MCID: BRS071
MIFTS: 36

Breast-Ovarian Cancer, Familial, 1 malady

Categories: Genetic diseases, Cancer diseases, Reproductive diseases, Rare diseases

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

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

Name: Breast-Ovarian Cancer, Familial, 1 49 11 67
Ovarian Cancer Familial 1 67
 
Breast Cancer Familial 1 67
Brovca1 67

Characteristics:

HPO:

61
breast-ovarian cancer, familial, 1:
Inheritance: multifactorial inheritance, autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 604370

Summaries for Breast-Ovarian Cancer, Familial, 1

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UniProtKB/Swiss-Prot:67 Breast-ovarian cancer, familial, 1: A condition associated with familial predisposition to cancer of the breast and ovaries. Characteristic features in affected families are an early age of onset of breast cancer (often before age 50), increased chance of bilateral cancers (cancer that develop in both breasts, or both ovaries, independently), frequent occurrence of breast cancer among men, increased incidence of tumors of other specific organs, such as the prostate.

MalaCards based summary: Breast-Ovarian Cancer, Familial, 1, also known as ovarian cancer familial 1, is related to brca1 hereditary breast and ovarian cancer syndrome and peroxisome biogenesis disorder 5a, and has symptoms including breast carcinoma An important gene associated with Breast-Ovarian Cancer, Familial, 1 is BRCA1 (Breast Cancer 1), and among its related pathways are BARD1 signaling events and ATM Pathway. Affiliated tissues include breast, prostate and ovary, and related mouse phenotypes are embryo and tumorigenesis.

Description from OMIM:49 604370

Related Diseases for Breast-Ovarian Cancer, Familial, 1

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Diseases in the Hereditary Breast Ovarian Cancer family:

Breast-Ovarian Cancer, Familial, 2 Breast-Ovarian Cancer, Familial 4
breast-ovarian cancer, familial, 1 Breast-Ovarian Cancer, Familial 3
Rad51c-Related Familial Susceptibility to Breast-Ovarian Cancer Rad51d-Related Familial Susceptibility to Breast-Ovarian Cancer

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

(show all 45)
idRelated DiseaseScoreTop Affiliating Genes
1brca1 hereditary breast and ovarian cancer syndrome11.4
2peroxisome biogenesis disorder 5a10.0BRCA1, NBN
3congenital pulmonary veins atresia or stenosis9.9BRCA1, BRCA2
4bronchiolitis obliterans9.9BRCA1, BRCA2
5autoimmune polyendocrine syndrome type 19.9BRCA1, BRCA2
6autoimmune disease of urogenital tract9.9BRCA1, BRCA2
7malignant testicular leydig cell tumor9.9BRCA1, BRCA2
8breast cancer, childhood9.9BRCA1, BRCA2
9brca2 hereditary breast and ovarian cancer syndrome9.9BRCA1, BRCA2
10pancreatic serous cystadenocarcinoma9.9BRCA1, BRCA2
11mastitis9.9BRCA1, BRCA2
12vulvar alveolar soft part sarcoma9.9BRCA1, BRCA2
13cystadenoma9.9BRCA1, BRCA2
14partial of retinal vein occlusion9.9BRCA1, BRCA2
15setariasis9.9BRCA1, BRCA2
16endometrial mucinous adenocarcinoma9.9BRCA1, BRCA2
17internal auditory canal lipoma9.9BRCA1, BRCA2
18fallopian tube adenofibroma9.9BRCA1, BRCA2
19ovarian cancer, somatic9.9BRCA1, BRCA2
20synchronous bilateral breast carcinoma9.9BRCA1, BRCA2
21peritoneal cystic mesothelioma9.9BRCA1, BRCA2
22fallopian tube leiomyosarcoma9.9BRCA1, BRCA2
23lymphatic system cancer9.8BRCA1, BRCA2
24uterine carcinosarcoma9.8BRCA1, BRCA2
25mutiple parosteal osteochondromatous proliferations9.8BRCA1, BRCA2
26tetrasomy 219.8BRCA1, BRCA2
27eye carcinoma in situ9.8BRCA1, BRCA2
28vascular dementia9.8BRCA1, BRCA2
29ovary epithelial cancer9.8BRCA1, BRCA2
30ovarian wilms' cancer9.8BRCA1, BRCA2
31estrogen-receptor positive breast cancer9.8BRCA1, BRCA2
32periocular meningioma9.8BRCA1, BRCA2
33familial capillaro-venous leptomeningeal angiomatosis9.8BRCA1, BRCA2
34tracheal lymphoma9.7BRCA1, BRCA2
35cerebellar liponeurocytoma9.7BRCA1, BRCA2
36hypothalamic disease9.7BRCA1, BRCA2
37arthrogryposis, renal dysfunction, and cholestasis 19.7BRCA1, BRCA2
38choroid plexus papilloma9.6BRCA1, BRCA2
39short-rib thoracic dysplasia 3 with or without polydactyly9.6BRCA1, NBN
40pancreatic cancer 49.6BRCA1, BRCA2, NBN
41spondyloepimetaphyseal dysplasia, sponastrime type9.6BRCA1, BRCA2, NBN
42placental insufficiency9.6BRCA1, BRCA2, NBN
43cell type cancer9.6BRCA1, BRCA2
44mental retardation, autosomal recessive 459.6BRCA1, BRCA2, NBN
45prostate cancer9.3BRCA1, BRCA2, NBN

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

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

id Description Frequency HPO Source Accession
1 breast carcinoma HP:0003002

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

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Risk Education and Assessment for Cancer HeredityCompletedNCT01346761

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:

33
Breast, Prostate, Ovary

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

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MGI Mouse Phenotypes related to Breast-Ovarian Cancer, Familial, 1:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.8BRCA1, BRCA2, NBN
2MP:00020068.7BRCA1, BRCA2, NBN

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:

67
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:

