh37Chr 17, 41256259: 41256259
1342BRCA1NM_007294.3(BRCA1): c.3226delA (p.Arg1076Glufs)deletionPathogenicrs273899703GRCh37Chr 17, 41244322: 41244322
1343BRCA1NM_007294.3(BRCA1): c.3239T> A (p.Leu1080Ter)single nucleotide variantPathogenicrs80357145GRCh37Chr 17, 41244309: 41244309
1344BRCA1NM_007294.3(BRCA1): c.3253dupA (p.Arg1085Lysfs)duplicationPathogenicrs80357517GRCh37Chr 17, 41244294: 41244295
1345BRCA1NM_007294.3(BRCA1): c.3255dupA (p.Leu1086Ilefs)duplicationPathogenicrs80357624GRCh37Chr 17, 41244292: 41244293
1346BRCA1NM_007294.3(BRCA1): c.3257T> A (p.Leu1086Ter)single nucleotide variantPathogenicrs80357006GRCh37Chr 17, 41244291: 41244291
1347BRCA1NM_007294.3(BRCA1): c.3257dupT (p.Leu1086Phefs)duplicationPathogenicrs80357858GRCh37Chr 17, 41244290: 41244291
1348BRCA1NM_007294.3(BRCA1): c.3268C> T (p.Gln1090Ter)single nucleotide variantPathogenicrs80357402GRCh37Chr 17, 41244280: 41244280
1349BRCA1NM_007294.3(BRCA1): c.3279delC (p.Tyr1094Ilefs)deletionPathogenicrs397509050GRCh37Chr 17, 41244269: 41244269
1350BRCA1NM_007294.3(BRCA1): c.3286C> T (p.Gln1096Ter)single nucleotide variantPathogenicrs80357485GRCh37Chr 17, 41244262: 41244262
1351BRCA1NM_007294.3(BRCA1): c.3286delC (p.Gln1096Lysfs)deletionPathogenicrs80357533GRCh37Chr 17, 41244262: 41244262
1352BRCA1NM_007294.3(BRCA1): c.3288_3289delAA (p.Leu1098Serfs)deletionPathogenicrs80357686GRCh37Chr 17, 41244259: 41244260
1353BRCA1NM_007294.3(BRCA1): c.3292_3293delCT (p.Leu1098Serfs)deletionPathogenicrs80357992GRCh37Chr 17, 41244255: 41244256
1354BRCA1NM_007294.3(BRCA1): c.3296delC (p.Pro1099Leufs)deletionPathogenicrs80357815GRCh37Chr 17, 41244252: 41244252
1355BRCA1NM_007294.3(BRCA1): c.329_330delAG (p.Lys110Argfs)deletionPathogenicrs80357754GRCh37Chr 17, 41256250: 41256251
1356BRCA1NM_007294.3(BRCA1): c.329dupA (p.Glu111Glyfs)duplicationPathogenicrs80357604GRCh37Chr 17, 41256250: 41256251
1357BRCA1NM_007294.3(BRCA1): c.32_33insC (p.Gln12Thrfs)insertionPathogenicrs80357811GRCh37Chr 17, 41276081: 41276082
1358BRCA1NM_007294.3(BRCA1): c.3309T> A (p.Cys1103Ter)single nucleotide variantPathogenicrs80357317GRCh37Chr 17, 41244239: 41244239
1359BRCA1NM_007294.3(BRCA1): c.3319G> T (p.Glu1107Ter)single nucleotide variantPathogenicrs80357106GRCh37Chr 17, 41244229: 41244229
1360BRCA1NM_007294.3(BRCA1): c.3325_3329delAAAAA (p.Lys1109Alafs)deletionPathogenicrs80357680GRCh37Chr 17, 41244219: 41244223
1361BRCA1NM_007294.3(BRCA1): c.3326_3329delAAAA (p.Lys1109Serfs)deletionPathogenicrs80357575GRCh37Chr 17, 41244219: 41244222
1362BRCA1NM_007294.3(BRCA1): c.3329_3330delAG (p.Lys1110Thrfs)deletionPathogenicrs80357525GRCh37Chr 17, 41244218: 41244219
1363BRCA1NM_007294.3(BRCA1): c.3329dupA (p.Gln1111Alafs)duplicationPathogenicrs80357692GRCh37Chr 17, 41244218: 41244219
1364BRCA1NM_007294.3(BRCA1): c.3331C> T (p.Gln1111Ter)single nucleotide variantPathogenicrs80357089GRCh37Chr 17, 41244217: 41244217
1365BRCA1NM_007294.3(BRCA1): c.3333delA (p.Glu1112Asnfs)deletionPathogenicrs80357966GRCh37Chr 17, 41244215: 41244215
1366BRCA1NM_007294.3(BRCA1): c.3339T> G (p.Tyr1113Ter)single nucleotide variantPathogenicrs80357421GRCh37Chr 17, 41244209: 41244209
1367BRCA1NM_007294.3(BRCA1): c.3340G> T (p.Glu1114Ter)single nucleotide variantPathogenicrs80357278GRCh37Chr 17, 41244208: 41244208
1368BRCA1NM_007294.3(BRCA1): c.3342_3345delAGAA (p.Glu1115Terfs)deletionPathogenicrs397509058GRCh37Chr 17, 41244203: 41244206
1369BRCA1NM_007294.3(BRCA1): c.3343delG (p.Glu1115Lysfs)deletionPathogenicrs273899705GRCh37Chr 17, 41244205: 41244205
1370BRCA1NM_007294.3(BRCA1): c.3359_3360delTT (p.Val1120Glufs)deletionPathogenicrs80357843GRCh37Chr 17, 41244188: 41244189
1371BRCA1NM_007294.3(BRCA1): c.3362delA (p.Asn1121Ilefs)deletionPathogenicrs80357865GRCh37Chr 17, 41244186: 41244186
1372BRCA1NM_007294.3(BRCA1): c.3365_3366delCA (p.Thr1122Argfs)deletionPathogenicrs80357892GRCh37Chr 17, 41244182: 41244183
1373BRCA1NM_007294.3(BRCA1): c.3375_3376delTC (p.Pro1126Ilefs)deletionPathogenicrs80357828GRCh37Chr 17, 41244172: 41244173
1374BRCA1NM_007294.3(BRCA1): c.3390delA (p.Asp1131Ilefs)deletionPathogenicrs80357900GRCh37Chr 17, 41244158: 41244158
1375BRCA1NM_007294.3(BRCA1): c.3397_3398delTT (p.Leu1133Argfs)deletionPathogenicrs80357577GRCh37Chr 17, 41244150: 41244151
1376BRCA1NM_007294.3(BRCA1): c.3398T> A (p.Leu1133Ter)single nucleotide variantPathogenicrs80356971GRCh37Chr 17, 41244150: 41244150
1377BRCA1NM_007294.3(BRCA1): c.3403C> T (p.Gln1135Ter)single nucleotide variantPathogenicrs80357136GRCh37Chr 17, 41244145: 41244145
1378BRCA1NM_007294.3(BRCA1): c.3417delT (p.Ser1139Argfs)deletionPathogenicrs273899706GRCh37Chr 17, 41244131: 41244131
1379BRCA1NM_007294.3(BRCA1): c.3424G> C (p.Ala1142Pro)single nucleotide variantPathogenicrs80357101GRCh37Chr 17, 41244124: 41244124
1380BRCA1NM_007294.3(BRCA1): c.342_343delTC (p.Pro115Terfs)deletionPathogenicrs80357881GRCh37Chr 17, 41256237: 41256238
1381BRCA1NM_007294.3(BRCA1): c.3430C> T (p.Gln1144Ter)single nucleotide variantPathogenicrs80357369GRCh37Chr 17, 41244118: 41244118
1382BRCA1NM_007294.3(BRCA1): c.3436_3439delTGTT (p.Cys1146Leufs)deletionPathogenicrs397509067GRCh37Chr 17, 41244109: 41244112
1383BRCA1NM_007294.3(BRCA1): c.3477_3479delAAAinsC (p.Lys1160Glyfs)indelPathogenicrs273899707GRCh37Chr 17, 41244069: 41244071
1384BRCA1NM_007294.3(BRCA1): c.3477_3480delAAAG (p.Ile1159Metfs)deletionPathogenicrs80357781GRCh37Chr 17, 41244068: 41244071
1385BRCA1NM_007294.3(BRCA1): c.34C> T (p.Gln12Ter)single nucleotide variantPathogenicrs80357134GRCh37Chr 17, 41276080: 41276080
1386BRCA1NM_007294.3(BRCA1): c.3531delT (p.Phe1177Leufs)deletionPathogenicrs80357621GRCh37Chr 17, 41244017: 41244017
1387BRCA1NM_007294.3(BRCA1): c.3544C> T (p.Gln1182Ter)single nucleotide variantPathogenicrs80357296GRCh37Chr 17, 41244004: 41244004
1388BRCA1NM_007294.3(BRCA1): c.3549_3550delAGinsT (p.Lys1183Asnfs)indelPathogenicrs273899709GRCh37Chr 17, 41243998: 41243999
1389BRCA1NM_007294.3(BRCA1): c.3569_3570delCT (p.Pro1190Glnfs)deletionPathogenicrs80357845GRCh37Chr 17, 41243978: 41243979
1390BRCA1NM_007294.3(BRCA1): c.3580delA (p.Thr1194Profs)deletionPathogenicrs80357663GRCh37Chr 17, 41243968: 41243968
1391BRCA1NM_007294.3(BRCA1): c.3586dupA (p.Thr1196Asnfs)duplicationPathogenicrs80357531GRCh37Chr 17, 41243961: 41243962
1392BRCA1NM_007294.3(BRCA1): c.3619A> T (p.Lys1207Ter)single nucleotide variantPathogenicrs80357455GRCh37Chr 17, 41243929: 41243929
1393BRCA1NM_007294.3(BRCA1): c.3626delT (p.Leu1209Terfs)deletionPathogenicrs80357571GRCh37Chr 17, 41243922: 41243922
1394BRCA1NM_007294.3(BRCA1): c.3629_3630delAG (p.Glu1210Valfs)deletionPathogenicrs80357589GRCh37Chr 17, 41243918: 41243919
1395BRCA1NM_007294.3(BRCA1): c.3640G> T (p.Glu1214Ter)single nucleotide variantPathogenicrs80356923GRCh37Chr 17, 41243908: 41243908
1396BRCA1NM_007294.3(BRCA1): c.3642_3643delGA (p.Asn1215Leufs)deletionPathogenicrs80357805GRCh37Chr 17, 41243905: 41243906
1397BRCA1NM_007294.3(BRCA1): c.3661G> T (p.Glu1221Ter)single nucleotide variantPathogenicrs80357310GRCh37Chr 17, 41243887: 41243887
1398BRCA1NM_007294.3(BRCA1): c.3676_3679delTTCC (p.Phe1226Asnfs)deletionPathogenicrs80357671GRCh37Chr 17, 41243869: 41243872
