MCID: BRS071
MIFTS: 46

Breast-Ovarian Cancer, Familial, 1 malady

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

Summaries for Breast-Ovarian Cancer, Familial, 1

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MalaCards based summary: Breast-Ovarian Cancer, Familial, 1, also known as hereditary breast and ovarian cancer syndrome, is related to ovarian cancer and brca1 and brca2 hereditary breast and ovarian cancer, and has symptoms including autosomal dominant inheritance, multifactorial inheritance and breast carcinoma. An important gene associated with Breast-Ovarian Cancer, Familial, 1 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 8-oxoguanine and daidzein have been mentioned in the context of this disorder. Affiliated tissues include breast and ovary, and related mouse phenotypes are limbs/digits/tail and endocrine/exocrine gland.

Descriptions from OMIM:46 604370,612555,613399,614291

Aliases & Classifications for Breast-Ovarian Cancer, Familial, 1

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Sources:
46OMIM, 48Orphanet, 27ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Breast-Ovarian Cancer, Familial, 1, Aliases & Descriptions:

Name: Breast-Ovarian Cancer, Familial, 1 46
 
Hereditary Breast and Ovarian Cancer Syndrome 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
hereditary breast and ovarian cancer syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-5/10000; Age of onset: Variable


External Ids:

ICD10 via Orphanet27 C50, C56
UMLS via Orphanet62 C0677776

Related Diseases for Breast-Ovarian Cancer, Familial, 1

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Diseases in the Breast-Ovarian Cancer, Familial, 1 family:

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

Diseases related to Breast-Ovarian Cancer, Familial, 1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 32)
idRelated DiseaseScoreTop Affiliating Genes
1ovarian cancer29.0BARD1, NBN, PTEN, RAD51C, RAD51, CHEK2
2brca1 and brca2 hereditary breast and ovarian cancer10.4BRCA2, BRCA1
3fallopian tube cancer10.4BRCA2, BRCA1
4peritoneal carcinoma10.4BRCA1, BRCA2
5male breast cancer10.4BRCA2, BRCA1
6dysgerminoma10.3BRCA2, BRCA1
7lynch syndrome10.3BRCA1, BRCA2
8gynecomastia10.3BRCA1, BRCA2
9ductal carcinoma in situ10.3BRCA1, BRCA2
10bloom syndrome10.2BRCA2, BRCA1, RAD51
11pancreatic cancer10.2BRCA2, BRCA1, RAD51
12early-onset ataxia with oculomotor apraxia and hypoalbuminemia10.1MRE11A, NBN
13familial colorectal cancer10.1PTEN, BRCA2, BRCA1
14cowden disease10.1BRCA1, BRCA2, PTEN
15li-fraumeni syndrome10.1BRCA1, BRCA2
16fanconi's anemia10.1PALB2, BRCA2, BRIP1
17bilateral breast cancer10.1BRCA2, BRCA1, CHEK2, RAD51
18peutz-jeghers syndrome10.0BRCA2, PTEN
19werner syndrome10.0BRCA1, NBN, MRE11A
20microcephaly10.0MRE11A, NBN, RAD50
21endometrial carcinoma10.0PTEN, BRCA2, BRCA1
22aplastic anemia9.9NBN, BRCA2, BRCA1, PALB2, RAD51
23leukemia9.9RAD51, CHEK2, BRCA1, BRCA2, NBN
24stomach cancer9.9CHEK2, BRCA1, BRCA2, PTEN
25melanoma9.8CHEK2, BRCA2, PTEN, NBN
26colonic benign neoplasm9.8RAD51, CHEK2, BRCA1, BRCA2, PTEN
27nijmegen breakage syndrome9.7MRE11A, NBN, BRCA1, CHEK2, RAD50
28prostate cancer9.7PTEN, BRCA2, BRCA1, CHEK2, RAD51
29breast cancer9.7NBN, PTEN, BRCA2, BRCA1, CHEK2, RAD51
30ataxia telangiectasia9.5MRE11A, NBN, BRCA2, BRCA1, CHEK2, RAD51
31adenocarcinoma9.4RAD51, CHEK2, BRCA1, BRCA2, PTEN, MRE11A
32colorectal cancer9.3MRE11A, NBN, PTEN, BRCA2, BRCA1, CHEK2

Graphical network of the top 20 diseases related to Breast-Ovarian Cancer, Familial, 1:



Diseases related to breast-ovarian cancer, familial, 1

Symptoms for Breast-Ovarian Cancer, Familial, 1

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Symptoms by clinical synopsis from OMIM:

604370

Clinical features from OMIM:

604370,612555,613399,614291

HPO human phenotypes related to Breast-Ovarian Cancer, Familial, 1:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 multifactorial inheritance HP:0001426
3 breast carcinoma HP:0003002

Drugs & Therapeutics for Breast-Ovarian Cancer, Familial, 1

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Drug clinical trials:

Search ClinicalTrials for Breast-Ovarian Cancer, Familial, 1

Search NIH Clinical Center for Breast-Ovarian Cancer, Familial, 1

Genetic Tests for Breast-Ovarian Cancer, Familial, 1

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Anatomical Context for Breast-Ovarian Cancer, Familial, 1

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MalaCards organs/tissues related to Breast-Ovarian Cancer, Familial, 1:

32
Breast, Ovary

Animal Models for Breast-Ovarian Cancer, Familial, 1 or affiliated genes

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Publications for Breast-Ovarian Cancer, Familial, 1

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Variations for Breast-Ovarian Cancer, Familial, 1

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UniProtKB/Swiss-Prot genetic disease variations for Breast-Ovarian Cancer, Familial, 1:

63
id Symbol AA change Variation ID SNP ID
1BRCA1p.Glu10LysVAR_020679
2BRCA1p.Glu23LysVAR_020680
3BRCA1p.Ser1187IleVAR_020690
4BRCA1p.Gln1200HisVAR_020691rs56214134
5BRCA1p.Ser1217TyrVAR_020695
6BRCA1p.Phe1226LeuVAR_020696
7BRCA1p.Arg1243GlyVAR_020697

Clinvar genetic disease variations for Breast-Ovarian Cancer, Familial, 1:

7 (show all 1,980)
id Gene Name 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.3044dupG (p.Asn1016Lysfs)duplicationPathogenicrs80357746GRCh37Chr 17, 41244503: 41244504
85BRCA1NM_007294.3(BRCA1): c.3053_3054insTGAGA (p.Ile1019Glufs)insertionPathogenicrs80357547GRCh38Chr 17, 43092477: 43092478
86BRCA1NM_007294.3(BRCA1): c.3100_3101insTAACATTAGAGAAA (p.Asn1034Ilefs)insertionPathogenicrs80357967GRCh37Chr 17, 41244447: 41244448
87BRCA1NM_007294.3(BRCA1): c.3105dupT (p.Lys1037Terfs)duplicationPathogenicrs273899699GRCh38Chr 17, 43092426: 43092427
88BRCA1NM_007294.3(BRCA1): c.204dupA (p.Thr69Asnfs)duplicationPathogenicrs273898673GRCh37Chr 17, 41258481: 41258482
89BRCA1NM_007294.3(BRCA1): c.3114_3117delAGCCinsGA (p.Ala1039Lysfs)indelPathogenicrs273899700GRCh37Chr 17, 41244430: 41244434
90BRCA1U14680.1: n.3235_3238delCAGCdeletionPathogenic
91BRCA1NM_007294.3(BRCA1): c.3158_3159insG (p.Val1054Serfs)insertionPathogenicrs80357769GRCh38Chr 17, 43092372: 43092373
92BRCA1U14680.1: n.331+1G> A,del22deletionPathogenic
93BRCA1NM_007294.3(BRCA1): c.3194_3195insG (p.Asp1065Glufs)insertionPathogenicrs80357883GRCh37Chr 17, 41244353: 41244354
94BRCA1NM_007294.3(BRCA1): c.213-3C> Gsingle nucleotide variantPathogenicrs80358119GRCh37Chr 17, 41256976: 41256976
95BRCA1NM_007294.3(BRCA1): c.3256_3257insGA (p.Leu1086Terfs)insertionPathogenicrs80357764GRCh38Chr 17, 43092274: 43092275
96BRCA1NM_007294.3: c.3288_3289ins46insertionPathogenicGRCh38Chr 17, 43092242: 43092243
97BRCA1NM_007294.3(BRCA1): c.3320_3323delAAAT (p.Ile1108Lysfs)deletionPathogenicrs80357763GRCh37Chr 17, 41244225: 41244228
98BRCA1NM_007294.3(BRCA1): c.3328_3331delAAGC (p.Gln1111Asnfs)deletionPathogenicrs80357777GRCh37Chr 17, 41244217: 41244220
99BRCA1NM_007294.3(BRCA1): c.3329_3332delAGCA (p.Gln1111Asnfs)deletionPathogenicrs80357701GRCh38Chr 17, 43092199: 43092202
100BRCA1NM_007294.3(BRCA1): c.3330_3331insA (p.Gln1111Thrfs)insertionPathogenicrs80357996GRCh38Chr 17, 43092200: 43092201
101BRCA1NM_007294.3(BRCA1): c.3351dupT (p.Gln1118Serfs)duplicationPathogenicrs80357785GRCh37Chr 17, 41244196: 41244197
102BRCA1NM_007294.3(BRCA1): c.3357delT (p.Val1120Leufs)deletionPathogenicrs80357827GRCh37Chr 17, 41244191: 41244191
103BRCA1NM_007294.3(BRCA1): c.3462dupA (p.Asp1155Argfs)duplicationPathogenicrs80357857GRCh38Chr 17, 43092068: 43092069
104BRCA1NM_007294.3(BRCA1): c.3479_3489delAGGAAGATACT (p.Glu1161Phefs)deletionPathogenicrs80357910GRCh38Chr 17, 43092042: 43092052
105BRCA1NM_007294.3: c.3516_3517ins100insertionPathogenicGRCh38Chr 17, 43092014: 43092015
106BRCA1NM_007294.3(BRCA1): c.3548_3549delAA (p.Lys1183Argfs)deletionPathogenicrs80357956GRCh38Chr 17, 43091982: 43091983
107BRCA1NM_007294.3: c.3571_3572ins4insertionPathogenicGRCh37Chr 17, 41243976: 41243977
108BRCA1NM_007294.3(BRCA1): c.3581delC (p.His1195Ilefs)deletionPathogenicrs273900710GRCh37Chr 17, 41243967: 41243967
109BRCA1U14680.1: n.3702delAdeletionPathogenic
110BRCA1NM_007294.3(BRCA1): c.3593_3594insTT (p.Leu1198Phefs)insertionPathogenicrs80357562GRCh38Chr 17, 43091937: 43091938
111BRCA1NM_007294.3(BRCA1): c.3620dupA (p.Lys1208Glufs)duplicationPathogenicrs80357926GRCh38Chr 17, 43091910: 43091911
112BRCA1NM_007294.3(BRCA1): c.3623dupA (p.Leu1209Ilefs)duplicationPathogenicrs80357512GRCh38Chr 17, 43091908: 43091909
113BRCA1NM_007294.3(BRCA1): c.3649_3650insA (p.Ser1217Tyrfs)insertionPathogenicrs80357831GRCh38Chr 17, 43091881: 43091882
114BRCA1NM_007294.3(BRCA1): c.3755_3758delTGTC (p.Ser1253Argfs)deletionPathogenicrs80357963GRCh38Chr 17, 43091773: 43091776
115BRCA1NM_007294.3(BRCA1): c.3761_3762delAG (p.Asn1255Hisfs)deletionPathogenicrs80357645GRCh38Chr 17, 43091769: 43091770
116BRCA1NM_007294.3(BRCA1): c.3766dupA (p.Thr1256Asnfs)duplicationPathogenicrs80357704GRCh38Chr 17, 43091764: 43091765
117BRCA1NM_007294.3(BRCA1): c.3771_3772delGG (p.Asn1259Phefs)deletionPathogenicrs80357810GRCh38Chr 17, 43091759: 43091760
118BRCA1NM_007294.3(BRCA1): c.3777delT (p.Leu1260Tyrfs)deletionPathogenicrs80357798GRCh38Chr 17, 43091754: 43091754
119BRCA1NM_007294.3(BRCA1): c.3778_3779insA (p.Leu1260Tyrfs)insertionPathogenicrs80357849GRCh38Chr 17, 43091752: 43091753
120BRCA1NM_007294.3(BRCA1): c.3830dupC (p.Ala1279Glyfs)duplicationPathogenicrs80357878GRCh38Chr 17, 43091700: 43091701
121BRCA1NM_007294.3(BRCA1): c.3856_3859delAGTG (p.Ser1286Argfs)deletionPathogenicrs80357842GRCh37Chr 17, 41243689: 41243692
122BRCA1NM_007294.3(BRCA1): c.3867_3871delAAAAT (p.Lys1290Phefs)deletionPathogenicrs80357560GRCh38Chr 17, 43091660: 43091664
123BRCA1NM_007294.3(BRCA1): c.3908dupT (p.Leu1303Phefs)duplicationPathogenicrs80357634GRCh37Chr 17, 41243639: 41243640
124BRCA1NM_007294.3: c.288_292delCACAGins7indelPathogenicGRCh37Chr 17, 41256894: 41256898
125BRCA1NM_007294.3: c.301+2_301+3insTinsertionPathogenicrs273899694GRCh38Chr 17, 43104865: 43104866
126BRCA1NM_007294.3(BRCA1): c.302-1G> Tsingle nucleotide variantPathogenicrs80358116GRCh38Chr 17, 43104262: 43104262
127BRCA1NM_007294.3(BRCA1): c.302-2A> Tsingle nucleotide variantPathogenicrs80358011GRCh37Chr 17, 41256280: 41256280
128BRCA1NM_007294.3: c.302-2_302-1delAGdeletionPathogenicGRCh38Chr 17, 43104262: 43104263
129BRCA1NM_007294.3(BRCA1): c.4110_4111delTG (p.Gly1371Valfs)deletionPathogenicrs80357529GRCh37Chr 17, 41243035: 41243036
130BRCA1NM_007294.3(BRCA1): c.4111_4112insATCT (p.Gly1371Aspfs)insertionPathogenicrs80357935GRCh38Chr 17, 43091017: 43091018
131BRCA1NM_007294.3(BRCA1): c.4113delG (p.Cys1372Valfs)deletionPathogenicrs80357861GRCh37Chr 17, 41243033: 41243033
132BRCA1NM_007294.3(BRCA1): c.4128_4129delAA (p.Ser1377Argfs)deletionPathogenicrs80357921GRCh38Chr 17, 43091000: 43091001
133BRCA1NM_007294.3(BRCA1): c.4163dupA (p.Ser1389Glufs)duplicationPathogenicrs80357788GRCh37Chr 17, 41242982: 41242983
134BRCA1NM_007294.3(BRCA1): c.4167_4168insAG (p.Asp1390Argfs)insertionPathogenicrs80357847GRCh37Chr 17, 41242978: 41242979
135BRCA1U14680.1: n.4304+2_4304+22del21insAinsertionPathogenic
136BRCA1U14680.1: n.4305-1643_del3835deletionPathogenic
137BRCA1NM_007294.3(BRCA1): c.4214delT (p.Ile1405Lysfs)deletionPathogenicrs273900728GRCh38Chr 17, 43082547: 43082547
138BRCA1NM_007294.3(BRCA1): c.4285_4286insG (p.Tyr1429Terfs)insertionPathogenicrs80357716GRCh38Chr 17, 43082475: 43082476
139BRCA1NM_007294.3(BRCA1): c.4289dupC (p.Ser1431Phefs)duplicationPathogenicrs80357556GRCh37Chr 17, 41234488: 41234489
140BRCA1NM_007294.3: c.4338_4339ins4insertionPathogenicrs397509164GRCh38Chr 17, 43082422: 43082423
141BRCA1NM_007294.3(BRCA1): c.4372_4388del17 (p.Gln1458Profs)deletionPathogenicrs80359885GRCh38Chr 17, 43076584: 43076600
142BRCA1NM_007294.3(BRCA1): c.4463dupA (p.Asn1488Lysfs)duplicationPathogenicrs80357620GRCh38Chr 17, 43076508: 43076509
143BRCA1NM_007294.3(BRCA1): c.4594_4595insTC (p.Asp1533Leufs)insertionPathogenicrs80357826GRCh38Chr 17, 43074411: 43074412
144BRCA1NM_007294.3: c.4644_4645ins8insertionPathogenicGRCh37Chr 17, 41226378: 41226379
145BRCA1NM_007294.3(BRCA1): c.4675+3A> Tsingle nucleotide variantPathogenicrs80358082GRCh37Chr 17, 41226345: 41226345
146BRCA1NM_007294.3(BRCA1): c.4676-1G> Asingle nucleotide variantPathogenicrs80358008GRCh37Chr 17, 41223256: 41223256
147BRCA1NM_007294.3(BRCA1): c.4676-2A> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs80358096GRCh37Chr 17, 41223257: 41223257
148BRCA1NM_007294.3(BRCA1): c.4696_4697insA (p.Ser1566Tyrfs)insertionPathogenicGRCh37Chr 17, 41223234: 41223235
149BRCA1NM_007294.3(BRCA1): c.4764_4765delTC (p.Arg1589Cysfs)deletionPathogenicrs80357795GRCh37Chr 17, 41223166: 41223167
150BRCA1NM_007294.3(BRCA1): c.4843dupG (p.Ala1615Glyfs)duplicationPathogenicrs80357615GRCh37Chr 17, 41223087: 41223088
151BRCA1NM_007294.3(BRCA1): c.4891dupA (p.Ser1631Lysfs)duplicationPathogenicrs80357656GRCh37Chr 17, 41223039: 41223040
152BRCA1NM_007294.3(BRCA1): c.4933_4934insAA (p.Arg1645Lysfs)insertionPathogenicrs80357833GRCh37Chr 17, 41222997: 41222998
153BRCA1NM_007294.3(BRCA1): c.4934delG (p.Val1646Serfs)deletionPathogenicrs80357653GRCh38Chr 17, 43070980: 43070980
154BRCA1NM_007294.3(BRCA1): c.4942delA (p.Arg1649Glufs)deletionPathogenicrs80357761GRCh38Chr 17, 43070972: 43070972
155BRCA1NM_007294.3(BRCA1): c.4944_4945delAA (p.Arg1649Asnfs)deletionPathogenicrs80357655GRCh37Chr 17, 41222986: 41222987
156BRCA1NM_007294.3(BRCA1): c.4986+1G> Asingle nucleotide variantPathogenicrs80358162GRCh38Chr 17, 43070927: 43070927
157BRCA1U14680.1: n.5106-1A> Gsingle nucleotide variantPathogenic
158BRCA1NM_007294.3: c.5007_5008ins13insertionPathogenicGRCh38Chr 17, 43067674: 43067675
159BRCA1NM_007294.3(BRCA1): c.5027_5030delTAAC (p.Thr1677Ilefs)deletionPathogenicrs80357580GRCh37Chr 17, 41219669: 41219672
160BRCA1NM_007294.3(BRCA1): c.5028_5031delAACT (p.Thr1677Ilefs)deletionPathogenicrs80357924GRCh38Chr 17, 43067651: 43067654
161BRCA1NM_007294.3: c.5033_5034ins4insertionPathogenicGRCh38Chr 17, 43067648: 43067649
162BRCA1NM_007294.3(BRCA1): c.5056dupC (p.His1686Profs)duplicationPathogenicrs80357974GRCh38Chr 17, 43067625: 43067626
163BRCA1NM_007294.3(BRCA1): c.398_399delGT (p.Ala134Glnfs)deletionPathogenicrs80357568GRCh38Chr 17, 43104164: 43104165
164BRCA1NM_007294.3(BRCA1): c.5075-1G> Csingle nucleotide variantPathogenicrs1800747GRCh38Chr 17, 43063952: 43063952
165BRCA1NM_007294.3(BRCA1): c.5098delA (p.Thr1700Hisfs)deletionPathogenicGRCh38Chr 17, 43063928: 43063928
166BRCA1NM_007294.3(BRCA1): c.5145delC (p.Tyr1716Ilefs)deletionPathogenicrs80357870GRCh38Chr 17, 43063881: 43063881
167BRCA1U14680.1: n.5271+1G> Asingle nucleotide variantPathogenic
168BRCA1U14680.1: n.5271+3_5271+4insTinsertionPathogenic
169BRCA1U14680.1: n.5272-2delAdeletionPathogenic
170BRCA1NM_007294.3(BRCA1): c.5173_5176delGAAA (p.Arg1726Lysfs)deletionPathogenicrs80357867GRCh37Chr 17, 41215367: 41215370
171BRCA1U14680.1: n.5312+1G> Csingle nucleotide variantPathogenic
172BRCA1U14680.1: n.5312+2delTdeletionPathogenic
173BRCA1U14680.1: n.5312+3_del13deletionPathogenic
174BRCA1U14680.1: n.5313-1G> Asingle nucleotide variantPathogenicrs80358173GRCh37Chr 17, 41209153: 41209153
175BRCA1NM_007294.3(BRCA1): c.5241delA (p.Gly1748Valfs)deletionPathogenicrs80357791GRCh38Chr 17, 43057088: 43057088
176BRCA1U14680.1: n.5389_5395delCAGAAAGdeletionPathogenic
177BRCA1U14680.1: n.5396+1_del6deletionPathogenic
178BRCA1NM_007294.3(BRCA1): c.5286dupG (p.Leu1764Alafs)duplicationPathogenicrs80357886GRCh38Chr 17, 43051109: 43051110
179BRCA1NM_007294.3(BRCA1): c.5304delC (p.Tyr1769Metfs)deletionPathogenicrs80357959GRCh37Chr 17, 41203108: 41203108
180BRCA1NM_007294.3(BRCA1): c.5308delG (p.Phe1772Serfs)deletionPathogenicrs80357581GRCh38Chr 17, 43051087: 43051087
181BRCA1U14680.1: n.5430_5452del23deletionPathogenic
182BRCA1NM_007294.3(BRCA1): c.5332+2T> Asingle nucleotide variantPathogenicrs80358182GRCh38Chr 17, 43051061: 43051061
183BRCA1U14680.1: n.5452-36_del510deletionPathogenic
184BRCA1NM_007294.3(BRCA1): c.5352dupA (p.Gln1785Thrfs)duplicationPathogenicrs80357744GRCh37Chr 17, 41201191: 41201192
185BRCA1NM_007294.3(BRCA1): c.5370_5397del28 (p.Val1791Leufs)deletionPathogenicrs80359878GRCh38Chr 17, 43049130: 43049157
186BRCA1NM_007294.3(BRCA1): c.5384dupT (p.Ser1796Phefs)duplicationPathogenicrs80357838GRCh37Chr 17, 41201160: 41201161
187BRCA1U14680.1: n.5525+2delTdeletionPathogenic
188BRCA1NM_007294.3(BRCA1): c.5407-1G> Asingle nucleotide variantPathogenicrs80358029GRCh38Chr 17, 43047704: 43047704
189BRCA1NM_007294.3(BRCA1): c.5407-1G> Csingle nucleotide variantPathogenicrs80358029GRCh37Chr 17, 41199721: 41199721
190BRCA1NM_007294.3(BRCA1): c.5407-2A> Tsingle nucleotide variantPathogenicrs80358002GRCh37Chr 17, 41199722: 41199722
191BRCA1NM_007294.3(BRCA1): c.5418delA (p.Ile1807Leufs)deletionPathogenicrs80357934GRCh38Chr 17, 43047692: 43047692
192BRCA1NM_007294.3(BRCA1): c.5467+2T> Csingle nucleotide variantPathogenicrs80358009GRCh38Chr 17, 43047641: 43047641
193BRCA1NM_007294.3(BRCA1): c.5467+2T> Gsingle nucleotide variantPathogenicrs80358009GRCh38Chr 17, 43047641: 43047641
194BRCA1NM_007294.3(BRCA1): c.5468-1G> Asingle nucleotide variantPathogenicrs80358048GRCh37Chr 17, 41197820: 41197820
195BRCA1NM_007294.3(BRCA1): c.5468-40T> Asingle nucleotide variantPathogenicrs80358151GRCh38Chr 17, 43045842: 43045842
196BRCA1NM_007294.3(BRCA1): c.5490delA (p.Pro1831Leufs)deletionPathogenicrs80357976GRCh37Chr 17, 41197797: 41197797
197BRCA1NM_007294.3(BRCA1): c.442-2A> Csingle nucleotide variantPathogenicrs80358155GRCh38Chr 17, 43099882: 43099882
198BRCA1NM_007294.3(BRCA1): c.5498_5511delTGACCCGAGAGTGG (p.Val1833Glyfs)deletionPathogenicrs80359873GRCh37Chr 17, 41197776: 41197789
199BRCA1NM_007294.3(BRCA1): c.5510delG (p.Val1838Cysfs)deletionPathogenicrs80357839GRCh38Chr 17, 43045760: 43045760
200BRCA1L824Xsingle nucleotide variantPathogenic
201BRCA1NM_007294.3: c.5534_5539delACCAGTins20indelPathogenicGRCh37Chr 17, 41197748: 41197753
202BRCA1NM_007294.3(BRCA1): c.5563delAins6indelPathogenicGRCh38Chr 17, 43045707: 43045707
203BRCA1NM_007294.3(BRCA1): c.456_457delCA (p.Ser153Cysfs)deletionPathogenicrs80357882GRCh37Chr 17, 41251882: 41251883
204BRCA1NM_007294.3(BRCA1): c.464delA (p.Gln155Hisfs)deletionPathogenicGRCh38Chr 17, 43099858: 43099858
205BRCA1NM_007294.3(BRCA1): c.547+1G> Asingle nucleotide variantPathogenicrs80358030GRCh38Chr 17, 43099774: 43099774
206BRCA1NM_007294.3: c.625_626ins20insertionPathogenicGRCh38Chr 17, 43095890: 43095891
207BRCA1NM_007294.3(BRCA1): c.668dupA (p.Ala224Glyfs)duplicationPathogenicrs80357537GRCh38Chr 17, 43095847: 43095848
208BRCA1NM_007294.3(BRCA1): c.671-1G> Tsingle nucleotide variantLikely pathogenic, Pathogenicrs80358020GRCh38Chr 17, 43094861: 43094861
209BRCA1NM_007294.3(BRCA1): c.797_798delTT (p.Ser267Lysfs)deletionPathogenicrs80357789GRCh37Chr 17, 41246750: 41246751
210BRCA1NM_007294.3: c.807_808ins11insertionPathogenicGRCh38Chr 17, 43094723: 43094724
211BRCA1NM_007294.3(BRCA1): c.833_834insA (p.His279Serfs)insertionPathogenicGRCh37Chr 17, 41246714: 41246715
212BRCA1NM_007294.3(BRCA1): c.842_843insAG (p.Ser281Argfs)insertionPathogenicrs80357792GRCh38Chr 17, 43094688: 43094689
213BRCA1NM_007294.3: c.851_852ins7insertionPathogenicGRCh38Chr 17, 43094679: 43094680
214BRCA2BRCA2: exon 2 deletionundetermined variantPathogenic
215BRCA2NM_000059.3(BRCA2): c.775_776delAG (p.Glu260Serfs)deletionPathogenicrs80359677GRCh37Chr 13, 32905149: 32905150
216BRCA2NM_000059.3(BRCA2): c.891_899delAACAGTTGTinsGATACTTCAG (p.Thr298Ilefs)indelPathogenicrs276174914GRCh38Chr 13, 32332368: 32332377
217BRCA2NM_000059.3(BRCA2): c.995_996insG (p.Ile332Metfs)insertionPathogenicrs276174931GRCh37Chr 13, 32906610: 32906611
218BRCA2NM_000059.3(BRCA2): c.1190_1191insTTAG (p.Gln397Hisfs)insertionPathogenicrs80359266GRCh37Chr 13, 32906805: 32906806
219BRCA2NM_000059.3(BRCA2): c.1231delA (p.Ile411Tyrfs)deletionPathogenicrs80359269GRCh37Chr 13, 32906846: 32906846
220BRCA2NM_000059.3(BRCA2): c.1301_1304delAAAG (p.Lys437Ilefs)deletionPathogenicrs80359277GRCh37Chr 13, 32906916: 32906919
221BRCA2NM_000059.3(BRCA2): c.1309_1312delAAAG (p.Lys437Ilefs)deletionPathogenicrs80359279GRCh38Chr 13, 32332787: 32332790
222BRCA2NM_000059.3(BRCA2): c.1362dupA (p.Ser455Ilefs)duplicationPathogenicrs80359282GRCh38Chr 13, 32332840: 32332841
223BRCA2NM_000059.3(BRCA2): c.1408dupG (p.Glu470Glyfs)duplicationPathogenicrs80359284GRCh37Chr 13, 32907023: 32907024
224BRCA2NM_000059.3(BRCA2): c.1542dupG (p.Thr515Aspfs)duplicationPathogenicrs80359288GRCh37Chr 13, 32907156: 32907157
225BRCA2NM_000059.3(BRCA2): c.1608dupT (p.Glu537Terfs)duplicationPathogenicrs276174811GRCh38Chr 13, 32333085: 32333086
226BRCA2NM_000059.3(BRCA2): c.1648dupG (p.Glu550Glyfs)duplicationPathogenicrs80359296GRCh37Chr 13, 32907263: 32907264
227BRCA2NM_000059.3: c.1668_1671delTTTAins3indelPathogenicGRCh37Chr 13, 32907283: 32907286
228BRCA2NM_000059.3(BRCA2): c.1772_1775delTTTA (p.Ile591Metfs)deletionPathogenicrs80359304GRCh38Chr 13, 32333250: 32333253
229BRCA2U43746.1: n.2001_2004delTATTdeletionPathogenic
230BRCA2NM_000059.3(BRCA2): c.1794_1798delATCTT (p.Ser599Terfs)deletionPathogenicrs276174813GRCh38Chr 13, 32333272: 32333276
231BRCA2NM_000059.3(BRCA2): c.1807dupA (p.Ile605Asnfs)duplicationPathogenicrs80359306GRCh37Chr 13, 32907421: 32907422
232BRCA2NM_000059.3(BRCA2): c.1806delA (p.Ile605Tyrfs)deletionPathogenicrs80359307GRCh37Chr 13, 32907421: 32907421
233BRCA2NM_000059.3(BRCA2): c.1854_1855insA (p.Gln619Thrfs)insertionPathogenicrs80359313GRCh37Chr 13, 32907469: 32907470
234BRCA2NM_000059.3(BRCA2): c.2212dupT (p.Cys738Leufs)duplicationPathogenicrs80359325GRCh38Chr 13, 32336567: 32336568
235BRCA2NM_000059.3(BRCA2): c.37_38insT (p.Glu13Valfs)insertionPathogenicrs80359400GRCh38Chr 13, 32316497: 32316498
236BRCA2NM_000059.3(BRCA2): c.2439dupT (p.Pro814Serfs)duplicationPathogenicrs276174822GRCh37Chr 13, 32910931: 32910932
237BRCA2NM_000059.3(BRCA2): c.2526dupA (p.Ala843Serfs)duplicationPathogenicrs80359332GRCh38Chr 13, 32336881: 32336882
238BRCA2NM_000059.3(BRCA2): c.2583dupA (p.Asn863Lysfs)duplicationPathogenicrs80359335GRCh37Chr 13, 32911074: 32911075
239BRCA2NM_000059.3(BRCA2): c.2584_2590delAAAAATC (p.Asn863Lysfs)deletionPathogenicrs80359336GRCh37Chr 13, 32911076: 32911082
240BRCA2NM_000059.3(BRCA2): c.2595delA (p.Glu866Lysfs)deletionPathogenicGRCh38Chr 13, 32336950: 32336950
241BRCA2NM_000059.3(BRCA2): c.71_96del26 (p.Leu24Terfs)deletionPathogenicrs80359637GRCh37Chr 13, 32893217: 32893242
242BRCA2NM_000059.3(BRCA2): c.2806_2809delAAAC (p.Ala938Profs)deletionPathogenicrs80359351GRCh37Chr 13, 32911298: 32911301
243BRCA2NM_000059.3(BRCA2): c.2833_2834insTT (p.Lys945Ilefs)insertionPathogenicrs80359355GRCh37Chr 13, 32911325: 32911326
244BRCA2NM_000059.3(BRCA2): c.2842dupG (p.Val948Glyfs)duplicationPathogenicrs80359359GRCh38Chr 13, 32337197: 32337198
245BRCA2NM_000059.3(BRCA2): c.2930_2940delTGAATATAGAT (p.Leu977Terfs)deletionPathogenicrs80359364GRCh38Chr 13, 32337285: 32337295
246BRCA2NM_000059.3(BRCA2): c.2978G> A (p.Trp993Ter)single nucleotide variantPathogenicrs80358543GRCh37Chr 13, 32911470: 32911470
247BRCA2NM_000059.3(BRCA2): c.3067_3071delAACAT (p.Asn1023Terfs)deletionPathogenicrs80359369GRCh38Chr 13, 32337422: 32337426
248BRCA2U43746.1: n.3347_3348delAGdeletionPathogenic
249BRCA2NM_000059.3(BRCA2): c.106dupT (p.Ser36Phefs)duplicationPathogenicrs80359262GRCh37Chr 13, 32893252: 32893253
250BRCA2NM_000059.3(BRCA2): c.3192_3195delAATT (p.Asn1066Leufs)deletionPathogenicrs80359375GRCh38Chr 13, 32337547: 32337550
251BRCA2NM_000059.3: c.132_133ins8insertionPathogenicGRCh37Chr 13, 32893278: 32893279
252BRCA2NM_000059.3: c.3407_3408ins100insertionPathogenicGRCh38Chr 13, 32337762: 32337763
253BRCA2NM_000059.3(BRCA2): c.3454dupT (p.Leu1152Phefs)duplicationPathogenicrs80359385GRCh38Chr 13, 32337808: 32337809
254BRCA2NM_000059.3(BRCA2): c.3458delA (p.Lys1153Argfs)deletionPathogenicrs80359386GRCh37Chr 13, 32911950: 32911950
255BRCA2E49Xsingle nucleotide variantPathogenic
256BRCA2NM_000059.3(BRCA2): c.3598_3599delTG (p.Cys1200Terfs)deletionPathogenicrs80359391GRCh38Chr 13, 32337953: 32337954
257BRCA2U43746.1: n.384_385insAluinsertionPathogenic
258BRCA2U43746.1: n.3875_3876delGTdeletionPathogenic
259BRCA2NM_000059.3: c.3730_3734delATTGAins4indelPathogenicGRCh37Chr 13, 32912222: 32912226
260BRCA2NM_000059.3(BRCA2): c.4006_4007insA (p.Phe1336Tyrfs)insertionPathogenicrs80359419GRCh37Chr 13, 32912498: 32912499
261BRCA2NM_000059.3(BRCA2): c.4008_4009insCATC (p.Asp1337Hisfs)insertionPathogenicrs80359420GRCh37Chr 13, 32912500: 32912501
262BRCA2NM_000059.3(BRCA2): c.4014_4015insGG (p.Ser1339Glyfs)insertionPathogenicrs276174839GRCh37Chr 13, 32912506: 32912507
263BRCA2NM_000059.3(BRCA2): c.4048dupC (p.His1350Profs)duplicationPathogenicrs80359422GRCh38Chr 13, 32338403: 32338404
264BRCA2NM_000059.3(BRCA2): c.4131_4132insTGAGGA (p.Thr1378Ter)insertionPathogenicrs80359429GRCh37Chr 13, 32912623: 32912624
265BRCA2NM_000059.3(BRCA2): c.4138_4139insTT (p.Lys1381Leufs)insertionPathogenicrs276174842GRCh38Chr 13, 32338493: 32338494
266BRCA2NM_000059.3(BRCA2): c.4283dupT (p.Gln1429Serfs)duplicationPathogenicrs80359439GRCh37Chr 13, 32912774: 32912775
267BRCA2NM_000059.3(BRCA2): c.4454_4457delTAGT (p.Val1486Asnfs)deletionPathogenicrs80359449GRCh38Chr 13, 32338809: 32338812
268BRCA2NM_000059.3(BRCA2): c.4478dupA (p.Ser1494Lysfs)duplicationPathogenicrs80359453GRCh37Chr 13, 32912969: 32912970
269BRCA2NM_000059.3(BRCA2): c.4477_4480delGAAA (p.Glu1493Valfs)deletionPathogenicrs80359454GRCh38Chr 13, 32338832: 32338835
270BRCA2NM_000059.3(BRCA2): c.4563_4564delAT (p.Leu1522Glyfs)deletionPathogenicGRCh38Chr 13, 32338918: 32338919
271BRCA2U43746.1: n.489_490delCTdeletionPathogenic
272BRCA2NM_000059.3: c.4718_4719ins4insertionPathogenicGRCh37Chr 13, 32913210: 32913211
273BRCA2NM_000059.3(BRCA2): c.4809_4810insA (p.Leu1604Thrfs)insertionPathogenicrs80359467GRCh37Chr 13, 32913301: 32913302
274BRCA2NM_000059.3(BRCA2): c.4904dupT (p.Leu1635Phefs)duplicationPathogenicrs80359471GRCh37Chr 13, 32913396: 32913397
275BRCA2NM_000059.3(BRCA2): c.4965C> R (p.Tyr1655Ter)undetermined variantPathogenicrs80358721GRCh38Chr 13, 32339319: 32339320
276BRCA2NM_000059.3(BRCA2): c.4981_4982insG (p.Tyr1661Terfs)insertionPathogenicrs80359476GRCh38Chr 13, 32339336: 32339337
277BRCA2NM_000059.3(BRCA2): c.5068_5071delAAAA (p.Lys1690Asnfs)deletionPathogenicrs80359479GRCh37Chr 13, 32913560: 32913563
278BRCA2NM_000059.3(BRCA2): c.5074_5075insA (p.Trp1692Terfs)insertionPathogenicrs80359482GRCh37Chr 13, 32913566: 32913567
279BRCA2NM_000059.3(BRCA2): c.5129_5132delATGT (p.Tyr1710Terfs)deletionPathogenicrs80359484GRCh38Chr 13, 32339484: 32339487
280BRCA2NM_000059.3(BRCA2): c.5145_5148delGTAT (p.Tyr1716Lysfs)deletionPathogenicrs276174854GRCh38Chr 13, 32339500: 32339503
281BRCA2NM_000059.3(BRCA2): c.5222_5225delGTAA (p.Ser1741Thrfs)deletionPathogenicrs80359498GRCh38Chr 13, 32339577: 32339580
282BRCA2NM_000059.3(BRCA2): c.5239_5240insT (p.Asn1747Ilefs)insertionPathogenicrs80359500GRCh37Chr 13, 32913731: 32913732
283BRCA2NM_000059.3(BRCA2): c.5270_5286del17 (p.Tyr1757Serfs)deletionPathogenicrs80359502GRCh37Chr 13, 32913762: 32913778
284BRCA2NM_000059.3(BRCA2): c.5492dupT (p.Ser1832Ilefs)duplicationPathogenicrs80359517GRCh37Chr 13, 32913984: 32913985
285BRCA2NM_000059.3(BRCA2): c.5575_5578delATTA (p.Ile1859Lysfs)deletionPathogenicrs80359520GRCh37Chr 13, 32914067: 32914070
286BRCA2NM_000059.3(BRCA2): c.5655_5656insCC (p.Gln1886Profs)insertionPathogenicrs276174861GRCh38Chr 13, 32340010: 32340011
287BRCA2NM_000059.3(BRCA2): c.5718_5719delCT (p.Leu1908Argfs)deletionPathogenicrs80359530GRCh37Chr 13, 32914210: 32914211
288BRCA2NM_000059.3(BRCA2): c.5848_5851delGTTA (p.Ser1951Trpfs)deletionPathogenicrs80359543GRCh37Chr 13, 32914340: 32914343
289BRCA2NM_000059.3(BRCA2): c.5863delT (p.Ser1955Glnfs)deletionPathogenicrs80359546GRCh37Chr 13, 32914355: 32914355
290BRCA2NM_000059.3(BRCA2): c.5931dupT (p.Ser1979Terfs)duplicationPathogenicrs80359548GRCh37Chr 13, 32914422: 32914423
291BRCA2NM_000059.3(BRCA2): c.5953_5954delTC (p.Ser1985Cysfs)deletionPathogenicrs80359551GRCh37Chr 13, 32914445: 32914446
292BRCA2NM_000059.3(BRCA2): c.6098dupT (p.Arg2034Thrfs)duplicationPathogenicGRCh37Chr 13, 32914589: 32914590
293BRCA2NM_000059.3(BRCA2): c.6203_6204insA (p.Leu2069Phefs)insertionPathogenicrs80359566GRCh37Chr 13, 32914695: 32914696
294BRCA2U43746.1: n.6437delTdeletionPathogenic
295BRCA2NM_000059.3(BRCA2): c.6219dupA (p.His2074Thrfs)duplicationPathogenicrs80359568GRCh38Chr 13, 32340574: 32340575
296BRCA2NM_000059.3(BRCA2): c.6374_6375insA (p.Cys2126Leufs)insertionPathogenicrs80359579GRCh38Chr 13, 32340729: 32340730
297BRCA2NM_000059.3(BRCA2): c.6391_6392insT (p.Lys2131Ilefs)insertionPathogenicrs80359580GRCh37Chr 13, 32914883: 32914884
298BRCA2NM_000059.3(BRCA2): c.6402_6406delTAACT (p.Asn2135Lysfs)deletionPathogenicrs80359584GRCh37Chr 13, 32914894: 32914898
299BRCA2NM_000059.3(BRCA2): c.6462_6463delTC (p.Gln2157Ilefs)deletionPathogenicrs80359596GRCh37Chr 13, 32914954: 32914955
300BRCA2NM_000059.3: c.6535_6536ins8insertionPathogenicrs80359601GRCh37Chr 13, 32915027: 32915028
301BRCA2NM_000059.3(BRCA2): c.6535dupG (p.Val2179Glyfs)duplicationPathogenicrs80359601GRCh37Chr 13, 32915027: 32915028
302BRCA2NM_000059.3(BRCA2): c.6591delT (p.Glu2198Lysfs)deletionPathogenicrs80359606GRCh37Chr 13, 32915083: 32915083
303BRCA2NM_000059.3(BRCA2): c.6644_6648delACTCC (p.Tyr2215Terfs)deletionPathogenicrs80359616GRCh37Chr 13, 32915136: 32915140
304BRCA2NM_000059.3(BRCA2): c.6645C> G (p.Tyr2215Ter)single nucleotide variantPathogenicrs80358892GRCh38Chr 13, 32341000: 32341000
305BRCA2NM_000059.3(BRCA2): c.6658_6662delGAAAA (p.Glu2220Leufs)deletionPathogenicrs80359618GRCh37Chr 13, 32915150: 32915154
306BRCA2NM_000059.3(BRCA2): c.6829_6833delCTTAT (p.Ile2278Serfs)deletionPathogenicrs80359626GRCh37Chr 13, 32915321: 32915325
307BRCA2NM_000059.3(BRCA2): c.489_490insG (p.Leu164Valfs)insertionPathogenicrs120074205GRCh38Chr 13, 32326255: 32326256
308BRCA2NM_000059.3(BRCA2): c.7235_7236insG (p.Lys2413Terfs)insertionPathogenicGRCh37Chr 13, 32929225: 32929226
309BRCA2NM_000059.3(BRCA2): c.7283delT (p.Leu2428Trpfs)deletionPathogenicGRCh37Chr 13, 32929273: 32929273
310BRCA2NM_000059.3(BRCA2): c.7379_7380insG (p.Asn2460Lysfs)insertionPathogenicrs80359647GRCh37Chr 13, 32929369: 32929370
311BRCA2NM_000059.3(BRCA2): c.7469dupT (p.Gln2491Thrfs)duplicationPathogenicGRCh38Chr 13, 32356460: 32356461
312BRCA2NM_000059.3(BRCA2): c.7595_7596insTT (p.Ala2534Leufs)insertionPathogenicrs80359666GRCh37Chr 13, 32930724: 32930725
313BRCA2NM_000059.3(BRCA2): c.7596_7609delCTCTGCGTGTTCTC (p.Ser2533Terfs)deletionPathogenicrs80359667GRCh37Chr 13, 32930725: 32930738
314BRCA2U43746.1: n.7829+1G> Asingle nucleotide variantPathogenic
315BRCA2U43746.1: n.7829+1G> Tsingle nucleotide variantPathogenic
316BRCA2U43746.1: n.7829+2T> Gsingle nucleotide variantPathogenic
317BRCA2U43746.1: n.7830-1G> Asingle nucleotide variantPathogenic
318BRCA2NM_000059.3(BRCA2): c.7627dupT (p.Tyr2543Leufs)duplicationPathogenicrs80359668GRCh37Chr 13, 32931888: 32931889
319BRCA2NM_000059.3: c.7662_7663ins37insertionPathogenicGRCh37Chr 13, 32931923: 32931924
320BRCA2NM_000059.3(BRCA2): c.7719dupA (p.Trp2574Metfs)duplicationPathogenicrs80359676GRCh37Chr 13, 32931980: 32931981
321BRCA2NM_000059.3(BRCA2): c.7791dupA (p.Glu2598Argfs)duplicationPathogenicrs80359681GRCh37Chr 13, 32932052: 32932053
322BRCA2NM_000059.3(BRCA2): c.7819_7820insGACA (p.Thr2607Argfs)insertionPathogenicrs80359684GRCh37Chr 13, 32936673: 32936674
323BRCA2NM_000059.3(BRCA2): c.7910_7914delCCTTT (p.Phe2638Terfs)deletionPathogenicrs80359686GRCh37Chr 13, 32936764: 32936768
324BRCA2NM_000059.3(BRCA2): c.7921_7926delGAATTTinsAG (p.Glu2641Argfs)indelPathogenicrs276174897GRCh37Chr 13, 32936774: 32936780
325BRCA2NM_000059.3(BRCA2): c.7977-1G> Tsingle nucleotide variantPathogenicrs81002874GRCh38Chr 13, 32363178: 32363178
326BRCA2NM_000059.3(BRCA2): c.8010_8032del23 (p.Ala2671Glyfs)deletionPathogenicrs80359690GRCh37Chr 13, 32937349: 32937371
327BRCA2U43746.1: n.8397dupTGGGduplicationPathogenic
328BRCA2NM_000059.3(BRCA2): c.8208_8209insAG (p.Leu2737Serfs)insertionPathogenicGRCh37Chr 13, 32937547: 32937548
329BRCA2NM_000059.3(BRCA2): c.8219dupT (p.Leu2740Phefs)duplicationPathogenicrs80359697GRCh37Chr 13, 32937558: 32937559
330BRCA2NM_000059.3(BRCA2): c.8246_8247delAG (p.Lys2750Aspfs)deletionPathogenicrs80359701GRCh37Chr 13, 32937585: 32937586
331BRCA2NM_000059.3: c.8278_8279ins71insertionPathogenicGRCh37Chr 13, 32937617: 32937618
332BRCA2NM_000059.3(BRCA2): c.8323dupA (p.Met2775Asnfs)duplicationPathogenicrs276174904GRCh37Chr 13, 32937662: 32937663
333BRCA2U43746.1: n.8560_8860del301deletionPathogenic
334BRCA2NM_000059.3: c.8483_8484ins11insertionPathogenicGRCh37Chr 13, 32944690: 32944691
335BRCA2NM_000059.3(BRCA2): c.8533_8534delAG (p.Glu2846Glyfs)deletionPathogenicrs80359714GRCh37Chr 13, 32945138: 32945139
336BRCA2NM_000059.3(BRCA2): c.8578_8579delAA (p.Lys2860Glufs)deletionPathogenicrs80359719GRCh37Chr 13, 32945183: 32945184
337BRCA2U43746.1: n.886_887delGCdeletionPathogenic
338BRCA2NM_000059.3(BRCA2): c.8748_8749insTTAC (p.Glu2918Profs)insertionPathogenicrs80359727GRCh37Chr 13, 32950922: 32950923
339BRCA2NM_000059.3: c.8800_8801ins346insertionPathogenicGRCh37Chr 13, 32953499: 32953500
340BRCA2U43746.1: n.9176_9186del11deletionPathogenic
341BRCA2NM_000059.3(BRCA2): c.8954-1del3insAAindelPathogenicGRCh38Chr 13, 32379749: 32379749
342BRCA2NM_000059.3(BRCA2): c.9015_9016delAT (p.Tyr3006Glnfs)deletionPathogenicrs80359739GRCh38Chr 13, 32379811: 32379812
343BRCA2U43746.1: n.9279+1G> Asingle nucleotide variantPathogenic
344BRCA2NM_000059.3(BRCA2): c.9066_9067insAA (p.Ala3023Lysfs)insertionPathogenicrs80359745GRCh37Chr 13, 32953999: 32954000
345BRCA2NM_000059.3(BRCA2): c.9098dupC (p.Gln3034Serfs)duplicationPathogenicrs80359747GRCh38Chr 13, 32379894: 32379895
346BRCA2U43746.1: n.9476_9491del16deletionPathogenic
347BRCA2NM_000059.3: c.9330_9334delTGAGGins3indelPathogenicGRCh37Chr 13, 32968899: 32968903
348BRCA2NM_000059.3(BRCA2): c.9384_9385insG (p.Pro3129Alafs)insertionPathogenicrs80359758GRCh37Chr 13, 32968953: 32968954
349BRCA2NM_000059.3(BRCA2): c.9456_9457insAG (p.Gly3153Argfs)insertionPathogenicrs80359765GRCh38Chr 13, 32394888: 32394889
350BRCA2NM_000059.3(BRCA2): c.767_771delCAAAT (p.Asn257Lysfs)deletionPathogenicrs80359671GRCh37Chr 13, 32905141: 32905145
351BRCA1NM_007294.3(BRCA1): c.190T> G (p.Cys64Gly)single nucleotide variantPathogenicrs80357064GRCh37Chr 17, 41258495: 41258495
352BRCA1NM_007294.3(BRCA1): c.181T> G (p.Cys61Gly)single nucleotide variantPathogenicrs28897672GRCh37Chr 17, 41258504: 41258504
353BRCA1NM_007294.3(BRCA1): c.68_69delAG (p.Glu23Valfs)deletionPathogenic, risk factorrs80357713GRCh37Chr 17, 41276047: 41276048
354BRCA1BRCA1, 59-BP INSinsertionPathogenic
355BRCA1NM_007294.3(BRCA1): c.1011dupA (p.Val340Glyfs)duplicationPathogenicrs80357563GRCh37Chr 17, 41246537: 41246538
356BRCA1NM_007294.3(BRCA1): c.1175_1214del40 (p.Leu392Glnfs)deletionLikely pathogenic, Pathogenicrs80359874GRCh37Chr 17, 41246334: 41246373
357BRCA1NM_007294.3(BRCA1): c.2296_2297delAG (p.Ser766Terfs)deletionPathogenicrs80357780GRCh37Chr 17, 41245251: 41245252
358BRCA1NM_007294.3(BRCA1): c.2681_2682delAA (p.Lys894Thrfs)deletionPathogenicrs80357971GRCh37Chr 17, 41244866: 41244867
359BRCA1NM_007294.3(BRCA1): c.2743_2744delTC (p.Ser915Terfs)deletionPathogenicrs80357540GRCh37Chr 17, 41244804: 41244805
360BRCA1NM_007294.3(BRCA1): c.3005delA (p.Asn1002Thrfs)deletionPathogenicrs80357601GRCh38Chr 17, 43092526: 43092526
361BRCA1NM_007294.3(BRCA1): c.3607C> T (p.Arg1203Ter)single nucleotide variantPathogenicrs62625308GRCh37Chr 17, 41243941: 41243941
362BRCA1NM_007294.3(BRCA1): c.3748G> T (p.Glu1250Ter)single nucleotide variantPathogenicrs28897686GRCh37Chr 17, 41243800: 41243800