5 (show all 1,097)
id Gene Variation Type Significance SNP ID Assembly Location
1BRCA1undetermined variantPathogenic
2BRCA1undetermined variantPathogenic
3BRCA1undetermined variantPathogenic
4BRCA1NM_007294.3(BRCA1): c.882delA (p.Asp295Thrfs)deletionPathogenicrs80357587GRCh38Chr 17, 43094649: 43094649
5BRCA1undetermined variantPathogenic
6BRCA1NM_007294.3(BRCA1): c.902_903insT (p.Lys301Asnfs)insertionPathogenicrs80357726GRCh38Chr 17, 43094628: 43094629
7BRCA1NM_007294.3(BRCA1): c.953_954insTG (p.Asn319Valfs)insertionPathogenicrs80357690GRCh37Chr 17, 41246594: 41246595
8BRCA1NM_007294.3(BRCA1): c.984_985insC (p.Asn329Glnfs)insertionPathogenicrs80357775GRCh37Chr 17, 41246563: 41246564
9BRCA1NM_007294.3(BRCA1): c.1101_1102insC (p.Glu368Argfs)insertionPathogenicrs80357665GRCh37Chr 17, 41246446: 41246447
10BRCA1NM_007294.3(BRCA1): c.1129dupA (p.Ser377Lysfs)duplicationPathogenicrs80357776GRCh37Chr 17, 41246419: 41246419
11BRCA1NM_007294.3(BRCA1): c.19_47del29 (p.Arg7Cysfs)deletionPathogenicrs80359871GRCh37Chr 17, 41276067: 41276095
12BRCA1NM_007294.3(BRCA1): c.1356delA (p.Glu453Argfs)deletionPathogenicrs80357939GRCh37Chr 17, 41246192: 41246192
13BRCA1U14680.1: n.1506AtoGinsGinsertionPathogenic
14BRCA1NM_007294.3(BRCA1): c.1392dupC (p.Tyr465Leufs)duplicationPathogenicrs80357592GRCh38Chr 17, 43094139: 43094139
15BRCA1NM_007294.3(BRCA1): c.1440_1441insA (p.Leu481Thrfs)insertionPathogenicrs80357778GRCh37Chr 17, 41246107: 41246108
16BRCA1NM_007294.3(BRCA1): c.1462dupA (p.Thr488Asnfs)duplicationPathogenicrs80357599GRCh37Chr 17, 41246086: 41246086
17BRCA1NM_007294.3(BRCA1): c.1518delG (p.Arg507Aspfs)deletionPathogenicrs80357947GRCh38Chr 17, 43094013: 43094013
18BRCA1NM_007294.3(BRCA1): c.1561_1562delGCinsTA (p.Ala521Ter)indelPathogenicrs273897663GRCh38Chr 17, 43093969: 43093970
19BRCA1NM_007294.3(BRCA1): c.1637_1685del49ins5indelPathogenicrs483353085GRCh37Chr 17, 41245863: 41245911
20BRCA1NM_007294.3(BRCA1): c.1695dupG (p.Lys566Glufs)duplicationPathogenicrs273897664GRCh37Chr 17, 41245853: 41245853
21BRCA1NM_007294.3(BRCA1): c.1700dupA (p.Asn567Lysfs)duplicationPathogenicrs80357784GRCh38Chr 17, 43093831: 43093831
22BRCA1NM_007294.3(BRCA1): c.65_66insTT (p.Leu22Phefs)insertionPathogenicrs80357642GRCh38Chr 17, 43124031: 43124032
23BRCA1NM_007294.3(BRCA1): c.70_71insA (p.Cys24Terfs)insertionPathogenicrs80357536GRCh38Chr 17, 43124026: 43124027
24BRCA1NM_007294.3(BRCA1): c.70_71insTGTC (p.Cys24Leufs)insertionPathogenicrs80357536GRCh37Chr 17, 41276043: 41276044
25BRCA1NM_007294.3(BRCA1): c.1812delA (p.Ala605Hisfs)deletionPathogenicrs80357927GRCh38Chr 17, 43093719: 43093719
26BRCA1NM_007294.3(BRCA1): c.80+1G> Csingle nucleotide variantPathogenicrs80358010GRCh38Chr 17, 43124016: 43124016
27BRCA1NM_007294.3(BRCA1): c.80+1G> Tsingle nucleotide variantPathogenicrs80358010GRCh37Chr 17, 41276033: 41276033
28BRCA1NM_007294.3(BRCA1): c.80+2T> Gsingle nucleotide variantPathogenicrs80358128GRCh38Chr 17, 43124015: 43124015
29BRCA1NM_007294.3(BRCA1): c.1893_1894insT (p.Ser632Terfs)insertionPathogenicrs80357768GRCh38Chr 17, 43093637: 43093638
30BRCA1NM_007294.3(BRCA1): c.2038_2039insCC (p.Lys680Thrfs)insertionPathogenicrs80357940GRCh38Chr 17, 43093492: 43093493
31BRCA1NM_007294.3(BRCA1): c.2077_2078insTA (p.Asp693Valfs)insertionPathogenicrs80357595GRCh38Chr 17, 43093453: 43093454
32BRCA1U14680.1: n.2294delGdeletionPathogenic
33BRCA1NM_007294.3(BRCA1): c.2188dupG (p.Glu730Glyfs)duplicationPathogenicrs80357566GRCh38Chr 17, 43093343: 43093343
34BRCA1NM_007294.3(BRCA1): c.2214delT (p.Val740Cysfs)deletionPathogenicrs80357574GRCh38Chr 17, 43093317: 43093317
35BRCA1NM_007294.3(BRCA1): c.2215_2216insCT (p.Lys739Thrfs)insertionPathogenicrs80357930GRCh38Chr 17, 43093315: 43093316
36BRCA1NM_007294.3(BRCA1): c.2217dupA (p.Val740Serfs)duplicationPathogenicrs80357802GRCh38Chr 17, 43093314: 43093314
37BRCA1NM_007294.3(BRCA1): c.2256_2257insTA (p.Ser753Terfs)insertionPathogenicrs80357557GRCh38Chr 17, 43093274: 43093275
38BRCA1NM_007294.3(BRCA1): c.2273dupT (p.Leu758Phefs)duplicationPathogenicrs80357681GRCh37Chr 17, 41245275: 41245275
39BRCA1NM_007294.3(BRCA1): c.2309C> T (p.Ser770Leu)single nucleotide variantPathogenicrs80357063GRCh38Chr 17, 43093222: 43093222
40BRCA1NM_007294.3(BRCA1): c.2337_2338delTC (p.Gln780Glyfs)deletionPathogenicrs80357515GRCh37Chr 17, 41245210: 41245211
41BRCA1NM_007294.3(BRCA1): c.2355dupA (p.Leu786Thrfs)duplicationPathogenicrs80357990GRCh38Chr 17, 43093176: 43093176
42BRCA1U14680.1: n.2494delCdeletionPathogenic
43BRCA1NM_007294.3(BRCA1): c.2376delG (p.Lys793Argfs)deletionPathogenicrs80357913GRCh38Chr 17, 43093155: 43093155
44BRCA1U14680.1: n.252_256del5insTinsertionPathogenic
45BRCA1NM_007294.3(BRCA1): c.134+1G> Csingle nucleotide variantPathogenicrs80358043GRCh38Chr 17, 43115725: 43115725
46BRCA1NM_007294.3(BRCA1): c.135-2A> Gsingle nucleotide variantPathogenicrs80358065GRCh37Chr 17, 41258552: 41258552
47BRCA1NM_007294.3(BRCA1): c.2438dupG (p.Leu814Thrfs)duplicationPathogenicrs80357503GRCh38Chr 17, 43093093: 43093093
48BRCA1NM_007294.3(BRCA1): c.139dupT (p.Cys47Leufs)duplicationPathogenicrs80357734GRCh38Chr 17, 43106529: 43106529
49BRCA1NM_007294.3(BRCA1): c.2474dupA (p.Asp825Glufs)duplicationPathogenicrs80357830GRCh37Chr 17, 41245074: 41245074
50BRCA1U14680.1: n.2607dupAAGTATCCATduplicationPathogenic
51BRCA1NM_007294.3(BRCA1): c.2586_2593delGGTTTCAA (p.Val863Alafs)deletionPathogenicrs80357675GRCh38Chr 17, 43092938: 43092945
52BRCA1NM_007294.3(BRCA1): c.2604_2605insGTCA (p.Phe869Valfs)insertionPathogenicrs80357603GRCh38Chr 17, 43092926: 43092927
53BRCA1NM_007294.3(BRCA1): c.2658_2659insA (p.Ala887Serfs)insertionPathogenicrs80357541GRCh38Chr 17, 43092872: 43092873
54BRCA1NM_007294.3(BRCA1): c.2686delA (p.Ser896Valfs)deletionPathogenicrs273899687GRCh37Chr 17, 41244862: 41244862
55BRCA1NM_007294.3(BRCA1): c.166_167insGA (p.Lys56Argfs)insertionPathogenicrs80357550GRCh38Chr 17, 43106501: 43106502
56BRCA1NM_007294.3(BRCA1): c.171delG (p.Pro58Leufs)deletionPathogenicrs80357660GRCh38Chr 17, 43106497: 43106497
57BRCA1NM_007294.3(BRCA1): c.2799delT (p.Gln934Argfs)deletionPathogenicrs80357998GRCh37Chr 17, 41244749: 41244749
58BRCA1NM_007294.3(BRCA1): c.2868delT (p.Gln957Serfs)deletionPathogenicrs80357929GRCh37Chr 17, 41244680: 41244680
59BRCA1NM_007294.3(BRCA1): c.2871_2872insA (p.Phe958Ilefs)insertionPathogenicrs80357693GRCh38Chr 17, 43092659: 43092660
60BRCA1NM_007294.3(BRCA1): c.2889_2890delTG (p.Gly964Thrfs)deletionPathogenicrs80357890GRCh37Chr 17, 41244658: 41244659
61BRCA1NM_007294.3(BRCA1): c.2995_2996delCTinsTA (p.Leu999Ter)indelPathogenicrs273899692GRCh38Chr 17, 43092535: 43092536
62BRCA1NM_007294.3(BRCA1): c.3044dupG (p.Asn1016Lysfs)duplicationPathogenicrs80357746GRCh38Chr 17, 43092487: 43092487
63BRCA1NM_007294.3(BRCA1): c.3053_3054insTGAGA (p.Ile1019Glufs)insertionPathogenicrs80357547GRCh38Chr 17, 43092477: 43092478
64BRCA1NM_007294.3(BRCA1): c.3100_3101insTAACATTAGAGAAA (p.Asn1034Ilefs)insertionPathogenicrs80357967GRCh38Chr 17, 43092430: 43092431
65BRCA1NM_007294.3(BRCA1): c.204dupA (p.Thr69Asnfs)duplicationPathogenicrs273898673GRCh38Chr 17, 43106464: 43106464
66BRCA1NM_007294.3(BRCA1): c.3114_3117delAGCCinsGA (p.Ala1039Lysfs)indelPathogenicrs273899700GRCh37Chr 17, 41244431: 41244434
67BRCA1U14680.1: n.3235_3238delCAGCdeletionPathogenic
68BRCA1NM_007294.3(BRCA1): c.3158_3159insG (p.Val1054Serfs)insertionPathogenicrs80357769GRCh37Chr 17, 41244389: 41244390
69U14680.1: n.331+1G> A,del22deletionPathogenic
70BRCA1NM_007294.3(BRCA1): c.3194_3195insG (p.Asp1065Glufs)insertionPathogenicrs80357883GRCh38Chr 17, 43092336: 43092337
71BRCA1NM_007294.3(BRCA1): c.213-3C> Gsingle nucleotide variantPathogenicrs80358119GRCh38Chr 17, 43104959: 43104959
72BRCA1NM_007294.3(BRCA1): c.3256_3257insGA (p.Leu1086Terfs)insertionPathogenicrs80357764GRCh38Chr 17, 43092274: 43092275
73BRCA1NM_007294.3(BRCA1): c.3288_3289ins46 (p.?)insertionPathogenicrs483353088GRCh38Chr 17, 43092242: 43092243
74BRCA1NM_007294.3(BRCA1): c.3330_3331insA (p.Gln1111Thrfs)insertionPathogenicrs80357996GRCh37Chr 17, 41244217: 41244218
75BRCA1NM_007294.3(BRCA1): c.3351dupT (p.Gln1118Serfs)duplicationPathogenicrs80357785GRCh38Chr 17, 43092180: 43092180
76BRCA1NM_007294.3(BRCA1): c.3357delT (p.Val1120Leufs)deletionPathogenicrs80357827GRCh37Chr 17, 41244191: 41244191
77BRCA1NM_007294.3(BRCA1): c.3462dupA (p.Asp1155Argfs)duplicationPathogenicrs80357857GRCh38Chr 17, 43092069: 43092069
78BRCA1NM_007294.3(BRCA1): c.3516_3517ins100 (p.?)insertionPathogenicGRCh38Chr 17, 43092014: 43092015
79BRCA1NM_007294.3(BRCA1): c.3548_3549delAA (p.Lys1183Argfs)deletionPathogenicrs80357956GRCh38Chr 17, 43091982: 43091983
80BRCA1NM_007294.3(BRCA1): c.3571_3572ins4insertionPathogenicrs483353089GRCh38Chr 17, 43091959: 43091960
81BRCA1U14680.1: n.3702delAdeletionPathogenic
82BRCA1NM_007294.3(BRCA1): c.3593_3594insTT (p.Leu1198Phefs)insertionPathogenicrs80357562GRCh38Chr 17, 43091937: 43091938
83BRCA1NM_007294.3(BRCA1): c.3620dupA (p.Lys1208Glufs)duplicationPathogenicrs80357926GRCh38Chr 17, 43091911: 43091911
84BRCA1NM_007294.3(BRCA1): c.3649_3650insA (p.Ser1217Tyrfs)insertionPathogenicrs80357831GRCh38Chr 17, 43091881: 43091882
85BRCA1NM_007294.3(BRCA1): c.3766dupA (p.Thr1256Asnfs)duplicationPathogenicrs80357704GRCh38Chr 17, 43091765: 43091765
86BRCA1NM_007294.3(BRCA1): c.3771_3772delGG (p.Asn1259Phefs)deletionPathogenicrs80357810GRCh37Chr 17, 41243776: 41243777
87BRCA1NM_007294.3(BRCA1): c.3778_3779insA (p.Leu1260Tyrfs)insertionPathogenicrs80357849GRCh38Chr 17, 43091752: 43091753
88BRCA1NM_007294.3(BRCA1): c.3830dupC (p.Ala1279Glyfs)duplicationPathogenicrs80357878GRCh38Chr 17, 43091701: 43091701
89BRCA1NM_007294.3(BRCA1): c.3867_3871delAAAAT (p.Lys1290Phefs)deletionPathogenicrs80357560GRCh37Chr 17, 41243677: 41243681
90BRCA1NM_007294.3(BRCA1): c.3908dupT (p.Leu1303Phefs)duplicationPathogenicrs80357634GRCh38Chr 17, 43091623: 43091623
91BRCA1NM_007294.3(BRCA1): c.288_292delCACAGins7indelPathogenicrs483353091GRCh37Chr 17, 41256894: 41256898
92BRCA1NM_007294.3(BRCA1): c.301+2_301+3insTinsertionPathogenicrs273899694GRCh37Chr 17, 41256882: 41256883
93BRCA1NM_007294.3(BRCA1): c.302-1G> Tsingle nucleotide variantPathogenicrs80358116GRCh37Chr 17, 41256279: 41256279
94BRCA1NM_007294.3(BRCA1): c.302-2A> Tsingle nucleotide variantPathogenicrs80358011GRCh38Chr 17, 43104263: 43104263
95BRCA1NM_007294.3(BRCA1): c.302-2_302-1deldeletionPathogenicrs483353093GRCh37Chr 17, 41256279: 41256280
96BRCA1NM_007294.3(BRCA1): c.4110_4111delTG (p.Gly1371Valfs)deletionPathogenicrs80357529GRCh37Chr 17, 41243035: 41243036
97BRCA1NM_007294.3(BRCA1): c.4111_4112insATCT (p.Gly1371Aspfs)insertionPathogenicrs80357935GRCh38Chr 17, 43091017: 43091018
98BRCA1NM_007294.3(BRCA1): c.4113delG (p.Cys1372Valfs)deletionPathogenicrs80357861GRCh38Chr 17, 43091016: 43091016
99BRCA1NM_007294.3(BRCA1): c.4128_4129delAA (p.Ser1377Argfs)deletionPathogenicrs80357921GRCh37Chr 17, 41243017: 41243018
100BRCA1NM_007294.3(BRCA1): c.4163dupA (p.Ser1389Glufs)duplicationPathogenicrs80357788GRCh38Chr 17, 43090966: 43090966
101BRCA1NM_007294.3(BRCA1): c.4167_4168insAG (p.Asp1390Argfs)insertionPathogenicrs80357847GRCh38Chr 17, 43090961: 43090962
102BRCA1U14680.1: n.4305-1643_del3835deletionPathogenic
103BRCA1NM_007294.3(BRCA1): c.4214delT (p.Ile1405Lysfs)deletionPathogenicrs273900728GRCh38Chr 17, 43082547: 43082547
104BRCA1NM_007294.3(BRCA1): c.4285_4286insG (p.Tyr1429Terfs)insertionPathogenicrs80357716GRCh38Chr 17, 43082475: 43082476
105BRCA1NM_007294.3(BRCA1): c.4289dupC (p.Ser1431Phefs)duplicationPathogenicrs80357556GRCh38Chr 17, 43082472: 43082472
106BRCA1NM_007294.3(BRCA1): c.4338_4339ins4insertionPathogenicrs397509164GRCh38Chr 17, 43082422: 43082423
107BRCA1NM_007294.3(BRCA1): c.4463dupA (p.Asn1488Lysfs)duplicationPathogenicrs80357620GRCh38Chr 17, 43076509: 43076509
108BRCA1NM_007294.3(BRCA1): c.4644_4645ins8insertionPathogenicrs483353094GRCh38Chr 17, 43074361: 43074362
109BRCA1NM_007294.3(BRCA1): c.4675+3A> Tsingle nucleotide variantPathogenicrs80358082GRCh38Chr 17, 43074328: 43074328
110BRCA1NM_007294.3(BRCA1): c.4676-1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs80358008GRCh38Chr 17, 43071239: 43071239
111BRCA1NM_007294.3(BRCA1): c.4676-2A> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs80358096GRCh37Chr 17, 41223257: 41223257
112BRCA1NM_007294.3(BRCA1): c.4696_4697insA (p.Ser1566Tyrfs)insertionPathogenicrs483353095GRCh37Chr 17, 41223234: 41223235
113BRCA1NM_007294.3(BRCA1): c.4764_4765delTC (p.Arg1589Cysfs)deletionPathogenicrs80357795GRCh37Chr 17, 41223166: 41223167
114BRCA1NM_007294.3(BRCA1): c.4843dupG (p.Ala1615Glyfs)duplicationPathogenicrs80357615GRCh38Chr 17, 43071071: 43071071
115BRCA1NM_007294.3(BRCA1): c.4891dupA (p.Ser1631Lysfs)duplicationPathogenicrs80357656GRCh37Chr 17, 41223040: 41223040
116BRCA1NM_007294.3(BRCA1): c.4933_4934insAA (p.Arg1645Lysfs)insertionPathogenicrs80357833GRCh38Chr 17, 43070980: 43070981
117BRCA1NM_007294.3(BRCA1): c.4944_4945delAA (p.Arg1649Asnfs)deletionPathogenicrs80357655GRCh38Chr 17, 43070969: 43070970
118BRCA1NM_007294.3(BRCA1): c.4986+1G> Asingle nucleotide variantPathogenicrs80358162GRCh38Chr 17, 43070927: 43070927
119BRCA1U14680.1: n.5106-1A> Gsingle nucleotide variantPathogenic
120BRCA1NM_007294.3(BRCA1): c.5007_5008ins13 (p.?)insertionPathogenicrs483353097GRCh37Chr 17, 41219691: 41219692
121BRCA1NM_007294.3(BRCA1): c.5033_5034ins4insertionPathogenicrs483353098GRCh37Chr 17, 41219665: 41219666
122BRCA1NM_007294.3(BRCA1): c.5056dupC (p.His1686Profs)duplicationPathogenicrs80357974GRCh38Chr 17, 43067626: 43067626
123BRCA1NM_007294.3(BRCA1): c.5075-1G> Csingle nucleotide variantPathogenicrs1800747GRCh37Chr 17, 41215969: 41215969
124BRCA1NM_007294.3(BRCA1): c.5098delA (p.Thr1700Hisfs)deletionPathogenicrs483353099GRCh38Chr 17, 43063928: 43063928
125BRCA1NM_007294.3(BRCA1): c.5145delC (p.Tyr1716Ilefs)deletionPathogenicrs80357870GRCh38Chr 17, 43063881: 43063881
126BRCA1NM_007294.3(BRCA1): c.5152+1G> Asingle nucleotide variantPathogenicrs80358094GRCh37Chr 17, 41215890: 41215890
127BRCA1NM_007294.3(BRCA1): c.5152+3_5152+4insTinsertionPathogenicrs273901744GRCh37Chr 17, 41215887: 41215888
128BRCA1U14680.1: n.5312+3_del13deletionPathogenic
129BRCA1NM_007294.3(BRCA1): c.5194-1G> Asingle nucleotide variantPathogenicrs80358173GRCh37Chr 17, 41209153: 41209153
130BRCA1NM_007294.3(BRCA1): c.5241delA (p.Gly1748Valfs)deletionPathogenicrs80357791GRCh38Chr 17, 43057088: 43057088
131BRCA1U14680.1: n.5389_5395delCAGAAAGdeletionPathogenic
132BRCA1U14680.1: n.5396+1_del6deletionPathogenic
133BRCA1NM_007294.3(BRCA1): c.5304delC (p.Tyr1769Metfs)deletionPathogenicrs80357959GRCh38Chr 17, 43051091: 43051091
134BRCA1U14680.1: n.5430_5452del23deletionPathogenic
135BRCA1NM_007294.3(BRCA1): c.5332+2T> Asingle nucleotide variantPathogenicrs80358182GRCh37Chr 17, 41203078: 41203078
136BRCA1U14680.1: n.5452-36_del510deletionPathogenic
137BRCA1NM_007294.3(BRCA1): c.5352dupA (p.Gln1785Thrfs)duplicationPathogenicrs80357744GRCh38Chr 17, 43049175: 43049175
138BRCA1NM_007294.3(BRCA1): c.5370_5397del28 (p.Val1791Leufs)deletionPathogenicrs80359878GRCh38Chr 17, 43049130: 43049157
139BRCA1NM_007294.3(BRCA1): c.5406+2deldeletionPathogenicrs273901765GRCh38Chr 17, 43049119: 43049119
140BRCA1NM_007294.3(BRCA1): c.5407-1G> Asingle nucleotide variantPathogenicrs80358029GRCh38Chr 17, 43047704: 43047704
141BRCA1NM_007294.3(BRCA1): c.5407-1G> Csingle nucleotide variantPathogenicrs80358029GRCh38Chr 17, 43047704: 43047704
142BRCA1NM_007294.3(BRCA1): c.5407-2A> Tsingle nucleotide variantPathogenicrs80358002GRCh38Chr 17, 43047705: 43047705
143BRCA1NM_007294.3(BRCA1): c.5467+2T> Csingle nucleotide variantLikely pathogenic, Pathogenicrs80358009GRCh38Chr 17, 43047641: 43047641
144BRCA1NM_007294.3(BRCA1): c.5467+2T> Gsingle nucleotide variantPathogenicrs80358009GRCh38Chr 17, 43047641: 43047641
145BRCA1NM_007294.3(BRCA1): c.5468-1G> Asingle nucleotide variantPathogenicrs80358048GRCh37Chr 17, 41197820: 41197820
146BRCA1NM_007294.3(BRCA1): c.5468-40T> Asingle nucleotide variantPathogenicrs80358151GRCh38Chr 17, 43045842: 43045842
147BRCA1NM_007294.3(BRCA1): c.5490delA (p.Pro1831Leufs)deletionPathogenicrs80357976GRCh37Chr 17, 41197797: 41197797
148BRCA1NM_007294.3(BRCA1): c.442-2A> Csingle nucleotide variantPathogenicrs80358155GRCh37Chr 17, 41251899: 41251899
149BRCA1NM_007294.3(BRCA1): c.5498_5511delTGACCCGAGAGTGG (p.Val1833Glyfs)deletionPathogenicrs80359873GRCh38Chr 17, 43045759: 43045772
150BRCA1L824Xsingle nucleotide variantPathogenic
151BRCA1NM_007294.3(BRCA1): c.5534_5539delACCAGTins20 (p.?)indelPathogenicrs483353102GRCh37Chr 17, 41197748: 41197753
152BRCA1NM_007294.3(BRCA1): c.5563delAins6indelPathogenicrs483353103GRCh38Chr 17, 43045707: 43045707
153BRCA1NM_007294.3(BRCA1): c.456_457delCA (p.Ser153Cysfs)deletionPathogenicrs80357882GRCh38Chr 17, 43099865: 43099866
154BRCA1NM_007294.3(BRCA1): c.464delA (p.Gln155Hisfs)deletionPathogenicrs483353104GRCh38Chr 17, 43099858: 43099858
155BRCA1NM_007294.3(BRCA1): c.547+1G> Asingle nucleotide variantPathogenicrs80358030GRCh38Chr 17, 43099774: 43099774
156BRCA1NM_007294.3(BRCA1): c.625_626ins20 (p.?)insertionPathogenicrs483353106GRCh37Chr 17, 41247907: 41247908
157BRCA1NM_007294.3(BRCA1): c.668dupA (p.Ala224Glyfs)duplicationPathogenicrs80357537GRCh38Chr 17, 43095848: 43095848
158BRCA1NM_007294.3(BRCA1): c.671-1G> Tsingle nucleotide variantLikely pathogenic, Pathogenicrs80358020GRCh38Chr 17, 43094861: 43094861
159BRCA1NM_007294.3(BRCA1): c.807_808ins11 (p.?)insertionPathogenicrs483353107GRCh38Chr 17, 43094723: 43094724
160BRCA1NM_007294.3(BRCA1): c.833_834insA (p.His279Serfs)insertionPathogenicrs483353108GRCh38Chr 17, 43094697: 43094698
161BRCA1NM_007294.3(BRCA1): c.842_843insAG (p.Ser281Argfs)insertionPathogenicrs80357792GRCh38Chr 17, 43094688: 43094689
162BRCA1NM_007294.3(BRCA1): c.851_852ins7insertionPathogenicrs483353109GRCh37Chr 17, 41246696: 41246697
163BRCA2NM_000059.3(BRCA2): c.1909+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs587781629GRCh37Chr 13, 32907525: 32907525
164BRCA2NM_000059.3(BRCA2): c.6816_6820delAAGAG (p.Gly2274Alafs)deletionPathogenicrs587781803GRCh37Chr 13, 32915308: 32915312
165BRCA1NM_007294.3(BRCA1): c.1612_1616delCAAAC (p.Gln538Glyfs)deletionPathogenicrs587776480GRCh38Chr 17, 43093915: 43093919
166BRCA1NM_007294.3(BRCA1): c.273_274delTG (p.Ala92Phefs)deletionPathogenicrs587776485GRCh38Chr 17, 43104895: 43104896
167BRCA1NM_007294.3(BRCA1): c.190T> G (p.Cys64Gly)single nucleotide variantPathogenicrs80357064GRCh37Chr 17, 41258495: 41258495
168BRCA1NM_007294.3(BRCA1): c.181T> G (p.Cys61Gly)single nucleotide variantPathogenicrs28897672GRCh37Chr 17, 41258504: 41258504
169BRCA1NM_007294.3(BRCA1): c.68_69delAG (p.Glu23Valfs)deletionPathogenic, risk factorrs386833395GRCh37Chr 17, 41276047: 41276048
170BRCA1BRCA1, 59-BP INSinsertionPathogenic
171BRCA1NM_007294.3(BRCA1): c.1175_1214del40 (p.Leu392Glnfs)deletionLikely pathogenic, Pathogenicrs80359874GRCh37Chr 17, 41246334: 41246373
172BRCA1NM_007294.3(BRCA1): c.2296_2297delAG (p.Ser766Terfs)deletionPathogenicrs80357780GRCh37Chr 17, 41245251: 41245252
173BRCA1NM_007294.3(BRCA1): c.2681_2682delAA (p.Lys894Thrfs)deletionPathogenicrs80357971GRCh37Chr 17, 41244866: 41244867
174BRCA1NM_007294.3(BRCA1): c.3005delA (p.Asn1002Thrfs)deletionPathogenicrs80357601GRCh38Chr 17, 43092526: 43092526
175BRCA1NM_007294.3(BRCA1): c.3607C> T (p.Arg1203Ter)single nucleotide variantPathogenicrs62625308GRCh37Chr 17, 41243941: 41243941
176BRCA1NM_007294.3(BRCA1): c.3748G> T (p.Glu1250Ter)single nucleotide variantPathogenicrs28897686GRCh37Chr 17, 41243800: 41243800
177BRCA1NM_007294.3(BRCA1): c.3756_3759delGTCT (p.Ser1253Argfs)deletionLikely pathogenic, Pathogenicrs80357868GRCh37Chr 17, 41243789: 41243792
178BRCA1NM_007294.3(BRCA1): c.4065_4068delTCAA (p.Asn1355Lysfs)deletionLikely pathogenic, Pathogenicrs80357508GRCh37Chr 17, 41243480: 41243483
179BRCA1NM_007294.3(BRCA1): c.4327C> T (p.Arg1443Ter)single nucleotide variantPathogenicrs41293455GRCh37Chr 17, 41234451: 41234451
180BRCA1NM_007294.3(BRCA1): c.5266dupC (p.Gln1756Profs)duplicationPathogenic, risk factorrs80357906GRCh37Chr 17, 41209082: 41209082
181BRCA1NM_007294.3(BRCA1): c.4966_4984del19 (p.Gly1656Leufs)deletionPathogenicrs80359884GRCh37Chr 17, 41222947: 41222965
182BRCA1NM_007294.3(BRCA1): c.2389G> T (p.Glu797Ter)single nucleotide variantPathogenicrs62625306GRCh37Chr 17, 41245159: 41245159
183BRCA1NM_007294.3(BRCA1): c.843_846delCTCA (p.Ser282Tyrfs)deletionPathogenicrs80357919GRCh37Chr 17, 41246702: 41246705
184BRCA1NM_007294.3(BRCA1): c.3481_3491delGAAGATACTAG (p.Glu1161Phefs)deletionPathogenicrs80357877GRCh37Chr 17, 41244057: 41244067
185BRCA1NM_007294.3(BRCA1): c.1556delA (p.Lys519Argfs)deletionPathogenicrs80357662GRCh37Chr 17, 41245992: 41245992
186BRCA1BRCA1, 1-BP DEL, 4153AdeletionPathogenic
187BRCA1BRCA1, 6-KB DUP, EX13insertionPathogenic
188BRCA1NM_007294.3(BRCA1): c.211A> G (p.Arg71Gly)single nucleotide variantLikely pathogenic, Pathogenicrs80357382GRCh37Chr 17, 41258474: 41258474
189BRCA1NM_007294.3(BRCA1): c.5324T> G (p.Met1775Arg)single nucleotide variantPathogenicrs41293463GRCh37Chr 17, 41203088: 41203088
190BRCA1NM_007294.3(BRCA1): c.5324T> A (p.Met1775Lys)single nucleotide variantPathogenicrs41293463GRCh37Chr 17, 41203088: 41203088
191BRCA1NM_007294.3(BRCA1): c.4837_4838delAGinsGCC (p.Ser1613Alafs)indelLikely pathogenicrs730880287GRCh38Chr 17, 43071076: 43071077
192BRCA1NM_007294.3(BRCA1): c.5133delA (p.Lys1711Asnfs)deletionLikely pathogenicrs730880288GRCh38Chr 17, 43063893: 43063893
193BRCA1NM_007294.3(BRCA1): c.4987-1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs730881495GRCh38Chr 17, 43067696: 43067696
194BRCA1NM_007294.3(BRCA1): c.3511A> T (p.Lys1171Ter)single nucleotide variantPathogenicrs730882164GRCh37Chr 17, 41244037: 41244037
195BRCA1NM_007294.3(BRCA1): c.4998C> A (p.Tyr1666Ter)single nucleotide variantPathogenicrs730882165GRCh37Chr 17, 41219701: 41219701
196BRCA1NM_007294.3(BRCA1): c.5057A> G (p.His1686Arg)single nucleotide variantPathogenicrs730882166GRCh37Chr 17, 41219642: 41219642