1399BRCA1NM_007294.3(BRCA1): c.3699delA (p.Val1234Terfs)deletionPathogenicrs80357873GRCh37Chr 17, 41243849: 41243849
1400BRCA1NM_007294.3(BRCA1): c.3706_3707delAA (p.Asn1236Tyrfs)deletionPathogenicrs80357666GRCh37Chr 17, 41243841: 41243842
1401BRCA1NM_007294.3(BRCA1): c.3706_3713delAATATACC (p.Asn1236Phefs)deletionPathogenicrs80357552GRCh37Chr 17, 41243835: 41243842
1402BRCA1NM_007294.3(BRCA1): c.3715_3717delTCTinsC (p.Ser1239Profs)indelPathogenicrs273900714GRCh37Chr 17, 41243831: 41243833
1403BRCA1NM_007294.3(BRCA1): c.3718C> T (p.Gln1240Ter)single nucleotide variantPathogenicrs80356903GRCh37Chr 17, 41243830: 41243830
1404BRCA1NM_007294.3(BRCA1): c.3722_3740del19 (p.Ser1241Leufs)deletionPathogenicrs80359882GRCh37Chr 17, 41243808: 41243826
1405BRCA1NM_007294.3(BRCA1): c.3736delA (p.Thr1246Profs)deletionPathogenicrs80357578GRCh37Chr 17, 41243812: 41243812
1406BRCA1NM_007294.3(BRCA1): c.3759dupT (p.Lys1254Terfs)duplicationPathogenicrs80357687GRCh37Chr 17, 41243788: 41243789
1407BRCA1NM_007294.3(BRCA1): c.3760_3761insT (p.Lys1254Ilefs)insertionPathogenicrs80357986GRCh37Chr 17, 41243787: 41243788
1408BRCA1NM_007294.3(BRCA1): c.3782delT (p.Leu1261Tyrfs)deletionPathogenicrs80357545GRCh37Chr 17, 41243766: 41243766
1409BRCA1NM_007294.3(BRCA1): c.3785C> A (p.Ser1262Ter)single nucleotide variantPathogenicrs80357269GRCh37Chr 17, 41243763: 41243763
1410BRCA1NM_007294.3(BRCA1): c.3794delA (p.Asn1265Ilefs)deletionPathogenicrs80357767GRCh37Chr 17, 41243754: 41243754
1411BRCA1NM_007294.3(BRCA1): c.37_40delAATG (p.Asn13Serfs)deletionPathogenicrs80357530GRCh37Chr 17, 41276074: 41276077
1412BRCA1NM_007294.3(BRCA1): c.3817C> T (p.Gln1273Ter)single nucleotide variantPathogenicrs80357208GRCh37Chr 17, 41243731: 41243731
1413BRCA1NM_007294.3(BRCA1): c.3820dupG (p.Val1274Glyfs)duplicationPathogenicrs80357616GRCh37Chr 17, 41243727: 41243728
1414BRCA1NM_007294.3(BRCA1): c.3839_3843delCTCAGinsAGGC (p.Ser1280Terfs)indelPathogenicrs273900717GRCh37Chr 17, 41243705: 41243709
1415BRCA1NM_007294.3(BRCA1): c.3841C> T (p.Gln1281Ter)single nucleotide variantPathogenicrs80356866GRCh37Chr 17, 41243707: 41243707
1416BRCA1NM_007294.3(BRCA1): c.3841_3842delCA (p.Gln1281Glyfs)deletionPathogenicrs80357584GRCh37Chr 17, 41243706: 41243707
1417BRCA1NM_007294.3(BRCA1): c.3856delA (p.Ser1286Valfs)deletionPathogenicrs80357855GRCh37Chr 17, 41243692: 41243692
1418BRCA1NM_007294.3(BRCA1): c.3862delG (p.Glu1288Lysfs)deletionPathogenicrs273900718GRCh37Chr 17, 41243686: 41243686
1419BRCA1NM_007294.3(BRCA1): c.3869_3870delAA (p.Lys1290Metfs)deletionPathogenicrs80357918GRCh37Chr 17, 41243678: 41243679
1420BRCA1NM_007294.3(BRCA1): c.3893C> A (p.Ser1298Ter)single nucleotide variantPathogenicrs80357440GRCh37Chr 17, 41243655: 41243655
1421BRCA1NM_007294.3(BRCA1): c.3901_3902delAG (p.Ser1301Terfs)deletionPathogenicrs80357646GRCh37Chr 17, 41243646: 41243647
1422BRCA1NM_007294.3(BRCA1): c.3904G> T (p.Glu1302Ter)single nucleotide variantPathogenicrs80357461GRCh37Chr 17, 41243644: 41243644
1423BRCA1NM_007294.3(BRCA1): c.3916_3917delTT (p.Leu1306Aspfs)deletionPathogenicrs80357678GRCh37Chr 17, 41243631: 41243632
1424BRCA1NM_007294.3(BRCA1): c.391A> T (p.Arg131Ter)single nucleotide variantPathogenicrs80357207GRCh37Chr 17, 41256189: 41256189
1425BRCA1NM_007294.3(BRCA1): c.3931_3934delAACA (p.Asn1311Profs)deletionPathogenicrs80357864GRCh37Chr 17, 41243614: 41243617
1426BRCA1NM_007294.3(BRCA1): c.3932delA (p.Asn1311Thrfs)deletionPathogenicrs80357504GRCh37Chr 17, 41243616: 41243616
1427BRCA1NM_007294.3(BRCA1): c.3964A> T (p.Lys1322Ter)single nucleotide variantPathogenicrs80357343GRCh37Chr 17, 41243584: 41243584
1428BRCA1NM_007294.3(BRCA1): c.3966delA (p.Lys1322Asnfs)deletionPathogenicrs80357979GRCh37Chr 17, 41243582: 41243582
1429BRCA1NM_007294.3(BRCA1): c.3967C> T (p.Gln1323Ter)single nucleotide variantPathogenicrs80357262GRCh37Chr 17, 41243581: 41243581
1430BRCA1NM_007294.3(BRCA1): c.3972delG (p.Met1324Ilefs)deletionPathogenicrs80357987GRCh37Chr 17, 41243576: 41243576
1431BRCA1NM_007294.3(BRCA1): c.3973delA (p.Arg1325Glyfs)deletionPathogenicrs80357904GRCh37Chr 17, 41243575: 41243575
1432BRCA1NM_007294.3(BRCA1): c.4037_4038delAA (p.Gly1348Asnfs)deletionPathogenicrs273900721GRCh37Chr 17, 41243510: 41243511
1433BRCA1NM_007294.3(BRCA1): c.4052T> A (p.Leu1351Ter)single nucleotide variantPathogenicrs397509132GRCh37Chr 17, 41243496: 41243496
1434BRCA1NM_007294.3(BRCA1): c.4052dupT (p.Leu1351Phefs)duplicationPathogenicrs80357779GRCh37Chr 17, 41243495: 41243496
1435BRCA1NM_007294.3(BRCA1): c.4057G> T (p.Glu1353Ter)single nucleotide variantPathogenicrs80357178GRCh37Chr 17, 41243491: 41243491
1436BRCA1NM_007294.3(BRCA1): c.406dupA (p.Arg136Lysfs)duplicationPathogenicrs80357709GRCh37Chr 17, 41256173: 41256174
1437BRCA1NM_007294.3(BRCA1): c.4075C> T (p.Gln1359Ter)single nucleotide variantPathogenicrs80357456GRCh37Chr 17, 41243473: 41243473
1438BRCA1NM_007294.3(BRCA1): c.4085delA (p.Asp1362Valfs)deletionPathogenicrs80357737GRCh37Chr 17, 41243463: 41243463
1439BRCA1NM_007294.3(BRCA1): c.4097-2A> Gsingle nucleotide variantPathogenicrs80358019GRCh37Chr 17, 41243051: 41243051
1440BRCA1NM_007294.3(BRCA1): c.4122_4123delTG (p.Ser1374Argfs)deletionPathogenicrs80357691GRCh37Chr 17, 41243023: 41243024
1441BRCA1NM_007294.3(BRCA1): c.4123G> T (p.Glu1375Ter)single nucleotide variantPathogenicrs80357397GRCh37Chr 17, 41243023: 41243023
1442BRCA1NM_007294.3(BRCA1): c.412_418delCTACAGA (p.Leu138Valfs)deletionPathogenicrs80357816GRCh37Chr 17, 41256162: 41256168
1443BRCA1NM_007294.3(BRCA1): c.415C> T (p.Gln139Ter)single nucleotide variantPathogenicrs80357372GRCh37Chr 17, 41256165: 41256165
1444BRCA1NM_007294.3(BRCA1): c.4161_4162delTC (p.Gln1388Glufs)deletionPathogenicrs80357565GRCh37Chr 17, 41242984: 41242985
1445BRCA1NM_007294.3(BRCA1): c.4163_4166delAGAG (p.Gln1388Leufs)deletionPathogenicrs80357532GRCh37Chr 17, 41242980: 41242983
1446BRCA1NM_007294.3(BRCA1): c.4165_4166delAG (p.Ser1389Terfs)deletionPathogenicrs80357572GRCh37Chr 17, 41242980: 41242981
1447BRCA1NM_007294.3(BRCA1): c.4167_4170delTGAC (p.Ser1389Argfs)deletionPathogenicrs80357538GRCh37Chr 17, 41242976: 41242979
1448BRCA1NM_007294.3(BRCA1): c.4183C> T (p.Gln1395Ter)single nucleotide variantPathogenicrs80357260GRCh37Chr 17, 41242963: 41242963
1449BRCA1NM_007294.3(BRCA1): c.4185+1G> Tsingle nucleotide variantPathogenicrs80358076GRCh37Chr 17, 41242960: 41242960
1450BRCA1NM_007294.3(BRCA1): c.4185G> A (p.Gln1395=)single nucleotide variantPathogenicrs80356857GRCh37Chr 17, 41242961: 41242961
1451BRCA1NM_007294.3(BRCA1): c.4186C> T (p.Gln1396Ter)single nucleotide variantPathogenicrs80357011GRCh37Chr 17, 41234592: 41234592
1452BRCA1NM_007294.3(BRCA1): c.4195_4196delAC (p.Thr1399Hisfs)deletionPathogenicrs80357649GRCh37Chr 17, 41234582: 41234583
1453BRCA1NM_007294.3(BRCA1): c.4201C> T (p.Gln1401Ter)single nucleotide variantPathogenicrs397509151GRCh37Chr 17, 41234577: 41234577
1454BRCA1NM_007294.3(BRCA1): c.4210delC (p.Leu1404Terfs)deletionPathogenicrs80357765GRCh37Chr 17, 41234568: 41234568
1455BRCA1NM_007294.3(BRCA1): c.4258C> T (p.Gln1420Ter)single nucleotide variantPathogenicrs80357305GRCh37Chr 17, 41234520: 41234520
1456BRCA1NM_007294.3(BRCA1): c.4300dupA (p.Ser1434Lysfs)duplicationPathogenicrs80357790GRCh37Chr 17, 41234477: 41234478
1457BRCA1NM_007294.3(BRCA1): c.4321dupG (p.Asp1441Glyfs)duplicationPathogenicrs80357748GRCh37Chr 17, 41234456: 41234457
1458BRCA1NM_007294.3(BRCA1): c.4331_4338delATCCAGAA (p.Asn1444Thrfs)deletionPathogenicrs80357825GRCh37Chr 17, 41234440: 41234447
1459BRCA1NM_007294.3(BRCA1): c.4339C> T (p.Gln1447Ter)single nucleotide variantPathogenicrs80357067GRCh37Chr 17, 41234439: 41234439
1460BRCA1NM_007294.3(BRCA1): c.4357+1G> Csingle nucleotide variantPathogenicrs80358027GRCh37Chr 17, 41234420: 41234420
1461BRCA1NM_007294.3(BRCA1): c.4357+1G> Tsingle nucleotide variantPathogenicrs80358027GRCh37Chr 17, 41234420: 41234420
1462BRCA1NM_007294.3(BRCA1): c.4357+2T> Csingle nucleotide variantPathogenicrs80358152GRCh37Chr 17, 41234419: 41234419
1463BRCA1NM_007294.3(BRCA1): c.4370C> G (p.Ser1457Ter)single nucleotide variantPathogenicrs80357130GRCh37Chr 17, 41228619: 41228619
1464BRCA1NM_007294.3(BRCA1): c.4389C> A (p.Tyr1463Ter)single nucleotide variantPathogenicrs80356997GRCh37Chr 17, 41228600: 41228600
1465BRCA1NM_007294.3(BRCA1): c.4391_4403delCTATAAGCCAGAAinsTT (p.Pro1464Leufs)indelPathogenicrs273900731GRCh37Chr 17, 41228586: 41228598
1466BRCA1NM_007294.3(BRCA1): c.4480G> T (p.Glu1494Ter)single nucleotide variantPathogenicrs80357148GRCh37Chr 17, 41228509: 41228509
1467BRCA1NM_007294.3(BRCA1): c.4485-1G> Asingle nucleotide variantPathogenicrs80358189GRCh37Chr 17, 41226539: 41226539
1468BRCA1NM_007294.3(BRCA1): c.4487C> A (p.Ser1496Ter)single nucleotide variantPathogenicrs80356953GRCh37Chr 17, 41226536: 41226536
1469BRCA1NM_007294.3(BRCA1): c.4487C> G (p.Ser1496Ter)single nucleotide variantPathogenicrs80356953GRCh37Chr 17, 41226536: 41226536
1470BRCA1NM_007294.3(BRCA1): c.4516delG (p.Asp1506Ilefs)deletionPathogenicrs273900736GRCh37Chr 17, 41226507: 41226507
1471BRCA1NM_007294.3(BRCA1): c.4533_4534delCA (p.His1511Glnfs)deletionPathogenicrs80357534GRCh37Chr 17, 41226489: 41226490
1472BRCA1NM_007294.3(BRCA1): c.4552C> T (p.Gln1518Ter)single nucleotide variantPathogenicrs80356881GRCh37Chr 17, 41226471: 41226471
1473BRCA1NM_007294.3(BRCA1): c.4574_4575delAA (p.Gln1525Argfs)deletionPathogenicrs80357813GRCh37Chr 17, 41226448: 41226449
1474BRCA1NM_007294.3(BRCA1): c.4595_4596insCT (p.Asp1533Leufs)insertionPathogenicrs80357699GRCh37Chr 17, 41226427: 41226428
1475BRCA1NM_007294.3(BRCA1): c.4603G> T (p.Glu1535Ter)single nucleotide variantPathogenicrs80357366GRCh37Chr 17, 41226420: 41226420
1476BRCA1NM_007294.3(BRCA1): c.4609C> T (p.Gln1537Ter)single nucleotide variantPathogenicrs80357229GRCh37Chr 17, 41226414: 41226414
1477BRCA1NM_007294.3(BRCA1): c.4612C> T (p.Gln1538Ter)single nucleotide variantPathogenicrs80356992GRCh37Chr 17, 41226411: 41226411
1478BRCA1NM_007294.3(BRCA1): c.4618G> T (p.Glu1540Ter)single nucleotide variantPathogenicrs80357277GRCh37Chr 17, 41226405: 41226405
1479BRCA1NM_007294.3(BRCA1): c.4621G> T (p.Glu1541Ter)single nucleotide variantPathogenicrs80357248GRCh37Chr 17, 41226402: 41226402
1480BRCA1NM_007294.3(BRCA1): c.4625_4626delCT (p.Ser1542Trpfs)deletionPathogenicrs80357542GRCh37Chr 17, 41226397: 41226398
1481BRCA1NM_007294.3(BRCA1): c.4712_4716delTCTCT (p.Phe1571Terfs)deletionPathogenicrs80357718GRCh37Chr 17, 41223215: 41223219
1482BRCA1NM_007294.3(BRCA1): c.4745delA (p.Asp1582Alafs)deletionPathogenicrs80357907GRCh37Chr 17, 41223186: 41223186
1483BRCA1NM_007294.3(BRCA1): c.4754_4755delCA (p.Pro1585Argfs)deletionPathogenicrs80357837GRCh37Chr 17, 41223176: 41223177
1484BRCA1NM_007294.3(BRCA1): c.4801A> T (p.Lys1601Ter)single nucleotide variantPathogenicrs80357303GRCh37Chr 17, 41223130: 41223130
1485BRCA1NM_007294.3(BRCA1): c.4810C> T (p.Gln1604Ter)single nucleotide variantPathogenicrs80357352GRCh37Chr 17, 41223121: 41223121
1486BRCA1NM_007294.3(BRCA1): c.485_486delTG (p.Val162Glufs)deletionPathogenicrs80357708GRCh37Chr 17, 41251853: 41251854
1487BRCA1NM_007294.3(BRCA1): c.493delC (p.Leu165Terfs)deletionPathogenicrs80357551GRCh37Chr 17, 41251846: 41251846
1488BRCA1NM_007294.3(BRCA1): c.4941delC (p.Asn1647Lysfs)deletionPathogenicrs80357905GRCh37Chr 17, 41222990: 41222990
1489BRCA1NM_007294.3(BRCA1): c.494dupT (p.Arg166Glufs)duplicationPathogenicrs80357762GRCh37Chr 17, 41251844: 41251845
1490BRCA1NM_007294.3(BRCA1): c.4981G> T (p.Glu1661Ter)single nucleotide variantPathogenicrs80357401GRCh37Chr 17, 41222950: 41222950
1491BRCA1NM_007294.3(BRCA1): c.4986+3G> Csingle nucleotide variantPathogenicrs80358023GRCh37Chr 17, 41222942: 41222942
1492BRCA1NM_007294.3(BRCA1): c.4986+4A> Tsingle nucleotide variantPathogenicrs80358087GRCh37Chr 17, 41222941: 41222941
1493BRCA1NM_007294.3(BRCA1): c.4999A> T (p.Lys1667Ter)single nucleotide variantPathogenicrs80357204GRCh37Chr 17, 41219700: 41219700
1494BRCA1NM_007294.3(BRCA1): c.5005delG (p.Ala1669Profs)deletionPathogenicrs80357938GRCh37Chr 17, 41219694: 41219694
1495BRCA1NM_007294.3(BRCA1): c.5026_5036delTTAACTAATCT (p.Leu1676Asnfs)deletionPathogenicrs80357894GRCh37Chr 17, 41219663: 41219673
1496BRCA1NM_007294.3(BRCA1): c.5035delC (p.Leu1679Terfs)deletionPathogenicrs80357896GRCh37Chr 17, 41219664: 41219664
1497BRCA1NM_007294.3(BRCA1): c.5040delT (p.Thr1681Leufs)deletionPathogenicrs80357673GRCh37Chr 17, 41219659: 41219659
1498BRCA1NM_007294.3(BRCA1): c.5047G> T (p.Glu1683Ter)single nucleotide variantPathogenicrs80356879GRCh37Chr 17, 41219652: 41219652
1499BRCA1NM_007294.3(BRCA1): c.505C> T (p.Gln169Ter)single nucleotide variantPathogenicrs80357133GRCh37Chr 17, 41251834: 41251834
1500BRCA1NM_007294.3(BRCA1): c.5071dupA (p.Thr1691Asnfs)duplicationPathogenicrs80357672GRCh37Chr 17, 41219627: 41219628
1501BRCA1NM_007294.3(BRCA1): c.5074G> T (p.Asp1692Tyr)single nucleotide variantPathogenicrs80187739GRCh37Chr 17, 41219625: 41219625
1502BRCA1NM_007294.3(BRCA1): c.5075-1G> Asingle nucleotide variantPathogenicrs1800747GRCh37Chr 17, 41215969: 41215969
1503BRCA1NM_007294.3(BRCA1): c.5075-2A> Csingle nucleotide variantPathogenicrs80358066GRCh37Chr 17, 41215970: 41215970
1504BRCA1NM_007294.3(BRCA1): c.5075-2A> Tsingle nucleotide variantPathogenicrs80358066GRCh37Chr 17, 41215970: 41215970
1505BRCA1NM_007294.3(BRCA1): c.5080G> T (p.Glu1694Ter)single nucleotide variantPathogenicrs80356896GRCh37Chr 17, 41215963: 41215963
1506BRCA1NM_007294.3(BRCA1): c.5084_5085delTT (p.Phe1695Cysfs)deletionPathogenicrs80357760GRCh37Chr 17, 41215958: 41215959
1507BRCA1NM_007294.3(BRCA1): c.5091_5092delTG (p.Cys1697Terfs)deletionPathogenicrs80357710GRCh37Chr 17, 41215951: 41215952
1508BRCA1NM_007294.3(BRCA1): c.5102_5103delTG (p.Leu1701Glnfs)deletionPathogenicrs80357608GRCh37Chr 17, 41215940: 41215941
1509BRCA1NM_007294.3(BRCA1): c.5106delA (p.Lys1702Asnfs)deletionPathogenicrs80357553GRCh37Chr 17, 41215937: 41215937
1510BRCA1NM_007294.3(BRCA1): c.5109T> G (p.Tyr1703Ter)single nucleotide variantPathogenicrs80356974GRCh37Chr 17, 41215934: 41215934
1511BRCA1NM_007294.3(BRCA1): c.5126delG (p.Gly1709Glufs)deletionPathogenicrs80357874GRCh37Chr 17, 41215917: 41215917