363BRCA1NM_007294.3(BRCA1): c.3756_3759delGTCT (p.Ser1253Argfs)deletionPathogenicrs80357868GRCh37Chr 17, 41243789: 41243792
364BRCA1NM_007294.3(BRCA1): c.4065_4068delTCAA (p.Asn1355Lysfs)deletionPathogenicrs80357508GRCh37Chr 17, 41243480: 41243483
365BRCA1NM_007294.3(BRCA1): c.4327C> T (p.Arg1443Ter)single nucleotide variantPathogenicrs41293455GRCh37Chr 17, 41234451: 41234451
366BRCA1NM_007294.3(BRCA1): c.5266dupC (p.Gln1756Profs)duplicationPathogenic, risk factorrs80357906GRCh37Chr 17, 41209083: 41209083
367BRCA1NM_007294.3(BRCA1): c.4966_4984del19 (p.Gly1656Leufs)deletionPathogenicrs80359884GRCh37Chr 17, 41222947: 41222965
368BRCA1NM_007294.3(BRCA1): c.2389G> T (p.Glu797Ter)single nucleotide variantPathogenicrs62625306GRCh37Chr 17, 41245159: 41245159
369BRCA1NM_007294.3(BRCA1): c.843_846delCTCA (p.Ser282Tyrfs)deletionPathogenicrs80357919GRCh37Chr 17, 41246702: 41246705
370BRCA1NM_007294.3(BRCA1): c.3481_3491delGAAGATACTAG (p.Glu1161Phefs)deletionPathogenicrs80357877GRCh37Chr 17, 41244057: 41244067
371BRCA1NM_007294.3(BRCA1): c.1556delA (p.Lys519Argfs)deletionPathogenicrs80357662GRCh37Chr 17, 41245992: 41245992
372BRCA1NM_007294.3(BRCA1): c.3769_3770delGA (p.Glu1257Glyfs)deletionPathogenicrs80357579GRCh37Chr 17, 41243778: 41243779
373BRCA1BRCA1, 1-BP DEL, 4153AdeletionPathogenic
374BRCA1BRCA1, 16-KB INS, EX13insertionPathogenic
375BRCA1NM_007294.3(BRCA1): c.3625delT (p.Leu1209Terfs)deletionPathogenicrs387906564GRCh37Chr 17, 41243923: 41243923
376BRCA1NM_007294.3(BRCA1): c.211A> G (p.Arg71Gly)single nucleotide variantPathogenicrs80357382GRCh37Chr 17, 41258474: 41258474
377BRCA1NM_007294.3(BRCA1): c.5324T> G (p.Met1775Arg)single nucleotide variantPathogenicrs41293463GRCh37Chr 17, 41203088: 41203088
378BRCA1NM_007294.3(BRCA1): c.5324T> A (p.Met1775Lys)single nucleotide variantLikely pathogenic, Pathogenicrs41293463GRCh37Chr 17, 41203088: 41203088
379RAD51DRAD51D, 1-BP DEL, 363Adeletionrisk factor
380RAD51DRAD51D, TRP268TERsingle nucleotide variantrisk factor
381NM_002878.3(RAD51D): c.556C> T (p.Arg186Ter)single nucleotide variantPathogenic, risk factorrs387906843GRCh37Chr 17, 33433425: 33433425
382RAD51DRAD51D, NT480, G-A, +1single nucleotide variantrisk factor
383RAD51DRAD51D, GLN115HISsingle nucleotide variantrisk factor
384NM_002878.3(RAD51D): c.757C> T (p.Arg253Ter)single nucleotide variantPathogenic, risk factorrs137886232GRCh37Chr 17, 33428366: 33428366
385RAD51CNM_058216.2(RAD51C): c.397C> T (p.Gln133Ter)single nucleotide variantrisk factorrs387907159GRCh37Chr 17, 56772543: 56772543
386RAD51CRAD51C, 1-BP DEL, 230Gdeletionrisk factor
387RAD51CRAD51C, 1-BP DEL, 93Gdeletionrisk factor
388RAD51CRAD51C, IVS5DS, G-A, +1single nucleotide variantrisk factor
389BRCA1NM_007294.3(BRCA1): c.1016delA (p.Lys339Argfs)deletionPathogenicrs80357618GRCh37Chr 17, 41246532: 41246532
390BRCA1NM_007294.3(BRCA1): c.1018delG (p.Val340Terfs)deletionPathogenicrs80357774GRCh37Chr 17, 41246530: 41246530
391BRCA1NM_007294.3(BRCA1): c.1121delC (p.Thr374Asnfs)deletionPathogenicrs80357612GRCh37Chr 17, 41246427: 41246427
392BRCA1NM_007294.3(BRCA1): c.116G> A (p.Cys39Tyr)single nucleotide variantPathogenicrs80357498GRCh37Chr 17, 41267761: 41267761
393BRCA1NM_007294.3(BRCA1): c.116G> T (p.Cys39Phe)single nucleotide variantPathogenicrs80357498GRCh37Chr 17, 41267761: 41267761
394BRCA1NM_007294.3(BRCA1): c.1175_1215del41 (p.Leu392Glnfs)deletionPathogenicrs397507180GRCh37Chr 17, 41246333: 41246373
395BRCA1NM_007294.3(BRCA1): c.1175_1216del42 (p.Leu392_Asn406delinsHis)deletionPathogenicrs397507181GRCh37Chr 17, 41246332: 41246373
396BRCA1NM_007294.3(BRCA1): c.1175_1217del43 (p.Leu393Profs)deletionPathogenicrs397507182GRCh37Chr 17, 41246331: 41246373
397BRCA1NM_007294.3(BRCA1): c.1175_1218del44 (p.Leu392Argfs)deletionPathogenicrs397507183GRCh37Chr 17, 41246330: 41246373
398BRCA1NM_007294.3(BRCA1): c.134+5G> Csingle nucleotide variantLikely pathogenicrs80358038GRCh37Chr 17, 41267738: 41267738
399BRCA1NM_007294.3(BRCA1): c.1340_1341insG (p.His448Serfs)insertionPathogenicrs80357597GRCh37Chr 17, 41246207: 41246208
400BRCA1NM_007294.3(BRCA1): c.135-1G> Tsingle nucleotide variantPathogenicrs80358158GRCh37Chr 17, 41258551: 41258551
401BRCA1NM_007294.3(BRCA1): c.1360_1361delAG (p.Ser454Terfs)deletionPathogenicrs80357969GRCh37Chr 17, 41246187: 41246188
402BRCA1NM_007294.3: c.1387_1390delAAAAins5indelPathogenicrs397508866GRCh37Chr 17, 41246158: 41246161
403BRCA1NM_007294.3(BRCA1): c.1389_1390delAAinsG (p.Thr464Profs)indelPathogenicrs273897659GRCh37Chr 17, 41246158: 41246159
404BRCA1NM_007294.3(BRCA1): c.143delT (p.Met48Serfs)deletionPathogenicrs80357637GRCh37Chr 17, 41258542: 41258542
405BRCA1NM_007294.3(BRCA1): c.1444_1447delATTA (p.Ile482Terfs)deletionPathogenicrs80357801GRCh37Chr 17, 41246101: 41246104
406BRCA1NM_007294.3(BRCA1): c.1480C> T (p.Gln494Ter)single nucleotide variantPathogenicrs80357010GRCh37Chr 17, 41246068: 41246068
407BRCA1NM_007294.3(BRCA1): c.1504_1508delTTAAA (p.Leu502Alafs)deletionPathogenicrs80357888GRCh37Chr 17, 41246040: 41246044
408BRCA1NM_007294.3(BRCA1): c.1510delC (p.Arg504Valfs)deletionPathogenicrs80357908GRCh37Chr 17, 41246038: 41246038
409BRCA1NM_007294.3(BRCA1): c.1674delA (p.Gly559Valfs)deletionPathogenicrs80357600GRCh37Chr 17, 41245874: 41245874
410BRCA1NM_007294.3(BRCA1): c.1687C> T (p.Gln563Ter)single nucleotide variantPathogenicrs80356898GRCh37Chr 17, 41245861: 41245861
411BRCA1NM_007294.3(BRCA1): c.1728dupA (p.Glu577Argfs)duplicationPathogenicrs397507192GRCh37Chr 17, 41245819: 41245820
412BRCA1NM_007294.3(BRCA1): c.1854delG (p.Arg618Serfs)deletionPathogenicrs397507193GRCh37Chr 17, 41245694: 41245694
413BRCA1NM_007294.3: c.1877_1878ins4insertionPathogenicGRCh37Chr 17, 41245670: 41245671
414BRCA1NM_007294.3(BRCA1): c.1921dupA (p.Ile641Asnfs)duplicationPathogenicrs397507194GRCh37Chr 17, 41245626: 41245627
415BRCA1NM_007294.3(BRCA1): c.1953_1956delGAAA (p.Lys653Serfs)deletionPathogenicrs80357526GRCh37Chr 17, 41245592: 41245595
416BRCA1NM_007294.3(BRCA1): c.1960A> T (p.Lys654Ter)single nucleotide variantPathogenicrs80357355GRCh37Chr 17, 41245588: 41245588
417BRCA1NM_007294.3(BRCA1): c.1961delA (p.Lys654Serfs)deletionPathogenicrs80357522GRCh37Chr 17, 41245587: 41245587
418BRCA1NM_007294.3(BRCA1): c.1972delA (p.Met658Cysfs)deletionPathogenicrs397507195GRCh37Chr 17, 41245576: 41245576
419BRCA1NM_007294.3(BRCA1): c.2071delA (p.Arg691Aspfs)deletionPathogenicrs80357688GRCh37Chr 17, 41245477: 41245477
420BRCA1NM_007294.3(BRCA1): c.2105dupT (p.Leu702Phefs)duplicationPathogenicrs80357880GRCh37Chr 17, 41245442: 41245443
421BRCA1NM_007294.3(BRCA1): c.212+1G> Asingle nucleotide variantPathogenicrs80358042GRCh37Chr 17, 41258472: 41258472
422BRCA1NM_007294.3: c.2125_2126ins3insertionPathogenicGRCh37Chr 17, 41245422: 41245423
423BRCA1NM_007294.3(BRCA1): c.213-11T> Gsingle nucleotide variantPathogenicrs80358061GRCh37Chr 17, 41256984: 41256984
424BRCA1NM_007294.3(BRCA1): c.213-12A> Gsingle nucleotide variantPathogenicrs80358163GRCh37Chr 17, 41256985: 41256985
425BRCA1NM_007294.3(BRCA1): c.2138C> G (p.Ser713Ter)single nucleotide variantPathogenicrs80357233GRCh37Chr 17, 41245410: 41245410
426BRCA1NM_007294.3(BRCA1): c.2158G> T (p.Glu720Ter)single nucleotide variantPathogenicrs80356875GRCh37Chr 17, 41245390: 41245390
427BRCA1NM_007294.3(BRCA1): c.2210_2211delCA (p.Thr737Serfs)deletionPathogenicrs80357654GRCh37Chr 17, 41245337: 41245338
428BRCA1NM_007294.3(BRCA1): c.2214_2215insTT (p.Lys739Leufs)insertionPathogenicrs397507197GRCh37Chr 17, 41245333: 41245334
429BRCA1NM_007294.3(BRCA1): c.2269delG (p.Val757Phefs)deletionPathogenicrs80357583GRCh37Chr 17, 41245279: 41245279
430BRCA1NM_007294.3(BRCA1): c.2299delA (p.Ser767Alafs)deletionPathogenicrs80357786GRCh37Chr 17, 41245249: 41245249
431BRCA1NM_007294.3(BRCA1): c.2411_2412delAG (p.Gln804Leufs)deletionPathogenicrs80357664GRCh37Chr 17, 41245136: 41245137
432BRCA1NM_007294.3(BRCA1): c.2424delT (p.Phe808Leufs)deletionPathogenicrs397507200GRCh37Chr 17, 41245124: 41245124
433BRCA1NM_007294.3(BRCA1): c.2433delC (p.Lys812Argfs)deletionPathogenicrs80357524GRCh37Chr 17, 41245115: 41245115
434BRCA1NM_007294.3(BRCA1): c.2457delC (p.Asp821Ilefs)deletionPathogenicrs80357669GRCh37Chr 17, 41245091: 41245091
435BRCA1NM_007294.3(BRCA1): c.2475delC (p.Asp825Glufs)deletionPathogenicrs80357970GRCh37Chr 17, 41245073: 41245073
436BRCA1NM_007294.3(BRCA1): c.2515delC (p.His839Thrfs)deletionPathogenicrs80357607GRCh37Chr 17, 41245033: 41245033
437BRCA1NM_007294.3(BRCA1): c.2563C> T (p.Gln855Ter)single nucleotide variantPathogenicrs80357131GRCh37Chr 17, 41244985: 41244985
438BRCA1NM_007294.3(BRCA1): c.2603C> G (p.Ser868Ter)single nucleotide variantPathogenicrs80356925GRCh37Chr 17, 41244945: 41244945
439BRCA1NM_007294.3(BRCA1): c.2635G> T (p.Glu879Ter)single nucleotide variantPathogenicrs80357251GRCh37Chr 17, 41244913: 41244913
440BRCA1NM_007294.3(BRCA1): c.2677A> T (p.Lys893Ter)single nucleotide variantPathogenicrs80357170GRCh37Chr 17, 41244871: 41244871
441BRCA1NM_007294.3(BRCA1): c.2679_2682delGAAA (p.Lys893Asnfs)deletionPathogenicrs80357596GRCh37Chr 17, 41244866: 41244869
442BRCA1NM_007294.3(BRCA1): c.2707_2708insAT (p.Cys903Tyrfs)insertionPathogenicrs80357717GRCh37Chr 17, 41244840: 41244841
443BRCA1NM_007294.3(BRCA1): c.2710G> T (p.Glu904Ter)single nucleotide variantPathogenicrs80357035GRCh37Chr 17, 41244838: 41244838
444BRCA1NM_007294.3(BRCA1): c.2806_2809delGATA (p.Asp936Serfs)deletionPathogenicrs80357832GRCh37Chr 17, 41244739: 41244742
445BRCA1NM_007294.3(BRCA1): c.2864_2865insT (p.Ser956Ilefs)insertionPathogenicrs397507205GRCh37Chr 17, 41244683: 41244684
446BRCA1NM_007294.3(BRCA1): c.2934T> G (p.Tyr978Ter)single nucleotide variantPathogenicrs80357115GRCh37Chr 17, 41244614: 41244614
447BRCA1NM_007294.3(BRCA1): c.2981_2982delGT (p.Cys994Terfs)deletionPathogenicrs397507207GRCh37Chr 17, 41244566: 41244567
448BRCA1NM_007294.3(BRCA1): c.2990_2991insAA (p.Asn997Lysfs)insertionPathogenicrs80357829GRCh37Chr 17, 41244557: 41244558
449BRCA1NM_007294.3(BRCA1): c.302-2A> Csingle nucleotide variantPathogenicrs80358011GRCh37Chr 17, 41256280: 41256280
450BRCA1NM_007294.3(BRCA1): c.302-3C> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs80358051GRCh37Chr 17, 41256281: 41256281
451BRCA1NM_007294.3(BRCA1): c.3037_3038delGA (p.Glu1013Asnfs)deletionPathogenicrs397507208GRCh37Chr 17, 41244510: 41244511
452BRCA1NM_007294.3: c.3052_3053ins5insertionPathogenicGRCh37Chr 17, 41244495: 41244496
453BRCA1NM_007294.3(BRCA1): c.3112G> T (p.Glu1038Ter)single nucleotide variantPathogenicrs80357161GRCh37Chr 17, 41244436: 41244436
454BRCA1NM_007294.3: c.3164_3165ins4insertionPathogenicGRCh37Chr 17, 41244383: 41244384
455BRCA1NM_007294.3(BRCA1): c.3174delT (p.Asn1059Metfs)deletionPathogenicrs397507210GRCh37Chr 17, 41244374: 41244374
456BRCA1NM_007294.3(BRCA1): c.3228_3229delAG (p.Gly1077Alafs)deletionPathogenicrs80357635GRCh37Chr 17, 41244319: 41244320
457BRCA1NM_007294.3(BRCA1): c.3255_3256insGA (p.Leu1086Aspfs)insertionPathogenicrs80357624GRCh37Chr 17, 41244292: 41244293
458BRCA1NM_007294.3(BRCA1): c.329delA (p.Lys110Argfs)deletionPathogenicrs397507214GRCh37Chr 17, 41256251: 41256251
459BRCA1NM_007294.3(BRCA1): c.3331_3334delCAAG (p.Gln1111Asnfs)deletionPathogenicrs80357903GRCh37Chr 17, 41244214: 41244217
460BRCA1NM_007294.3(BRCA1): c.3352C> T (p.Gln1118Ter)single nucleotide variantPathogenicrs397507215GRCh37Chr 17, 41244196: 41244196
461BRCA1NM_007294.3(BRCA1): c.3358_3359delGT (p.Val1120Terfs)deletionPathogenicrs80357945GRCh37Chr 17, 41244189: 41244190
462BRCA1NM_007294.3(BRCA1): c.3389C> G (p.Ser1130Ter)single nucleotide variantPathogenicrs80357405GRCh37Chr 17, 41244159: 41244159
463BRCA1NM_007294.3(BRCA1): c.3400G> T (p.Glu1134Ter)single nucleotide variantPathogenicrs80357018GRCh37Chr 17, 41244148: 41244148
464BRCA1NM_007294.3(BRCA1): c.3442delG (p.Glu1148Argfs)deletionPathogenicrs80357808GRCh37Chr 17, 41244106: 41244106
465BRCA1NM_007294.3(BRCA1): c.3485delA (p.Asp1162Valfs)deletionPathogenicrs80357509GRCh37Chr 17, 41244063: 41244063
466BRCA1NM_007294.3(BRCA1): c.3503delA (p.Asn1168Metfs)deletionPathogenicrs397507216GRCh37Chr 17, 41244045: 41244045
467BRCA1NM_007294.3(BRCA1): c.3612delA (p.Ala1206Profs)deletionPathogenicrs80357980GRCh37Chr 17, 41243936: 41243936
468BRCA1NM_007294.3(BRCA1): c.3627dupA (p.Glu1210Argfs)duplicationPathogenicrs80357729GRCh37Chr 17, 41243920: 41243921
469BRCA1NM_007294.3(BRCA1): c.3648dupA (p.Ser1217Ilefs)duplicationPathogenicrs80357902GRCh37Chr 17, 41243899: 41243900
470BRCA1NM_007294.3: c.3671_3672ins4insertionPathogenicGRCh37Chr 17, 41243876: 41243877
471BRCA1NM_007294.3(BRCA1): c.3683delA (p.His1228Profs)deletionPathogenicrs397507217GRCh37Chr 17, 41243865: 41243865
472BRCA1NM_007294.3(BRCA1): c.3689T> G (p.Leu1230Ter)single nucleotide variantPathogenicrs80357162GRCh37Chr 17, 41243859: 41243859
473BRCA1NM_007294.3(BRCA1): c.3700_3704delGTAAA (p.Val1234Glnfs)deletionPathogenicrs80357609GRCh37Chr 17, 41243844: 41243848
474BRCA1NM_007294.3(BRCA1): c.3759_3760delTA (p.Lys1254Glufs)deletionPathogenicrs80357520GRCh37Chr 17, 41243788: 41243789
475BRCA1NM_007294.3(BRCA1): c.3764dupA (p.Asn1255Lysfs)duplicationPathogenicrs80357848GRCh37Chr 17, 41243783: 41243784
476BRCA1NM_007294.3(BRCA1): c.3770_3771delAG (p.Glu1257Glyfs)deletionPathogenicrs80357993GRCh37Chr 17, 41243777: 41243778
477BRCA1NM_007294.3(BRCA1): c.3771_3772delGGinsC (p.Glu1257Aspfs)indelPathogenicrs397507218GRCh37Chr 17, 41243776: 41243777
478BRCA1NM_007294.3(BRCA1): c.3825dupA (p.Leu1276Ilefs)duplicationPathogenicrs397507220GRCh37Chr 17, 41243722: 41243723
479BRCA1NM_007294.3(BRCA1): c.3852_3853insAC (p.Leu1285Thrfs)insertionPathogenicrs397507221GRCh37Chr 17, 41243695: 41243696
480BRCA1NM_007294.3(BRCA1): c.3852delC (p.Ser1286Valfs)deletionPathogenicrs397507222GRCh37Chr 17, 41243696: 41243696
481BRCA1NM_007294.3(BRCA1): c.3858_3861delTGAG (p.Ser1286Argfs)deletionPathogenicrs80357889GRCh37Chr 17, 41243687: 41243690
482BRCA1NM_007294.3(BRCA1): c.3868A> T (p.Lys1290Ter)single nucleotide variantPathogenicrs80357254GRCh37Chr 17, 41243680: 41243680
483BRCA1NM_007294.3(BRCA1): c.3937C> T (p.Gln1313Ter)single nucleotide variantPathogenicrs80357318GRCh37Chr 17, 41243611: 41243611
484BRCA1NM_007294.3(BRCA1): c.3991C> T (p.Gln1331Ter)single nucleotide variantPathogenicrs397507224GRCh37Chr 17, 41243557: 41243557
485BRCA1NM_007294.3(BRCA1): c.4015G> T (p.Glu1339Ter)single nucleotide variantPathogenicrs80357021GRCh37Chr 17, 41243533: 41243533
486BRCA1NM_007294.3(BRCA1): c.4035delA (p.Glu1346Lysfs)deletionPathogenicrs80357711GRCh37Chr 17, 41243513: 41243513
487BRCA1NM_007294.3(BRCA1): c.4096+1G> Asingle nucleotide variantPathogenicrs80358178GRCh37Chr 17, 41243451: 41243451
488BRCA1NM_007294.3(BRCA1): c.4096+3A> Gsingle nucleotide variantPathogenicrs80358015GRCh37Chr 17, 41243449: 41243449
489BRCA1NM_007294.3(BRCA1): c.4097-1G> Asingle nucleotide variantPathogenicrs80358070GRCh37Chr 17, 41243050: 41243050
490BRCA1NM_007294.3(BRCA1): c.4116_4117delTG (p.Cys1372Terfs)deletionPathogenicrs80357804GRCh37Chr 17, 41243029: 41243030
491BRCA1NM_007294.3(BRCA1): c.4117G> T (p.Glu1373Ter)single nucleotide variantPathogenicrs80357259GRCh37Chr 17, 41243029: 41243029
492BRCA1NM_007294.3(BRCA1): c.4120_4121delAG (p.Ser1374Terfs)deletionPathogenicrs80357787GRCh37Chr 17, 41243025: 41243026
493BRCA1NM_007294.3(BRCA1): c.4148C> G (p.Ser1383Ter)single nucleotide variantPathogenicrs80357071GRCh37Chr 17, 41242998: 41242998
494BRCA1NM_007294.3: c.4185+2_4185+22del21insAindelPathogenicrs273900724GRCh37Chr 17, 41242939: 41242959
495BRCA1NM_007294.3(BRCA1): c.4243delG (p.Glu1415Lysfs)deletionPathogenicrs80357981GRCh37Chr 17, 41234535: 41234535
496BRCA1NM_007294.3(BRCA1): c.4251_4252delGT (p.Leu1418Argfs)deletionPathogenicrs80357977GRCh37Chr 17, 41234526: 41234527
497BRCA1NM_007294.3(BRCA1): c.427G> T (p.Glu143Ter)single nucleotide variantPathogenicrs80356991GRCh37Chr 17, 41256153: 41256153
498BRCA1NM_007294.3(BRCA1): c.4357+1G> Asingle nucleotide variantPathogenicrs80358027GRCh37Chr 17, 41234420: 41234420
499BRCA1NM_007294.3(BRCA1): c.4387delT (p.Tyr1463Thrfs)deletionPathogenicrs397507229GRCh37Chr 17, 41228602: 41228602
500BRCA1NM_007294.3: c.4388_4389ins7insertionPathogenicGRCh37Chr 17, 41228600: 41228601
501BRCA1NM_007294.3(BRCA1): c.4391_4393delCTAinsTT (p.Pro1464Leufs)indelPathogenicrs273900730GRCh37Chr 17, 41228596: 41228598
502BRCA1NM_007294.3(BRCA1): c.4391delC (p.Pro1464Leufs)deletionPathogenicrs80357916GRCh37Chr 17, 41228598: 41228598
503BRCA1NM_007294.3(BRCA1): c.4393delA (p.Ile1465Terfs)deletionPathogenicrs397507230GRCh37Chr 17, 41228596: 41228596
504BRCA1NM_007294.3(BRCA1): c.4427dupA (p.Phe1477Valfs)duplicationPathogenicrs397507231GRCh37Chr 17, 41228561: 41228562
505BRCA1NM_007294.3(BRCA1): c.4482_4483delAA (p.Arg1495Valfs)deletionPathogenicrs80357854GRCh37Chr 17, 41228506: 41228507
506BRCA1NM_007294.3(BRCA1): c.4484+1G> Asingle nucleotide variantPathogenicrs80358063GRCh37Chr 17, 41228504: 41228504
507BRCA1NM_007294.3(BRCA1): c.4484G> A (p.Arg1495Lys)single nucleotide variantPathogenicrs80357389GRCh37Chr 17, 41228505: 41228505
508BRCA1NM_007294.3(BRCA1): c.4484G> T (p.Arg1495Met)single nucleotide variantPathogenicrs80357389GRCh37Chr 17, 41228505: 41228505
509BRCA1NM_007294.3(BRCA1): c.466dupC (p.Leu156Profs)duplicationPathogenicrs397507236GRCh37Chr 17, 41251872: 41251873
510BRCA1NM_007294.3(BRCA1): c.4675G> A (p.Glu1559Lys)single nucleotide variantPathogenicrs80356988GRCh37Chr 17, 41226348: 41226348
511BRCA1NM_007294.3(BRCA1): c.4675G> C (p.Glu1559Gln)single nucleotide variantLikely pathogenic, Pathogenicrs80356988GRCh37Chr 17, 41226348: 41226348
512BRCA1NM_007294.3(BRCA1): c.4689C> G (p.Tyr1563Ter)single nucleotide variantPathogenicrs80357433GRCh37Chr 17, 41223242: 41223242
513BRCA1NM_007294.3(BRCA1): c.470_471delCT (p.Ser157Terfs)deletionPathogenicrs80357887GRCh37Chr 17, 41251868: 41251869
514BRCA1NM_007294.3(BRCA1): c.4749_4750delAG (p.Arg1583Serfs)deletionPathogenicrs80357641GRCh37Chr 17, 41223181: 41223182
515BRCA1NM_007294.3(BRCA1): c.4775_4779delACATAinsC (p.Asn1592Thrfs)indelPathogenicrs397507237GRCh37Chr 17, 41223152: 41223156
516BRCA1NM_007294.3(BRCA1): c.4868C> G (p.Ala1623Gly)single nucleotide variantLikely pathogenic, Pathogenicrs80356862GRCh37Chr 17, 41223063: 41223063
517BRCA1NM_007294.3(BRCA1): c.4964_4982del19 (p.Ser1655Tyrfs)deletionPathogenicrs80359876GRCh37Chr 17, 41222949: 41222967
518BRCA1NM_007294.3(BRCA1): c.4986+1G> Tsingle nucleotide variantPathogenicrs80358162GRCh37Chr 17, 41222944: 41222944
519BRCA1NM_007294.3(BRCA1): c.4986+4A> Csingle nucleotide variantPathogenicrs80358087GRCh37Chr 17, 41222941: 41222941
520BRCA1NM_007294.3(BRCA1): c.4986+6T> Csingle nucleotide variantLikely pathogenic, Pathogenicrs80358086GRCh37Chr 17, 41222939: 41222939
521BRCA1NM_007294.3(BRCA1): c.5030_5033delCTAA (p.Thr1677Ilefs)deletionPathogenicrs80357862GRCh37Chr 17, 41219666: 41219669
522BRCA1NM_007294.3(BRCA1): c.5035_5039delCTAAT (p.Leu1679Tyrfs)deletionPathogenicrs80357623GRCh37Chr 17, 41219660: 41219664
523BRCA1NM_007294.3(BRCA1): c.5066T> G (p.Met1689Arg)single nucleotide variantPathogenicrs80357061GRCh37Chr 17, 41219633: 41219633
524BRCA1NM_007294.3(BRCA1): c.5068A> T (p.Lys1690Ter)single nucleotide variantPathogenicrs397507239GRCh37Chr 17, 41219631: 41219631
525BRCA1NM_007294.3(BRCA1): c.5074+1G> Asingle nucleotide variantPathogenicrs80358053GRCh37Chr 17, 41219624: 41219624
526BRCA1NM_007294.3(BRCA1): c.5074+1G> Tsingle nucleotide variantLikely pathogenic, Pathogenicrs80358053GRCh37Chr 17, 41219624: 41219624
527BRCA1NM_007294.3(BRCA1): c.5074+2T> Csingle nucleotide variantPathogenicrs80358089GRCh37Chr 17, 41219623: 41219623
528BRCA1NM_007294.3(BRCA1): c.5074G> A (p.Asp1692Asn)single nucleotide variantLikely pathogenic, Pathogenicrs80187739GRCh37Chr 17, 41219625: 41219625
529BRCA1NM_007294.3(BRCA1): c.5074G> C (p.Asp1692His)single nucleotide variantPathogenicrs80187739GRCh37Chr 17, 41219625: 41219625
530BRCA1NM_007294.3(BRCA1): c.5096G> A (p.Arg1699Gln)single nucleotide variantLikely pathogenic, Pathogenicrs41293459GRCh37Chr 17, 41215947: 41215947
531BRCA1NM_007294.3(BRCA1): c.5117G> A (p.Gly1706Glu)single nucleotide variantLikely pathogenicrs80356860GRCh37Chr 17, 41215926: 41215926
532BRCA1NM_007294.3(BRCA1): c.5152+1G> Csingle nucleotide variantPathogenicrs80358094GRCh37Chr 17, 41215890: 41215890
533BRCA1NM_007294.3(BRCA1): c.5153-1G> Csingle nucleotide variantLikely pathogenic, Pathogenicrs80358137GRCh37Chr 17, 41215391: 41215391
534BRCA1NM_007294.3(BRCA1): c.5177_5180delGAAA (p.Arg1726Lysfs)deletionPathogenicrs80357975GRCh37Chr 17, 41215363: 41215366
535BRCA1NM_007294.3(BRCA1): c.5179A> T (p.Lys1727Ter)single nucleotide variantPathogenicrs80357347GRCh37Chr 17, 41215364: 41215364
536BRCA1NM_007294.3(BRCA1): c.5194-2A> Gsingle nucleotide variantPathogenicrs80358069GRCh37Chr 17, 41209154: 41209154
537BRCA1NM_007294.3(BRCA1): c.5207T> C (p.Val1736Ala)single nucleotide variantPathogenicrs45553935GRCh37Chr 17, 41209139: 41209139
538BRCA1NM_007294.3: c.5232_5238delAAACCACins12indelPathogenicGRCh37Chr 17, 41209108: 41209114
539BRCA1NM_007294.3(BRCA1): c.5259delA (p.Glu1754Asnfs)deletionPathogenicrs80357925GRCh37Chr 17, 41209087: 41209087
540BRCA1NM_007294.3(BRCA1): c.5277+1G> Asingle nucleotide variantPathogenicrs80358150GRCh37Chr 17, 41209068: 41209068
541BRCA1NM_007294.3(BRCA1): c.5297T> G (p.Ile1766Ser)single nucleotide variantPathogenicrs80357463GRCh37Chr 17, 41203115: 41203115
542BRCA1NM_007294.3(BRCA1): c.5335delC (p.Gln1779Asnfs)deletionPathogenicrs80357590GRCh37Chr 17, 41201209: 41201209
543BRCA1NM_007294.3(BRCA1): c.5346G> A (p.Trp1782Ter)single nucleotide variantPathogenicrs80357284GRCh37Chr 17, 41201198: 41201198
544BRCA1NM_007294.3(BRCA1): c.5363G> T (p.Gly1788Val)single nucleotide variantPathogenicrs80357069GRCh37Chr 17, 41201181: 41201181
545BRCA1NM_007294.3(BRCA1): c.5386delT (p.Ser1796Hisfs)deletionPathogenicrs397507249GRCh37Chr 17, 41201158: 41201158
546BRCA1NM_007294.3(BRCA1): c.5387C> A (p.Ser1796Ter)single nucleotide variantPathogenicrs80357055GRCh37Chr 17, 41201157: 41201157
547BRCA1NM_007294.3(BRCA1): c.53T> C (p.Met18Thr)single nucleotide variantLikely pathogenicrs80356929GRCh37Chr 17, 41276061: 41276061
548BRCA1NM_007294.3(BRCA1): c.5406+1G> Asingle nucleotide variantPathogenicrs80358028GRCh37Chr 17, 41201137: 41201137
549BRCA1NM_007294.3(BRCA1): c.5406+5G> Tsingle nucleotide variantPathogenicrs80358073GRCh37Chr 17, 41201133: 41201133
550BRCA1NM_007294.3(BRCA1): c.5417delC (p.Pro1806Glnfs)deletionPathogenicrs80357558GRCh37Chr 17, 41199710: 41199710
551BRCA1NM_007294.3(BRCA1): c.5453A> G (p.Asp1818Gly)single nucleotide variantPathogenicrs80357477GRCh37Chr 17, 41199674: 41199674
552BRCA1NM_007294.3(BRCA1): c.5467+1G> Asingle nucleotide variantPathogenicrs80358145GRCh37Chr 17, 41199659: 41199659
553BRCA1NM_007294.3(BRCA1): c.547+2T> Asingle nucleotide variantPathogenicrs80358047GRCh37Chr 17, 41251790: 41251790
554BRCA1NM_007294.3(BRCA1): c.5509T> C (p.Trp1837Arg)single nucleotide variantLikely pathogenicrs80356959GRCh37Chr 17, 41197778: 41197778
555BRCA1NM_007294.3(BRCA1): c.5578dupC (p.His1860Profs)duplicationLikely pathogenicrs397507254GRCh37Chr 17, 41197708: 41197709
556BRCA1NM_007294.3(BRCA1): c.594-2A> Csingle nucleotide variantPathogenicrs80358033GRCh37Chr 17, 41247941: 41247941
557BRCA1NM_007294.3(BRCA1): c.66dupA (p.Glu23Argfs)duplicationPathogenicrs80357783GRCh37Chr 17, 41276047: 41276048
558BRCA1NM_007294.3(BRCA1): c.676delT (p.Cys226Valfs)deletionPathogenicrs80357941GRCh37Chr 17, 41246872: 41246872
559BRCA1NM_007294.3(BRCA1): c.697_698delGT (p.Val233Asnfs)deletionPathogenicrs80357747GRCh37Chr 17, 41246850: 41246851
560BRCA1NM_007294.3(BRCA1): c.783T> G (p.Tyr261Ter)single nucleotide variantPathogenicrs80357321GRCh37Chr 17, 41246765: 41246765
561BRCA1NM_007294.3(BRCA1): c.798_799delTT (p.Ser267Lysfs)deletionPathogenicrs80357724GRCh37Chr 17, 41246749: 41246750
562BRCA1NM_007294.3: c.824_825ins10insertionPathogenicGRCh37Chr 17, 41246723: 41246724
563BRCA1NM_007294.3(BRCA1): c.85G> T (p.Glu29Ter)single nucleotide variantPathogenicrs80357443GRCh37Chr 17, 41267792: 41267792
564BRCA1NM_007294.3(BRCA1): c.929delA (p.Gln310Argfs)deletionPathogenicrs80357844GRCh37Chr 17, 41246619: 41246619
565BRCA1NM_007294.3(BRCA1): c.952_1015del64 (p.His318Argfs)deletionPathogenicrs80359872GRCh37Chr 17, 41246533: 41246596
566BRCA1NM_007294.3(BRCA1): c.962G> A (p.Trp321Ter)single nucleotide variantPathogenicrs80357292GRCh37Chr 17, 41246586: 41246586
567BRCA2NM_000059.3(BRCA2): c.1029delA (p.Lys343Asnfs)deletionPathogenicrs80359260GRCh37Chr 13, 32906644: 32906644
568BRCA2NM_000059.3(BRCA2): c.1156delG (p.Glu386Lysfs)deletionPathogenicrs397507262GRCh37Chr 13, 32906771: 32906771
569BRCA2NM_000059.3: c.1189_1190ins4insertionPathogenicGRCh37Chr 13, 32906804: 32906805
570BRCA2NM_000059.3(BRCA2): c.1253C> A (p.Ser418Ter)single nucleotide variantPathogenicrs397507266GRCh37Chr 13, 32906868: 32906868
571BRCA2NM_000059.3(BRCA2): c.1296_1297delGA (p.Asn433Glnfs)deletionPathogenicrs80359276GRCh37Chr 13, 32906911: 32906912
572BRCA2NM_000059.3(BRCA2): c.1593dupA (p.Glu532Argfs)duplicationPathogenicrs397507272GRCh37Chr 13, 32907208: 32907209
573BRCA2NM_000059.3(BRCA2): c.1705C> A (p.Gln569Lys)single nucleotide variantPathogenicrs397507274GRCh37Chr 13, 32907320: 32907320
574BRCA2NM_000059.3(BRCA2): c.1799A> G (p.Tyr600Cys)single nucleotide variantPathogenicrs397507276GRCh37Chr 13, 32907414: 32907414
575BRCA2NM_000059.3(BRCA2): c.1850C> A (p.Ser617Ter)single nucleotide variantPathogenicrs397507278GRCh37Chr 13, 32907465: 32907465
576BRCA2NM_000059.3(BRCA2): c.1850C> G (p.Ser617Ter)single nucleotide variantPathogenicrs397507278GRCh37Chr 13, 32907465: 32907465
577BRCA2NM_000059.3(BRCA2): c.1970T> A (p.Leu657Ter)single nucleotide variantPathogenicrs397507279GRCh37Chr 13, 32910462: 32910462
578BRCA2NM_000059.3(BRCA2): c.2036delA (p.Asn679Ilefs)deletionPathogenicrs80359318GRCh37Chr 13, 32910528: 32910528
579BRCA2NM_000059.3(BRCA2): c.2092delC (p.Leu698Tyrfs)deletionPathogenicrs80359322GRCh37Chr 13, 32910584: 32910584
580BRCA2NM_000059.3(BRCA2): c.2175dupA (p.Val726Serfs)duplicationPathogenicrs276174819GRCh37Chr 13, 32910667: 32910668
581BRCA2NM_000059.3(BRCA2): c.2231C> G (p.Ser744Ter)single nucleotide variantPathogenicrs397507282GRCh37Chr 13, 32910723: 32910723
582BRCA2NM_000059.3(BRCA2): c.2324delC (p.Lys776Argfs)deletionPathogenicrs397507284GRCh37Chr 13, 32910816: 32910816
583BRCA2NM_000059.3(BRCA2): c.2409T> G (p.Tyr803Ter)single nucleotide variantPathogenicrs80358504GRCh37Chr 13, 32910901: 32910901
584BRCA2NM_000059.3(BRCA2): c.2426T> G (p.Leu809Ter)single nucleotide variantPathogenicrs397507285GRCh37Chr 13, 32910918: 32910918
585BRCA2NM_000059.3(BRCA2): c.2588dupA (p.Asn863Lysfs)duplicationPathogenicrs80359338GRCh37Chr 13, 32911080: 32911080
586BRCA2NM_000059.3(BRCA2): c.2618_2619delTA (p.Ile873Asnfs)deletionPathogenicrs397507290GRCh37Chr 13, 32911110: 32911111
587BRCA2NM_000059.3(BRCA2): c.2658_2659delTG (p.Asn886Lysfs)deletionPathogenicrs397507291GRCh37Chr 13, 32911150: 32911151
588BRCA2NM_000059.3(BRCA2): c.274C> T (p.Gln92Ter)single nucleotide variantPathogenicrs80358529GRCh37Chr 13, 32893420: 32893420
589BRCA2NM_000059.3(BRCA2): c.2979G> A (p.Trp993Ter)single nucleotide variantPathogenicrs80358544GRCh37Chr 13, 32911471: 32911471
590BRCA2NM_000059.3(BRCA2): c.3073A> T (p.Lys1025Ter)single nucleotide variantPathogenicrs80358550GRCh37Chr 13, 32911565: 32911565
591BRCA2NM_000059.3(BRCA2): c.3109C> T (p.Gln1037Ter)single nucleotide variantPathogenicrs80358557GRCh37Chr 13, 32911601: 32911601
592BRCA2NM_000059.3(BRCA2): c.3158T> G (p.Leu1053Ter)single nucleotide variantPathogenicrs41293477GRCh37Chr 13, 32911650: 32911650
593BRCA2NM_000059.3(BRCA2): c.316+1G> Asingle nucleotide variantPathogenicrs397507303GRCh37Chr 13, 32893463: 32893463
594BRCA2NM_000059.3(BRCA2): c.316+1G> Csingle nucleotide variantPathogenicrs397507303GRCh37Chr 13, 32893463: 32893463
595BRCA2NM_000059.3(BRCA2): c.3160_3163delGATA (p.Asp1054Ilefs)deletionPathogenicrs80359371GRCh37Chr 13, 32911652: 32911655
596BRCA2NM_000059.3(BRCA2): c.3182delA (p.Lys1061Serfs)deletionPathogenicrs397507304GRCh37Chr 13, 32911674: 32911674
597BRCA2NM_000059.3(BRCA2): c.3308T> G (p.Leu1103Ter)single nucleotide variantPathogenicrs397507305GRCh37Chr 13, 32911800: 32911800
598BRCA2NM_000059.3(BRCA2): c.3848dupT (p.Ser1284Lysfs)duplicationPathogenicrs397507317GRCh37Chr 13, 32912340: 32912341
599BRCA2NM_000059.3(BRCA2): c.3865_3868delAAAT (p.Lys1289Alafs)deletionPathogenicrs80359412GRCh37Chr 13, 32912357: 32912360
600BRCA2NM_000059.3(BRCA2): c.389delT (p.Ser131Profs)deletionPathogenicrs397507318GRCh37Chr 13, 32899285: 32899285
601BRCA2NM_000059.3(BRCA2): c.396T> A (p.Cys132Ter)single nucleotide variantPathogenicrs397507320GRCh37Chr 13, 32899292: 32899292
602BRCA2NM_000059.3: c.3978_3979ins4insertionPathogenicGRCh37Chr 13, 32912470: 32912471
603BRCA2NM_000059.3(BRCA2): c.3G> T (p.Met1Ile)single nucleotide variantPathogenicrs80358650GRCh37Chr 13, 32890600: 32890600
604BRCA2NM_000059.3(BRCA2): c.3delG (p.Met1Ilefs)deletionPathogenicrs80359418GRCh37Chr 13, 32890600: 32890600
605BRCA2NM_000059.3(BRCA2): c.4013delG (p.Gly1338Alafs)deletionPathogenicrs397507321GRCh37Chr 13, 32912505: 32912505
606BRCA2NM_000059.3(BRCA2): c.4058_4062delAAACG (p.Glu1353Glyfs)deletionPathogenicrs397507322GRCh37Chr 13, 32912550: 32912554
607BRCA2NM_000059.3(BRCA2): c.4092_4093delAT (p.Ile1364Metfs)deletionPathogenicrs80359426GRCh37Chr 13, 32912584: 32912585
608BRCA2NM_000059.3(BRCA2): c.4127_4130delGAAA (p.Gly1376Alafs)deletionPathogenicrs397507323GRCh37Chr 13, 32912619: 32912622
609BRCA2NM_000059.3: c.4131_4132ins6insertionPathogenicGRCh37Chr 13, 32912623: 32912624
610BRCA2NM_000059.3(BRCA2): c.4151T> A (p.Leu1384Ter)single nucleotide variantPathogenicrs397507325GRCh37Chr 13, 32912643: 32912643
611BRCA2NM_000059.3(BRCA2): c.4163_4164delCTinsA (p.Thr1388Asnfs)indelPathogenicrs276174843GRCh37Chr 13, 32912655: 32912656
612BRCA2NM_000059.3(BRCA2): c.4222C> T (p.Gln1408Ter)single nucleotide variantPathogenicrs80358663GRCh37Chr 13, 32912714: 32912714
613BRCA2NM_000059.3(BRCA2): c.4243G> T (p.Glu1415Ter)single nucleotide variantPathogenicrs397507327GRCh37Chr 13, 32912735: 32912735
614BRCA2NM_000059.3(BRCA2): c.4319_4320delAA (p.Lys1440Argfs)deletionPathogenicrs397507328GRCh37Chr 13, 32912811: 32912812
615BRCA2NM_000059.3(BRCA2): c.4405_4409delGACAT (p.Asp1469Lysfs)deletionPathogenicrs397507331GRCh37Chr 13, 32912897: 32912901
616BRCA2NM_000059.3(BRCA2): c.4414_4415delAA (p.Lys1472Glufs)deletionPathogenicrs397507332GRCh37Chr 13, 32912906: 32912907