197BRCA1NM_007294.3(BRCA1): c.5167delAinsTTT (p.Ile1723Phefs)indelPathogenicrs730882167GRCh37Chr 17, 41215376: 41215376
198BRCA1NM_007294.3(BRCA1): c.5194-?_5277+?deldeletionPathogenic
199BRCA1NM_007294.3(BRCA1): c.885_886delCA (p.Asp295Glufs)deletionPathogenicrs786204261GRCh38Chr 17, 43094645: 43094646
200BRCA1NM_007294.3(BRCA1): c.892_895dupAATG (p.Val299Glufs)duplicationPathogenicrs80357806GRCh38Chr 17, 43094636: 43094639
201BRCA1NM_007294.3(BRCA1): c.984_988delTAATG (p.Cys328Terfs)deletionLikely pathogenicrs786204262GRCh37Chr 17, 41246560: 41246564
202BRCA1NM_007294.3(BRCA1): c.2298dupT (p.Ser767Terfs)duplicationLikely pathogenicrs786204264GRCh38Chr 17, 43093233: 43093233
203BRCA1NM_007294.3(BRCA1): c.4218_4357+130dupduplicationLikely pathogenicGRCh38Chr 17, 43082274: 43082543
204BRCA1NM_007294.3(BRCA1): c.4358_4484del127 (p.Ala1453Glyfs)deletionLikely pathogenicGRCh38Chr 17, 43076488: 43076614
205BRCA1NM_007294.3(BRCA1): c.4386dupA (p.Tyr1463Ilefs)duplicationPathogenicrs786204267GRCh38Chr 17, 43076586: 43076586
206BRCA1NM_007294.3(BRCA1): c.5543_5545delAGGins43 (p.?)indelLikely pathogenicrs786204270GRCh38Chr 17, 43045725: 43045727
207BRCA1NM_007294.3(BRCA1)insertionPathogenicrs797044631GRCh37Chr 17, 41243800: 41243801
208BRCA1NM_007294.3(BRCA1): c.4647_4648dupAA (p.Thr1550Lysfs)duplicationPathogenicrs869025213GRCh38Chr 17, 43074358: 43074359
209BRCA2NM_000059.3(BRCA2): c.3689_3690delCT (p.Ser1230Tyrfs)deletionPathogenicrs869312759GRCh37Chr 13, 32912181: 32912182
210BRCA2NM_000059.3(BRCA2): c.8419_8428delTCGCTTTTCA (p.Ser2807Valfs)deletionPathogenicrs869312760GRCh38Chr 13, 32370489: 32370498
211BRCA1NM_007294.3(BRCA1): c.1016delA (p.Lys339Argfs)deletionPathogenicrs80357618GRCh37Chr 17, 41246532: 41246532
212BRCA1NM_007294.3(BRCA1): c.1018delG (p.Val340Terfs)deletionPathogenicrs80357774GRCh37Chr 17, 41246530: 41246530
213BRCA1NM_007294.3(BRCA1): c.1121delC (p.Thr374Asnfs)deletionPathogenicrs80357612GRCh37Chr 17, 41246427: 41246427
214BRCA1NM_007294.3(BRCA1): c.116G> A (p.Cys39Tyr)single nucleotide variantPathogenicrs80357498GRCh37Chr 17, 41267761: 41267761
215BRCA1NM_007294.3(BRCA1): c.116G> T (p.Cys39Phe)single nucleotide variantPathogenicrs80357498GRCh37Chr 17, 41267761: 41267761
216BRCA1NM_007294.3(BRCA1): c.1175_1215del41 (p.Leu392Glnfs)deletionPathogenicrs397507180GRCh37Chr 17, 41246333: 41246373
217BRCA1NM_007294.3(BRCA1): c.1175_1216del42 (p.Leu392_Asn406delinsHis)deletionPathogenicrs397507181GRCh37Chr 17, 41246332: 41246373
218BRCA1NM_007294.3(BRCA1): c.1175_1217del43 (p.Leu393Profs)deletionPathogenicrs397507182GRCh37Chr 17, 41246331: 41246373
219BRCA1NM_007294.3(BRCA1): c.1175_1218del44 (p.Leu392Argfs)deletionPathogenicrs397507183GRCh37Chr 17, 41246330: 41246373
220BRCA1NM_007294.3(BRCA1): c.134+5G> Csingle nucleotide variantLikely pathogenicrs80358038GRCh37Chr 17, 41267738: 41267738
221BRCA1NM_007294.3(BRCA1): c.1340_1341insG (p.His448Serfs)insertionPathogenicrs80357597GRCh37Chr 17, 41246207: 41246208
222BRCA1NM_007294.3(BRCA1): c.135-1G> Tsingle nucleotide variantPathogenicrs80358158GRCh37Chr 17, 41258551: 41258551
223BRCA1NM_007294.3(BRCA1): c.1360_1361delAG (p.Ser454Terfs)deletionPathogenicrs80357969GRCh37Chr 17, 41246187: 41246188
224BRCA1NM_007294.3(BRCA1): c.1387_1390delAAAAins5indelPathogenicrs397508866GRCh37Chr 17, 41246158: 41246161
225BRCA1NM_007294.3(BRCA1): c.1389_1390delAAinsG (p.Thr464Profs)indelPathogenicrs273897659GRCh37Chr 17, 41246158: 41246159
226BRCA1NM_007294.3(BRCA1): c.143delT (p.Met48Serfs)deletionPathogenicrs80357637GRCh37Chr 17, 41258542: 41258542
227BRCA1NM_007294.3(BRCA1): c.1444_1447delATTA (p.Ile482Terfs)deletionPathogenicrs80357801GRCh37Chr 17, 41246101: 41246104
228BRCA1NM_007294.3(BRCA1): c.1480C> T (p.Gln494Ter)single nucleotide variantPathogenicrs80357010GRCh37Chr 17, 41246068: 41246068
229BRCA1NM_007294.3(BRCA1): c.1504_1508delTTAAA (p.Leu502Alafs)deletionPathogenicrs80357888GRCh37Chr 17, 41246040: 41246044
230BRCA1NM_007294.3(BRCA1): c.1510delC (p.Arg504Valfs)deletionPathogenicrs80357908GRCh37Chr 17, 41246038: 41246038
231BRCA1NM_007294.3(BRCA1): c.1674delA (p.Gly559Valfs)deletionPathogenicrs80357600GRCh37Chr 17, 41245874: 41245874
232BRCA1NM_007294.3(BRCA1): c.1687C> T (p.Gln563Ter)single nucleotide variantPathogenicrs80356898GRCh37Chr 17, 41245861: 41245861
233BRCA1NM_007294.3(BRCA1): c.1728dupA (p.Glu577Argfs)duplicationPathogenicrs397507192GRCh37Chr 17, 41245820: 41245820
234BRCA1NM_007294.3(BRCA1): c.1854delG (p.Arg618Serfs)deletionPathogenicrs397507193GRCh37Chr 17, 41245694: 41245694
235BRCA1NM_007294.3(BRCA1): c.1877_1878ins4insertionPathogenicrs80357516GRCh37Chr 17, 41245670: 41245671
236BRCA1NM_007294.3(BRCA1): c.1921dupA (p.Ile641Asnfs)duplicationPathogenicrs397507194GRCh37Chr 17, 41245627: 41245627
237BRCA1NM_007294.3(BRCA1): c.1953_1956delGAAA (p.Lys653Serfs)deletionPathogenicrs80357526GRCh37Chr 17, 41245592: 41245595
238BRCA1NM_007294.3(BRCA1): c.1960A> T (p.Lys654Ter)single nucleotide variantPathogenicrs80357355GRCh37Chr 17, 41245588: 41245588
239BRCA1NM_007294.3(BRCA1): c.1961delA (p.Lys654Serfs)deletionPathogenicrs80357522GRCh37Chr 17, 41245587: 41245587
240BRCA1NM_007294.3(BRCA1): c.1972delA (p.Met658Cysfs)deletionPathogenicrs397507195GRCh37Chr 17, 41245576: 41245576
241BRCA1NM_007294.3(BRCA1): c.2071delA (p.Arg691Aspfs)deletionPathogenicrs80357688GRCh37Chr 17, 41245477: 41245477
242BRCA1NM_007294.3(BRCA1): c.2105dupT (p.Leu702Phefs)duplicationPathogenicrs80357880GRCh37Chr 17, 41245443: 41245443
243BRCA1NM_007294.3(BRCA1): c.212+1G> Asingle nucleotide variantPathogenicrs80358042GRCh37Chr 17, 41258472: 41258472
244BRCA1NM_007294.3(BRCA1): c.2125_2126ins3insertionPathogenicrs80357871GRCh37Chr 17, 41245422: 41245423
245BRCA1NM_007294.3(BRCA1): c.213-11T> Gsingle nucleotide variantPathogenicrs80358061GRCh37Chr 17, 41256984: 41256984
246BRCA1NM_007294.3(BRCA1): c.213-12A> Gsingle nucleotide variantPathogenicrs80358163GRCh37Chr 17, 41256985: 41256985
247BRCA1NM_007294.3(BRCA1): c.2138C> G (p.Ser713Ter)single nucleotide variantPathogenicrs80357233GRCh37Chr 17, 41245410: 41245410
248BRCA1NM_007294.3(BRCA1): c.2158G> T (p.Glu720Ter)single nucleotide variantPathogenicrs80356875GRCh37Chr 17, 41245390: 41245390
249BRCA1NM_007294.3(BRCA1): c.2210_2211delCA (p.Thr737Serfs)deletionPathogenicrs80357654GRCh37Chr 17, 41245337: 41245338
250BRCA1NM_007294.3(BRCA1): c.2214_2215insTT (p.Lys739Leufs)insertionPathogenicrs397507197GRCh37Chr 17, 41245333: 41245334
251BRCA1NM_007294.3(BRCA1): c.2269delG (p.Val757Phefs)deletionPathogenicrs80357583GRCh37Chr 17, 41245279: 41245279
252BRCA1NM_007294.3(BRCA1): c.2299delA (p.Ser767Alafs)deletionPathogenicrs80357786GRCh37Chr 17, 41245249: 41245249
253BRCA1NM_007294.3(BRCA1): c.2411_2412delAG (p.Gln804Leufs)deletionPathogenicrs80357664GRCh37Chr 17, 41245136: 41245137
254BRCA1NM_007294.3(BRCA1): c.2424delT (p.Phe808Leufs)deletionPathogenicrs397507200GRCh37Chr 17, 41245124: 41245124
255BRCA1NM_007294.3(BRCA1): c.2433delC (p.Lys812Argfs)deletionPathogenicrs80357524GRCh37Chr 17, 41245115: 41245115
256BRCA1NM_007294.3(BRCA1): c.2457delC (p.Asp821Ilefs)deletionPathogenicrs80357669GRCh37Chr 17, 41245091: 41245091
257BRCA1NM_007294.3(BRCA1): c.2475delC (p.Asp825Glufs)deletionPathogenicrs80357970GRCh37Chr 17, 41245073: 41245073
258BRCA1NM_007294.3(BRCA1): c.2515delC (p.His839Thrfs)deletionPathogenicrs80357607GRCh37Chr 17, 41245033: 41245033
259BRCA1NM_007294.3(BRCA1): c.2563C> T (p.Gln855Ter)single nucleotide variantPathogenicrs80357131GRCh37Chr 17, 41244985: 41244985
260BRCA1NM_007294.3(BRCA1): c.2603C> G (p.Ser868Ter)single nucleotide variantPathogenicrs80356925GRCh37Chr 17, 41244945: 41244945
261BRCA1NM_007294.3(BRCA1): c.2635G> T (p.Glu879Ter)single nucleotide variantPathogenicrs80357251GRCh37Chr 17, 41244913: 41244913
262BRCA1NM_007294.3(BRCA1): c.2677A> T (p.Lys893Ter)single nucleotide variantPathogenicrs80357170GRCh37Chr 17, 41244871: 41244871
263BRCA1NM_007294.3(BRCA1): c.2679_2682delGAAA (p.Lys893Asnfs)deletionLikely pathogenic, Pathogenicrs80357596GRCh37Chr 17, 41244866: 41244869
264BRCA1NM_007294.3(BRCA1): c.2707_2708insAT (p.Cys903Tyrfs)insertionPathogenicrs80357717GRCh37Chr 17, 41244840: 41244841
265BRCA1NM_007294.3(BRCA1): c.2710G> T (p.Glu904Ter)single nucleotide variantPathogenicrs80357035GRCh37Chr 17, 41244838: 41244838
266BRCA1NM_007294.3(BRCA1): c.2806_2809delGATA (p.Asp936Serfs)deletionPathogenicrs80357832GRCh37Chr 17, 41244739: 41244742
267BRCA1NM_007294.3(BRCA1): c.2864_2865insT (p.Ser956Ilefs)insertionPathogenicrs397507205GRCh37Chr 17, 41244683: 41244684
268BRCA1NM_007294.3(BRCA1): c.2934T> G (p.Tyr978Ter)single nucleotide variantPathogenicrs80357115GRCh37Chr 17, 41244614: 41244614
269BRCA1NM_007294.3(BRCA1): c.2981_2982delGT (p.Cys994Terfs)deletionPathogenicrs397507207GRCh37Chr 17, 41244566: 41244567
270BRCA1NM_007294.3(BRCA1): c.302-2A> Csingle nucleotide variantPathogenicrs80358011GRCh37Chr 17, 41256280: 41256280
271BRCA1NM_007294.3(BRCA1): c.302-3C> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs80358051GRCh37Chr 17, 41256281: 41256281
272BRCA1NM_007294.3(BRCA1): c.3037_3038delGA (p.Glu1013Asnfs)deletionPathogenicrs397507208GRCh37Chr 17, 41244510: 41244511
273BRCA1NM_007294.3(BRCA1): c.3052_3053ins5insertionPathogenicrs80357856GRCh37Chr 17, 41244495: 41244496
274BRCA1NM_007294.3(BRCA1): c.3112G> T (p.Glu1038Ter)single nucleotide variantPathogenicrs80357161GRCh37Chr 17, 41244436: 41244436
275BRCA1NM_007294.3(BRCA1): c.3164_3165ins4insertionPathogenicrs587777910GRCh37Chr 17, 41244383: 41244384
276BRCA1NM_007294.3(BRCA1): c.3174delT (p.Asn1059Metfs)deletionPathogenicrs397507210GRCh37Chr 17, 41244374: 41244374
277BRCA1NM_007294.3(BRCA1): c.3228_3229delAG (p.Gly1077Alafs)deletionLikely pathogenic, Pathogenicrs80357635GRCh37Chr 17, 41244319: 41244320
278BRCA1NM_007294.3(BRCA1): c.329delA (p.Lys110Argfs)deletionPathogenicrs397507214GRCh37Chr 17, 41256251: 41256251
279BRCA1NM_007294.3(BRCA1): c.3331_3334delCAAG (p.Gln1111Asnfs)deletionPathogenicrs80357701GRCh37Chr 17, 41244214: 41244217
280BRCA1NM_007294.3(BRCA1): c.3352C> T (p.Gln1118Ter)single nucleotide variantPathogenicrs397507215GRCh37Chr 17, 41244196: 41244196
281BRCA1NM_007294.3(BRCA1): c.3358_3359delGT (p.Val1120Terfs)deletionPathogenicrs80357945GRCh37Chr 17, 41244189: 41244190
282BRCA1NM_007294.3(BRCA1): c.3389C> G (p.Ser1130Ter)single nucleotide variantPathogenicrs80357405GRCh37Chr 17, 41244159: 41244159
283BRCA1NM_007294.3(BRCA1): c.3400G> T (p.Glu1134Ter)single nucleotide variantPathogenicrs80357018GRCh37Chr 17, 41244148: 41244148
284BRCA1NM_007294.3(BRCA1): c.3442delG (p.Glu1148Argfs)deletionPathogenicrs80357808GRCh37Chr 17, 41244106: 41244106
285BRCA1NM_007294.3(BRCA1): c.3485delA (p.Asp1162Valfs)deletionPathogenicrs80357509GRCh37Chr 17, 41244063: 41244063
286BRCA1NM_007294.3(BRCA1): c.3503delA (p.Asn1168Metfs)deletionPathogenicrs397507216GRCh37Chr 17, 41244045: 41244045
287BRCA1NM_007294.3(BRCA1): c.3612delA (p.Ala1206Profs)deletionPathogenicrs80357980GRCh37Chr 17, 41243936: 41243936
288BRCA1NM_007294.3(BRCA1): c.3627dupA (p.Glu1210Argfs)duplicationPathogenicrs80357729GRCh37Chr 17, 41243921: 41243921
289BRCA1NM_007294.3(BRCA1): c.3648dupA (p.Ser1217Ilefs)duplicationPathogenicrs80357902GRCh37Chr 17, 41243900: 41243900
290BRCA1NM_007294.3(BRCA1): c.3671_3672ins4insertionPathogenicrs80357797GRCh37Chr 17, 41243876: 41243877
291BRCA1NM_007294.3(BRCA1): c.3683delA (p.His1228Profs)deletionPathogenicrs397507217GRCh37Chr 17, 41243865: 41243865
292BRCA1NM_007294.3(BRCA1): c.3689T> G (p.Leu1230Ter)single nucleotide variantPathogenicrs80357162GRCh37Chr 17, 41243859: 41243859
293BRCA1NM_007294.3(BRCA1): c.3700_3704delGTAAA (p.Val1234Glnfs)deletionPathogenicrs80357609GRCh37Chr 17, 41243844: 41243848
294BRCA1NM_007294.3(BRCA1): c.3759_3760delTA (p.Lys1254Glufs)deletionPathogenicrs80357520GRCh37Chr 17, 41243788: 41243789
295BRCA1NM_007294.3(BRCA1): c.3764dupA (p.Asn1255Lysfs)duplicationPathogenicrs80357848GRCh37Chr 17, 41243784: 41243784
296BRCA1NM_007294.3(BRCA1): c.3770_3771delAG (p.Glu1257Glyfs)deletionPathogenicrs80357579GRCh37Chr 17, 41243777: 41243778
297BRCA1NM_007294.3(BRCA1): c.3771_3772delGGinsC (p.Glu1257Aspfs)indelPathogenicrs397507218GRCh37Chr 17, 41243776: 41243777
298BRCA1NM_007294.3(BRCA1): c.3825dupA (p.Leu1276Ilefs)duplicationPathogenicrs397507220GRCh37Chr 17, 41243723: 41243723
299BRCA1NM_007294.3(BRCA1): c.3852_3853insAC (p.Leu1285Thrfs)insertionPathogenicrs397507221GRCh37Chr 17, 41243695: 41243696
300BRCA1NM_007294.3(BRCA1): c.3852delC (p.Ser1286Valfs)deletionPathogenicrs397507222GRCh37Chr 17, 41243696: 41243696
301BRCA1NM_007294.3(BRCA1): c.3858_3861delTGAG (p.Ser1286Argfs)deletionPathogenicrs80357842GRCh37Chr 17, 41243687: 41243690
302BRCA1NM_007294.3(BRCA1): c.3868A> T (p.Lys1290Ter)single nucleotide variantPathogenicrs80357254GRCh37Chr 17, 41243680: 41243680
303BRCA1NM_007294.3(BRCA1): c.3937C> T (p.Gln1313Ter)single nucleotide variantPathogenicrs80357318GRCh37Chr 17, 41243611: 41243611
304BRCA1NM_007294.3(BRCA1): c.3991C> T (p.Gln1331Ter)single nucleotide variantPathogenicrs397507224GRCh37Chr 17, 41243557: 41243557
305BRCA1NM_007294.3(BRCA1): c.4015G> T (p.Glu1339Ter)single nucleotide variantPathogenicrs80357021GRCh37Chr 17, 41243533: 41243533
306BRCA1NM_007294.3(BRCA1): c.4035delA (p.Glu1346Lysfs)deletionPathogenicrs80357711GRCh37Chr 17, 41243513: 41243513
307BRCA1NM_007294.3(BRCA1): c.4096+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs80358178GRCh37Chr 17, 41243451: 41243451
308BRCA1NM_007294.3(BRCA1): c.4096+3A> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs80358015GRCh37Chr 17, 41243449: 41243449
309BRCA1NM_007294.3(BRCA1): c.4097-1G> Asingle nucleotide variantPathogenicrs80358070GRCh37Chr 17, 41243050: 41243050
310BRCA1NM_007294.3(BRCA1): c.4116_4117delTG (p.Cys1372Terfs)deletionPathogenicrs80357804GRCh37Chr 17, 41243029: 41243030
311BRCA1NM_007294.3(BRCA1): c.4117G> T (p.Glu1373Ter)single nucleotide variantPathogenicrs80357259GRCh37Chr 17, 41243029: 41243029
312BRCA1NM_007294.3(BRCA1): c.4120_4121delAG (p.Ser1374Terfs)deletionPathogenicrs80357787GRCh37Chr 17, 41243025: 41243026
313BRCA1NM_007294.3(BRCA1): c.4148C> G (p.Ser1383Ter)single nucleotide variantPathogenicrs80357071GRCh37Chr 17, 41242998: 41242998
314BRCA1NM_007294.3(BRCA1): c.4185+2_4185+22del21insAindelPathogenicrs273900724GRCh37Chr 17, 41242939: 41242959
315BRCA1NM_007294.3(BRCA1): c.4243delG (p.Glu1415Lysfs)deletionPathogenicrs80357981GRCh37Chr 17, 41234535: 41234535
316BRCA1NM_007294.3(BRCA1): c.4251_4252delGT (p.Leu1418Argfs)deletionPathogenicrs80357977GRCh37Chr 17, 41234526: 41234527
317BRCA1NM_007294.3(BRCA1): c.427G> T (p.Glu143Ter)single nucleotide variantPathogenicrs80356991GRCh37Chr 17, 41256153: 41256153
318BRCA1NM_007294.3(BRCA1): c.4357+1G> Asingle nucleotide variantPathogenicrs80358027GRCh37Chr 17, 41234420: 41234420
319BRCA1NM_007294.3(BRCA1): c.4387delT (p.Tyr1463Thrfs)deletionPathogenicrs397507229GRCh37Chr 17, 41228602: 41228602
320BRCA1NM_007294.3(BRCA1): c.4388_4389ins7insertionPathogenicrs587777911GRCh37Chr 17, 41228600: 41228601
321BRCA1NM_007294.3(BRCA1): c.4391_4393delCTAinsTT (p.Pro1464Leufs)indelPathogenicrs273900730GRCh37Chr 17, 41228596: 41228598
322BRCA1NM_007294.3(BRCA1): c.4391delC (p.Pro1464Leufs)deletionPathogenicrs80357916GRCh37Chr 17, 41228598: 41228598
323BRCA1NM_007294.3(BRCA1): c.4393delA (p.Ile1465Terfs)deletionPathogenicrs397507230GRCh37Chr 17, 41228596: 41228596
324BRCA1NM_007294.3(BRCA1): c.4427dupA (p.Phe1477Valfs)duplicationPathogenicrs397507231GRCh37Chr 17, 41228562: 41228562
325BRCA1NM_007294.3(BRCA1): c.4482_4483delAA (p.Arg1495Valfs)deletionPathogenicrs80357854GRCh37Chr 17, 41228506: 41228507
326BRCA1NM_007294.3(BRCA1): c.4484+1G> Asingle nucleotide variantPathogenicrs80358063GRCh37Chr 17, 41228504: 41228504
327BRCA1NM_007294.3(BRCA1): c.4484G> A (p.Arg1495Lys)single nucleotide variantPathogenicrs80357389GRCh37Chr 17, 41228505: 41228505
328BRCA1NM_007294.3(BRCA1): c.4484G> T (p.Arg1495Met)single nucleotide variantPathogenicrs80357389GRCh37Chr 17, 41228505: 41228505
329BRCA1NM_007294.3(BRCA1): c.466dupC (p.Leu156Profs)duplicationPathogenicrs397507236GRCh37Chr 17, 41251873: 41251873
330BRCA1NM_007294.3(BRCA1): c.4675G> A (p.Glu1559Lys)single nucleotide variantPathogenicrs80356988GRCh37Chr 17, 41226348: 41226348
331BRCA1NM_007294.3(BRCA1): c.4675G> C (p.Glu1559Gln)single nucleotide variantLikely pathogenic, Pathogenicrs80356988GRCh37Chr 17, 41226348: 41226348
332BRCA1NM_007294.3(BRCA1): c.4689C> G (p.Tyr1563Ter)single nucleotide variantPathogenicrs80357433GRCh37Chr 17, 41223242: 41223242
333BRCA1NM_007294.3(BRCA1): c.470_471delCT (p.Ser157Terfs)deletionPathogenicrs80357887GRCh37Chr 17, 41251868: 41251869
334BRCA1NM_007294.3(BRCA1): c.4749_4750delAG (p.Arg1583Serfs)deletionPathogenicrs80357641GRCh37Chr 17, 41223181: 41223182
335BRCA1NM_007294.3(BRCA1): c.4775_4779delACATAinsC (p.Asn1592Thrfs)indelPathogenicrs397507237GRCh37Chr 17, 41223152: 41223156
336BRCA1NM_007294.3(BRCA1): c.4868C> G (p.Ala1623Gly)single nucleotide variantLikely pathogenic, Pathogenicrs80356862GRCh37Chr 17, 41223063: 41223063
337BRCA1NM_007294.3(BRCA1): c.4964_4982del19 (p.Ser1655Tyrfs)deletionLikely pathogenic, Pathogenicrs80359876GRCh37Chr 17, 41222949: 41222967
338BRCA1NM_007294.3(BRCA1): c.4986+1G> Tsingle nucleotide variantPathogenicrs80358162GRCh37Chr 17, 41222944: 41222944
339BRCA1NM_007294.3(BRCA1): c.4986+4A> Csingle nucleotide variantPathogenicrs80358087GRCh37Chr 17, 41222941: 41222941
340BRCA1NM_007294.3(BRCA1): c.4986+6T> Csingle nucleotide variantLikely pathogenic, Pathogenicrs80358086GRCh37Chr 17, 41222939: 41222939
341BRCA1NM_007294.3(BRCA1): c.5030_5033delCTAA (p.Thr1677Ilefs)deletionPathogenicrs80357580GRCh37Chr 17, 41219666: 41219669
342BRCA1NM_007294.3(BRCA1): c.5035_5039delCTAAT (p.Leu1679Tyrfs)deletionPathogenicrs80357623GRCh37Chr 17, 41219660: 41219664
343BRCA1NM_007294.3(BRCA1): c.5066T> G (p.Met1689Arg)single nucleotide variantPathogenicrs80357061GRCh37Chr 17, 41219633: 41219633
344BRCA1NM_007294.3(BRCA1): c.5068A> T (p.Lys1690Ter)single nucleotide variantPathogenicrs397507239GRCh37Chr 17, 41219631: 41219631
345BRCA1NM_007294.3(BRCA1): c.5074+1G> Asingle nucleotide variantPathogenicrs80358053GRCh37Chr 17, 41219624: 41219624
346BRCA1NM_007294.3(BRCA1): c.5074+1G> Tsingle nucleotide variantLikely pathogenic, Pathogenicrs80358053GRCh37Chr 17, 41219624: 41219624
347BRCA1NM_007294.3(BRCA1): c.5074+2T> Csingle nucleotide variantPathogenicrs80358089GRCh37Chr 17, 41219623: 41219623
348BRCA1NM_007294.3(BRCA1): c.5074G> A (p.Asp1692Asn)single nucleotide variantLikely pathogenic, Pathogenicrs80187739GRCh37Chr 17, 41219625: 41219625
349BRCA1NM_007294.3(BRCA1): c.5074G> C (p.Asp1692His)single nucleotide variantPathogenicrs80187739GRCh37Chr 17, 41219625: 41219625
350BRCA1NM_007294.3(BRCA1): c.5096G> A (p.Arg1699Gln)single nucleotide variantLikely pathogenic, Pathogenicrs41293459GRCh37Chr 17, 41215947: 41215947
351BRCA1NM_007294.3(BRCA1): c.5117G> A (p.Gly1706Glu)single nucleotide variantPathogenicrs80356860GRCh37Chr 17, 41215926: 41215926
352BRCA1NM_007294.3(BRCA1): c.5152+1G> Csingle nucleotide variantPathogenicrs80358094GRCh37Chr 17, 41215890: 41215890
353BRCA1NM_007294.3(BRCA1): c.5153-1G> Csingle nucleotide variantPathogenicrs80358137GRCh37Chr 17, 41215391: 41215391
354BRCA1NM_007294.3(BRCA1): c.5177_5180delGAAA (p.Arg1726Lysfs)deletionPathogenicrs80357867GRCh37Chr 17, 41215363: 41215366
355BRCA1NM_007294.3(BRCA1): c.5179A> T (p.Lys1727Ter)single nucleotide variantPathogenicrs80357347GRCh37Chr 17, 41215364: 41215364
356BRCA1NM_007294.3(BRCA1): c.5194-2A> Gsingle nucleotide variantPathogenicrs80358069GRCh37Chr 17, 41209154: 41209154
357BRCA1NM_007294.3(BRCA1): c.5207T> C (p.Val1736Ala)single nucleotide variantLikely pathogenic, Pathogenicrs45553935GRCh37Chr 17, 41209139: 41209139
358BRCA1NM_007294.3(BRCA1): c.5232_5238delAAACCACins12 (p.?)indelPathogenicrs483353071GRCh37Chr 17, 41209108: 41209114
359BRCA1NM_007294.3(BRCA1): c.5259delA (p.Glu1754Asnfs)deletionPathogenicrs80357925GRCh37Chr 17, 41209087: 41209087
360BRCA1NM_007294.3(BRCA1): c.5277+1G> Asingle nucleotide variantPathogenicrs80358150GRCh37Chr 17, 41209068: 41209068
361BRCA1NM_007294.3(BRCA1): c.5289dupG (p.Leu1764Alafs)duplicationPathogenicrs80357886GRCh37Chr 17, 41203123: 41203123
362BRCA1NM_007294.3(BRCA1): c.5297T> G (p.Ile1766Ser)single nucleotide variantPathogenicrs80357463GRCh37Chr 17, 41203115: 41203115
363BRCA1NM_007294.3(BRCA1): c.5335delC (p.Gln1779Asnfs)deletionPathogenicrs80357590GRCh37Chr 17, 41201209: 41201209
364BRCA1NM_007294.3(BRCA1): c.5346G> A (p.Trp1782Ter)single nucleotide variantPathogenicrs80357284GRCh37Chr 17, 41201198: 41201198
365BRCA1NM_007294.3(BRCA1): c.5363G> T (p.Gly1788Val)single nucleotide variantPathogenicrs80357069GRCh37Chr 17, 41201181: 41201181
366BRCA1NM_007294.3(BRCA1): c.5386delT (p.Ser1796Hisfs)deletionPathogenicrs397507249GRCh37Chr 17, 41201158: 41201158
367BRCA1NM_007294.3(BRCA1): c.5387C> A (p.Ser1796Ter)single nucleotide variantPathogenicrs80357055GRCh37Chr 17, 41201157: 41201157
368BRCA1NM_007294.3(BRCA1): c.53T> C (p.Met18Thr)single nucleotide variantLikely pathogenicrs80356929GRCh37Chr 17, 41276061: 41276061
369BRCA1NM_007294.3(BRCA1): c.5406+1G> Asingle nucleotide variantPathogenicrs80358028GRCh37Chr 17, 41201137: 41201137
370BRCA1NM_007294.3(BRCA1): c.5406+5G> Tsingle nucleotide variantLikely pathogenic, Pathogenicrs80358073GRCh37Chr 17, 41201133: 41201133
371BRCA1NM_007294.3(BRCA1): c.5417delC (p.Pro1806Glnfs)deletionPathogenicrs80357558GRCh37Chr 17, 41199710: 41199710
372BRCA1NM_007294.3(BRCA1): c.5453A> G (p.Asp1818Gly)single nucleotide variantPathogenicrs80357477GRCh37Chr 17, 41199674: 41199674
373BRCA1NM_007294.3(BRCA1): c.5467+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs80358145GRCh37Chr 17, 41199659: 41199659
374BRCA1NM_007294.3(BRCA1): c.547+2T> Asingle nucleotide variantPathogenicrs80358047GRCh37Chr 17, 41251790: 41251790