1512BRCA1NM_007294.3(BRCA1): c.514C> T (p.Gln172Ter)single nucleotide variantPathogenicrs80356947GRCh37Chr 17, 41251825: 41251825
1513BRCA1NM_007294.3(BRCA1): c.5150delT (p.Phe1717Serfs)deletionPathogenicrs80357720GRCh37Chr 17, 41215893: 41215893
1514BRCA1NM_007294.3(BRCA1): c.5152+1G> Tsingle nucleotide variantPathogenicrs80358094GRCh37Chr 17, 41215890: 41215890
1515BRCA1NM_007294.3(BRCA1): c.5152+2dupTduplicationLikely pathogenicrs397509231GRCh37Chr 17, 41215888: 41215889
1516BRCA1NM_007294.3(BRCA1): c.5152+3A> Csingle nucleotide variantPathogenicrs80358124GRCh37Chr 17, 41215888: 41215888
1517BRCA1NM_007294.3(BRCA1): c.5152+5G> Asingle nucleotide variantLikely pathogenicrs80358165GRCh37Chr 17, 41215886: 41215886
1518BRCA1NM_007294.3(BRCA1): c.5153-1G> Asingle nucleotide variantPathogenicrs80358137GRCh37Chr 17, 41215391: 41215391
1519BRCA1NM_007294.3(BRCA1): c.5154G> A (p.Trp1718Ter)single nucleotide variantPathogenicrs80357239GRCh37Chr 17, 41215389: 41215389
1520BRCA1NM_007294.3(BRCA1): c.5155delG (p.Val1719Terfs)deletionPathogenicrs80357743GRCh37Chr 17, 41215388: 41215388
1521BRCA1NM_007294.3(BRCA1): c.5156_5157delTG (p.Val1719Aspfs)deletionPathogenicrs80357895GRCh37Chr 17, 41215386: 41215387
1522BRCA1NM_007294.3(BRCA1): c.5165C> T (p.Ser1722Phe)single nucleotide variantPathogenicrs80357104GRCh37Chr 17, 41215378: 41215378
1523BRCA1NM_007294.3(BRCA1): c.5173G> T (p.Glu1725Ter)single nucleotide variantPathogenicrs80357291GRCh37Chr 17, 41215370: 41215370
1524BRCA1NM_007294.3(BRCA1): c.5177_5178delGA (p.Arg1726Lysfs)deletionPathogenicrs80357730GRCh37Chr 17, 41215365: 41215366
1525BRCA1NM_007294.3(BRCA1): c.5193+2delTdeletionPathogenicrs273901751GRCh37Chr 17, 41215348: 41215348
1526BRCA1NM_007294.3(BRCA1): c.5209A> T (p.Arg1737Ter)single nucleotide variantPathogenicrs80357496GRCh37Chr 17, 41209137: 41209137
1527BRCA1NM_007294.3(BRCA1): c.5209_5248del40insTC (p.Arg1737Serfs)indelPathogenicrs273901753GRCh37Chr 17, 41209098: 41209137
1528BRCA1NM_007294.3(BRCA1): c.520delC (p.Gln174Lysfs)deletionPathogenicrs80357639GRCh37Chr 17, 41251819: 41251819
1529BRCA1NM_007294.3(BRCA1): c.5213G> A (p.Gly1738Glu)single nucleotide variantLikely pathogenicrs80357450GRCh37Chr 17, 41209133: 41209133
1530BRCA1NM_007294.3(BRCA1): c.5229_5230delAA (p.Arg1744Lysfs)deletionPathogenicrs80357852GRCh37Chr 17, 41209116: 41209117
1531BRCA1NM_007294.3(BRCA1): c.5239C> T (p.Gln1747Ter)single nucleotide variantPathogenicrs80357367GRCh37Chr 17, 41209107: 41209107
1532BRCA1NM_007294.3(BRCA1): c.5243delG (p.Gly1748Valfs)deletionPathogenicrs80357676GRCh37Chr 17, 41209103: 41209103
1533BRCA1NM_007294.3(BRCA1): c.5251C> T (p.Arg1751Ter)single nucleotide variantPathogenicrs80357123GRCh37Chr 17, 41209095: 41209095
1534BRCA1NM_007294.3(BRCA1): c.5260G> T (p.Glu1754Ter)single nucleotide variantPathogenicrs80357432GRCh37Chr 17, 41209086: 41209086
1535BRCA1NM_007294.3(BRCA1): c.5274delA (p.Lys1759Argfs)deletionPathogenicrs80357732GRCh37Chr 17, 41209072: 41209072
1536BRCA1NM_007294.3(BRCA1): c.5277G> A (p.Lys1759=)single nucleotide variantPathogenicrs80356854GRCh37Chr 17, 41209069: 41209069
1537BRCA1NM_007294.3(BRCA1): c.5278-1G> Asingle nucleotide variantPathogenicrs80358099GRCh37Chr 17, 41203135: 41203135
1538BRCA1NM_007294.3(BRCA1): c.5278-1G> Tsingle nucleotide variantPathogenicrs80358099GRCh37Chr 17, 41203135: 41203135
1539BRCA1NM_007294.3(BRCA1): c.5284delA (p.Arg1762Glyfs)deletionPathogenicrs80357684GRCh37Chr 17, 41203128: 41203128
1540BRCA1NM_007294.3(BRCA1): c.529delT (p.Ser177Leufs)deletionPathogenicrs80357758GRCh37Chr 17, 41251810: 41251810
1541BRCA1NM_007294.3(BRCA1): c.5320_5321delAA (p.Asn1774Hisfs)deletionPathogenicrs80357818GRCh37Chr 17, 41203091: 41203092
1542BRCA1NM_007294.3(BRCA1): c.5328dupC (p.Thr1777Hisfs)duplicationPathogenicrs80357751GRCh37Chr 17, 41203083: 41203084
1543BRCA1NM_007294.3(BRCA1): c.5332+1G> Asingle nucleotide variantPathogenicrs80358041GRCh37Chr 17, 41203079: 41203079
1544BRCA1NM_007294.3(BRCA1): c.5333-1G> Csingle nucleotide variantPathogenicrs80358126GRCh37Chr 17, 41201212: 41201212
1545BRCA1NM_007294.3(BRCA1): c.5333-2A> Tsingle nucleotide variantLikely pathogenicrs397509264GRCh37Chr 17, 41201213: 41201213
1546BRCA1NM_007294.3(BRCA1): c.5341G> T (p.Glu1781Ter)single nucleotide variantPathogenicrs397509268GRCh37Chr 17, 41201203: 41201203
1547BRCA1NM_007294.3(BRCA1): c.5341delG (p.Glu1781Asnfs)deletionPathogenicrs80357694GRCh37Chr 17, 41201203: 41201203
1548BRCA1NM_007294.3(BRCA1): c.5345G> A (p.Trp1782Ter)single nucleotide variantPathogenicrs80357219GRCh37Chr 17, 41201199: 41201199
1549BRCA1NM_007294.3(BRCA1): c.5353C> T (p.Gln1785Ter)single nucleotide variantPathogenicrs80356969GRCh37Chr 17, 41201191: 41201191
1550BRCA1NM_007294.3(BRCA1): c.5359T> A (p.Cys1787Ser)single nucleotide variantPathogenicrs80357065GRCh37Chr 17, 41201185: 41201185
1551BRCA1NM_007294.3(BRCA1): c.5363G> A (p.Gly1788Asp)single nucleotide variantPathogenicrs80357069GRCh37Chr 17, 41201181: 41201181
1552BRCA1NM_007294.3(BRCA1): c.5406+5G> Asingle nucleotide variantPathogenicrs80358073GRCh37Chr 17, 41201133: 41201133
1553BRCA1NM_007294.3(BRCA1): c.5407-2A> Gsingle nucleotide variantPathogenicrs80358002GRCh37Chr 17, 41199722: 41199722
1554BRCA1NM_007294.3(BRCA1): c.5440delG (p.Ala1814Profs)deletionPathogenicrs80357946GRCh37Chr 17, 41199687: 41199687
1555BRCA1NM_007294.3(BRCA1): c.5444G> A (p.Trp1815Ter)single nucleotide variantPathogenicrs80356962GRCh37Chr 17, 41199683: 41199683
1556BRCA1NM_007294.3(BRCA1): c.5445G> A (p.Trp1815Ter)single nucleotide variantPathogenicrs397509284GRCh37Chr 17, 41199682: 41199682
1557BRCA1NM_007294.3(BRCA1): c.5449G> T (p.Glu1817Ter)single nucleotide variantPathogenicrs80356868GRCh37Chr 17, 41199678: 41199678
1558BRCA1NM_007294.3(BRCA1): c.547+1G> Tsingle nucleotide variantPathogenicrs80358030GRCh37Chr 17, 41251791: 41251791
1559BRCA1NM_007294.3(BRCA1): c.5492delC (p.Pro1831Leufs)deletionPathogenicrs80357582GRCh37Chr 17, 41197795: 41197795
1560BRCA1NM_007294.3(BRCA1): c.5496_5506delGGTGACCCGAGinsA (p.Val1833Serfs)indelPathogenicrs273902775GRCh37Chr 17, 41197781: 41197791
1561BRCA1NM_007294.3(BRCA1): c.5503_5564del62 (p.Arg1835Thrfs)deletionPathogenicrs80359883GRCh37Chr 17, 41197723: 41197784
1562BRCA1NM_007294.3(BRCA1): c.5506G> T (p.Glu1836Ter)single nucleotide variantPathogenicrs80356942GRCh37Chr 17, 41197781: 41197781
1563BRCA1NM_007294.3(BRCA1): c.5510G> A (p.Trp1837Ter)single nucleotide variantPathogenicrs80357307GRCh37Chr 17, 41197777: 41197777
1564BRCA1NM_007294.3(BRCA1): c.5511G> A (p.Trp1837Ter)single nucleotide variantPathogenicrs80356914GRCh37Chr 17, 41197776: 41197776
1565BRCA1NM_007294.3(BRCA1): c.5521delA (p.Ser1841Valfs)deletionPathogenicrs80357721GRCh37Chr 17, 41197766: 41197766
1566BRCA1NM_007294.3(BRCA1): c.5535C> A (p.Tyr1845Ter)single nucleotide variantPathogenicrs80356977GRCh37Chr 17, 41197752: 41197752
1567BRCA1NM_007294.3(BRCA1): c.5536C> T (p.Gln1846Ter)single nucleotide variantPathogenicrs80356873GRCh37Chr 17, 41197751: 41197751
1568BRCA1NM_007294.3(BRCA1): c.5541C> A (p.Cys1847Ter)single nucleotide variantPathogenicrs397509295GRCh37Chr 17, 41197746: 41197746
1569BRCA1NM_007294.3(BRCA1): c.5558dupA (p.Tyr1853Terfs)duplicationPathogenicrs80357629GRCh37Chr 17, 41197728: 41197729
1570BRCA1NM_007294.3(BRCA1): c.5559C> A (p.Tyr1853Ter)single nucleotide variantPathogenicrs80357336GRCh37Chr 17, 41197728: 41197728
1571BRCA1NM_007294.3(BRCA1): c.64delT (p.Leu22Terfs)deletionPathogenicrs80357803GRCh37Chr 17, 41276050: 41276050
1572BRCA1NM_007294.3(BRCA1): c.668delA (p.Lys223Argfs)deletionPathogenicrs80357745GRCh37Chr 17, 41247865: 41247865
1573BRCA1NM_007294.3(BRCA1): c.671-2A> Csingle nucleotide variantPathogenicrs80358108GRCh37Chr 17, 41246879: 41246879
1574BRCA1NM_007294.3(BRCA1): c.685delT (p.Ser229Leufs)deletionPathogenicrs80357824GRCh37Chr 17, 41246863: 41246863
1575BRCA1NM_007294.3(BRCA1): c.731delA (p.Asn244Metfs)deletionPathogenicrs80357700GRCh37Chr 17, 41246817: 41246817
1576BRCA1NM_007294.3(BRCA1): c.73_74delCC (p.Pro25Hisfs)deletionPathogenicrs80357633GRCh37Chr 17, 41276040: 41276041
1577BRCA1NM_007294.3(BRCA1): c.763G> T (p.Glu255Ter)single nucleotide variantPathogenicrs80357009GRCh37Chr 17, 41246785: 41246785
1578BRCA1NM_007294.3(BRCA1): c.775delG (p.Glu259Lysfs)deletionPathogenicrs80357628GRCh37Chr 17, 41246773: 41246773
1579BRCA1NM_007294.3(BRCA1): c.791_794delGTTC (p.Ser264Metfs)deletionPathogenicrs80357707GRCh37Chr 17, 41246754: 41246757
1580BRCA1NM_007294.3(BRCA1): c.794_795delCT (p.Ser265Cysfs)deletionPathogenicrs80357955GRCh37Chr 17, 41246753: 41246754
1581BRCA1NM_007294.3(BRCA1): c.80+1G> Asingle nucleotide variantPathogenicrs80358010GRCh37Chr 17, 41276033: 41276033
1582BRCA1NM_007294.3(BRCA1): c.800C> G (p.Ser267Ter)single nucleotide variantPathogenicrs80357392GRCh37Chr 17, 41246748: 41246748
1583BRCA1NM_007294.3(BRCA1): c.809delA (p.His270Leufs)deletionPathogenicrs80357965GRCh37Chr 17, 41246739: 41246739
1584BRCA1NM_007294.3(BRCA1): c.81-2delAdeletionPathogenicrs273902791GRCh37Chr 17, 41267798: 41267798
1585BRCA1NM_007294.3(BRCA1): c.822T> A (p.Cys274Ter)single nucleotide variantPathogenicrs80357331GRCh37Chr 17, 41246726: 41246726
1586BRCA1NM_007294.3(BRCA1): c.835delC (p.His279Metfs)deletionPathogenicrs80357523GRCh37Chr 17, 41246713: 41246713
1587BRCA1NM_007294.3(BRCA1): c.83_84delTG (p.Leu28Argfs)deletionPathogenicrs80357728GRCh37Chr 17, 41267793: 41267794
1588BRCA1NM_007294.3(BRCA1): c.844_850dupTCATTAC (p.Gln284Leufs)duplicationPathogenicrs80357989GRCh37Chr 17, 41246698: 41246704
1589BRCA1NM_007294.3(BRCA1): c.848T> A (p.Leu283Ter)single nucleotide variantPathogenicrs273902792GRCh37Chr 17, 41246700: 41246700
1590BRCA1NM_007294.3(BRCA1): c.851_852delAG (p.Gln284Profs)deletionPathogenicrs80357719GRCh37Chr 17, 41246696: 41246697
1591BRCA1NM_007294.3(BRCA1): c.895_896delGT (p.Val299Argfs)deletionPathogenicrs80357670GRCh37Chr 17, 41246652: 41246653
1592BRCA1NM_007294.3(BRCA1): c.904delG (p.Ala302Leufs)deletionPathogenicrs273903793GRCh37Chr 17, 41246644: 41246644
1593BRCA1NM_007294.3(BRCA1): c.911delT (p.Phe304Serfs)deletionPathogenicrs80357622GRCh37Chr 17, 41246637: 41246637
1594BRCA1NM_007294.3(BRCA1): c.922_923delAG (p.Ser308Glnfs)deletionPathogenicrs80357644GRCh37Chr 17, 41246625: 41246626
1595BRCA1NM_007294.3(BRCA1): c.922_924delAGCinsT (p.Ser308Terfs)indelPathogenicrs397509335GRCh37Chr 17, 41246624: 41246626
1596BRCA1NM_007294.3(BRCA1): c.923delG (p.Ser308Thrfs)deletionPathogenicrs80357953GRCh37Chr 17, 41246625: 41246625
1597BRCA1NM_007294.3(BRCA1): c.930delG (p.Gln310Hisfs)deletionPathogenicrs80357689GRCh37Chr 17, 41246618: 41246618
1598BRCA1NM_007294.3(BRCA1): c.949C> T (p.Gln317Ter)single nucleotide variantPathogenicrs80357211GRCh37Chr 17, 41246599: 41246599
1599BRCA1NM_007294.3(BRCA1): c.949_953delCAACA (p.Gln317Terfs)deletionPathogenicrs80357555GRCh37Chr 17, 41246595: 41246599
1600BRCA1NM_007294.3(BRCA1): c.959_960delGA (p.Arg320Metfs)deletionPathogenicrs397509339GRCh37Chr 17, 41246588: 41246589
1601BRCA1NM_007294.3(BRCA1): c.964delG (p.Ala322Leufs)deletionPathogenicrs273903794GRCh37Chr 17, 41246584: 41246584
1602BRCA1NM_007294.3(BRCA1): c.980_981delCA (p.Thr327Metfs)deletionPathogenicrs80357610GRCh37Chr 17, 41246567: 41246568
1603BRCA1NM_007294.3(BRCA1): c.981_982delAT (p.Cys328Terfs)deletionPathogenicrs80357772GRCh37Chr 17, 41246566: 41246567
1604BRCA2NM_000059.3(BRCA2): c.1321dupA (p.Thr441Asnfs)duplicationPathogenicrs80359281GRCh37Chr 13, 32906936: 32906937
1605BRCA2NM_000059.3(BRCA2): c.2834_2835delAA (p.Lys945Argfs)deletionPathogenicrs80359356GRCh37Chr 13, 32911326: 32911327
1606BRCA2NM_000059.3(BRCA2): c.5961G> T (p.Gln1987His)single nucleotide variantLikely pathogenicrs387907575GRCh37Chr 13, 32914453: 32914453
1607RAD51CRAD51C, IVS5DS, G-T, +5single nucleotide variantrisk factor
1608RAD51CNM_058216.2(RAD51C): c.374G> T (p.Gly125Val)single nucleotide variantrisk factorrs267606998GRCh37Chr 17, 56772520: 56772520
1609RAD51CNM_058216.2(RAD51C): c.414G> C (p.Leu138Phe)single nucleotide variantLikely pathogenic, risk factorrs267606999GRCh37Chr 17, 56774063: 56774063
1610BRCA2NM_000059.3(BRCA2): c.5195delT (p.Leu1732Profs)deletionPathogenicGRCh37Chr 13, 32913687: 32913687
1611BRCA2NM_000059.3(BRCA2): c.5343_5344insA (p.Gln1782Thrfs)insertionPathogenicrs398122530GRCh37Chr 13, 32913835: 32913836
1612BRCA2NM_000059.3(BRCA2): c.5352delC (p.Asn1784Lysfs)deletionPathogenicrs398122531GRCh37Chr 13, 32913844: 32913844
1613BRCA2NM_000059.3(BRCA2): c.5584_5587delGTGA (p.Val1862Lysfs)deletionPathogenicrs398122535GRCh37Chr 13, 32914076: 32914079
1614BRCA2NM_000059.3(BRCA2): c.5692delG (p.Asp1898Metfs)deletionPathogenicrs398122539GRCh37Chr 13, 32914184: 32914184
1615BRCA2NM_000059.3(BRCA2): c.5842delT (p.Cys1948Valfs)deletionPathogenicrs398122541GRCh37Chr 13, 32914334: 32914334
1616BRCA2NM_000059.3(BRCA2): c.6019_6020insTA (p.Thr2007Ilefs)insertionPathogenicrs398122545GRCh37Chr 13, 32914511: 32914512
1617BRCA2NM_000059.3(BRCA2): c.6059_6062delAACA (p.Glu2020Valfs)deletionPathogenicrs398122546GRCh37Chr 13, 32914551: 32914554
1618BRCA2NM_000059.3(BRCA2): c.635_636delGA (p.Arg212Lysfs)deletionPathogenicrs398122553GRCh37Chr 13, 32903583: 32903584
1619BRCA2NM_000059.3(BRCA2): c.6392_6396delAATTA (p.Lys2131Ilefs)deletionPathogenicrs398122555GRCh37Chr 13, 32914884: 32914888
1620BRCA2NM_000059.3(BRCA2): c.6405_6408delCTTA (p.Asn2135Lysfs)deletionPathogenicrs398122556GRCh37Chr 13, 32914897: 32914900
1621BRCA2NM_000059.3(BRCA2): c.6444delT (p.Ile2149Leufs)deletionPathogenicrs398122557GRCh37Chr 13, 32914936: 32914936
1622BRCA2NM_000059.3(BRCA2): c.6487C> T (p.Gln2163Ter)single nucleotide variantPathogenicrs398122559GRCh37Chr 13, 32914979: 32914979
1623BRCA2NM_000059.3(BRCA2): c.6586A> T (p.Lys2196Ter)single nucleotide variantPathogenicrs398122561GRCh37Chr 13, 32915078: 32915078
1624BRCA2NM_000059.3(BRCA2): c.6627_6628insTA (p.Glu2210Terfs)insertionPathogenicrs398122562GRCh37Chr 13, 32915119: 32915120
1625BRCA2NM_000059.3(BRCA2): c.681+1G> Asingle nucleotide variantLikely pathogenicrs398122565GRCh37Chr 13, 32903630: 32903630
1626BRCA2NM_000059.3(BRCA2): c.6859_6863delAGAAA (p.Arg2287Leufs)deletionPathogenicrs398122568GRCh37Chr 13, 32918712: 32918716
1627BRCA2NM_000059.3(BRCA2): c.6946_6949delAAAG (p.Lys2316Ilefs)deletionPathogenicrs398122571GRCh37Chr 13, 32920972: 32920975
1628BRCA2NM_000059.3: c.6996_7004delTGTACCCTTins20indelPathogenicGRCh37Chr 13, 32921022: 32921030
1629BRCA2NM_000059.3(BRCA2): c.7142delC (p.Pro2381Hisfs)deletionPathogenicrs398122576GRCh37Chr 13, 32929132: 32929132
1630BRCA2NM_000059.3(BRCA2): c.7525dupA (p.Ser2509Lysfs)duplicationPathogenicrs80359656GRCh37Chr 13, 32930654: 32930655
1631BRCA2NM_000059.3(BRCA2): c.7556dupC (p.Arg2520Serfs)duplicationPathogenicrs80359660GRCh37Chr 13, 32930685: 32930686
1632BRCA2NM_000059.3(BRCA2): c.7890_7891insAA (p.Leu2631Asnfs)insertionPathogenicrs398122593GRCh37Chr 13, 32936744: 32936745
1633BRCA2NM_000059.3(BRCA2): c.8200_8209delCCTCCCCTCT (p.Pro2734Terfs)deletionPathogenicrs398122599GRCh37Chr 13, 32937539: 32937548
1634BRCA2NM_000059.3(BRCA2): c.8308delG (p.Ala2770Profs)deletionPathogenicrs398122601GRCh37Chr 13, 32937647: 32937647
1635BRCA2NM_000059.3(BRCA2): c.8331+2T> Asingle nucleotide variantPathogenicrs398122602GRCh37Chr 13, 32937672: 32937672
1636BRCA2NM_000059.3(BRCA2): c.8374delC (p.Gly2793Aspfs)deletionPathogenicrs398122605GRCh37Chr 13, 32944581: 32944581
1637BRCA2NM_000059.3: c.8400_8402delTTTins4indelPathogenicGRCh37Chr 13, 32944607: 32944609
1638BRCA2NM_000059.3(BRCA2): c.9060delT (p.Glu3021Lysfs)deletionPathogenicrs398122609GRCh37Chr 13, 32953993: 32953993
1639BRCA2NM_000059.3(BRCA2): c.9252_9255delAACAinsTT (p.Lys3084Asnfs)indelPathogenicrs276174918GRCh37Chr 13, 32954278: 32954281
1640BRCA2NM_000059.3(BRCA2): c.9376delC (p.Gln3126Serfs)deletionPathogenicrs398122612GRCh37Chr 13, 32968945: 32968945
1641BRCA2NM_000059.3(BRCA2): c.9573G> A (p.Trp3191Ter)single nucleotide variantPathogenicrs398122617GRCh37Chr 13, 32971106: 32971106
1642BRCA2NM_000059.3(BRCA2): c.9682delA (p.Ser3228Valfs)deletionPathogenicrs398122618GRCh37Chr 13, 32972332: 32972332
1643BRCA2NM_000059.3(BRCA2): c.9808delG (p.Ala3270Profs)deletionPathogenicrs398122622GRCh37Chr 13, 32972458: 32972458
1644BRCA2NM_000059.3(BRCA2): c.9824delG (p.Ser3275Ilefs)deletionPathogenicrs398122623GRCh37Chr 13, 32972474: 32972474
1645BRCA1NM_007294.3(BRCA1): c.1086_1141del56 (p.Asn363Serfs)deletionPathogenicrs80359875GRCh37Chr 17, 41246407: 41246462
1646BRCA1NM_007294.3(BRCA1): c.1093A> T (p.Arg365Ter)single nucleotide variantPathogenicrs398122627GRCh37Chr 17, 41246455: 41246455
1647BRCA1NM_007294.3(BRCA1): c.1292delT (p.Leu431Tyrfs)deletionPathogenicrs398122629GRCh37Chr 17, 41246256: 41246256
1648BRCA1NM_007294.3(BRCA1): c.1326_1327insGT (p.Lys443Valfs)insertionPathogenicrs80357543GRCh37Chr 17, 41246221: 41246222
1649BRCA1NM_007294.3(BRCA1): c.1327A> T (p.Lys443Ter)single nucleotide variantPathogenicrs398122630GRCh37Chr 17, 41246221: 41246221
1650BRCA1NM_007294.3(BRCA1): c.1336dupA (p.Arg446Lysfs)duplicationPathogenicrs398122631GRCh37Chr 17, 41246211: 41246212
1651BRCA1NM_007294.3(BRCA1): c.134+2T> Csingle nucleotide variantPathogenicrs80358131GRCh37Chr 17, 41267741: 41267741
1652BRCA1NM_007294.3(BRCA1): c.134+5G> Asingle nucleotide variantLikely pathogenicrs80358038GRCh37Chr 17, 41267738: 41267738
1653BRCA1NM_007294.3(BRCA1): c.1361delG (p.Ser454Ilefs)deletionPathogenicrs398122632GRCh37Chr 17, 41246187: 41246187
1654BRCA1NM_007294.3(BRCA1): c.1377_1378delAA (p.Lys459Asnfs)deletionPathogenicrs398122633GRCh37Chr 17, 41246170: 41246171
1655BRCA1NM_007294.3(BRCA1): c.141C> A (p.Cys47Ter)single nucleotide variantPathogenicrs398122635GRCh37Chr 17, 41258544: 41258544
1656BRCA1NM_007294.3(BRCA1): c.1512dupT (p.Lys505Terfs)duplicationPathogenicrs398122636GRCh37Chr 17, 41246035: 41246036
1657BRCA1NM_007294.3(BRCA1): c.1628delG (p.Gly543Valfs)deletionPathogenicrs398122640GRCh37Chr 17, 41245920: 41245920
1658BRCA1NM_007294.3(BRCA1): c.1744delA (p.Thr582Argfs)deletionPathogenicrs398122641GRCh37Chr 17, 41245804: 41245804
1659BRCA1NM_007294.3(BRCA1): c.1759delA (p.Ile587Terfs)deletionPathogenicrs398122642GRCh37Chr 17, 41245789: 41245789
1660BRCA1NM_007294.3(BRCA1): c.1875delA (p.Val626Terfs)deletionPathogenicrs398122646GRCh37Chr 17, 41245673: 41245673
1661BRCA1NM_007294.3(BRCA1): c.18_19insG (p.Arg7Alafs)insertionPathogenicrs398122648GRCh37Chr 17, 41276095: 41276096
1662BRCA1NM_007294.3(BRCA1): c.1921delA (p.Ile641Leufs)deletionPathogenicrs398122650GRCh37Chr 17, 41245627: 41245627
1663BRCA1NM_007294.3(BRCA1): c.2070_2071delAA (p.Arg691Thrfs)deletionPathogenicrs273898676GRCh37Chr 17, 41245477: 41245478
1664BRCA1NM_007294.3(BRCA1): c.2131_2132delAA (p.Lys711Valfs)deletionPathogenicrs398122653GRCh37Chr 17, 41245416: 41245417
1665BRCA1NM_007294.3(BRCA1): c.2199delG (p.Lys734Asnfs)deletionPathogenicrs80357944GRCh37Chr 17, 41245349: 41245349
1666BRCA1NM_007294.3(BRCA1): c.2246_2247insGA (p.Asp749Glufs)insertionPathogenicrs398122654GRCh37Chr 17, 41245301: 41245302
1667BRCA1NM_007294.3(BRCA1): c.2386dupA (p.Thr796Asnfs)duplicationPathogenicrs398122657GRCh37Chr 17, 41245161: 41245162
1668BRCA1NM_007294.3(BRCA1): c.241_251delCAACTTGTTGA (p.Gln81Argfs)deletionPathogenicrs398122659GRCh37Chr 17, 41256935: 41256945
1669BRCA1NM_007294.3: c.2504_2505ins17insertionPathogenicrs483353078GRCh37Chr 17, 41245043: 41245044
1670BRCA1NM_007294.3(BRCA1): c.250G> T (p.Glu84Ter)single nucleotide variantPathogenicrs398122661GRCh37Chr 17, 41256936: 41256936
1671BRCA1NM_007294.3(BRCA1): c.2654delT (p.Phe885Serfs)deletionPathogenicrs398122663GRCh37Chr 17, 41244894: 41244894
1672BRCA1NM_007294.3(BRCA1): c.2686dupA (p.Ser896Lysfs)duplicationPathogenicrs398122664GRCh37Chr 17, 41244861: 41244862
1673BRCA1NM_007294.3(BRCA1): c.2748delT (p.Asn916Lysfs)deletionPathogenicrs398122667GRCh37Chr 17, 41244800: 41244800
1674BRCA1NM_007294.3(BRCA1): c.2774delT (p.Ile925Thrfs)deletionPathogenicrs398122669GRCh37Chr 17, 41244774: 41244774
1675BRCA1NM_007294.3(BRCA1): c.2902_2903insTC (p.Pro968Leufs)insertionPathogenicrs398122670GRCh37Chr 17, 41244645: 41244646
1676BRCA1NM_007294.3(BRCA1): c.3204delT (p.Gln1069Lysfs)deletionPathogenicrs398122673GRCh37Chr 17, 41244344: 41244344
1677BRCA1NM_007294.3(BRCA1): c.3599_3600delAG (p.Gln1200Argfs)deletionPathogenicrs398122674GRCh37Chr 17, 41243948: 41243949
1678BRCA1NM_007294.3(BRCA1): c.3761_3762insTT (p.Lys1254Asnfs)insertionPathogenicrs80357928GRCh37Chr 17, 41243786: 41243787
1679BRCA1NM_007294.3: c.3839_3843delCTCAGins4indelPathogenicrs273900717GRCh37Chr 17, 41243705: 41243709
1680BRCA1NM_007294.3(BRCA1): c.4054G> T (p.Glu1352Ter)single nucleotide variantPathogenicrs80357202GRCh37Chr 17, 41243494: 41243494
1681BRCA1NM_007294.3(BRCA1): c.4062_4065delTAAT (p.Asn1355Lysfs)deletionPathogenicrs398122679GRCh37Chr 17, 41243483: 41243486
1682BRCA1NM_007294.3(BRCA1): c.4094T> G (p.Leu1365Ter)single nucleotide variantPathogenicrs398122681GRCh37Chr 17, 41243454: 41243454
1683BRCA1NM_007294.3(BRCA1): c.4116_4117insTT (p.Glu1373Leufs)insertionPathogenicrs398122682GRCh37Chr 17, 41243029: 41243030
1684BRCA1NM_007294.3: c.4155_4156ins10insertionPathogenicrs483353079GRCh37Chr 17, 41242990: 41242991
1685BRCA1NM_007294.3(BRCA1): c.4354A> T (p.Lys1452Ter)single nucleotide variantPathogenicrs398122685GRCh37Chr 17, 41234424: 41234424
1686BRCA1NM_007294.3(BRCA1): c.4357+2T> Gsingle nucleotide variantPathogenicrs80358152GRCh37Chr 17, 41234419: 41234419
1687BRCA1NM_007294.3(BRCA1): c.4493delC (p.Pro1498Leufs)deletionPathogenicrs398122687GRCh37Chr 17, 41226530: 41226530
1688BRCA1NM_007294.3(BRCA1): c.5075-3C> Gsingle nucleotide variantLikely pathogenicrs398122690GRCh37Chr 17, 41215971: 41215971
1689BRCA1NM_007294.3(BRCA1): c.5186delT (p.Leu1729Argfs)deletionPathogenicrs398122692GRCh37Chr 17, 41215357: 41215357
1690BRCA1NM_007294.3(BRCA1): c.5193+1G> Tsingle nucleotide variantPathogenicrs80358004GRCh37Chr 17, 41215349: 41215349
1691BRCA1NM_007294.3(BRCA1): c.5277+1delGdeletionPathogenicrs273901754GRCh37Chr 17, 41209068: 41209068
1692BRCA1NM_007294.3(BRCA1): c.5468-2A> Gsingle nucleotide variantLikely pathogenicrs398122699GRCh38Chr 17, 43045804: 43045804
1693BRCA1NM_007294.3(BRCA1): c.670+1G> Tsingle nucleotide variantPathogenicrs398122706GRCh37Chr 17, 41247862: 41247862
1694BRCA1NM_007294.3(BRCA1): c.936delC (p.Leu313Terfs)deletionPathogenicrs398122709GRCh37Chr 17, 41246612: 41246612
1695BRCA2LRG_293p1: p.Asp3095Gluprotein onlyPathogenic
1696BRCA2LRG_293p1: p.Leu557Terprotein onlyPathogenic
1697BRCA2LRG_293p1: p.Met1Ileprotein onlyPathogenic
1698BRCA2LRG_293p1: p.Ser1630Terprotein onlyPathogenic
1699BRCA2LRG_293p1: p.Ser1760Terprotein onlyPathogenic
1700BRCA2LRG_293p1: p.Ser1882Terprotein onlyPathogenic
1701BRCA2LRG_293p1: p.Ser1955Terprotein onlyPathogenic
1702BRCA2LRG_293p1: p.Ser1970Terprotein onlyPathogenic
1703BRCA2LRG_293p1: p.Ser2984Terprotein onlyPathogenic
1704BRCA2LRG_293p1: p.Ser2994Terprotein onlyPathogenic
1705BRCA2LRG_293p1: p.Ser611Terprotein onlyPathogenic
1706BRCA2LRG_293p1: p.Ser780Terprotein onlyPathogenic
1707BRCA2LRG_293p1: p.Ser869Terprotein onlyPathogenic
1708BRCA2LRG_293p1: p.Trp2586Terprotein onlyPathogenic
1709BRCA2LRG_293p1: p.Trp3127Terprotein onlyPathogenic
1710BRCA2LRG_293p1: p.Trp993Terprotein onlyPathogenic
1711BRCA2LRG_293p1: p.Tyr1655Terprotein onlyPathogenic
1712BRCA2LRG_293p1: p.Tyr1894Terprotein onlyPathogenic
1713BRCA2LRG_293p1: p.Tyr3308Terprotein onlyPathogenic
1714BRCA2LRG_293p1: p.Tyr792Terprotein onlyPathogenic
1715BRCA1LRG_292p1: p.Ala521Terprotein onlyPathogenic
1716BRCA1LRG_292p1: p.Cys39Serprotein onlyPathogenic
1717BRCA1LRG_292p1: p.Gly1738Argprotein onlyPathogenic
1718BRCA1LRG_292p1: p.Leu1230Terprotein onlyPathogenic
1719BRCA1LRG_292p1: p.Leu598Terprotein onlyPathogenic
1720BRCA1LRG_292p1: p.Ser1383Terprotein onlyPathogenic
1721BRCA1LRG_292p1: p.Ser868Terprotein onlyPathogenic
1722BRCA1LRG_292p1: p.Trp1508Terprotein onlyPathogenic
1723BRCA1LRG_292p1: p.Trp1782Terprotein onlyPathogenic
1724BRCA1LRG_292p1: p.Trp1815Terprotein onlyPathogenic
1725BRCA1LRG_292p1: p.Trp1837Argprotein onlyLikely pathogenic
1726BRCA1LRG_292p1: p.Trp321Terprotein onlyPathogenic
1727BRCA1LRG_292p1: p.Tyr1563Terprotein onlyPathogenic
1728BRCA1LRG_292p1: p.Tyr1703Terprotein onlyPathogenic
1729BRCA1LRG_292p1: p.Tyr261Terprotein onlyPathogenic
1730BRCA2NM_000059.3(BRCA2): c.8633-1G> Asingle nucleotide variantLikely pathogenicrs398122711GRCh37Chr 13, 32950806: 32950806
1731BRCA2NM_000059.3(BRCA2): c.8839G> T (p.Glu2947Ter)single nucleotide variantPathogenicrs398122715GRCh37Chr 13, 32953538: 32953538
1732BRCA2NM_000059.3(BRCA2): c.8933C> G (p.Ser2978Ter)single nucleotide variantPathogenicrs80359144GRCh37Chr 13, 32953632: 32953632
1733BRCA2NM_000059.3(BRCA2): c.1399_1402delAAGA (p.Lys467Glufs)deletionPathogenicrs398122726GRCh37Chr 13, 32907014: 32907017
1734BRCA2NM_000059.3(BRCA2): c.1819A> T (p.Lys607Ter)single nucleotide variantPathogenicrs80358471GRCh37Chr 13, 32907434: 32907434
1735BRCA2NM_000059.3(BRCA2): c.186delT (p.Phe62Leufs)deletionPathogenicrs398122733GRCh37Chr 13, 32893332: 32893332
1736BRCA2NM_000059.3(BRCA2): c.1945C> T (p.Gln649Ter)single nucleotide variantPathogenicrs398122735GRCh37Chr 13, 32910437: 32910437
1737BRCA2NM_000059.3(BRCA2): c.2025delA (p.Cys676Valfs)deletionPathogenicrs398122737GRCh37Chr 13, 32910517: 32910517
1738BRCA2NM_000059.3(BRCA2): c.217C> T (p.Gln73Ter)single nucleotide variantPathogenicrs398122741GRCh37Chr 13, 32893363: 32893363
1739BRCA2NM_000059.3(BRCA2): c.2214T> A (p.Cys738Ter)single nucleotide variantPathogenicrs398122742GRCh37Chr 13, 32910706: 32910706
1740BRCA2NM_000059.3(BRCA2): c.2253_2254delTG (p.Asp752Leufs)deletionPathogenicrs398122744GRCh37Chr 13, 32910745: 32910746
1741BRCA2NM_000059.3(BRCA2): c.2330dupA (p.Asp777Glufs)duplicationPathogenicrs80359328GRCh37Chr 13, 32910822: 32910823
1742BRCA2NM_000059.3(BRCA2): c.2368G> T (p.Glu790Ter)single nucleotide variantPathogenicrs398122746GRCh37Chr 13, 32910860: 32910860
1743BRCA2NM_000059.3(BRCA2): c.2370delA (p.Glu790Aspfs)deletionPathogenicrs398122747GRCh37Chr 13, 32910862: 32910862
1744BRCA2NM_000059.3(BRCA2): c.2617dupA (p.Ile873Asnfs)duplicationPathogenicrs398122748GRCh37Chr 13, 32911109: 32911110
1745BRCA2NM_000059.3(BRCA2): c.2618dupT (p.Thr874Asnfs)duplicationPathogenicrs398122749GRCh37Chr 13, 32911110: 32911111
1746BRCA2NM_000059.3(BRCA2): c.2692_2696delAGGAA (p.Arg898Terfs)deletionPathogenicrs398122752GRCh37Chr 13, 32911184: 32911188
1747BRCA2NM_000059.3(BRCA2): c.3326delC (p.Ala1109Glufs)deletionPathogenicrs398122762GRCh37Chr 13, 32911818: 32911818
1748BRCA2NM_000059.3(BRCA2): c.3336delA (p.Glu1113Asnfs)deletionPathogenicrs398122763GRCh37Chr 13, 32911828: 32911828
1749BRCA2NM_000059.3(BRCA2): c.3708dupA (p.Ala1237Serfs)duplicationPathogenicrs398122769GRCh37Chr 13, 32912200: 32912201
1750BRCA2NM_000059.3(BRCA2): c.3873delA (p.Gln1291Hisfs)deletionPathogenicrs398122772GRCh37Chr 13, 32912365: 32912365
1751BRCA2NM_000059.3(BRCA2): c.4000_4001delTT (p.Leu1334Argfs)deletionPathogenicrs398122775GRCh37Chr 13, 32912492: 32912493
1752BRCA2NM_000059.3: c.410_411ins8insertionPathogenicrs483353080GRCh37Chr 13, 32899306: 32899307
1753BRCA2NM_000059.3(BRCA2): c.4211delC (p.Ser1404Terfs)deletionPathogenicrs398122777GRCh37Chr 13, 32912703: 32912703
1754BRCA2NM_000059.3(BRCA2): c.426-2A> Gsingle nucleotide variantPathogenicrs398122779GRCh37Chr 13, 32900236: 32900236
1755BRCA2NM_000059.3(BRCA2): c.4325C> G (p.Ser1442Ter)single nucleotide variantPathogenicrs80358670GRCh37Chr 13, 32912817: 32912817
1756BRCA2NM_000059.3(BRCA2): c.4847T> G (p.Leu1616Ter)single nucleotide variantPathogenicrs398122786GRCh37Chr 13, 32913339: 32913339
1757BRCA2NM_000059.3: c.48_50delGACins10indelPathogenicGRCh38Chr 13, 32316508: 32316510
1758BRCA2NM_000059.3(BRCA2): c.4964dupA (p.Tyr1655Terfs)duplicationPathogenicrs398122789GRCh37Chr 13, 32913456: 32913457
1759BRCA2NM_000059.3(BRCA2): c.4990_4991delAT (p.Ile1664Terfs)deletionPathogenicrs398122790GRCh37Chr 13, 32913482: 32913483
1760BRCA2NM_000059.3(BRCA2): c.5054C> A (p.Ser1685Ter)single nucleotide variantPathogenicrs398122791GRCh37Chr 13, 32913546: 32913546
1761BRCA2NM_000059.3(BRCA2): c.512dupT (p.Lys172Glufs)duplicationPathogenicrs398122793GRCh37Chr 13, 32900415: 32900416
1762BRCA2NM_000059.3: c.5201_5205delAAAAAins6indelPathogenicGRCh37Chr 13, 32913693: 32913697
1763BRCA2NM_000059.3(BRCA2): c.5215delT (p.Tyr1739Ilefs)deletionPathogenicrs398122796GRCh37Chr 13, 32913707: 32913707
1764BRCA2BRCA2, 6-BP DEL, PHE-TERdeletionPathogenic
1765BRCA2BRCA2, 1-BP DELdeletionPathogenic
1766BRCA2BRCA2, 4-BP DELdeletionPathogenic
1767BRCA2BRCA2, 1-BP DEL, 8525CdeletionPathogenic
1768BRCA2NM_000059.3(BRCA2): c.3904_3906delACT (p.Thr1302del)deletionPathogenicrs80359414GRCh37Chr 13, 32912396: 32912398
1769BRCA2BRCA2, 1-BP INS, 3295AinsertionPathogenic
1770BRCA2BRCA2, IVS23AS, A-G, -2single nucleotide variantPathogenic
1771BRCA2BRCA2, 4-BP DEL, NT3034deletionPathogenic
1772BRCA2NM_000059.3(BRCA2): c.8165C> G (p.Thr2722Arg)single nucleotide variantPathogenicrs80359062GRCh37Chr 13, 32937504: 32937504
1773BRCA2NM_000059.3(BRCA2): c.1907C> G (p.Ser636Ter)single nucleotide variantLikely pathogenicrs431825288GRCh37Chr 13, 32907522: 32907522
1774BRCA2NM_000059.3(BRCA2): c.2091dupA (p.Leu698Thrfs)duplicationPathogenicrs431825292GRCh37Chr 13, 32910583: 32910584
1775BRCA2NM_000059.3(BRCA2): c.2840delT (p.Leu947Trpfs)deletionPathogenicrs431825300GRCh37Chr 13, 32911332: 32911332
1776BRCA2NM_000059.3(BRCA2): c.3386dupA (p.Phe1130Valfs)duplicationPathogenicrs431825305GRCh37Chr 13, 32911878: 32911879
1777BRCA2NM_000059.3(BRCA2): c.3477C> A (p.Cys1159Ter)single nucleotide variantPathogenicrs431825307GRCh37Chr 13, 32911969: 32911969
1778BRCA2NM_000059.3(BRCA2): c.3779delT (p.Leu1260Tyrfs)deletionPathogenicrs431825312GRCh37Chr 13, 32912271: 32912271
1779BRCA2NM_000059.3(BRCA2): c.3856_3859delAAAA (p.Lys1286Ilefs)deletionPathogenicrs431825313GRCh37Chr 13, 32912348: 32912351
1780BRCA2NM_000059.3(BRCA2): c.3939C> G (p.Tyr1313Ter)single nucleotide variantPathogenicrs80358641GRCh37Chr 13, 32912431: 32912431
1781BRCA2NM_000059.3(BRCA2): c.4085delA (p.His1362Profs)deletionPathogenicrs431825315GRCh37Chr 13, 32912577: 32912577
1782BRCA2NM_000059.3(BRCA2): c.4519delC (p.Gln1507Argfs)deletionPathogenicrs431825321GRCh37Chr 13, 32913011: 32913011
1783BRCA2NM_000059.3(BRCA2): c.4936_4937delGA (p.Glu1646Asnfs)deletionPathogenicrs431825323GRCh37Chr 13, 32913428: 32913429
1784BRCA2NM_000059.3(BRCA2): c.4976_4977insG (p.Tyr1661Leufs)insertionPathogenicrs431825325GRCh37Chr 13, 32913468: 32913469
1785BRCA2NM_000059.3(BRCA2): c.5378delA (p.Asn1793Metfs)deletionPathogenicrs431825330GRCh37Chr 13, 32913870: 32913870
1786BRCA2NM_000059.3(BRCA2): c.5578A> T (p.Lys1860Ter)single nucleotide variantPathogenicrs431825332GRCh37Chr 13, 32914070: 32914070
1787BRCA2NM_000059.3(BRCA2): c.6211delA (p.Ser2071Valfs)deletionPathogenicrs431825338GRCh37Chr 13, 32914703: 32914703
1788BRCA2NM_000059.3(BRCA2): c.6397dupT (p.Ser2133Phefs)duplicationPathogenicrs431825342GRCh37Chr 13, 32914889: 32914890
1789BRCA2NM_000059.3(BRCA2): c.6602delC (p.Ser2201Leufs)deletionPathogenicrs431825343GRCh37Chr 13, 32915094: 32915094
1790BRCA2NM_000059.3(BRCA2): c.6959T> A (p.Leu2320Ter)single nucleotide variantPathogenicrs80358923GRCh37Chr 13, 32920985: 32920985
1791BRCA2NM_000059.3(BRCA2): c.715delA (p.Ser239Valfs)deletionPathogenicrs431825350GRCh37Chr 13, 32905089: 32905089
1792BRCA2NM_000059.3(BRCA2): c.8463delT (p.Ile2822Phefs)deletionPathogenicrs431825365GRCh37Chr 13, 32944670: 32944670
1793BRCA2NM_000059.3(BRCA2): c.8632+1G> Tsingle nucleotide variantLikely pathogenicrs397507997GRCh37Chr 13, 32945238: 32945238
1794BRCA2NM_000059.3(BRCA2): c.8837T> A (p.Leu2946Ter)single nucleotide variantPathogenicrs431825371GRCh37Chr 13, 32953536: 32953536
1795BRCA2NM_000059.3(BRCA2): c.8975_9100del126 (p.Pro2992_Thr3033del)deletionLikely pathogenicrs80359736GRCh37Chr 13, 32953908: 32954033
1796BRCA2NM_000059.3(BRCA2): c.9256+1G> Csingle nucleotide variantPathogenicrs81002883GRCh37Chr 13, 32954283: 32954283
1797BRCA1NM_007294.3: c.*102_*105delCTGTdeletionPathogenicrs431825382GRCh37Chr 17, 41197590: 41197593
1798BRCA1NM_007294.3(BRCA1): c.1148_1149delAT (p.Asn383Argfs)deletionPathogenicrs431825384GRCh37Chr 17, 41246399: 41246400
1799BRCA1NM_007294.3(BRCA1): c.1214C> G (p.Ser405Ter)single nucleotide variantPathogenicrs80357481GRCh37Chr 17, 41246334: 41246334
1800BRCA1NM_007294.3: c.1298_1299ins4insertionPathogenicrs483353083GRCh37Chr 17, 41246249: 41246250
1801BRCA1NM_007294.3(BRCA1): c.130dupT (p.Cys44Leufs)duplicationPathogenicrs431825385GRCh37Chr 17, 41267746: 41267747
1802BRCA1NM_007294.3(BRCA1): c.134+5G> Tsingle nucleotide variantLikely pathogenicrs80358038GRCh37Chr 17, 41267738: 41267738
1803BRCA1NM_007294.3(BRCA1): c.1434delT (p.Glu479Lysfs)deletionPathogenicrs431825386GRCh37Chr 17, 41246114: 41246114
1804BRCA1NM_007294.3(BRCA1): c.1579_1580delAA (p.Lys527Aspfs)deletionPathogenicrs431825387GRCh37Chr 17, 41245968: 41245969
1805BRCA1NM_007294.3(BRCA1): c.2001dupA (p.Leu668Thrfs)duplicationPathogenicrs80357521GRCh37Chr 17, 41245546: 41245547
1806BRCA1NM_007294.3(BRCA1): c.2101_2102delAA (p.Lys701Valfs)deletionPathogenicrs431825389GRCh37Chr 17, 41245446: 41245447
1807BRCA1NM_007294.3(BRCA1): c.2332_2333insTG (p.Gly778Valfs)insertionPathogenicrs431825390GRCh37Chr 17, 41245215: 41245216
1808BRCA1NM_007294.3(BRCA1): c.368delC (p.Ser123Leufs)deletionPathogenicrs431825397GRCh37Chr 17, 41256212: 41256212
1809BRCA1NM_007294.3(BRCA1): c.3759delT (p.Lys1254Argfs)deletionPathogenicrs431825398GRCh37Chr 17, 41243789: 41243789
1810BRCA1NM_007294.3(BRCA1): c.4072G> T (p.Glu1358Ter)single nucleotide variantPathogenicrs397509136GRCh37Chr 17, 41243476: 41243476
1811BRCA1NM_007294.3(BRCA1): c.4183_4184insTC (p.Gln1395Leufs)insertionPathogenicrs80357742GRCh37Chr 17, 41242962: 41242963
1812BRCA1NM_007294.3(BRCA1): c.4185+2T> Asingle nucleotide variantPathogenicrs431825406GRCh37Chr 17, 41242959: 41242959
1813BRCA1NM_007294.3(BRCA1): c.4348dupT (p.Ser1450Phefs)duplicationPathogenicrs80357548GRCh37Chr 17, 41234429: 41234430
1814BRCA1NM_007294.3: c.4450_4451ins4insertionPathogenicrs483353084GRCh37Chr 17, 41228538: 41228539
1815BRCA1NM_007294.3(BRCA1): c.4587_4590delTAAG (p.Ile1529Metfs)deletionPathogenicrs431825409GRCh37Chr 17, 41226433: 41226436
1816BRCA1NM_007294.3(BRCA1): c.4986+5G> Asingle nucleotide variantPathogenicrs397509211GRCh37Chr 17, 41222940: 41222940
1817BRCA1NM_007294.3(BRCA1): c.5026_5030delTTAAC (p.Leu1676Terfs)deletionPathogenicrs431825410GRCh37Chr 17, 41219669: 41219673
1818BRCA1NM_007294.3(BRCA1): c.5193+1G> Asingle nucleotide variantPathogenicrs80358004GRCh37Chr 17, 41215349: 41215349
1819BRCA1NM_007294.3(BRCA1): c.5268_5269insC (p.Asp1757Argfs)insertionPathogenicrs431825414GRCh37Chr 17, 41209077: 41209078
1820BRCA1NM_007294.3(BRCA1): c.5467+3A> Csingle nucleotide variantPathogenicrs431825417GRCh37Chr 17, 41199657: 41199657
1821BRCA1NM_007294.3(BRCA1): c.5479_5480insGA (p.Met1827Argfs)insertionPathogenicrs80357757GRCh37Chr 17, 41197807: 41197808
1822BRCA1NM_007294.3(BRCA1): c.69_70insAG (p.Cys24Serfs)insertionPathogenicrs80357914GRCh37Chr 17, 41276044: 41276045
1823BRCA2LRG_293p1: p.Gly2793Argprotein onlyPathogenic
1824BRCA2LRG_293p1: p.Ser3200Terprotein onlyPathogenic
1825BRCA1LRG_292p1: p.Leu1086Terprotein onlyPathogenic
1826BRCA1LRG_292p1: p.Leu63Terprotein onlyPathogenic
1827BRCA1LRG_292p1: p.Ser1007Terprotein onlyPathogenic
1828BRCA1LRG_292p1: p.Ser713Terprotein onlyPathogenic
1829BRCA1LRG_292p1: p.Trp1712Terprotein onlyPathogenic