617BRCA2NM_000059.3(BRCA2): c.4415_4418delAGAA (p.Lys1472Thrfs)deletionPathogenicrs397507333GRCh37Chr 13, 32912907: 32912910
618BRCA2NM_000059.3(BRCA2): c.4449delA (p.Asp1484Thrfs)deletionPathogenicrs80359448GRCh37Chr 13, 32912941: 32912941
619BRCA2NM_000059.3(BRCA2): c.4470dupA (p.Leu1491Thrfs)duplicationPathogenicrs397507334GRCh37Chr 13, 32912962: 32912963
620BRCA2NM_000059.3(BRCA2): c.4472_4475delTGAA (p.Leu1491Glnfs)deletionPathogenicrs80359452GRCh37Chr 13, 32912964: 32912967
621BRCA2NM_000059.3(BRCA2): c.4638delT (p.Phe1546Leufs)deletionPathogenicrs80359462GRCh37Chr 13, 32913130: 32913130
622BRCA2NM_000059.3(BRCA2): c.4712_4713delAG (p.Glu1571Glyfs)deletionPathogenicrs397507339GRCh37Chr 13, 32913204: 32913205
623BRCA2NM_000059.3(BRCA2): c.475+4delTdeletionLikely pathogenicrs276174848GRCh37Chr 13, 32900291: 32900291
624BRCA2NM_000059.3(BRCA2): c.476-1G> Asingle nucleotide variantPathogenicrs397507340GRCh37Chr 13, 32900378: 32900378
625BRCA2NM_000059.3(BRCA2): c.4921_4924delGAAA (p.Glu1641Metfs)deletionPathogenicrs397507344GRCh37Chr 13, 32913413: 32913416
626BRCA2NM_000059.3(BRCA2): c.5000C> G (p.Ser1667Ter)single nucleotide variantPathogenicrs397507346GRCh37Chr 13, 32913492: 32913492
627BRCA2NM_000059.3(BRCA2): c.5035delA (p.Thr1679Leufs)deletionPathogenicrs80359477GRCh37Chr 13, 32913527: 32913527
628BRCA2NM_000059.3(BRCA2): c.5042_5043delTG (p.Val1681Glufs)deletionPathogenicrs80359478GRCh37Chr 13, 32913534: 32913535
629BRCA2NM_000059.3(BRCA2): c.5080A> T (p.Arg1694Ter)single nucleotide variantPathogenicrs200265692GRCh37Chr 13, 32913572: 32913572
630BRCA2NM_000059.3(BRCA2): c.518delG (p.Gly173Valfs)deletionPathogenicrs80359492GRCh37Chr 13, 32900637: 32900637
631BRCA2NM_000059.3(BRCA2): c.5213_5216delCTTA (p.Thr1738Ilefs)deletionPathogenicrs80359493GRCh37Chr 13, 32913705: 32913708
632BRCA2NM_000059.3(BRCA2): c.5266_5269delGTAT (p.Val1756Ilefs)deletionPathogenicrs80359501GRCh37Chr 13, 32913758: 32913761
633BRCA2NM_000059.3(BRCA2): c.5290_5291delTC (p.Ser1764Lysfs)deletionPathogenicrs80359503GRCh37Chr 13, 32913782: 32913783
634BRCA2NM_000059.3(BRCA2): c.5303_5304delTT (p.Leu1768Argfs)deletionPathogenicrs80359505GRCh37Chr 13, 32913795: 32913796
635BRCA2NM_000059.3(BRCA2): c.5351delA (p.Asn1784Thrfs)deletionPathogenicrs80359509GRCh37Chr 13, 32913843: 32913843
636BRCA2NM_000059.3(BRCA2): c.539_540insAT (p.Ser181Phefs)insertionPathogenicrs80359511GRCh37Chr 13, 32900658: 32900659
637BRCA2NM_000059.3(BRCA2): c.5436delA (p.Glu1812Aspfs)deletionPathogenicrs397507351GRCh37Chr 13, 32913928: 32913928
638BRCA2NM_000059.3(BRCA2): c.5471dupA (p.Asn1824Lysfs)duplicationPathogenicrs80359515GRCh37Chr 13, 32913963: 32913963
639BRCA2NM_000059.3(BRCA2): c.5498delA (p.Asn1833Ilefs)deletionPathogenicrs397507353GRCh37Chr 13, 32913990: 32913990
640BRCA2NM_000059.3(BRCA2): c.5577delT (p.Val1862Terfs)deletionPathogenicrs397507355GRCh37Chr 13, 32914069: 32914069
641BRCA2NM_000059.3(BRCA2): c.5595_5596delAT (p.Phe1866Tyrfs)deletionPathogenicrs80359524GRCh37Chr 13, 32914087: 32914088
642BRCA2NM_000059.3(BRCA2): c.5603_5606delACAG (p.Asp1868Valfs)deletionPathogenicrs397507356GRCh37Chr 13, 32914095: 32914098
643BRCA2NM_000059.3(BRCA2): c.5614A> T (p.Lys1872Ter)single nucleotide variantPathogenicrs80358783GRCh37Chr 13, 32914106: 32914106
644BRCA2NM_000059.3(BRCA2): c.5631delC (p.Asn1877Lysfs)deletionPathogenicrs397507357GRCh37Chr 13, 32914123: 32914123
645BRCA2NM_000059.3(BRCA2): c.5655C> A (p.Cys1885Ter)single nucleotide variantPathogenicrs80358789GRCh37Chr 13, 32914147: 32914147
646BRCA2NM_000059.3(BRCA2): c.5782G> T (p.Glu1928Ter)single nucleotide variantPathogenicrs56253082GRCh37Chr 13, 32914274: 32914274
647BRCA2NM_000059.3(BRCA2): c.582G> A (p.Trp194Ter)single nucleotide variantPathogenicrs80358810GRCh37Chr 13, 32900701: 32900701
648BRCA2NM_000059.3(BRCA2): c.5855T> A (p.Leu1952Ter)single nucleotide variantPathogenicrs375064902GRCh37Chr 13, 32914347: 32914347
649BRCA2NM_000059.3(BRCA2): c.5980C> T (p.Gln1994Ter)single nucleotide variantPathogenicrs80358831GRCh37Chr 13, 32914472: 32914472
650BRCA2NM_000059.3(BRCA2): c.6011_6017delAAGATAG (p.Glu2004Valfs)deletionPathogenicrs397507362GRCh37Chr 13, 32914503: 32914509
651BRCA2NM_000059.3(BRCA2): c.6206T> G (p.Leu2069Ter)single nucleotide variantPathogenicrs80358859GRCh37Chr 13, 32914698: 32914698
652BRCA2NM_000059.3(BRCA2): c.631G> C (p.Val211Leu)single nucleotide variantPathogenicrs80358871GRCh37Chr 13, 32900750: 32900750
653BRCA2NM_000059.3(BRCA2): c.6333_6337delGAGAA (p.Arg2112Profs)deletionPathogenicrs397507369GRCh37Chr 13, 32914825: 32914829
654BRCA2NM_000059.3(BRCA2): c.6373dupA (p.Thr2125Asnfs)duplicationPathogenicrs80359577GRCh37Chr 13, 32914865: 32914865
655BRCA2NM_000059.3(BRCA2): c.6405_6409delCTTAA (p.Asn2135Lysfs)deletionPathogenicrs80359585GRCh37Chr 13, 32914897: 32914901
656BRCA2NM_000059.3(BRCA2): c.6434_6441delATAATCAC (p.Asn2145Ilefs)deletionPathogenicrs397507371GRCh37Chr 13, 32914926: 32914933
657BRCA2NM_000059.3(BRCA2): c.6444dupT (p.Ile2149Tyrfs)duplicationPathogenicrs80359590GRCh37Chr 13, 32914936: 32914936
658BRCA2NM_000059.3(BRCA2): c.6535_6536insA (p.Val2179Aspfs)insertionPathogenicrs80359601GRCh37Chr 13, 32915027: 32915028
659BRCA2NM_000059.3(BRCA2): c.6566dupA (p.Asn2189Lysfs)duplicationPathogenicrs397507373GRCh37Chr 13, 32915058: 32915059
660BRCA2NM_000059.3(BRCA2): c.6724_6725delGA (p.Asp2242Phefs)deletionPathogenicrs397507375GRCh37Chr 13, 32915216: 32915217
661BRCA2NM_000059.3(BRCA2): c.688A> T (p.Lys230Ter)single nucleotide variantPathogenicrs80358913GRCh37Chr 13, 32905062: 32905062
662BRCA2NM_000059.3(BRCA2): c.6941delC (p.Thr2314Lysfs)deletionPathogenicrs80359628GRCh37Chr 13, 32920967: 32920967
663BRCA2NM_000059.3(BRCA2): c.6952C> T (p.Arg2318Ter)single nucleotide variantPathogenicrs80358920GRCh37Chr 13, 32920978: 32920978
664BRCA2NM_000059.3(BRCA2): c.700delT (p.Ser234Profs)deletionPathogenicrs80359633GRCh37Chr 13, 32905074: 32905074
665BRCA2NM_000059.3(BRCA2): c.7133C> G (p.Ser2378Ter)single nucleotide variantPathogenicrs276174889GRCh37Chr 13, 32929123: 32929123
666BRCA2NM_000059.3(BRCA2): c.7185_7190delCTTGATinsAG (p.His2395Glnfs)indelPathogenicrs397507383GRCh37Chr 13, 32929175: 32929180
667BRCA2NM_000059.3(BRCA2): c.7235C> T (p.Thr2412Ile)single nucleotide variantPathogenicrs397507384GRCh37Chr 13, 32929225: 32929225
668BRCA2NM_000059.3(BRCA2): c.7258G> T (p.Glu2420Ter)single nucleotide variantPathogenicrs397507385GRCh37Chr 13, 32929248: 32929248
669BRCA2NM_000059.3(BRCA2): c.7342_7343delAA (p.Lys2448Aspfs)deletionPathogenicrs397507386GRCh37Chr 13, 32929332: 32929333
670BRCA2NM_000059.3(BRCA2): c.7379_7382delACAA (p.Asn2460Thrfs)deletionPathogenicrs80359648GRCh37Chr 13, 32929369: 32929372
671BRCA2NM_000059.3(BRCA2): c.740_741insAG (p.Ser249Leufs)insertionPathogenicrs397507387GRCh37Chr 13, 32905114: 32905115
672BRCA2NM_000059.3(BRCA2): c.7412_7421delCAAAGTGTGA (p.Thr2471Lysfs)deletionPathogenicrs80359649GRCh37Chr 13, 32929402: 32929411
673BRCA2NM_000059.3(BRCA2): c.7419_7420delTG (p.Cys2473Terfs)deletionPathogenicrs80359651GRCh37Chr 13, 32929409: 32929410
674BRCA2NM_000059.3(BRCA2): c.7543dupA (p.Thr2515Asnfs)duplicationPathogenicrs80359657GRCh37Chr 13, 32930672: 32930673
675BRCA2NM_000059.3(BRCA2): c.755_758delACAG (p.Asp252Valfs)deletionPathogenicrs80359659GRCh37Chr 13, 32905129: 32905132
676BRCA2NM_000059.3(BRCA2): c.7567_7568delCT (p.Leu2523Glufs)deletionPathogenicrs80359664GRCh37Chr 13, 32930696: 32930697
677BRCA2NM_000059.3(BRCA2): c.7758G> A (p.Trp2586Ter)single nucleotide variantPathogenicrs80359004GRCh37Chr 13, 32932019: 32932019
678BRCA2NM_000059.3: c.7762_7764delATAins2indelPathogenicGRCh37Chr 13, 32932023: 32932025
679BRCA2NM_000059.3(BRCA2): c.7857G> A (p.Trp2619Ter)single nucleotide variantPathogenicrs80359011GRCh37Chr 13, 32936711: 32936711
680BRCA2NM_000059.3(BRCA2): c.7878G> A (p.Trp2626Ter)single nucleotide variantPathogenicrs80359013GRCh37Chr 13, 32936732: 32936732
681BRCA2NM_000059.3(BRCA2): c.7963C> T (p.Gln2655Ter)single nucleotide variantPathogenicrs397507395GRCh37Chr 13, 32936817: 32936817
682BRCA2NM_000059.3(BRCA2): c.7974C> G (p.Tyr2658Ter)single nucleotide variantPathogenicrs80359025GRCh37Chr 13, 32936828: 32936828
683BRCA2NM_000059.3(BRCA2): c.7977-1G> Csingle nucleotide variantPathogenicrs81002874GRCh37Chr 13, 32937315: 32937315
684BRCA2NM_000059.3: c.7977-3_7977-1del3ins2indelPathogenicGRCh37Chr 13, 32937313: 32937315
685BRCA2NM_000059.3(BRCA2): c.8205_8206delCC (p.Leu2737Serfs)deletionPathogenicrs397507396GRCh37Chr 13, 32937544: 32937545
686BRCA2NM_000059.3(BRCA2): c.8253dupT (p.Ile2752Tyrfs)duplicationPathogenicrs80359704GRCh37Chr 13, 32937592: 32937593
687BRCA2NM_000059.3(BRCA2): c.826_830delGTAAA (p.Val276Terfs)deletionPathogenicrs397507400GRCh37Chr 13, 32906441: 32906445
688BRCA2NM_000059.3(BRCA2): c.8297delC (p.Thr2766Asnfs)deletionPathogenicrs80359705GRCh37Chr 13, 32937636: 32937636
689BRCA2NM_000059.3(BRCA2): c.8322dupT (p.Met2775Tyrfs)duplicationPathogenicrs80359706GRCh37Chr 13, 32937661: 32937661
690BRCA2NM_000059.3(BRCA2): c.8331+1G> Asingle nucleotide variantPathogenicrs81002837GRCh37Chr 13, 32937671: 32937671
691BRCA2NM_000059.3(BRCA2): c.8414_8416delTATinsC (p.Leu2805Serfs)indelPathogenicrs397507402GRCh37Chr 13, 32944621: 32944623
692BRCA2NM_000059.3(BRCA2): c.8487+1G> Tsingle nucleotide variantPathogenicrs81002798GRCh37Chr 13, 32944695: 32944695
693BRCA2NM_000059.3(BRCA2): c.8488-1G> Asingle nucleotide variantLikely pathogenicrs397507404GRCh37Chr 13, 32945092: 32945092
694BRCA2NM_000059.3(BRCA2): c.8501delC (p.Thr2834Asnfs)deletionPathogenicrs80359712GRCh37Chr 13, 32945106: 32945106
695BRCA2NM_000059.3(BRCA2): c.8548_8551delGAAG (p.Glu2850Glnfs)deletionPathogenicrs397507406GRCh37Chr 13, 32945153: 32945156
696BRCA2NM_000059.3(BRCA2): c.8585dupT (p.Glu2863Argfs)duplicationPathogenicrs80359720GRCh37Chr 13, 32945190: 32945190
697BRCA2NM_000059.3(BRCA2): c.8633-2A> Gsingle nucleotide variantPathogenicrs81002886GRCh37Chr 13, 32950805: 32950805
698BRCA2NM_000059.3(BRCA2): c.8677C> T (p.Gln2893Ter)single nucleotide variantPathogenicrs397507409GRCh37Chr 13, 32950851: 32950851
699BRCA2NM_000059.3(BRCA2): c.8680delC (p.Gln2894Lysfs)deletionPathogenicrs397507410GRCh37Chr 13, 32950854: 32950854
700BRCA2NM_000059.3(BRCA2): c.8695C> T (p.Gln2899Ter)single nucleotide variantPathogenicrs397507411GRCh37Chr 13, 32950869: 32950869
701BRCA2NM_000059.3(BRCA2): c.8754+2T> Gsingle nucleotide variantPathogenicrs397507412GRCh37Chr 13, 32950930: 32950930
702BRCA2NM_000059.3(BRCA2): c.8754+5G> Asingle nucleotide variantPathogenicrs81002813GRCh37Chr 13, 32950933: 32950933
703BRCA2NM_000059.3(BRCA2): c.8869C> T (p.Gln2957Ter)single nucleotide variantPathogenicrs276174913GRCh37Chr 13, 32953568: 32953568
704BRCA2NM_000059.3(BRCA2): c.8940dupA (p.Glu2981Argfs)duplicationPathogenicrs80359732GRCh37Chr 13, 32953639: 32953640
705BRCA2NM_000059.3(BRCA2): c.8946dupA (p.Asp2983Argfs)duplicationPathogenicrs80359733GRCh37Chr 13, 32953645: 32953646
706BRCA2NM_000059.3(BRCA2): c.8951C> G (p.Ser2984Ter)single nucleotide variantPathogenicrs80359146GRCh37Chr 13, 32953650: 32953650
707BRCA2NM_000059.3(BRCA2): c.9026_9030delATCAT (p.Tyr3009Serfs)deletionPathogenicrs80359741GRCh37Chr 13, 32953959: 32953963
708BRCA2NM_000059.3(BRCA2): c.9060_9061insTT (p.Glu3021Leufs)insertionPathogenicrs397507418GRCh37Chr 13, 32953993: 32953994
709BRCA2NM_000059.3(BRCA2): c.9097delA (p.Thr3033Leufs)deletionPathogenicrs397507420GRCh37Chr 13, 32954030: 32954030
710BRCA2NM_000059.3(BRCA2): c.9235delG (p.Val3079Phefs)deletionPathogenicrs397507422GRCh37Chr 13, 32954261: 32954261
711BRCA2NM_000059.3(BRCA2): c.9274delT (p.Tyr3092Ilefs)deletionPathogenicrs397507424GRCh37Chr 13, 32968843: 32968843
712BRCA2NM_000059.3(BRCA2): c.9294C> A (p.Tyr3098Ter)single nucleotide variantPathogenicrs80359200GRCh37Chr 13, 32968863: 32968863
713BRCA2NM_000059.3(BRCA2): c.9401delG (p.Gly3134Alafs)deletionPathogenicrs80359759GRCh37Chr 13, 32968970: 32968970
714BRCA2NM_000059.3(BRCA2): c.9523G> T (p.Glu3175Ter)single nucleotide variantPathogenicrs397507430GRCh37Chr 13, 32971056: 32971056
715BRCA2NM_000059.3(BRCA2): c.9580_9581delCC (p.Pro3194Asnfs)deletionPathogenicrs80359771GRCh37Chr 13, 32971113: 32971114
716BRCA2NM_000059.3(BRCA2): c.9599C> G (p.Ser3200Ter)single nucleotide variantPathogenicrs80359230GRCh37Chr 13, 32971132: 32971132
717BRCA2NM_000059.3(BRCA2): c.998dupT (p.His334Profs)duplicationPathogenicrs397507437GRCh37Chr 13, 32906613: 32906614
718BRCA2NM_000059.3(BRCA2): c.5482_5486delAAATT (p.Lys1828Valfs)deletionPathogenicrs80359516GRCh37Chr 13, 32913974: 32913978
719BRCA2NM_000059.3(BRCA2): c.100G> T (p.Glu34Ter)single nucleotide variantPathogenicrs80358391GRCh37Chr 13, 32893246: 32893246
720BRCA2NM_000059.3(BRCA2): c.1103C> A (p.Ser368Ter)single nucleotide variantPathogenicrs80358407GRCh37Chr 13, 32906718: 32906718
721BRCA2NM_000059.3(BRCA2): c.1128delT (p.Phe376Leufs)deletionPathogenicrs80359263GRCh37Chr 13, 32906743: 32906743
722BRCA2NM_000059.3(BRCA2): c.1147delA (p.Ile383Serfs)deletionPathogenicrs80359265GRCh37Chr 13, 32906762: 32906762
723BRCA2NM_000059.3(BRCA2): c.1153A> T (p.Lys385Ter)single nucleotide variantPathogenicrs80358411GRCh37Chr 13, 32906768: 32906768
724BRCA2NM_000059.3(BRCA2): c.1202C> G (p.Ser401Ter)single nucleotide variantPathogenicrs80358413GRCh37Chr 13, 32906817: 32906817
725BRCA2NM_000059.3(BRCA2): c.1219delC (p.Gln407Argfs)deletionPathogenicrs80359267GRCh37Chr 13, 32906834: 32906834
726BRCA2NM_000059.3(BRCA2): c.1225delG (p.Glu409Argfs)deletionPathogenicrs80359268GRCh37Chr 13, 32906840: 32906840
727BRCA2NM_000059.3(BRCA2): c.1233dupA (p.Pro412Thrfs)duplicationPathogenicrs80359270GRCh37Chr 13, 32906848: 32906849
728BRCA2NM_000059.3(BRCA2): c.1278delA (p.Asp427Thrfs)deletionPathogenicrs80359274GRCh37Chr 13, 32906893: 32906893
729BRCA2NM_000059.3(BRCA2): c.128delA (p.Asn43Ilefs)deletionPathogenicrs80359275GRCh37Chr 13, 32893274: 32893274
730BRCA2NM_000059.3(BRCA2): c.1307delA (p.Lys436Argfs)deletionPathogenicrs80359278GRCh37Chr 13, 32906922: 32906922
731BRCA2NM_000059.3(BRCA2): c.1389_1390delAG (p.Val464Glyfs)deletionPathogenicrs80359283GRCh37Chr 13, 32907004: 32907005
732BRCA2NM_000059.3(BRCA2): c.1411G> T (p.Glu471Ter)single nucleotide variantPathogenicrs80358428GRCh37Chr 13, 32907026: 32907026
733BRCA2NM_000059.3(BRCA2): c.1414C> T (p.Gln472Ter)single nucleotide variantPathogenicrs80358429GRCh37Chr 13, 32907029: 32907029
734BRCA2NM_000059.3(BRCA2): c.1456C> T (p.Gln486Ter)single nucleotide variantPathogenicrs80358434GRCh37Chr 13, 32907071: 32907071
735BRCA2NM_000059.3(BRCA2): c.1496_1497delAG (p.Gln499Argfs)deletionPathogenicrs80359285GRCh37Chr 13, 32907111: 32907112
736BRCA2NM_000059.3(BRCA2): c.1499delG (p.Gly500Valfs)deletionPathogenicrs397507591GRCh37Chr 13, 32907114: 32907114
737BRCA2NM_000059.3(BRCA2): c.1511_1512delCT (p.Ser504Tyrfs)deletionPathogenicrs80359286GRCh37Chr 13, 32907126: 32907127
738BRCA2NM_000059.3(BRCA2): c.151delG (p.Glu51Asnfs)deletionPathogenicrs80359287GRCh37Chr 13, 32893297: 32893297
739BRCA2NM_000059.3(BRCA2): c.1528G> T (p.Glu510Ter)single nucleotide variantPathogenicrs80358438GRCh37Chr 13, 32907143: 32907143
740BRCA2NM_000059.3(BRCA2): c.1547delT (p.Phe516Serfs)deletionPathogenicrs80359289GRCh37Chr 13, 32907162: 32907162
741BRCA2NM_000059.3(BRCA2): c.1595_1599delAAACT (p.Glu532Glyfs)deletionPathogenicrs80359291GRCh37Chr 13, 32907210: 32907214
742BRCA2NM_000059.3(BRCA2): c.1597delA (p.Thr533Leufs)deletionPathogenicrs80359292GRCh37Chr 13, 32907212: 32907212
743BRCA2NM_000059.3(BRCA2): c.1599_1600delTG (p.Glu534Serfs)deletionPathogenicrs80359293GRCh37Chr 13, 32907214: 32907215
744BRCA2NM_000059.3(BRCA2): c.1617delA (p.Leu540Trpfs)deletionPathogenicrs80359294GRCh37Chr 13, 32907232: 32907232
745BRCA2NM_000059.3(BRCA2): c.1631_1632delCT (p.Thr544Serfs)deletionPathogenicrs80359295GRCh37Chr 13, 32907246: 32907247
746BRCA2NM_000059.3(BRCA2): c.1670T> G (p.Leu557Ter)single nucleotide variantPathogenicrs80358452GRCh37Chr 13, 32907285: 32907285
747BRCA2NM_000059.3(BRCA2): c.1681G> T (p.Gly561Ter)single nucleotide variantPathogenicrs80358455GRCh37Chr 13, 32907296: 32907296
748BRCA2NM_000059.3(BRCA2): c.1689G> A (p.Trp563Ter)single nucleotide variantPathogenicrs80358456GRCh37Chr 13, 32907304: 32907304
749BRCA2NM_000059.3(BRCA2): c.1705delC (p.Gln569Argfs)deletionPathogenicrs80359300GRCh37Chr 13, 32907320: 32907320
750BRCA2NM_000059.3(BRCA2): c.170dupA (p.Tyr57Terfs)duplicationPathogenicrs80359299GRCh37Chr 13, 32893316: 32893317
751BRCA2NM_000059.3(BRCA2): c.1754delA (p.Lys585Argfs)deletionPathogenicrs80359301GRCh37Chr 13, 32907369: 32907369
752BRCA2NM_000059.3(BRCA2): c.1773_1776delTTAT (p.Ile591Metfs)deletionPathogenicrs80359305GRCh37Chr 13, 32907388: 32907391
753BRCA2NM_000059.3(BRCA2): c.1789G> T (p.Glu597Ter)single nucleotide variantPathogenicrs80358461GRCh37Chr 13, 32907404: 32907404
754BRCA2NM_000059.3(BRCA2): c.17_18delAA (p.Lys6Argfs)deletionPathogenicrs80359298GRCh37Chr 13, 32890614: 32890615
755BRCA2NM_000059.3(BRCA2): c.1800T> G (p.Tyr600Ter)single nucleotide variantPathogenicrs80358464GRCh37Chr 13, 32907415: 32907415
756BRCA2NM_000059.3(BRCA2): c.1815dupA (p.Pro606Thrfs)duplicationPathogenicrs80359310GRCh37Chr 13, 32907430: 32907431
757BRCA2NM_000059.3(BRCA2): c.1825C> T (p.Gln609Ter)single nucleotide variantPathogenicrs80358472GRCh37Chr 13, 32907440: 32907440
758BRCA2NM_000059.3(BRCA2): c.1831delT (p.Ser611Glnfs)deletionPathogenicrs80359311GRCh37Chr 13, 32907446: 32907446
759BRCA2NM_000059.3(BRCA2): c.1842dupT (p.Asn615Terfs)duplicationPathogenicrs80359312GRCh37Chr 13, 32907457: 32907458
760BRCA2NM_000059.3(BRCA2): c.1854delCinsAA (p.Gln619Thrfs)indelPathogenicrs276174815GRCh37Chr 13, 32907469: 32907469
761BRCA2NM_000059.3(BRCA2): c.1855C> T (p.Gln619Ter)single nucleotide variantPathogenicrs80358476GRCh37Chr 13, 32907470: 32907470
762BRCA2NM_000059.3(BRCA2): c.1888dupA (p.Thr630Asnfs)duplicationPathogenicrs80359314GRCh37Chr 13, 32907503: 32907504
763BRCA2NM_000059.3(BRCA2): c.1889delC (p.Thr630Asnfs)deletionPathogenicrs80359315GRCh37Chr 13, 32907504: 32907504
764BRCA2NM_000059.3(BRCA2): c.2026delT (p.Cys676Valfs)deletionPathogenicrs80359317GRCh37Chr 13, 32910518: 32910518
765BRCA2NM_000059.3(BRCA2): c.204delA (p.Lys68Asnfs)deletionPathogenicrs80359320GRCh37Chr 13, 32893350: 32893350
766BRCA2NM_000059.3(BRCA2): c.2064T> G (p.Tyr688Ter)single nucleotide variantPathogenicrs80358485GRCh37Chr 13, 32910556: 32910556
767BRCA2NM_000059.3(BRCA2): c.2084_2088delAGGAA (p.Glu696Thrfs)deletionPathogenicrs80359321GRCh37Chr 13, 32910576: 32910580
768BRCA2NM_000059.3(BRCA2): c.2094delA (p.Gln699Serfs)deletionPathogenicrs80359323GRCh37Chr 13, 32910586: 32910586
769BRCA2NM_000059.3(BRCA2): c.2103_2106delTATT (p.Phe701Leufs)deletionPathogenicrs80359324GRCh37Chr 13, 32910595: 32910598
770BRCA2NM_000059.3(BRCA2): c.2224C> T (p.Gln742Ter)single nucleotide variantPathogenicrs80358494GRCh37Chr 13, 32910716: 32910716
771BRCA2NM_000059.3(BRCA2): c.2254_2257delGACT (p.Asp752Phefs)deletionPathogenicrs80359326GRCh37Chr 13, 32910746: 32910749
772BRCA2NM_000059.3(BRCA2): c.227C> G (p.Ser76Ter)single nucleotide variantPathogenicrs80358498GRCh37Chr 13, 32893373: 32893373
773BRCA2NM_000059.3(BRCA2): c.2287delC (p.His763Metfs)deletionPathogenicrs80359327GRCh37Chr 13, 32910779: 32910779
774BRCA2NM_000059.3(BRCA2): c.22_23delAG (p.Arg8Alafs)deletionPathogenicrs397507623GRCh37Chr 13, 32890619: 32890620
775BRCA2NM_000059.3(BRCA2): c.2446delG (p.Glu816Lysfs)deletionPathogenicrs80359330GRCh37Chr 13, 32910938: 32910938
776BRCA2NM_000059.3(BRCA2): c.2450delA (p.Lys817Argfs)deletionPathogenicrs80359331GRCh37Chr 13, 32910942: 32910942
777BRCA2NM_000059.3(BRCA2): c.2471_2476delTAAATG (p.Leu824Ter)deletionPathogenicrs276174823GRCh37Chr 13, 32910963: 32910968
778BRCA2NM_000059.3(BRCA2): c.250C> T (p.Gln84Ter)single nucleotide variantPathogenicrs80358515GRCh37Chr 13, 32893396: 32893396
779BRCA2NM_000059.3(BRCA2): c.2537C> G (p.Ser846Ter)single nucleotide variantPathogenicrs80358518GRCh37Chr 13, 32911029: 32911029
780BRCA2NM_000059.3(BRCA2): c.2545delG (p.Val849Tyrfs)deletionPathogenicrs80359333GRCh37Chr 13, 32911037: 32911037
781BRCA2NM_000059.3(BRCA2): c.2564_2565delCA (p.Thr855Lysfs)deletionPathogenicrs80359334GRCh37Chr 13, 32911056: 32911057
782BRCA2NM_000059.3(BRCA2): c.2586_2592delAAATCAA (p.Asn863Lysfs)deletionPathogenicrs80359337GRCh37Chr 13, 32911078: 32911084
783BRCA2NM_000059.3(BRCA2): c.2603delC (p.Thr868Ilefs)deletionPathogenicrs276174824GRCh37Chr 13, 32911095: 32911095
784BRCA2NM_000059.3(BRCA2): c.2612C> A (p.Ser871Ter)single nucleotide variantPathogenicrs397507634GRCh37Chr 13, 32911104: 32911104
785BRCA2NM_000059.3(BRCA2): c.262_263delCT (p.Leu88Alafs)deletionPathogenicrs276174825GRCh37Chr 13, 32893408: 32893409
786BRCA2NM_000059.3(BRCA2): c.2636_2637delCT (p.Ser879Terfs)deletionPathogenicrs276174826GRCh37Chr 13, 32911128: 32911129
787BRCA2NM_000059.3(BRCA2): c.263delT (p.Leu88Argfs)deletionPathogenicrs80359339GRCh37Chr 13, 32893409: 32893409
788BRCA2NM_000059.3(BRCA2): c.2653_2656delGACA (p.Asp885Metfs)deletionPathogenicrs80359340GRCh37Chr 13, 32911145: 32911148
789BRCA2NM_000059.3(BRCA2): c.266delC (p.Pro89Argfs)deletionPathogenicrs80359341GRCh37Chr 13, 32893412: 32893412
790BRCA2NM_000059.3(BRCA2): c.2684delC (p.Ala895Valfs)deletionPathogenicrs80359342GRCh37Chr 13, 32911176: 32911176
791BRCA2NM_000059.3(BRCA2): c.2731delG (p.Glu911Lysfs)deletionPathogenicrs80359344GRCh37Chr 13, 32911223: 32911223
792BRCA2NM_000059.3(BRCA2): c.2760delC (p.Ile921Phefs)deletionPathogenicrs80359346GRCh37Chr 13, 32911252: 32911252
793BRCA2NM_000059.3(BRCA2): c.276dupA (p.Ser93Ilefs)duplicationPathogenicrs80359345GRCh37Chr 13, 32893422: 32893423
794BRCA2NM_000059.3(BRCA2): c.2786dupT (p.Leu929Phefs)duplicationPathogenicrs80359347GRCh37Chr 13, 32911278: 32911279
795BRCA2NM_000059.3(BRCA2): c.2798_2799delCA (p.Thr933Argfs)deletionPathogenicrs80359348GRCh37Chr 13, 32911290: 32911291
796BRCA2NM_000059.3(BRCA2): c.2798delC (p.Thr933Lysfs)deletionPathogenicrs80359349GRCh37Chr 13, 32911290: 32911290
797BRCA2NM_000059.3(BRCA2): c.2805_2808delTAAA (p.Ala938Profs)deletionPathogenicrs80359350GRCh37Chr 13, 32911297: 32911300
798BRCA2NM_000059.3(BRCA2): c.2810_2811delAA (p.Gln937Argfs)deletionPathogenicrs80359353GRCh37Chr 13, 32911302: 32911303
799BRCA2NM_000059.3(BRCA2): c.2812_2815delGCAA (p.Ala938Profs)deletionPathogenicrs80359354GRCh37Chr 13, 32911304: 32911307
800BRCA2NM_000059.3(BRCA2): c.2836_2837delGA (p.Asp946Phefs)deletionPathogenicrs80359357GRCh37Chr 13, 32911328: 32911329
801BRCA2NM_000059.3(BRCA2): c.2836delG (p.Asp946Ilefs)deletionPathogenicrs80359358GRCh37Chr 13, 32911328: 32911328
802BRCA2NM_000059.3(BRCA2): c.2881C> T (p.Gln961Ter)single nucleotide variantPathogenicrs80358538GRCh37Chr 13, 32911373: 32911373
803BRCA2NM_000059.3(BRCA2): c.289G> T (p.Glu97Ter)single nucleotide variantPathogenicrs397507646GRCh37Chr 13, 32893435: 32893435
804BRCA2NM_000059.3(BRCA2): c.2957dupA (p.Asn986Lysfs)duplicationPathogenicrs80359365GRCh37Chr 13, 32911449: 32911450
805BRCA2NM_000059.3(BRCA2): c.298A> T (p.Lys100Ter)single nucleotide variantPathogenicrs80358546GRCh37Chr 13, 32893444: 32893444
806BRCA2NM_000059.3(BRCA2): c.3051delC (p.Lys1018Serfs)deletionPathogenicrs80359367GRCh37Chr 13, 32911543: 32911543
807BRCA2NM_000059.3(BRCA2): c.3068dupA (p.Asn1023Lysfs)duplicationPathogenicrs80359368GRCh37Chr 13, 32911560: 32911561
808BRCA2NM_000059.3(BRCA2): c.3076A> T (p.Lys1026Ter)single nucleotide variantPathogenicrs80358552GRCh37Chr 13, 32911568: 32911568
809BRCA2NM_000059.3(BRCA2): c.3146delA (p.Asn1049Ilefs)deletionPathogenicrs80359370GRCh37Chr 13, 32911638: 32911638
810BRCA2NM_000059.3(BRCA2): c.314T> G (p.Leu105Ter)single nucleotide variantPathogenicrs80358561GRCh37Chr 13, 32893460: 32893460
811BRCA2NM_000059.3(BRCA2): c.316+5G> Asingle nucleotide variantPathogenicrs81002840GRCh37Chr 13, 32893467: 32893467
812BRCA2NM_000059.3(BRCA2): c.3166C> T (p.Gln1056Ter)single nucleotide variantPathogenicrs79728106GRCh37Chr 13, 32911658: 32911658
813BRCA2NM_000059.3(BRCA2): c.3167_3170delAAAA (p.Gln1056Argfs)deletionPathogenicrs80359372GRCh37Chr 13, 32911659: 32911662
814BRCA2NM_000059.3(BRCA2): c.3189_3192delGTCA (p.Ser1064Leufs)deletionPathogenicrs80359374GRCh37Chr 13, 32911681: 32911684
815BRCA2NM_000059.3(BRCA2): c.3195_3198delTAAT (p.Asn1066Leufs)deletionPathogenicrs80359376GRCh37Chr 13, 32911687: 32911690
816BRCA2NM_000059.3(BRCA2): c.3199delA (p.Thr1067Leufs)deletionPathogenicrs80359377GRCh37Chr 13, 32911691: 32911691
817BRCA2NM_000059.3(BRCA2): c.3202delG (p.Val1068Tyrfs)deletionPathogenicrs397507658GRCh37Chr 13, 32911694: 32911694
818BRCA2NM_000059.3(BRCA2): c.3228_3229delAG (p.Val1077Cysfs)deletionPathogenicrs80359378GRCh37Chr 13, 32911720: 32911721
819BRCA2NM_000059.3(BRCA2): c.3262_3263delCC (p.Pro1088Serfs)deletionPathogenicrs80359379GRCh37Chr 13, 32911754: 32911755
820BRCA2NM_000059.3(BRCA2): c.3265C> T (p.Gln1089Ter)single nucleotide variantPathogenicrs80358573GRCh37Chr 13, 32911757: 32911757
821BRCA2NM_000059.3(BRCA2): c.3269delT (p.Met1090Serfs)deletionPathogenicrs80359381GRCh37Chr 13, 32911761: 32911761
822BRCA2NM_000059.3(BRCA2): c.3273_3276delATTT (p.Leu1091Phefs)deletionPathogenicrs80359382GRCh37Chr 13, 32911765: 32911768
823BRCA2NM_000059.3(BRCA2): c.3277delT (p.Ser1093Profs)deletionPathogenicrs276174833GRCh37Chr 13, 32911769: 32911769
824BRCA2NM_000059.3(BRCA2): c.3294delT (p.Ser1099Glnfs)deletionPathogenicrs80359383GRCh37Chr 13, 32911786: 32911786
825BRCA2NM_000059.3(BRCA2): c.3319C> T (p.Gln1107Ter)single nucleotide variantPathogenicrs80358578GRCh37Chr 13, 32911811: 32911811
826BRCA2NM_000059.3(BRCA2): c.3354delA (p.Glu1119Lysfs)deletionPathogenicrs80359384GRCh37Chr 13, 32911846: 32911846
827BRCA2NM_000059.3(BRCA2): c.3381delT (p.Phe1127Leufs)deletionPathogenicrs397507666GRCh37Chr 13, 32911873: 32911873
828BRCA2NM_000059.3(BRCA2): c.3455T> G (p.Leu1152Ter)single nucleotide variantPathogenicrs80358593GRCh37Chr 13, 32911947: 32911947
829BRCA2NM_000059.3(BRCA2): c.3469G> T (p.Glu1157Ter)single nucleotide variantPathogenicrs80358595GRCh37Chr 13, 32911961: 32911961
830BRCA2NM_000059.3(BRCA2): c.3500_3501delTA (p.Ile1167Asnfs)deletionPathogenicrs80359387GRCh37Chr 13, 32911992: 32911993
831BRCA2NM_000059.3(BRCA2): c.3554_3555delCA (p.Thr1185Serfs)deletionPathogenicrs80359389GRCh37Chr 13, 32912046: 32912047
832BRCA2NM_000059.3(BRCA2): c.3570delG (p.Lys1191Serfs)deletionPathogenicrs80359390GRCh37Chr 13, 32912062: 32912062
833BRCA2NM_000059.3(BRCA2): c.3599_3600delGT (p.Cys1200Terfs)deletionPathogenicrs80359392GRCh37Chr 13, 32912091: 32912092
834BRCA2NM_000059.3(BRCA2): c.3638delA (p.Val1214Trpfs)deletionPathogenicrs80359394GRCh37Chr 13, 32912130: 32912130
835BRCA2NM_000059.3(BRCA2): c.3682_3685delAATG (p.Asn1228Phefs)deletionPathogenicrs80359396GRCh37Chr 13, 32912174: 32912177
836BRCA2NM_000059.3(BRCA2): c.3685delG (p.Val1229Phefs)deletionPathogenicrs80359397GRCh37Chr 13, 32912177: 32912177
837BRCA2NM_000059.3(BRCA2): c.36delT (p.Phe12Leufs)deletionPathogenicrs80359399GRCh37Chr 13, 32890633: 32890633
838BRCA2NM_000059.3(BRCA2): c.36dupT (p.Glu13Terfs)duplicationPathogenicrs80359393GRCh37Chr 13, 32890633: 32890634
839BRCA2NM_000059.3(BRCA2): c.3737delA (p.Asn1246Ilefs)deletionPathogenicrs80359402GRCh37Chr 13, 32912229: 32912229
840BRCA2NM_000059.3(BRCA2): c.3748G> T (p.Glu1250Ter)single nucleotide variantPathogenicrs80358615GRCh37Chr 13, 32912240: 32912240
841BRCA2NM_000059.3(BRCA2): c.37G> T (p.Glu13Ter)single nucleotide variantPathogenicrs80358622GRCh37Chr 13, 32890634: 32890634
842BRCA2NM_000059.3(BRCA2): c.3812C> A (p.Ser1271Ter)single nucleotide variantPathogenicrs80358623GRCh37Chr 13, 32912304: 32912304
843BRCA2NM_000059.3(BRCA2): c.3837delT (p.Asn1279Lysfs)deletionPathogenicrs80359404GRCh37Chr 13, 32912329: 32912329
844BRCA2NM_000059.3(BRCA2): c.3859_3860delAA (p.Asn1287Terfs)deletionPathogenicrs80359408GRCh37Chr 13, 32912351: 32912352
845BRCA2NM_000059.3(BRCA2): c.3860_3863delATAA (p.Asn1287Ilefs)deletionPathogenicrs80359410GRCh37Chr 13, 32912352: 32912355
846BRCA2NM_000059.3(BRCA2): c.3860delA (p.Asn1287Ilefs)deletionPathogenicrs80359411GRCh37Chr 13, 32912352: 32912352
847BRCA2NM_000059.3(BRCA2): c.3860dupA (p.Asn1287Lysfs)duplicationPathogenicrs80359409GRCh37Chr 13, 32912352: 32912353
848BRCA2NM_000059.3(BRCA2): c.3871C> T (p.Gln1291Ter)single nucleotide variantPathogenicrs80358631GRCh37Chr 13, 32912363: 32912363
849BRCA2NM_000059.3(BRCA2): c.3881T> A (p.Leu1294Ter)single nucleotide variantPathogenicrs80358632GRCh37Chr 13, 32912373: 32912373
850BRCA2NM_000059.3(BRCA2): c.3911delC (p.Thr1304Ilefs)deletionPathogenicrs80359415GRCh37Chr 13, 32912403: 32912403
851BRCA2NM_000059.3(BRCA2): c.3919delG (p.Glu1307Lysfs)deletionPathogenicrs80359416GRCh37Chr 13, 32912411: 32912411
852BRCA2NM_000059.3(BRCA2): c.3939C> A (p.Tyr1313Ter)single nucleotide variantPathogenicrs80358641GRCh37Chr 13, 32912431: 32912431
853BRCA2NM_000059.3(BRCA2): c.3939delC (p.Tyr1313Terfs)deletionPathogenicrs276174838GRCh37Chr 13, 32912431: 32912431
854BRCA2NM_000059.3(BRCA2): c.3956_3959delATGA (p.Asn1319Lysfs)deletionPathogenicrs80359417GRCh37Chr 13, 32912448: 32912451
855BRCA2NM_000059.3(BRCA2): c.3958G> T (p.Glu1320Ter)single nucleotide variantPathogenicrs80358644GRCh37Chr 13, 32912450: 32912450
856BRCA2NM_000059.3(BRCA2): c.3G> A (p.Met1Ile)single nucleotide variantPathogenicrs80358650GRCh37Chr 13, 32890600: 32890600
857BRCA2NM_000059.3(BRCA2): c.4001T> A (p.Leu1334Ter)single nucleotide variantPathogenicrs80358652GRCh37Chr 13, 32912493: 32912493
858BRCA2NM_000059.3(BRCA2): c.4037_4038delCT (p.Thr1346Serfs)deletionPathogenicrs80359421GRCh37Chr 13, 32912529: 32912530
859BRCA2NM_000059.3(BRCA2): c.4048_4051delCATA (p.His1350Lysfs)deletionPathogenicrs80359423GRCh37Chr 13, 32912540: 32912543
860BRCA2NM_000059.3(BRCA2): c.4076delC (p.Thr1359Metfs)deletionPathogenicrs80359424GRCh37Chr 13, 32912568: 32912568
861BRCA2NM_000059.3(BRCA2): c.4095T> A (p.Cys1365Ter)single nucleotide variantPathogenicrs80358658GRCh37Chr 13, 32912587: 32912587
862BRCA2NM_000059.3(BRCA2): c.410delC (p.Ser137Phefs)deletionPathogenicrs80359427GRCh37Chr 13, 32899306: 32899306
863BRCA2NM_000059.3(BRCA2): c.4130delA (p.Asn1377Thrfs)deletionPathogenicrs80359428GRCh37Chr 13, 32912622: 32912622
864BRCA2NM_000059.3(BRCA2): c.4133_4136delCTCA (p.Thr1378Argfs)deletionPathogenicrs80359430GRCh37Chr 13, 32912625: 32912628
865BRCA2NM_000059.3(BRCA2): c.4137_4141delGATTA (p.Ile1380Argfs)deletionPathogenicrs80359431GRCh37Chr 13, 32912629: 32912633
866BRCA2NM_000059.3(BRCA2): c.4169delT (p.Leu1390Trpfs)deletionPathogenicrs80359433GRCh37Chr 13, 32912661: 32912661