375BRCA1NM_007294.3(BRCA1): c.5509T> C (p.Trp1837Arg)single nucleotide variantLikely pathogenicrs80356959GRCh37Chr 17, 41197778: 41197778
376BRCA1NM_007294.3(BRCA1): c.5578dupC (p.His1860Profs)duplicationLikely pathogenicrs397507254GRCh37Chr 17, 41197709: 41197709
377BRCA1NM_007294.3(BRCA1): c.594-2A> Csingle nucleotide variantLikely pathogenic, Pathogenicrs80358033GRCh37Chr 17, 41247941: 41247941
378BRCA1NM_007294.3(BRCA1): c.66dupA (p.Glu23Argfs)duplicationPathogenicrs80357783GRCh37Chr 17, 41276048: 41276048
379BRCA1NM_007294.3(BRCA1): c.676delT (p.Cys226Valfs)deletionPathogenicrs80357941GRCh37Chr 17, 41246872: 41246872
380BRCA1NM_007294.3(BRCA1): c.697_698delGT (p.Val233Asnfs)deletionPathogenicrs80357747GRCh37Chr 17, 41246850: 41246851
381BRCA1NM_007294.3(BRCA1): c.783T> G (p.Tyr261Ter)single nucleotide variantPathogenicrs80357321GRCh37Chr 17, 41246765: 41246765
382BRCA1NM_007294.3(BRCA1): c.798_799delTT (p.Ser267Lysfs)deletionLikely pathogenic, Pathogenicrs80357724GRCh37Chr 17, 41246749: 41246750
383BRCA1NM_007294.3(BRCA1): c.824_825ins10 (p.?)insertionPathogenicrs387906563GRCh37Chr 17, 41246723: 41246724
384BRCA1NM_007294.3(BRCA1): c.85G> T (p.Glu29Ter)single nucleotide variantPathogenicrs80357443GRCh37Chr 17, 41267792: 41267792
385BRCA1NM_007294.3(BRCA1): c.929delA (p.Gln310Argfs)deletionPathogenicrs80357844GRCh37Chr 17, 41246619: 41246619
386BRCA1NM_007294.3(BRCA1): c.952_1015del64 (p.His318Argfs)deletionPathogenicrs80359872GRCh37Chr 17, 41246533: 41246596
387BRCA1NM_007294.3(BRCA1): c.962G> A (p.Trp321Ter)single nucleotide variantPathogenicrs80357292GRCh37Chr 17, 41246586: 41246586
388BRCA2NM_000059.3(BRCA2): c.5035delA (p.Thr1679Leufs)deletionPathogenicrs80359477GRCh37Chr 13, 32913527: 32913527
389BRCA2NM_000059.3(BRCA2): c.8297delC (p.Thr2766Asnfs)deletionPathogenicrs80359705GRCh37Chr 13, 32937636: 32937636
390BRCA2NM_000059.3(BRCA2): c.9097dupA (p.Thr3033Asnfs)duplicationPathogenicrs397507419GRCh37Chr 13, 32954030: 32954030
391BRCA2NM_000059.3(BRCA2): c.9294C> G (p.Tyr3098Ter)single nucleotide variantPathogenicrs80359200GRCh37Chr 13, 32968863: 32968863
392BRCA2NM_000059.3(BRCA2): c.9435_9436delGT (p.Ser3147Cysfs)deletionPathogenicrs80359763GRCh37Chr 13, 32969004: 32969005
393BRCA2NM_000059.3(BRCA2): c.5130_5133delTGTA (p.Tyr1710Terfs)deletionPathogenicrs80359484GRCh37Chr 13, 32913622: 32913625
394BRCA2NM_000059.3(BRCA2): c.7558C> T (p.Arg2520Ter)single nucleotide variantPathogenicrs80358981GRCh37Chr 13, 32930687: 32930687
395BRCA2NM_000059.3(BRCA2): c.9154C> T (p.Arg3052Trp)single nucleotide variantPathogenicrs45580035GRCh37Chr 13, 32954180: 32954180
396BRCA1NM_007294.3(BRCA1): c.1008dupA (p.Glu337Argfs)duplicationPathogenicrs67284603GRCh37Chr 17, 41246540: 41246540
397BRCA1NM_007294.3(BRCA1): c.1011dupA (p.Val340Glyfs)duplicationPathogenicrs80357569GRCh37Chr 17, 41246532: 41246532
398BRCA1NM_007294.3(BRCA1): c.101delC (p.Pro34Leufs)deletionPathogenicrs80357750GRCh37Chr 17, 41267776: 41267776
399BRCA1NM_007294.3(BRCA1): c.1045G> T (p.Glu349Ter)single nucleotide variantPathogenicrs80357338GRCh37Chr 17, 41246503: 41246503
400BRCA1NM_007294.3(BRCA1): c.1054G> T (p.Glu352Ter)single nucleotide variantPathogenicrs80357472GRCh37Chr 17, 41246494: 41246494
401BRCA1NM_007294.3(BRCA1): c.1058G> A (p.Trp353Ter)single nucleotide variantPathogenicrs80356908GRCh37Chr 17, 41246490: 41246490
402BRCA1NM_007294.3(BRCA1): c.1059G> A (p.Trp353Ter)single nucleotide variantPathogenicrs80356935GRCh37Chr 17, 41246489: 41246489
403BRCA1NM_007294.3(BRCA1): c.1066C> T (p.Gln356Ter)single nucleotide variantPathogenicrs80357215GRCh37Chr 17, 41246482: 41246482
404BRCA1NM_007294.3(BRCA1): c.1067delA (p.Gln356Argfs)deletionPathogenicrs80357796GRCh37Chr 17, 41246481: 41246481
405BRCA1NM_007294.3(BRCA1): c.1072delC (p.Leu358Cysfs)deletionPathogenicrs80357836GRCh37Chr 17, 41246476: 41246476
406BRCA1NM_007294.3(BRCA1): c.1082_1092delCAGAGAATCCT (p.Ser361Terfs)deletionPathogenicrs80359880GRCh37Chr 17, 41246456: 41246466
407BRCA1NM_007294.3(BRCA1): c.1086_1087delGA (p.Asn363Serfs)deletionPathogenicrs80357897GRCh37Chr 17, 41246461: 41246462
408BRCA1NM_007294.3(BRCA1): c.1088delA (p.Asn363Ilefs)deletionPathogenicrs80357954GRCh37Chr 17, 41246460: 41246460
409BRCA1NM_007294.3(BRCA1): c.1102G> T (p.Glu368Ter)single nucleotide variantPathogenicrs80357139GRCh37Chr 17, 41246446: 41246446
410BRCA1NM_007294.3(BRCA1): c.110C> A (p.Thr37Lys)single nucleotide variantPathogenicrs80356880GRCh37Chr 17, 41267767: 41267767
411BRCA1NM_007294.3(BRCA1): c.110C> G (p.Thr37Arg)single nucleotide variantLikely pathogenicrs80356880GRCh37Chr 17, 41267767: 41267767
412BRCA1NM_007294.3(BRCA1): c.1116G> A (p.Trp372Ter)single nucleotide variantPathogenicrs80357468GRCh37Chr 17, 41246432: 41246432
413BRCA1NM_007294.3(BRCA1): c.1121_1123delCACinsT (p.Thr374Ilefs)indelPathogenicrs273897652GRCh37Chr 17, 41246425: 41246427
414BRCA1NM_007294.3(BRCA1): c.1127delA (p.Asn376Ilefs)deletionPathogenicrs80357821GRCh37Chr 17, 41246421: 41246421
415BRCA1NM_007294.3(BRCA1): c.112_113delAA (p.Lys38Valfs)deletionPathogenicrs80357949GRCh37Chr 17, 41267764: 41267765
416BRCA1NM_007294.3(BRCA1): c.1141A> T (p.Lys381Ter)single nucleotide variantPathogenicrs80357385GRCh37Chr 17, 41246407: 41246407
417BRCA1NM_007294.3(BRCA1): c.115T> C (p.Cys39Arg)single nucleotide variantPathogenicrs80357164GRCh37Chr 17, 41267762: 41267762
418BRCA1NM_007294.3(BRCA1): c.1165delA (p.Ser389Valfs)deletionPathogenicrs80357985GRCh37Chr 17, 41246383: 41246383
419BRCA1NM_007294.3(BRCA1): c.1166delG (p.Ser389Metfs)deletionPathogenicrs273897653GRCh37Chr 17, 41246382: 41246382
420BRCA1NM_007294.3(BRCA1): c.117_118delTG (p.Cys39Terfs)deletionPathogenicrs80357972GRCh37Chr 17, 41267759: 41267760
421BRCA1NM_007294.3(BRCA1): c.1193C> G (p.Ser398Ter)single nucleotide variantPathogenicrs80357068GRCh37Chr 17, 41246355: 41246355
422BRCA1NM_007294.3(BRCA1): c.1204delG (p.Glu402Serfs)deletionPathogenicrs80357859GRCh37Chr 17, 41246344: 41246344
423BRCA1NM_007294.3(BRCA1): c.1214C> A (p.Ser405Ter)single nucleotide variantPathogenicrs80357481GRCh37Chr 17, 41246334: 41246334
424BRCA1NM_007294.3(BRCA1): c.122A> G (p.His41Arg)single nucleotide variantPathogenicrs80357276GRCh37Chr 17, 41267755: 41267755
425BRCA1NM_007294.3(BRCA1): c.1240_1246delGACGTTC (p.Asp414Terfs)deletionPathogenicrs80357964GRCh37Chr 17, 41246302: 41246308
426BRCA1NM_007294.3(BRCA1): c.1241dupA (p.Asp414Glufs)duplicationPathogenicrs80357514GRCh37Chr 17, 41246307: 41246307
427BRCA1NM_007294.3(BRCA1): c.124delA (p.Ile42Tyrfs)deletionPathogenicrs80357943GRCh37Chr 17, 41267753: 41267753
428BRCA1NM_007294.3(BRCA1): c.1252G> T (p.Glu418Ter)single nucleotide variantPathogenicrs80357083GRCh37Chr 17, 41246296: 41246296
429BRCA1NM_007294.3(BRCA1): c.1255delG (p.Val419Terfs)deletionPathogenicrs80357535GRCh37Chr 17, 41246293: 41246293
430BRCA1NM_007294.3(BRCA1): c.1265dupA (p.Tyr422Terfs)duplicationPathogenicrs80357809GRCh37Chr 17, 41246283: 41246283
431BRCA1NM_007294.3(BRCA1): c.1266T> G (p.Tyr422Ter)single nucleotide variantPathogenicrs80357417GRCh37Chr 17, 41246282: 41246282
432BRCA1NM_007294.3(BRCA1): c.1276delT (p.Ser426Glnfs)deletionPathogenicrs80357766GRCh37Chr 17, 41246272: 41246272
433BRCA1NM_007294.3(BRCA1): c.1287dupA (p.Asp430Argfs)duplicationPathogenicrs80357576GRCh37Chr 17, 41246261: 41246261
434BRCA1NM_007294.3(BRCA1): c.1292T> G (p.Leu431Ter)single nucleotide variantPathogenicrs80357346GRCh37Chr 17, 41246256: 41246256
435BRCA1NM_007294.3(BRCA1): c.1292dupT (p.Leu431Phefs)duplicationPathogenicrs80357528GRCh37Chr 17, 41246256: 41246256
436BRCA1NM_007294.3(BRCA1): c.1297delG (p.Ala433Profs)deletionPathogenicrs80357794GRCh37Chr 17, 41246251: 41246251
437BRCA1NM_007294.3(BRCA1): c.130T> A (p.Cys44Ser)single nucleotide variantPathogenicrs80357327GRCh37Chr 17, 41267747: 41267747
438BRCA1NM_007294.3(BRCA1): c.130delT (p.Cys44Alafs)deletionPathogenicrs80357951GRCh37Chr 17, 41267747: 41267747
439BRCA1NM_007294.3(BRCA1): c.1319delT (p.Leu440Terfs)deletionPathogenicrs80357683GRCh37Chr 17, 41246229: 41246229
440BRCA1NM_007294.3(BRCA1): c.131G> A (p.Cys44Tyr)single nucleotide variantPathogenicrs80357446GRCh37Chr 17, 41267746: 41267746
441BRCA1NM_007294.3(BRCA1): c.131G> T (p.Cys44Phe)single nucleotide variantPathogenicrs80357446GRCh37Chr 17, 41267746: 41267746
442BRCA1NM_007294.3(BRCA1): c.1323_1324delAT (p.Ile441Metfs)deletionPathogenicrs80357570GRCh37Chr 17, 41246224: 41246225
443BRCA1NM_007294.3(BRCA1): c.1333G> T (p.Glu445Ter)single nucleotide variantPathogenicrs80356915GRCh37Chr 17, 41246215: 41246215
444BRCA1NM_007294.3(BRCA1): c.1335_1336delAA (p.Arg446Serfs)deletionPathogenicrs80357978GRCh37Chr 17, 41246212: 41246213
445BRCA1NM_007294.3(BRCA1): c.134+1G> Tsingle nucleotide variantPathogenicrs80358043GRCh37Chr 17, 41267742: 41267742
446BRCA1NM_007294.3(BRCA1): c.134+2T> Gsingle nucleotide variantPathogenicrs80358131GRCh37Chr 17, 41267741: 41267741
447BRCA1NM_007294.3(BRCA1): c.135-1G> Csingle nucleotide variantPathogenicrs80358158GRCh37Chr 17, 41258551: 41258551
448BRCA1NM_007294.3(BRCA1): c.1352C> A (p.Ser451Ter)single nucleotide variantPathogenicrs80356891GRCh37Chr 17, 41246196: 41246196
449BRCA1NM_007294.3(BRCA1): c.1352C> G (p.Ser451Ter)single nucleotide variantPathogenicrs80356891GRCh37Chr 17, 41246196: 41246196
450BRCA1NM_007294.3(BRCA1): c.1380dupA (p.Phe461Ilefs)duplicationPathogenicrs80357714GRCh37Chr 17, 41246168: 41246168
451BRCA1NM_007294.3(BRCA1): c.1383delT (p.Phe461Leufs)deletionPathogenicrs80357879GRCh37Chr 17, 41246165: 41246165
452BRCA1NM_007294.3(BRCA1): c.1386delG (p.Thr464Profs)deletionPathogenicrs80357722GRCh37Chr 17, 41246162: 41246162
453BRCA1NM_007294.3(BRCA1): c.1390delA (p.Thr464Profs)deletionPathogenicrs80357770GRCh37Chr 17, 41246158: 41246158
454BRCA1NM_007294.3(BRCA1): c.1399A> T (p.Lys467Ter)single nucleotide variantPathogenicrs80357279GRCh37Chr 17, 41246149: 41246149
455BRCA1NM_007294.3(BRCA1): c.1421T> G (p.Leu474Ter)single nucleotide variantPathogenicrs80357490GRCh37Chr 17, 41246127: 41246127
456BRCA1NM_007294.3(BRCA1): c.1439dupA (p.Asn480Lysfs)duplicationPathogenicrs80357505GRCh37Chr 17, 41246109: 41246109
457BRCA1NM_007294.3(BRCA1): c.1444delA (p.Ile482Leufs)deletionPathogenicrs80357648GRCh37Chr 17, 41246104: 41246104
458BRCA1NM_007294.3(BRCA1): c.144delG (p.Met48Ilefs)deletionPathogenicrs80357682GRCh37Chr 17, 41258541: 41258541
459BRCA1NM_007294.3(BRCA1): c.1450G> T (p.Gly484Ter)single nucleotide variantPathogenicrs80357304GRCh37Chr 17, 41246098: 41246098
460BRCA1NM_007294.3(BRCA1): c.1471C> T (p.Gln491Ter)single nucleotide variantPathogenicrs62625303GRCh37Chr 17, 41246077: 41246077
461BRCA1NM_007294.3(BRCA1): c.1492delC (p.Leu498Serfs)deletionPathogenicrs80357527GRCh37Chr 17, 41246056: 41246056
462BRCA1NM_007294.3(BRCA1): c.1497_1500delAAAT (p.Lys501Terfs)deletionPathogenicrs80357632GRCh37Chr 17, 41246048: 41246051
463BRCA1NM_007294.3(BRCA1): c.1508delA (p.Lys503Serfs)deletionPathogenicrs80357506GRCh37Chr 17, 41246040: 41246040
464BRCA1NM_007294.3(BRCA1): c.150delA (p.Lys50Asnfs)deletionPathogenicrs273897662GRCh37Chr 17, 41258535: 41258535
465BRCA1NM_007294.3(BRCA1): c.1511dupG (p.Lys505Terfs)duplicationPathogenicrs80357817GRCh37Chr 17, 41246037: 41246037
466BRCA1NM_007294.3(BRCA1): c.1523delC (p.Pro508Leufs)deletionPathogenicrs80357782GRCh37Chr 17, 41246025: 41246025
467BRCA1NM_007294.3(BRCA1): c.1529C> G (p.Ser510Ter)single nucleotide variantPathogenicrs80357427GRCh37Chr 17, 41246019: 41246019
468BRCA1NM_007294.3(BRCA1): c.1530delA (p.Gly511Alafs)deletionPathogenicrs80357735GRCh37Chr 17, 41246018: 41246018
469BRCA1NM_007294.3(BRCA1): c.1551delT (p.Phe517Leufs)deletionPathogenicrs80357630GRCh37Chr 17, 41245997: 41245997
470BRCA1NM_007294.3(BRCA1): c.1576C> T (p.Gln526Ter)single nucleotide variantPathogenicrs80356984GRCh37Chr 17, 41245972: 41245972
471BRCA1NM_007294.3(BRCA1): c.1583_1589delCTCCTGA (p.Thr528Lysfs)deletionPathogenicrs80357613GRCh37Chr 17, 41245959: 41245965
472BRCA1NM_007294.3(BRCA1): c.1608_1611delTAAC (p.Asn537Lysfs)deletionPathogenicrs80357698GRCh37Chr 17, 41245937: 41245940
473BRCA1NM_007294.3(BRCA1): c.160C> T (p.Gln54Ter)single nucleotide variantPathogenicrs80356864GRCh37Chr 17, 41258525: 41258525
474BRCA1NM_007294.3(BRCA1): c.1612C> T (p.Gln538Ter)single nucleotide variantPathogenicrs80356893GRCh37Chr 17, 41245936: 41245936
475BRCA1NM_007294.3(BRCA1): c.1621C> T (p.Gln541Ter)single nucleotide variantPathogenicrs80356904GRCh37Chr 17, 41245927: 41245927
476BRCA1NM_007294.3(BRCA1): c.1630C> T (p.Gln544Ter)single nucleotide variantPathogenicrs80356952GRCh37Chr 17, 41245918: 41245918
477BRCA1NM_007294.3(BRCA1): c.1636_1654del19 (p.Met546Valfs)deletionPathogenicrs80359881GRCh37Chr 17, 41245894: 41245912
478BRCA1NM_007294.3(BRCA1): c.1649delA (p.Asn550Ilefs)deletionPathogenicrs80357619GRCh37Chr 17, 41245899: 41245899
479BRCA1NM_007294.3(BRCA1): c.1713_1717delAGAAT (p.Glu572Thrfs)deletionPathogenicrs80357640GRCh37Chr 17, 41245831: 41245835
480BRCA1NM_007294.3(BRCA1): c.1729_1730delGA (p.Glu577Ilefs)deletionPathogenicrs80357834GRCh37Chr 17, 41245818: 41245819
481BRCA1NM_007294.3(BRCA1): c.1747A> T (p.Lys583Ter)single nucleotide variantPathogenicrs80356928GRCh37Chr 17, 41245801: 41245801
482BRCA1NM_007294.3(BRCA1): c.1757delC (p.Pro586Leufs)deletionPathogenicrs80357723GRCh37Chr 17, 41245791: 41245791
483BRCA1NM_007294.3(BRCA1): c.1772delT (p.Ile591Lysfs)deletionPathogenicrs80357901GRCh37Chr 17, 41245776: 41245776
484BRCA1NM_007294.3(BRCA1): c.1789G> T (p.Glu597Ter)single nucleotide variantPathogenicrs55650082GRCh37Chr 17, 41245759: 41245759
485BRCA1NM_007294.3(BRCA1): c.178C> T (p.Gln60Ter)single nucleotide variantPathogenicrs80357471GRCh37Chr 17, 41258507: 41258507
486BRCA1NM_007294.3(BRCA1): c.1793T> A (p.Leu598Ter)single nucleotide variantPathogenicrs80357118GRCh37Chr 17, 41245755: 41245755
487BRCA1NM_007294.3(BRCA1): c.1793T> G (p.Leu598Ter)single nucleotide variantPathogenicrs80357118GRCh37Chr 17, 41245755: 41245755
488BRCA1NM_007294.3(BRCA1): c.179delA (p.Gln60Argfs)deletionPathogenicrs80357591GRCh37Chr 17, 41258506: 41258506
489BRCA1NM_007294.3(BRCA1): c.1819A> T (p.Lys607Ter)single nucleotide variantPathogenicrs80357220GRCh37Chr 17, 41245729: 41245729
490BRCA1NM_007294.3(BRCA1): c.1823_1826delAGAA (p.Lys608Ilefs)deletionPathogenicrs80357585GRCh37Chr 17, 41245722: 41245725
491BRCA1NM_007294.3(BRCA1): c.1825delA (p.Asn609Ilefs)deletionPathogenicrs80357736GRCh37Chr 17, 41245723: 41245723
492BRCA1NM_007294.3(BRCA1): c.182G> A (p.Cys61Tyr)single nucleotide variantPathogenicrs80357093GRCh37Chr 17, 41258503: 41258503
493BRCA1NM_007294.3(BRCA1): c.182_183delGT (p.Cys61Serfs)deletionLikely pathogenicrs397508912GRCh37Chr 17, 41258502: 41258503
494BRCA1NM_007294.3(BRCA1): c.1837delA (p.Arg613Glyfs)deletionPathogenicrs80357652GRCh37Chr 17, 41245711: 41245711
495BRCA1NM_007294.3(BRCA1): c.1840A> T (p.Lys614Ter)single nucleotide variantPathogenicrs80357282GRCh37Chr 17, 41245708: 41245708
496BRCA1NM_007294.3(BRCA1): c.1870G> T (p.Glu624Ter)single nucleotide variantPathogenicrs80356950GRCh37Chr 17, 41245678: 41245678
497BRCA1NM_007294.3(BRCA1): c.1874_1877dupTAGT (p.Val627Serfs)duplicationPathogenicrs80357516GRCh37Chr 17, 41245671: 41245674
498BRCA1NM_007294.3(BRCA1): c.1881_1884delCAGT (p.Ser628Glufs)deletionPathogenicrs80357567GRCh37Chr 17, 41245664: 41245667
499BRCA1NM_007294.3(BRCA1): c.188T> A (p.Leu63Ter)single nucleotide variantPathogenicrs80357086GRCh37Chr 17, 41258497: 41258497
500BRCA1NM_007294.3(BRCA1): c.1892dupT (p.Ser632Lysfs)duplicationPathogenicrs80357932GRCh37Chr 17, 41245656: 41245656
501BRCA1NM_007294.3(BRCA1): c.1898delC (p.Pro633Hisfs)deletionPathogenicrs80357851GRCh37Chr 17, 41245650: 41245650
502BRCA1NM_007294.3(BRCA1): c.189dupA (p.Cys64Metfs)duplicationPathogenicrs273897665GRCh37Chr 17, 41258496: 41258496
503BRCA1NM_007294.3(BRCA1): c.190T> C (p.Cys64Arg)single nucleotide variantPathogenicrs80357064GRCh37Chr 17, 41258495: 41258495
504BRCA1NM_007294.3(BRCA1): c.1912G> T (p.Glu638Ter)single nucleotide variantPathogenicrs80357005GRCh37Chr 17, 41245636: 41245636
505BRCA1NM_007294.3(BRCA1): c.1912delG (p.Glu638Asnfs)deletionPathogenicrs80357933GRCh37Chr 17, 41245636: 41245636
506BRCA1NM_007294.3(BRCA1): c.1916T> A (p.Leu639Ter)single nucleotide variantPathogenicrs80357267GRCh37Chr 17, 41245632: 41245632
507BRCA1NM_007294.3(BRCA1): c.191G> A (p.Cys64Tyr)single nucleotide variantPathogenicrs55851803GRCh37Chr 17, 41258494: 41258494
508BRCA1NM_007294.3(BRCA1): c.1945G> T (p.Glu649Ter)single nucleotide variantPathogenicrs80356907GRCh37Chr 17, 41245603: 41245603
509BRCA1NM_007294.3(BRCA1): c.1952dupA (p.Lys652Glufs)duplicationPathogenicrs80357885GRCh37Chr 17, 41245596: 41245596
510BRCA1NM_007294.3(BRCA1): c.1953dupG (p.Lys652Glufs)duplicationPathogenicrs80357753GRCh37Chr 17, 41245595: 41245595
511BRCA1NM_007294.3(BRCA1): c.195delG (p.Asn66Metfs)deletionPathogenicrs80357869GRCh37Chr 17, 41258490: 41258490
512BRCA1NM_007294.3(BRCA1): c.1960_1961delAA (p.Lys654Valfs)deletionPathogenicrs80357643GRCh37Chr 17, 41245587: 41245588
513BRCA1NM_007294.3(BRCA1): c.1961dupA (p.Tyr655Valfs)duplicationPathogenicrs80357853GRCh37Chr 17, 41245587: 41245587
514BRCA1NM_007294.3(BRCA1): c.1996delC (p.Leu666Tyrfs)deletionPathogenicrs80357922GRCh37Chr 17, 41245552: 41245552
515BRCA1NM_007294.3(BRCA1): c.1999C> T (p.Gln667Ter)single nucleotide variantPathogenicrs80356889GRCh37Chr 17, 41245549: 41245549
516BRCA1NM_007294.3(BRCA1): c.1A> G (p.Met1Val)single nucleotide variantPathogenicrs80357287GRCh37Chr 17, 41276113: 41276113
517BRCA1NM_007294.3(BRCA1): c.2017G> T (p.Glu673Ter)single nucleotide variantPathogenicrs80357391GRCh37Chr 17, 41245531: 41245531
518BRCA1NM_007294.3(BRCA1): c.2017delG (p.Glu673Asnfs)deletionPathogenicrs80357638GRCh37Chr 17, 41245531: 41245531
519BRCA1NM_007294.3(BRCA1): c.2019delA (p.Glu673Aspfs)deletionPathogenicrs80357626GRCh37Chr 17, 41245529: 41245529
520BRCA1NM_007294.3(BRCA1): c.2035A> T (p.Lys679Ter)single nucleotide variantPathogenicrs80357082GRCh37Chr 17, 41245513: 41245513
521BRCA1NM_007294.3(BRCA1): c.2059C> T (p.Gln687Ter)single nucleotide variantPathogenicrs273898674GRCh37Chr 17, 41245489: 41245489
522BRCA1NM_007294.3(BRCA1): c.2074delC (p.His692Metfs)deletionPathogenicrs80357554GRCh37Chr 17, 41245474: 41245474
523BRCA1NM_007294.3(BRCA1): c.2079_2080delCA (p.Asp693Glufs)deletionPathogenicrs80357773GRCh37Chr 17, 41245468: 41245469
524BRCA1NM_007294.3(BRCA1): c.2105T> G (p.Leu702Ter)single nucleotide variantPathogenicrs80357298GRCh37Chr 17, 41245443: 41245443
525BRCA1NM_007294.3(BRCA1): c.2110_2111delAA (p.Asn704Cysfs)deletionPathogenicrs80357814GRCh37Chr 17, 41245437: 41245438
526BRCA1NM_007294.3(BRCA1): c.212+1G> Csingle nucleotide variantPathogenicrs80358042GRCh37Chr 17, 41258472: 41258472
527BRCA1NM_007294.3(BRCA1): c.212+1G> Tsingle nucleotide variantPathogenicrs80358042GRCh37Chr 17, 41258472: 41258472
528BRCA1NM_007294.3(BRCA1): c.212+2T> Csingle nucleotide variantPathogenicrs80358026GRCh37Chr 17, 41258471: 41258471
529BRCA1NM_007294.3(BRCA1): c.212+3A> Gsingle nucleotide variantPathogenicrs80358083GRCh37Chr 17, 41258470: 41258470
530BRCA1NM_007294.3(BRCA1): c.2125_2126insA (p.Phe709Tyrfs)insertionPathogenicrs80357871GRCh37Chr 17, 41245422: 41245423
531BRCA1NM_007294.3(BRCA1): c.212G> A (p.Arg71Lys)single nucleotide variantPathogenicrs80356913GRCh37Chr 17, 41258473: 41258473
532BRCA1NM_007294.3(BRCA1): c.213-1G> Asingle nucleotide variantPathogenicrs80358146GRCh37Chr 17, 41256974: 41256974
533BRCA1NM_007294.3(BRCA1): c.2142delT (p.Asn714Lysfs)deletionPathogenicrs273898679GRCh37Chr 17, 41245406: 41245406
534BRCA1NM_007294.3(BRCA1): c.2157dupA (p.Glu720Argfs)duplicationPathogenicrs80357715GRCh37Chr 17, 41245391: 41245391
535BRCA1NM_007294.3(BRCA1): c.2176delC (p.Leu726Phefs)deletionPathogenicrs80357668GRCh37Chr 17, 41245372: 41245372
536BRCA1NM_007294.3(BRCA1): c.2188G> T (p.Glu730Ter)single nucleotide variantPathogenicrs80357058GRCh37Chr 17, 41245360: 41245360
537BRCA1NM_007294.3(BRCA1): c.2188_2201delGAAAAAGAAGAGAA (p.Glu730Thrfs)deletionPathogenicrs273898681GRCh37Chr 17, 41245347: 41245360
538BRCA1NM_007294.3(BRCA1): c.2194G> T (p.Glu732Ter)single nucleotide variantPathogenicrs80357426GRCh37Chr 17, 41245354: 41245354
539BRCA1NM_007294.3(BRCA1): c.2197G> T (p.Glu733Ter)single nucleotide variantPathogenicrs397508949GRCh37Chr 17, 41245351: 41245351
540BRCA1NM_007294.3(BRCA1): c.2197_2201delGAGAA (p.Glu733Thrfs)deletionPathogenicrs80357507GRCh37Chr 17, 41245347: 41245351
541BRCA1NM_007294.3(BRCA1): c.2202delA (p.Lys734Asnfs)deletionPathogenicrs80357982GRCh37Chr 17, 41245346: 41245346
542BRCA1NM_007294.3(BRCA1): c.2203delC (p.Leu735Terfs)deletionPathogenicrs80357936GRCh37Chr 17, 41245345: 41245345
543BRCA1NM_007294.3(BRCA1): c.2206delG (p.Glu736Lysfs)deletionPathogenicrs80357860GRCh37Chr 17, 41245342: 41245342
544BRCA1NM_007294.3(BRCA1): c.220C> T (p.Gln74Ter)single nucleotide variantPathogenicrs80357234GRCh37Chr 17, 41256966: 41256966
545BRCA1NM_007294.3(BRCA1): c.2210delC (p.Thr737Lysfs)deletionPathogenicrs80357793GRCh37Chr 17, 41245338: 41245338
546BRCA1NM_007294.3(BRCA1): c.2215A> T (p.Lys739Ter)single nucleotide variantPathogenicrs56329598GRCh37Chr 17, 41245333: 41245333
547BRCA1NM_007294.3(BRCA1): c.2236dupG (p.Asp746Glyfs)duplicationPathogenicrs80357909GRCh37Chr 17, 41245312: 41245312
548BRCA1NM_007294.3(BRCA1): c.2241delC (p.Asp749Ilefs)deletionPathogenicrs80357650GRCh37Chr 17, 41245307: 41245307
549BRCA1NM_007294.3(BRCA1): c.2241dupC (p.Lys748Glnfs)duplicationPathogenicrs397508953GRCh37Chr 17, 41245307: 41245307
550BRCA1NM_007294.3(BRCA1): c.224_227delAAAG (p.Glu75Valfs)deletionPathogenicrs80357697GRCh37Chr 17, 41256959: 41256962
551BRCA1NM_007294.3(BRCA1): c.2253_2254delGT (p.Met751Ilefs)deletionPathogenicrs80357602GRCh37Chr 17, 41245294: 41245295
552BRCA1NM_007294.3(BRCA1): c.2263G> T (p.Glu755Ter)single nucleotide variantPathogenicrs41286296GRCh37Chr 17, 41245285: 41245285
553BRCA1NM_007294.3(BRCA1): c.2263delG (p.Glu755Lysfs)deletionPathogenicrs80357960GRCh37Chr 17, 41245285: 41245285
554BRCA1NM_007294.3(BRCA1): c.2275C> T (p.Gln759Ter)single nucleotide variantPathogenicrs80356999GRCh37Chr 17, 41245273: 41245273
555BRCA1NM_007294.3(BRCA1): c.2283_2284delAA (p.Arg762Ilefs)deletionPathogenicrs80357657GRCh37Chr 17, 41245264: 41245265
556BRCA1NM_007294.3(BRCA1): c.2293G> T (p.Glu765Ter)single nucleotide variantPathogenicrs80357449GRCh37Chr 17, 41245255: 41245255
557BRCA1NM_007294.3(BRCA1): c.2309C> A (p.Ser770Ter)single nucleotide variantPathogenicrs80357063GRCh37Chr 17, 41245239: 41245239
558BRCA1NM_007294.3(BRCA1): c.2314delG (p.Val772Tyrfs)deletionPathogenicrs80357957GRCh37Chr 17, 41245234: 41245234
559BRCA1NM_007294.3(BRCA1): c.2329delT (p.Tyr777Metfs)deletionPathogenicrs80357725GRCh37Chr 17, 41245219: 41245219
560BRCA1NM_007294.3(BRCA1): c.232delA (p.Arg78Aspfs)deletionPathogenicrs80357884GRCh37Chr 17, 41256954: 41256954
561BRCA1NM_007294.3(BRCA1): c.2331T> A (p.Tyr777Ter)single nucleotide variantPathogenicrs80357444GRCh37Chr 17, 41245217: 41245217
562BRCA1NM_007294.3(BRCA1): c.2338C> T (p.Gln780Ter)single nucleotide variantPathogenicrs80356945GRCh37Chr 17, 41245210: 41245210
563BRCA1NM_007294.3(BRCA1): c.2351_2357delCGTTACT (p.Ser784Trpfs)deletionPathogenicrs80357820GRCh37Chr 17, 41245191: 41245197
564BRCA1NM_007294.3(BRCA1): c.2359dupG (p.Glu787Glyfs)duplicationPathogenicrs80357739GRCh37Chr 17, 41245189: 41245189
565BRCA1NM_007294.3(BRCA1): c.2389_2390delGA (p.Glu797Thrfs)deletionPathogenicrs80357695GRCh37Chr 17, 41245158: 41245159
566BRCA1NM_007294.3(BRCA1): c.2390_2391delAA (p.Glu797Alafs)deletionPathogenicrs80357546GRCh37Chr 17, 41245157: 41245158
567BRCA1NM_007294.3(BRCA1): c.2393delC (p.Pro798Glnfs)deletionPathogenicrs80357850GRCh37Chr 17, 41245155: 41245155
568BRCA1NM_007294.3(BRCA1): c.2403T> A (p.Cys801Ter)single nucleotide variantPathogenicrs80357381GRCh37Chr 17, 41245145: 41245145
569BRCA1NM_007294.3(BRCA1): c.2405_2406delTG (p.Val802Glufs)deletionPathogenicrs80357706GRCh37Chr 17, 41245142: 41245143
570BRCA1NM_007294.3(BRCA1): c.2406_2409delGAGT (p.Gln804Valfs)deletionPathogenicrs80357674GRCh37Chr 17, 41245139: 41245142
571BRCA1NM_007294.3(BRCA1): c.2410C> T (p.Gln804Ter)single nucleotide variantPathogenicrs80356982GRCh37Chr 17, 41245138: 41245138
572BRCA1NM_007294.3(BRCA1): c.241C> T (p.Gln81Ter)single nucleotide variantPathogenicrs80357350GRCh37Chr 17, 41256945: 41256945
573BRCA1NM_007294.3(BRCA1): c.2437G> T (p.Gly813Ter)single nucleotide variantPathogenicrs80357186GRCh37Chr 17, 41245111: 41245111
574BRCA1NM_007294.3(BRCA1): c.2443delA (p.Ile815Phefs)deletionPathogenicrs80357598GRCh37Chr 17, 41245105: 41245105
575BRCA1NM_007294.3(BRCA1): c.2450delG (p.Gly817Valfs)deletionPathogenicrs80357679GRCh37Chr 17, 41245098: 41245098
576BRCA1NM_007294.3(BRCA1): c.2468delG (p.Arg823Lysfs)deletionPathogenicrs80357799GRCh37Chr 17, 41245080: 41245080
577BRCA1NM_007294.3(BRCA1): c.2476delA (p.Thr826Glnfs)deletionPathogenicrs80357631GRCh37Chr 17, 41245072: 41245072
578BRCA1NM_007294.3(BRCA1): c.2477_2478delCA (p.Thr826Argfs)deletionPathogenicrs80357800GRCh37Chr 17, 41245070: 41245071
579BRCA1NM_007294.3(BRCA1): c.2477delC (p.Thr826Lysfs)deletionPathogenicrs80357740GRCh37Chr 17, 41245071: 41245071
580BRCA1NM_007294.3(BRCA1): c.2487delT (p.Phe829Leufs)deletionPathogenicrs80357658GRCh37Chr 17, 41245061: 41245061
581BRCA1NM_007294.3(BRCA1): c.2513delA (p.Asn838Thrfs)deletionPathogenicrs80357863GRCh37Chr 17, 41245035: 41245035
582BRCA1NM_007294.3(BRCA1): c.2517_2518delCA (p.His839Glnfs)deletionPathogenicrs397508974GRCh37Chr 17, 41245030: 41245031
583BRCA1NM_007294.3(BRCA1): c.2545G> T (p.Glu849Ter)single nucleotide variantPathogenicrs80356951GRCh37Chr 17, 41245003: 41245003
584BRCA1NM_007294.3(BRCA1): c.2558dupA (p.Asp853Glufs)duplicationPathogenicrs80357835GRCh37Chr 17, 41244990: 41244990
585BRCA1NM_007294.3(BRCA1): c.2560_2561dupGC (p.Gln855Leufs)duplicationPathogenicrs80357968GRCh37Chr 17, 41244987: 41244988
586BRCA1NM_007294.3(BRCA1): c.2568T> G (p.Tyr856Ter)single nucleotide variantPathogenicrs80356832GRCh37Chr 17, 41244980: 41244980
587BRCA1NM_007294.3(BRCA1): c.2594delA (p.Lys865Serfs)deletionPathogenicrs80357756GRCh37Chr 17, 41244954: 41244954
588BRCA1NM_007294.3(BRCA1): c.2611_2612delCC (p.Pro871Valfs)deletionPathogenicrs80357962GRCh37Chr 17, 41244936: 41244937
589BRCA1NM_007294.3(BRCA1): c.2612_2613insT (p.Phe872Valfs)insertionPathogenicrs80357948GRCh37Chr 17, 41244935: 41244936
590BRCA1NM_007294.3(BRCA1): c.2617dupT (p.Ser873Phefs)duplicationPathogenicrs80357912GRCh37Chr 17, 41244932: 41244932
591BRCA1NM_007294.3(BRCA1): c.2646_2648delTGC (p.Cys882_Ser1217delinsTer)deletionPathogenicrs80357513GRCh37Chr 17, 41244900: 41244902
592BRCA1NM_007294.3(BRCA1): c.2670delG (p.Ser891Profs)deletionPathogenicrs80357659GRCh37Chr 17, 41244878: 41244878
593BRCA1NM_007294.3(BRCA1): c.2675_2678delTAAA (p.Leu892Terfs)deletionPathogenicrs80357518GRCh37Chr 17, 41244870: 41244873
594BRCA1NM_007294.3(BRCA1): c.2685_2686delAA (p.Pro897Lysfs)deletionPathogenicrs80357636GRCh37Chr 17, 41244862: 41244863
595BRCA1NM_007294.3(BRCA1): c.2694dupA (p.Val899Serfs)duplicationPathogenicrs80357549GRCh37Chr 17, 41244854: 41244854
596BRCA1NM_007294.3(BRCA1): c.269_281delTTTGTGCTTTTCA (p.Ile90Serfs)deletionPathogenicrs80359879GRCh37Chr 17, 41256905: 41256917
597BRCA1NM_007294.3(BRCA1): c.2702_2703delTT (p.Phe901Terfs)deletionPathogenicrs80357899GRCh37Chr 17, 41244845: 41244846
598BRCA1NM_007294.3(BRCA1): c.2709delT (p.Cys903Trpfs)deletionPathogenicrs80357594GRCh37Chr 17, 41244839: 41244839
599BRCA1NM_007294.3(BRCA1): c.2719_2722delGAAG (p.Glu907Lysfs)deletionPathogenicrs80357731GRCh37Chr 17, 41244826: 41244829
600BRCA1NM_007294.3(BRCA1): c.2722G> T (p.Glu908Ter)single nucleotide variantPathogenicrs80356978GRCh37Chr 17, 41244826: 41244826
601BRCA1NM_007294.3(BRCA1): c.2726_2730delATCAA (p.Asn909Argfs)deletionPathogenicrs80357712GRCh37Chr 17, 41244818: 41244822
602BRCA1NM_007294.3(BRCA1): c.2726delA (p.Asn909Ilefs)deletionPathogenicrs80357614GRCh37Chr 17, 41244822: 41244822
603BRCA1NM_007294.3(BRCA1): c.2726dupA (p.Asn909Lysfs)duplicationPathogenicrs80357685GRCh37Chr 17, 41244822: 41244822
604BRCA1NM_007294.3(BRCA1): c.2727_2730delTCAA (p.Asn909Lysfs)deletionPathogenicrs80357605GRCh37Chr 17, 41244818: 41244821
605BRCA1NM_007294.3(BRCA1): c.2740G> T (p.Glu914Ter)single nucleotide variantPathogenicrs80357419GRCh37Chr 17, 41244808: 41244808
606BRCA1NM_007294.3(BRCA1): c.2744_2745delCT (p.Ser915Terfs)deletionPathogenicrs80357540GRCh37Chr 17, 41244803: 41244804
607BRCA1NM_007294.3(BRCA1): c.2749dupA (p.Ile917Asnfs)duplicationPathogenicrs80357942GRCh37Chr 17, 41244799: 41244799
608BRCA1NM_007294.3(BRCA1): c.2761C> T (p.Gln921Ter)single nucleotide variantPathogenicrs80357377GRCh37Chr 17, 41244787: 41244787
609BRCA1NM_007294.3(BRCA1): c.2762delA (p.Gln921Argfs)deletionPathogenicrs80357703GRCh37Chr 17, 41244786: 41244786
610BRCA1NM_007294.3(BRCA1): c.2764_2767delACAG (p.Thr922Leufs)deletionPathogenicrs80357822GRCh37Chr 17, 41244781: 41244784
611BRCA1NM_007294.3(BRCA1): c.2766delA (p.Val923Leufs)deletionPathogenicrs80357812GRCh37Chr 17, 41244782: 41244782
612BRCA1NM_007294.3(BRCA1): c.2767_2770delGTTA (p.Val923Ilefs)deletionPathogenicrs80357661GRCh37Chr 17, 41244778: 41244781
613BRCA1NM_007294.3(BRCA1): c.2796_2799delTGGT (p.Gly933Argfs)deletionPathogenicrs80357840GRCh37Chr 17, 41244749: 41244752
614BRCA1NM_007294.3(BRCA1): c.2800C> T (p.Gln934Ter)single nucleotide variantPathogenicrs80357223GRCh37Chr 17, 41244748: 41244748
615BRCA1NM_007294.3(BRCA1): c.2805delA (p.Asp936Ilefs)deletionPathogenicrs397509012GRCh37Chr 17, 41244743: 41244743
616BRCA1NM_007294.3(BRCA1): c.2812_2813delCCinsG (p.Pro938Glufs)indelPathogenicrs273899689GRCh37Chr 17, 41244735: 41244736
617BRCA1NM_007294.3(BRCA1): c.2832T> A (p.Cys944Ter)single nucleotide variantPathogenicrs80357458GRCh37Chr 17, 41244716: 41244716
618BRCA1NM_007294.3(BRCA1): c.2834_2836delGTAinsC (p.Ser945Thrfs)indelPathogenicrs386134270GRCh37Chr 17, 41244712: 41244714
619BRCA1NM_007294.3(BRCA1): c.2835dupT (p.Ile946Tyrfs)duplicationPathogenicrs80357519GRCh37Chr 17, 41244713: 41244713
620BRCA1NM_007294.3(BRCA1): c.2840_2841delAA (p.Lys947Argfs)deletionPathogenicrs80357984GRCh37Chr 17, 41244707: 41244708
621BRCA1NM_007294.3(BRCA1): c.2864C> A (p.Ser955Ter)single nucleotide variantPathogenicrs80357295GRCh37Chr 17, 41244684: 41244684
622BRCA1NM_007294.3(BRCA1): c.2866_2870delTCTCA (p.Ser956Valfs)deletionPathogenicrs80357819GRCh37Chr 17, 41244678: 41244682
623BRCA1NM_007294.3(BRCA1): c.2869C> T (p.Gln957Ter)single nucleotide variantPathogenicrs80356973GRCh37Chr 17, 41244679: 41244679
624BRCA1NM_007294.3(BRCA1): c.2887delA (p.Thr963Leufs)deletionPathogenicrs80357559GRCh37Chr 17, 41244661: 41244661
625BRCA1NM_007294.3(BRCA1): c.290_291delCA (p.Thr97Argfs)deletionPathogenicrs80357738GRCh37Chr 17, 41256895: 41256896
626BRCA1NM_007294.3(BRCA1): c.2910delA (p.Lys970Asnfs)deletionPathogenicrs80357893GRCh37Chr 17, 41244638: 41244638
627BRCA1NM_007294.3(BRCA1): c.2915delG (p.Gly972Aspfs)deletionPathogenicrs80357573GRCh37Chr 17, 41244633: 41244633
628BRCA1NM_007294.3(BRCA1): c.2920_2921delTT (p.Leu974Thrfs)deletionPathogenicrs80357611GRCh37Chr 17, 41244627: 41244628
629BRCA1NM_007294.3(BRCA1): c.2921T> A (p.Leu974Ter)single nucleotide variantPathogenicrs80356872GRCh37Chr 17, 41244627: 41244627
630BRCA1NM_007294.3(BRCA1): c.2923C> T (p.Gln975Ter)single nucleotide variantPathogenicrs80357497GRCh37Chr 17, 41244625: 41244625
631BRCA1NM_007294.3(BRCA1): c.2934delT (p.Arg979Valfs)deletionPathogenicrs80357741GRCh37Chr 17, 41244614: 41244614
632BRCA1NM_007294.3(BRCA1): c.2952delT (p.Ile986Serfs)deletionPathogenicrs80357627GRCh37Chr 17, 41244596: 41244596
633BRCA1NM_007294.3(BRCA1): c.2955delC (p.Ile986Serfs)deletionPathogenicrs397509027GRCh37Chr 17, 41244593: 41244593
634BRCA1NM_007294.3(BRCA1): c.2980delT (p.Cys994Valfs)deletionPathogenicrs80357502GRCh37Chr 17, 41244568: 41244568
635BRCA1NM_007294.3(BRCA1): c.2989_2990dupAA (p.Asn997Lysfs)duplicationPathogenicrs80357829GRCh37Chr 17, 41244558: 41244559
636BRCA1NM_007294.3(BRCA1): c.2999delA (p.Glu1000Glyfs)deletionPathogenicrs80357991GRCh37Chr 17, 41244549: 41244549
637BRCA1NM_007294.3(BRCA1): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs80357111GRCh37Chr 17, 41276112: 41276112
638BRCA1NM_007294.3(BRCA1): c.2T> G (p.Met1Arg)single nucleotide variantPathogenicrs80357111GRCh37Chr 17, 41276112: 41276112
639BRCA1NM_007294.3(BRCA1): c.3008_3009delTT (p.Phe1003Terfs)deletionPathogenicrs80357617GRCh37Chr 17, 41244539: 41244540
640BRCA1NM_007294.3(BRCA1): c.3013delG (p.Glu1005Asnfs)deletionPathogenicrs80357937GRCh37Chr 17, 41244535: 41244535
641BRCA1NM_007294.3(BRCA1): c.3018_3021delTTCA (p.His1006Glnfs)deletionPathogenicrs80357749GRCh37Chr 17, 41244527: 41244530
642BRCA1NM_007294.3(BRCA1): c.302-1G> Asingle nucleotide variantPathogenicrs80358116GRCh37Chr 17, 41256279: 41256279
643BRCA1NM_007294.3(BRCA1): c.302-1G> Csingle nucleotide variantPathogenicrs80358116GRCh37Chr 17, 41256279: 41256279
644BRCA1NM_007294.3(BRCA1): c.302-2delAdeletionPathogenicrs273899695GRCh37Chr 17, 41256280: 41256280
645BRCA1NM_007294.3(BRCA1): c.3020C> G (p.Ser1007Ter)single nucleotide variantPathogenicrs80357168GRCh37Chr 17, 41244528: 41244528
646BRCA1NM_007294.3(BRCA1): c.3026C> A (p.Ser1009Ter)single nucleotide variantPathogenicrs273899696GRCh37Chr 17, 41244522: 41244522
647BRCA1NM_007294.3(BRCA1): c.3029_3030delCT (p.Pro1010Argfs)deletionPathogenicrs80357510GRCh37Chr 17, 41244518: 41244519
648BRCA1NM_007294.3(BRCA1): c.303T> G (p.Tyr101Ter)single nucleotide variantPathogenicrs80356936GRCh37Chr 17, 41256277: 41256277
649BRCA1NM_007294.3(BRCA1): c.3048_3052dupTGAGA (p.Asn1018Metfs)duplicationPathogenicrs80357856GRCh37Chr 17, 41244496: 41244500
650BRCA1NM_007294.3(BRCA1): c.3049G> T (p.Glu1017Ter)single nucleotide variantPathogenicrs80357004GRCh37Chr 17, 41244499: 41244499
651BRCA1NM_007294.3(BRCA1): c.3084_3094delTAATAACATTA (p.Asn1029Argfs)deletionPathogenicrs80357647GRCh37Chr 17, 41244454: 41244464
652BRCA1NM_007294.3(BRCA1): c.3097G> T (p.Glu1033Ter)single nucleotide variantPathogenicrs273899698GRCh37Chr 17, 41244451: 41244451
653BRCA1NM_007294.3(BRCA1): c.3107_3112delTTAAAG (p.Phe1036_Cys1372delinsTer)deletionPathogenicrs80357920GRCh37Chr 17, 41244436: 41244441
654BRCA1NM_007294.3(BRCA1): c.3108delT (p.Phe1036Leufs)deletionPathogenicrs80357841GRCh37Chr 17, 41244440: 41244440
655BRCA1NM_007294.3(BRCA1): c.3108dupT (p.Lys1037Terfs)duplicationPathogenicrs273899699GRCh37Chr 17, 41244440: 41244440
656BRCA1NM_007294.3(BRCA1): c.3178G> T (p.Glu1060Ter)single nucleotide variantPathogenicrs80357424GRCh37Chr 17, 41244370: 41244370
657BRCA1NM_007294.3(BRCA1): c.317delA (p.Asn106Ilefs)deletionPathogenicrs80357950GRCh37Chr 17, 41256263: 41256263
658BRCA1NM_007294.3(BRCA1): c.3181delA (p.Ile1061Terfs)deletionPathogenicrs80357702GRCh37Chr 17, 41244367: 41244367
659BRCA1NM_007294.3(BRCA1): c.3188_3189delCCinsG (p.Ser1063Terfs)indelPathogenicrs273899701GRCh37Chr 17, 41244359: 41244360
660BRCA1NM_007294.3(BRCA1): c.3193dupG (p.Asp1065Glyfs)duplicationPathogenicrs80357511GRCh37Chr 17, 41244355: 41244355
661BRCA1NM_007294.3(BRCA1): c.321delT (p.Phe107Leufs)deletionPathogenicrs80357544GRCh37Chr 17, 41256259: 41256259
662BRCA1NM_007294.3(BRCA1): c.3226delA (p.Arg1076Glufs)deletionPathogenicrs273899703GRCh37Chr 17, 41244322: 41244322
663BRCA1NM_007294.3(BRCA1): c.3239T> A (p.Leu1080Ter)single nucleotide variantPathogenicrs80357145GRCh37Chr 17, 41244309: 41244309
664BRCA1NM_007294.3(BRCA1): c.3253dupA (p.Arg1085Lysfs)duplicationPathogenicrs80357517GRCh37Chr 17, 41244295: 41244295
665BRCA1NM_007294.3(BRCA1): c.3254_3255dupGA (p.Leu1086Aspfs)duplicationPathogenicrs80357624GRCh37Chr 17, 41244293: 41244294
666BRCA1NM_007294.3(BRCA1): c.3255dupA (p.Leu1086Ilefs)duplicationPathogenicrs80357624GRCh37Chr 17, 41244293: 41244293
667BRCA1NM_007294.3(BRCA1): c.3257T> A (p.Leu1086Ter)single nucleotide variantPathogenicrs80357006GRCh37Chr 17, 41244291: 41244291
668BRCA1NM_007294.3(BRCA1): c.3257T> G (p.Leu1086Ter)single nucleotide variantPathogenicrs80357006GRCh37Chr 17, 41244291: 41244291
669BRCA1NM_007294.3(BRCA1): c.3257dupT (p.Leu1086Phefs)duplicationPathogenicrs80357858GRCh37Chr 17, 41244291: 41244291
670BRCA1NM_007294.3(BRCA1): c.3268C> T (p.Gln1090Ter)single nucleotide variantPathogenicrs80357402GRCh37Chr 17, 41244280: 41244280
671BRCA1NM_007294.3(BRCA1): c.3279delC (p.Tyr1094Ilefs)deletionPathogenicrs397509050GRCh37Chr 17, 41244269: 41244269
672BRCA1NM_007294.3(BRCA1): c.3285delA (p.Lys1095Asnfs)deletionLikely pathogenicrs397509051GRCh37Chr 17, 41244263: 41244263
673BRCA1NM_007294.3(BRCA1): c.3286C> T (p.Gln1096Ter)single nucleotide variantPathogenicrs80357485GRCh37Chr 17, 41244262: 41244262
674BRCA1NM_007294.3(BRCA1): c.3286delC (p.Gln1096Lysfs)deletionPathogenicrs80357533GRCh37Chr 17, 41244262: 41244262
675BRCA1NM_007294.3(BRCA1): c.3288_3289delAA (p.Leu1098Serfs)deletionPathogenicrs80357686GRCh37Chr 17, 41244259: 41244260
676BRCA1NM_007294.3(BRCA1): c.3292_3293delCT (p.Leu1098Serfs)deletionPathogenicrs80357992GRCh37Chr 17, 41244255: 41244256
677BRCA1NM_007294.3(BRCA1): c.3296delC (p.Pro1099Leufs)deletionPathogenicrs80357815GRCh37Chr 17, 41244252: 41244252
678BRCA1NM_007294.3(BRCA1): c.329_330delAG (p.Lys110Argfs)deletionPathogenicrs80357754GRCh37Chr 17, 41256250: 41256251
679BRCA1NM_007294.3(BRCA1): c.329dupA (p.Glu111Glyfs)duplicationPathogenicrs80357604GRCh37Chr 17, 41256251: 41256251
680BRCA1NM_007294.3(BRCA1): c.32_33insC (p.Gln12Thrfs)insertionPathogenicrs80357811GRCh37Chr 17, 41276081: 41276082
681BRCA1NM_007294.3(BRCA1): c.3309T> A (p.Cys1103Ter)single nucleotide variantPathogenicrs80357317GRCh37Chr 17, 41244239: 41244239
682BRCA1NM_007294.3(BRCA1): c.3319G> T (p.Glu1107Ter)single nucleotide variantPathogenicrs80357106GRCh37Chr 17, 41244229: 41244229
683BRCA1NM_007294.3(BRCA1): c.3323_3326delTAAA (p.Ile1108Lysfs)deletionPathogenicrs80357763GRCh37Chr 17, 41244222: 41244225
684BRCA1NM_007294.3(BRCA1): c.3325_3329delAAAAA (p.Lys1109Alafs)deletionPathogenicrs80357680GRCh37Chr 17, 41244219: 41244223
685BRCA1NM_007294.3(BRCA1): c.3326_3329delAAAA (p.Lys1109Serfs)deletionPathogenicrs80357575GRCh37Chr 17, 41244219: 41244222
686BRCA1NM_007294.3(BRCA1): c.3329_3330delAG (p.Lys1110Thrfs)deletionPathogenicrs80357525GRCh37Chr 17, 41244218: 41244219
687BRCA1NM_007294.3(BRCA1): c.3329dupA (p.Gln1111Alafs)duplicationPathogenicrs80357692GRCh37Chr 17, 41244219: 41244219
688BRCA1NM_007294.3(BRCA1): c.3331C> T (p.Gln1111Ter)single nucleotide variantPathogenicrs80357089GRCh37Chr 17, 41244217: 41244217
689BRCA1NM_007294.3(BRCA1): c.3333delA (p.Glu1112Asnfs)deletionPathogenicrs80357966GRCh37Chr 17, 41244215: 41244215
690BRCA1NM_007294.3(BRCA1): c.3339T> G (p.Tyr1113Ter)single nucleotide variantPathogenicrs80357421GRCh37Chr 17, 41244209: 41244209
691BRCA1NM_007294.3(BRCA1): c.3340G> T (p.Glu1114Ter)single nucleotide variantPathogenicrs80357278GRCh37Chr 17, 41244208: 41244208
692BRCA1NM_007294.3(BRCA1): c.3342_3345delAGAA (p.Glu1115Terfs)deletionPathogenicrs397509058GRCh37Chr 17, 41244203: 41244206
693BRCA1NM_007294.3(BRCA1): c.3343delG (p.Glu1115Lysfs)deletionPathogenicrs273899705GRCh37Chr 17, 41244205: 41244205
694BRCA1NM_007294.3(BRCA1): c.3359_3360delTT (p.Val1120Glufs)deletionPathogenicrs80357843GRCh37Chr 17, 41244188: 41244189
695BRCA1NM_007294.3(BRCA1): c.3362delA (p.Asn1121Ilefs)deletionPathogenicrs80357865GRCh37Chr 17, 41244186: 41244186
696BRCA1NM_007294.3(BRCA1): c.3365_3366delCA (p.Thr1122Argfs)deletionPathogenicrs80357892GRCh37Chr 17, 41244182: 41244183
697BRCA1NM_007294.3(BRCA1): c.3375_3376delTC (p.Pro1126Ilefs)deletionPathogenicrs80357828GRCh37Chr 17, 41244172: 41244173
698BRCA1NM_007294.3(BRCA1): c.3390delA (p.Asp1131Ilefs)deletionPathogenicrs80357900GRCh37Chr 17, 41244158: 41244158
699BRCA1NM_007294.3(BRCA1): c.3397_3398delTT (p.Leu1133Argfs)deletionPathogenicrs80357577GRCh37Chr 17, 41244150: 41244151
700BRCA1NM_007294.3(BRCA1): c.3398T> A (p.Leu1133Ter)single nucleotide variantPathogenicrs80356971GRCh37Chr 17, 41244150: 41244150
701BRCA1NM_007294.3(BRCA1): c.3398T> G (p.Leu1133Ter)single nucleotide variantPathogenicrs80356971GRCh37Chr 17, 41244150: 41244150
702BRCA1NM_007294.3(BRCA1): c.3403C> T (p.Gln1135Ter)single nucleotide variantPathogenicrs80357136GRCh37Chr 17, 41244145: 41244145
703BRCA1NM_007294.3(BRCA1): c.3417delT (p.Ser1139Argfs)deletionPathogenicrs273899706GRCh37Chr 17, 41244131: 41244131
704BRCA1NM_007294.3(BRCA1): c.3424G> C (p.Ala1142Pro)single nucleotide variantPathogenicrs80357101GRCh37Chr 17, 41244124: 41244124
705BRCA1NM_007294.3(BRCA1): c.342_343delTC (p.Pro115Terfs)deletionPathogenicrs80357881GRCh37Chr 17, 41256237: 41256238
706BRCA1NM_007294.3(BRCA1): c.3430C> T (p.Gln1144Ter)single nucleotide variantPathogenicrs80357369GRCh37Chr 17, 41244118: 41244118
707BRCA1NM_007294.3(BRCA1): c.3436_3439delTGTT (p.Cys1146Leufs)deletionPathogenicrs397509067GRCh37Chr 17, 41244109: 41244112
708BRCA1NM_007294.3(BRCA1): c.3477_3479delAAAinsC (p.Lys1160Glyfs)indelPathogenicrs273899707GRCh37Chr 17, 41244069: 41244071
709BRCA1NM_007294.3(BRCA1): c.3477_3480delAAAG (p.Ile1159Metfs)deletionPathogenicrs80357781GRCh37Chr 17, 41244068: 41244071
710BRCA1NM_007294.3(BRCA1): c.34C> T (p.Gln12Ter)single nucleotide variantPathogenicrs80357134GRCh37Chr 17, 41276080: 41276080
711BRCA1NM_007294.3(BRCA1): c.3531delT (p.Phe1177Leufs)deletionPathogenicrs80357621GRCh37Chr 17, 41244017: 41244017
712BRCA1NM_007294.3(BRCA1): c.3544C> T (p.Gln1182Ter)single nucleotide variantPathogenicrs80357296GRCh37Chr 17, 41244004: 41244004
713BRCA1NM_007294.3(BRCA1): c.3549_3550delAGinsT (p.Lys1183Asnfs)indelPathogenicrs273899709GRCh37Chr 17, 41243998: 41243999
714BRCA1NM_007294.3(BRCA1): c.3569_3570delCT (p.Pro1190Glnfs)deletionPathogenicrs80357845GRCh37Chr 17, 41243978: 41243979
715BRCA1NM_007294.3(BRCA1): c.3580delA (p.Thr1194Profs)deletionPathogenicrs80357663GRCh37Chr 17, 41243968: 41243968
716BRCA1NM_007294.3(BRCA1): c.3583delC (p.His1195Ilefs)deletionPathogenicrs273900710GRCh37Chr 17, 41243965: 41243965
717BRCA1NM_007294.3(BRCA1): c.3586dupA (p.Thr1196Asnfs)duplicationPathogenicrs80357531GRCh37Chr 17, 41243962: 41243962
718BRCA1NM_007294.3(BRCA1): c.3598C> T (p.Gln1200Ter)single nucleotide variantPathogenicrs62625307GRCh37Chr 17, 41243950: 41243950
719BRCA1NM_007294.3(BRCA1): c.3619A> T (p.Lys1207Ter)single nucleotide variantPathogenicrs80357455GRCh37Chr 17, 41243929: 41243929
720BRCA1NM_007294.3(BRCA1): c.3624dupA (p.Leu1209Ilefs)duplicationPathogenicrs80357512GRCh37Chr 17, 41243924: 41243924
721BRCA1NM_007294.3(BRCA1): c.3626delT (p.Leu1209Terfs)deletionPathogenicrs80357571GRCh37Chr 17, 41243922: 41243922
722BRCA1NM_007294.3(BRCA1): c.3629_3630delAG (p.Glu1210Valfs)deletionPathogenicrs80357589GRCh37Chr 17, 41243918: 41243919
723BRCA1NM_007294.3(BRCA1): c.3640G> T (p.Glu1214Ter)single nucleotide variantLikely pathogenic, Pathogenicrs80356923GRCh37Chr 17, 41243908: 41243908
724BRCA1NM_007294.3(BRCA1): c.3642_3643delGA (p.Asn1215Leufs)deletionPathogenicrs80357805GRCh37Chr 17, 41243905: 41243906
725BRCA1NM_007294.3(BRCA1): c.3661G> T (p.Glu1221Ter)single nucleotide variantPathogenicrs80357310GRCh37Chr 17, 41243887: 41243887
726BRCA1NM_007294.3(BRCA1): c.3664G> T (p.Glu1222Ter)single nucleotide variantPathogenicrs80357356GRCh37Chr 17, 41243884: 41243884
727BRCA1NM_007294.3(BRCA1): c.3668_3671dupTTCC (p.Cys1225Serfs)duplicationPathogenicrs80357797GRCh37Chr 17, 41243877: 41243880
728BRCA1NM_007294.3(BRCA1): c.3676_3679delTTCC (p.Phe1226Asnfs)deletionPathogenicrs80357671GRCh37Chr 17, 41243869: 41243872
729BRCA1NM_007294.3(BRCA1): c.3699delA (p.Val1234Terfs)deletionPathogenicrs80357873GRCh37Chr 17, 41243849: 41243849
730BRCA1NM_007294.3(BRCA1): c.3706_3707delAA (p.Asn1236Tyrfs)deletionPathogenicrs80357666GRCh37Chr 17, 41243841: 41243842
731BRCA1NM_007294.3(BRCA1): c.3706_3713delAATATACC (p.Asn1236Phefs)deletionPathogenicrs80357552GRCh37Chr 17, 41243835: 41243842