867BRCA2NM_000059.3(BRCA2): c.4218_4221delAGAA (p.Lys1406Asnfs)deletionPathogenicrs80359435GRCh37Chr 13, 32912710: 32912713
868BRCA2NM_000059.3(BRCA2): c.4258delG (p.Asp1420Ilefs)deletionPathogenicrs80359436GRCh37Chr 13, 32912750: 32912750
869BRCA2NM_000059.3(BRCA2): c.4271delC (p.Ser1424Leufs)deletionPathogenicrs80359437GRCh37Chr 13, 32912763: 32912763
870BRCA2NM_000059.3(BRCA2): c.4285C> T (p.Gln1429Ter)single nucleotide variantPathogenicrs80358665GRCh37Chr 13, 32912777: 32912777
871BRCA2NM_000059.3(BRCA2): c.4314delC (p.Ala1439Profs)deletionPathogenicrs80359441GRCh37Chr 13, 32912806: 32912806
872BRCA2NM_000059.3(BRCA2): c.4325C> A (p.Ser1442Ter)single nucleotide variantPathogenicrs80358670GRCh37Chr 13, 32912817: 32912817
873BRCA2NM_000059.3(BRCA2): c.4339delG (p.Val1447Terfs)deletionPathogenicrs80359443GRCh37Chr 13, 32912831: 32912831
874BRCA2NM_000059.3(BRCA2): c.4409_4410delTA (p.Ile1470Lysfs)deletionPathogenicrs80359446GRCh37Chr 13, 32912901: 32912902
875BRCA2NM_000059.3(BRCA2): c.4423delA (p.Met1475Trpfs)deletionPathogenicrs80359447GRCh37Chr 13, 32912915: 32912915
876BRCA2NM_000059.3(BRCA2): c.4456_4459delGTTA (p.Val1486Asnfs)deletionPathogenicrs80359450GRCh37Chr 13, 32912948: 32912951
877BRCA2NM_000059.3(BRCA2): c.4471_4474delCTGA (p.Leu1491Lysfs)deletionPathogenicrs80359451GRCh37Chr 13, 32912963: 32912966
878BRCA2NM_000059.3(BRCA2): c.4525C> T (p.Gln1509Ter)single nucleotide variantPathogenicrs80358683GRCh37Chr 13, 32913017: 32913017
879BRCA2NM_000059.3(BRCA2): c.4546dupA (p.Ile1516Asnfs)duplicationPathogenicrs80359456GRCh37Chr 13, 32913038: 32913039
880BRCA2NM_000059.3(BRCA2): c.4554delA (p.Glu1518Aspfs)deletionPathogenicrs80359458GRCh37Chr 13, 32913046: 32913046
881BRCA2NM_000059.3(BRCA2): c.4588A> T (p.Lys1530Ter)single nucleotide variantPathogenicrs80358692GRCh37Chr 13, 32913080: 32913080
882BRCA2NM_000059.3(BRCA2): c.4593dupA (p.Val1532Serfs)duplicationPathogenicrs397507732GRCh37Chr 13, 32913085: 32913086
883BRCA2NM_000059.3(BRCA2): c.462_463delAA (p.Asp156Terfs)deletionPathogenicrs80359459GRCh37Chr 13, 32900274: 32900275
884BRCA2NM_000059.3(BRCA2): c.469_470delAA (p.Lys157Valfs)deletionPathogenicrs397507739GRCh37Chr 13, 32900281: 32900282
885BRCA2NM_000059.3(BRCA2): c.4708_4709delAG (p.Glu1571Glyfs)deletionPathogenicrs80359464GRCh37Chr 13, 32913200: 32913201
886BRCA2NM_000059.3(BRCA2): c.4731_4736delATTAGCinsG (p.Leu1578Metfs)indelPathogenicrs276174846GRCh37Chr 13, 32913223: 32913228
887BRCA2NM_000059.3(BRCA2): c.4742_4743insTG (p.Glu1581Aspfs)insertionPathogenicrs276174847GRCh37Chr 13, 32913234: 32913235
888BRCA2NM_000059.3(BRCA2): c.475+1G> Asingle nucleotide variantPathogenicrs81002797GRCh37Chr 13, 32900288: 32900288
889BRCA2NM_000059.3(BRCA2): c.475+1G> Tsingle nucleotide variantPathogenicrs81002797GRCh37Chr 13, 32900288: 32900288
890BRCA2NM_000059.3(BRCA2): c.475G> A (p.Val159Met)single nucleotide variantPathogenicrs80358702GRCh37Chr 13, 32900287: 32900287
891BRCA2NM_000059.3(BRCA2): c.4797delT (p.Asn1599Lysfs)deletionPathogenicrs80359465GRCh37Chr 13, 32913289: 32913289
892BRCA2NM_000059.3(BRCA2): c.4808dupA (p.Asn1603Lysfs)duplicationPathogenicrs80359466GRCh37Chr 13, 32913300: 32913301
893BRCA2NM_000059.3(BRCA2): c.4829_4830delTG (p.Val1610Glyfs)deletionPathogenicrs80359468GRCh37Chr 13, 32913321: 32913322
894BRCA2NM_000059.3(BRCA2): c.4845_4846delCT (p.Leu1616Lysfs)deletionPathogenicrs80359469GRCh37Chr 13, 32913337: 32913338
895BRCA2NM_000059.3(BRCA2): c.4859T> G (p.Leu1620Ter)single nucleotide variantPathogenicrs80358710GRCh37Chr 13, 32913351: 32913351
896BRCA2NM_000059.3(BRCA2): c.491T> A (p.Leu164Ter)single nucleotide variantPathogenicrs80358717GRCh37Chr 13, 32900394: 32900394
897BRCA2NM_000059.3(BRCA2): c.4933A> T (p.Lys1645Ter)single nucleotide variantPathogenicrs80358719GRCh37Chr 13, 32913425: 32913425
898BRCA2NM_000059.3(BRCA2): c.4935delA (p.Glu1646Lysfs)deletionPathogenicrs80359472GRCh37Chr 13, 32913427: 32913427
899BRCA2NM_000059.3(BRCA2): c.4965C> A (p.Tyr1655Ter)single nucleotide variantPathogenicrs80358721GRCh37Chr 13, 32913457: 32913457
900BRCA2NM_000059.3(BRCA2): c.4965delC (p.Tyr1655Terfs)deletionPathogenicrs80359475GRCh37Chr 13, 32913457: 32913457
901BRCA2NM_000059.3(BRCA2): c.5065_5066delGCinsAAA (p.Ala1689Lysfs)indelPathogenicrs276174852GRCh37Chr 13, 32913557: 32913558
902BRCA2NM_000059.3(BRCA2): c.5073delA (p.Lys1691Asnfs)deletionPathogenicrs80359481GRCh37Chr 13, 32913565: 32913565
903BRCA2NM_000059.3(BRCA2): c.5107G> T (p.Glu1703Ter)single nucleotide variantPathogenicrs80358735GRCh37Chr 13, 32913599: 32913599
904BRCA2NM_000059.3(BRCA2): c.5131_5134delGTAG (p.Val1711Glufs)deletionPathogenicrs80359486GRCh37Chr 13, 32913623: 32913626
905BRCA2NM_000059.3(BRCA2): c.5141_5144delATTT (p.Tyr1714Cysfs)deletionPathogenicrs80359487GRCh37Chr 13, 32913633: 32913636
906BRCA2NM_000059.3(BRCA2): c.5157_5161delTTCAA (p.Asn1719Lysfs)deletionPathogenicrs80359488GRCh37Chr 13, 32913649: 32913653
907BRCA2NM_000059.3(BRCA2): c.5159C> G (p.Ser1720Ter)single nucleotide variantPathogenicrs80358740GRCh37Chr 13, 32913651: 32913651
908BRCA2NM_000059.3(BRCA2): c.5164_5165delAG (p.Ser1722Tyrfs)deletionPathogenicrs80359490GRCh37Chr 13, 32913656: 32913657
909BRCA2NM_000059.3(BRCA2): c.517-2A> Gsingle nucleotide variantPathogenicrs81002858GRCh37Chr 13, 32900634: 32900634
910BRCA2NM_000059.3(BRCA2): c.5180delA (p.Asn1727Metfs)deletionPathogenicrs80359491GRCh37Chr 13, 32913672: 32913672
911BRCA2NM_000059.3(BRCA2): c.5217T> A (p.Tyr1739Ter)single nucleotide variantPathogenicrs80358746GRCh37Chr 13, 32913709: 32913709
912BRCA2NM_000059.3(BRCA2): c.5217_5220delTTTA (p.Tyr1739Terfs)deletionPathogenicrs80359494GRCh37Chr 13, 32913709: 32913712
913BRCA2NM_000059.3(BRCA2): c.5217_5221delTTTAA (p.Tyr1739Terfs)deletionPathogenicrs80359495GRCh37Chr 13, 32913709: 32913713
914BRCA2NM_000059.3(BRCA2): c.5217_5224delTTTAAGTA (p.Tyr1739Terfs)deletionPathogenicrs80359497GRCh37Chr 13, 32913709: 32913716
915BRCA2NM_000059.3(BRCA2): c.5286T> A (p.Tyr1762Ter)single nucleotide variantPathogenicrs80358754GRCh37Chr 13, 32913778: 32913778
916BRCA2NM_000059.3(BRCA2): c.5344C> T (p.Gln1782Ter)single nucleotide variantPathogenicrs80358757GRCh37Chr 13, 32913836: 32913836
917BRCA2NM_000059.3(BRCA2): c.5344_5345delCA (p.Gln1782Lysfs)deletionPathogenicrs80359506GRCh37Chr 13, 32913836: 32913837
918BRCA2NM_000059.3(BRCA2): c.538_539delAT (p.Ile180Phefs)deletionPathogenicrs80359510GRCh37Chr 13, 32900657: 32900658
919BRCA2NM_000059.3(BRCA2): c.539delT (p.Ser181Leufs)deletionPathogenicrs276174857GRCh37Chr 13, 32900658: 32900658
920BRCA2NM_000059.3(BRCA2): c.5404C> T (p.Gln1802Ter)single nucleotide variantPathogenicrs80358763GRCh37Chr 13, 32913896: 32913896
921BRCA2NM_000059.3(BRCA2): c.5428G> A (p.Val1810Ile)single nucleotide variantPathogenicrs80358766GRCh37Chr 13, 32913920: 32913920
922BRCA2NM_000059.3(BRCA2): c.5434G> T (p.Glu1812Ter)single nucleotide variantPathogenicrs80358767GRCh37Chr 13, 32913926: 32913926
923BRCA2NM_000059.3(BRCA2): c.5466dupT (p.Lys1823Terfs)duplicationPathogenicrs80359514GRCh37Chr 13, 32913958: 32913959
924BRCA2NM_000059.3(BRCA2): c.5526delT (p.Ala1843Hisfs)deletionPathogenicrs80359518GRCh37Chr 13, 32914018: 32914018
925BRCA2NM_000059.3(BRCA2): c.5569G> T (p.Glu1857Ter)single nucleotide variantPathogenicrs80358778GRCh37Chr 13, 32914061: 32914061
926BRCA2NM_000059.3(BRCA2): c.5577_5580delTAAA (p.Lys1861Terfs)deletionPathogenicrs80359522GRCh37Chr 13, 32914069: 32914072
927BRCA2NM_000059.3(BRCA2): c.5585_5588delTGAA (p.Val1862Glufs)deletionPathogenicrs80359523GRCh37Chr 13, 32914077: 32914080
928BRCA2NM_000059.3(BRCA2): c.5641_5644delAAAT (p.Lys1881Glnfs)deletionPathogenicrs276174860GRCh37Chr 13, 32914133: 32914136
929BRCA2NM_000059.3(BRCA2): c.5656C> T (p.Gln1886Ter)single nucleotide variantPathogenicrs80358790GRCh37Chr 13, 32914148: 32914148
930BRCA2NM_000059.3(BRCA2): c.5702_5703delAG (p.Glu1901Glyfs)deletionPathogenicrs80359528GRCh37Chr 13, 32914194: 32914195
931BRCA2NM_000059.3(BRCA2): c.5717_5718delAC (p.Asn1906Ilefs)deletionPathogenicrs80359529GRCh37Chr 13, 32914209: 32914210
932BRCA2NM_000059.3(BRCA2): c.5718_5721delCTCT (p.Ser1907Terfs)deletionPathogenicrs276174862GRCh37Chr 13, 32914210: 32914213
933BRCA2NM_000059.3(BRCA2): c.5724delA (p.Asp1909Ilefs)deletionPathogenicrs80359532GRCh37Chr 13, 32914216: 32914216
934BRCA2NM_000059.3(BRCA2): c.5763dupT (p.Ala1922Cysfs)duplicationPathogenicrs80359534GRCh37Chr 13, 32914255: 32914256
935BRCA2NM_000059.3(BRCA2): c.5771_5774delTTCA (p.Ile1924Argfs)deletionPathogenicrs80359535GRCh37Chr 13, 32914263: 32914266
936BRCA2NM_000059.3(BRCA2): c.5773C> T (p.Gln1925Ter)single nucleotide variantPathogenicrs80358806GRCh37Chr 13, 32914265: 32914265
937BRCA2NM_000059.3(BRCA2): c.5778_5779delTG (p.Ser1926Argfs)deletionPathogenicrs80359536GRCh37Chr 13, 32914270: 32914271
938BRCA2NM_000059.3(BRCA2): c.5782G> A (p.Glu1928Lys)single nucleotide variantPathogenicrs56253082GRCh37Chr 13, 32914274: 32914274
939BRCA2NM_000059.3(BRCA2): c.581G> A (p.Trp194Ter)single nucleotide variantPathogenicrs80358809GRCh37Chr 13, 32900700: 32900700
940BRCA2NM_000059.3(BRCA2): c.5820_5833delGAAAGTTTCTAAAA (p.Glu1940Aspfs)deletionPathogenicrs80359539GRCh37Chr 13, 32914312: 32914325
941BRCA2NM_000059.3(BRCA2): c.5823delA (p.Val1942Phefs)deletionPathogenicrs80359540GRCh37Chr 13, 32914315: 32914315
942BRCA2NM_000059.3(BRCA2): c.5836_5837insA (p.Ser1946Tyrfs)insertionPathogenicrs80359542GRCh37Chr 13, 32914328: 32914329
943BRCA2NM_000059.3(BRCA2): c.5857delG (p.Glu1953Lysfs)deletionPathogenicrs80359545GRCh37Chr 13, 32914349: 32914349
944BRCA2NM_000059.3(BRCA2): c.5864C> A (p.Ser1955Ter)single nucleotide variantPathogenicrs80358815GRCh37Chr 13, 32914356: 32914356
945BRCA2NM_000059.3(BRCA2): c.5890delA (p.Lys1964Serfs)deletionPathogenicrs276174864GRCh37Chr 13, 32914382: 32914382
946BRCA2NM_000059.3(BRCA2): c.5904_5907delAGTC (p.Val1969Hisfs)deletionPathogenicrs80359547GRCh37Chr 13, 32914396: 32914399
947BRCA2NM_000059.3(BRCA2): c.5925T> A (p.Cys1975Ter)single nucleotide variantPathogenicrs80358825GRCh37Chr 13, 32914417: 32914417
948BRCA2NM_000059.3(BRCA2): c.5946_5949delTGGA (p.Ser1982Argfs)deletionPathogenicrs80359549GRCh37Chr 13, 32914438: 32914441
949BRCA2NM_000059.3(BRCA2): c.5959C> T (p.Gln1987Ter)single nucleotide variantPathogenicrs80358828GRCh37Chr 13, 32914451: 32914451
950BRCA2NM_000059.3(BRCA2): c.5967dupA (p.Asp1990Argfs)duplicationPathogenicrs276174865GRCh37Chr 13, 32914459: 32914460
951BRCA2NM_000059.3(BRCA2): c.5968_5969delGA (p.Asp1990Cysfs)deletionPathogenicrs80359552GRCh37Chr 13, 32914460: 32914461
952BRCA2NM_000059.3(BRCA2): c.6001delT (p.Ser2001Leufs)deletionPathogenicrs80359553GRCh37Chr 13, 32914493: 32914493
953BRCA2NM_000059.3(BRCA2): c.6025C> T (p.Gln2009Ter)single nucleotide variantPathogenicrs80358838GRCh37Chr 13, 32914517: 32914517
954BRCA2NM_000059.3(BRCA2): c.6065C> G (p.Ser2022Ter)single nucleotide variantPathogenicrs80358843GRCh37Chr 13, 32914557: 32914557
955BRCA2NM_000059.3(BRCA2): c.6068_6072delACCAG (p.Asp2023Alafs)deletionPathogenicrs80359555GRCh37Chr 13, 32914560: 32914564
956BRCA2NM_000059.3(BRCA2): c.6070C> T (p.Gln2024Ter)single nucleotide variantPathogenicrs80358844GRCh37Chr 13, 32914562: 32914562
957BRCA2NM_000059.3(BRCA2): c.6071delA (p.Gln2024Argfs)deletionPathogenicrs80359556GRCh37Chr 13, 32914563: 32914563
958BRCA2NM_000059.3(BRCA2): c.6078_6079delAA (p.Glu2028Argfs)deletionPathogenicrs80359557GRCh37Chr 13, 32914570: 32914571
959BRCA2NM_000059.3(BRCA2): c.6103delA (p.Thr2035Leufs)deletionPathogenicrs80359559GRCh37Chr 13, 32914595: 32914595
960BRCA2NM_000059.3(BRCA2): c.610delC (p.Ser205Valfs)deletionPathogenicrs80359560GRCh37Chr 13, 32900729: 32900729
961BRCA2NM_000059.3(BRCA2): c.6124C> T (p.Gln2042Ter)single nucleotide variantPathogenicrs80358851GRCh37Chr 13, 32914616: 32914616
962BRCA2NM_000059.3(BRCA2): c.6129dupA (p.Gly2044Argfs)duplicationPathogenicrs80359561GRCh37Chr 13, 32914621: 32914622
963BRCA2NM_000059.3(BRCA2): c.6154delT (p.Ser2052Hisfs)deletionPathogenicrs80359562GRCh37Chr 13, 32914646: 32914646
964BRCA2NM_000059.3(BRCA2): c.6169G> T (p.Gly2057Ter)single nucleotide variantPathogenicrs80358856GRCh37Chr 13, 32914661: 32914661
965BRCA2NM_000059.3(BRCA2): c.6178delA (p.Thr2060Glnfs)deletionPathogenicrs80359563GRCh37Chr 13, 32914670: 32914670
966BRCA2NM_000059.3(BRCA2): c.6198_6199delTT (p.Ser2067Hisfs)deletionPathogenicrs80359564GRCh37Chr 13, 32914690: 32914691
967BRCA2NM_000059.3(BRCA2): c.6201delC (p.Ile2068Phefs)deletionPathogenicrs80359565GRCh37Chr 13, 32914693: 32914693
968BRCA2NM_000059.3(BRCA2): c.6209_6212delAAAG (p.Glu2070Valfs)deletionPathogenicrs276174866GRCh37Chr 13, 32914701: 32914704
969BRCA2NM_000059.3(BRCA2): c.6220_6222delCACinsAA (p.His2074Lysfs)indelPathogenicrs276174867GRCh37Chr 13, 32914712: 32914714
970BRCA2NM_000059.3(BRCA2): c.6238delT (p.Leu2080Terfs)deletionPathogenicrs80359569GRCh37Chr 13, 32914730: 32914730
971BRCA2NM_000059.3(BRCA2): c.6239T> G (p.Leu2080Ter)single nucleotide variantPathogenicrs80358864GRCh37Chr 13, 32914731: 32914731
972BRCA2NM_000059.3(BRCA2): c.6240dupA (p.Glu2081Argfs)duplicationPathogenicrs80359570GRCh37Chr 13, 32914732: 32914733
973BRCA2NM_000059.3(BRCA2): c.6270_6271delTA (p.His2090Glnfs)deletionPathogenicrs80359571GRCh37Chr 13, 32914762: 32914763
974BRCA2NM_000059.3(BRCA2): c.6280_6286delTATTCAC (p.Tyr2094Leufs)deletionPathogenicrs80359572GRCh37Chr 13, 32914772: 32914778
975BRCA2NM_000059.3(BRCA2): c.6282_6289delTTCACCTA (p.Ser2095Valfs)deletionPathogenicrs80359573GRCh37Chr 13, 32914774: 32914781
976BRCA2NM_000059.3(BRCA2): c.6308C> A (p.Ser2103Ter)single nucleotide variantPathogenicrs80358870GRCh37Chr 13, 32914800: 32914800
977BRCA2NM_000059.3(BRCA2): c.631G> A (p.Val211Ile)single nucleotide variantPathogenicrs80358871GRCh37Chr 13, 32900750: 32900750
978BRCA2NM_000059.3(BRCA2): c.632-1G> Csingle nucleotide variantPathogenicrs81002820GRCh37Chr 13, 32903579: 32903579
979BRCA2NM_000059.3(BRCA2): c.6325_6326delGT (p.Val2109Terfs)deletionPathogenicrs276174871GRCh37Chr 13, 32914817: 32914818
980BRCA2NM_000059.3(BRCA2): c.6335_6336delGA (p.Arg2112Lysfs)deletionPathogenicrs80359574GRCh37Chr 13, 32914827: 32914828
981BRCA2NM_000059.3(BRCA2): c.634_635delAG (p.Arg212Lysfs)deletionPathogenicrs80359575GRCh37Chr 13, 32903582: 32903583
982BRCA2NM_000059.3(BRCA2): c.6352_6353delGT (p.Val2118Lysfs)deletionPathogenicrs80359576GRCh37Chr 13, 32914844: 32914845
983BRCA2NM_000059.3(BRCA2): c.6373delA (p.Thr2125Profs)deletionPathogenicrs80359578GRCh37Chr 13, 32914865: 32914865
984BRCA2NM_000059.3(BRCA2): c.6382A> T (p.Lys2128Ter)single nucleotide variantPathogenicrs80358875GRCh37Chr 13, 32914874: 32914874
985BRCA2NM_000059.3(BRCA2): c.63delA (p.Ala22Glnfs)deletionPathogenicrs80359582GRCh37Chr 13, 32890660: 32890660
986BRCA2NM_000059.3(BRCA2): c.6401_6404delATAA (p.Asn2134Thrfs)deletionPathogenicrs80359583GRCh37Chr 13, 32914893: 32914896
987BRCA2NM_000059.3(BRCA2): c.6407_6411delTAAAT (p.Leu2136Cysfs)deletionPathogenicrs80359586GRCh37Chr 13, 32914899: 32914903
988BRCA2NM_000059.3(BRCA2): c.6431delA (p.Asn2145Ilefs)deletionPathogenicrs80359587GRCh37Chr 13, 32914923: 32914923
989BRCA2NM_000059.3(BRCA2): c.6443_6444delCT (p.Ser2148Tyrfs)deletionPathogenicrs80359589GRCh37Chr 13, 32914935: 32914936
990BRCA2NM_000059.3(BRCA2): c.6444_6447delTATT (p.Ile2149Lysfs)deletionPathogenicrs80359591GRCh37Chr 13, 32914936: 32914939
991BRCA2NM_000059.3(BRCA2): c.6445_6446delAT (p.Ile2149Terfs)deletionPathogenicrs80359592GRCh37Chr 13, 32914937: 32914938
992BRCA2NM_000059.3(BRCA2): c.6446_6450delTTAAA (p.Ile2149Serfs)deletionPathogenicrs80359593GRCh37Chr 13, 32914938: 32914942
993BRCA2NM_000059.3(BRCA2): c.6449_6450delAA (p.Lys2150Serfs)deletionPathogenicrs80359594GRCh37Chr 13, 32914941: 32914942
994BRCA2NM_000059.3(BRCA2): c.6450dupA (p.Val2151Serfs)duplicationPathogenicrs80359595GRCh37Chr 13, 32914942: 32914943
995BRCA2NM_000059.3(BRCA2): c.6462T> G (p.Tyr2154Ter)single nucleotide variantPathogenicrs80358883GRCh37Chr 13, 32914954: 32914954
996BRCA2NM_000059.3(BRCA2): c.6490delC (p.Gln2164Serfs)deletionPathogenicrs80359599GRCh37Chr 13, 32914982: 32914982
997BRCA2NM_000059.3(BRCA2): c.6494delT (p.Leu2165Trpfs)deletionPathogenicrs276174874GRCh37Chr 13, 32914986: 32914986
998BRCA2NM_000059.3(BRCA2): c.6509_6510delAA (p.Lys2170Serfs)deletionPathogenicrs80359600GRCh37Chr 13, 32915001: 32915002
999BRCA2NM_000059.3(BRCA2): c.652G> T (p.Glu218Ter)single nucleotide variantPathogenicrs80358884GRCh37Chr 13, 32903600: 32903600
1000BRCA2NM_000059.3(BRCA2): c.6553delG (p.Ala2185Leufs)deletionPathogenicrs80359603GRCh37Chr 13, 32915045: 32915045
1001BRCA2NM_000059.3(BRCA2): c.6600_6601delTT (p.Ser2201Terfs)deletionPathogenicrs80359607GRCh37Chr 13, 32915092: 32915093
1002BRCA2NM_000059.3(BRCA2): c.6603_6604delTG (p.Asp2202Cysfs)deletionPathogenicrs80359608GRCh37Chr 13, 32915095: 32915096
1003BRCA2NM_000059.3(BRCA2): c.6626_6627delTA (p.Ile2209Argfs)deletionPathogenicrs80359610GRCh37Chr 13, 32915118: 32915119
1004BRCA2NM_000059.3(BRCA2): c.6629_6630delAA (p.Glu2210Glyfs)deletionPathogenicrs80359611GRCh37Chr 13, 32915121: 32915122
1005BRCA2NM_000059.3(BRCA2): c.662_663delTT (p.Phe221Serfs)deletionPathogenicrs80359609GRCh37Chr 13, 32903610: 32903611
1006BRCA2NM_000059.3(BRCA2): c.6638delC (p.Ser2213Leufs)deletionPathogenicrs80359612GRCh37Chr 13, 32915130: 32915130
1007BRCA2NM_000059.3(BRCA2): c.6643delT (p.Tyr2215Thrfs)deletionPathogenicrs80359614GRCh37Chr 13, 32915135: 32915135
1008BRCA2NM_000059.3(BRCA2): c.6644dupA (p.Tyr2215Terfs)duplicationPathogenicrs80359615GRCh37Chr 13, 32915136: 32915137
1009BRCA2NM_000059.3(BRCA2): c.6656C> G (p.Ser2219Ter)single nucleotide variantPathogenicrs80358893GRCh37Chr 13, 32915148: 32915148
1010BRCA2NM_000059.3(BRCA2): c.6658_6661delGAAA (p.Glu2220Thrfs)deletionPathogenicrs80359617GRCh37Chr 13, 32915150: 32915153
1011BRCA2NM_000059.3(BRCA2): c.6673delA (p.Thr2225Glnfs)deletionPathogenicrs276174875GRCh37Chr 13, 32915165: 32915165
1012BRCA2NM_000059.3(BRCA2): c.6676_6677delGA (p.Glu2226Serfs)deletionPathogenicrs80359619GRCh37Chr 13, 32915168: 32915169
1013BRCA2NM_000059.3(BRCA2): c.6678delA (p.Ala2227Glnfs)deletionPathogenicrs80359620GRCh37Chr 13, 32915170: 32915170
1014BRCA2NM_000059.3(BRCA2): c.6682dupG (p.Val2228Glyfs)duplicationPathogenicrs80359621GRCh37Chr 13, 32915174: 32915175
1015BRCA2NM_000059.3(BRCA2): c.67+1G> Asingle nucleotide variantPathogenicrs81002796GRCh37Chr 13, 32890665: 32890665
1016BRCA2NM_000059.3(BRCA2): c.67+1G> Tsingle nucleotide variantPathogenicrs81002796GRCh37Chr 13, 32890665: 32890665
1017BRCA2NM_000059.3(BRCA2): c.67+2T> Asingle nucleotide variantPathogenicrs81002885GRCh37Chr 13, 32890666: 32890666
1018BRCA2NM_000059.3(BRCA2): c.67+2T> Csingle nucleotide variantPathogenicrs81002885GRCh37Chr 13, 32890666: 32890666
1019BRCA2NM_000059.3(BRCA2): c.6715G> T (p.Glu2239Ter)single nucleotide variantPathogenicrs276174876GRCh37Chr 13, 32915207: 32915207
1020BRCA2NM_000059.3(BRCA2): c.6743_6755delATGCCACACATTC (p.His2248Leufs)deletionPathogenicrs80359622GRCh37Chr 13, 32915235: 32915247
1021BRCA2NM_000059.3(BRCA2): c.6754dupT (p.Ser2252Phefs)duplicationPathogenicrs180670511GRCh37Chr 13, 32915246: 32915247
1022BRCA2NM_000059.3(BRCA2): c.6757_6758delCT (p.Leu2253Phefs)deletionPathogenicrs80359623GRCh37Chr 13, 32915249: 32915250
1023BRCA2NM_000059.3(BRCA2): c.6761_6762delTT (p.Phe2254Tyrfs)deletionPathogenicrs80359624GRCh37Chr 13, 32915253: 32915254
1024BRCA2NM_000059.3(BRCA2): c.6768T> A (p.Cys2256Ter)single nucleotide variantPathogenicrs80358901GRCh37Chr 13, 32915260: 32915260
1025BRCA2NM_000059.3(BRCA2): c.6809delG (p.Gly2270Glufs)deletionPathogenicrs80359625GRCh37Chr 13, 32915301: 32915301
1026BRCA2NM_000059.3(BRCA2): c.682-1G> Csingle nucleotide variantPathogenicrs81002831GRCh37Chr 13, 32905055: 32905055
1027BRCA2NM_000059.3(BRCA2): c.6833_6837delTCTTA (p.Ile2278Serfs)deletionPathogenicrs80359627GRCh37Chr 13, 32915325: 32915329
1028BRCA2NM_000059.3(BRCA2): c.6938-2A> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs81002863GRCh37Chr 13, 32920962: 32920962
1029BRCA2NM_000059.3(BRCA2): c.696delT (p.Ser234Profs)deletionPathogenicrs80359630GRCh37Chr 13, 32905070: 32905070
1030BRCA2NM_000059.3(BRCA2): c.6990_6994delTACCT (p.Ile2330Metfs)deletionPathogenicrs80359631GRCh37Chr 13, 32921016: 32921020
1031BRCA2NM_000059.3(BRCA2): c.7003_7007delTTTCG (p.Phe2335Hisfs)deletionPathogenicrs80359632GRCh37Chr 13, 32921029: 32921033
1032BRCA2NM_000059.3(BRCA2): c.7007G> C (p.Arg2336Pro)single nucleotide variantPathogenicrs28897743GRCh37Chr 13, 32921033: 32921033
1033BRCA2NM_000059.3(BRCA2): c.7007G> T (p.Arg2336Leu)single nucleotide variantPathogenicrs28897743GRCh37Chr 13, 32921033: 32921033
1034BRCA2NM_000059.3(BRCA2): c.7008-2A> Gsingle nucleotide variantPathogenicrs81002823GRCh37Chr 13, 32928996: 32928996
1035BRCA2NM_000059.3(BRCA2): c.7008-2A> Tsingle nucleotide variantPathogenicrs81002823GRCh37Chr 13, 32928996: 32928996
1036BRCA2NM_000059.3(BRCA2): c.7024C> T (p.Gln2342Ter)single nucleotide variantPathogenicrs80358928GRCh37Chr 13, 32929014: 32929014
1037BRCA2NM_000059.3(BRCA2): c.7025_7026delAA (p.Gln2342Argfs)deletionPathogenicrs80359634GRCh37Chr 13, 32929015: 32929016
1038BRCA2NM_000059.3(BRCA2): c.7032dupA (p.Gln2345Thrfs)duplicationPathogenicrs80359635GRCh37Chr 13, 32929022: 32929023
1039BRCA2NM_000059.3(BRCA2): c.7060C> T (p.Gln2354Ter)single nucleotide variantPathogenicrs80358936GRCh37Chr 13, 32929050: 32929050
1040BRCA2NM_000059.3(BRCA2): c.7108_7109delAA (p.Lys2370Ilefs)deletionPathogenicrs80359638GRCh37Chr 13, 32929098: 32929099
1041BRCA2NM_000059.3(BRCA2): c.7110delA (p.Lys2370Asnfs)deletionPathogenicrs397507897GRCh37Chr 13, 32929100: 32929100
1042BRCA2NM_000059.3(BRCA2): c.7115C> G (p.Ser2372Ter)single nucleotide variantPathogenicrs80358943GRCh37Chr 13, 32929105: 32929105
1043BRCA2NM_000059.3(BRCA2): c.7151_7152delAA (p.Gln2384Argfs)deletionPathogenicrs276174890GRCh37Chr 13, 32929141: 32929142
1044BRCA2NM_000059.3(BRCA2): c.7156dupT (p.Ser2386Phefs)duplicationPathogenicrs80359639GRCh37Chr 13, 32929146: 32929147
1045BRCA2NM_000059.3(BRCA2): c.7208_7211delCCAA (p.Thr2403Lysfs)deletionPathogenicrs80359641GRCh37Chr 13, 32929198: 32929201
1046BRCA2NM_000059.3(BRCA2): c.7211_7212delAA (p.Lys2404Serfs)deletionPathogenicrs80359642GRCh37Chr 13, 32929201: 32929202
1047BRCA2NM_000059.3(BRCA2): c.7226delC (p.Pro2409Leufs)deletionPathogenicrs80359643GRCh37Chr 13, 32929216: 32929216
1048BRCA2NM_000059.3(BRCA2): c.7241C> G (p.Ser2414Ter)single nucleotide variantPathogenicrs80358951GRCh37Chr 13, 32929231: 32929231
1049BRCA2NM_000059.3(BRCA2): c.7251_7252delCA (p.His2417Glnfs)deletionPathogenicrs397507907GRCh37Chr 13, 32929241: 32929242
1050BRCA2NM_000059.3(BRCA2): c.7254_7255delAG (p.Arg2418Serfs)deletionPathogenicrs80359644GRCh37Chr 13, 32929244: 32929245
1051BRCA2NM_000059.3(BRCA2): c.729_732delTGAT (p.Asn243Lysfs)deletionPathogenicrs80359645GRCh37Chr 13, 32905103: 32905106
1052BRCA2NM_000059.3(BRCA2): c.733A> T (p.Arg245Ter)single nucleotide variantPathogenicrs80358959GRCh37Chr 13, 32905107: 32905107
1053BRCA2NM_000059.3(BRCA2): c.7360delA (p.Ile2454Phefs)deletionPathogenicrs80359646GRCh37Chr 13, 32929350: 32929350
1054BRCA2NM_000059.3(BRCA2): c.7443delT (p.Thr2482Glnfs)deletionPathogenicrs80359652GRCh37Chr 13, 32930572: 32930572
1055BRCA2NM_000059.3(BRCA2): c.7474_7475delGA (p.Asp2492Tyrfs)deletionPathogenicrs80359653GRCh37Chr 13, 32930603: 32930604
1056BRCA2NM_000059.3(BRCA2): c.748delG (p.Val250Terfs)deletionPathogenicrs80359654GRCh37Chr 13, 32905122: 32905122
1057BRCA2NM_000059.3(BRCA2): c.7543delA (p.Thr2515Hisfs)deletionPathogenicrs80359658GRCh37Chr 13, 32930672: 32930672
1058BRCA2NM_000059.3(BRCA2): c.7558C> T (p.Arg2520Ter)single nucleotide variantPathogenicrs80358981GRCh37Chr 13, 32930687: 32930687
1059BRCA2NM_000059.3(BRCA2): c.755delA (p.Asp252Alafs)deletionPathogenicrs80359661GRCh37Chr 13, 32905129: 32905129
1060BRCA2NM_000059.3(BRCA2): c.756_759delCAGT (p.Asp252Glufs)deletionPathogenicrs80359663GRCh37Chr 13, 32905130: 32905133
1061BRCA2NM_000059.3(BRCA2): c.7593delT (p.Ser2533Leufs)deletionPathogenicrs80359665GRCh37Chr 13, 32930722: 32930722
1062BRCA2NM_000059.3(BRCA2): c.7617+1G> Asingle nucleotide variantPathogenicrs397507922GRCh37Chr 13, 32930747: 32930747
1063BRCA2NM_000059.3(BRCA2): c.7617+2T> Gsingle nucleotide variantPathogenicrs81002843GRCh37Chr 13, 32930748: 32930748
1064BRCA2NM_000059.3(BRCA2): c.7647C> A (p.Cys2549Ter)single nucleotide variantPathogenicrs80358993GRCh37Chr 13, 32931908: 32931908
1065BRCA2NM_000059.3(BRCA2): c.7655_7658delTTAA (p.Ile2552Thrfs)deletionPathogenicrs80359669GRCh37Chr 13, 32931916: 32931919
1066BRCA2NM_000059.3(BRCA2): c.7679_7680delTT (p.Phe2560Serfs)deletionPathogenicrs80359673GRCh37Chr 13, 32931940: 32931941
1067BRCA2NM_000059.3(BRCA2): c.7680dupT (p.Gln2561Serfs)duplicationPathogenicrs397507932GRCh37Chr 13, 32931941: 32931942
1068BRCA2NM_000059.3(BRCA2): c.7681C> T (p.Gln2561Ter)single nucleotide variantPathogenicrs80358994GRCh37Chr 13, 32931942: 32931942
1069BRCA2NM_000059.3(BRCA2): c.7689delC (p.His2563Glnfs)deletionPathogenicrs80359674GRCh37Chr 13, 32931950: 32931950
1070BRCA2NM_000059.3(BRCA2): c.7721G> A (p.Trp2574Ter)single nucleotide variantPathogenicrs80358997GRCh37Chr 13, 32931982: 32931982
1071BRCA2NM_000059.3(BRCA2): c.7738C> T (p.Gln2580Ter)single nucleotide variantPathogenicrs80358999GRCh37Chr 13, 32931999: 32931999
1072BRCA2NM_000059.3(BRCA2): c.7761delC (p.Ile2588Tyrfs)deletionPathogenicrs80359678GRCh37Chr 13, 32932022: 32932022
1073BRCA2NM_000059.3(BRCA2): c.7762delA (p.Ile2588Tyrfs)deletionPathogenicrs80359679GRCh37Chr 13, 32932023: 32932023
1074BRCA2NM_000059.3(BRCA2): c.7805+1G> Asingle nucleotide variantPathogenicrs81002809GRCh37Chr 13, 32932067: 32932067
1075BRCA2NM_000059.3(BRCA2): c.7806-1G> Tsingle nucleotide variantPathogenicrs81002860GRCh37Chr 13, 32936659: 32936659
1076BRCA2NM_000059.3(BRCA2): c.7806_7807insAG (p.Ala2603Argfs)insertionPathogenicrs80359683GRCh37Chr 13, 32936660: 32936661
1077BRCA2NM_000059.3(BRCA2): c.7847delC (p.Ser2616Leufs)deletionPathogenicrs80359685GRCh37Chr 13, 32936701: 32936701
1078BRCA2NM_000059.3(BRCA2): c.7863T> A (p.Tyr2621Ter)single nucleotide variantPathogenicrs276174896GRCh37Chr 13, 32936717: 32936717
1079BRCA2NM_000059.3(BRCA2): c.7886G> A (p.Trp2629Ter)single nucleotide variantPathogenicrs80359015GRCh37Chr 13, 32936740: 32936740
1080BRCA2NM_000059.3(BRCA2): c.7908T> A (p.Cys2636Ter)single nucleotide variantPathogenicrs80359016GRCh37Chr 13, 32936762: 32936762
1081BRCA2NM_000059.3(BRCA2): c.793+1G> Asingle nucleotide variantPathogenicrs81002846GRCh37Chr 13, 32905168: 32905168
1082BRCA2NM_000059.3(BRCA2): c.793+1G> Tsingle nucleotide variantPathogenicrs81002846GRCh37Chr 13, 32905168: 32905168
1083BRCA2NM_000059.3(BRCA2): c.7954delG (p.Val2652Cysfs)deletionPathogenicrs80359689GRCh37Chr 13, 32936808: 32936808
1084BRCA2NM_000059.3(BRCA2): c.7978T> G (p.Tyr2660Asp)single nucleotide variantLikely pathogenicrs80359029GRCh37Chr 13, 32937317: 32937317
1085BRCA2NM_000059.3(BRCA2): c.7988A> T (p.Glu2663Val)single nucleotide variantPathogenicrs80359031GRCh37Chr 13, 32937327: 32937327
1086BRCA2NM_000059.3(BRCA2): c.7996A> T (p.Arg2666Ter)single nucleotide variantPathogenicrs80359032GRCh37Chr 13, 32937335: 32937335
1087BRCA2NM_000059.3(BRCA2): c.8002A> T (p.Arg2668Ter)single nucleotide variantPathogenicrs276174900GRCh37Chr 13, 32937341: 32937341
1088BRCA2NM_000059.3(BRCA2): c.8029delG (p.Glu2677Lysfs)deletionPathogenicrs80359691GRCh37Chr 13, 32937368: 32937368
1089BRCA2NM_000059.3(BRCA2): c.8042_8043delCA (p.Thr2681Serfs)deletionPathogenicrs276174901GRCh37Chr 13, 32937381: 32937382
1090BRCA2NM_000059.3(BRCA2): c.8058delT (p.Val2687Phefs)deletionPathogenicrs80359692GRCh37Chr 13, 32937397: 32937397
1091BRCA2NM_000059.3(BRCA2): c.8067T> A (p.Cys2689Ter)single nucleotide variantPathogenicrs80359046GRCh37Chr 13, 32937406: 32937406
1092BRCA2NM_000059.3(BRCA2): c.8067delT (p.Cys2689Trpfs)deletionPathogenicrs80359693GRCh37Chr 13, 32937406: 32937406
1093BRCA2NM_000059.3(BRCA2): c.8068_8069delGT (p.Val2690Phefs)deletionPathogenicrs80359694GRCh37Chr 13, 32937407: 32937408
1094BRCA2NM_000059.3(BRCA2): c.8084C> G (p.Ser2695Ter)single nucleotide variantPathogenicrs80359048GRCh37Chr 13, 32937423: 32937423
1095BRCA2NM_000059.3(BRCA2): c.8087T> A (p.Leu2696Ter)single nucleotide variantPathogenicrs80359050GRCh37Chr 13, 32937426: 32937426
1096BRCA2NM_000059.3(BRCA2): c.8087delT (p.Leu2696Terfs)deletionPathogenicrs80359695GRCh37Chr 13, 32937426: 32937426
1097BRCA2NM_000059.3(BRCA2): c.809C> G (p.Ser270Ter)single nucleotide variantPathogenicrs276174902GRCh37Chr 13, 32906424: 32906424
1098BRCA2NM_000059.3(BRCA2): c.8130delT (p.Ser2710Argfs)deletionPathogenicrs80359696GRCh37Chr 13, 32937469: 32937469
1099BRCA2NM_000059.3(BRCA2): c.8140C> T (p.Gln2714Ter)single nucleotide variantPathogenicrs80359058GRCh37Chr 13, 32937479: 32937479
1100BRCA2NM_000059.3(BRCA2): c.818C> G (p.Ser273Ter)single nucleotide variantPathogenicrs80359068GRCh37Chr 13, 32906433: 32906433
1101BRCA2NM_000059.3(BRCA2): c.8234_8237delTGAC (p.Leu2745Glnfs)deletionPathogenicrs80359699GRCh37Chr 13, 32937573: 32937576
1102BRCA2NM_000059.3(BRCA2): c.8234dupT (p.Thr2746Aspfs)duplicationPathogenicrs276174903GRCh37Chr 13, 32937573: 32937574
1103BRCA2NM_000059.3(BRCA2): c.8237_8238delCA (p.Thr2746Serfs)deletionPathogenicrs80359700GRCh37Chr 13, 32937576: 32937577
1104BRCA2NM_000059.3(BRCA2): c.8247_8248delGA (p.Lys2750Aspfs)deletionPathogenicrs80359702GRCh37Chr 13, 32937586: 32937587
1105BRCA2NM_000059.3(BRCA2): c.8331+1G> Tsingle nucleotide variantPathogenicrs81002837GRCh37Chr 13, 32937671: 32937671
1106BRCA2NM_000059.3(BRCA2): c.8340_8343delTAAC (p.Asn2781Valfs)deletionPathogenicrs80359707GRCh37Chr 13, 32944547: 32944550
1107BRCA2NM_000059.3(BRCA2): c.8343delC (p.Asn2781Lysfs)deletionPathogenicrs80359708GRCh37Chr 13, 32944550: 32944550
1108BRCA2NM_000059.3(BRCA2): c.8394_8396delTAGinsAA (p.Arg2799Asnfs)indelPathogenicrs276174907GRCh37Chr 13, 32944601: 32944603
1109BRCA2NM_000059.3(BRCA2): c.8395delA (p.Arg2799Aspfs)deletionPathogenicrs80359709GRCh37Chr 13, 32944602: 32944602
1110BRCA2NM_000059.3(BRCA2): c.8436dupA (p.Gly2813Argfs)duplicationPathogenicrs80359710GRCh37Chr 13, 32944643: 32944644
1111BRCA2NM_000059.3(BRCA2): c.8474delC (p.Ala2825Aspfs)deletionPathogenicrs80359711GRCh37Chr 13, 32944681: 32944681
1112BRCA2NM_000059.3(BRCA2): c.8485C> T (p.Gln2829Ter)single nucleotide variantPathogenicrs80359099GRCh37Chr 13, 32944692: 32944692
1113BRCA2NM_000059.3(BRCA2): c.8489G> A (p.Trp2830Ter)single nucleotide variantPathogenicrs80359101GRCh37Chr 13, 32945094: 32945094
1114BRCA2NM_000059.3(BRCA2): c.8504C> A (p.Ser2835Ter)single nucleotide variantPathogenicrs80359102GRCh37Chr 13, 32945109: 32945109
1115BRCA2NM_000059.3(BRCA2): c.8505delA (p.Ser2836Leufs)deletionPathogenicrs80359713GRCh37Chr 13, 32945110: 32945110
1116BRCA2NM_000059.3(BRCA2): c.8535_8538delAGAG (p.Glu2846Lysfs)deletionPathogenicrs80359715GRCh37Chr 13, 32945140: 32945143
1117BRCA2NM_000059.3(BRCA2): c.8560delT (p.Tyr2854Metfs)deletionPathogenicrs80359717GRCh37Chr 13, 32945165: 32945165
1118BRCA2NM_000059.3(BRCA2): c.8572C> T (p.Gln2858Ter)single nucleotide variantPathogenicrs80359112GRCh37Chr 13, 32945177: 32945177
1119BRCA2NM_000059.3(BRCA2): c.8575C> T (p.Gln2859Ter)single nucleotide variantPathogenicrs80359115GRCh37Chr 13, 32945180: 32945180
1120BRCA2NM_000059.3(BRCA2): c.8594T> A (p.Leu2865Ter)single nucleotide variantPathogenicrs80359118GRCh37Chr 13, 32945199: 32945199
1121BRCA2NM_000059.3(BRCA2): c.8594dupT (p.Leu2865Phefs)duplicationPathogenicrs80359721GRCh37Chr 13, 32945199: 32945200
1122BRCA2NM_000059.3(BRCA2): c.8629G> T (p.Glu2877Ter)single nucleotide variantPathogenicrs80359121GRCh37Chr 13, 32945234: 32945234
1123BRCA2NM_000059.3(BRCA2): c.8633_8754del122 (p.Glu2878Glyfs)deletionPathogenicGRCh37Chr 13, 32950807: 32950928
1124BRCA2NM_000059.3(BRCA2): c.8636dupA (p.Asn2879Lysfs)duplicationPathogenicrs80359723GRCh37Chr 13, 32950810: 32950811
1125BRCA2NM_000059.3(BRCA2): c.8647delC (p.Pro2883Hisfs)deletionPathogenicrs276174910GRCh37Chr 13, 32950821: 32950821
1126BRCA2NM_000059.3(BRCA2): c.8673_8674delAA (p.Arg2892Thrfs)deletionPathogenicrs80359724GRCh37Chr 13, 32950847: 32950848
1127BRCA2NM_000059.3(BRCA2): c.8676delA (p.Arg2892Serfs)deletionPathogenicrs80359725GRCh37Chr 13, 32950850: 32950850
1128BRCA2NM_000059.3(BRCA2): c.86_87delTT (p.Leu29Glnfs)deletionPathogenicrs80359722GRCh37Chr 13, 32893232: 32893233
1129BRCA2NM_000059.3(BRCA2): c.8713_8716delTATG (p.Tyr2905Lysfs)deletionPathogenicrs80359726GRCh37Chr 13, 32950887: 32950890
1130BRCA2NM_000059.3(BRCA2): c.8754+4A> Gsingle nucleotide variantPathogenicrs81002893GRCh37Chr 13, 32950932: 32950932
1131BRCA2NM_000059.3(BRCA2): c.8756delG (p.Gly2919Valfs)deletionPathogenicrs80359728GRCh37Chr 13, 32953455: 32953455
1132BRCA2NM_000059.3(BRCA2): c.8770G> T (p.Glu2924Ter)single nucleotide variantPathogenicrs80359133GRCh37Chr 13, 32953469: 32953469
1133BRCA2NM_000059.3(BRCA2): c.8773C> T (p.Gln2925Ter)single nucleotide variantPathogenicrs80359134GRCh37Chr 13, 32953472: 32953472
1134BRCA2NM_000059.3(BRCA2): c.8789delA (p.Asn2930Ilefs)deletionPathogenicrs80359729GRCh37Chr 13, 32953488: 32953488
1135BRCA2NM_000059.3(BRCA2): c.880G> T (p.Glu294Ter)single nucleotide variantLikely pathogenic, Pathogenicrs397508009GRCh37Chr 13, 32906495: 32906495
1136BRCA2NM_000059.3(BRCA2): c.8848delAinsCT (p.Lys2950Leufs)indelPathogenicrs276174912GRCh37Chr 13, 32953547: 32953547
1137BRCA2NM_000059.3(BRCA2): c.8878C> T (p.Gln2960Ter)single nucleotide variantPathogenicrs80359140GRCh37Chr 13, 32953577: 32953577
1138BRCA2NM_000059.3(BRCA2): c.8912delA (p.Lys2971Serfs)deletionPathogenicrs80359731GRCh37Chr 13, 32953611: 32953611
1139BRCA2NM_000059.3(BRCA2): c.8933C> A (p.Ser2978Ter)single nucleotide variantPathogenicrs80359144GRCh37Chr 13, 32953632: 32953632
1140BRCA2NM_000059.3(BRCA2): c.8954-3C> Gsingle nucleotide variantPathogenicrs81002844GRCh37Chr 13, 32953884: 32953884
1141BRCA2NM_000059.3(BRCA2): c.8961_8964delGAGT (p.Ser2988Phefs)deletionPathogenicrs80359734GRCh37Chr 13, 32953894: 32953897
1142BRCA2NM_000059.3(BRCA2): c.8970G> A (p.Trp2990Ter)single nucleotide variantPathogenicrs80359149GRCh37Chr 13, 32953903: 32953903
1143BRCA2NM_000059.3(BRCA2): c.897_898insC (p.Val300Argfs)insertionPathogenicrs80359735GRCh37Chr 13, 32906512: 32906513
1144BRCA2NM_000059.3(BRCA2): c.8980_8983delTCAG (p.Ser2994Ilefs)deletionPathogenicrs80359737GRCh37Chr 13, 32953913: 32953916
1145BRCA2NM_000059.3(BRCA2): c.8999T> A (p.Leu3000Ter)single nucleotide variantPathogenicrs80359151GRCh37Chr 13, 32953932: 32953932
1146BRCA2NM_000059.3(BRCA2): c.9016_9017delTA (p.Tyr3006Glnfs)deletionPathogenicrs80359740GRCh37Chr 13, 32953949: 32953950
1147BRCA2NM_000059.3(BRCA2): c.901dupG (p.Asp301Glyfs)duplicationPathogenicrs80359738GRCh37Chr 13, 32906516: 32906517
1148BRCA2NM_000059.3(BRCA2): c.9027delT (p.His3010Ilefs)deletionPathogenicrs80359742GRCh37Chr 13, 32953960: 32953960
1149BRCA2NM_000059.3(BRCA2): c.9041C> A (p.Ser3014Ter)single nucleotide variantPathogenicrs80359156GRCh37Chr 13, 32953974: 32953974
1150BRCA2NM_000059.3(BRCA2): c.9054_9055delTA (p.Ser3018Argfs)deletionPathogenicrs80359743GRCh37Chr 13, 32953987: 32953988
1151BRCA2NM_000059.3(BRCA2): c.9057delA (p.Lys3019Asnfs)deletionPathogenicrs80359744GRCh37Chr 13, 32953990: 32953990
1152BRCA2NM_000059.3(BRCA2): c.9069_9076delTAACATAC (p.Asn3024Valfs)deletionPathogenicrs80359746GRCh37Chr 13, 32954002: 32954009
1153BRCA2NM_000059.3(BRCA2): c.9098_9099insA (p.Gln3034Serfs)insertionPathogenicrs80359747GRCh37Chr 13, 32954031: 32954032
1154BRCA2NM_000059.3(BRCA2): c.9099_9100delTC (p.Gln3034Valfs)deletionPathogenicrs80359748GRCh37Chr 13, 32954032: 32954033
1155BRCA2NM_000059.3(BRCA2): c.9100C> T (p.Gln3034Ter)single nucleotide variantPathogenicrs80359163GRCh37Chr 13, 32954033: 32954033
1156BRCA2NM_000059.3(BRCA2): c.9109C> T (p.Gln3037Ter)single nucleotide variantPathogenicrs397508037GRCh37Chr 13, 32954042: 32954042
1157BRCA2NM_000059.3(BRCA2): c.9117+1G> Asingle nucleotide variantPathogenicrs81002802GRCh37Chr 13, 32954051: 32954051
1158BRCA2NM_000059.3(BRCA2): c.9117+1G> Tsingle nucleotide variantPathogenicrs81002802GRCh37Chr 13, 32954051: 32954051
1159BRCA2NM_000059.3(BRCA2): c.9118-2A> Gsingle nucleotide variantPathogenicrs81002862GRCh37Chr 13, 32954142: 32954142
1160BRCA2NM_000059.3(BRCA2): c.9148C> T (p.Gln3050Ter)single nucleotide variantPathogenicrs80359170GRCh37Chr 13, 32954174: 32954174
1161BRCA2NM_000059.3(BRCA2): c.9154C> T (p.Arg3052Trp)single nucleotide variantPathogenicrs45580035GRCh37Chr 13, 32954180: 32954180
1162BRCA2NM_000059.3(BRCA2): c.9157delG (p.Glu3053Serfs)deletionPathogenicrs80359750GRCh37Chr 13, 32954183: 32954183
1163BRCA2NM_000059.3(BRCA2): c.9177delA (p.Lys3059Asnfs)deletionPathogenicrs80359751GRCh37Chr 13, 32954203: 32954203
1164BRCA2NM_000059.3(BRCA2): c.9182T> A (p.Leu3061Ter)single nucleotide variantPathogenicrs80359175GRCh37Chr 13, 32954208: 32954208
1165BRCA2NM_000059.3(BRCA2): c.9207T> A (p.Cys3069Ter)single nucleotide variantPathogenicrs80359183GRCh37Chr 13, 32954233: 32954233
1166BRCA2NM_000059.3(BRCA2): c.9256+1G> Asingle nucleotide variantPathogenicrs81002883GRCh37Chr 13, 32954283: 32954283
1167BRCA2NM_000059.3(BRCA2): c.9256G> T (p.Gly3086Ter)single nucleotide variantPathogenicrs80359192GRCh37Chr 13, 32954282: 32954282
1168BRCA2NM_000059.3(BRCA2): c.9269dupT (p.Val3091Argfs)duplicationPathogenicrs80359753GRCh37Chr 13, 32968838: 32968839
1169BRCA2NM_000059.3(BRCA2): c.9275_9278delATTT (p.Tyr3092Cysfs)deletionPathogenicrs80359754GRCh37Chr 13, 32968844: 32968847
1170BRCA2NM_000059.3(BRCA2): c.9276T> G (p.Tyr3092Ter)single nucleotide variantPathogenicrs80359197GRCh37Chr 13, 32968845: 32968845
1171BRCA2NM_000059.3(BRCA2): c.9285C> G (p.Asp3095Glu)single nucleotide variantPathogenicrs80359198GRCh37Chr 13, 32968854: 32968854
1172BRCA2NM_000059.3(BRCA2): c.9286G> T (p.Glu3096Ter)single nucleotide variantPathogenicrs80359199GRCh37Chr 13, 32968855: 32968855
1173BRCA2NM_000059.3(BRCA2): c.9310_9311delAA (p.Lys3104Valfs)deletionPathogenicrs80359756GRCh37Chr 13, 32968879: 32968880
1174BRCA2NM_000059.3(BRCA2): c.9317G> A (p.Trp3106Ter)single nucleotide variantPathogenicrs80359205GRCh37Chr 13, 32968886: 32968886
1175BRCA2NM_000059.3(BRCA2): c.9356T> G (p.Leu3119Ter)single nucleotide variantPathogenicrs80359207GRCh37Chr 13, 32968925: 32968925
1176BRCA2NM_000059.3(BRCA2): c.9360delT (p.Ile3120Metfs)deletionPathogenicrs80359757GRCh37Chr 13, 32968929: 32968929
1177BRCA2NM_000059.3(BRCA2): c.9376C> T (p.Gln3126Ter)single nucleotide variantPathogenicrs80359210GRCh37Chr 13, 32968945: 32968945
1178BRCA2NM_000059.3(BRCA2): c.9403delC (p.Leu3135Phefs)deletionPathogenicrs80359760GRCh37Chr 13, 32968972: 32968972
1179BRCA2NM_000059.3(BRCA2): c.9408delT (p.Thr3137Leufs)deletionPathogenicrs80359761GRCh37Chr 13, 32968977: 32968977
1180BRCA2NM_000059.3(BRCA2): c.9426_9427delTT (p.Ser3144Cysfs)deletionPathogenicrs80359762GRCh37Chr 13, 32968995: 32968996
1181BRCA2NM_000059.3(BRCA2): c.9455_9456delAG (p.Glu3152Glyfs)deletionPathogenicrs80359764GRCh37Chr 13, 32969024: 32969025
1182BRCA2NM_000059.3(BRCA2): c.9466delC (p.Gln3156Lysfs)deletionPathogenicrs80359766GRCh37Chr 13, 32969035: 32969035
1183BRCA2NM_000059.3(BRCA2): c.9481A> T (p.Lys3161Ter)single nucleotide variantPathogenicrs80359222GRCh37Chr 13, 32969050: 32969050
1184BRCA2NM_000059.3(BRCA2): c.9501G> A (p.Glu3167=)single nucleotide variantPathogenicrs80359808GRCh37Chr 13, 32969070: 32969070
1185BRCA2NM_000059.3(BRCA2): c.9507delT (p.Ile3169Metfs)deletionPathogenicrs80359767GRCh37Chr 13, 32971040: 32971040
1186BRCA2NM_000059.3(BRCA2): c.9513_9516delACTT (p.Leu3172Alafs)deletionPathogenicrs80359769GRCh37Chr 13, 32971046: 32971049
1187BRCA2NM_000059.3(BRCA2): c.9541_9554delATGCATATACTGCA (p.Met3181Cysfs)deletionPathogenicrs397508062GRCh37Chr 13, 32971074: 32971087
1188BRCA2NM_000059.3(BRCA2): c.956dupA (p.Asn319Lysfs)duplicationPathogenicrs80359770GRCh37Chr 13, 32906571: 32906572
1189BRCA2NM_000059.3(BRCA2): c.961C> T (p.Gln321Ter)single nucleotide variantPathogenicrs80359234GRCh37Chr 13, 32906576: 32906576
1190BRCA2NM_000059.3(BRCA2): c.9649-2A> Gsingle nucleotide variantPathogenicrs81002895GRCh37Chr 13, 32972297: 32972297
1191BRCA2NM_000059.3(BRCA2): c.9676delT (p.Tyr3226Ilefs)deletionPathogenicrs80359774GRCh37Chr 13, 32972326: 32972326
1192BRCA2NM_000059.3(BRCA2): c.9868delG (p.Val3290Phefs)deletionPathogenicrs80359776GRCh37Chr 13, 32972518: 32972518
1193BRCA2NM_000059.3(BRCA2): c.9883C> T (p.Gln3295Ter)single nucleotide variantPathogenicrs80359247GRCh37Chr 13, 32972533: 32972533
1194BRCA2NM_000059.3(BRCA2): c.9925G> T (p.Glu3309Ter)single nucleotide variantPathogenicrs80359251GRCh37Chr 13, 32972575: 32972575
1195BRCA2NM_000059.3(BRCA2): c.993_994delAA (p.Lys331Asnfs)deletionPathogenicrs80359777GRCh37Chr 13, 32906608: 32906609
1196BRCA2NM_000059.3(BRCA2): c.994delA (p.Ile332Phefs)deletionPathogenicrs80359778GRCh37Chr 13, 32906609: 32906609
1197BRCA1NM_007294.3(BRCA1): c.1008dupA (p.Glu337Argfs)duplicationPathogenicrs67284603GRCh37Chr 17, 41246539: 41246540
1198BRCA1NM_007294.3(BRCA1): c.1016dupA (p.Val340Glyfs)duplicationPathogenicrs80357569GRCh37Chr 17, 41246531: 41246532
1199BRCA1NM_007294.3(BRCA1): c.101delC (p.Pro34Leufs)deletionPathogenicrs80357750GRCh37Chr 17, 41267776: 41267776
1200BRCA1NM_007294.3(BRCA1): c.1045G> T (p.Glu349Ter)single nucleotide variantPathogenicrs80357338GRCh37Chr 17, 41246503: 41246503
1201BRCA1NM_007294.3(BRCA1): c.1054G> T (p.Glu352Ter)single nucleotide variantPathogenicrs80357472GRCh37Chr 17, 41246494: 41246494
1202BRCA1NM_007294.3(BRCA1): c.1058G> A (p.Trp353Ter)single nucleotide variantPathogenicrs80356908GRCh37Chr 17, 41246490: 41246490
1203BRCA1NM_007294.3(BRCA1): c.1059G> A (p.Trp353Ter)single nucleotide variantPathogenicrs80356935GRCh37Chr 17, 41246489: 41246489
1204BRCA1NM_007294.3(BRCA1): c.1066C> T (p.Gln356Ter)single nucleotide variantPathogenicrs80357215GRCh37Chr 17, 41246482: 41246482
1205BRCA1NM_007294.3(BRCA1): c.1067delA (p.Gln356Argfs)deletionPathogenicrs80357796GRCh37Chr 17, 41246481: 41246481
1206BRCA1NM_007294.3(BRCA1): c.1072delC (p.Leu358Cysfs)deletionPathogenicrs80357836GRCh37Chr 17, 41246476: 41246476
1207BRCA1NM_007294.3(BRCA1): c.1082_1092delCAGAGAATCCT (p.Ser361Terfs)deletionPathogenicrs80359880GRCh37Chr 17, 41246456: 41246466
1208BRCA1NM_007294.3(BRCA1): c.1086_1087delGA (p.Asn363Serfs)deletionPathogenicrs80357897GRCh37Chr 17, 41246461: 41246462
1209BRCA1NM_007294.3(BRCA1): c.1088delA (p.Asn363Ilefs)deletionPathogenicrs80357954GRCh37Chr 17, 41246460: 41246460
1210BRCA1NM_007294.3(BRCA1): c.1102G> T (p.Glu368Ter)single nucleotide variantPathogenicrs80357139GRCh37Chr 17, 41246446: 41246446
1211BRCA1NM_007294.3(BRCA1): c.1116G> A (p.Trp372Ter)single nucleotide variantPathogenicrs80357468GRCh37Chr 17, 41246432: 41246432
1212BRCA1NM_007294.3(BRCA1): c.1121_1123delCACinsT (p.Thr374Ilefs)indelPathogenicrs273897652GRCh37Chr 17, 41246425: 41246427
1213BRCA1NM_007294.3(BRCA1): c.1127delA (p.Asn376Ilefs)deletionPathogenicrs80357821GRCh37Chr 17, 41246421: 41246421
1214BRCA1NM_007294.3(BRCA1): c.112_113delAA (p.Lys38Valfs)deletionPathogenicrs80357949GRCh37Chr 17, 41267764: 41267765
1215BRCA1NM_007294.3(BRCA1): c.1141A> T (p.Lys381Ter)single nucleotide variantPathogenicrs80357385GRCh37Chr 17, 41246407: 41246407
1216BRCA1NM_007294.3(BRCA1): c.115T> C (p.Cys39Arg)single nucleotide variantPathogenicrs80357164GRCh37Chr 17, 41267762: 41267762
1217BRCA1NM_007294.3(BRCA1): c.1165delA (p.Ser389Valfs)deletionPathogenicrs80357985GRCh37Chr 17, 41246383: 41246383
1218BRCA1NM_007294.3(BRCA1): c.1166delG (p.Ser389Metfs)deletionPathogenicrs273897653GRCh37Chr 17, 41246382: 41246382
1219BRCA1NM_007294.3(BRCA1): c.117_118delTG (p.Cys39Terfs)deletionPathogenicrs80357972GRCh37Chr 17, 41267759: 41267760
1220BRCA1NM_007294.3(BRCA1): c.1193C> G (p.Ser398Ter)single nucleotide variantPathogenicrs80357068GRCh37Chr 17, 41246355: 41246355
1221BRCA1NM_007294.3(BRCA1): c.1204delG (p.Glu402Serfs)deletionPathogenicrs80357859GRCh37Chr 17, 41246344: 41246344
1222BRCA1NM_007294.3(BRCA1): c.1214C> A (p.Ser405Ter)single nucleotide variantPathogenicrs80357481GRCh37Chr 17, 41246334: 41246334
1223BRCA1NM_007294.3(BRCA1): c.1240_1246delGACGTTC (p.Asp414Terfs)deletionPathogenicrs80357964GRCh37Chr 17, 41246302: 41246308
1224BRCA1NM_007294.3(BRCA1): c.1241dupA (p.Asp414Glufs)duplicationPathogenicrs80357514GRCh37Chr 17, 41246306: 41246307
1225BRCA1NM_007294.3(BRCA1): c.124delA (p.Ile42Tyrfs)deletionPathogenicrs80357943GRCh37Chr 17, 41267753: 41267753
1226BRCA1NM_007294.3(BRCA1): c.1252G> T (p.Glu418Ter)single nucleotide variantPathogenicrs80357083GRCh37Chr 17, 41246296: 41246296
1227BRCA1NM_007294.3(BRCA1): c.1255delG (p.Val419Terfs)deletionPathogenicrs80357535GRCh37Chr 17, 41246293: 41246293
1228BRCA1NM_007294.3(BRCA1): c.1265dupA (p.Tyr422Terfs)duplicationPathogenicrs80357809GRCh37Chr 17, 41246282: 41246283
1229BRCA1NM_007294.3(BRCA1): c.1266T> G (p.Tyr422Ter)single nucleotide variantPathogenicrs80357417GRCh37Chr 17, 41246282: 41246282
1230BRCA1NM_007294.3(BRCA1): c.1276delT (p.Ser426Glnfs)deletionPathogenicrs80357766GRCh37Chr 17, 41246272: 41246272
1231BRCA1NM_007294.3(BRCA1): c.1287dupA (p.Asp430Argfs)duplicationPathogenicrs80357576GRCh37Chr 17, 41246260: 41246261
1232BRCA1NM_007294.3(BRCA1): c.1292T> G (p.Leu431Ter)single nucleotide variantPathogenicrs80357346GRCh37Chr 17, 41246256: 41246256
1233BRCA1NM_007294.3(BRCA1): c.1292dupT (p.Leu431Phefs)duplicationPathogenicrs80357528GRCh37Chr 17, 41246255: 41246256
1234BRCA1NM_007294.3(BRCA1): c.1297delG (p.Ala433Profs)deletionPathogenicrs80357794GRCh37Chr 17, 41246251: 41246251
1235BRCA1NM_007294.3(BRCA1): c.130delT (p.Cys44Alafs)deletionPathogenicrs80357951GRCh37Chr 17, 41267747: 41267747
1236BRCA1NM_007294.3(BRCA1): c.1319delT (p.Leu440Terfs)deletionPathogenicrs80357683GRCh37Chr 17, 41246229: 41246229
1237BRCA1NM_007294.3(BRCA1): c.131G> A (p.Cys44Tyr)single nucleotide variantPathogenicrs80357446GRCh37Chr 17, 41267746: 41267746
1238BRCA1NM_007294.3(BRCA1): c.131G> T (p.Cys44Phe)single nucleotide variantPathogenicrs80357446GRCh37Chr 17, 41267746: 41267746
1239BRCA1NM_007294.3(BRCA1): c.1323_1324delAT (p.Ile441Metfs)deletionPathogenicrs80357570GRCh37Chr 17, 41246224: 41246225
1240BRCA1NM_007294.3(BRCA1): c.1333G> T (p.Glu445Ter)single nucleotide variantPathogenicrs80356915GRCh37Chr 17, 41246215: 41246215
1241BRCA1NM_007294.3(BRCA1): c.1335_1336delAA (p.Arg446Serfs)deletionPathogenicrs80357978GRCh37Chr 17, 41246212: 41246213
1242BRCA1NM_007294.3(BRCA1): c.134+1G> Tsingle nucleotide variantPathogenicrs80358043GRCh37Chr 17, 41267742: 41267742
1243BRCA1NM_007294.3(BRCA1): c.134+2T> Gsingle nucleotide variantPathogenicrs80358131GRCh37Chr 17, 41267741: 41267741
1244BRCA1NM_007294.3(BRCA1): c.135-1G> Csingle nucleotide variantPathogenicrs80358158GRCh37Chr 17, 41258551: 41258551
1245BRCA1NM_007294.3(BRCA1): c.1352C> A (p.Ser451Ter)single nucleotide variantPathogenicrs80356891GRCh37Chr 17, 41246196: 41246196
1246BRCA1NM_007294.3(BRCA1): c.1352C> G (p.Ser451Ter)single nucleotide variantPathogenicrs80356891GRCh37Chr 17, 41246196: 41246196
1247BRCA1NM_007294.3(BRCA1): c.1380dupA (p.Phe461Ilefs)duplicationPathogenicrs80357714GRCh37Chr 17, 41246167: 41246168
1248BRCA1NM_007294.3(BRCA1): c.1383delT (p.Phe461Leufs)deletionPathogenicrs80357879GRCh37Chr 17, 41246165: 41246165
1249BRCA1NM_007294.3(BRCA1): c.1386delG (p.Thr464Profs)deletionPathogenicrs80357722GRCh37Chr 17, 41246162: 41246162
1250BRCA1NM_007294.3(BRCA1): c.1390delA (p.Thr464Profs)deletionPathogenicrs80357770GRCh37Chr 17, 41246158: 41246158
1251BRCA1NM_007294.3(BRCA1): c.1399A> T (p.Lys467Ter)single nucleotide variantPathogenicrs80357279GRCh37Chr 17, 41246149: 41246149
1252BRCA1NM_007294.3(BRCA1): c.1421T> G (p.Leu474Ter)single nucleotide variantPathogenicrs80357490GRCh37Chr 17, 41246127: 41246127
1253BRCA1NM_007294.3(BRCA1): c.1439dupA (p.Asn480Lysfs)duplicationPathogenicrs80357505GRCh37Chr 17, 41246108: 41246109
1254BRCA1NM_007294.3(BRCA1): c.1444delA (p.Ile482Leufs)deletionPathogenicrs80357648GRCh37Chr 17, 41246104: 41246104
1255BRCA1NM_007294.3(BRCA1): c.144delG (p.Met48Ilefs)deletionPathogenicrs80357682GRCh37Chr 17, 41258541: 41258541
1256BRCA1NM_007294.3(BRCA1): c.1450G> T (p.Gly484Ter)single nucleotide variantPathogenicrs80357304GRCh37Chr 17, 41246098: 41246098
1257BRCA1NM_007294.3(BRCA1): c.1471C> T (p.Gln491Ter)single nucleotide variantPathogenicrs62625303GRCh37Chr 17, 41246077: 41246077
1258BRCA1NM_007294.3(BRCA1): c.1492delC (p.Leu498Serfs)deletionPathogenicrs80357527GRCh37Chr 17, 41246056: 41246056
1259BRCA1NM_007294.3(BRCA1): c.1497_1500delAAAT (p.Lys501Terfs)deletionPathogenicrs80357632GRCh37Chr 17, 41246048: 41246051
1260BRCA1NM_007294.3(BRCA1): c.1508delA (p.Lys503Serfs)deletionPathogenicrs80357506GRCh37Chr 17, 41246040: 41246040
1261BRCA1NM_007294.3(BRCA1): c.150delA (p.Lys50Asnfs)deletionPathogenicrs273897662GRCh37Chr 17, 41258535: 41258535
1262BRCA1NM_007294.3(BRCA1): c.1511dupG (p.Lys505Terfs)duplicationPathogenicrs80357817GRCh37Chr 17, 41246036: 41246037
1263BRCA1NM_007294.3(BRCA1): c.1523delC (p.Pro508Leufs)deletionPathogenicrs80357782GRCh37Chr 17, 41246025: 41246025
1264BRCA1NM_007294.3(BRCA1): c.1529C> G (p.Ser510Ter)single nucleotide variantPathogenicrs80357427GRCh37Chr 17, 41246019: 41246019
1265BRCA1NM_007294.3(BRCA1): c.1530delA (p.Gly511Alafs)deletionPathogenicrs80357735GRCh37Chr 17, 41246018: 41246018
1266BRCA1NM_007294.3(BRCA1): c.1551delT (p.Phe517Leufs)deletionPathogenicrs80357630GRCh37Chr 17, 41245997: 41245997
1267BRCA1NM_007294.3(BRCA1): c.1576C> T (p.Gln526Ter)single nucleotide variantPathogenicrs80356984GRCh37Chr 17, 41245972: 41245972
1268BRCA1NM_007294.3(BRCA1): c.1608_1611delTAAC (p.Asn537Lysfs)deletionPathogenicrs80357698GRCh37Chr 17, 41245937: 41245940
1269BRCA1NM_007294.3(BRCA1): c.160C> T (p.Gln54Ter)single nucleotide variantPathogenicrs80356864GRCh37Chr 17, 41258525: 41258525
1270BRCA1NM_007294.3(BRCA1): c.1612C> T (p.Gln538Ter)single nucleotide variantPathogenicrs80356893GRCh37Chr 17, 41245936: 41245936
1271BRCA1NM_007294.3(BRCA1): c.1621C> T (p.Gln541Ter)single nucleotide variantPathogenicrs80356904GRCh37Chr 17, 41245927: 41245927
1272BRCA1NM_007294.3(BRCA1): c.1630C> T (p.Gln544Ter)single nucleotide variantPathogenicrs80356952GRCh37Chr 17, 41245918: 41245918
1273BRCA1NM_007294.3(BRCA1): c.1636_1654del19 (p.Met546Valfs)deletionPathogenicrs80359881GRCh37Chr 17, 41245894: 41245912
1274BRCA1NM_007294.3(BRCA1): c.1649delA (p.Asn550Ilefs)deletionPathogenicrs80357619GRCh37Chr 17, 41245899: 41245899
1275BRCA1NM_007294.3(BRCA1): c.1713_1717delAGAAT (p.Glu572Thrfs)deletionPathogenicrs80357640GRCh37Chr 17, 41245831: 41245835
1276BRCA1NM_007294.3(BRCA1): c.1729_1730delGA (p.Glu577Ilefs)deletionPathogenicrs80357834GRCh37Chr 17, 41245818: 41245819
1277BRCA1NM_007294.3(BRCA1): c.1747A> T (p.Lys583Ter)single nucleotide variantPathogenicrs80356928GRCh37Chr 17, 41245801: 41245801
1278BRCA1NM_007294.3(BRCA1): c.1757delC (p.Pro586Leufs)deletionPathogenicrs80357723GRCh37Chr 17, 41245791: 41245791
1279BRCA1NM_007294.3(BRCA1): c.1772delT (p.Ile591Lysfs)deletionPathogenicrs80357901GRCh37Chr 17, 41245776: 41245776
1280BRCA1NM_007294.3(BRCA1): c.1789G> T (p.Glu597Ter)single nucleotide variantPathogenicrs55650082GRCh37Chr 17, 41245759: 41245759
1281BRCA1NM_007294.3(BRCA1): c.178C> T (p.Gln60Ter)single nucleotide variantPathogenicrs80357471GRCh37Chr 17, 41258507: 41258507
1282BRCA1NM_007294.3(BRCA1): c.1793T> A (p.Leu598Ter)single nucleotide variantPathogenicrs80357118GRCh37Chr 17, 41245755: 41245755
1283BRCA1NM_007294.3(BRCA1): c.1793T> G (p.Leu598Ter)single nucleotide variantPathogenicrs80357118GRCh37Chr 17, 41245755: 41245755
1284BRCA1NM_007294.3(BRCA1): c.179delA (p.Gln60Argfs)deletionPathogenicrs80357591GRCh37Chr 17, 41258506: 41258506
1285BRCA1NM_007294.3(BRCA1): c.1819A> T (p.Lys607Ter)single nucleotide variantPathogenicrs80357220GRCh37Chr 17, 41245729: 41245729
1286BRCA1NM_007294.3(BRCA1): c.1823_1826delAGAA (p.Lys608Ilefs)deletionPathogenicrs80357952GRCh37Chr 17, 41245722: 41245725
1287BRCA1NM_007294.3(BRCA1): c.1825delA (p.Asn609Ilefs)deletionPathogenicrs80357736GRCh37Chr 17, 41245723: 41245723
1288BRCA1NM_007294.3(BRCA1): c.182G> A (p.Cys61Tyr)single nucleotide variantPathogenicrs80357093GRCh37Chr 17, 41258503: 41258503
1289BRCA1NM_007294.3(BRCA1): c.1837delA (p.Arg613Glyfs)deletionPathogenicrs80357652GRCh37Chr 17, 41245711: 41245711
1290BRCA1NM_007294.3(BRCA1): c.1840A> T (p.Lys614Ter)single nucleotide variantPathogenicrs80357282GRCh37Chr 17, 41245708: 41245708
1291BRCA1NM_007294.3(BRCA1): c.1870G> T (p.Glu624Ter)single nucleotide variantPathogenicrs80356950GRCh37Chr 17, 41245678: 41245678
1292BRCA1NM_007294.3(BRCA1): c.1874_1877dupTAGT (p.Val627Serfs)duplicationPathogenicrs80357516GRCh37Chr 17, 41245671: 41245674
1293BRCA1NM_007294.3(BRCA1): c.1881_1884delCAGT (p.Ser628Glufs)deletionPathogenicrs80357567GRCh37Chr 17, 41245664: 41245667
1294BRCA1NM_007294.3(BRCA1): c.188T> A (p.Leu63Ter)single nucleotide variantPathogenicrs80357086GRCh37Chr 17, 41258497: 41258497
1295BRCA1NM_007294.3(BRCA1): c.1892dupT (p.Ser632Lysfs)duplicationPathogenicrs80357932GRCh37Chr 17, 41245655: 41245656
1296BRCA1NM_007294.3(BRCA1): c.1898delC (p.Pro633Hisfs)deletionPathogenicrs80357851GRCh37Chr 17, 41245650: 41245650
1297BRCA1NM_007294.3(BRCA1): c.189dupA (p.Cys64Metfs)duplicationPathogenicrs273897665GRCh37Chr 17, 41258495: 41258496
1298BRCA1NM_007294.3(BRCA1): c.190T> C (p.Cys64Arg)single nucleotide variantPathogenicrs80357064GRCh37Chr 17, 41258495: 41258495
1299BRCA1NM_007294.3(BRCA1): c.1912G> T (p.Glu638Ter)single nucleotide variantPathogenicrs80357005GRCh37Chr 17, 41245636: 41245636
1300BRCA1NM_007294.3(BRCA1): c.1912delG (p.Glu638Asnfs)deletionPathogenicrs80357933GRCh37Chr 17, 41245636: 41245636
1301BRCA1NM_007294.3(BRCA1): c.1916T> A (p.Leu639Ter)single nucleotide variantPathogenicrs80357267GRCh37Chr 17, 41245632: 41245632
1302BRCA1NM_007294.3(BRCA1): c.191G> A (p.Cys64Tyr)single nucleotide variantPathogenicrs55851803GRCh37Chr 17, 41258494: 41258494
1303BRCA1NM_007294.3(BRCA1): c.1945G> T (p.Glu649Ter)single nucleotide variantPathogenicrs80356907GRCh37Chr 17, 41245603: 41245603
1304BRCA1NM_007294.3(BRCA1): c.1952dupA (p.Lys652Glufs)duplicationPathogenicrs80357885GRCh37Chr 17, 41245595: 41245596
1305BRCA1NM_007294.3(BRCA1): c.1953dupG (p.Lys652Glufs)duplicationPathogenicrs80357753GRCh37Chr 17, 41245594: 41245595
1306BRCA1NM_007294.3(BRCA1): c.195delG (p.Asn66Metfs)deletionPathogenicrs80357869GRCh37Chr 17, 41258490: 41258490
1307BRCA1NM_007294.3(BRCA1): c.1960_1961delAA (p.Lys654Valfs)deletionPathogenicrs80357643GRCh37Chr 17, 41245587: 41245588
1308BRCA1NM_007294.3(BRCA1): c.1961dupA (p.Tyr655Valfs)duplicationPathogenicrs80357853GRCh37Chr 17, 41245586: 41245587
1309BRCA1NM_007294.3(BRCA1): c.1996delC (p.Leu666Tyrfs)deletionPathogenicrs80357922GRCh37Chr 17, 41245552: 41245552
1310BRCA1NM_007294.3(BRCA1): c.1999C> T (p.Gln667Ter)single nucleotide variantPathogenicrs80356889GRCh37Chr 17, 41245549: 41245549
1311BRCA1NM_007294.3(BRCA1): c.1A> G (p.Met1Val)single nucleotide variantPathogenicrs80357287GRCh37Chr 17, 41276113: 41276113
1312BRCA1NM_007294.3(BRCA1): c.2017G> T (p.Glu673Ter)single nucleotide variantPathogenicrs80357391GRCh37Chr 17, 41245531: 41245531
1313BRCA1NM_007294.3(BRCA1): c.2017delG (p.Glu673Asnfs)deletionPathogenicrs80357638GRCh37Chr 17, 41245531: 41245531
1314BRCA1NM_007294.3(BRCA1): c.2019delA (p.Glu673Aspfs)deletionPathogenicrs80357626GRCh37Chr 17, 41245529: 41245529
1315BRCA1NM_007294.3(BRCA1): c.2035A> T (p.Lys679Ter)single nucleotide variantPathogenicrs80357082GRCh37Chr 17, 41245513: 41245513
1316BRCA1NM_007294.3(BRCA1): c.2059C> T (p.Gln687Ter)single nucleotide variantPathogenicrs273898674GRCh37Chr 17, 41245489: 41245489
1317BRCA1NM_007294.3(BRCA1): c.2074delC (p.His692Metfs)deletionPathogenicrs80357554GRCh37Chr 17, 41245474: 41245474
1318BRCA1NM_007294.3(BRCA1): c.2079_2080delCA (p.Asp693Glufs)deletionPathogenicrs80357773GRCh37Chr 17, 41245468: 41245469
1319BRCA1NM_007294.3(BRCA1): c.2105T> G (p.Leu702Ter)single nucleotide variantPathogenicrs80357298GRCh37Chr 17, 41245443: 41245443
1320BRCA1NM_007294.3(BRCA1): c.2110_2111delAA (p.Asn704Cysfs)deletionPathogenicrs80357814GRCh37Chr 17, 41245437: 41245438
1321BRCA1NM_007294.3(BRCA1): c.212+1G> Csingle nucleotide variantPathogenicrs80358042GRCh37Chr 17, 41258472: 41258472
1322BRCA1NM_007294.3(BRCA1): c.212+1G> Tsingle nucleotide variantPathogenicrs80358042GRCh37Chr 17, 41258472: 41258472
1323BRCA1NM_007294.3(BRCA1): c.212+2T> Csingle nucleotide variantPathogenicrs80358026GRCh37Chr 17, 41258471: 41258471
1324BRCA1NM_007294.3(BRCA1): c.212+3A> Gsingle nucleotide variantPathogenicrs80358083GRCh37Chr 17, 41258470: 41258470
1325BRCA1NM_007294.3(BRCA1): c.2125_2126insA (p.Phe709Tyrfs)insertionPathogenicrs80357871GRCh37Chr 17, 41245422: 41245423
1326BRCA1NM_007294.3(BRCA1): c.212G> A (p.Arg71Lys)single nucleotide variantPathogenicrs80356913GRCh37Chr 17, 41258473: 41258473
1327BRCA1NM_007294.3(BRCA1): c.213-1G> Asingle nucleotide variantPathogenicrs80358146GRCh37Chr 17, 41256974: 41256974
1328BRCA1NM_007294.3(BRCA1): c.2142delT (p.Asn714Lysfs)deletionPathogenicrs273898679GRCh37Chr 17, 41245406: 41245406
1329BRCA1NM_007294.3(BRCA1): c.2176delC (p.Leu726Phefs)deletionPathogenicrs80357668GRCh37Chr 17, 41245372: 41245372
1330BRCA1NM_007294.3(BRCA1): c.2188G> T (p.Glu730Ter)single nucleotide variantPathogenicrs80357058GRCh37Chr 17, 41245360: 41245360
1331BRCA1NM_007294.3(BRCA1): c.2188_2201delGAAAAAGAAGAGAA (p.Glu730Thrfs)deletionPathogenicrs273898681GRCh37Chr 17, 41245347: 41245360
1332BRCA1NM_007294.3(BRCA1): c.2194G> T (p.Glu732Ter)single nucleotide variantPathogenicrs80357426GRCh37Chr 17, 41245354: 41245354
1333BRCA1NM_007294.3(BRCA1): c.2197G> T (p.Glu733Ter)single nucleotide variantPathogenicrs397508949GRCh37Chr 17, 41245351: 41245351
1334BRCA1NM_007294.3(BRCA1): c.2197_2201delGAGAA (p.Glu733Thrfs)deletionPathogenicrs80357539GRCh37Chr 17, 41245347: 41245351
1335BRCA1NM_007294.3(BRCA1): c.2202delA (p.Lys734Asnfs)deletionPathogenicrs80357982GRCh37Chr 17, 41245346: 41245346
1336BRCA1NM_007294.3(BRCA1): c.2203delC (p.Leu735Terfs)deletionPathogenicrs80357936GRCh37Chr 17, 41245345: 41245345
1337BRCA1NM_007294.3(BRCA1): c.2206delG (p.Glu736Lysfs)deletionPathogenicrs80357860GRCh37Chr 17, 41245342: 41245342
1338BRCA1NM_007294.3(BRCA1): c.220C> T (p.Gln74Ter)single nucleotide variantPathogenicrs80357234GRCh37Chr 17, 41256966: 41256966
1339BRCA1NM_007294.3(BRCA1): c.2210delC (p.Thr737Lysfs)deletionPathogenicrs80357793GRCh37Chr 17, 41245338: 41245338
1340BRCA1NM_007294.3(BRCA1): c.2215A> T (p.Lys739Ter)single nucleotide variantPathogenicrs56329598GRCh37Chr 17, 41245333: 41245333
1341BRCA1NM_007294.3(BRCA1): c.2236dupG (p.Asp746Glyfs)duplicationPathogenicrs80357909GRCh37Chr 17, 41245311: 41245312
1342BRCA1NM_007294.3(BRCA1): c.2241delC (p.Asp749Ilefs)deletionPathogenicrs80357650GRCh37Chr 17, 41245307: 41245307
1343BRCA1NM_007294.3(BRCA1): c.2241dupC (p.Lys748Glnfs)duplicationPathogenicrs397508953GRCh37Chr 17, 41245306: 41245307
1344BRCA1NM_007294.3(BRCA1): c.224_227delAAAG (p.Glu75Valfs)deletionPathogenicrs80357697GRCh37Chr 17, 41256959: 41256962
1345BRCA1NM_007294.3(BRCA1): c.2253_2254delGT (p.Met751Ilefs)deletionPathogenicrs80357602GRCh37Chr 17, 41245294: 41245295
1346BRCA1NM_007294.3(BRCA1): c.2263G> T (p.Glu755Ter)single nucleotide variantPathogenicrs41286296GRCh37Chr 17, 41245285: 41245285
1347BRCA1NM_007294.3(BRCA1): c.2263delG (p.Glu755Lysfs)deletionPathogenicrs80357960GRCh37Chr 17, 41245285: 41245285
1348BRCA1NM_007294.3(BRCA1): c.2275C> T (p.Gln759Ter)single nucleotide variantPathogenicrs80356999GRCh37Chr 17, 41245273: 41245273
1349BRCA1NM_007294.3(BRCA1): c.2283_2284delAA (p.Arg762Ilefs)deletionPathogenicrs80357657GRCh37Chr 17, 41245264: 41245265
1350BRCA1NM_007294.3(BRCA1): c.2293G> T (p.Glu765Ter)single nucleotide variantPathogenicrs80357449GRCh37Chr 17, 41245255: 41245255
1351BRCA1NM_007294.3(BRCA1): c.2309C> A (p.Ser770Ter)single nucleotide variantPathogenicrs80357063GRCh37Chr 17, 41245239: 41245239
1352BRCA1NM_007294.3(BRCA1): c.2314delG (p.Val772Tyrfs)deletionPathogenicrs80357957GRCh37Chr 17, 41245234: 41245234
1353BRCA1NM_007294.3(BRCA1): c.2329delT (p.Tyr777Metfs)deletionPathogenicrs80357725GRCh37Chr 17, 41245219: 41245219
1354BRCA1NM_007294.3(BRCA1): c.232delA (p.Arg78Aspfs)deletionPathogenicrs80357884GRCh37Chr 17, 41256954: 41256954
1355BRCA1NM_007294.3(BRCA1): c.2331T> A (p.Tyr777Ter)single nucleotide variantPathogenicrs80357444GRCh37Chr 17, 41245217: 41245217
1356BRCA1NM_007294.3(BRCA1): c.2338C> T (p.Gln780Ter)single nucleotide variantPathogenicrs80356945GRCh37Chr 17, 41245210: 41245210
1357BRCA1NM_007294.3(BRCA1): c.2351_2357delCGTTACT (p.Ser784Trpfs)deletionPathogenicrs80357820GRCh37Chr 17, 41245191: 41245197
1358BRCA1NM_007294.3(BRCA1): c.2359dupG (p.Glu787Glyfs)duplicationPathogenicrs80357739GRCh37Chr 17, 41245188: 41245189
1359BRCA1NM_007294.3(BRCA1): c.2389_2390delGA (p.Glu797Thrfs)deletionPathogenicrs80357695GRCh37Chr 17, 41245158: 41245159
1360BRCA1NM_007294.3(BRCA1): c.2390_2391delAA (p.Glu797Alafs)deletionPathogenicrs80357546GRCh37Chr 17, 41245157: 41245158
1361BRCA1NM_007294.3(BRCA1): c.2393delC (p.Pro798Glnfs)deletionPathogenicrs80357850GRCh37Chr 17, 41245155: 41245155
1362BRCA1NM_007294.3(BRCA1): c.2403T> A (p.Cys801Ter)single nucleotide variantPathogenicrs80357381GRCh37Chr 17, 41245145: 41245145
1363BRCA1NM_007294.3(BRCA1): c.2405_2406delTG (p.Val802Glufs)deletionPathogenicrs80357706GRCh37Chr 17, 41245142: 41245143
1364BRCA1NM_007294.3(BRCA1): c.2406_2409delGAGT (p.Gln804Valfs)deletionPathogenicrs80357674GRCh37Chr 17, 41245139: 41245142
1365BRCA1NM_007294.3(BRCA1): c.2410C> T (p.Gln804Ter)single nucleotide variantPathogenicrs80356982GRCh37Chr 17, 41245138: 41245138
1366BRCA1NM_007294.3(BRCA1): c.241C> T (p.Gln81Ter)single nucleotide variantPathogenicrs80357350GRCh37Chr 17, 41256945: 41256945
1367BRCA1NM_007294.3(BRCA1): c.2437G> T (p.Gly813Ter)single nucleotide variantPathogenicrs80357186GRCh37Chr 17, 41245111: 41245111
1368BRCA1NM_007294.3(BRCA1): c.2443delA (p.Ile815Phefs)deletionPathogenicrs80357598GRCh37Chr 17, 41245105: 41245105
1369BRCA1NM_007294.3(BRCA1): c.2450delG (p.Gly817Valfs)deletionPathogenicrs80357679GRCh37Chr 17, 41245098: 41245098
1370BRCA1NM_007294.3(BRCA1): c.2468delG (p.Arg823Lysfs)deletionPathogenicrs80357799GRCh37Chr 17, 41245080: 41245080
1371BRCA1NM_007294.3(BRCA1): c.2476delA (p.Thr826Glnfs)deletionPathogenicrs80357631GRCh37Chr 17, 41245072: 41245072
1372BRCA1NM_007294.3(BRCA1): c.2477_2478delCA (p.Thr826Argfs)deletionPathogenicrs80357800GRCh37Chr 17, 41245070: 41245071
1373BRCA1NM_007294.3(BRCA1): c.2477delC (p.Thr826Lysfs)deletionPathogenicrs80357740GRCh37Chr 17, 41245071: 41245071
1374BRCA1NM_007294.3(BRCA1): c.2487delT (p.Phe829Leufs)deletionPathogenicrs80357658GRCh37Chr 17, 41245061: 41245061
1375BRCA1NM_007294.3(BRCA1): c.2513delA (p.Asn838Thrfs)deletionPathogenicrs80357863GRCh37Chr 17, 41245035: 41245035
1376BRCA1NM_007294.3(BRCA1): c.2517_2518delCA (p.His839Glnfs)deletionPathogenicrs397508974GRCh37Chr 17, 41245030: 41245031
1377BRCA1NM_007294.3(BRCA1): c.2545G> T (p.Glu849Ter)single nucleotide variantPathogenicrs80356951GRCh37Chr 17, 41245003: 41245003
1378BRCA1NM_007294.3(BRCA1): c.2558dupA (p.Asp853Glufs)duplicationPathogenicrs80357835GRCh37Chr 17, 41244989: 41244990
1379BRCA1NM_007294.3(BRCA1): c.2568T> G (p.Tyr856Ter)single nucleotide variantPathogenicrs80356832GRCh37Chr 17, 41244980: 41244980
1380BRCA1NM_007294.3(BRCA1): c.2594delA (p.Lys865Serfs)deletionPathogenicrs397508984GRCh37Chr 17, 41244954: 41244954
1381BRCA1NM_007294.3(BRCA1): c.2611_2612delCC (p.Pro871Valfs)deletionPathogenicrs80357962GRCh37Chr 17, 41244936: 41244937
1382BRCA1NM_007294.3(BRCA1): c.2612_2613insT (p.Phe872Valfs)insertionPathogenicrs80357948GRCh37Chr 17, 41244935: 41244936
1383BRCA1NM_007294.3(BRCA1): c.2617dupT (p.Ser873Phefs)duplicationPathogenicrs80357912GRCh37Chr 17, 41244930: 41244931
1384BRCA1NM_007294.3(BRCA1): c.2646_2648delTGC (p.Cys882Ter)deletionPathogenicrs80357513GRCh37Chr 17, 41244900: 41244902
1385BRCA1NM_007294.3(BRCA1): c.2670delG (p.Ser891Profs)deletionPathogenicrs80357659GRCh37Chr 17, 41244878: 41244878
1386BRCA1NM_007294.3(BRCA1): c.2675_2678delTAAA (p.Leu892Terfs)deletionPathogenicrs80357518GRCh37Chr 17, 41244870: 41244873
1387BRCA1NM_007294.3(BRCA1): c.2685_2686delAA (p.Pro897Lysfs)deletionPathogenicrs80357636GRCh37Chr 17, 41244862: 41244863
1388BRCA1NM_007294.3(BRCA1): c.269_281delTTTGTGCTTTTCA (p.Ile90Serfs)deletionPathogenicrs80359879GRCh37Chr 17, 41256905: 41256917
1389BRCA1NM_007294.3(BRCA1): c.2709delT (p.Cys903Trpfs)deletionPathogenicrs80357594GRCh37Chr 17, 41244839: 41244839
1390BRCA1NM_007294.3(BRCA1): c.2719_2722delGAAG (p.Glu907Lysfs)deletionPathogenicrs80357731GRCh37Chr 17, 41244826: 41244829
1391BRCA1NM_007294.3(BRCA1): c.2722G> T (p.Glu908Ter)single nucleotide variantPathogenicrs80356978GRCh37Chr 17, 41244826: 41244826
1392BRCA1NM_007294.3(BRCA1): c.2726delA (p.Asn909Ilefs)deletionPathogenicrs80357614GRCh37Chr 17, 41244822: 41244822
1393BRCA1NM_007294.3(BRCA1): c.2726dupA (p.Asn909Lysfs)duplicationPathogenicrs80357685GRCh37Chr 17, 41244821: 41244822
1394BRCA1NM_007294.3(BRCA1): c.2727_2730delTCAA (p.Asn909Lysfs)deletionPathogenicrs80357605GRCh37Chr 17, 41244818: 41244821
1395BRCA1NM_007294.3(BRCA1): c.2740G> T (p.Glu914Ter)single nucleotide variantPathogenicrs80357419GRCh37Chr 17, 41244808: 41244808
1396BRCA1NM_007294.3(BRCA1): c.2749dupA (p.Ile917Asnfs)duplicationPathogenicrs80357942GRCh37Chr 17, 41244798: 41244799
1397BRCA1NM_007294.3(BRCA1): c.2761C> T (p.Gln921Ter)single nucleotide variantPathogenicrs80357377GRCh37Chr 17, 41244787: 41244787
1398BRCA1NM_007294.3(BRCA1): c.2762delA (p.Gln921Argfs)deletionPathogenicrs80357703GRCh37Chr 17, 41244786: 41244786
1399BRCA1NM_007294.3(BRCA1): c.2764_2767delACAG (p.Thr922Leufs)deletionPathogenicrs80357822GRCh37Chr 17, 41244781: 41244784
1400BRCA1NM_007294.3(BRCA1): c.2766delA (p.Val923Leufs)deletionPathogenicrs80357812GRCh37Chr 17, 41244782: 41244782
1401BRCA1NM_007294.3(BRCA1): c.2767_2770delGTTA (p.Val923Ilefs)deletionPathogenicrs80357661GRCh37Chr 17, 41244778: 41244781
1402BRCA1NM_007294.3(BRCA1): c.2796_2799delTGGT (p.Gly933Argfs)deletionPathogenicrs80357840GRCh37Chr 17, 41244749: 41244752
1403BRCA1NM_007294.3(BRCA1): c.2800C> T (p.Gln934Ter)single nucleotide variantPathogenicrs80357223GRCh37Chr 17, 41244748: 41244748
1404BRCA1NM_007294.3(BRCA1): c.2805delA (p.Asp936Ilefs)deletionPathogenicrs397509012GRCh37Chr 17, 41244743: 41244743
1405BRCA1NM_007294.3(BRCA1): c.2812_2813delCCinsG (p.Pro938Glufs)indelPathogenicrs273899689GRCh37Chr 17, 41244735: 41244736
1406BRCA1NM_007294.3(BRCA1): c.2832T> A (p.Cys944Ter)single nucleotide variantPathogenicrs80357458GRCh37Chr 17, 41244716: 41244716
1407BRCA1NM_007294.3(BRCA1): c.2834_2836delGTAinsC (p.Ser945Thrfs)indelPathogenicrs386134270GRCh37Chr 17, 41244712: 41244714
1408BRCA1NM_007294.3(BRCA1): c.2835dupT (p.Ile946Tyrfs)duplicationPathogenicrs80357519GRCh37Chr 17, 41244712: 41244713
1409BRCA1NM_007294.3(BRCA1): c.2840_2841delAA (p.Lys947Argfs)deletionPathogenicrs80357984GRCh37Chr 17, 41244707: 41244708
1410BRCA1NM_007294.3(BRCA1): c.2864C> A (p.Ser955Ter)single nucleotide variantPathogenicrs80357295GRCh37Chr 17, 41244684: 41244684
1411BRCA1NM_007294.3(BRCA1): c.2866_2870delTCTCA (p.Ser956Valfs)deletionPathogenicrs80357961GRCh37Chr 17, 41244678: 41244682
1412BRCA1NM_007294.3(BRCA1): c.2869C> T (p.Gln957Ter)single nucleotide variantPathogenicrs80356973GRCh37Chr 17, 41244679: 41244679
1413BRCA1NM_007294.3(BRCA1): c.2887delA (p.Thr963Leufs)deletionPathogenicrs80357559GRCh37Chr 17, 41244661: 41244661
1414BRCA1NM_007294.3(BRCA1): c.290_291delCA (p.Thr97Argfs)deletionPathogenicrs80357738GRCh37Chr 17, 41256895: 41256896
1415BRCA1NM_007294.3(BRCA1): c.2910delA (p.Lys970Asnfs)deletionPathogenicrs80357893GRCh37Chr 17, 41244638: 41244638
1416BRCA1NM_007294.3(BRCA1): c.2915delG (p.Gly972Aspfs)deletionPathogenicrs80357573GRCh37Chr 17, 41244633: 41244633
1417BRCA1NM_007294.3(BRCA1): c.2920_2921delTT (p.Leu974Thrfs)deletionPathogenicrs80357611GRCh37Chr 17, 41244627: 41244628
1418BRCA1NM_007294.3(BRCA1): c.2921T> A (p.Leu974Ter)single nucleotide variantPathogenicrs80356872GRCh37Chr 17, 41244627: 41244627
1419BRCA1NM_007294.3(BRCA1): c.2923C> T (p.Gln975Ter)single nucleotide variantPathogenicrs80357497GRCh37Chr 17, 41244625: 41244625
1420BRCA1NM_007294.3(BRCA1): c.2934delT (p.Arg979Valfs)deletionPathogenicrs80357741GRCh37Chr 17, 41244614: 41244614
1421BRCA1NM_007294.3(BRCA1): c.2952delT (p.Ile986Serfs)deletionPathogenicrs80357627GRCh37Chr 17, 41244596: 41244596
1422BRCA1NM_007294.3(BRCA1): c.2955delC (p.Ile986Serfs)deletionPathogenicrs397509027GRCh37Chr 17, 41244593: 41244593
1423BRCA1NM_007294.3(BRCA1): c.2980delT (p.Cys994Valfs)deletionPathogenicrs80357502GRCh37Chr 17, 41244568: 41244568
1424BRCA1NM_007294.3(BRCA1): c.2999delA (p.Glu1000Glyfs)deletionPathogenicrs80357991GRCh37Chr 17, 41244549: 41244549
1425BRCA1NM_007294.3(BRCA1): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs80357111GRCh37Chr 17, 41276112: 41276112
1426BRCA1NM_007294.3(BRCA1): c.2T> G (p.Met1Arg)single nucleotide variantPathogenicrs80357111GRCh37Chr 17, 41276112: 41276112
1427BRCA1NM_007294.3(BRCA1): c.3008_3009delTT (p.Phe1003Terfs)deletionPathogenicrs80357617GRCh37Chr 17, 41244539: 41244540
1428BRCA1NM_007294.3(BRCA1): c.3013delG (p.Glu1005Asnfs)deletionPathogenicrs80357937GRCh37Chr 17, 41244535: 41244535
1429BRCA1NM_007294.3(BRCA1): c.3018_3021delTTCA (p.His1006Glnfs)deletionPathogenicrs80357749GRCh37Chr 17, 41244527: 41244530
1430BRCA1NM_007294.3(BRCA1): c.302-1G> Asingle nucleotide variantPathogenicrs80358116GRCh37Chr 17, 41256279: 41256279
1431BRCA1NM_007294.3(BRCA1): c.302-2delAdeletionPathogenicrs273899695GRCh37Chr 17, 41256280: 41256280
1432BRCA1NM_007294.3(BRCA1): c.3020C> G (p.Ser1007Ter)single nucleotide variantPathogenicrs80357168GRCh37Chr 17, 41244528: 41244528
1433BRCA1NM_007294.3(BRCA1): c.3026C> A (p.Ser1009Ter)single nucleotide variantPathogenicrs273899696GRCh37Chr 17, 41244522: 41244522
1434BRCA1NM_007294.3(BRCA1): c.3029_3030delCT (p.Pro1010Argfs)deletionPathogenicrs80357510GRCh37Chr 17, 41244518: 41244519
1435BRCA1NM_007294.3(BRCA1): c.303T> G (p.Tyr101Ter)single nucleotide variantPathogenicrs80356936GRCh37Chr 17, 41256277: 41256277
1436BRCA1NM_007294.3(BRCA1): c.3048_3052dupTGAGA (p.Asn1018Metfs)insertionPathogenicrs80357856GRCh37Chr 17, 41244496: 41244500
1437BRCA1NM_007294.3(BRCA1): c.3049G> T (p.Glu1017Ter)single nucleotide variantPathogenicrs80357004GRCh37Chr 17, 41244499: 41244499
1438BRCA1NM_007294.3(BRCA1): c.3084_3094delTAATAACATTA (p.Asn1029Argfs)deletionPathogenicrs80357647GRCh37Chr 17, 41244454: 41244464
1439BRCA1NM_007294.3(BRCA1): c.3097G> T (p.Glu1033Ter)single nucleotide variantPathogenicrs273899698GRCh37Chr 17, 41244451: 41244451
1440BRCA1NM_007294.3(BRCA1): c.3107_3112delTTAAAG (p.Phe1036Ter)deletionPathogenicrs80357920GRCh37Chr 17, 41244436: 41244441
1441BRCA1NM_007294.3(BRCA1): c.3108delT (p.Phe1036Leufs)deletionPathogenicrs80357841GRCh37Chr 17, 41244440: 41244440
1442BRCA1NM_007294.3(BRCA1): c.3108dupT (p.Lys1037Terfs)duplicationPathogenicrs397507209GRCh37Chr 17, 41244439: 41244440
1443BRCA1NM_007294.3(BRCA1): c.3178G> T (p.Glu1060Ter)single nucleotide variantPathogenicrs80357424GRCh37Chr 17, 41244370: 41244370
1444BRCA1NM_007294.3(BRCA1): c.317delA (p.Asn106Ilefs)deletionPathogenicrs80357950GRCh37Chr 17, 41256263: 41256263
1445BRCA1NM_007294.3(BRCA1): c.3181delA (p.Ile1061Terfs)deletionPathogenicrs80357702GRCh37Chr 17, 41244367: 41244367
1446BRCA1NM_007294.3(BRCA1): c.3188_3189delCCinsG (p.Ser1063Terfs)indelPathogenicrs273899701GRCh37Chr 17, 41244359: 41244360
1447BRCA1NM_007294.3(BRCA1): c.3193dupG (p.Asp1065Glyfs)duplicationPathogenicrs80357511GRCh37Chr 17, 41244354: 41244355
1448BRCA1NM_007294.3(BRCA1): c.321delT (p.Phe107Leufs)deletionPathogenicrs80357544GRCh37Chr 17, 41256259: 41256259
1449BRCA1NM_007294.3(BRCA1): c.3226delA (p.Arg1076Glufs)deletionPathogenicrs273899703GRCh37Chr 17, 41244322: 41244322
1450BRCA1NM_007294.3(BRCA1): c.3239T> A (p.Leu1080Ter)single nucleotide variantPathogenicrs80357145GRCh37Chr 17, 41244309: 41244309
1451BRCA1NM_007294.3(BRCA1): c.3253dupA (p.Arg1085Lysfs)duplicationPathogenicrs80357517GRCh37Chr 17, 41244294: 41244295
1452BRCA1NM_007294.3(BRCA1): c.3255dupA (p.Leu1086Ilefs)duplicationPathogenicrs80357624GRCh37Chr 17, 41244292: 41244293
1453BRCA1NM_007294.3(BRCA1): c.3257T> A (p.Leu1086Ter)single nucleotide variantPathogenicrs80357006GRCh37Chr 17, 41244291: 41244291
1454BRCA1NM_007294.3(BRCA1): c.3257T> G (p.Leu1086Ter)single nucleotide variantPathogenicrs80357006GRCh37Chr 17, 41244291: 41244291
1455BRCA1NM_007294.3(BRCA1): c.3257dupT (p.Leu1086Phefs)duplicationPathogenicrs80357858GRCh37Chr 17, 41244290: 41244291
1456BRCA1NM_007294.3(BRCA1): c.3268C> T (p.Gln1090Ter)single nucleotide variantPathogenicrs80357402GRCh37Chr 17, 41244280: 41244280
1457BRCA1NM_007294.3(BRCA1): c.3279delC (p.Tyr1094Ilefs)deletionPathogenicrs397509050GRCh37Chr 17, 41244269: 41244269
1458BRCA1NM_007294.3(BRCA1): c.3286C> T (p.Gln1096Ter)single nucleotide variantPathogenicrs80357485GRCh37Chr 17, 41244262: 41244262
1459BRCA1NM_007294.3(BRCA1): c.3286delC (p.Gln1096Lysfs)deletionPathogenicrs80357533GRCh37Chr 17, 41244262: 41244262
1460BRCA1NM_007294.3(BRCA1): c.3288_3289delAA (p.Leu1098Serfs)deletionPathogenicrs80357686GRCh37Chr 17, 41244259: 41244260
1461BRCA1NM_007294.3(BRCA1): c.3292_3293delCT (p.Leu1098Serfs)deletionPathogenicrs80357992GRCh37Chr 17, 41244255: 41244256
1462BRCA1NM_007294.3(BRCA1): c.3296delC (p.Pro1099Leufs)deletionPathogenicrs80357815GRCh37Chr 17, 41244252: 41244252
1463BRCA1NM_007294.3(BRCA1): c.329_330delAG (p.Lys110Argfs)deletionPathogenicrs80357754GRCh37Chr 17, 41256250: 41256251
1464BRCA1NM_007294.3(BRCA1): c.329dupA (p.Glu111Glyfs)duplicationPathogenicrs80357604GRCh37Chr 17, 41256250: 41256251
1465BRCA1NM_007294.3(BRCA1): c.32_33insC (p.Gln12Thrfs)insertionPathogenicrs80357811GRCh37Chr 17, 41276081: 41276082
1466BRCA1NM_007294.3(BRCA1): c.3309T> A (p.Cys1103Ter)single nucleotide variantPathogenicrs80357317GRCh37Chr 17, 41244239: 41244239
1467BRCA1NM_007294.3(BRCA1): c.3319G> T (p.Glu1107Ter)single nucleotide variantPathogenicrs80357106GRCh37Chr 17, 41244229: 41244229
1468BRCA1NM_007294.3(BRCA1): c.3325_3329delAAAAA (p.Lys1109Alafs)deletionPathogenicrs80357680GRCh37Chr 17, 41244219: 41244223
1469BRCA1NM_007294.3(BRCA1): c.3326_3329delAAAA (p.Lys1109Serfs)deletionPathogenicrs80357575GRCh37Chr 17, 41244219: 41244222
1470BRCA1NM_007294.3(BRCA1): c.3329_3330delAG (p.Lys1110Thrfs)deletionPathogenicrs80357525GRCh37Chr 17, 41244218: 41244219
1471BRCA1NM_007294.3(BRCA1): c.3329dupA (p.Gln1111Alafs)duplicationPathogenicrs80357692GRCh37Chr 17, 41244218: 41244219
1472BRCA1NM_007294.3(BRCA1): c.3331C> T (p.Gln1111Ter)single nucleotide variantPathogenicrs80357089GRCh37Chr 17, 41244217: 41244217
1473BRCA1NM_007294.3(BRCA1): c.3333delA (p.Glu1112Asnfs)deletionPathogenicrs80357966GRCh37Chr 17, 41244215: 41244215
1474BRCA1NM_007294.3(BRCA1): c.3339T> G (p.Tyr1113Ter)single nucleotide variantPathogenicrs80357421GRCh37Chr 17, 41244209: 41244209
1475BRCA1NM_007294.3(BRCA1): c.3340G> T (p.Glu1114Ter)single nucleotide variantPathogenicrs80357278GRCh37Chr 17, 41244208: 41244208
1476BRCA1NM_007294.3(BRCA1): c.3342_3345delAGAA (p.Glu1115Terfs)deletionPathogenicrs397509058GRCh37Chr 17, 41244203: 41244206
1477BRCA1NM_007294.3(BRCA1): c.3343delG (p.Glu1115Lysfs)deletionPathogenicrs273899705GRCh37Chr 17, 41244205: 41244205
1478BRCA1NM_007294.3(BRCA1): c.3359_3360delTT (p.Val1120Glufs)deletionPathogenicrs80357843GRCh37Chr 17, 41244188: 41244189
1479BRCA1NM_007294.3(BRCA1): c.3362delA (p.Asn1121Ilefs)deletionPathogenicrs80357865GRCh37Chr 17, 41244186: 41244186
1480BRCA1NM_007294.3(BRCA1): c.3365_3366delCA (p.Thr1122Argfs)deletionPathogenicrs80357892GRCh37Chr 17, 41244182: 41244183
1481BRCA1NM_007294.3(BRCA1): c.3375_3376delTC (p.Pro1126Ilefs)deletionPathogenicrs80357828GRCh37Chr 17, 41244172: 41244173
1482BRCA1NM_007294.3(BRCA1): c.3390delA (p.Asp1131Ilefs)deletionPathogenicrs80357900GRCh37Chr 17, 41244158: 41244158
1483BRCA1NM_007294.3(BRCA1): c.3397_3398delTT (p.Leu1133Argfs)deletionPathogenicrs80357577GRCh37Chr 17, 41244150: 41244151
1484BRCA1NM_007294.3(BRCA1): c.3398T> A (p.Leu1133Ter)single nucleotide variantPathogenicrs80356971GRCh37Chr 17, 41244150: 41244150
1485BRCA1NM_007294.3(BRCA1): c.3403C> T (p.Gln1135Ter)single nucleotide variantPathogenicrs80357136GRCh37Chr 17, 41244145: 41244145
1486BRCA1NM_007294.3(BRCA1): c.3417delT (p.Ser1139Argfs)deletionPathogenicrs273899706GRCh37Chr 17, 41244131: 41244131
1487BRCA1NM_007294.3(BRCA1): c.3424G> C (p.Ala1142Pro)single nucleotide variantPathogenicrs80357101GRCh37Chr 17, 41244124: 41244124
1488BRCA1NM_007294.3(BRCA1): c.342_343delTC (p.Pro115Terfs)deletionPathogenicrs80357881GRCh37Chr 17, 41256237: 41256238
1489BRCA1NM_007294.3(BRCA1): c.3430C> T (p.Gln1144Ter)single nucleotide variantPathogenicrs80357369GRCh37Chr 17, 41244118: 41244118
1490BRCA1NM_007294.3(BRCA1): c.3436_3439delTGTT (p.Cys1146Leufs)deletionPathogenicrs397509067GRCh37Chr 17, 41244109: 41244112
1491BRCA1NM_007294.3(BRCA1): c.3477_3479delAAAinsC (p.Lys1160Glyfs)indelPathogenicrs273899707GRCh37Chr 17, 41244069: 41244071
1492BRCA1NM_007294.3(BRCA1): c.3477_3480delAAAG (p.Ile1159Metfs)deletionPathogenicrs80357781GRCh37Chr 17, 41244068: 41244071
1493BRCA1NM_007294.3(BRCA1): c.34C> T (p.Gln12Ter)single nucleotide variantPathogenicrs80357134GRCh37Chr 17, 41276080: 41276080
1494BRCA1NM_007294.3(BRCA1): c.3531delT (p.Phe1177Leufs)deletionPathogenicrs80357621GRCh37Chr 17, 41244017: 41244017
1495BRCA1NM_007294.3(BRCA1): c.3544C> T (p.Gln1182Ter)single nucleotide variantPathogenicrs80357296GRCh37Chr 17, 41244004: 41244004
1496BRCA1NM_007294.3(BRCA1): c.3549_3550delAGinsT (p.Lys1183Asnfs)indelPathogenicrs273899709GRCh37Chr 17, 41243998: 41243999
1497BRCA1NM_007294.3(BRCA1): c.3569_3570delCT (p.Pro1190Glnfs)deletionPathogenicrs80357845GRCh37Chr 17, 41243978: 41243979
1498BRCA1NM_007294.3(BRCA1): c.3580delA (p.Thr1194Profs)deletionPathogenicrs80357663GRCh37Chr 17, 41243968: 41243968
1499BRCA1NM_007294.3(BRCA1): c.3586dupA (p.Thr1196Asnfs)duplicationPathogenicrs80357531GRCh37Chr 17, 41243961: 41243962
1500BRCA1NM_007294.3(BRCA1): c.3598C> T (p.Gln1200Ter)single nucleotide variantPathogenicrs62625307GRCh37Chr 17, 41243950: 41243950
1501BRCA1NM_007294.3(BRCA1): c.3619A> T (p.Lys1207Ter)single nucleotide variantPathogenicrs80357455GRCh37Chr 17, 41243929: 41243929
1502BRCA1NM_007294.3(BRCA1): c.3626delT (p.Leu1209Terfs)deletionPathogenicrs80357571GRCh37Chr 17, 41243922: 41243922
1503BRCA1NM_007294.3(BRCA1): c.3629_3630delAG (p.Glu1210Valfs)deletionPathogenicrs80357589GRCh37Chr 17, 41243918: 41243919
1504BRCA1NM_007294.3(BRCA1): c.3640G> T (p.Glu1214Ter)single nucleotide variantPathogenicrs80356923GRCh37Chr 17, 41243908: 41243908
1505BRCA1NM_007294.3(BRCA1): c.3642_3643delGA (p.Asn1215Leufs)deletionPathogenicrs80357805GRCh37Chr 17, 41243905: 41243906
1506BRCA1NM_007294.3(BRCA1): c.3661G> T (p.Glu1221Ter)single nucleotide variantPathogenicrs80357310GRCh37Chr 17, 41243887: 41243887
1507BRCA1NM_007294.3(BRCA1): c.3664G> T (p.Glu1222Ter)single nucleotide variantPathogenicrs80357356GRCh37Chr 17, 41243884: 41243884
1508BRCA1NM_007294.3(BRCA1): c.3668_3671dupTTCC (p.Cys1225Serfs)duplicationPathogenicrs80357797GRCh37Chr 17, 41243877: 41243880
1509BRCA1NM_007294.3(BRCA1): c.3676_3679delTTCC (p.Phe1226Asnfs)deletionPathogenicrs80357671GRCh37Chr 17, 41243869: 41243872
1510BRCA1NM_007294.3(BRCA1): c.3699delA (p.Val1234Terfs)deletionPathogenicrs80357873GRCh37Chr 17, 41243849: 41243849
1511BRCA1NM_007294.3(BRCA1): c.3706_3707delAA (p.Asn1236Tyrfs)deletionPathogenicrs80357666GRCh37Chr 17, 41243841: 41243842
1512BRCA1NM_007294.3(BRCA1): c.3706_3713delAATATACC (p.Asn1236Phefs)deletionPathogenicrs80357552GRCh37Chr 17, 41243835: 41243842
1513BRCA1NM_007294.3(BRCA1): c.3710delT (p.Ile1237Asnfs)deletionPathogenicrs80357564GRCh37Chr 17, 41243838: 41243838
1514BRCA1NM_007294.3(BRCA1): c.3715_3717delTCTinsC (p.Ser1239Profs)indelPathogenicrs273900714GRCh37Chr 17, 41243831: 41243833
1515BRCA1NM_007294.3(BRCA1): c.3718C> T (p.Gln1240Ter)single nucleotide variantPathogenicrs80356903GRCh37Chr 17, 41243830: 41243830
1516BRCA1NM_007294.3(BRCA1): c.3722_3740del19 (p.Ser1241Leufs)deletionPathogenicrs80359882GRCh37Chr 17, 41243808: 41243826
1517BRCA1NM_007294.3(BRCA1): c.3736delA (p.Thr1246Profs)deletionPathogenicrs80357578GRCh37Chr 17, 41243812: 41243812
1518BRCA1NM_007294.3(BRCA1): c.3759dupT (p.Lys1254Terfs)duplicationPathogenicrs80357687GRCh37Chr 17, 41243788: 41243789
1519BRCA1NM_007294.3(BRCA1): c.3760_3761insT (p.Lys1254Ilefs)insertionPathogenicrs80357986GRCh37Chr 17, 41243787: 41243788
1520BRCA1NM_007294.3(BRCA1): c.3782delT (p.Leu1261Tyrfs)deletionPathogenicrs80357545GRCh37Chr 17, 41243766: 41243766
1521BRCA1NM_007294.3(BRCA1): c.3785C> A (p.Ser1262Ter)single nucleotide variantPathogenicrs80357269GRCh37Chr 17, 41243763: 41243763
1522BRCA1NM_007294.3(BRCA1): c.3794delA (p.Asn1265Ilefs)deletionPathogenicrs80357767GRCh37Chr 17, 41243754: 41243754
1523BRCA1NM_007294.3(BRCA1): c.37_40delAATG (p.Asn13Serfs)deletionPathogenicrs80357530GRCh37Chr 17, 41276074: 41276077
1524BRCA1NM_007294.3(BRCA1): c.3817C> T (p.Gln1273Ter)single nucleotide variantPathogenicrs80357208GRCh37Chr 17, 41243731: 41243731
1525BRCA1NM_007294.3(BRCA1): c.3820dupG (p.Val1274Glyfs)duplicationPathogenicrs80357616GRCh37Chr 17, 41243727: 41243728
1526BRCA1NM_007294.3(BRCA1): c.3839_3843delCTCAGinsAGGC (p.Ser1280Terfs)indelPathogenicrs273900717GRCh37Chr 17, 41243705: 41243709
1527BRCA1NM_007294.3(BRCA1): c.3841C> T (p.Gln1281Ter)single nucleotide variantPathogenicrs80356866GRCh37Chr 17, 41243707: 41243707
1528BRCA1NM_007294.3(BRCA1): c.3841_3842delCA (p.Gln1281Glyfs)deletionPathogenicrs80357584GRCh37Chr 17, 41243706: 41243707
1529BRCA1NM_007294.3(BRCA1): c.3856delA (p.Ser1286Valfs)deletionPathogenicrs80357855GRCh37Chr 17, 41243692: 41243692
1530BRCA1NM_007294.3(BRCA1): c.3862delG (p.Glu1288Lysfs)deletionPathogenicrs273900718GRCh37Chr 17, 41243686: 41243686
1531BRCA1NM_007294.3(BRCA1): c.3869_3870delAA (p.Lys1290Metfs)deletionPathogenicrs80357918GRCh37Chr 17, 41243678: 41243679
1532BRCA1NM_007294.3(BRCA1): c.3893C> A (p.Ser1298Ter)single nucleotide variantPathogenicrs80357440GRCh37Chr 17, 41243655: 41243655
1533BRCA1NM_007294.3(BRCA1): c.3895C> T (p.Gln1299Ter)single nucleotide variantPathogenicrs80357038GRCh37Chr 17, 41243653: 41243653
1534BRCA1NM_007294.3(BRCA1): c.3901_3902delAG (p.Ser1301Terfs)deletionPathogenicrs80357646GRCh37Chr 17, 41243646: 41243647
1535BRCA1NM_007294.3(BRCA1): c.3904G> T (p.Glu1302Ter)single nucleotide variantPathogenicrs80357461GRCh37Chr 17, 41243644: 41243644
1536BRCA1NM_007294.3(BRCA1): c.390C> A (p.Tyr130Ter)single nucleotide variantPathogenicrs80356888GRCh37Chr 17, 41256190: 41256190
1537BRCA1NM_007294.3(BRCA1): c.3916_3917delTT (p.Leu1306Aspfs)deletionPathogenicrs80357678GRCh37Chr 17, 41243631: 41243632
1538BRCA1NM_007294.3(BRCA1): c.391A> T (p.Arg131Ter)single nucleotide variantPathogenicrs80357207GRCh37Chr 17, 41256189: 41256189
1539BRCA1NM_007294.3(BRCA1): c.3931_3934delAACA (p.Asn1311Profs)deletionPathogenicrs80357864GRCh37Chr 17, 41243614: 41243617
1540BRCA1NM_007294.3(BRCA1): c.3932delA (p.Asn1311Thrfs)deletionPathogenicrs80357504GRCh37Chr 17, 41243616: 41243616
1541BRCA1NM_007294.3(BRCA1): c.3964A> T (p.Lys1322Ter)single nucleotide variantPathogenicrs80357343GRCh37Chr 17, 41243584: 41243584
1542BRCA1NM_007294.3(BRCA1): c.3966delA (p.Lys1322Asnfs)deletionPathogenicrs80357979GRCh37Chr 17, 41243582: 41243582
1543BRCA1NM_007294.3(BRCA1): c.3967C> T (p.Gln1323Ter)single nucleotide variantPathogenicrs80357262GRCh37Chr 17, 41243581: 41243581
1544BRCA1NM_007294.3(BRCA1): c.3972delG (p.Met1324Ilefs)deletionPathogenicrs80357987GRCh37Chr 17, 41243576: 41243576
1545BRCA1NM_007294.3(BRCA1): c.3973delA (p.Arg1325Glyfs)deletionPathogenicrs80357904GRCh37Chr 17, 41243575: 41243575
1546BRCA1NM_007294.3(BRCA1): c.3G> T (p.Met1Ile)single nucleotide variantPathogenicrs80357475GRCh37Chr 17, 41276111: 41276111
1547BRCA1NM_007294.3(BRCA1): c.4037_4038delAA (p.Gly1348Asnfs)deletionPathogenicrs273900721GRCh37Chr 17, 41243510: 41243511
1548BRCA1NM_007294.3(BRCA1): c.4041_4042delAG (p.Gly1348Asnfs)deletionPathogenicrs80357727GRCh37Chr 17, 41243506: 41243507
1549BRCA1NM_007294.3(BRCA1): c.4052T> A (p.Leu1351Ter)single nucleotide variantPathogenicrs397509132GRCh37Chr 17, 41243496: 41243496
1550BRCA1NM_007294.3(BRCA1): c.4052dupT (p.Leu1351Phefs)duplicationPathogenicrs80357779GRCh37Chr 17, 41243495: 41243496
1551BRCA1NM_007294.3(BRCA1): c.4057G> T (p.Glu1353Ter)single nucleotide variantPathogenicrs80357178GRCh37Chr 17, 41243491: 41243491
1552BRCA1NM_007294.3(BRCA1): c.406dupA (p.Arg136Lysfs)duplicationPathogenicrs80357709GRCh37Chr 17, 41256173: 41256174
1553BRCA1NM_007294.3(BRCA1): c.4075C> T (p.Gln1359Ter)single nucleotide variantPathogenicrs80357456GRCh37Chr 17, 41243473: 41243473
1554BRCA1NM_007294.3(BRCA1): c.4085delA (p.Asp1362Valfs)deletionPathogenicrs80357737GRCh37Chr 17, 41243463: 41243463
1555BRCA1NM_007294.3(BRCA1): c.4097-2A> Gsingle nucleotide variantPathogenicrs80358019GRCh37Chr 17, 41243051: 41243051
1556BRCA1NM_007294.3(BRCA1): c.4122_4123delTG (p.Ser1374Argfs)deletionPathogenicrs80357691GRCh37Chr 17, 41243023: 41243024
1557BRCA1NM_007294.3(BRCA1): c.4123G> T (p.Glu1375Ter)single nucleotide variantPathogenicrs80357397GRCh37Chr 17, 41243023: 41243023
1558BRCA1NM_007294.3(BRCA1): c.412_418delCTACAGA (p.Leu138Valfs)deletionPathogenicrs80357816GRCh37Chr 17, 41256162: 41256168
1559BRCA1NM_007294.3(BRCA1): c.415C> T (p.Gln139Ter)single nucleotide variantPathogenicrs80357372GRCh37Chr 17, 41256165: 41256165
1560BRCA1NM_007294.3(BRCA1): c.4161_4162delTC (p.Gln1388Glufs)deletionPathogenicrs80357565GRCh37Chr 17, 41242984: 41242985
1561BRCA1NM_007294.3(BRCA1): c.4163_4166delAGAG (p.Gln1388Leufs)deletionPathogenicrs80357532GRCh37Chr 17, 41242980: 41242983
1562BRCA1NM_007294.3(BRCA1): c.4165_4166delAG (p.Ser1389Terfs)deletionPathogenicrs80357572GRCh37Chr 17, 41242980: 41242981
1563BRCA1NM_007294.3(BRCA1): c.4167_4170delTGAC (p.Ser1389Argfs)deletionPathogenicrs80357538GRCh37Chr 17, 41242976: 41242979
1564BRCA1NM_007294.3(BRCA1): c.4183C> T (p.Gln1395Ter)single nucleotide variantPathogenicrs80357260GRCh37Chr 17, 41242963: 41242963
1565BRCA1NM_007294.3(BRCA1): c.4185+1G> Tsingle nucleotide variantPathogenicrs80358076GRCh37Chr 17, 41242960: 41242960
1566BRCA1NM_007294.3(BRCA1): c.4185G> A (p.Gln1395=)single nucleotide variantPathogenicrs80356857GRCh37Chr 17, 41242961: 41242961
1567BRCA1NM_007294.3(BRCA1): c.4186C> T (p.Gln1396Ter)single nucleotide variantPathogenicrs80357011GRCh37Chr 17, 41234592: 41234592
1568BRCA1NM_007294.3(BRCA1): c.4195_4196delAC (p.Thr1399Hisfs)deletionPathogenicrs80357649GRCh37Chr 17, 41234582: 41234583
1569BRCA1NM_007294.3(BRCA1): c.4201C> T (p.Gln1401Ter)single nucleotide variantPathogenicrs397509151GRCh37Chr 17, 41234577: 41234577
1570BRCA1NM_007294.3(BRCA1): c.4210delC (p.Leu1404Terfs)deletionPathogenicrs80357765GRCh37Chr 17, 41234568: 41234568
1571BRCA1NM_007294.3(BRCA1): c.4222C> T (p.Gln1408Ter)single nucleotide variantPathogenicrs80356989GRCh37Chr 17, 41234556: 41234556
1572BRCA1NM_007294.3(BRCA1): c.4258C> T (p.Gln1420Ter)single nucleotide variantPathogenicrs80357305GRCh37Chr 17, 41234520: 41234520
1573BRCA1NM_007294.3(BRCA1): c.4300dupA (p.Ser1434Lysfs)duplicationPathogenicrs80357790GRCh37Chr 17, 41234477: 41234478
1574BRCA1NM_007294.3(BRCA1): c.4321dupG (p.Asp1441Glyfs)duplicationPathogenicrs80357748GRCh37Chr 17, 41234456: 41234457
1575BRCA1NM_007294.3(BRCA1): c.4331_4338delATCCAGAA (p.Asn1444Thrfs)deletionPathogenicrs80357825GRCh37Chr 17, 41234440: 41234447
1576BRCA1NM_007294.3(BRCA1): c.4339C> T (p.Gln1447Ter)single nucleotide variantPathogenicrs80357067GRCh37Chr 17, 41234439: 41234439
1577BRCA1NM_007294.3(BRCA1): c.4357+1G> Csingle nucleotide variantPathogenicrs80358027GRCh37Chr 17, 41234420: 41234420
1578BRCA1NM_007294.3(BRCA1): c.4357+1G> Tsingle nucleotide variantPathogenicrs80358027GRCh37Chr 17, 41234420: 41234420
1579BRCA1NM_007294.3(BRCA1): c.4357+2T> Csingle nucleotide variantPathogenicrs80358152GRCh37Chr 17, 41234419: 41234419
1580BRCA1NM_007294.3(BRCA1): c.4370C> G (p.Ser1457Ter)single nucleotide variantPathogenicrs80357130GRCh37Chr 17, 41228619: 41228619
1581BRCA1NM_007294.3(BRCA1): c.4372C> T (p.Gln1458Ter)single nucleotide variantPathogenicrs80356932GRCh37Chr 17, 41228617: 41228617
1582BRCA1NM_007294.3(BRCA1): c.4389C> A (p.Tyr1463Ter)single nucleotide variantPathogenicrs80356997GRCh37Chr 17, 41228600: 41228600
1583BRCA1NM_007294.3(BRCA1): c.4391_4403delCTATAAGCCAGAAinsTT (p.Pro1464Leufs)indelPathogenicrs273900731GRCh37Chr 17, 41228586: 41228598
1584BRCA1NM_007294.3(BRCA1): c.4480G> T (p.Glu1494Ter)single nucleotide variantPathogenicrs80357148GRCh37Chr 17, 41228509: 41228509
1585BRCA1NM_007294.3(BRCA1): c.4485-1G> Asingle nucleotide variantPathogenicrs80358189GRCh37Chr 17, 41226539: 41226539
1586BRCA1NM_007294.3(BRCA1): c.4485-2A> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs80358054GRCh37Chr 17, 41226540: 41226540
1587BRCA1NM_007294.3(BRCA1): c.4487C> A (p.Ser1496Ter)single nucleotide variantPathogenicrs80356953GRCh37Chr 17, 41226536: 41226536
1588BRCA1NM_007294.3(BRCA1): c.4487C> G (p.Ser1496Ter)single nucleotide variantPathogenicrs80356953GRCh37Chr 17, 41226536: 41226536
1589BRCA1NM_007294.3(BRCA1): c.4508C> A (p.Ser1503Ter)single nucleotide variantPathogenicrs80357437GRCh37Chr 17, 41226515: 41226515
1590BRCA1NM_007294.3(BRCA1): c.4516delG (p.Asp1506Ilefs)deletionPathogenicrs273900736GRCh37Chr 17, 41226507: 41226507
1591BRCA1NM_007294.3(BRCA1): c.4524G> A (p.Trp1508Ter)single nucleotide variantPathogenicrs80356885GRCh37Chr 17, 41226499: 41226499
1592BRCA1NM_007294.3(BRCA1): c.4533_4534delCA (p.His1511Glnfs)deletionPathogenicrs80357534GRCh37Chr 17, 41226489: 41226490
1593BRCA1NM_007294.3(BRCA1): c.4552C> T (p.Gln1518Ter)single nucleotide variantPathogenicrs80356881GRCh37Chr 17, 41226471: 41226471
1594BRCA1NM_007294.3(BRCA1): c.4574_4575delAA (p.Gln1525Argfs)deletionPathogenicrs80357813GRCh37Chr 17, 41226448: 41226449
1595BRCA1NM_007294.3(BRCA1): c.4595_4596insCT (p.Asp1533Leufs)insertionPathogenicrs80357699GRCh37Chr 17, 41226427: 41226428
1596BRCA1NM_007294.3(BRCA1): c.4603G> T (p.Glu1535Ter)single nucleotide variantPathogenicrs80357366GRCh37Chr 17, 41226420: 41226420
1597BRCA1NM_007294.3(BRCA1): c.4609C> T (p.Gln1537Ter)single nucleotide variantPathogenicrs80357229GRCh37Chr 17, 41226414: 41226414
1598BRCA1NM_007294.3(BRCA1): c.4611_4612insG (p.Gln1538Alafs)insertionPathogenicrs80357915GRCh37Chr 17, 41226411: 41226412
1599BRCA1NM_007294.3(BRCA1): c.4612C> T (p.Gln1538Ter)single nucleotide variantPathogenicrs80356992GRCh37Chr 17, 41226411: 41226411
1600BRCA1NM_007294.3(BRCA1): c.4618G> T (p.Glu1540Ter)single nucleotide variantPathogenicrs80357277GRCh37Chr 17, 41226405: 41226405
1601BRCA1NM_007294.3(BRCA1): c.4621G> T (p.Glu1541Ter)single nucleotide variantPathogenicrs80357248GRCh37Chr 17, 41226402: 41226402
1602BRCA1NM_007294.3(BRCA1): c.4625_4626delCT (p.Ser1542Trpfs)deletionPathogenicrs80357542GRCh37Chr 17, 41226397: 41226398
1603BRCA1NM_007294.3(BRCA1): c.4655_4658delACTT (p.Tyr1552Cysfs)deletionPathogenicrs80357561GRCh37Chr 17, 41226365: 41226368
1604BRCA1NM_007294.3(BRCA1): c.4675+1G> Asingle nucleotide variantPathogenicrs80358044GRCh37Chr 17, 41226347: 41226347
1605BRCA1NM_007294.3(BRCA1): c.4678G> T (p.Gly1560Ter)single nucleotide variantPathogenicrs80357349GRCh37Chr 17, 41223253: 41223253
1606BRCA1NM_007294.3(BRCA1): c.4712_4716delTCTCT (p.Phe1571Terfs)deletionPathogenicrs80357718GRCh37Chr 17, 41223215: 41223219
1607BRCA1NM_007294.3(BRCA1): c.4745delA (p.Asp1582Alafs)deletionPathogenicrs80357907GRCh37Chr 17, 41223186: 41223186
1608BRCA1NM_007294.3(BRCA1): c.4754_4755delCA (p.Pro1585Argfs)deletionPathogenicrs80357837GRCh37Chr 17, 41223176: 41223177
1609BRCA1NM_007294.3(BRCA1): c.4801A> T (p.Lys1601Ter)single nucleotide variantPathogenicrs80357303GRCh37Chr 17, 41223130: 41223130
1610BRCA1NM_007294.3(BRCA1): c.4810C> T (p.Gln1604Ter)single nucleotide variantPathogenicrs80357352GRCh37Chr 17, 41223121: 41223121
1611BRCA1NM_007294.3(BRCA1): c.485_486delTG (p.Val162Glufs)deletionPathogenicrs80357708GRCh37Chr 17, 41251853: 41251854
1612BRCA1NM_007294.3(BRCA1): c.4903G> T (p.Glu1635Ter)single nucleotide variantPathogenicrs200432771GRCh37Chr 17, 41223028: 41223028
1613BRCA1NM_007294.3(BRCA1): c.4936delG (p.Val1646Serfs)deletionPathogenicrs80357705GRCh37Chr 17, 41222995: 41222995
1614BRCA1NM_007294.3(BRCA1): c.493delC (p.Leu165Terfs)deletionPathogenicrs80357551GRCh37Chr 17, 41251846: 41251846
1615BRCA1NM_007294.3(BRCA1): c.4941delC (p.Asn1647Lysfs)deletionPathogenicrs80357905GRCh37Chr 17, 41222990: 41222990
1616BRCA1NM_007294.3(BRCA1): c.494dupT (p.Arg166Glufs)duplicationPathogenicrs80357762GRCh37Chr 17, 41251844: 41251845
1617BRCA1NM_007294.3(BRCA1): c.4981G> T (p.Glu1661Ter)single nucleotide variantPathogenicrs80357401GRCh37Chr 17, 41222950: 41222950
1618BRCA1NM_007294.3(BRCA1): c.4986+3G> Csingle nucleotide variantPathogenicrs80358023GRCh37Chr 17, 41222942: 41222942
1619BRCA1NM_007294.3(BRCA1): c.4986+4A> Tsingle nucleotide variantPathogenicrs80358087GRCh37Chr 17, 41222941: 41222941
1620BRCA1NM_007294.3(BRCA1): c.4986+6T> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs80358086GRCh37Chr 17, 41222939: 41222939
1621BRCA1NM_007294.3(BRCA1): c.4999A> T (p.Lys1667Ter)single nucleotide variantPathogenicrs80357204GRCh37Chr 17, 41219700: 41219700
1622BRCA1NM_007294.3(BRCA1): c.5005delG (p.Ala1669Profs)deletionPathogenicrs80357938GRCh37Chr 17, 41219694: 41219694
1623BRCA1NM_007294.3(BRCA1): c.5026_5036delTTAACTAATCT (p.Leu1676Asnfs)deletionPathogenicrs80357894GRCh37Chr 17, 41219663: 41219673
1624BRCA1NM_007294.3(BRCA1): c.5035delC (p.Leu1679Terfs)deletionPathogenicrs80357896GRCh37Chr 17, 41219664: 41219664
1625BRCA1NM_007294.3(BRCA1): c.5040delT (p.Thr1681Leufs)deletionPathogenicrs80357673GRCh37Chr 17, 41219659: 41219659
1626BRCA1NM_007294.3(BRCA1): c.5047G> T (p.Glu1683Ter)single nucleotide variantPathogenicrs80356879GRCh37Chr 17, 41219652: 41219652
1627BRCA1NM_007294.3(BRCA1): c.505C> T (p.Gln169Ter)single nucleotide variantPathogenicrs80357133GRCh37Chr 17, 41251834: 41251834
1628BRCA1NM_007294.3(BRCA1): c.5062_5064delGTT (p.Val1688del)deletionPathogenicrs80358344GRCh37Chr 17, 41219635: 41219637
1629BRCA1NM_007294.3(BRCA1): c.5071dupA (p.Thr1691Asnfs)duplicationPathogenicrs80357672GRCh37Chr 17, 41219627: 41219628
1630BRCA1NM_007294.3(BRCA1): c.5074G> T (p.Asp1692Tyr)single nucleotide variantPathogenicrs80187739GRCh37Chr 17, 41219625: 41219625
1631BRCA1NM_007294.3(BRCA1): c.5075-1G> Asingle nucleotide variantPathogenicrs1800747GRCh37Chr 17, 41215969: 41215969
1632BRCA1NM_007294.3(BRCA1): c.5075-2A> Csingle nucleotide variantPathogenicrs80358066GRCh37Chr 17, 41215970: 41215970
1633BRCA1NM_007294.3(BRCA1): c.5075-2A> Tsingle nucleotide variantPathogenicrs80358066GRCh37Chr 17, 41215970: 41215970
1634BRCA1NM_007294.3(BRCA1): c.5080G> T (p.Glu1694Ter)single nucleotide variantPathogenicrs80356896GRCh37Chr 17, 41215963: 41215963
1635BRCA1NM_007294.3(BRCA1): c.5084_5085delTT (p.Phe1695Cysfs)deletionPathogenicrs80357760GRCh37Chr 17, 41215958: 41215959
1636BRCA1NM_007294.3(BRCA1): c.5091_5092delTG (p.Cys1697Terfs)deletionPathogenicrs80357710GRCh37Chr 17, 41215951: 41215952
1637BRCA1NM_007294.3(BRCA1): c.5095C> T (p.Arg1699Trp)single nucleotide variantPathogenicrs55770810GRCh37Chr 17, 41215948: 41215948
1638BRCA1NM_007294.3(BRCA1): c.5102_5103delTG (p.Leu1701Glnfs)deletionPathogenicrs80357608GRCh37Chr 17, 41215940: 41215941
1639BRCA1NM_007294.3(BRCA1): c.5106delA (p.Lys1702Asnfs)deletionPathogenicrs80357553GRCh37Chr 17, 41215937: 41215937
1640BRCA1NM_007294.3(BRCA1): c.5109T> G (p.Tyr1703Ter)single nucleotide variantPathogenicrs80356974GRCh37Chr 17, 41215934: 41215934
1641BRCA1NM_007294.3(BRCA1): c.5123C> A (p.Ala1708Glu)single nucleotide variantPathogenicrs28897696GRCh37Chr 17, 41215920: 41215920
1642BRCA1NM_007294.3(BRCA1): c.5126delG (p.Gly1709Glufs)deletionPathogenicrs80357874GRCh37Chr 17, 41215917: 41215917
1643BRCA1NM_007294.3(BRCA1): c.5136G> A (p.Trp1712Ter)single nucleotide variantPathogenicrs80357418GRCh37Chr 17, 41215907: 41215907
1644BRCA1NM_007294.3(BRCA1): c.5137delG (p.Val1713Terfs)deletionPathogenicrs80357997GRCh37Chr 17, 41215906: 41215906
1645BRCA1NM_007294.3(BRCA1): c.5143A> T (p.Ser1715Cys)single nucleotide variantLikely pathogenicrs80357222GRCh37Chr 17, 41215900: 41215900
1646BRCA1NM_007294.3(BRCA1): c.514C> T (p.Gln172Ter)single nucleotide variantPathogenicrs80356947GRCh37Chr 17, 41251825: 41251825
1647BRCA1NM_007294.3(BRCA1): c.514delC (p.Gln172Asnfs)deletionPathogenicrs80357872GRCh37Chr 17, 41251825: 41251825
1648BRCA1NM_007294.3(BRCA1): c.5150delT (p.Phe1717Serfs)deletionPathogenicrs80357720GRCh37Chr 17, 41215893: 41215893
1649BRCA1NM_007294.3(BRCA1): c.5152+1G> Tsingle nucleotide variantPathogenicrs80358094GRCh37Chr 17, 41215890: 41215890
1650BRCA1NM_007294.3(BRCA1): c.5152+2dupTduplicationLikely pathogenicrs397509231GRCh37Chr 17, 41215888: 41215889
1651BRCA1NM_007294.3(BRCA1): c.5152+3A> Csingle nucleotide variantPathogenicrs80358124GRCh37Chr 17, 41215888: 41215888
1652BRCA1NM_007294.3(BRCA1): c.5152+5G> Asingle nucleotide variantLikely pathogenicrs80358165GRCh37Chr 17, 41215886: 41215886
1653BRCA1NM_007294.3(BRCA1): c.5153-1G> Asingle nucleotide variantPathogenicrs80358137GRCh37Chr 17, 41215391: 41215391
1654BRCA1NM_007294.3(BRCA1): c.5153-2delAdeletionPathogenicrs273901746GRCh37Chr 17, 41215392: 41215392
1655BRCA1NM_007294.3(BRCA1): c.5153G> A (p.Trp1718Ter)single nucleotide variantPathogenicrs41293461GRCh37Chr 17, 41215390: 41215390
1656BRCA1NM_007294.3(BRCA1): c.5154G> A (p.Trp1718Ter)single nucleotide variantPathogenicrs80357239GRCh37Chr 17, 41215389: 41215389
1657BRCA1NM_007294.3(BRCA1): c.5154G> T (p.Trp1718Cys)single nucleotide variantLikely pathogenicrs80357239GRCh37Chr 17, 41215389: 41215389
1658BRCA1NM_007294.3(BRCA1): c.5155delG (p.Val1719Terfs)deletionPathogenicrs80357743GRCh37Chr 17, 41215388: 41215388
1659BRCA1NM_007294.3(BRCA1): c.5156_5157delTG (p.Val1719Aspfs)deletionPathogenicrs80357895GRCh37Chr 17, 41215386: 41215387
1660BRCA1NM_007294.3(BRCA1): c.5165C> T (p.Ser1722Phe)single nucleotide variantPathogenicrs80357104GRCh37Chr 17, 41215378: 41215378
1661BRCA1NM_007294.3(BRCA1): c.5173G> T (p.Glu1725Ter)single nucleotide variantPathogenicrs80357291GRCh37Chr 17, 41215370: 41215370
1662BRCA1NM_007294.3(BRCA1): c.5177_5178delGA (p.Arg1726Lysfs)deletionPathogenicrs80357730GRCh37Chr 17, 41215365: 41215366
1663BRCA1NM_007294.3(BRCA1): c.5193+2delTdeletionPathogenicrs273901751GRCh37Chr 17, 41215348: 41215348
1664BRCA1NM_007294.3(BRCA1): c.5209A> T (p.Arg1737Ter)single nucleotide variantPathogenicrs80357496GRCh37Chr 17, 41209137: 41209137
1665BRCA1NM_007294.3(BRCA1): c.5209_5248del40insTC (p.Arg1737Serfs)indelPathogenicrs273901753GRCh37Chr 17, 41209098: 41209137
1666BRCA1NM_007294.3(BRCA1): c.520delC (p.Gln174Lysfs)deletionPathogenicrs80357639GRCh37Chr 17, 41251819: 41251819
1667BRCA1NM_007294.3(BRCA1): c.5213G> A (p.Gly1738Glu)single nucleotide variantLikely pathogenicrs80357450GRCh37Chr 17, 41209133: 41209133
1668BRCA1NM_007294.3(BRCA1): c.5229_5230delAA (p.Arg1744Lysfs)deletionPathogenicrs80357852GRCh37Chr 17, 41209116: 41209117
1669BRCA1NM_007294.3(BRCA1): c.5239C> T (p.Gln1747Ter)single nucleotide variantPathogenicrs80357367GRCh37Chr 17, 41209107: 41209107
1670BRCA1NM_007294.3(BRCA1): c.5243delG (p.Gly1748Valfs)deletionPathogenicrs80357676GRCh37Chr 17, 41209103: 41209103
1671BRCA1NM_007294.3(BRCA1): c.5251C> T (p.Arg1751Ter)single nucleotide variantPathogenicrs80357123GRCh37Chr 17, 41209095: 41209095
1672BRCA1NM_007294.3(BRCA1): c.5260G> T (p.Glu1754Ter)single nucleotide variantPathogenicrs80357432GRCh37Chr 17, 41209086: 41209086
1673BRCA1NM_007294.3(BRCA1): c.5274delA (p.Lys1759Argfs)deletionPathogenicrs80357732GRCh37Chr 17, 41209072: 41209072
1674BRCA1NM_007294.3(BRCA1): c.5277G> A (p.Lys1759=)single nucleotide variantPathogenicrs80356854GRCh37Chr 17, 41209069: 41209069
1675BRCA1NM_007294.3(BRCA1): c.5278-1G> Asingle nucleotide variantPathogenicrs80358099GRCh37Chr 17, 41203135: 41203135
1676BRCA1NM_007294.3(BRCA1): c.5278-1G> Csingle nucleotide variantPathogenicrs80358099GRCh37Chr 17, 41203135: 41203135
1677BRCA1NM_007294.3(BRCA1): c.5278-1G> Tsingle nucleotide variantPathogenicrs80358099GRCh37Chr 17, 41203135: 41203135
1678BRCA1NM_007294.3(BRCA1): c.5284delA (p.Arg1762Glyfs)deletionPathogenicrs80357684GRCh37Chr 17, 41203128: 41203128
1679BRCA1NM_007294.3(BRCA1): c.529delT (p.Ser177Leufs)deletionPathogenicrs80357758GRCh37Chr 17, 41251810: 41251810
1680BRCA1NM_007294.3(BRCA1): c.5319dupC (p.Asn1774Glnfs)duplicationPathogenicrs80357823GRCh37Chr 17, 41203092: 41203093
1681BRCA1NM_007294.3(BRCA1): c.5320_5321delAA (p.Asn1774Hisfs)deletionPathogenicrs80357818GRCh37Chr 17, 41203091: 41203092
1682BRCA1NM_007294.3(BRCA1): c.5328dupC (p.Thr1777Hisfs)duplicationPathogenicrs80357751GRCh37Chr 17, 41203083: 41203084
1683BRCA1NM_007294.3(BRCA1): c.5332+1G> Asingle nucleotide variantPathogenicrs80358041GRCh37Chr 17, 41203079: 41203079
1684BRCA1NM_007294.3(BRCA1): c.5333-1G> Csingle nucleotide variantPathogenicrs80358126GRCh37Chr 17, 41201212: 41201212
1685BRCA1NM_007294.3(BRCA1): c.5333-2A> Tsingle nucleotide variantLikely pathogenicrs397509264GRCh37Chr 17, 41201213: 41201213
1686BRCA1NM_007294.3(BRCA1): c.5341G> T (p.Glu1781Ter)single nucleotide variantPathogenicrs397509268GRCh37Chr 17, 41201203: 41201203
1687BRCA1NM_007294.3(BRCA1): c.5341delG (p.Glu1781Asnfs)deletionPathogenicrs80357694GRCh37Chr 17, 41201203: 41201203
1688BRCA1NM_007294.3(BRCA1): c.5345G> A (p.Trp1782Ter)single nucleotide variantPathogenicrs80357219GRCh37Chr 17, 41201199: 41201199
1689BRCA1NM_007294.3(BRCA1): c.5353C> T (p.Gln1785Ter)single nucleotide variantPathogenicrs80356969GRCh37Chr 17, 41201191: 41201191
1690BRCA1NM_007294.3(BRCA1): c.5359T> A (p.Cys1787Ser)single nucleotide variantPathogenicrs80357065GRCh37Chr 17, 41201185: 41201185
1691BRCA1NM_007294.3(BRCA1): c.5363G> A (p.Gly1788Asp)single nucleotide variantPathogenicrs80357069GRCh37Chr 17, 41201181: 41201181
1692BRCA1NM_007294.3(BRCA1): c.5406+5G> Asingle nucleotide variantPathogenicrs80358073GRCh37Chr 17, 41201133: 41201133
1693BRCA1NM_007294.3(BRCA1): c.5407-2A> Gsingle nucleotide variantPathogenicrs80358002GRCh37Chr 17, 41199722: 41199722
1694BRCA1NM_007294.3(BRCA1): c.5440delG (p.Ala1814Profs)deletionPathogenicrs80357946GRCh37Chr 17, 41199687: 41199687
1695BRCA1NM_007294.3(BRCA1): c.5444G> A (p.Trp1815Ter)single nucleotide variantPathogenicrs80356962GRCh37Chr 17, 41199683: 41199683
1696BRCA1NM_007294.3(BRCA1): c.5445G> A (p.Trp1815Ter)single nucleotide variantPathogenicrs397509284GRCh37Chr 17, 41199682: 41199682
1697BRCA1NM_007294.3(BRCA1): c.5449G> T (p.Glu1817Ter)single nucleotide variantPathogenicrs80356868GRCh37Chr 17, 41199678: 41199678
1698BRCA1NM_007294.3(BRCA1): c.547+1G> Tsingle nucleotide variantPathogenicrs80358030GRCh37Chr 17, 41251791: 41251791
1699BRCA1NM_007294.3(BRCA1): c.5470_5477delATTGGGCA (p.Ile1824Aspfs)deletionPathogenicrs80357973GRCh37Chr 17, 41197810: 41197817
1700BRCA1NM_007294.3(BRCA1): c.5492delC (p.Pro1831Leufs)deletionPathogenicrs80357582GRCh37Chr 17, 41197795: 41197795
1701BRCA1NM_007294.3(BRCA1): c.5496_5506delGGTGACCCGAGinsA (p.Val1833Serfs)indelPathogenicrs273902775GRCh37Chr 17, 41197781: 41197791
1702BRCA1NM_007294.3(BRCA1): c.5497G> A (p.Val1833Met)single nucleotide variantLikely pathogenic, Pathogenicrs80357268GRCh37Chr 17, 41197790: 41197790
1703BRCA1NM_007294.3(BRCA1): c.5503C> T (p.Arg1835Ter)single nucleotide variantPathogenicrs41293465GRCh37Chr 17, 41197784: 41197784
1704BRCA1NM_007294.3(BRCA1): c.5503_5564del62 (p.Arg1835Thrfs)deletionPathogenicrs80359883GRCh37Chr 17, 41197723: 41197784
1705BRCA1NM_007294.3(BRCA1): c.5506G> T (p.Glu1836Ter)single nucleotide variantPathogenicrs80356942GRCh37Chr 17, 41197781: 41197781
1706BRCA1NM_007294.3(BRCA1): c.5510G> A (p.Trp1837Ter)single nucleotide variantPathogenicrs80357307GRCh37Chr 17, 41197777: 41197777
1707BRCA1NM_007294.3(BRCA1): c.5511G> A (p.Trp1837Ter)single nucleotide variantPathogenicrs80356914GRCh37Chr 17, 41197776: 41197776
1708BRCA1NM_007294.3(BRCA1): c.5521delA (p.Ser1841Valfs)deletionPathogenicrs80357721GRCh37Chr 17, 41197766: 41197766
1709BRCA1NM_007294.3(BRCA1): c.5535C> A (p.Tyr1845Ter)single nucleotide variantPathogenicrs80356977GRCh37Chr 17, 41197752: 41197752
1710BRCA1NM_007294.3(BRCA1): c.5536C> T (p.Gln1846Ter)single nucleotide variantPathogenicrs80356873GRCh37Chr 17, 41197751: 41197751
1711BRCA1NM_007294.3(BRCA1): c.5541C> A (p.Cys1847Ter)single nucleotide variantPathogenicrs397509295GRCh37Chr 17, 41197746: 41197746
1712BRCA1NM_007294.3(BRCA1): c.5558dupA (p.Tyr1853Terfs)duplicationPathogenicrs80357629GRCh37Chr 17, 41197728: 41197729
1713BRCA1NM_007294.3(BRCA1): c.5559C> A (p.Tyr1853Ter)single nucleotide variantPathogenicrs80357336GRCh37Chr 17, 41197728: 41197728
1714BRCA1NM_007294.3(BRCA1): c.64delT (p.Leu22Terfs)deletionPathogenicrs80357803GRCh37Chr 17, 41276050: 41276050
1715BRCA1NM_007294.3(BRCA1): c.668delA (p.Lys223Argfs)deletionPathogenicrs80357745GRCh37Chr 17, 41247865: 41247865
1716BRCA1NM_007294.3(BRCA1): c.671-2A> Csingle nucleotide variantPathogenicrs80358108GRCh37Chr 17, 41246879: 41246879
1717BRCA1NM_007294.3(BRCA1): c.685delT (p.Ser229Leufs)deletionPathogenicrs80357824GRCh37Chr 17, 41246863: 41246863
1718BRCA1NM_007294.3(BRCA1): c.70_80delTGTCCCATCTG (p.Cys24Serfs)deletionPathogenicrs80359877GRCh37Chr 17, 41276034: 41276044
1719BRCA1NM_007294.3(BRCA1): c.731delA (p.Asn244Metfs)deletionPathogenicrs80357700GRCh37Chr 17, 41246817: 41246817
1720BRCA1NM_007294.3(BRCA1): c.73_74delCC (p.Pro25Hisfs)deletionPathogenicrs80357633GRCh37Chr 17, 41276040: 41276041
1721BRCA1NM_007294.3(BRCA1): c.763G> T (p.Glu255Ter)single nucleotide variantPathogenicrs80357009GRCh37Chr 17, 41246785: 41246785
1722BRCA1NM_007294.3(BRCA1): c.775delG (p.Glu259Lysfs)deletionPathogenicrs80357628GRCh37Chr 17, 41246773: 41246773
1723BRCA1NM_007294.3(BRCA1): c.791_794delGTTC (p.Ser264Metfs)deletionPathogenicrs80357707GRCh37Chr 17, 41246754: 41246757
1724BRCA1NM_007294.3(BRCA1): c.794_795delCT (p.Ser265Cysfs)deletionPathogenicrs80357955GRCh37Chr 17, 41246753: 41246754
1725BRCA1NM_007294.3(BRCA1): c.80+1G> Asingle nucleotide variantPathogenicrs80358010GRCh37Chr 17, 41276033: 41276033
1726BRCA1NM_007294.3(BRCA1): c.800C> G (p.Ser267Ter)single nucleotide variantPathogenicrs80357392GRCh37Chr 17, 41246748: 41246748
1727BRCA1NM_007294.3(BRCA1): c.809delA (p.His270Leufs)deletionPathogenicrs80357965GRCh37Chr 17, 41246739: 41246739
1728BRCA1NM_007294.3(BRCA1): c.81-2delAdeletionPathogenicrs273902791GRCh37Chr 17, 41267798: 41267798
1729BRCA1NM_007294.3(BRCA1): c.815_824dupAGCCATGTGG (p.Thr276Alafs)duplicationPathogenicrs387906563GRCh37Chr 17, 41246724: 41246733
1730BRCA1NM_007294.3(BRCA1): c.822T> A (p.Cys274Ter)single nucleotide variantPathogenicrs80357331GRCh37Chr 17, 41246726: 41246726
1731BRCA1NM_007294.3(BRCA1): c.835delC (p.His279Metfs)deletionPathogenicrs80357523GRCh37Chr 17, 41246713: 41246713
1732BRCA1NM_007294.3(BRCA1): c.83_84delTG (p.Leu28Argfs)deletionPathogenicrs80357728GRCh37Chr 17, 41267793: 41267794
1733BRCA1NM_007294.3(BRCA1): c.844_850dupTCATTAC (p.Gln284Leufs)duplicationPathogenicrs80357989GRCh37Chr 17, 41246698: 41246704
1734BRCA1NM_007294.3(BRCA1): c.848T> A (p.Leu283Ter)single nucleotide variantPathogenicrs273902792GRCh37Chr 17, 41246700: 41246700
1735BRCA1NM_007294.3(BRCA1): c.851_852delAG (p.Gln284Profs)deletionPathogenicrs80357719GRCh37Chr 17, 41246696: 41246697
1736BRCA1NM_007294.3(BRCA1): c.895_896delGT (p.Val299Argfs)deletionPathogenicrs80357670GRCh37Chr 17, 41246652: 41246653
1737BRCA1NM_007294.3(BRCA1): c.904delG (p.Ala302Leufs)deletionPathogenicrs273903793GRCh37Chr 17, 41246644: 41246644
1738BRCA1NM_007294.3(BRCA1): c.911delT (p.Phe304Serfs)deletionPathogenicrs80357622GRCh37Chr 17, 41246637: 41246637
1739BRCA1NM_007294.3(BRCA1): c.922_923delAG (p.Ser308Glnfs)deletionPathogenicrs80357644GRCh37Chr 17, 41246625: 41246626
1740BRCA1NM_007294.3(BRCA1): c.922_924delAGCinsT (p.Ser308Terfs)indelPathogenicrs397509335GRCh37Chr 17, 41246624: 41246626
1741BRCA1NM_007294.3(BRCA1): c.923delG (p.Ser308Thrfs)deletionPathogenicrs80357953GRCh37Chr 17, 41246625: 41246625
1742BRCA1NM_007294.3(BRCA1): c.930delG (p.Gln310Hisfs)deletionPathogenicrs80357689GRCh37Chr 17, 41246618: 41246618
1743BRCA1NM_007294.3(BRCA1): c.949C> T (p.Gln317Ter)single nucleotide variantPathogenicrs80357211GRCh37Chr 17, 41246599: 41246599
1744BRCA1NM_007294.3(BRCA1): c.949_953delCAACA (p.Gln317Terfs)deletionPathogenicrs80357555GRCh37Chr 17, 41246595: 41246599
1745BRCA1NM_007294.3(BRCA1): c.959_960delGA (p.Arg320Metfs)deletionPathogenicrs397509339GRCh37Chr 17, 41246588: 41246589
1746BRCA1NM_007294.3(BRCA1): c.964delG (p.Ala322Leufs)deletionPathogenicrs273903794GRCh37Chr 17, 41246584: 41246584
1747BRCA1NM_007294.3(BRCA1): c.980_981delCA (p.Thr327Metfs)deletionPathogenicrs80357610GRCh37Chr 17, 41246567: 41246568
1748BRCA1NM_007294.3(BRCA1): c.981_982delAT (p.Cys328Terfs)deletionPathogenicrs80357772GRCh37Chr 17, 41246566: 41246567
1749BRCA2NM_000059.3(BRCA2): c.1321dupA (p.Thr441Asnfs)duplicationPathogenicrs80359281GRCh37Chr 13, 32906936: 32906937
1750BRCA2NM_000059.3(BRCA2): c.2834_2835delAA (p.Lys945Argfs)deletionPathogenicrs80359356GRCh37Chr 13, 32911326: 32911327
1751BRCA2NM_000059.3(BRCA2): c.5961G> T (p.Gln1987His)single nucleotide variantLikely pathogenicrs387907575GRCh37Chr 13, 32914453: 32914453
1752RAD51CRAD51C, IVS5DS, G-T, +5single nucleotide variantrisk factor
1753RAD51CNM_058216.2(RAD51C): c.374G> T (p.Gly125Val)single nucleotide variantrisk factorrs267606998GRCh37Chr 17, 56772520: 56772520
1754RAD51CNM_058216.2(RAD51C): c.414G> C (p.Leu138Phe)single nucleotide variantLikely pathogenic, risk factorrs267606999GRCh37Chr 17, 56774063: 56774063
1755NBNNM_002485.4(NBN): c.657_661delACAAA (p.Lys219Asnfs)deletionPathogenic, risk factorGRCh37Chr 8, 90983442: 90983446
1756BRCA2NM_000059.3(BRCA2): c.5195delT (p.Leu1732Profs)deletionPathogenicGRCh37Chr 13, 32913687: 32913687
1757BRCA2NM_000059.3(BRCA2): c.5343_5344insA (p.Gln1782Thrfs)insertionPathogenicrs398122530GRCh37Chr 13, 32913835: 32913836
1758BRCA2NM_000059.3(BRCA2): c.5352delC (p.Asn1784Lysfs)deletionPathogenicrs398122531GRCh37Chr 13, 32913844: 32913844
1759BRCA2NM_000059.3(BRCA2): c.5584_5587delGTGA (p.Val1862Lysfs)deletionPathogenicrs398122535GRCh37Chr 13, 32914076: 32914079
1760BRCA2NM_000059.3(BRCA2): c.5692delG (p.Asp1898Metfs)deletionPathogenicrs398122539GRCh37Chr 13, 32914184: 32914184
1761BRCA2NM_000059.3(BRCA2): c.5842delT (p.Cys1948Valfs)deletionPathogenicrs398122541GRCh37Chr 13, 32914334: 32914334
1762BRCA2NM_000059.3(BRCA2): c.6019_6020insTA (p.Thr2007Ilefs)insertionPathogenicrs398122545GRCh37Chr 13, 32914511: 32914512
1763BRCA2NM_000059.3(BRCA2): c.6059_6062delAACA (p.Glu2020Valfs)deletionPathogenicrs398122546GRCh37Chr 13, 32914551: 32914554
1764BRCA2NM_000059.3(BRCA2): c.635_636delGA (p.Arg212Lysfs)deletionPathogenicrs398122553GRCh37Chr 13, 32903583: 32903584
1765BRCA2NM_000059.3(BRCA2): c.6392_6396delAATTA (p.Lys2131Ilefs)deletionPathogenicrs398122555GRCh37Chr 13, 32914884: 32914888
1766BRCA2NM_000059.3(BRCA2): c.6405_6408delCTTA (p.Asn2135Lysfs)deletionPathogenicrs398122556GRCh37Chr 13, 32914897: 32914900
1767BRCA2NM_000059.3(BRCA2): c.6444delT (p.Ile2149Leufs)deletionPathogenicrs398122557GRCh37Chr 13, 32914936: 32914936
1768BRCA2NM_000059.3(BRCA2): c.6487C> T (p.Gln2163Ter)single nucleotide variantPathogenicrs398122559GRCh37Chr 13, 32914979: 32914979
1769BRCA2NM_000059.3(BRCA2): c.6586A> T (p.Lys2196Ter)single nucleotide variantPathogenicrs398122561GRCh37Chr 13, 32915078: 32915078
1770BRCA2NM_000059.3(BRCA2): c.6627_6628insTA (p.Glu2210Terfs)insertionPathogenicrs398122562GRCh37Chr 13, 32915119: 32915120
1771BRCA2NM_000059.3(BRCA2): c.681+1G> Asingle nucleotide variantLikely pathogenicrs398122565GRCh37Chr 13, 32903630: 32903630
1772BRCA2NM_000059.3(BRCA2): c.6859_6863delAGAAA (p.Arg2287Leufs)deletionPathogenicrs398122568GRCh37Chr 13, 32918712: 32918716
1773BRCA2NM_000059.3(BRCA2): c.6946_6949delAAAG (p.Lys2316Ilefs)deletionPathogenicrs398122571GRCh37Chr 13, 32920972: 32920975
1774BRCA2NM_000059.3: c.6996_7004delTGTACCCTTins20indelPathogenicGRCh37Chr 13, 32921022: 32921030
1775BRCA2NM_000059.3(BRCA2): c.7142delC (p.Pro2381Hisfs)deletionPathogenicrs398122576GRCh37Chr 13, 32929132: 32929132
1776BRCA2NM_000059.3(BRCA2): c.7525dupA (p.Ser2509Lysfs)duplicationPathogenicrs80359656GRCh37Chr 13, 32930654: 32930655
1777BRCA2NM_000059.3(BRCA2): c.7556dupC (p.Arg2520Serfs)duplicationPathogenicrs80359660GRCh37Chr 13, 32930685: 32930686
1778BRCA2NM_000059.3(BRCA2): c.7890_7891insAA (p.Leu2631Asnfs)insertionPathogenicrs398122593GRCh37Chr 13, 32936744: 32936745
1779BRCA2NM_000059.3(BRCA2): c.8200_8209delCCTCCCCTCT (p.Pro2734Terfs)deletionPathogenicrs398122599GRCh37Chr 13, 32937539: 32937548
1780BRCA2NM_000059.3(BRCA2): c.8308delG (p.Ala2770Profs)deletionPathogenicrs398122601GRCh37Chr 13, 32937647: 32937647
1781BRCA2NM_000059.3(BRCA2): c.8331+2T> Asingle nucleotide variantPathogenicrs398122602GRCh37Chr 13, 32937672: 32937672
1782BRCA2NM_000059.3(BRCA2): c.8374delC (p.Gly2793Aspfs)deletionPathogenicrs398122605GRCh37Chr 13, 32944581: 32944581
1783BRCA2NM_000059.3: c.8400_8402delTTTins4indelPathogenicGRCh37Chr 13, 32944607: 32944609
1784BRCA2NM_000059.3(BRCA2): c.9060delT (p.Glu3021Lysfs)deletionPathogenicrs398122609GRCh37Chr 13, 32953993: 32953993
1785BRCA2NM_000059.3(BRCA2): c.9252_9255delAACAinsTT (p.Lys3084Asnfs)indelPathogenicrs276174918GRCh37Chr 13, 32954278: 32954281
1786BRCA2NM_000059.3(BRCA2): c.9376delC (p.Gln3126Serfs)deletionPathogenicrs398122612GRCh37Chr 13, 32968945: 32968945
1787BRCA2NM_000059.3(BRCA2): c.9573G> A (p.Trp3191Ter)single nucleotide variantPathogenicrs398122617GRCh37Chr 13, 32971106: 32971106
1788BRCA2NM_000059.3(BRCA2): c.9682delA (p.Ser3228Valfs)deletionPathogenicrs398122618GRCh37Chr 13, 32972332: 32972332
1789BRCA2NM_000059.3(BRCA2): c.9808delG (p.Ala3270Profs)deletionPathogenicrs398122622GRCh37Chr 13, 32972458: 32972458
1790BRCA2NM_000059.3(BRCA2): c.9824delG (p.Ser3275Ilefs)deletionPathogenicrs398122623GRCh37Chr 13, 32972474: 32972474
1791BRCA1NM_007294.3(BRCA1): c.1086_1141del56 (p.Asn363Serfs)deletionPathogenicrs80359875GRCh37Chr 17, 41246407: 41246462
1792BRCA1NM_007294.3(BRCA1): c.1093A> T (p.Arg365Ter)single nucleotide variantPathogenicrs398122627GRCh37Chr 17, 41246455: 41246455
1793BRCA1NM_007294.3(BRCA1): c.1292delT (p.Leu431Tyrfs)deletionPathogenicrs398122629GRCh37Chr 17, 41246256: 41246256
1794BRCA1NM_007294.3(BRCA1): c.1326_1327insGT (p.Lys443Valfs)insertionPathogenicrs80357543GRCh37Chr 17, 41246221: 41246222
1795BRCA1NM_007294.3(BRCA1): c.1327A> T (p.Lys443Ter)single nucleotide variantPathogenicrs398122630GRCh37Chr 17, 41246221: 41246221
1796BRCA1NM_007294.3(BRCA1): c.1336dupA (p.Arg446Lysfs)duplicationPathogenicrs398122631GRCh37Chr 17, 41246211: 41246212
1797BRCA1NM_007294.3(BRCA1): c.134+2T> Csingle nucleotide variantPathogenicrs80358131GRCh37Chr 17, 41267741: 41267741
1798BRCA1NM_007294.3(BRCA1): c.134+5G> Asingle nucleotide variantLikely pathogenicrs80358038GRCh37Chr 17, 41267738: 41267738
1799BRCA1NM_007294.3(BRCA1): c.1361delG (p.Ser454Ilefs)deletionPathogenicrs398122632GRCh37Chr 17, 41246187: 41246187
1800BRCA1NM_007294.3(BRCA1): c.1377_1378delAA (p.Lys459Asnfs)deletionPathogenicrs398122633GRCh37Chr 17, 41246170: 41246171
1801BRCA1NM_007294.3(BRCA1): c.141C> A (p.Cys47Ter)single nucleotide variantPathogenicrs398122635GRCh37Chr 17, 41258544: 41258544
1802BRCA1NM_007294.3(BRCA1): c.1512dupT (p.Lys505Terfs)duplicationPathogenicrs398122636GRCh37Chr 17, 41246035: 41246036
1803BRCA1NM_007294.3(BRCA1): c.1628delG (p.Gly543Valfs)deletionPathogenicrs398122640GRCh37Chr 17, 41245920: 41245920
1804BRCA1NM_007294.3(BRCA1): c.1744delA (p.Thr582Argfs)deletionPathogenicrs398122641GRCh37Chr 17, 41245804: 41245804
1805BRCA1NM_007294.3(BRCA1): c.1759delA (p.Ile587Terfs)deletionPathogenicrs398122642GRCh37Chr 17, 41245789: 41245789
1806BRCA1NM_007294.3(BRCA1): c.1875delA (p.Val626Terfs)deletionPathogenicrs398122646GRCh37Chr 17, 41245673: 41245673
1807BRCA1NM_007294.3(BRCA1): c.18_19insG (p.Arg7Alafs)insertionPathogenicrs398122648GRCh37Chr 17, 41276095: 41276096
1808BRCA1NM_007294.3(BRCA1): c.1921delA (p.Ile641Leufs)deletionPathogenicrs398122650GRCh37Chr 17, 41245627: 41245627
1809BRCA1NM_007294.3(BRCA1): c.203_204delTA (p.Ile68Asnfs)deletionPathogenicrs398122651GRCh37Chr 17, 41258481: 41258482
1810BRCA1NM_007294.3(BRCA1): c.2070_2071delAA (p.Arg691Thrfs)deletionPathogenicrs273898676GRCh37Chr 17, 41245477: 41245478
1811BRCA1NM_007294.3(BRCA1): c.2131_2132delAA (p.Lys711Valfs)deletionPathogenicrs398122653GRCh37Chr 17, 41245416: 41245417
1812BRCA1NM_007294.3(BRCA1): c.2199delG (p.Lys734Asnfs)deletionPathogenicrs80357944GRCh37Chr 17, 41245349: 41245349
1813BRCA1NM_007294.3(BRCA1): c.2246_2247insGA (p.Asp749Glufs)insertionPathogenicrs398122654GRCh37Chr 17, 41245301: 41245302
1814BRCA1NM_007294.3(BRCA1): c.2386dupA (p.Thr796Asnfs)duplicationPathogenicrs398122657GRCh37Chr 17, 41245161: 41245162
1815BRCA1NM_007294.3(BRCA1): c.241_251delCAACTTGTTGA (p.Gln81Argfs)deletionPathogenicrs398122659GRCh37Chr 17, 41256935: 41256945
1816BRCA1NM_007294.3: c.2504_2505ins17insertionPathogenicrs483353078GRCh37Chr 17, 41245043: 41245044
1817BRCA1NM_007294.3(BRCA1): c.250G> T (p.Glu84Ter)single nucleotide variantPathogenicrs398122661GRCh37Chr 17, 41256936: 41256936
1818BRCA1NM_007294.3(BRCA1): c.2654delT (p.Phe885Serfs)deletionPathogenicrs398122663GRCh37Chr 17, 41244894: 41244894
1819BRCA1NM_007294.3(BRCA1): c.2686dupA (p.Ser896Lysfs)duplicationPathogenicrs398122664GRCh37Chr 17, 41244861: 41244862
1820BRCA1NM_007294.3(BRCA1): c.2748delT (p.Asn916Lysfs)deletionPathogenicrs398122667GRCh37Chr 17, 41244800: 41244800
1821BRCA1NM_007294.3(BRCA1): c.2774delT (p.Ile925Thrfs)deletionPathogenicrs398122669GRCh37Chr 17, 41244774: 41244774
1822BRCA1NM_007294.3(BRCA1): c.2902_2903insTC (p.Pro968Leufs)insertionPathogenicrs398122670GRCh37Chr 17, 41244645: 41244646
1823BRCA1NM_007294.3(BRCA1): c.2940delA (p.Pro981Hisfs)deletionPathogenicrs80357876GRCh37Chr 17, 41244608: 41244608
1824BRCA1NM_007294.3(BRCA1): c.3204delT (p.Gln1069Lysfs)deletionPathogenicrs398122673GRCh37Chr 17, 41244344: 41244344
1825BRCA1NM_007294.3(BRCA1): c.3599_3600delAG (p.Gln1200Argfs)deletionPathogenicrs398122674GRCh37Chr 17, 41243948: 41243949
1826BRCA1NM_007294.3(BRCA1): c.3672delC (p.Cys1225Alafs)deletionPathogenicrs398122677GRCh37Chr 17, 41243876: 41243876
1827BRCA1NM_007294.3(BRCA1): c.3761_3762insTT (p.Lys1254Asnfs)insertionPathogenicrs80357928GRCh37Chr 17, 41243786: 41243787
1828BRCA1NM_007294.3: c.3839_3843delCTCAGins4indelPathogenicrs273900717GRCh37Chr 17, 41243705: 41243709
1829BRCA1NM_007294.3(BRCA1): c.4054G> T (p.Glu1352Ter)single nucleotide variantPathogenicrs80357202GRCh37Chr 17, 41243494: 41243494
1830BRCA1NM_007294.3(BRCA1): c.4062_4065delTAAT (p.Asn1355Lysfs)deletionPathogenicrs398122679GRCh37Chr 17, 41243483: 41243486
1831BRCA1NM_007294.3(BRCA1): c.4094T> G (p.Leu1365Ter)single nucleotide variantPathogenicrs398122681GRCh37Chr 17, 41243454: 41243454
1832BRCA1NM_007294.3(BRCA1): c.4116_4117insTT (p.Glu1373Leufs)insertionPathogenicrs398122682GRCh37Chr 17, 41243029: 41243030
1833BRCA1NM_007294.3: c.4155_4156ins10insertionPathogenicrs483353079GRCh37Chr 17, 41242990: 41242991
1834BRCA1NM_007294.3(BRCA1): c.4354A> T (p.Lys1452Ter)single nucleotide variantPathogenicrs398122685GRCh37Chr 17, 41234424: 41234424
1835BRCA1NM_007294.3(BRCA1): c.4357+2T> Gsingle nucleotide variantPathogenicrs80358152GRCh37Chr 17, 41234419: 41234419
1836BRCA1NM_007294.3(BRCA1): c.4493delC (p.Pro1498Leufs)deletionPathogenicrs398122687GRCh37Chr 17, 41226530: 41226530
1837BRCA1NM_007294.3(BRCA1): c.5075-3C> Gsingle nucleotide variantLikely pathogenicrs398122690GRCh37Chr 17, 41215971: 41215971
1838BRCA1NM_007294.3(BRCA1): c.5186delT (p.Leu1729Argfs)deletionPathogenicrs398122692GRCh37Chr 17, 41215357: 41215357
1839BRCA1NM_007294.3(BRCA1): c.5193+1G> Tsingle nucleotide variantPathogenicrs80358004GRCh37Chr 17, 41215349: 41215349
1840BRCA1NM_007294.3(BRCA1): c.5277+1delGdeletionPathogenicrs273901754GRCh37Chr 17, 41209068: 41209068
1841BRCA1NM_007294.3(BRCA1): c.5468-2A> Gsingle nucleotide variantLikely pathogenicrs398122699GRCh38Chr 17, 43045804: 43045804
1842BRCA1NM_007294.3(BRCA1): c.670+1G> Tsingle nucleotide variantPathogenicrs398122706GRCh37Chr 17, 41247862: 41247862
1843BRCA1NM_007294.3(BRCA1): c.81-1G> Asingle nucleotide variantPathogenicrs80358018GRCh37Chr 17, 41267797: 41267797
1844BRCA1NM_007294.3(BRCA1): c.936delC (p.Leu313Terfs)deletionPathogenicrs398122709GRCh37Chr 17, 41246612: 41246612
1845BRCA2LRG_293p1: p.Asp3095Gluprotein onlyPathogenic
1846BRCA2LRG_293p1: p.Leu557Terprotein onlyPathogenic
1847BRCA2LRG_293p1: p.Met1Ileprotein onlyPathogenic
1848BRCA2LRG_293p1: p.Ser1630Terprotein onlyPathogenic
1849BRCA2LRG_293p1: p.Ser1760Terprotein onlyPathogenic
1850BRCA2LRG_293p1: p.Ser1882Terprotein onlyPathogenic
1851BRCA2LRG_293p1: p.Ser1955Terprotein onlyPathogenic
1852BRCA2LRG_293p1: p.Ser1970Terprotein onlyPathogenic
1853BRCA2LRG_293p1: p.Ser2984Terprotein onlyPathogenic
1854BRCA2LRG_293p1: p.Ser2994Terprotein onlyPathogenic
1855BRCA2LRG_293p1: p.Ser611Terprotein onlyPathogenic
1856BRCA2LRG_293p1: p.Ser780Terprotein onlyPathogenic
1857BRCA2LRG_293p1: p.Ser869Terprotein onlyPathogenic
1858BRCA2LRG_293p1: p.Trp2586Terprotein onlyPathogenic
1859BRCA2LRG_293p1: p.Trp3127Terprotein onlyPathogenic
1860BRCA2LRG_293p1: p.Trp993Terprotein onlyPathogenic
1861BRCA2LRG_293p1: p.Tyr1655Terprotein onlyPathogenic
1862BRCA2LRG_293p1: p.Tyr1894Terprotein onlyPathogenic
1863BRCA2LRG_293p1: p.Tyr3308Terprotein onlyPathogenic
1864BRCA2LRG_293p1: p.Tyr792Terprotein onlyPathogenic
1865BRCA1LRG_292p1: p.Ala521Terprotein onlyPathogenic
1866BRCA1LRG_292p1: p.Cys39Serprotein onlyPathogenic
1867