732BRCA1NM_007294.3(BRCA1): c.3710delT (p.Ile1237Asnfs)deletionPathogenicrs80357564GRCh37Chr 17, 41243838: 41243838
733BRCA1NM_007294.3(BRCA1): c.3715_3717delTCTinsC (p.Ser1239Profs)indelPathogenicrs273900714GRCh37Chr 17, 41243831: 41243833
734BRCA1NM_007294.3(BRCA1): c.3718C> T (p.Gln1240Ter)single nucleotide variantPathogenicrs80356903GRCh37Chr 17, 41243830: 41243830
735BRCA1NM_007294.3(BRCA1): c.3722_3740del19 (p.Ser1241Leufs)deletionPathogenicrs80359882GRCh37Chr 17, 41243808: 41243826
736BRCA1NM_007294.3(BRCA1): c.3736delA (p.Thr1246Profs)deletionPathogenicrs80357578GRCh37Chr 17, 41243812: 41243812
737BRCA1NM_007294.3(BRCA1): c.3759dupT (p.Lys1254Terfs)duplicationPathogenicrs80357687GRCh37Chr 17, 41243789: 41243789
738BRCA1NM_007294.3(BRCA1): c.3760_3761insT (p.Lys1254Ilefs)insertionPathogenicrs80357986GRCh37Chr 17, 41243787: 41243788
739BRCA1NM_007294.3(BRCA1): c.3762_3763delGA (p.Asn1255Hisfs)deletionPathogenicrs80357645GRCh37Chr 17, 41243785: 41243786
740BRCA1NM_007294.3(BRCA1): c.3779delT (p.Leu1260Tyrfs)deletionPathogenicrs80357798GRCh37Chr 17, 41243769: 41243769
741BRCA1NM_007294.3(BRCA1): c.3782delT (p.Leu1261Tyrfs)deletionPathogenicrs80357545GRCh37Chr 17, 41243766: 41243766
742BRCA1NM_007294.3(BRCA1): c.3785C> A (p.Ser1262Ter)single nucleotide variantPathogenicrs80357269GRCh37Chr 17, 41243763: 41243763
743BRCA1NM_007294.3(BRCA1): c.3794delA (p.Asn1265Ilefs)deletionPathogenicrs80357767GRCh37Chr 17, 41243754: 41243754
744BRCA1NM_007294.3(BRCA1): c.37_40delAATG (p.Asn13Serfs)deletionPathogenicrs80357530GRCh37Chr 17, 41276074: 41276077
745BRCA1NM_007294.3(BRCA1): c.3817C> T (p.Gln1273Ter)single nucleotide variantPathogenicrs80357208GRCh37Chr 17, 41243731: 41243731
746BRCA1NM_007294.3(BRCA1): c.3820dupG (p.Val1274Glyfs)duplicationPathogenicrs80357616GRCh37Chr 17, 41243728: 41243728
747BRCA1NM_007294.3(BRCA1): c.3839_3843delCTCAGinsAGGC (p.Ser1280Terfs)indelPathogenicrs273900717GRCh37Chr 17, 41243705: 41243709
748BRCA1NM_007294.3(BRCA1): c.3841C> T (p.Gln1281Ter)single nucleotide variantPathogenicrs80356866GRCh37Chr 17, 41243707: 41243707
749BRCA1NM_007294.3(BRCA1): c.3841_3842delCA (p.Gln1281Glyfs)deletionPathogenicrs80357584GRCh37Chr 17, 41243706: 41243707
750BRCA1NM_007294.3(BRCA1): c.3856delA (p.Ser1286Valfs)deletionPathogenicrs80357855GRCh37Chr 17, 41243692: 41243692
751BRCA1NM_007294.3(BRCA1): c.3862delG (p.Glu1288Lysfs)deletionPathogenicrs273900718GRCh37Chr 17, 41243686: 41243686
752BRCA1NM_007294.3(BRCA1): c.3869_3870delAA (p.Lys1290Metfs)deletionPathogenicrs80357918GRCh37Chr 17, 41243678: 41243679
753BRCA1NM_007294.3(BRCA1): c.3893C> A (p.Ser1298Ter)single nucleotide variantPathogenicrs80357440GRCh37Chr 17, 41243655: 41243655
754BRCA1NM_007294.3(BRCA1): c.3895C> T (p.Gln1299Ter)single nucleotide variantPathogenicrs80357038GRCh37Chr 17, 41243653: 41243653
755BRCA1NM_007294.3(BRCA1): c.3901_3902delAG (p.Ser1301Terfs)deletionPathogenicrs80357646GRCh37Chr 17, 41243646: 41243647
756BRCA1NM_007294.3(BRCA1): c.3904G> T (p.Glu1302Ter)single nucleotide variantPathogenicrs80357461GRCh37Chr 17, 41243644: 41243644
757BRCA1NM_007294.3(BRCA1): c.390C> A (p.Tyr130Ter)single nucleotide variantPathogenicrs80356888GRCh37Chr 17, 41256190: 41256190
758BRCA1NM_007294.3(BRCA1): c.3916_3917delTT (p.Leu1306Aspfs)deletionPathogenicrs80357678GRCh37Chr 17, 41243631: 41243632
759BRCA1NM_007294.3(BRCA1): c.391A> T (p.Arg131Ter)single nucleotide variantPathogenicrs80357207GRCh37Chr 17, 41256189: 41256189
760BRCA1NM_007294.3(BRCA1): c.3931_3934delAACA (p.Asn1311Profs)deletionPathogenicrs80357864GRCh37Chr 17, 41243614: 41243617
761BRCA1NM_007294.3(BRCA1): c.3932delA (p.Asn1311Thrfs)deletionPathogenicrs80357504GRCh37Chr 17, 41243616: 41243616
762BRCA1NM_007294.3(BRCA1): c.3964A> T (p.Lys1322Ter)single nucleotide variantPathogenicrs80357343GRCh37Chr 17, 41243584: 41243584
763BRCA1NM_007294.3(BRCA1): c.3966delA (p.Lys1322Asnfs)deletionPathogenicrs80357979GRCh37Chr 17, 41243582: 41243582
764BRCA1NM_007294.3(BRCA1): c.3967C> T (p.Gln1323Ter)single nucleotide variantPathogenicrs80357262GRCh37Chr 17, 41243581: 41243581
765BRCA1NM_007294.3(BRCA1): c.3972delG (p.Met1324Ilefs)deletionPathogenicrs80357987GRCh37Chr 17, 41243576: 41243576
766BRCA1NM_007294.3(BRCA1): c.3973delA (p.Arg1325Glyfs)deletionPathogenicrs80357904GRCh37Chr 17, 41243575: 41243575
767BRCA1NM_007294.3(BRCA1): c.399_400delTG (p.Ala134Glnfs)deletionPathogenicrs80357568GRCh37Chr 17, 41256180: 41256181
768BRCA1NM_007294.3(BRCA1): c.3G> T (p.Met1Ile)single nucleotide variantPathogenicrs80357475GRCh37Chr 17, 41276111: 41276111
769BRCA1NM_007294.3(BRCA1): c.4037_4038delAA (p.Gly1348Asnfs)deletionPathogenicrs273900721GRCh37Chr 17, 41243510: 41243511
770BRCA1NM_007294.3(BRCA1): c.4041_4042delAG (p.Gly1348Asnfs)deletionPathogenicrs80357727GRCh37Chr 17, 41243506: 41243507
771BRCA1NM_007294.3(BRCA1): c.4052T> A (p.Leu1351Ter)single nucleotide variantPathogenicrs397509132GRCh37Chr 17, 41243496: 41243496
772BRCA1NM_007294.3(BRCA1): c.4052dupT (p.Leu1351Phefs)duplicationPathogenicrs80357779GRCh37Chr 17, 41243496: 41243496
773BRCA1NM_007294.3(BRCA1): c.4057G> T (p.Glu1353Ter)single nucleotide variantPathogenicrs80357178GRCh37Chr 17, 41243491: 41243491
774BRCA1NM_007294.3(BRCA1): c.406dupA (p.Arg136Lysfs)duplicationPathogenicrs80357709GRCh37Chr 17, 41256174: 41256174
775BRCA1NM_007294.3(BRCA1): c.4075C> T (p.Gln1359Ter)single nucleotide variantPathogenicrs80357456GRCh37Chr 17, 41243473: 41243473
776BRCA1NM_007294.3(BRCA1): c.4085delA (p.Asp1362Valfs)deletionPathogenicrs80357737GRCh37Chr 17, 41243463: 41243463
777BRCA1NM_007294.3(BRCA1): c.4097-2A> Gsingle nucleotide variantPathogenicrs80358019GRCh37Chr 17, 41243051: 41243051
778BRCA1NM_007294.3(BRCA1): c.4122_4123delTG (p.Ser1374Argfs)deletionPathogenicrs80357691GRCh37Chr 17, 41243023: 41243024
779BRCA1NM_007294.3(BRCA1): c.4123G> T (p.Glu1375Ter)single nucleotide variantPathogenicrs80357397GRCh37Chr 17, 41243023: 41243023
780BRCA1NM_007294.3(BRCA1): c.412_418delCTACAGA (p.Leu138Valfs)deletionPathogenicrs80357816GRCh37Chr 17, 41256162: 41256168
781BRCA1NM_007294.3(BRCA1): c.415C> T (p.Gln139Ter)single nucleotide variantPathogenicrs80357372GRCh37Chr 17, 41256165: 41256165
782BRCA1NM_007294.3(BRCA1): c.4161_4162delTC (p.Gln1388Glufs)deletionPathogenicrs80357565GRCh37Chr 17, 41242984: 41242985
783BRCA1NM_007294.3(BRCA1): c.4163_4166delAGAG (p.Gln1388Leufs)deletionPathogenicrs80357532GRCh37Chr 17, 41242980: 41242983
784BRCA1NM_007294.3(BRCA1): c.4165_4166delAG (p.Ser1389Terfs)deletionPathogenicrs80357572GRCh37Chr 17, 41242980: 41242981
785BRCA1NM_007294.3(BRCA1): c.4167_4170delTGAC (p.Ser1389Argfs)deletionPathogenicrs80357538GRCh37Chr 17, 41242976: 41242979
786BRCA1NM_007294.3(BRCA1): c.4182_4183dupTC (p.Gln1395Leufs)duplicationPathogenicrs80357742GRCh37Chr 17, 41242963: 41242964
787BRCA1NM_007294.3(BRCA1): c.4183C> T (p.Gln1395Ter)single nucleotide variantLikely pathogenic, Pathogenicrs80357260GRCh37Chr 17, 41242963: 41242963
788BRCA1NM_007294.3(BRCA1): c.4185+1G> Tsingle nucleotide variantPathogenicrs80358076GRCh37Chr 17, 41242960: 41242960
789BRCA1NM_007294.3(BRCA1): c.4185G> A (p.Gln1395=)single nucleotide variantPathogenicrs80356857GRCh37Chr 17, 41242961: 41242961
790BRCA1NM_007294.3(BRCA1): c.4186C> T (p.Gln1396Ter)single nucleotide variantPathogenicrs80357011GRCh37Chr 17, 41234592: 41234592
791BRCA1NM_007294.3(BRCA1): c.4195_4196delAC (p.Thr1399Hisfs)deletionPathogenicrs80357649GRCh37Chr 17, 41234582: 41234583
792BRCA1NM_007294.3(BRCA1): c.4201C> T (p.Gln1401Ter)single nucleotide variantPathogenicrs397509151GRCh37Chr 17, 41234577: 41234577
793BRCA1NM_007294.3(BRCA1): c.4210delC (p.Leu1404Terfs)deletionPathogenicrs80357765GRCh37Chr 17, 41234568: 41234568
794BRCA1NM_007294.3(BRCA1): c.4222C> T (p.Gln1408Ter)single nucleotide variantPathogenicrs80356989GRCh37Chr 17, 41234556: 41234556
795BRCA1NM_007294.3(BRCA1): c.4258C> T (p.Gln1420Ter)single nucleotide variantPathogenicrs80357305GRCh37Chr 17, 41234520: 41234520
796BRCA1NM_007294.3(BRCA1): c.4300dupA (p.Ser1434Lysfs)duplicationPathogenicrs80357790GRCh37Chr 17, 41234478: 41234478
797BRCA1NM_007294.3(BRCA1): c.4321dupG (p.Asp1441Glyfs)duplicationPathogenicrs80357748GRCh37Chr 17, 41234457: 41234457
798BRCA1NM_007294.3(BRCA1): c.4331_4338delATCCAGAA (p.Asn1444Thrfs)deletionPathogenicrs80357825GRCh37Chr 17, 41234440: 41234447
799BRCA1NM_007294.3(BRCA1): c.4339C> T (p.Gln1447Ter)single nucleotide variantPathogenicrs80357067GRCh37Chr 17, 41234439: 41234439
800BRCA1NM_007294.3(BRCA1): c.4357+1G> Csingle nucleotide variantPathogenicrs80358027GRCh37Chr 17, 41234420: 41234420
801BRCA1NM_007294.3(BRCA1): c.4357+1G> Tsingle nucleotide variantPathogenicrs80358027GRCh37Chr 17, 41234420: 41234420
802BRCA1NM_007294.3(BRCA1): c.4357+2T> Csingle nucleotide variantPathogenicrs80358152GRCh37Chr 17, 41234419: 41234419
803BRCA1NM_007294.3(BRCA1): c.4370C> G (p.Ser1457Ter)single nucleotide variantPathogenicrs80357130GRCh37Chr 17, 41228619: 41228619
804BRCA1NM_007294.3(BRCA1): c.4372C> T (p.Gln1458Ter)single nucleotide variantPathogenicrs80356932GRCh37Chr 17, 41228617: 41228617
805BRCA1NM_007294.3(BRCA1): c.4373_4389del17 (p.Gln1458Profs)deletionPathogenicrs80359885GRCh37Chr 17, 41228600: 41228616
806BRCA1NM_007294.3(BRCA1): c.4389C> A (p.Tyr1463Ter)single nucleotide variantPathogenicrs80356997GRCh37Chr 17, 41228600: 41228600
807BRCA1NM_007294.3(BRCA1): c.4391_4403delCTATAAGCCAGAAinsTT (p.Pro1464Leufs)indelPathogenicrs273900731GRCh37Chr 17, 41228586: 41228598
808BRCA1NM_007294.3(BRCA1): c.4480G> T (p.Glu1494Ter)single nucleotide variantPathogenicrs80357148GRCh37Chr 17, 41228509: 41228509
809BRCA1NM_007294.3(BRCA1): c.4485-1G> Asingle nucleotide variantPathogenicrs80358189GRCh37Chr 17, 41226539: 41226539
810BRCA1NM_007294.3(BRCA1): c.4485-2A> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs80358054GRCh37Chr 17, 41226540: 41226540
811BRCA1NM_007294.3(BRCA1): c.4487C> A (p.Ser1496Ter)single nucleotide variantPathogenicrs80356953GRCh37Chr 17, 41226536: 41226536
812BRCA1NM_007294.3(BRCA1): c.4487C> G (p.Ser1496Ter)single nucleotide variantPathogenicrs80356953GRCh37Chr 17, 41226536: 41226536
813BRCA1NM_007294.3(BRCA1): c.4508C> A (p.Ser1503Ter)single nucleotide variantPathogenicrs80357437GRCh37Chr 17, 41226515: 41226515
814BRCA1NM_007294.3(BRCA1): c.4516delG (p.Asp1506Ilefs)deletionPathogenicrs273900736GRCh37Chr 17, 41226507: 41226507
815BRCA1NM_007294.3(BRCA1): c.4524G> A (p.Trp1508Ter)single nucleotide variantPathogenicrs80356885GRCh37Chr 17, 41226499: 41226499
816BRCA1NM_007294.3(BRCA1): c.4533_4534delCA (p.His1511Glnfs)deletionPathogenicrs80357534GRCh37Chr 17, 41226489: 41226490
817BRCA1NM_007294.3(BRCA1): c.4552C> T (p.Gln1518Ter)single nucleotide variantPathogenicrs80356881GRCh37Chr 17, 41226471: 41226471
818BRCA1NM_007294.3(BRCA1): c.4574_4575delAA (p.Gln1525Argfs)deletionPathogenicrs80357813GRCh37Chr 17, 41226448: 41226449
819BRCA1NM_007294.3(BRCA1): c.4595_4596insCT (p.Asp1533Leufs)insertionPathogenicrs80357699GRCh37Chr 17, 41226427: 41226428
820BRCA1NM_007294.3(BRCA1): c.4603G> T (p.Glu1535Ter)single nucleotide variantPathogenicrs80357366GRCh37Chr 17, 41226420: 41226420
821BRCA1NM_007294.3(BRCA1): c.4609C> T (p.Gln1537Ter)single nucleotide variantPathogenicrs80357229GRCh37Chr 17, 41226414: 41226414
822BRCA1NM_007294.3(BRCA1): c.4611_4612insG (p.Gln1538Alafs)insertionPathogenicrs80357915GRCh37Chr 17, 41226411: 41226412
823BRCA1NM_007294.3(BRCA1): c.4612C> T (p.Gln1538Ter)single nucleotide variantPathogenicrs80356992GRCh37Chr 17, 41226411: 41226411
824BRCA1NM_007294.3(BRCA1): c.4618G> T (p.Glu1540Ter)single nucleotide variantPathogenicrs80357277GRCh37Chr 17, 41226405: 41226405
825BRCA1NM_007294.3(BRCA1): c.4621G> T (p.Glu1541Ter)single nucleotide variantPathogenicrs80357248GRCh37Chr 17, 41226402: 41226402
826BRCA1NM_007294.3(BRCA1): c.4625_4626delCT (p.Ser1542Trpfs)deletionPathogenicrs80357542GRCh37Chr 17, 41226397: 41226398
827BRCA1NM_007294.3(BRCA1): c.4655_4658delACTT (p.Tyr1552Cysfs)deletionPathogenicrs80357561GRCh37Chr 17, 41226365: 41226368
828BRCA1NM_007294.3(BRCA1): c.4675+1G> Asingle nucleotide variantPathogenicrs80358044GRCh37Chr 17, 41226347: 41226347
829BRCA1NM_007294.3(BRCA1): c.4678G> T (p.Gly1560Ter)single nucleotide variantPathogenicrs80357349GRCh37Chr 17, 41223253: 41223253
830BRCA1NM_007294.3(BRCA1): c.4712_4716delTCTCT (p.Phe1571Terfs)deletionPathogenicrs80357718GRCh37Chr 17, 41223215: 41223219
831BRCA1NM_007294.3(BRCA1): c.4745delA (p.Asp1582Alafs)deletionPathogenicrs80357907GRCh37Chr 17, 41223186: 41223186
832BRCA1NM_007294.3(BRCA1): c.4754_4755delCA (p.Pro1585Argfs)deletionPathogenicrs80357837GRCh37Chr 17, 41223176: 41223177
833BRCA1NM_007294.3(BRCA1): c.4801A> T (p.Lys1601Ter)single nucleotide variantPathogenicrs80357303GRCh37Chr 17, 41223130: 41223130
834BRCA1NM_007294.3(BRCA1): c.4810C> T (p.Gln1604Ter)single nucleotide variantPathogenicrs80357352GRCh37Chr 17, 41223121: 41223121
835BRCA1NM_007294.3(BRCA1): c.485_486delTG (p.Val162Glufs)deletionPathogenicrs80357708GRCh37Chr 17, 41251853: 41251854
836BRCA1NM_007294.3(BRCA1): c.4903G> T (p.Glu1635Ter)single nucleotide variantPathogenicrs200432771GRCh37Chr 17, 41223028: 41223028
837BRCA1NM_007294.3(BRCA1): c.4936delG (p.Val1646Serfs)deletionPathogenicrs80357653GRCh37Chr 17, 41222995: 41222995
838BRCA1NM_007294.3(BRCA1): c.493delC (p.Leu165Terfs)deletionPathogenicrs80357551GRCh37Chr 17, 41251846: 41251846
839BRCA1NM_007294.3(BRCA1): c.4941delC (p.Asn1647Lysfs)deletionPathogenicrs80357905GRCh37Chr 17, 41222990: 41222990
840BRCA1NM_007294.3(BRCA1): c.4945delA (p.Arg1649Glufs)deletionPathogenicrs80357761GRCh37Chr 17, 41222986: 41222986
841BRCA1NM_007294.3(BRCA1): c.494dupT (p.Arg166Glufs)duplicationPathogenicrs80357762GRCh37Chr 17, 41251845: 41251845
842BRCA1NM_007294.3(BRCA1): c.4981G> T (p.Glu1661Ter)single nucleotide variantPathogenicrs80357401GRCh37Chr 17, 41222950: 41222950
843BRCA1NM_007294.3(BRCA1): c.4986+3G> Csingle nucleotide variantPathogenicrs80358023GRCh37Chr 17, 41222942: 41222942
844BRCA1NM_007294.3(BRCA1): c.4986+4A> Tsingle nucleotide variantPathogenicrs80358087GRCh37Chr 17, 41222941: 41222941
845BRCA1NM_007294.3(BRCA1): c.4986+6T> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs80358086GRCh37Chr 17, 41222939: 41222939
846BRCA1NM_007294.3(BRCA1): c.4999A> T (p.Lys1667Ter)single nucleotide variantPathogenicrs80357204GRCh37Chr 17, 41219700: 41219700
847BRCA1NM_007294.3(BRCA1): c.5005delG (p.Ala1669Profs)deletionPathogenicrs80357938GRCh37Chr 17, 41219694: 41219694
848BRCA1NM_007294.3(BRCA1): c.5026_5036delTTAACTAATCT (p.Leu1676Asnfs)deletionPathogenicrs80357894GRCh37Chr 17, 41219663: 41219673
849BRCA1NM_007294.3(BRCA1): c.5035delC (p.Leu1679Terfs)deletionPathogenicrs80357896GRCh37Chr 17, 41219664: 41219664
850BRCA1NM_007294.3(BRCA1): c.5040delT (p.Thr1681Leufs)deletionPathogenicrs80357673GRCh37Chr 17, 41219659: 41219659
851BRCA1NM_007294.3(BRCA1): c.5047G> T (p.Glu1683Ter)single nucleotide variantPathogenicrs80356879GRCh37Chr 17, 41219652: 41219652
852BRCA1NM_007294.3(BRCA1): c.5053A> G (p.Thr1685Ala)single nucleotide variantPathogenicrs80356890GRCh37Chr 17, 41219646: 41219646
853BRCA1NM_007294.3(BRCA1): c.5054C> T (p.Thr1685Ile)single nucleotide variantPathogenicrs80357043GRCh37Chr 17, 41219645: 41219645
854BRCA1NM_007294.3(BRCA1): c.505C> T (p.Gln169Ter)single nucleotide variantPathogenicrs80357133GRCh37Chr 17, 41251834: 41251834
855BRCA1NM_007294.3(BRCA1): c.5062_5064delGTT (p.Val1688del)deletionPathogenicrs80358344GRCh37Chr 17, 41219635: 41219637
856BRCA1NM_007294.3(BRCA1): c.5071dupA (p.Thr1691Asnfs)duplicationPathogenicrs80357672GRCh37Chr 17, 41219628: 41219628
857BRCA1NM_007294.3(BRCA1): c.5074G> T (p.Asp1692Tyr)single nucleotide variantPathogenicrs80187739GRCh37Chr 17, 41219625: 41219625
858BRCA1NM_007294.3(BRCA1): c.5075-1G> Asingle nucleotide variantPathogenicrs1800747GRCh37Chr 17, 41215969: 41215969
859BRCA1NM_007294.3(BRCA1): c.5075-2A> Csingle nucleotide variantPathogenicrs80358066GRCh37Chr 17, 41215970: 41215970
860BRCA1NM_007294.3(BRCA1): c.5075-2A> Tsingle nucleotide variantPathogenicrs80358066GRCh37Chr 17, 41215970: 41215970
861BRCA1NM_007294.3(BRCA1): c.5078_5080delCTG (p.Ala1693del)deletionLikely pathogenicrs80358345GRCh37Chr 17, 41215963: 41215965
862BRCA1NM_007294.3(BRCA1): c.5080G> T (p.Glu1694Ter)single nucleotide variantPathogenicrs80356896GRCh37Chr 17, 41215963: 41215963
863BRCA1NM_007294.3(BRCA1): c.5084_5085delTT (p.Phe1695Cysfs)deletionPathogenicrs80357760GRCh37Chr 17, 41215958: 41215959
864BRCA1NM_007294.3(BRCA1): c.5089T> C (p.Cys1697Arg)single nucleotide variantLikely pathogenicrs80356993GRCh37Chr 17, 41215954: 41215954
865BRCA1NM_007294.3(BRCA1): c.5091_5092delTG (p.Cys1697Terfs)deletionPathogenicrs80357710GRCh37Chr 17, 41215951: 41215952
866BRCA1NM_007294.3(BRCA1): c.5095C> T (p.Arg1699Trp)single nucleotide variantPathogenicrs55770810GRCh37Chr 17, 41215948: 41215948
867BRCA1NM_007294.3(BRCA1): c.5102_5103delTG (p.Leu1701Glnfs)deletionPathogenicrs80357608GRCh37Chr 17, 41215940: 41215941
868BRCA1NM_007294.3(BRCA1): c.5106delA (p.Lys1702Asnfs)deletionPathogenicrs80357553GRCh37Chr 17, 41215937: 41215937
869BRCA1NM_007294.3(BRCA1): c.5109T> G (p.Tyr1703Ter)single nucleotide variantPathogenicrs80356974GRCh37Chr 17, 41215934: 41215934
870BRCA1NM_007294.3(BRCA1): c.5123C> A (p.Ala1708Glu)single nucleotide variantPathogenicrs28897696GRCh37Chr 17, 41215920: 41215920
871BRCA1NM_007294.3(BRCA1): c.5126delG (p.Gly1709Glufs)deletionPathogenicrs80357874GRCh37Chr 17, 41215917: 41215917
872BRCA1NM_007294.3(BRCA1): c.5136G> A (p.Trp1712Ter)single nucleotide variantPathogenicrs80357418GRCh37Chr 17, 41215907: 41215907
873BRCA1NM_007294.3(BRCA1): c.5137delG (p.Val1713Terfs)deletionPathogenicrs80357997GRCh37Chr 17, 41215906: 41215906
874BRCA1NM_007294.3(BRCA1): c.5138T> C (p.Val1713Ala)single nucleotide variantLikely pathogenicrs80357132GRCh37Chr 17, 41215905: 41215905
875BRCA1NM_007294.3(BRCA1): c.5143A> C (p.Ser1715Arg)single nucleotide variantPathogenicrs80357222GRCh37Chr 17, 41215900: 41215900
876BRCA1NM_007294.3(BRCA1): c.5143A> T (p.Ser1715Cys)single nucleotide variantLikely pathogenicrs80357222GRCh37Chr 17, 41215900: 41215900
877BRCA1NM_007294.3(BRCA1): c.514C> T (p.Gln172Ter)single nucleotide variantPathogenicrs80356947GRCh37Chr 17, 41251825: 41251825
878BRCA1NM_007294.3(BRCA1): c.514delC (p.Gln172Asnfs)deletionPathogenicrs80357872GRCh37Chr 17, 41251825: 41251825
879BRCA1NM_007294.3(BRCA1): c.5150delT (p.Phe1717Serfs)deletionPathogenicrs80357720GRCh37Chr 17, 41215893: 41215893
880BRCA1NM_007294.3(BRCA1): c.5152+1G> Tsingle nucleotide variantPathogenicrs80358094GRCh37Chr 17, 41215890: 41215890
881BRCA1NM_007294.3(BRCA1): c.5152+2dupTduplicationLikely pathogenicrs397509231GRCh37Chr 17, 41215889: 41215889
882BRCA1NM_007294.3(BRCA1): c.5152+3A> Csingle nucleotide variantPathogenicrs80358124GRCh37Chr 17, 41215888: 41215888
883BRCA1NM_007294.3(BRCA1): c.5152+5G> Asingle nucleotide variantLikely pathogenicrs80358165GRCh37Chr 17, 41215886: 41215886
884BRCA1NM_007294.3(BRCA1): c.5153-1G> Asingle nucleotide variantPathogenicrs80358137GRCh37Chr 17, 41215391: 41215391
885BRCA1NM_007294.3(BRCA1): c.5153-2delAdeletionPathogenicrs273901746GRCh37Chr 17, 41215392: 41215392
886BRCA1NM_007294.3(BRCA1): c.5153G> A (p.Trp1718Ter)single nucleotide variantPathogenicrs41293461GRCh37Chr 17, 41215390: 41215390
887BRCA1NM_007294.3(BRCA1): c.5154G> A (p.Trp1718Ter)single nucleotide variantPathogenicrs80357239GRCh37Chr 17, 41215389: 41215389
888BRCA1NM_007294.3(BRCA1): c.5154G> T (p.Trp1718Cys)single nucleotide variantLikely pathogenicrs80357239GRCh37Chr 17, 41215389: 41215389
889BRCA1NM_007294.3(BRCA1): c.5155delG (p.Val1719Terfs)deletionPathogenicrs80357743GRCh37Chr 17, 41215388: 41215388
890BRCA1NM_007294.3(BRCA1): c.5156_5157delTG (p.Val1719Aspfs)deletionPathogenicrs80357895GRCh37Chr 17, 41215386: 41215387
891BRCA1NM_007294.3(BRCA1): c.5165C> T (p.Ser1722Phe)single nucleotide variantPathogenicrs80357104GRCh37Chr 17, 41215378: 41215378
892BRCA1NM_007294.3(BRCA1): c.5173G> T (p.Glu1725Ter)single nucleotide variantPathogenicrs80357291GRCh37Chr 17, 41215370: 41215370
893BRCA1NM_007294.3(BRCA1): c.5177_5178delGA (p.Arg1726Lysfs)deletionPathogenicrs80357730GRCh37Chr 17, 41215365: 41215366
894BRCA1NM_007294.3(BRCA1): c.5193+1G> Csingle nucleotide variantPathogenicrs80358004GRCh37Chr 17, 41215349: 41215349
895BRCA1NM_007294.3(BRCA1): c.5193+2delTdeletionPathogenicrs273901751GRCh37Chr 17, 41215348: 41215348
896BRCA1NM_007294.3(BRCA1): c.5194-12G> Asingle nucleotide variantPathogenicrs80358079GRCh37Chr 17, 41209164: 41209164
897BRCA1NM_007294.3(BRCA1): c.5209A> T (p.Arg1737Ter)single nucleotide variantPathogenicrs80357496GRCh37Chr 17, 41209137: 41209137
898BRCA1NM_007294.3(BRCA1): c.5209_5248del40insTC (p.Arg1737Serfs)indelPathogenicrs273901753GRCh37Chr 17, 41209098: 41209137
899BRCA1NM_007294.3(BRCA1): c.520delC (p.Gln174Lysfs)deletionPathogenicrs80357639GRCh37Chr 17, 41251819: 41251819
900BRCA1NM_007294.3(BRCA1): c.5212G> A (p.Gly1738Arg)single nucleotide variantPathogenicrs80356937GRCh37Chr 17, 41209134: 41209134
901BRCA1NM_007294.3(BRCA1): c.5213G> A (p.Gly1738Glu)single nucleotide variantLikely pathogenicrs80357450GRCh37Chr 17, 41209133: 41209133
902BRCA1NM_007294.3(BRCA1): c.5229_5230delAA (p.Arg1744Lysfs)deletionPathogenicrs80357852GRCh37Chr 17, 41209116: 41209117
903BRCA1NM_007294.3(BRCA1): c.5239C> T (p.Gln1747Ter)single nucleotide variantPathogenicrs80357367GRCh37Chr 17, 41209107: 41209107
904BRCA1NM_007294.3(BRCA1): c.5243delG (p.Gly1748Valfs)deletionPathogenicrs80357676GRCh37Chr 17, 41209103: 41209103
905BRCA1NM_007294.3(BRCA1): c.5246C> G (p.Pro1749Arg)single nucleotide variantPathogenicrs80357462GRCh37Chr 17, 41209100: 41209100
906BRCA1NM_007294.3(BRCA1): c.5251C> T (p.Arg1751Ter)single nucleotide variantPathogenicrs80357123GRCh37Chr 17, 41209095: 41209095
907BRCA1NM_007294.3(BRCA1): c.5260G> T (p.Glu1754Ter)single nucleotide variantPathogenicrs80357432GRCh37Chr 17, 41209086: 41209086
908BRCA1NM_007294.3(BRCA1): c.5274delA (p.Lys1759Argfs)deletionPathogenicrs80357732GRCh37Chr 17, 41209072: 41209072
909BRCA1NM_007294.3(BRCA1): c.5277G> A (p.Lys1759=)single nucleotide variantPathogenicrs80356854GRCh37Chr 17, 41209069: 41209069
910BRCA1NM_007294.3(BRCA1): c.5278-1G> Asingle nucleotide variantPathogenicrs80358099GRCh37Chr 17, 41203135: 41203135
911BRCA1NM_007294.3(BRCA1): c.5278-1G> Csingle nucleotide variantPathogenicrs80358099GRCh37Chr 17, 41203135: 41203135
912BRCA1NM_007294.3(BRCA1): c.5278-1G> Tsingle nucleotide variantPathogenicrs80358099GRCh37Chr 17, 41203135: 41203135
913BRCA1NM_007294.3(BRCA1): c.5284delA (p.Arg1762Glyfs)deletionPathogenicrs80357684GRCh37Chr 17, 41203128: 41203128
914BRCA1NM_007294.3(BRCA1): c.5288G> T (p.Gly1763Val)single nucleotide variantLikely pathogenicrs80357007GRCh37Chr 17, 41203124: 41203124
915BRCA1NM_007294.3(BRCA1): c.5291T> C (p.Leu1764Pro)single nucleotide variantPathogenicrs80357281GRCh37Chr 17, 41203121: 41203121
916BRCA1NM_007294.3(BRCA1): c.529delT (p.Ser177Leufs)deletionPathogenicrs80357758GRCh37Chr 17, 41251810: 41251810
917BRCA1NM_007294.3(BRCA1): c.5310delG (p.Phe1772Serfs)deletionPathogenicrs80357581GRCh37Chr 17, 41203102: 41203102
918BRCA1NM_007294.3(BRCA1): c.5319dupC (p.Asn1774Glnfs)duplicationPathogenicrs80357823GRCh37Chr 17, 41203093: 41203093
919BRCA1NM_007294.3(BRCA1): c.5320_5321delAA (p.Asn1774Hisfs)deletionPathogenicrs80357818GRCh37Chr 17, 41203091: 41203092
920BRCA1NM_007294.3(BRCA1): c.5328dupC (p.Thr1777Hisfs)duplicationPathogenicrs80357751GRCh37Chr 17, 41203084: 41203084
921BRCA1NM_007294.3(BRCA1): c.5332+1G> Asingle nucleotide variantPathogenicrs80358041GRCh37Chr 17, 41203079: 41203079
922BRCA1NM_007294.3(BRCA1): c.5333-1G> Asingle nucleotide variantLikely pathogenicrs80358126GRCh37Chr 17, 41201212: 41201212
923BRCA1NM_007294.3(BRCA1): c.5333-1G> Csingle nucleotide variantPathogenicrs80358126GRCh37Chr 17, 41201212: 41201212
924BRCA1NM_007294.3(BRCA1): c.5333-2A> Tsingle nucleotide variantLikely pathogenicrs397509264GRCh37Chr 17, 41201213: 41201213
925BRCA1NM_007294.3(BRCA1): c.5341G> T (p.Glu1781Ter)single nucleotide variantPathogenicrs397509268GRCh37Chr 17, 41201203: 41201203
926BRCA1NM_007294.3(BRCA1): c.5341delG (p.Glu1781Asnfs)deletionPathogenicrs80357694GRCh37Chr 17, 41201203: 41201203
927BRCA1NM_007294.3(BRCA1): c.5345G> A (p.Trp1782Ter)single nucleotide variantPathogenicrs80357219GRCh37Chr 17, 41201199: 41201199
928BRCA1NM_007294.3(BRCA1): c.5353C> T (p.Gln1785Ter)single nucleotide variantPathogenicrs80356969GRCh37Chr 17, 41201191: 41201191
929BRCA1NM_007294.3(BRCA1): c.5359T> A (p.Cys1787Ser)single nucleotide variantPathogenicrs80357065GRCh37Chr 17, 41201185: 41201185
930BRCA1NM_007294.3(BRCA1): c.5363G> A (p.Gly1788Asp)single nucleotide variantPathogenicrs80357069GRCh37Chr 17, 41201181: 41201181
931BRCA1NM_007294.3(BRCA1): c.5386dupT (p.Ser1796Phefs)duplicationPathogenicrs80357838GRCh37Chr 17, 41201158: 41201158
932BRCA1NM_007294.3(BRCA1): c.5406+5G> Asingle nucleotide variantPathogenicrs80358073GRCh37Chr 17, 41201133: 41201133
933BRCA1NM_007294.3(BRCA1): c.5407-2A> Gsingle nucleotide variantPathogenicrs80358002GRCh37Chr 17, 41199722: 41199722
934BRCA1NM_007294.3(BRCA1): c.5419delA (p.Ile1807Leufs)deletionPathogenicrs80357934GRCh37Chr 17, 41199708: 41199708
935BRCA1NM_007294.3(BRCA1): c.5440delG (p.Ala1814Profs)deletionPathogenicrs80357946GRCh37Chr 17, 41199687: 41199687
936BRCA1NM_007294.3(BRCA1): c.5444G> A (p.Trp1815Ter)single nucleotide variantPathogenicrs80356962GRCh37Chr 17, 41199683: 41199683
937BRCA1NM_007294.3(BRCA1): c.5445G> A (p.Trp1815Ter)single nucleotide variantPathogenicrs397509284GRCh37Chr 17, 41199682: 41199682
938BRCA1NM_007294.3(BRCA1): c.5449G> T (p.Glu1817Ter)single nucleotide variantPathogenicrs80356868GRCh37Chr 17, 41199678: 41199678
939BRCA1NM_007294.3(BRCA1): c.547+1G> Tsingle nucleotide variantPathogenicrs80358030GRCh37Chr 17, 41251791: 41251791
940BRCA1NM_007294.3(BRCA1): c.5470_5477delATTGGGCA (p.Ile1824Aspfs)deletionPathogenicrs80357973GRCh37Chr 17, 41197810: 41197817
941BRCA1NM_007294.3(BRCA1): c.5492delC (p.Pro1831Leufs)deletionPathogenicrs80357582GRCh37Chr 17, 41197795: 41197795
942BRCA1NM_007294.3(BRCA1): c.5496_5506delGGTGACCCGAGinsA (p.Val1833Serfs)indelPathogenicrs273902775GRCh37Chr 17, 41197781: 41197791
943BRCA1NM_007294.3(BRCA1): c.5497G> A (p.Val1833Met)single nucleotide variantLikely pathogenic, Pathogenicrs80357268GRCh37Chr 17, 41197790: 41197790
944BRCA1NM_007294.3(BRCA1): c.5503C> T (p.Arg1835Ter)single nucleotide variantLikely pathogenic, Pathogenicrs41293465GRCh37Chr 17, 41197784: 41197784
945BRCA1NM_007294.3(BRCA1): c.5503_5564del62 (p.Arg1835Thrfs)deletionPathogenicrs80359883GRCh37Chr 17, 41197723: 41197784
946BRCA1NM_007294.3(BRCA1): c.5506G> T (p.Glu1836Ter)single nucleotide variantPathogenicrs80356942GRCh37Chr 17, 41197781: 41197781
947BRCA1NM_007294.3(BRCA1): c.5510G> A (p.Trp1837Ter)single nucleotide variantPathogenicrs80357307GRCh37Chr 17, 41197777: 41197777
948BRCA1NM_007294.3(BRCA1): c.5511G> A (p.Trp1837Ter)single nucleotide variantPathogenicrs80356914GRCh37Chr 17, 41197776: 41197776
949BRCA1NM_007294.3(BRCA1): c.5512delG (p.Val1838Cysfs)deletionPathogenicrs80357839GRCh37Chr 17, 41197775: 41197775
950BRCA1NM_007294.3(BRCA1): c.5513T> A (p.Val1838Glu)single nucleotide variantPathogenicrs80357107GRCh37Chr 17, 41197774: 41197774
951BRCA1NM_007294.3(BRCA1): c.5521delA (p.Ser1841Valfs)deletionPathogenicrs80357721GRCh37Chr 17, 41197766: 41197766
952BRCA1NM_007294.3(BRCA1): c.5535C> A (p.Tyr1845Ter)single nucleotide variantPathogenicrs80356977GRCh37Chr 17, 41197752: 41197752
953BRCA1NM_007294.3(BRCA1): c.5536C> T (p.Gln1846Ter)single nucleotide variantLikely pathogenic, Pathogenicrs80356873GRCh37Chr 17, 41197751: 41197751
954BRCA1NM_007294.3(BRCA1): c.5541C> A (p.Cys1847Ter)single nucleotide variantPathogenicrs397509295GRCh37Chr 17, 41197746: 41197746
955BRCA1NM_007294.3(BRCA1): c.5558dupA (p.Tyr1853Terfs)duplicationPathogenicrs80357629GRCh37Chr 17, 41197729: 41197729
956BRCA1NM_007294.3(BRCA1): c.5559C> A (p.Tyr1853Ter)single nucleotide variantPathogenicrs80357336GRCh37Chr 17, 41197728: 41197728
957BRCA1NM_007294.3(BRCA1): c.64delT (p.Leu22Terfs)deletionPathogenicrs80357803GRCh37Chr 17, 41276050: 41276050
958BRCA1NM_007294.3(BRCA1): c.65T> C (p.Leu22Ser)single nucleotide variantPathogenicrs80357438GRCh37Chr 17, 41276049: 41276049
959BRCA1NM_007294.3(BRCA1): c.668delA (p.Lys223Argfs)deletionPathogenicrs80357745GRCh37Chr 17, 41247865: 41247865
960BRCA1NM_007294.3(BRCA1): c.671-2A> Csingle nucleotide variantPathogenicrs80358108GRCh37Chr 17, 41246879: 41246879
961BRCA1NM_007294.3(BRCA1): c.685delT (p.Ser229Leufs)deletionPathogenicrs80357824GRCh37Chr 17, 41246863: 41246863
962BRCA1NM_007294.3(BRCA1): c.68_69dupAG (p.Cys24Serfs)duplicationPathogenicrs80357914GRCh37Chr 17, 41276045: 41276046
963BRCA1NM_007294.3(BRCA1): c.70_80delTGTCCCATCTG (p.Cys24Serfs)deletionPathogenicrs80357696GRCh37Chr 17, 41276034: 41276044
964BRCA1NM_007294.3(BRCA1): c.731delA (p.Asn244Metfs)deletionPathogenicrs80357700GRCh37Chr 17, 41246817: 41246817
965BRCA1NM_007294.3(BRCA1): c.73_74delCC (p.Pro25Hisfs)deletionPathogenicrs80357633GRCh37Chr 17, 41276040: 41276041
966BRCA1NM_007294.3(BRCA1): c.763G> T (p.Glu255Ter)single nucleotide variantPathogenicrs80357009GRCh37Chr 17, 41246785: 41246785
967BRCA1NM_007294.3(BRCA1): c.775delG (p.Glu259Lysfs)deletionPathogenicrs80357628GRCh37Chr 17, 41246773: 41246773
968BRCA1NM_007294.3(BRCA1): c.791_794delGTTC (p.Ser264Metfs)deletionPathogenicrs80357707GRCh37Chr 17, 41246754: 41246757
969BRCA1NM_007294.3(BRCA1): c.794_795delCT (p.Ser265Cysfs)deletionPathogenicrs80357955GRCh37Chr 17, 41246753: 41246754
970BRCA1NM_007294.3(BRCA1): c.80+1G> Asingle nucleotide variantPathogenicrs80358010GRCh37Chr 17, 41276033: 41276033
971BRCA1NM_007294.3(BRCA1): c.800C> G (p.Ser267Ter)single nucleotide variantPathogenicrs80357392GRCh37Chr 17, 41246748: 41246748
972BRCA1NM_007294.3(BRCA1): c.809delA (p.His270Leufs)deletionPathogenicrs80357965GRCh37Chr 17, 41246739: 41246739
973BRCA1NM_007294.3(BRCA1): c.81-2delAdeletionPathogenicrs273902791GRCh37Chr 17, 41267798: 41267798
974BRCA1NM_007294.3(BRCA1): c.815_824dupAGCCATGTGG (p.Thr276Alafs)duplicationPathogenicrs387906563GRCh37Chr 17, 41246724: 41246733
975BRCA1NM_007294.3(BRCA1): c.822T> A (p.Cys274Ter)single nucleotide variantPathogenicrs80357331GRCh37Chr 17, 41246726: 41246726
976BRCA1NM_007294.3(BRCA1): c.835delC (p.His279Metfs)deletionPathogenicrs80357523GRCh37Chr 17, 41246713: 41246713
977BRCA1NM_007294.3(BRCA1): c.83_84delTG (p.Leu28Argfs)deletionPathogenicrs80357728GRCh37Chr 17, 41267793: 41267794
978BRCA1NM_007294.3(BRCA1): c.844_850dupTCATTAC (p.Gln284Leufs)duplicationPathogenicrs80357989GRCh37Chr 17, 41246698: 41246704
979BRCA1NM_007294.3(BRCA1): c.848T> A (p.Leu283Ter)single nucleotide variantPathogenicrs273902792GRCh37Chr 17, 41246700: 41246700
980BRCA1NM_007294.3(BRCA1): c.851_852delAG (p.Gln284Profs)deletionPathogenicrs80357719GRCh37Chr 17, 41246696: 41246697
981BRCA1NM_007294.3(BRCA1): c.895_896delGT (p.Val299Argfs)deletionPathogenicrs80357670GRCh37Chr 17, 41246652: 41246653
982BRCA1NM_007294.3(BRCA1): c.904delG (p.Ala302Leufs)deletionPathogenicrs273903793GRCh37Chr 17, 41246644: 41246644
983BRCA1NM_007294.3(BRCA1): c.911delT (p.Phe304Serfs)deletionPathogenicrs80357622GRCh37Chr 17, 41246637: 41246637
984BRCA1NM_007294.3(BRCA1): c.922_923delAG (p.Ser308Glnfs)deletionPathogenicrs80357644GRCh37Chr 17, 41246625: 41246626
985BRCA1NM_007294.3(BRCA1): c.922_924delAGCinsT (p.Ser308Terfs)indelPathogenicrs397509335GRCh37Chr 17, 41246624: 41246626
986BRCA1NM_007294.3(BRCA1): c.923delG (p.Ser308Thrfs)deletionPathogenicrs80357953GRCh37Chr 17, 41246625: 41246625
987BRCA1NM_007294.3(BRCA1): c.930delG (p.Gln310Hisfs)deletionPathogenicrs80357689GRCh37Chr 17, 41246618: 41246618
988BRCA1NM_007294.3(BRCA1): c.949C> T (p.Gln317Ter)single nucleotide variantPathogenicrs80357211GRCh37Chr 17, 41246599: 41246599
989BRCA1NM_007294.3(BRCA1): c.949_953delCAACA (p.Gln317Terfs)deletionPathogenicrs80357555GRCh37Chr 17, 41246595: 41246599
990BRCA1NM_007294.3(BRCA1): c.959_960delGA (p.Arg320Metfs)deletionPathogenicrs397509339GRCh37Chr 17, 41246588: 41246589
991BRCA1NM_007294.3(BRCA1): c.964delG (p.Ala322Leufs)deletionPathogenicrs273903794GRCh37Chr 17, 41246584: 41246584
992BRCA1NM_007294.3(BRCA1): c.980_981delCA (p.Thr327Metfs)deletionPathogenicrs80357610GRCh37Chr 17, 41246567: 41246568
993BRCA1NM_007294.3(BRCA1): c.981_982delAT (p.Cys328Terfs)deletionPathogenicrs80357772GRCh37Chr 17, 41246566: 41246567
994NBNNM_002485.4(NBN): c.657_661delACAAA (p.Lys219Asnfs)deletionPathogenic, risk factorrs587776650GRCh37Chr 8, 90983442: 90983446
995BRCA1NM_007294.3(BRCA1): c.1086_1141del56 (p.Asn363Serfs)deletionPathogenicrs80359875GRCh37Chr 17, 41246407: 41246462
996BRCA1NM_007294.3(BRCA1): c.1093A> T (p.Arg365Ter)single nucleotide variantPathogenicrs398122627GRCh37Chr 17, 41246455: 41246455
997BRCA1NM_007294.3(BRCA1): c.1292delT (p.Leu431Tyrfs)deletionPathogenicrs398122629GRCh37Chr 17, 41246256: 41246256
998BRCA1NM_007294.3(BRCA1): c.1326_1327insGT (p.Lys443Valfs)insertionPathogenicrs80357543GRCh37Chr 17, 41246221: 41246222
999BRCA1NM_007294.3(BRCA1): c.1327A> T (p.Lys443Ter)single nucleotide variantPathogenicrs398122630GRCh37Chr 17, 41246221: 41246221
1000BRCA1NM_007294.3(BRCA1): c.1336dupA (p.Arg446Lysfs)duplicationPathogenicrs398122631GRCh37Chr 17, 41246212: 41246212
1001BRCA1NM_007294.3(BRCA1): c.134+2T> Csingle nucleotide variantPathogenicrs80358131GRCh37Chr 17, 41267741: 41267741
1002BRCA1NM_007294.3(BRCA1): c.134+5G> Asingle nucleotide variantLikely pathogenicrs80358038GRCh37Chr 17, 41267738: 41267738
1003BRCA1NM_007294.3(BRCA1): c.1361delG (p.Ser454Ilefs)deletionPathogenicrs398122632GRCh37Chr 17, 41246187: 41246187
1004BRCA1NM_007294.3(BRCA1): c.1377_1378delAA (p.Lys459Asnfs)deletionPathogenicrs398122633GRCh37Chr 17, 41246170: 41246171
1005BRCA1NM_007294.3(BRCA1): c.141C> A (p.Cys47Ter)single nucleotide variantPathogenicrs398122635GRCh37Chr 17, 41258544: 41258544
1006BRCA1NM_007294.3(BRCA1): c.1512dupT (p.Lys505Terfs)duplicationPathogenicrs398122636GRCh37Chr 17, 41246036: 41246036
1007BRCA1NM_007294.3(BRCA1): c.1628delG (p.Gly543Valfs)deletionPathogenicrs398122640GRCh37Chr 17, 41245920: 41245920
1008BRCA1NM_007294.3(BRCA1): c.1744delA (p.Thr582Argfs)deletionPathogenicrs398122641GRCh37Chr 17, 41245804: 41245804
1009BRCA1NM_007294.3(BRCA1): c.1759delA (p.Ile587Terfs)deletionPathogenicrs398122642GRCh37Chr 17, 41245789: 41245789
1010BRCA1NM_007294.3(BRCA1): c.1875delA (p.Val626Terfs)deletionPathogenicrs398122646GRCh37Chr 17, 41245673: 41245673
1011BRCA1NM_007294.3(BRCA1): c.18_19insG (p.Arg7Alafs)insertionPathogenicrs398122648GRCh37Chr 17, 41276095: 41276096
1012BRCA1NM_007294.3(BRCA1): c.1921delA (p.Ile641Leufs)deletionPathogenicrs398122650GRCh37Chr 17, 41245627: 41245627
1013BRCA1NM_007294.3(BRCA1): c.203_204delTA (p.Ile68Asnfs)deletionPathogenicrs398122651GRCh37Chr 17, 41258481: 41258482
1014BRCA1NM_007294.3(BRCA1): c.2070_2071delAA (p.Arg691Thrfs)deletionPathogenicrs273898676GRCh37Chr 17, 41245477: 41245478
1015BRCA1NM_007294.3(BRCA1): c.2131_2132delAA (p.Lys711Valfs)deletionPathogenicrs398122653GRCh37Chr 17, 41245416: 41245417
1016BRCA1NM_007294.3(BRCA1): c.2199delG (p.Lys734Asnfs)deletionPathogenicrs80357944GRCh37Chr 17, 41245349: 41245349
1017BRCA1NM_007294.3(BRCA1): c.2246_2247insGA (p.Asp749Glufs)insertionPathogenicrs398122654GRCh37Chr 17, 41245301: 41245302
1018BRCA1NM_007294.3(BRCA1): c.2386dupA (p.Thr796Asnfs)duplicationPathogenicrs398122657GRCh37Chr 17, 41245162: 41245162
1019BRCA1NM_007294.3(BRCA1): c.241_251delCAACTTGTTGA (p.Gln81Argfs)deletionPathogenicrs398122659GRCh37Chr 17, 41256935: 41256945
1020BRCA1NM_007294.3(BRCA1): c.2504_2505ins17 (p.?)insertionPathogenicrs483353078GRCh37Chr 17, 41245043: 41245044
1021BRCA1NM_007294.3(BRCA1): c.250G> T (p.Glu84Ter)single nucleotide variantPathogenicrs398122661GRCh37Chr 17, 41256936: 41256936
1022BRCA1NM_007294.3(BRCA1): c.2654delT (p.Phe885Serfs)deletionPathogenicrs398122663GRCh37Chr 17, 41244894: 41244894
1023BRCA1NM_007294.3(BRCA1): c.2686dupA (p.Ser896Lysfs)duplicationPathogenicrs398122664GRCh37Chr 17, 41244862: 41244862
1024BRCA1NM_007294.3(BRCA1): c.2748delT (p.Asn916Lysfs)deletionPathogenicrs398122667GRCh37Chr 17, 41244800: 41244800
1025BRCA1NM_007294.3(BRCA1): c.2774delT (p.Ile925Thrfs)deletionPathogenicrs398122669GRCh37Chr 17, 41244774: 41244774
1026BRCA1NM_007294.3(BRCA1): c.2902_2903insTC (p.Pro968Leufs)insertionPathogenicrs398122670GRCh37Chr 17, 41244645: 41244646
1027BRCA1NM_007294.3(BRCA1): c.2940delA (p.Pro981Hisfs)deletionPathogenicrs80357876GRCh37Chr 17, 41244608: 41244608
1028BRCA1NM_007294.3(BRCA1): c.3204delT (p.Gln1069Lysfs)deletionPathogenicrs398122673GRCh37Chr 17, 41244344: 41244344
1029BRCA1NM_007294.3(BRCA1): c.3599_3600delAG (p.Gln1200Argfs)deletionPathogenicrs398122674GRCh37Chr 17, 41243948: 41243949
1030BRCA1NM_007294.3(BRCA1): c.3672delC (p.Cys1225Alafs)deletionPathogenicrs398122677GRCh37Chr 17, 41243876: 41243876
1031BRCA1NM_007294.3(BRCA1): c.3761_3762insTT (p.Lys1254Asnfs)insertionPathogenicrs80357928GRCh37Chr 17, 41243786: 41243787
1032BRCA1NM_007294.3(BRCA1): c.3839_3843delCTCAGins4indelPathogenicrs273900717GRCh37Chr 17, 41243705: 41243709
1033BRCA1NM_007294.3(BRCA1): c.4054G> T (p.Glu1352Ter)single nucleotide variantPathogenicrs80357202GRCh37Chr 17, 41243494: 41243494
1034BRCA1NM_007294.3(BRCA1): c.4062_4065delTAAT (p.Asn1355Lysfs)deletionPathogenicrs398122679GRCh37Chr 17, 41243483: 41243486
1035BRCA1NM_007294.3(BRCA1): c.4094T> G (p.Leu1365Ter)single nucleotide variantPathogenicrs398122681GRCh37Chr 17, 41243454: 41243454
1036BRCA1NM_007294.3(BRCA1): c.4116_4117insTT (p.Glu1373Leufs)insertionPathogenicrs398122682GRCh37Chr 17, 41243029: 41243030
1037BRCA1NM_007294.3(BRCA1): c.4155_4156ins10 (p.?)insertionPathogenicrs483353079GRCh37Chr 17, 41242990: 41242991
1038BRCA1NM_007294.3(BRCA1): c.4354A> T (p.Lys1452Ter)single nucleotide variantPathogenicrs398122685GRCh37Chr 17, 41234424: 41234424
1039BRCA1NM_007294.3(BRCA1): c.4357+2T> Gsingle nucleotide variantPathogenicrs80358152GRCh37Chr 17, 41234419: 41234419
1040BRCA1NM_007294.3(BRCA1): c.4493delC (p.Pro1498Leufs)deletionPathogenicrs398122687GRCh37Chr 17, 41226530: 41226530
1041BRCA1NM_007294.3(BRCA1): c.5075-3C> Gsingle nucleotide variantLikely pathogenicrs398122690GRCh37Chr 17, 41215971: 41215971
1042BRCA1NM_007294.3(BRCA1): c.5186delT (p.Leu1729Argfs)deletionPathogenicrs398122692GRCh37Chr 17, 41215357: 41215357
1043BRCA1NM_007294.3(BRCA1): c.5193+1G> Tsingle nucleotide variantPathogenicrs80358004GRCh37Chr 17, 41215349: 41215349
1044BRCA1NM_007294.3(BRCA1): c.5277+1delGdeletionPathogenicrs273901754GRCh37Chr 17, 41209068: 41209068
1045BRCA1NM_007294.3(BRCA1): c.5468-2A> Gsingle nucleotide variantLikely pathogenicrs398122699GRCh38Chr 17, 43045804: 43045804
1046BRCA1NM_007294.3(BRCA1): c.670+1G> Tsingle nucleotide variantPathogenicrs398122706GRCh37Chr 17, 41247862: 41247862
1047BRCA1NM_007294.3(BRCA1): c.81-1G> Asingle nucleotide variantPathogenicrs80358018GRCh37Chr 17, 41267797: 41267797
1048BRCA1NM_007294.3(BRCA1): c.936delC (p.Leu313Terfs)deletionPathogenicrs398122709GRCh37Chr 17, 41246612: 41246612
1049BRCA1NP_009225.1: p.Ala521Terprotein onlyPathogenic
1050BRCA1NP_009225.1: p.Cys39Serprotein onlyPathogenic
1051BRCA1NP_009225.1: p.Gly1738Argprotein onlyPathogenic
1052BRCA1NP_009225.1: p.Leu1230Terprotein onlyPathogenic
1053BRCA1NP_009225.1: p.Leu598Terprotein onlyPathogenic
1054BRCA1NP_009225.1: p.Ser1383Terprotein onlyPathogenic
1055BRCA1NP_009225.1: p.Ser868Terprotein onlyPathogenic
1056BRCA1NP_009225.1: p.Trp1508Terprotein onlyPathogenic
1057BRCA1NP_009225.1: p.Trp1782Terprotein onlyPathogenic
1058BRCA1NP_009225.1: p.Trp1815Terprotein onlyPathogenic
1059BRCA1NP_009225.1: p.Trp1837Argprotein onlyLikely pathogenic
1060BRCA1NP_009225.1: p.Trp321Terprotein onlyPathogenic
1061BRCA1NP_009225.1: p.Tyr1563Terprotein onlyPathogenic
1062BRCA1NP_009225.1: p.Tyr1703Terprotein onlyPathogenic
1063BRCA1NP_009225.1: p.Tyr261Terprotein onlyPathogenic
1064BRCA2NM_000059.3(BRCA2): c.2808_2811del4 (p.Ala938Profs)deletionPathogenicrs80359351GRCh37Chr 13, 32911300: 32911303
1065BRCA2NM_000059.3(BRCA2): c.658_659delGT (p.Val220Ilefs)deletionPathogenic, risk factorrs80359604GRCh37Chr 13, 32903606: 32903607
1066BRCA2NM_000059.3(BRCA2): c.9196C> T (p.Gln3066Ter)single nucleotide variantPathogenicrs80359180GRCh37Chr 13, 32954222: 32954222
1067BRCA2NM_000059.3(BRCA2): c.7985C> A (p.Thr2662Lys)single nucleotide variantPathogenicrs431825362GRCh37Chr 13, 32937324: 32937324
1068BRCA1NM_007294.3(BRCA1): c.*102_*105delCTGTdeletionPathogenicrs431825382GRCh37Chr 17, 41197590: 41197593
1069BRCA1NM_007294.3(BRCA1): c.1148_1149delAT (p.Asn383Argfs)deletionPathogenicrs431825384GRCh37Chr 17, 41246399: 41246400
1070BRCA1NM_007294.3(BRCA1): c.1214C> G (p.Ser405Ter)single nucleotide variantPathogenicrs80357481GRCh37Chr 17, 41246334: 41246334
1071BRCA1NM_007294.3(BRCA1): c.1298_1299ins4insertionPathogenicrs483353083GRCh37Chr 17, 41246249: 41246250
1072BRCA1NM_007294.3(BRCA1): c.130dupT (p.Cys44Leufs)duplicationPathogenicrs431825385GRCh37Chr 17, 41267747: 41267747
1073BRCA1NM_007294.3(BRCA1): c.134+5G> Tsingle nucleotide variantLikely pathogenicrs80358038GRCh37Chr 17, 41267738: 41267738
1074BRCA1NM_007294.3(BRCA1): c.1434delT (p.Glu479Lysfs)deletionPathogenicrs431825386GRCh37Chr 17, 41246114: 41246114
1075BRCA1NM_007294.3(BRCA1): c.1579_1580delAA (p.Lys527Aspfs)deletionPathogenicrs431825387GRCh37Chr 17, 41245968: 41245969
1076BRCA1NM_007294.3(BRCA1): c.2001dupA (p.Leu668Thrfs)duplicationPathogenicrs80357521GRCh37Chr 17, 41245547: 41245547
1077BRCA1NM_007294.3(BRCA1): c.2101_2102delAA (p.Lys701Valfs)deletionPathogenicrs431825389GRCh37Chr 17, 41245446: 41245447
1078BRCA1NM_007294.3(BRCA1): c.2332_2333insTG (p.Gly778Valfs)insertionPathogenicrs431825390GRCh37Chr 17, 41245215: 41245216
1079BRCA1NM_007294.3(BRCA1): c.368delC (p.Ser123Leufs)deletionPathogenicrs431825397GRCh37Chr 17, 41256212: 41256212
1080BRCA1NM_007294.3(BRCA1): c.3759delT (p.Lys1254Argfs)deletionPathogenicrs431825398GRCh37Chr 17, 41243789: 41243789
1081BRCA1NM_007294.3(BRCA1): c.4038_4041delAAGA (p.Arg1347Glufs)deletionPathogenicrs431825404GRCh37Chr 17, 41243507: 41243510
1082BRCA1NM_007294.3(BRCA1): c.4072G> T (p.Glu1358Ter)single nucleotide variantPathogenicrs397509136GRCh37Chr 17, 41243476: 41243476
1083BRCA1NM_007294.3(BRCA1): c.4185+2T> Asingle nucleotide variantPathogenicrs431825406GRCh37Chr 17, 41242959: 41242959
1084BRCA1NM_007294.3(BRCA1): c.4348dupT (p.Ser1450Phefs)duplicationPathogenicrs80357548GRCh37Chr 17, 41234430: 41234430
1085BRCA1NM_007294.3(BRCA1): c.4450_4451ins4insertionPathogenicrs483353084GRCh37Chr 17, 41228538: 41228539
1086BRCA1NM_007294.3(BRCA1): c.4587_4590delTAAG (p.Ile1529Metfs)deletionPathogenicrs431825409GRCh37Chr 17, 41226433: 41226436
1087BRCA1NM_007294.3(BRCA1): c.4986+5G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs397509211GRCh37Chr 17, 41222940: 41222940
1088BRCA1NM_007294.3(BRCA1): c.5026_5030delTTAAC (p.Leu1676Terfs)deletionPathogenicrs431825410GRCh37Chr 17, 41219669: 41219673
1089BRCA1NM_007294.3(BRCA1): c.5193+1G> Asingle nucleotide variantPathogenicrs80358004GRCh37Chr 17, 41215349: 41215349
1090BRCA1NM_007294.3(BRCA1): c.5268_5269insC (p.Asp1757Argfs)insertionPathogenicrs431825414GRCh37Chr 17, 41209077: 41209078
1091BRCA1NM_007294.3(BRCA1): c.5467+3A> Csingle nucleotide variantPathogenicrs431825417GRCh37Chr 17, 41199657: 41199657
1092BRCA1NM_007294.3(BRCA1): c.5479_5480insGA (p.Met1827Argfs)insertionPathogenicrs80357757GRCh37Chr 17, 41197807: 41197808
1093BRCA1NP_009225.1: p.Leu1086Terprotein onlyPathogenic
1094BRCA1NP_009225.1: p.Leu63Terprotein onlyPathogenic
1095BRCA1NP_009225.1: p.Ser1007Terprotein onlyPathogenic
1096BRCA1NP_009225.1: p.Ser713Terprotein onlyPathogenic
1097BRCA1NP_009225.1: p.Trp1712Terprotein onlyPathogenic

Expression for genes affiliated with Breast-Ovarian Cancer, Familial, 1

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Search GEO for disease gene expression data for Breast-Ovarian Cancer, Familial, 1.

Pathways for genes affiliated with Breast-Ovarian Cancer, Familial, 1

About this section

Pathways related to Breast-Ovarian Cancer, Familial, 1 according to GeneCards Suite gene sharing:

(show all 18)
idSuper pathwaysScoreTop Affiliating Genes
19.3BRCA1, NBN
2
Show member pathways
9.3BRCA1, NBN
3
Show member pathways
9.3BRCA1, NBN
4
Show member pathways
9.3BRCA1, NBN
59.3BRCA1, NBN
69.3BRCA1, NBN
79.1BRCA2, NBN
89.0BRCA1, BRCA2
99.0BRCA1, BRCA2
10
Show member pathways
9.0BRCA1, BRCA2
11
Show member pathways
8.5BRCA1, BRCA2, NBN
12
Show member pathways
8.5BRCA1, BRCA2, NBN
13
Show member pathways
8.5BRCA1, BRCA2, NBN
148.5BRCA1, BRCA2, NBN
15
Show member pathways
8.5BRCA1, BRCA2, NBN
16
Show member pathways
8.5BRCA1, BRCA2, NBN
17
Show member pathways
8.5BRCA1, BRCA2, NBN
18
Show member pathways
8.5BRCA1, BRCA2, NBN

GO Terms for genes affiliated with Breast-Ovarian Cancer, Familial, 1

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Biological processes related to Breast-Ovarian Cancer, Familial, 1 according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1DNA recombinationGO:00063109.3BRCA1, BRCA2
2DNA replicationGO:00062609.3BRCA1, NBN
3double-strand break repair via homologous recombinationGO:00007249.3BRCA1, BRCA2
4strand displacementGO:00007329.3BRCA2, NBN
5intrinsic apoptotic signaling pathway in response to DNA damageGO:00086309.3BRCA1, BRCA2
6DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:00069789.3BRCA1, BRCA2
7response to nutrientGO:00075849.3BRCA1, BRCA2
8chordate embryonic developmentGO:00430099.1BRCA1, BRCA2
9DNA synthesis involved in DNA repairGO:00007318.8BRCA1, BRCA2, NBN
10double-strand break repair via synthesis-dependent strand annealingGO:00450038.7BRCA1, BRCA2, NBN
11cellular response to DNA damage stimulusGO:00069748.2BRCA1, BRCA2, NBN

Sources for Breast-Ovarian Cancer, Familial, 1

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet