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 50 68 12
Ovarian Cancer Familial 1 68
 
Breast Cancer Familial 1 68
Brovca1 68

Characteristics:

HPO:

62
breast-ovarian cancer, familial, 1:
Inheritance: autosomal dominant inheritance, multifactorial inheritance


Classifications:



External Ids:

OMIM50 604370

Summaries for Breast-Ovarian Cancer, Familial, 1

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UniProtKB/Swiss-Prot:68 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 (BRCA1, DNA Repair Associated), and among its related pathways are ATM Pathway and p53 signaling pathway. Affiliated tissues include breast, prostate and ovary, and related mouse phenotypes are neoplasm and embryo.

Description from OMIM:50 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 47)
idRelated DiseaseScoreTop Affiliating Genes
1brca1 hereditary breast and ovarian cancer syndrome11.0
2peroxisome biogenesis disorder 5a10.0BRCA1, NBN
3congenital pulmonary veins atresia or stenosis9.8BRCA1, BRCA2
4bronchopulmonary dysplasia9.8BRCA1, BRCA2
5cutaneous lupus erythematosus9.8BRCA1, BRCA2
6autoimmune disease of blood9.8BRCA1, BRCA2
7selective ige deficiency disease9.8BRCA1, BRCA2
8familial breast cancer9.8BRCA1, BRCA2
9cervical serous adenocarcinoma9.8BRCA1, BRCA2
10fat necrosis of breast9.8BRCA1, BRCA2
11amyloid tumor9.8BRCA1, BRCA2
12ovarian brenner tumor9.8BRCA1, BRCA2
13fallopian tube germ cell cancer9.8BRCA1, BRCA2
14rectum mucinous adenocarcinoma9.8BRCA1, BRCA2
15chronic frontal sinusitis9.8BRCA1, BRCA2
16papillary adenofibroma9.8BRCA1, BRCA2
17internal auditory canal lipoma9.8BRCA1, BRCA2
18ovarian cancer, somatic9.8BRCA1, BRCA2
19spindle cell synovial sarcoma9.8BRCA1, BRCA2
20leiomyosarcoma9.8BRCA1, BRCA2
21breast squamous cell carcinoma9.8BRCA1, BRCA2
22distal monosomy 9p9.8BRCA1, BRCA2
23mediastinal neurilemmoma9.8BRCA1, BRCA2
24myasthenia gravis, limb-girdle9.7BRCA1, BRCA2
25ductal carcinoma in situ9.7BRCA1, BRCA2
26dental caries9.7BRCA1, BRCA2
27milker's nodule9.7BRCA1, BRCA2
28ovarian wilms' cancer9.7BRCA1, BRCA2
29lung carcinoma in situ9.7BRCA1, BRCA2
30pineal region meningioma9.7BRCA1, BRCA2
31estrogen-receptor negative breast cancer9.7BRCA1, BRCA2
32lipoma of the rectum9.6BRCA1, BRCA2
33trachea sarcoma9.6BRCA1, BRCA2
34brittle bone syndrome lethal type9.6BRCA1, BRCA2
35dysostosis9.6BRCA1, BRCA2
36bejel9.5BRCA1, BRCA2
37nasopharyngeal carcinoma9.5BRCA1, BRCA2
38arthrogryposis, renal dysfunction, and cholestasis 19.4BRCA1, BRCA2
39breast cancer, childhood9.3BRCA1, BRCA2, NBN
40lethal congenital contracture syndrome 79.3BRCA1, BRCA2, NBN
41visual cortex disease9.3BRCA1, BRCA2, NBN
42tumor predisposition syndrome9.3BRCA1, BRCA2, NBN
43short-rib thoracic dysplasia 3 with or without polydactyly9.3BRCA1, BRCA2, NBN
44brachyolmia9.3BRCA1, BRCA2
45lymphedema-distichiasis syndrome9.3BRCA1, BRCA2, NBN
46hidrocystoma9.1BRCA1, BRCA2
47prostate cancer8.9BRCA1, 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:

34
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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.7BRCA1, BRCA2, NBN
2MP:00053808.7BRCA1, 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:

68
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 1,134)
id Gene Variation Type Significance SNP ID Assembly Location
1BRCA1undetermined variantPathogenic
2BRCA1undetermined variantPathogenic
3BRCA1undetermined variantPathogenic
4BRCA1NM_007294.3(BRCA1): c.882delA (p.Asp295Thrfs)deletionPathogenicrs80357587GRCh37Chr 17, 41246666: 41246666
5BRCA1undetermined variantPathogenic
6BRCA1NM_007294.3(BRCA1): c.902_903insT (p.Lys301Asnfs)insertionPathogenicrs80357726GRCh37Chr 17, 41246645: 41246646
7BRCA1NM_007294.3(BRCA1): c.953_954insTG (p.Asn319Valfs)insertionPathogenicrs80357690GRCh37Chr 17, 41246594: 41246595
8BRCA1NM_007294.3(BRCA1): c.984_985insC (p.Asn329Glnfs)insertionPathogenicrs80357775GRCh38Chr 17, 43094546: 43094547
9BRCA1NM_007294.3(BRCA1): c.1101_1102insC (p.Glu368Argfs)insertionPathogenicrs80357665GRCh38Chr 17, 43094429: 43094430
10BRCA1NM_007294.3(BRCA1): c.1129dupA (p.Ser377Lysfs)duplicationPathogenicrs80357776GRCh38Chr 17, 43094402: 43094402
11BRCA1NM_007294.3(BRCA1): c.19_47del29 (p.Arg7Cysfs)deletionPathogenicrs80359871GRCh37Chr 17, 41276067: 41276095
12BRCA1NM_007294.3(BRCA1): c.1356delA (p.Glu453Argfs)deletionPathogenicrs80357939GRCh38Chr 17, 43094175: 43094175
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)insertionPathogenicrs80357778GRCh38Chr 17, 43094090: 43094091
16BRCA1NM_007294.3(BRCA1): c.1462dupA (p.Thr488Asnfs)duplicationPathogenicrs80357599GRCh37Chr 17, 41246086: 41246086
17BRCA1NM_007294.3(BRCA1): c.1518delG (p.Arg507Aspfs)deletionPathogenicrs80357947GRCh37Chr 17, 41246030: 41246030
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)duplicationPathogenicrs273897664GRCh38Chr 17, 43093836: 43093836
21BRCA1NM_007294.3(BRCA1): c.1700dupA (p.Asn567Lysfs)duplicationPathogenicrs80357784GRCh37Chr 17, 41245848: 41245848
22BRCA1NM_007294.3(BRCA1): c.70_71insA (p.Cys24Terfs)insertionPathogenicrs80357536GRCh38Chr 17, 43124026: 43124027
23BRCA1NM_007294.3(BRCA1): c.70_71insTGTC (p.Cys24Leufs)insertionPathogenicrs80357536GRCh38Chr 17, 43124026: 43124027
24BRCA1NM_007294.3(BRCA1): c.1812delA (p.Ala605Hisfs)deletionPathogenicrs80357927GRCh38Chr 17, 43093719: 43093719
25BRCA1NM_007294.3(BRCA1): c.80+1G> Csingle nucleotide variantPathogenicrs80358010GRCh38Chr 17, 43124016: 43124016
26BRCA1NM_007294.3(BRCA1): c.80+1G> Tsingle nucleotide variantPathogenicrs80358010GRCh37Chr 17, 41276033: 41276033
27BRCA1NM_007294.3(BRCA1): c.80+2T> Gsingle nucleotide variantPathogenicrs80358128GRCh38Chr 17, 43124015: 43124015
28BRCA1NM_007294.3(BRCA1): c.1893_1894insT (p.Ser632Terfs)insertionPathogenicrs80357768GRCh38Chr 17, 43093637: 43093638
29BRCA1NM_007294.3(BRCA1): c.2038_2039insCC (p.Lys680Thrfs)insertionPathogenicrs80357940GRCh38Chr 17, 43093492: 43093493
30BRCA1NM_007294.3(BRCA1): c.2077_2078insTA (p.Asp693Valfs)insertionPathogenicrs80357595GRCh38Chr 17, 43093453: 43093454
31BRCA1U14680.1: n.2294delGdeletionPathogenic
32BRCA1NM_007294.3(BRCA1): c.2188dupG (p.Glu730Glyfs)duplicationPathogenicrs80357566GRCh38Chr 17, 43093343: 43093343
33BRCA1NM_007294.3(BRCA1): c.2214delT (p.Val740Cysfs)deletionPathogenicrs80357574GRCh37Chr 17, 41245334: 41245334
34BRCA1NM_007294.3(BRCA1): c.2215_2216insCT (p.Lys739Thrfs)insertionPathogenicrs80357930GRCh38Chr 17, 43093315: 43093316
35BRCA1NM_007294.3(BRCA1): c.2217dupA (p.Val740Serfs)duplicationPathogenicrs80357802GRCh37Chr 17, 41245331: 41245331
36BRCA1NM_007294.3(BRCA1): c.2256_2257insTA (p.Ser753Terfs)insertionPathogenicrs80357557GRCh38Chr 17, 43093274: 43093275
37BRCA1NM_007294.3(BRCA1): c.2273dupT (p.Leu758Phefs)duplicationPathogenicrs80357681GRCh38Chr 17, 43093258: 43093258
38BRCA1NM_007294.3(BRCA1): c.2309C> T (p.Ser770Leu)single nucleotide variantPathogenicrs80357063GRCh37Chr 17, 41245239: 41245239
39BRCA1NM_007294.3(BRCA1): c.2337_2338delTC (p.Gln780Glyfs)deletionPathogenicrs80357515GRCh38Chr 17, 43093193: 43093194
40BRCA1NM_007294.3(BRCA1): c.2355dupA (p.Leu786Thrfs)duplicationPathogenicrs80357990GRCh38Chr 17, 43093176: 43093176
41BRCA1U14680.1: n.2494delCdeletionPathogenic
42BRCA1NM_007294.3(BRCA1): c.2376delG (p.Lys793Argfs)deletionPathogenicrs80357913GRCh37Chr 17, 41245172: 41245172
43BRCA1U14680.1: n.252_256del5insTinsertionPathogenic
44BRCA1NM_007294.3(BRCA1): c.134+1G> Csingle nucleotide variantPathogenicrs80358043GRCh38Chr 17, 43115725: 43115725
45BRCA1NM_007294.3(BRCA1): c.135-2A> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs80358065GRCh37Chr 17, 41258552: 41258552
46BRCA1NM_007294.3(BRCA1): c.2438dupG (p.Leu814Thrfs)duplicationPathogenicrs80357503GRCh38Chr 17, 43093093: 43093093
47BRCA1NM_007294.3(BRCA1): c.139dupT (p.Cys47Leufs)duplicationPathogenicrs80357734GRCh38Chr 17, 43106529: 43106529
48BRCA1NM_007294.3(BRCA1): c.2474dupA (p.Asp825Glufs)duplicationPathogenicrs80357830GRCh38Chr 17, 43093057: 43093057
49BRCA1U14680.1: n.2607dupAAGTATCCATduplicationPathogenic
50BRCA1NM_007294.3(BRCA1): c.2586_2593delGGTTTCAA (p.Val863Alafs)deletionPathogenicrs80357675GRCh38Chr 17, 43092938: 43092945
51BRCA1NM_007294.3(BRCA1): c.2604_2605insGTCA (p.Phe869Valfs)insertionPathogenicrs80357603GRCh37Chr 17, 41244943: 41244944
52BRCA1NM_007294.3(BRCA1): c.2658_2659insA (p.Ala887Serfs)insertionPathogenicrs80357541GRCh37Chr 17, 41244889: 41244890
53BRCA1NM_007294.3(BRCA1): c.2686delA (p.Ser896Valfs)deletionPathogenicrs273899687GRCh37Chr 17, 41244862: 41244862
54BRCA1NM_007294.3(BRCA1): c.166_167insGA (p.Lys56Argfs)insertionPathogenicrs80357550GRCh38Chr 17, 43106501: 43106502
55BRCA1NM_007294.3(BRCA1): c.171delG (p.Pro58Leufs)deletionPathogenicrs80357660GRCh38Chr 17, 43106497: 43106497
56BRCA1NM_007294.3(BRCA1): c.2799delT (p.Gln934Argfs)deletionPathogenicrs80357998GRCh38Chr 17, 43092732: 43092732
57BRCA1NM_007294.3(BRCA1): c.2868delT (p.Gln957Serfs)deletionPathogenicrs80357929GRCh37Chr 17, 41244680: 41244680
58BRCA1NM_007294.3(BRCA1): c.2871_2872insA (p.Phe958Ilefs)insertionPathogenicrs80357693GRCh38Chr 17, 43092659: 43092660
59BRCA1NM_007294.3(BRCA1): c.2889_2890delTG (p.Gly964Thrfs)deletionPathogenicrs80357890GRCh38Chr 17, 43092641: 43092642
60BRCA1NM_007294.3(BRCA1): c.2995_2996delCTinsTA (p.Leu999Ter)indelPathogenicrs273899692GRCh38Chr 17, 43092535: 43092536
61BRCA1NM_007294.3(BRCA1): c.3044dupG (p.Asn1016Lysfs)duplicationPathogenicrs80357746GRCh38Chr 17, 43092487: 43092487
62BRCA1NM_007294.3(BRCA1): c.3053_3054insTGAGA (p.Ile1019Glufs)insertionPathogenicrs80357547GRCh37Chr 17, 41244494: 41244495
63BRCA1NM_007294.3(BRCA1): c.3100_3101insTAACATTAGAGAAA (p.Asn1034Ilefs)insertionPathogenicrs80357967GRCh38Chr 17, 43092430: 43092431
64BRCA1NM_007294.3(BRCA1): c.204dupA (p.Thr69Asnfs)duplicationPathogenicrs273898673GRCh38Chr 17, 43106464: 43106464
65BRCA1NM_007294.3(BRCA1): c.3114_3117delAGCCinsGA (p.Ala1039Lysfs)indelPathogenicrs273899700GRCh37Chr 17, 41244431: 41244434
66BRCA1U14680.1: n.3235_3238delCAGCdeletionPathogenic
67BRCA1NM_007294.3(BRCA1): c.3158_3159insG (p.Val1054Serfs)insertionPathogenicrs80357769GRCh38Chr 17, 43092372: 43092373
68U14680.1: n.331+1G> A,del22deletionPathogenic
69BRCA1NM_007294.3(BRCA1): c.3194_3195insG (p.Asp1065Glufs)insertionPathogenicrs80357883GRCh38Chr 17, 43092336: 43092337
70BRCA1NM_007294.3(BRCA1): c.213-3C> Gsingle nucleotide variantPathogenicrs80358119GRCh38Chr 17, 43104959: 43104959
71BRCA1NM_007294.3(BRCA1): c.3256_3257insGA (p.Leu1086Terfs)insertionPathogenicrs80357764GRCh38Chr 17, 43092274: 43092275
72BRCA1NM_007294.3(BRCA1): c.3288_3289ins46 (p.?)insertionPathogenicrs483353088GRCh37Chr 17, 41244259: 41244260
73BRCA1NM_007294.3(BRCA1): c.3330_3331insA (p.Gln1111Thrfs)insertionPathogenicrs80357996GRCh37Chr 17, 41244217: 41244218
74BRCA1NM_007294.3(BRCA1): c.3351dupT (p.Gln1118Serfs)duplicationPathogenicrs80357785GRCh38Chr 17, 43092180: 43092180
75BRCA1NM_007294.3(BRCA1): c.3357delT (p.Val1120Leufs)deletionPathogenicrs80357827GRCh37Chr 17, 41244191: 41244191
76BRCA1NM_007294.3(BRCA1): c.3462dupA (p.Asp1155Argfs)duplicationPathogenicrs80357857GRCh38Chr 17, 43092069: 43092069
77BRCA1NM_007294.3(BRCA1): c.3516_3517ins100 (p.?)insertionPathogenicGRCh38Chr 17, 43092014: 43092015
78BRCA1NM_007294.3(BRCA1): c.3548_3549delAA (p.Lys1183Argfs)deletionPathogenicrs80357956GRCh37Chr 17, 41243999: 41244000
79BRCA1NM_007294.3(BRCA1): c.3571_3572ins4insertionPathogenicrs483353089GRCh38Chr 17, 43091959: 43091960
80BRCA1U14680.1: n.3702delAdeletionPathogenic
81BRCA1NM_007294.3(BRCA1): c.3593_3594insTT (p.Leu1198Phefs)insertionPathogenicrs80357562GRCh37Chr 17, 41243954: 41243955
82BRCA1NM_007294.3(BRCA1): c.3620dupA (p.Lys1208Glufs)duplicationPathogenicrs80357926GRCh38Chr 17, 43091911: 43091911
83BRCA1NM_007294.3(BRCA1): c.3649_3650insA (p.Ser1217Tyrfs)insertionPathogenicrs80357831GRCh38Chr 17, 43091881: 43091882
84BRCA1NM_007294.3(BRCA1): c.3766dupA (p.Thr1256Asnfs)duplicationPathogenicrs80357704GRCh38Chr 17, 43091765: 43091765
85BRCA1NM_007294.3(BRCA1): c.3771_3772delGG (p.Asn1259Phefs)deletionPathogenicrs80357810GRCh37Chr 17, 41243776: 41243777
86BRCA1NM_007294.3(BRCA1): c.3778_3779insA (p.Leu1260Tyrfs)insertionPathogenicrs80357849GRCh37Chr 17, 41243769: 41243770
87BRCA1NM_007294.3(BRCA1): c.3830dupC (p.Ala1279Glyfs)duplicationPathogenicrs80357878GRCh37Chr 17, 41243718: 41243718
88BRCA1NM_007294.3(BRCA1): c.3867_3871delAAAAT (p.Lys1290Phefs)deletionPathogenicrs80357560GRCh37Chr 17, 41243677: 41243681
89BRCA1NM_007294.3(BRCA1): c.3908dupT (p.Leu1303Phefs)duplicationPathogenicrs80357634GRCh38Chr 17, 43091623: 43091623
90BRCA1NM_007294.3(BRCA1): c.288_292delCACAGins7indelPathogenicrs483353091GRCh37Chr 17, 41256894: 41256898
91BRCA1NM_007294.3(BRCA1): c.301+2_301+3insTinsertionPathogenicrs273899694GRCh38Chr 17, 43104865: 43104866
92BRCA1NM_007294.3(BRCA1): c.302-1G> Tsingle nucleotide variantPathogenicrs80358116GRCh37Chr 17, 41256279: 41256279
93BRCA1NM_007294.3(BRCA1): c.302-2A> Tsingle nucleotide variantPathogenicrs80358011GRCh38Chr 17, 43104263: 43104263
94BRCA1NM_007294.3(BRCA1): c.302-2_302-1deldeletionPathogenicrs483353093GRCh38Chr 17, 43104262: 43104263
95BRCA1NM_007294.3(BRCA1): c.4110_4111delTG (p.Gly1371Valfs)deletionPathogenicrs80357529GRCh38Chr 17, 43091018: 43091019
96BRCA1NM_007294.3(BRCA1): c.4111_4112insATCT (p.Gly1371Aspfs)insertionPathogenicrs80357935GRCh37Chr 17, 41243034: 41243035
97BRCA1NM_007294.3(BRCA1): c.4113delG (p.Cys1372Valfs)deletionPathogenicrs80357861GRCh38Chr 17, 43091016: 43091016
98BRCA1NM_007294.3(BRCA1): c.4128_4129delAA (p.Ser1377Argfs)deletionPathogenicrs80357921GRCh37Chr 17, 41243017: 41243018
99BRCA1NM_007294.3(BRCA1): c.4163dupA (p.Ser1389Glufs)duplicationPathogenicrs80357788GRCh38Chr 17, 43090966: 43090966
100BRCA1NM_007294.3(BRCA1): c.4167_4168insAG (p.Asp1390Argfs)insertionPathogenicrs80357847GRCh37Chr 17, 41242978: 41242979
101BRCA1U14680.1: n.4305-1643_del3835deletionPathogenic
102BRCA1NM_007294.3(BRCA1): c.4214delT (p.Ile1405Lysfs)deletionPathogenicrs273900728GRCh37Chr 17, 41234564: 41234564
103BRCA1NM_007294.3(BRCA1): c.4285_4286insG (p.Tyr1429Terfs)insertionPathogenicrs80357716GRCh37Chr 17, 41234492: 41234493
104BRCA1NM_007294.3(BRCA1): c.4289dupC (p.Ser1431Phefs)duplicationPathogenicrs80357556GRCh38Chr 17, 43082472: 43082472
105BRCA1NM_007294.3(BRCA1): c.4338_4339ins4insertionPathogenicrs397509164GRCh38Chr 17, 43082422: 43082423
106BRCA1NM_007294.3(BRCA1): c.4463dupA (p.Asn1488Lysfs)duplicationPathogenicrs80357620GRCh37Chr 17, 41228526: 41228526
107BRCA1NM_007294.3(BRCA1): c.4644_4645ins8insertionPathogenicrs483353094GRCh38Chr 17, 43074361: 43074362
108BRCA1NM_007294.3(BRCA1): c.4675+3A> Tsingle nucleotide variantPathogenicrs80358082GRCh37Chr 17, 41226345: 41226345
109BRCA1NM_007294.3(BRCA1): c.4676-1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs80358008GRCh38Chr 17, 43071239: 43071239
110BRCA1NM_007294.3(BRCA1): c.4676-2A> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs80358096GRCh38Chr 17, 43071240: 43071240
111BRCA1NM_007294.3(BRCA1): c.4696_4697insA (p.Ser1566Tyrfs)insertionPathogenicrs483353095GRCh38Chr 17, 43071217: 43071218
112BRCA1NM_007294.3(BRCA1): c.4764_4765delTC (p.Arg1589Cysfs)deletionPathogenicrs80357795GRCh38Chr 17, 43071149: 43071150
113BRCA1NM_007294.3(BRCA1): c.4843dupG (p.Ala1615Glyfs)duplicationPathogenicrs80357615GRCh38Chr 17, 43071071: 43071071
114BRCA1NM_007294.3(BRCA1): c.4891dupA (p.Ser1631Lysfs)duplicationPathogenicrs80357656GRCh37Chr 17, 41223040: 41223040
115BRCA1NM_007294.3(BRCA1): c.4933_4934insAA (p.Arg1645Lysfs)insertionPathogenicrs80357833GRCh38Chr 17, 43070980: 43070981
116BRCA1NM_007294.3(BRCA1): c.4944_4945delAA (p.Arg1649Asnfs)deletionPathogenicrs80357655GRCh38Chr 17, 43070969: 43070970
117BRCA1NM_007294.3(BRCA1): c.4986+1G> Asingle nucleotide variantPathogenicrs80358162GRCh37Chr 17, 41222944: 41222944
118BRCA1U14680.1: n.5106-1A> Gsingle nucleotide variantPathogenic
119BRCA1NM_007294.3(BRCA1): c.5007_5008ins13 (p.?)insertionPathogenicrs483353097GRCh37Chr 17, 41219691: 41219692
120BRCA1NM_007294.3(BRCA1): c.5033_5034ins4insertionPathogenicrs483353098GRCh37Chr 17, 41219665: 41219666
121BRCA1NM_007294.3(BRCA1): c.5056dupC (p.His1686Profs)duplicationPathogenicrs80357974GRCh38Chr 17, 43067626: 43067626
122BRCA1NM_007294.3(BRCA1): c.5075-1G> Csingle nucleotide variantPathogenicrs1800747GRCh38Chr 17, 43063952: 43063952
123BRCA1NM_007294.3(BRCA1): c.5098delA (p.Thr1700Hisfs)deletionPathogenicrs483353099GRCh38Chr 17, 43063928: 43063928
124BRCA1NM_007294.3(BRCA1): c.5145delC (p.Tyr1716Ilefs)deletionPathogenicrs80357870GRCh38Chr 17, 43063881: 43063881
125BRCA1NM_007294.3(BRCA1): c.5152+1G> Asingle nucleotide variantPathogenicrs80358094GRCh37Chr 17, 41215890: 41215890
126BRCA1NM_007294.3(BRCA1): c.5152+3_5152+4insTinsertionPathogenicrs273901744GRCh37Chr 17, 41215887: 41215888
127BRCA1U14680.1: n.5312+3_del13deletionPathogenic
128BRCA1NM_007294.3(BRCA1): c.5194-1G> Asingle nucleotide variantPathogenicrs80358173GRCh37Chr 17, 41209153: 41209153
129BRCA1NM_007294.3(BRCA1): c.5241delA (p.Gly1748Valfs)deletionPathogenicrs80357791GRCh37Chr 17, 41209105: 41209105
130BRCA1U14680.1: n.5389_5395delCAGAAAGdeletionPathogenic
131BRCA1U14680.1: n.5396+1_del6deletionPathogenic
132BRCA1NM_007294.3(BRCA1): c.5304delC (p.Tyr1769Metfs)deletionPathogenicrs80357959GRCh38Chr 17, 43051091: 43051091
133BRCA1U14680.1: n.5430_5452del23deletionPathogenic
134BRCA1NM_007294.3(BRCA1): c.5332+2T> Asingle nucleotide variantPathogenicrs80358182GRCh38Chr 17, 43051061: 43051061
135BRCA1U14680.1: n.5452-36_del510deletionPathogenic
136BRCA1NM_007294.3(BRCA1): c.5352dupA (p.Gln1785Thrfs)duplicationPathogenicrs80357744GRCh38Chr 17, 43049175: 43049175
137BRCA1NM_007294.3(BRCA1): c.5370_5397del28 (p.Val1791Leufs)deletionPathogenicrs80359878GRCh37Chr 17, 41201147: 41201174
138BRCA1NM_007294.3(BRCA1): c.5406+2deldeletionPathogenicrs273901765GRCh38Chr 17, 43049119: 43049119
139BRCA1NM_007294.3(BRCA1): c.5407-1G> Asingle nucleotide variantPathogenicrs80358029GRCh37Chr 17, 41199721: 41199721
140BRCA1NM_007294.3(BRCA1): c.5407-1G> Csingle nucleotide variantPathogenicrs80358029GRCh38Chr 17, 43047704: 43047704
141BRCA1NM_007294.3(BRCA1): c.5407-2A> Tsingle nucleotide variantPathogenicrs80358002GRCh38Chr 17, 43047705: 43047705
142BRCA1NM_007294.3(BRCA1): c.5467+2T> Csingle nucleotide variantLikely pathogenic, Pathogenicrs80358009GRCh38Chr 17, 43047641: 43047641
143BRCA1NM_007294.3(BRCA1): c.5467+2T> Gsingle nucleotide variantPathogenicrs80358009GRCh37Chr 17, 41199658: 41199658
144BRCA1NM_007294.3(BRCA1): c.5468-1G> Asingle nucleotide variantPathogenicrs80358048GRCh38Chr 17, 43045803: 43045803
145BRCA1NM_007294.3(BRCA1): c.5468-40T> Asingle nucleotide variantPathogenicrs80358151GRCh37Chr 17, 41197859: 41197859
146BRCA1NM_007294.3(BRCA1): c.5490delA (p.Pro1831Leufs)deletionPathogenicrs80357976GRCh38Chr 17, 43045780: 43045780
147BRCA1NM_007294.3(BRCA1): c.442-2A> Csingle nucleotide variantPathogenicrs80358155GRCh38Chr 17, 43099882: 43099882
148BRCA1NM_007294.3(BRCA1): c.5498_5511delTGACCCGAGAGTGG (p.Val1833Glyfs)deletionPathogenicrs80359873GRCh38Chr 17, 43045759: 43045772
149BRCA1L824Xsingle nucleotide variantPathogenic
150BRCA1NM_007294.3(BRCA1): c.5534_5539delACCAGTins20 (p.?)indelPathogenicrs483353102GRCh37Chr 17, 41197748: 41197753
151BRCA1NM_007294.3(BRCA1): c.5563delAins6indelPathogenicrs483353103GRCh37Chr 17, 41197724: 41197724
152BRCA1NM_007294.3(BRCA1): c.456_457delCA (p.Ser153Cysfs)deletionPathogenicrs80357882GRCh38Chr 17, 43099865: 43099866
153BRCA1NM_007294.3(BRCA1): c.464delA (p.Gln155Hisfs)deletionPathogenicrs483353104GRCh37Chr 17, 41251875: 41251875
154BRCA1NM_007294.3(BRCA1): c.547+1G> Asingle nucleotide variantPathogenicrs80358030GRCh38Chr 17, 43099774: 43099774
155BRCA1NM_007294.3(BRCA1): c.625_626ins20 (p.?)insertionPathogenicrs483353106GRCh38Chr 17, 43095890: 43095891
156BRCA1NM_007294.3(BRCA1): c.668dupA (p.Ala224Glyfs)duplicationPathogenicrs80357537GRCh38Chr 17, 43095848: 43095848
157BRCA1NM_007294.3(BRCA1): c.671-1G> Tsingle nucleotide variantLikely pathogenic, Pathogenicrs80358020GRCh38Chr 17, 43094861: 43094861
158BRCA1NM_007294.3(BRCA1): c.807_808ins11 (p.?)insertionPathogenicrs483353107GRCh37Chr 17, 41246740: 41246741
159BRCA1NM_007294.3(BRCA1): c.833_834insA (p.His279Serfs)insertionPathogenicrs483353108GRCh38Chr 17, 43094697: 43094698
160BRCA1NM_007294.3(BRCA1): c.842_843insAG (p.Ser281Argfs)insertionPathogenicrs80357792GRCh37Chr 17, 41246705: 41246706
161BRCA1NM_007294.3(BRCA1): c.851_852ins7insertionPathogenicrs483353109GRCh38Chr 17, 43094679: 43094680
162BRCA1NM_007294.3(BRCA1): c.4401delG (p.Asn1468Ilefs)deletionPathogenicrs587781611GRCh37Chr 17, 41228588: 41228588
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.181T> G (p.Cys61Gly)single nucleotide variantPathogenicrs28897672GRCh37Chr 17, 41258504: 41258504
168BRCA1NM_007294.3(BRCA1): c.68_69delAG (p.Glu23Valfs)deletionPathogenicrs386833395GRCh37Chr 17, 41276047: 41276048
169BRCA1BRCA1, 59-BP INSinsertionPathogenic
170BRCA1NM_007294.3(BRCA1): c.1175_1214del40 (p.Leu392Glnfs)deletionPathogenicrs80359874GRCh37Chr 17, 41246334: 41246373
171BRCA1NM_007294.3(BRCA1): c.2296_2297delAG (p.Ser766Terfs)deletionPathogenicrs80357780GRCh37Chr 17, 41245251: 41245252
172BRCA1NM_007294.3(BRCA1): c.2681_2682delAA (p.Lys894Thrfs)deletionPathogenicrs80357971GRCh37Chr 17, 41244866: 41244867
173BRCA1NM_007294.3(BRCA1): c.3005delA (p.Asn1002Thrfs)deletionPathogenicrs80357601GRCh38Chr 17, 43092526: 43092526
174BRCA1NM_007294.3(BRCA1): c.3607C> T (p.Arg1203Ter)single nucleotide variantPathogenicrs62625308GRCh37Chr 17, 41243941: 41243941
175BRCA1NM_007294.3(BRCA1): c.3748G> T (p.Glu1250Ter)single nucleotide variantPathogenicrs28897686GRCh37Chr 17, 41243800: 41243800
176BRCA1NM_007294.3(BRCA1): c.3756_3759delGTCT (p.Ser1253Argfs)deletionPathogenicrs80357868GRCh37Chr 17, 41243789: 41243792
177BRCA1NM_007294.3(BRCA1): c.4065_4068delTCAA (p.Asn1355Lysfs)deletionPathogenicrs80357508GRCh37Chr 17, 41243480: 41243483
178BRCA1NM_007294.3(BRCA1): c.4327C> T (p.Arg1443Ter)single nucleotide variantPathogenicrs41293455GRCh37Chr 17, 41234451: 41234451
179BRCA1NM_007294.3(BRCA1): c.5266dupC (p.Gln1756Profs)duplicationPathogenicrs80357906GRCh37Chr 17, 41209082: 41209082
180BRCA1NM_007294.3(BRCA1): c.4966_4984del19 (p.Gly1656Leufs)deletionPathogenicrs80359884GRCh37Chr 17, 41222947: 41222965
181BRCA1NM_007294.3(BRCA1): c.2389G> T (p.Glu797Ter)single nucleotide variantPathogenicrs62625306GRCh37Chr 17, 41245159: 41245159
182BRCA1NM_007294.3(BRCA1): c.843_846delCTCA (p.Ser282Tyrfs)deletionLikely pathogenic, Pathogenicrs80357919GRCh37Chr 17, 41246702: 41246705
183BRCA1NM_007294.3(BRCA1): c.3481_3491delGAAGATACTAG (p.Glu1161Phefs)deletionPathogenicrs80357877GRCh37Chr 17, 41244057: 41244067
184BRCA1NM_007294.3(BRCA1): c.1556delA (p.Lys519Argfs)deletionPathogenicrs80357662GRCh37Chr 17, 41245992: 41245992
185BRCA1BRCA1, 1-BP DEL, 4153AdeletionPathogenic
186BRCA1BRCA1, 6-KB DUP, EX13insertionPathogenic
187BRCA1NM_007294.3(BRCA1): c.211A> G (p.Arg71Gly)single nucleotide variantLikely pathogenic, Pathogenicrs80357382GRCh37Chr 17, 41258474: 41258474
188BRCA1NM_007294.3(BRCA1): c.5324T> G (p.Met1775Arg)single nucleotide variantPathogenicrs41293463GRCh37Chr 17, 41203088: 41203088
189BRCA1NM_007294.3(BRCA1): c.5324T> A (p.Met1775Lys)single nucleotide variantPathogenicrs41293463GRCh37Chr 17, 41203088: 41203088
190BRCA1NM_007294.3(BRCA1): c.4837_4838delAGinsGCC (p.Ser1613Alafs)indelLikely pathogenicrs730880287GRCh38Chr 17, 43071076: 43071077
191BRCA1NM_007294.3(BRCA1): c.5133delA (p.Lys1711Asnfs)deletionLikely pathogenicrs730880288GRCh38Chr 17, 43063893: 43063893
192BRCA1NM_007294.3(BRCA1): c.3767_3768delCA (p.Thr1256Argfs)deletionPathogenicrs730881440GRCh38Chr 17, 43091763: 43091764
193BRCA1NM_007294.3(BRCA1): c.1860delT (p.His621Metfs)deletionPathogenicrs730881459GRCh38Chr 17, 43093671: 43093671
194BRCA1NM_007294.3(BRCA1): c.4987-1G> Asingle nucleotide variantPathogenicrs730881495GRCh38Chr 17, 43067696: 43067696
195BRCA1NM_007294.3(BRCA1): c.3511A> T (p.Lys1171Ter)single nucleotide variantPathogenicrs730882164GRCh37Chr 17, 41244037: 41244037
196BRCA1NM_007294.3(BRCA1): c.4998C> A (p.Tyr1666Ter)single nucleotide variantPathogenicrs730882165GRCh37Chr 17, 41219701: 41219701
197BRCA1NM_007294.3(BRCA1): c.5057A> G (p.His1686Arg)single nucleotide variantPathogenicrs730882166GRCh37Chr 17, 41219642: 41219642
198BRCA1NM_007294.3(BRCA1): c.5167delAinsTTT (p.Ile1723Phefs)indelPathogenicrs730882167GRCh37Chr 17, 41215376: 41215376
199BRCA1NM_007294.3(BRCA1): c.5194-?_5277+?deldeletionPathogenic
200BRCA1NM_007294.3(BRCA1): c.5359_5363delTGTGGinsAGTGA (p.Cys1787_Gly1788delinsSerAsp)indelPathogenicrs786203663GRCh37Chr 17, 41201181: 41201185
201BRCA1NM_007294.3(BRCA1): c.885_886delCA (p.Asp295Glufs)deletionPathogenicrs786204261GRCh37Chr 17, 41246662: 41246663
202BRCA1NM_007294.3(BRCA1): c.892_895dupAATG (p.Val299Glufs)duplicationPathogenicrs80357806GRCh37Chr 17, 41246653: 41246656
203BRCA1NM_007294.3(BRCA1): c.984_988delTAATG (p.Cys328Terfs)deletionLikely pathogenicrs786204262GRCh37Chr 17, 41246560: 41246564
204BRCA1NM_007294.3(BRCA1): c.2298dupT (p.Ser767Terfs)duplicationLikely pathogenicrs786204264GRCh37Chr 17, 41245250: 41245250
205BRCA1NM_007294.3(BRCA1): c.4218_4357+130dupduplicationLikely pathogenicGRCh37Chr 17, 41234291: 41234560
206BRCA1NM_007294.3(BRCA1): c.4358_4484del127 (p.Ala1453Glyfs)deletionLikely pathogenicGRCh38Chr 17, 43076488: 43076614
207BRCA1NM_007294.3(BRCA1): c.4386dupA (p.Tyr1463Ilefs)duplicationPathogenicrs786204267GRCh37Chr 17, 41228603: 41228603
208BRCA1NM_007294.3(BRCA1): c.5543_5545delAGGins43 (p.?)indelLikely pathogenicrs786204270GRCh37Chr 17, 41197742: 41197744
209BRCA1NM_007294.3(BRCA1)insertionPathogenicrs797044631GRCh37Chr 17, 41243800: 41243801
210BRCA1NM_007294.3(BRCA1): c.2043dupT (p.Asn682Terfs)duplicationPathogenicrs863224510GRCh37Chr 17, 41245505: 41245505
211BRCA1NM_007294.3(BRCA1): c.4647_4648dupAA (p.Thr1550Lysfs)duplicationPathogenicrs869025213GRCh37Chr 17, 41226375: 41226376
212BRCA2NM_000059.3(BRCA2): c.3689_3690delCT (p.Ser1230Tyrfs)deletionPathogenicrs869312759GRCh37Chr 13, 32912181: 32912182
213BRCA2NM_000059.3(BRCA2): c.8419_8428delTCGCTTTTCA (p.Ser2807Valfs)deletionPathogenicrs869312760GRCh38Chr 13, 32370489: 32370498
214BRCA1NM_007294.3(BRCA1): c.1600delC (p.Gln534Argfs)deletionPathogenicrs869320776GRCh38Chr 17, 43093931: 43093931
215BRCA1NM_007294.3(BRCA1): c.886delA (p.Arg296Glufs)deletionPathogenicrs869320786GRCh37Chr 17, 41246662: 41246662
216BRCA1NM_007294.3(BRCA1): c.442C> T (p.Gln148Ter)single nucleotide variantLikely pathogenic, Pathogenicrs876659614GRCh37Chr 17, 41251897: 41251897
217BRCA1NM_007294.3(BRCA1): c.441+2T> Gsingle nucleotide variantPathogenicrs397509173GRCh37Chr 17, 41256137: 41256137
218BRCA1NM_007294.3(BRCA1): c.5278-2deldeletionPathogenicrs878853285GRCh37Chr 17, 41203136: 41203136
219BRCA1NM_007294.3(BRCA1): c.5331_5332+1delinsCAACATindelPathogenicrs878853286GRCh38Chr 17, 43051062: 43051064
220BRCA1NM_007294.3(BRCA1): c.1150G> T (p.Glu384Ter)single nucleotide variantPathogenicrs878853288GRCh37Chr 17, 41246398: 41246398
221BRCA1NM_007294.3(BRCA1): c.1881_1882insCC (p.Ser628Profs)insertionPathogenicrs878853289GRCh37Chr 17, 41245666: 41245667
222BRCA1NM_007294.3(BRCA1): c.2562_2563insGC (p.Gln855Alafs)insertionPathogenicrs878853290GRCh37Chr 17, 41244985: 41244986
223BRCA1NM_007294.3(BRCA1): c.2805dupA (p.Asp936Argfs)duplicationPathogenicrs878853291GRCh38Chr 17, 43092726: 43092726
224BRCA1NM_007294.3(BRCA1): c.2933dupA (p.Tyr978Terfs)duplicationPathogenicrs878853292GRCh38Chr 17, 43092598: 43092598
225BRCA1NM_007294.3(BRCA1): c.4570delT (p.Ser1524Leufs)deletionPathogenicrs878853293GRCh37Chr 17, 41226453: 41226453
226BRCA1NM_007294.3(BRCA1): c.4576G> T (p.Glu1526Ter)single nucleotide variantPathogenicrs878853294GRCh37Chr 17, 41226447: 41226447
227BRCA1NM_007294.3(BRCA1): c.5181_5182delAA (p.Lys1727Asnfs)deletionPathogenicrs878853295GRCh37Chr 17, 41215361: 41215362
228BRCA1NM_007294.3(BRCA1): c.5496_5499delGGTG (p.Val1833Profs)deletionPathogenicrs878853296GRCh38Chr 17, 43045771: 43045774
229BRCA1NM_007294.3(BRCA1): c.64_65dupTT (p.Leu22Phefs)duplicationPathogenicrs80357642GRCh37Chr 17, 41276049: 41276050
230BRCA1NM_007294.3(BRCA1): c.3675C> A (p.Cys1225Ter)single nucleotide variantLikely pathogenic, Pathogenicrs879254023GRCh38Chr 17, 43091856: 43091856
231BRCA1NM_007294.3(BRCA1): c.2418delA (p.Ala807Hisfs)deletionPathogenicrs879255281GRCh38Chr 17, 43093113: 43093113
232BRCA1NM_007294.3(BRCA1): c.4389_4392dupCCCT (p.Ile1465Profs)duplicationPathogenicrs879255282GRCh37Chr 17, 41228597: 41228600
233BRCA1NM_007294.3(BRCA1): c.5075-2A> Gsingle nucleotide variantPathogenicrs80358066GRCh37Chr 17, 41215970: 41215970
234BRCA1NM_007294.3(BRCA1): c.2331_2332dupTG (p.Gly778Valfs)duplicationPathogenicrs431825390GRCh38Chr 17, 43093199: 43093200
235BRCA1NM_007294.3(BRCA1): c.5050_5051delAC (p.Thr1684Tyrfs)deletionLikely pathogenicrs879255283GRCh37Chr 17, 41219648: 41219649
236BRCA1NM_007294.3(BRCA1): c.4675+2T> Gsingle nucleotide variantLikely pathogenicrs879255293GRCh38Chr 17, 43074329: 43074329
237BRCA1NM_007294.3(BRCA1): c.715delC (p.His239Ilefs)deletionLikely pathogenicrs879255294GRCh37Chr 17, 41246833: 41246833
238BRCA1NM_007294.3(BRCA1): c.4976delC (p.Pro1659Glnfs)deletionLikely pathogenicrs879255295GRCh37Chr 17, 41222955: 41222955
239BRCA1NM_007294.3(BRCA1): c.346delG (p.Glu116Asnfs)deletionLikely pathogenicrs762635795GRCh38Chr 17, 43104217: 43104217
240BRCA1NM_007294.3(BRCA1): c.1407_1408delAA (p.Ser470Profs)deletionPathogenicrs879255476GRCh37Chr 17, 41246140: 41246141
241BRCA1NM_007294.3(BRCA1): c.1575dupT (p.Gln526Serfs)duplicationPathogenicrs879255478GRCh37Chr 17, 41245973: 41245973
242BRCA1NM_007294.3(BRCA1): c.1759_1762delATAA (p.Ile587Alafs)deletionPathogenicrs879255479GRCh37Chr 17, 41245786: 41245789
243BRCA1NM_007294.3(BRCA1): c.1949_1950insCA (p.Lys652Argfs)insertionPathogenicrs879255480GRCh37Chr 17, 41245598: 41245599
244BRCA1NM_007294.3(BRCA1): c.2719delG (p.Glu907Lysfs)deletionPathogenicrs879255481GRCh37Chr 17, 41244829: 41244829
245BRCA1NM_007294.3(BRCA1): c.3257delT (p.Leu1086Terfs)deletionPathogenicrs879255483GRCh37Chr 17, 41244291: 41244291
246BRCA1NM_007294.3(BRCA1): c.403A> T (p.Lys135Ter)single nucleotide variantPathogenicrs879255485GRCh37Chr 17, 41256177: 41256177
247BRCA1NG_005905.2: g.141479_141480ins5insertionPathogenicrs879255489GRCh38Chr 17, 43076504: 43076505
248BRCA1NM_007294.3(BRCA1): c.4888_4889delGA (p.Glu1630Lysfs)deletionPathogenicrs879255490GRCh37Chr 17, 41223042: 41223043
249BRCA1NM_007294.3(BRCA1): c.628C> T (p.Gln210Ter)single nucleotide variantPathogenicrs879255495GRCh38Chr 17, 43095888: 43095888
250BRCA1NM_007294.3(BRCA1): c.77T> A (p.Ile26Asn)single nucleotide variantPathogenicrs879255496GRCh37Chr 17, 41276037: 41276037
251BRCA1NP_009225.1: p.Ser864Terprotein onlyPathogenic
252BRCA1NP_009225.1: p.Ser955Terprotein onlyPathogenic
253BRCA1NM_007294.3(BRCA1): c.1016delA (p.Lys339Argfs)deletionPathogenicrs80357618GRCh37Chr 17, 41246532: 41246532
254BRCA1NM_007294.3(BRCA1): c.1018delG (p.Val340Terfs)deletionPathogenicrs80357774GRCh37Chr 17, 41246530: 41246530
255BRCA1NM_007294.3(BRCA1): c.1121delC (p.Thr374Asnfs)deletionPathogenicrs80357612GRCh37Chr 17, 41246427: 41246427
256BRCA1NM_007294.3(BRCA1): c.116G> T (p.Cys39Phe)single nucleotide variantPathogenicrs80357498GRCh37Chr 17, 41267761: 41267761
257BRCA1NM_007294.3(BRCA1): c.1175_1215del41 (p.Leu392Glnfs)deletionPathogenicrs397507180GRCh37Chr 17, 41246333: 41246373
258BRCA1NM_007294.3(BRCA1): c.1175_1216del42 (p.Leu392_Asn406delinsHis)deletionPathogenicrs397507181GRCh37Chr 17, 41246332: 41246373
259BRCA1NM_007294.3(BRCA1): c.1175_1217del43 (p.Leu393Profs)deletionPathogenicrs397507182GRCh37Chr 17, 41246331: 41246373
260BRCA1NM_007294.3(BRCA1): c.1175_1218del44 (p.Leu392Argfs)deletionPathogenicrs397507183GRCh37Chr 17, 41246330: 41246373
261BRCA1NM_007294.3(BRCA1): c.134+5G> Csingle nucleotide variantLikely pathogenicrs80358038GRCh37Chr 17, 41267738: 41267738
262BRCA1NM_007294.3(BRCA1): c.1340_1341insG (p.His448Serfs)insertionPathogenicrs80357597GRCh37Chr 17, 41246207: 41246208
263BRCA1NM_007294.3(BRCA1): c.135-1G> Tsingle nucleotide variantPathogenicrs80358158GRCh37Chr 17, 41258551: 41258551
264BRCA1NM_007294.3(BRCA1): c.1360_1361delAG (p.Ser454Terfs)deletionPathogenicrs80357969GRCh37Chr 17, 41246187: 41246188
265BRCA1NM_007294.3(BRCA1): c.1387_1390delAAAAins5indelPathogenicrs397508866GRCh37Chr 17, 41246158: 41246161
266BRCA1NM_007294.3(BRCA1): c.1389_1390delAAinsG (p.Thr464Profs)indelPathogenicrs273897659GRCh37Chr 17, 41246158: 41246159
267BRCA1NM_007294.3(BRCA1): c.143delT (p.Met48Serfs)deletionPathogenicrs80357637GRCh37Chr 17, 41258542: 41258542
268BRCA1NM_007294.3(BRCA1): c.1444_1447delATTA (p.Ile482Terfs)deletionPathogenicrs80357801GRCh37Chr 17, 41246101: 41246104
269BRCA1NM_007294.3(BRCA1): c.1480C> T (p.Gln494Ter)single nucleotide variantPathogenicrs80357010GRCh37Chr 17, 41246068: 41246068
270BRCA1NM_007294.3(BRCA1): c.1504_1508delTTAAA (p.Leu502Alafs)deletionPathogenicrs80357888GRCh37Chr 17, 41246040: 41246044
271BRCA1NM_007294.3(BRCA1): c.1510delC (p.Arg504Valfs)deletionPathogenicrs80357908GRCh37Chr 17, 41246038: 41246038
272BRCA1NM_007294.3(BRCA1): c.1674delA (p.Gly559Valfs)deletionPathogenicrs80357600GRCh37Chr 17, 41245874: 41245874
273BRCA1NM_007294.3(BRCA1): c.1687C> T (p.Gln563Ter)single nucleotide variantPathogenicrs80356898GRCh37Chr 17, 41245861: 41245861
274BRCA1NM_007294.3(BRCA1): c.1728dupA (p.Glu577Argfs)duplicationPathogenicrs397507192GRCh37Chr 17, 41245820: 41245820
275BRCA1NM_007294.3(BRCA1): c.1854delG (p.Arg618Serfs)deletionPathogenicrs397507193GRCh37Chr 17, 41245694: 41245694
276BRCA1NM_007294.3(BRCA1): c.1877_1878ins4insertionPathogenicrs80357516GRCh37Chr 17, 41245670: 41245671
277BRCA1NM_007294.3(BRCA1): c.1921dupA (p.Ile641Asnfs)duplicationPathogenicrs397507194GRCh37Chr 17, 41245627: 41245627
278BRCA1NM_007294.3(BRCA1): c.1953_1956delGAAA (p.Lys653Serfs)deletionPathogenicrs80357526GRCh37Chr 17, 41245592: 41245595
279BRCA1NM_007294.3(BRCA1): c.1960A> T (p.Lys654Ter)single nucleotide variantPathogenicrs80357355GRCh37Chr 17, 41245588: 41245588
280BRCA1NM_007294.3(BRCA1): c.1961delA (p.Lys654Serfs)deletionPathogenicrs80357522GRCh37Chr 17, 41245587: 41245587
281BRCA1NM_007294.3(BRCA1): c.1972delA (p.Met658Cysfs)deletionPathogenicrs397507195GRCh37Chr 17, 41245576: 41245576
282BRCA1NM_007294.3(BRCA1): c.2071delA (p.Arg691Aspfs)deletionPathogenicrs80357688GRCh37Chr 17, 41245477: 41245477
283BRCA1NM_007294.3(BRCA1): c.2105dupT (p.Leu702Phefs)duplicationPathogenicrs80357880GRCh37Chr 17, 41245443: 41245443
284BRCA1NM_007294.3(BRCA1): c.212+1G> Asingle nucleotide variantPathogenicrs80358042GRCh37Chr 17, 41258472: 41258472
285BRCA1NM_007294.3(BRCA1): c.2125_2126ins3insertionPathogenicrs80357871GRCh37Chr 17, 41245422: 41245423
286BRCA1NM_007294.3(BRCA1): c.213-11T> Gsingle nucleotide variantPathogenicrs80358061GRCh37Chr 17, 41256984: 41256984
287BRCA1NM_007294.3(BRCA1): c.213-12A> Gsingle nucleotide variantPathogenicrs80358163GRCh37Chr 17, 41256985: 41256985
288BRCA1NM_007294.3(BRCA1): c.2138C> G (p.Ser713Ter)single nucleotide variantPathogenicrs80357233GRCh37Chr 17, 41245410: 41245410
289BRCA1NM_007294.3(BRCA1): c.2158G> T (p.Glu720Ter)single nucleotide variantPathogenicrs80356875GRCh37Chr 17, 41245390: 41245390
290BRCA1NM_007294.3(BRCA1): c.2210_2211delCA (p.Thr737Serfs)deletionPathogenicrs80357654GRCh37Chr 17, 41245337: 41245338
291BRCA1NM_007294.3(BRCA1): c.2214_2215insTT (p.Lys739Leufs)insertionPathogenicrs397507197GRCh37Chr 17, 41245333: 41245334
292BRCA1NM_007294.3(BRCA1): c.2269delG (p.Val757Phefs)deletionPathogenicrs80357583GRCh37Chr 17, 41245279: 41245279
293BRCA1NM_007294.3(BRCA1): c.2299delA (p.Ser767Alafs)deletionPathogenicrs80357786GRCh37Chr 17, 41245249: 41245249
294BRCA1NM_007294.3(BRCA1): c.2411_2412delAG (p.Gln804Leufs)deletionPathogenicrs80357664GRCh37Chr 17, 41245136: 41245137
295BRCA1NM_007294.3(BRCA1): c.2424delT (p.Phe808Leufs)deletionPathogenicrs397507200GRCh37Chr 17, 41245124: 41245124
296BRCA1NM_007294.3(BRCA1): c.2433delC (p.Lys812Argfs)deletionPathogenicrs80357524GRCh37Chr 17, 41245115: 41245115
297BRCA1NM_007294.3(BRCA1): c.2457delC (p.Asp821Ilefs)deletionPathogenicrs80357669GRCh37Chr 17, 41245091: 41245091
298BRCA1NM_007294.3(BRCA1): c.2475delC (p.Asp825Glufs)deletionPathogenicrs80357970GRCh37Chr 17, 41245073: 41245073
299BRCA1NM_007294.3(BRCA1): c.2515delC (p.His839Thrfs)deletionPathogenicrs80357607GRCh37Chr 17, 41245033: 41245033
300BRCA1NM_007294.3(BRCA1): c.2563C> T (p.Gln855Ter)single nucleotide variantPathogenicrs80357131GRCh37Chr 17, 41244985: 41244985
301BRCA1NM_007294.3(BRCA1): c.2603C> G (p.Ser868Ter)single nucleotide variantPathogenicrs80356925GRCh37Chr 17, 41244945: 41244945
302BRCA1NM_007294.3(BRCA1): c.2635G> T (p.Glu879Ter)single nucleotide variantLikely pathogenic, Pathogenicrs80357251GRCh37Chr 17, 41244913: 41244913
303BRCA1NM_007294.3(BRCA1): c.2677A> T (p.Lys893Ter)single nucleotide variantPathogenicrs80357170GRCh37Chr 17, 41244871: 41244871
304BRCA1NM_007294.3(BRCA1): c.2679_2682delGAAA (p.Lys893Asnfs)deletionPathogenicrs80357596GRCh37Chr 17, 41244866: 41244869
305BRCA1NM_007294.3(BRCA1): c.2707_2708insAT (p.Cys903Tyrfs)insertionPathogenicrs80357717GRCh37Chr 17, 41244840: 41244841
306BRCA1NM_007294.3(BRCA1): c.2710G> T (p.Glu904Ter)single nucleotide variantPathogenicrs80357035GRCh37Chr 17, 41244838: 41244838
307BRCA1NM_007294.3(BRCA1): c.2806_2809delGATA (p.Asp936Serfs)deletionPathogenicrs80357832GRCh37Chr 17, 41244739: 41244742
308BRCA1NM_007294.3(BRCA1): c.2864_2865insT (p.Ser956Ilefs)insertionPathogenicrs397507205GRCh37Chr 17, 41244683: 41244684
309BRCA1NM_007294.3(BRCA1): c.2934T> G (p.Tyr978Ter)single nucleotide variantPathogenicrs80357115GRCh37Chr 17, 41244614: 41244614
310BRCA1NM_007294.3(BRCA1): c.2981_2982delGT (p.Cys994Terfs)deletionPathogenicrs397507207GRCh37Chr 17, 41244566: 41244567
311BRCA1NM_007294.3(BRCA1): c.302-2A> Csingle nucleotide variantPathogenicrs80358011GRCh37Chr 17, 41256280: 41256280
312BRCA1NM_007294.3(BRCA1): c.302-3C> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs80358051GRCh37Chr 17, 41256281: 41256281
313BRCA1NM_007294.3(BRCA1): c.3037_3038delGA (p.Glu1013Asnfs)deletionPathogenicrs397507208GRCh37Chr 17, 41244510: 41244511
314BRCA1NM_007294.3(BRCA1): c.3052_3053ins5insertionPathogenicrs80357856GRCh37Chr 17, 41244495: 41244496
315BRCA1NM_007294.3(BRCA1): c.3112G> T (p.Glu1038Ter)single nucleotide variantPathogenicrs80357161GRCh37Chr 17, 41244436: 41244436
316BRCA1NM_007294.3(BRCA1): c.3164_3165ins4insertionPathogenicrs587777910GRCh37Chr 17, 41244383: 41244384
317BRCA1NM_007294.3(BRCA1): c.3174delT (p.Asn1059Metfs)deletionPathogenicrs397507210GRCh37Chr 17, 41244374: 41244374
318BRCA1NM_007294.3(BRCA1): c.3228_3229delAG (p.Gly1077Alafs)deletionPathogenicrs80357635GRCh37Chr 17, 41244319: 41244320
319BRCA1NM_007294.3(BRCA1): c.329delA (p.Lys110Argfs)deletionPathogenicrs397507214GRCh37Chr 17, 41256251: 41256251
320BRCA1NM_007294.3(BRCA1): c.3331_3334delCAAG (p.Gln1111Asnfs)deletionPathogenicrs80357701GRCh37Chr 17, 41244214: 41244217
321BRCA1NM_007294.3(BRCA1): c.3352C> T (p.Gln1118Ter)single nucleotide variantPathogenicrs397507215GRCh37Chr 17, 41244196: 41244196
322BRCA1NM_007294.3(BRCA1): c.3358_3359delGT (p.Val1120Terfs)deletionPathogenicrs80357945GRCh37Chr 17, 41244189: 41244190
323BRCA1NM_007294.3(BRCA1): c.3389C> G (p.Ser1130Ter)single nucleotide variantPathogenicrs80357405GRCh37Chr 17, 41244159: 41244159
324BRCA1NM_007294.3(BRCA1): c.3400G> T (p.Glu1134Ter)single nucleotide variantPathogenicrs80357018GRCh37Chr 17, 41244148: 41244148
325BRCA1NM_007294.3(BRCA1): c.3442delG (p.Glu1148Argfs)deletionPathogenicrs80357808GRCh37Chr 17, 41244106: 41244106
326BRCA1NM_007294.3(BRCA1): c.3485delA (p.Asp1162Valfs)deletionPathogenicrs80357509GRCh37Chr 17, 41244063: 41244063
327BRCA1NM_007294.3(BRCA1): c.3503delA (p.Asn1168Metfs)deletionPathogenicrs397507216GRCh37Chr 17, 41244045: 41244045
328BRCA1NM_007294.3(BRCA1): c.3612delA (p.Ala1206Profs)deletionPathogenicrs80357980GRCh37Chr 17, 41243936: 41243936
329BRCA1NM_007294.3(BRCA1): c.3627dupA (p.Glu1210Argfs)duplicationPathogenicrs80357729GRCh37Chr 17, 41243921: 41243921
330BRCA1NM_007294.3(BRCA1): c.3648dupA (p.Ser1217Ilefs)duplicationPathogenicrs80357902GRCh37Chr 17, 41243900: 41243900
331BRCA1NM_007294.3(BRCA1): c.3671_3672ins4insertionPathogenicrs80357797GRCh37Chr 17, 41243876: 41243877
332BRCA1NM_007294.3(BRCA1): c.3683delA (p.His1228Profs)deletionPathogenicrs397507217GRCh37Chr 17, 41243865: 41243865
333BRCA1NM_007294.3(BRCA1): c.3689T> G (p.Leu1230Ter)single nucleotide variantPathogenicrs80357162GRCh37Chr 17, 41243859: 41243859
334BRCA1NM_007294.3(BRCA1): c.3700_3704delGTAAA (p.Val1234Glnfs)deletionPathogenicrs80357609GRCh37Chr 17, 41243844: 41243848
335BRCA1NM_007294.3(BRCA1): c.3759_3760delTA (p.Lys1254Glufs)deletionPathogenicrs80357520GRCh37Chr 17, 41243788: 41243789
336BRCA1NM_007294.3(BRCA1): c.3764dupA (p.Asn1255Lysfs)duplicationPathogenicrs80357848GRCh37Chr 17, 41243784: 41243784
337BRCA1NM_007294.3(BRCA1): c.3770_3771delAG (p.Glu1257Glyfs)deletionPathogenicrs80357579GRCh37Chr 17, 41243777: 41243778
338BRCA1NM_007294.3(BRCA1): c.3771_3772delGGinsC (p.Glu1257Aspfs)indelPathogenicrs397507218GRCh37Chr 17, 41243776: 41243777
339BRCA1NM_007294.3(BRCA1): c.3825dupA (p.Leu1276Ilefs)duplicationPathogenicrs397507220GRCh37Chr 17, 41243723: 41243723
340BRCA1NM_007294.3(BRCA1): c.3852_3853insAC (p.Leu1285Thrfs)insertionPathogenicrs397507221GRCh37Chr 17, 41243695: 41243696
341BRCA1NM_007294.3(BRCA1): c.3852delC (p.Ser1286Valfs)deletionPathogenicrs397507222GRCh37Chr 17, 41243696: 41243696
342BRCA1NM_007294.3(BRCA1): c.3858_3861delTGAG (p.Ser1286Argfs)deletionPathogenicrs80357842GRCh37Chr 17, 41243687: 41243690
343BRCA1NM_007294.3(BRCA1): c.3868A> T (p.Lys1290Ter)single nucleotide variantPathogenicrs80357254GRCh37Chr 17, 41243680: 41243680
344BRCA1NM_007294.3(BRCA1): c.3937C> T (p.Gln1313Ter)single nucleotide variantPathogenicrs80357318GRCh37Chr 17, 41243611: 41243611
345BRCA1NM_007294.3(BRCA1): c.3991C> T (p.Gln1331Ter)single nucleotide variantPathogenicrs397507224GRCh37Chr 17, 41243557: 41243557
346BRCA1NM_007294.3(BRCA1): c.4015G> T (p.Glu1339Ter)single nucleotide variantPathogenicrs80357021GRCh37Chr 17, 41243533: 41243533
347BRCA1NM_007294.3(BRCA1): c.4035delA (p.Glu1346Lysfs)deletionPathogenicrs80357711GRCh37Chr 17, 41243513: 41243513
348BRCA1NM_007294.3(BRCA1): c.4096+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs80358178GRCh37Chr 17, 41243451: 41243451
349BRCA1NM_007294.3(BRCA1): c.4096+3A> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs80358015GRCh37Chr 17, 41243449: 41243449
350BRCA1NM_007294.3(BRCA1): c.4097-1G> Asingle nucleotide variantPathogenicrs80358070GRCh37Chr 17, 41243050: 41243050
351BRCA1NM_007294.3(BRCA1): c.4116_4117delTG (p.Cys1372Terfs)deletionPathogenicrs80357804GRCh37Chr 17, 41243029: 41243030
352BRCA1NM_007294.3(BRCA1): c.4117G> T (p.Glu1373Ter)single nucleotide variantPathogenicrs80357259GRCh37Chr 17, 41243029: 41243029
353BRCA1NM_007294.3(BRCA1): c.4120_4121delAG (p.Ser1374Terfs)deletionPathogenicrs80357787GRCh37Chr 17, 41243025: 41243026
354BRCA1NM_007294.3(BRCA1): c.4148C> G (p.Ser1383Ter)single nucleotide variantPathogenicrs80357071GRCh37Chr 17, 41242998: 41242998
355BRCA1NM_007294.3(BRCA1): c.4185+2_4185+22del21insAindelPathogenicrs273900724GRCh37Chr 17, 41242939: 41242959
356BRCA1NM_007294.3(BRCA1): c.4243delG (p.Glu1415Lysfs)deletionPathogenicrs80357981GRCh37Chr 17, 41234535: 41234535
357BRCA1NM_007294.3(BRCA1): c.4251_4252delGT (p.Leu1418Argfs)deletionPathogenicrs80357977GRCh37Chr 17, 41234526: 41234527
358BRCA1NM_007294.3(BRCA1): c.427G> T (p.Glu143Ter)single nucleotide variantPathogenicrs80356991GRCh37Chr 17, 41256153: 41256153
359BRCA1NM_007294.3(BRCA1): c.4357+1G> Asingle nucleotide variantPathogenicrs80358027GRCh37Chr 17, 41234420: 41234420
360BRCA1NM_007294.3(BRCA1): c.4387delT (p.Tyr1463Thrfs)deletionPathogenicrs397507229GRCh37Chr 17, 41228602: 41228602
361BRCA1NM_007294.3(BRCA1): c.4388_4389ins7insertionPathogenicrs587777911GRCh37Chr 17, 41228600: 41228601
362BRCA1NM_007294.3(BRCA1): c.4391_4393delCTAinsTT (p.Pro1464Leufs)indelLikely pathogenic, Pathogenicrs273900730GRCh37Chr 17, 41228596: 41228598
363BRCA1NM_007294.3(BRCA1): c.4391delC (p.Pro1464Leufs)deletionPathogenicrs80357916GRCh37Chr 17, 41228598: 41228598
364BRCA1NM_007294.3(BRCA1): c.4393delA (p.Ile1465Terfs)deletionPathogenicrs397507230GRCh37Chr 17, 41228596: 41228596
365BRCA1NM_007294.3(BRCA1): c.4427dupA (p.Phe1477Valfs)duplicationPathogenicrs397507231GRCh37Chr 17, 41228562: 41228562
366BRCA1NM_007294.3(BRCA1): c.4482_4483delAA (p.Arg1495Valfs)deletionPathogenicrs80357854GRCh37Chr 17, 41228506: 41228507
367BRCA1NM_007294.3(BRCA1): c.4484+1G> Asingle nucleotide variantPathogenicrs80358063GRCh37Chr 17, 41228504: 41228504
368BRCA1NM_007294.3(BRCA1): c.4484G> T (p.Arg1495Met)single nucleotide variantPathogenicrs80357389GRCh37Chr 17, 41228505: 41228505
369BRCA1NM_007294.3(BRCA1): c.466dupC (p.Leu156Profs)duplicationPathogenicrs397507236GRCh37Chr 17, 41251873: 41251873
370BRCA1NM_007294.3(BRCA1): c.4675G> A (p.Glu1559Lys)single nucleotide variantPathogenicrs80356988GRCh37Chr 17, 41226348: 41226348
371BRCA1NM_007294.3(BRCA1): c.4675G> C (p.Glu1559Gln)single nucleotide variantLikely pathogenic, Pathogenicrs80356988GRCh37Chr 17, 41226348: 41226348
372BRCA1NM_007294.3(BRCA1): c.4689C> G (p.Tyr1563Ter)single nucleotide variantPathogenicrs80357433GRCh37Chr 17, 41223242: 41223242
373BRCA1NM_007294.3(BRCA1): c.470_471delCT (p.Ser157Terfs)deletionPathogenicrs80357887GRCh37Chr 17, 41251868: 41251869
374BRCA1NM_007294.3(BRCA1): c.4749_4750delAG (p.Arg1583Serfs)deletionPathogenicrs80357641GRCh37Chr 17, 41223181: 41223182
375BRCA1NM_007294.3(BRCA1): c.4775_4779delACATAinsC (p.Asn1592Thrfs)indelPathogenicrs397507237GRCh37Chr 17, 41223152: 41223156
376BRCA1NM_007294.3(BRCA1): c.4868C> G (p.Ala1623Gly)single nucleotide variantLikely pathogenic, Pathogenicrs80356862GRCh37Chr 17, 41223063: 41223063
377BRCA1NM_007294.3(BRCA1): c.4964_4982del19 (p.Ser1655Tyrfs)deletionLikely pathogenic, Pathogenicrs80359876GRCh37Chr 17, 41222949: 41222967
378BRCA1NM_007294.3(BRCA1): c.4986+1G> Tsingle nucleotide variantPathogenicrs80358162GRCh37Chr 17, 41222944: 41222944
379BRCA1NM_007294.3(BRCA1): c.4986+4A> Csingle nucleotide variantPathogenicrs80358087GRCh37Chr 17, 41222941: 41222941
380BRCA1NM_007294.3(BRCA1): c.4986+6T> Csingle nucleotide variantLikely pathogenic, Pathogenicrs80358086GRCh37Chr 17, 41222939: 41222939
381BRCA1NM_007294.3(BRCA1): c.5030_5033delCTAA (p.Thr1677Ilefs)deletionPathogenicrs80357580GRCh37Chr 17, 41219666: 41219669
382BRCA1NM_007294.3(BRCA1): c.5035_5039delCTAAT (p.Leu1679Tyrfs)deletionPathogenicrs80357623GRCh37Chr 17, 41219660: 41219664
383BRCA1NM_007294.3(BRCA1): c.5068A> T (p.Lys1690Ter)single nucleotide variantPathogenicrs397507239GRCh37Chr 17, 41219631: 41219631
384BRCA1NM_007294.3(BRCA1): c.5074+1G> Asingle nucleotide variantPathogenicrs80358053GRCh37Chr 17, 41219624: 41219624
385BRCA1NM_007294.3(BRCA1): c.5074+1G> Tsingle nucleotide variantLikely pathogenic, Pathogenicrs80358053GRCh37Chr 17, 41219624: 41219624
386BRCA1NM_007294.3(BRCA1): c.5074+2T> Csingle nucleotide variantPathogenicrs80358089GRCh37Chr 17, 41219623: 41219623
387BRCA1NM_007294.3(BRCA1): c.5074G> A (p.Asp1692Asn)single nucleotide variantLikely pathogenic, Pathogenicrs80187739GRCh37Chr 17, 41219625: 41219625
388BRCA1NM_007294.3(BRCA1): c.5074G> C (p.Asp1692His)single nucleotide variantPathogenicrs80187739GRCh37Chr 17, 41219625: 41219625
389BRCA1NM_007294.3(BRCA1): c.5096G> A (p.Arg1699Gln)single nucleotide variantLikely pathogenic, Pathogenicrs41293459GRCh37Chr 17, 41215947: 41215947
390BRCA1NM_007294.3(BRCA1): c.5117G> A (p.Gly1706Glu)single nucleotide variantPathogenicrs80356860GRCh37Chr 17, 41215926: 41215926
391BRCA1NM_007294.3(BRCA1): c.5152+1G> Csingle nucleotide variantPathogenicrs80358094GRCh37Chr 17, 41215890: 41215890
392BRCA1NM_007294.3(BRCA1): c.5153-1G> Csingle nucleotide variantPathogenicrs80358137GRCh37Chr 17, 41215391: 41215391
393BRCA1NM_007294.3(BRCA1): c.5177_5180delGAAA (p.Arg1726Lysfs)deletionPathogenicrs80357867GRCh37Chr 17, 41215363: 41215366
394BRCA1NM_007294.3(BRCA1): c.5179A> T (p.Lys1727Ter)single nucleotide variantPathogenicrs80357347GRCh37Chr 17, 41215364: 41215364
395BRCA1NM_007294.3(BRCA1): c.5194-2A> Gsingle nucleotide variantPathogenicrs80358069GRCh37Chr 17, 41209154: 41209154
396BRCA1NM_007294.3(BRCA1): c.5207T> C (p.Val1736Ala)single nucleotide variantLikely pathogenic, Pathogenicrs45553935GRCh37Chr 17, 41209139: 41209139
397BRCA1NM_007294.3(BRCA1): c.5232_5238delAAACCACins12 (p.?)indelPathogenicrs483353071GRCh37Chr 17, 41209108: 41209114
398BRCA1NM_007294.3(BRCA1): c.5259delA (p.Glu1754Asnfs)deletionPathogenicrs80357925GRCh37Chr 17, 41209087: 41209087
399BRCA1NM_007294.3(BRCA1): c.5277+1G> Asingle nucleotide variantPathogenicrs80358150GRCh37Chr 17, 41209068: 41209068
400BRCA1NM_007294.3(BRCA1): c.5289dupG (p.Leu1764Alafs)duplicationPathogenicrs80357886GRCh37Chr 17, 41203123: 41203123
401BRCA1NM_007294.3(BRCA1): c.5297T> G (p.Ile1766Ser)single nucleotide variantPathogenicrs80357463GRCh37Chr 17, 41203115: 41203115
402BRCA1NM_007294.3(BRCA1): c.5335delC (p.Gln1779Asnfs)deletionPathogenicrs80357590GRCh37Chr 17, 41201209: 41201209
403BRCA1NM_007294.3(BRCA1): c.5346G> A (p.Trp1782Ter)single nucleotide variantPathogenicrs80357284GRCh37Chr 17, 41201198: 41201198
404BRCA1NM_007294.3(BRCA1): c.5363G> T (p.Gly1788Val)single nucleotide variantPathogenicrs80357069GRCh37Chr 17, 41201181: 41201181
405BRCA1NM_007294.3(BRCA1): c.5386delT (p.Ser1796Hisfs)deletionPathogenicrs397507249GRCh37Chr 17, 41201158: 41201158
406BRCA1NM_007294.3(BRCA1): c.5387C> A (p.Ser1796Ter)single nucleotide variantPathogenicrs80357055GRCh37Chr 17, 41201157: 41201157
407BRCA1NM_007294.3(BRCA1): c.5406+1G> Asingle nucleotide variantPathogenicrs80358028GRCh37Chr 17, 41201137: 41201137
408BRCA1NM_007294.3(BRCA1): c.5406+5G> Tsingle nucleotide variantLikely pathogenic, Pathogenicrs80358073GRCh37Chr 17, 41201133: 41201133
409BRCA1NM_007294.3(BRCA1): c.5417delC (p.Pro1806Glnfs)deletionPathogenicrs80357558GRCh37Chr 17, 41199710: 41199710
410BRCA1NM_007294.3(BRCA1): c.5453A> G (p.Asp1818Gly)single nucleotide variantLikely pathogenic, Pathogenicrs80357477GRCh37Chr 17, 41199674: 41199674
411BRCA1NM_007294.3(BRCA1): c.5467+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs80358145GRCh37Chr 17, 41199659: 41199659
412BRCA1NM_007294.3(BRCA1): c.547+2T> Asingle nucleotide variantPathogenicrs80358047GRCh37Chr 17, 41251790: 41251790
413BRCA1NM_007294.3(BRCA1): c.66dupA (p.Glu23Argfs)duplicationPathogenicrs80357783GRCh37Chr 17, 41276048: 41276048
414BRCA1NM_007294.3(BRCA1): c.676delT (p.Cys226Valfs)deletionPathogenicrs80357941GRCh37Chr 17, 41246872: 41246872
415BRCA1NM_007294.3(BRCA1): c.697_698delGT (p.Val233Asnfs)deletionPathogenicrs80357747GRCh37Chr 17, 41246850: 41246851
416BRCA1NM_007294.3(BRCA1): c.783T> G (p.Tyr261Ter)single nucleotide variantPathogenicrs80357321GRCh37Chr 17, 41246765: 41246765
417BRCA1NM_007294.3(BRCA1): c.798_799delTT (p.Ser267Lysfs)deletionPathogenicrs80357724GRCh37Chr 17, 41246749: 41246750
418BRCA1NM_007294.3(BRCA1): c.824_825ins10 (p.?)insertionPathogenicrs387906563GRCh37Chr 17, 41246723: 41246724
419BRCA1NM_007294.3(BRCA1): c.85G> T (p.Glu29Ter)single nucleotide variantPathogenicrs80357443GRCh37Chr 17, 41267792: 41267792
420BRCA1NM_007294.3(BRCA1): c.929delA (p.Gln310Argfs)deletionPathogenicrs80357844GRCh37Chr 17, 41246619: 41246619
421BRCA1NM_007294.3(BRCA1): c.952_1015del64 (p.His318Argfs)deletionPathogenicrs80359872GRCh37Chr 17, 41246533: 41246596
422BRCA1NM_007294.3(BRCA1): c.962G> A (p.Trp321Ter)single nucleotide variantPathogenicrs80357292GRCh37Chr 17, 41246586: 41246586
423BRCA2NM_000059.3(BRCA2): c.5035delA (p.Thr1679Leufs)deletionPathogenicrs80359477GRCh37Chr 13, 32913527: 32913527
424BRCA2NM_000059.3(BRCA2): c.8297delC (p.Thr2766Asnfs)deletionPathogenicrs80359705GRCh37Chr 13, 32937636: 32937636
425BRCA2NM_000059.3(BRCA2): c.9097dupA (p.Thr3033Asnfs)duplicationPathogenicrs397507419GRCh37Chr 13, 32954030: 32954030
426BRCA2NM_000059.3(BRCA2): c.9294C> G (p.Tyr3098Ter)single nucleotide variantPathogenicrs80359200GRCh37Chr 13, 32968863: 32968863
427BRCA2NM_000059.3(BRCA2): c.9435_9436delGT (p.Ser3147Cysfs)deletionPathogenicrs80359763GRCh37Chr 13, 32969004: 32969005
428BRCA2NM_000059.3(BRCA2): c.5130_5133delTGTA (p.Tyr1710Terfs)deletionPathogenicrs80359484GRCh37Chr 13, 32913622: 32913625
429BRCA2NM_000059.3(BRCA2): c.7558C> T (p.Arg2520Ter)single nucleotide variantPathogenicrs80358981GRCh37Chr 13, 32930687: 32930687
430BRCA2NM_000059.3(BRCA2): c.9154C> T (p.Arg3052Trp)single nucleotide variantPathogenicrs45580035GRCh37Chr 13, 32954180: 32954180
431BRCA1NM_007294.3(BRCA1): c.1008dupA (p.Glu337Argfs)duplicationPathogenicrs67284603GRCh37Chr 17, 41246540: 41246540
432BRCA1NM_007294.3(BRCA1): c.1011dupA (p.Val340Glyfs)duplicationPathogenicrs80357569GRCh37Chr 17, 41246532: 41246532
433BRCA1NM_007294.3(BRCA1): c.101delC (p.Pro34Leufs)deletionPathogenicrs80357750GRCh37Chr 17, 41267776: 41267776
434BRCA1NM_007294.3(BRCA1): c.1045G> T (p.Glu349Ter)single nucleotide variantPathogenicrs80357338GRCh37Chr 17, 41246503: 41246503
435BRCA1NM_007294.3(BRCA1): c.1054G> T (p.Glu352Ter)single nucleotide variantPathogenicrs80357472GRCh37Chr 17, 41246494: 41246494
436BRCA1NM_007294.3(BRCA1): c.1058G> A (p.Trp353Ter)single nucleotide variantPathogenicrs80356908GRCh37Chr 17, 41246490: 41246490
437BRCA1NM_007294.3(BRCA1): c.1059G> A (p.Trp353Ter)single nucleotide variantPathogenicrs80356935GRCh37Chr 17, 41246489: 41246489
438BRCA1NM_007294.3(BRCA1): c.1066C> T (p.Gln356Ter)single nucleotide variantPathogenicrs80357215GRCh37Chr 17, 41246482: 41246482
439BRCA1NM_007294.3(BRCA1): c.1067delA (p.Gln356Argfs)deletionPathogenicrs80357796GRCh37Chr 17, 41246481: 41246481
440BRCA1NM_007294.3(BRCA1): c.1072delC (p.Leu358Cysfs)deletionPathogenicrs80357836GRCh37Chr 17, 41246476: 41246476
441BRCA1NM_007294.3(BRCA1): c.1082_1092delCAGAGAATCCT (p.Ser361Terfs)deletionPathogenicrs80359880GRCh37Chr 17, 41246456: 41246466
442BRCA1NM_007294.3(BRCA1): c.1086_1087delGA (p.Asn363Serfs)deletionPathogenicrs80357897GRCh37Chr 17, 41246461: 41246462
443BRCA1NM_007294.3(BRCA1): c.1088delA (p.Asn363Ilefs)deletionPathogenicrs80357954GRCh37Chr 17, 41246460: 41246460
444BRCA1NM_007294.3(BRCA1): c.1102G> T (p.Glu368Ter)single nucleotide variantPathogenicrs80357139GRCh37Chr 17, 41246446: 41246446
445BRCA1NM_007294.3(BRCA1): c.110C> A (p.Thr37Lys)single nucleotide variantPathogenicrs80356880GRCh37Chr 17, 41267767: 41267767
446BRCA1NM_007294.3(BRCA1): c.1116G> A (p.Trp372Ter)single nucleotide variantPathogenicrs80357468GRCh37Chr 17, 41246432: 41246432
447BRCA1NM_007294.3(BRCA1): c.1121_1123delCACinsT (p.Thr374Ilefs)indelPathogenicrs273897652GRCh37Chr 17, 41246425: 41246427
448BRCA1NM_007294.3(BRCA1): c.1127delA (p.Asn376Ilefs)deletionPathogenicrs80357821GRCh37Chr 17, 41246421: 41246421
449BRCA1NM_007294.3(BRCA1): c.112_113delAA (p.Lys38Valfs)deletionPathogenicrs80357949GRCh37Chr 17, 41267764: 41267765
450BRCA1NM_007294.3(BRCA1): c.1141A> T (p.Lys381Ter)single nucleotide variantPathogenicrs80357385GRCh37Chr 17, 41246407: 41246407
451BRCA1NM_007294.3(BRCA1): c.115T> C (p.Cys39Arg)single nucleotide variantPathogenicrs80357164GRCh37Chr 17, 41267762: 41267762
452BRCA1NM_007294.3(BRCA1): c.1165delA (p.Ser389Valfs)deletionPathogenicrs80357985GRCh37Chr 17, 41246383: 41246383
453BRCA1NM_007294.3(BRCA1): c.1166delG (p.Ser389Metfs)deletionPathogenicrs273897653GRCh37Chr 17, 41246382: 41246382
454BRCA1NM_007294.3(BRCA1): c.117_118delTG (p.Cys39Terfs)deletionPathogenicrs80357972GRCh37Chr 17, 41267759: 41267760
455BRCA1NM_007294.3(BRCA1): c.1193C> G (p.Ser398Ter)single nucleotide variantPathogenicrs80357068GRCh37Chr 17, 41246355: 41246355
456BRCA1NM_007294.3(BRCA1): c.1204delG (p.Glu402Serfs)deletionPathogenicrs80357859GRCh37Chr 17, 41246344: 41246344
457BRCA1NM_007294.3(BRCA1): c.1214C> A (p.Ser405Ter)single nucleotide variantPathogenicrs80357481GRCh37Chr 17, 41246334: 41246334
458BRCA1NM_007294.3(BRCA1): c.122A> G (p.His41Arg)single nucleotide variantPathogenicrs80357276GRCh37Chr 17, 41267755: 41267755
459BRCA1NM_007294.3(BRCA1): c.1240_1246delGACGTTC (p.Asp414Terfs)deletionPathogenicrs80357964GRCh37Chr 17, 41246302: 41246308
460BRCA1NM_007294.3(BRCA1): c.1241dupA (p.Asp414Glufs)duplicationPathogenicrs80357514GRCh37Chr 17, 41246307: 41246307
461BRCA1NM_007294.3(BRCA1): c.124delA (p.Ile42Tyrfs)deletionPathogenicrs80357943GRCh37Chr 17, 41267753: 41267753
462BRCA1NM_007294.3(BRCA1): c.1252G> T (p.Glu418Ter)single nucleotide variantPathogenicrs80357083GRCh37Chr 17, 41246296: 41246296
463BRCA1NM_007294.3(BRCA1): c.1255delG (p.Val419Terfs)deletionPathogenicrs80357535GRCh37Chr 17, 41246293: 41246293
464BRCA1NM_007294.3(BRCA1): c.1265dupA (p.Tyr422Terfs)duplicationPathogenicrs80357809GRCh37Chr 17, 41246283: 41246283
465BRCA1NM_007294.3(BRCA1): c.1266T> G (p.Tyr422Ter)single nucleotide variantPathogenicrs80357417GRCh37Chr 17, 41246282: 41246282
466BRCA1NM_007294.3(BRCA1): c.1276delT (p.Ser426Glnfs)deletionPathogenicrs80357766GRCh37Chr 17, 41246272: 41246272
467BRCA1NM_007294.3(BRCA1): c.1287dupA (p.Asp430Argfs)duplicationPathogenicrs80357576GRCh37Chr 17, 41246261: 41246261
468BRCA1NM_007294.3(BRCA1): c.1292T> G (p.Leu431Ter)single nucleotide variantPathogenicrs80357346GRCh37Chr 17, 41246256: 41246256
469BRCA1NM_007294.3(BRCA1): c.1292dupT (p.Leu431Phefs)duplicationPathogenicrs80357528GRCh37Chr 17, 41246256: 41246256
470BRCA1NM_007294.3(BRCA1): c.1297delG (p.Ala433Profs)deletionPathogenicrs80357794GRCh37Chr 17, 41246251: 41246251
471BRCA1NM_007294.3(BRCA1): c.130T> A (p.Cys44Ser)single nucleotide variantPathogenicrs80357327GRCh37Chr 17, 41267747: 41267747
472BRCA1NM_007294.3(BRCA1): c.130delT (p.Cys44Alafs)deletionPathogenicrs80357951GRCh37Chr 17, 41267747: 41267747
473BRCA1NM_007294.3(BRCA1): c.1319delT (p.Leu440Terfs)deletionPathogenicrs80357683GRCh37Chr 17, 41246229: 41246229
474BRCA1NM_007294.3(BRCA1): c.131G> A (p.Cys44Tyr)single nucleotide variantPathogenicrs80357446GRCh37Chr 17, 41267746: 41267746
475BRCA1NM_007294.3(BRCA1): c.131G> T (p.Cys44Phe)single nucleotide variantLikely pathogenic, Pathogenicrs80357446GRCh37Chr 17, 41267746: 41267746
476BRCA1NM_007294.3(BRCA1): c.1323_1324delAT (p.Ile441Metfs)deletionPathogenicrs80357570GRCh37Chr 17, 41246224: 41246225
477BRCA1NM_007294.3(BRCA1): c.1333G> T (p.Glu445Ter)single nucleotide variantPathogenicrs80356915GRCh37Chr 17, 41246215: 41246215
478BRCA1NM_007294.3(BRCA1): c.1335_1336delAA (p.Arg446Serfs)deletionPathogenicrs80357978GRCh37Chr 17, 41246212: 41246213
479BRCA1NM_007294.3(BRCA1): c.134+1G> Tsingle nucleotide variantPathogenicrs80358043GRCh37Chr 17, 41267742: 41267742
480BRCA1NM_007294.3(BRCA1): c.134+2T> Gsingle nucleotide variantPathogenicrs80358131GRCh37Chr 17, 41267741: 41267741
481BRCA1NM_007294.3(BRCA1): c.135-1G> Csingle nucleotide variantPathogenicrs80358158GRCh37Chr 17, 41258551: 41258551
482BRCA1NM_007294.3(BRCA1): c.1352C> A (p.Ser451Ter)single nucleotide variantPathogenicrs80356891GRCh37Chr 17, 41246196: 41246196
483BRCA1NM_007294.3(BRCA1): c.1352C> G (p.Ser451Ter)single nucleotide variantPathogenicrs80356891GRCh37Chr 17, 41246196: 41246196
484BRCA1NM_007294.3(BRCA1): c.1380dupA (p.Phe461Ilefs)duplicationPathogenicrs80357714GRCh37Chr 17, 41246168: 41246168
485BRCA1NM_007294.3(BRCA1): c.1383delT (p.Phe461Leufs)deletionPathogenicrs80357879GRCh37Chr 17, 41246165: 41246165
486BRCA1NM_007294.3(BRCA1): c.1386delG (p.Thr464Profs)deletionPathogenicrs80357722GRCh37Chr 17, 41246162: 41246162
487BRCA1NM_007294.3(BRCA1): c.1386dupG (p.Lys463Glufs)duplicationPathogenicrs397508865GRCh37Chr 17, 41246162: 41246162
488BRCA1NM_007294.3(BRCA1): c.1390delA (p.Thr464Profs)deletionPathogenicrs80357770GRCh37Chr 17, 41246158: 41246158
489BRCA1NM_007294.3(BRCA1): c.1399A> T (p.Lys467Ter)single nucleotide variantPathogenicrs80357279GRCh37Chr 17, 41246149: 41246149
490BRCA1NM_007294.3(BRCA1): c.140G> T (p.Cys47Phe)single nucleotide variantLikely pathogenic, Pathogenicrs80357150GRCh37Chr 17, 41258545: 41258545
491BRCA1NM_007294.3(BRCA1): c.1421T> G (p.Leu474Ter)single nucleotide variantPathogenicrs80357490GRCh37Chr 17, 41246127: 41246127
492BRCA1NM_007294.3(BRCA1): c.1439dupA (p.Asn480Lysfs)duplicationPathogenicrs80357505GRCh37Chr 17, 41246109: 41246109
493BRCA1NM_007294.3(BRCA1): c.1444delA (p.Ile482Leufs)deletionPathogenicrs80357648GRCh37Chr 17, 41246104: 41246104
494BRCA1NM_007294.3(BRCA1): c.144delG (p.Met48Ilefs)deletionPathogenicrs80357682GRCh37Chr 17, 41258541: 41258541
495BRCA1NM_007294.3(BRCA1): c.1450G> T (p.Gly484Ter)single nucleotide variantPathogenicrs80357304GRCh37Chr 17, 41246098: 41246098
496BRCA1NM_007294.3(BRCA1): c.1471C> T (p.Gln491Ter)single nucleotide variantPathogenicrs62625303GRCh37Chr 17, 41246077: 41246077
497BRCA1NM_007294.3(BRCA1): c.1492delC (p.Leu498Serfs)deletionPathogenicrs80357527GRCh37Chr 17, 41246056: 41246056
498BRCA1NM_007294.3(BRCA1): c.1497_1500delAAAT (p.Lys501Terfs)deletionPathogenicrs80357632GRCh37Chr 17, 41246048: 41246051
499BRCA1NM_007294.3(BRCA1): c.1508delA (p.Lys503Serfs)deletionPathogenicrs80357506GRCh37Chr 17, 41246040: 41246040
500BRCA1NM_007294.3(BRCA1): c.150delA (p.Lys50Asnfs)deletionPathogenicrs273897662GRCh37Chr 17, 41258535: 41258535
501BRCA1NM_007294.3(BRCA1): c.1511dupG (p.Lys505Terfs)duplicationPathogenicrs80357817GRCh37Chr 17, 41246037: 41246037
502BRCA1NM_007294.3(BRCA1): c.1523delC (p.Pro508Leufs)deletionPathogenicrs80357782GRCh37Chr 17, 41246025: 41246025
503BRCA1NM_007294.3(BRCA1): c.1529C> G (p.Ser510Ter)single nucleotide variantPathogenicrs80357427GRCh37Chr 17, 41246019: 41246019
504BRCA1NM_007294.3(BRCA1): c.1530delA (p.Gly511Alafs)deletionPathogenicrs80357735GRCh37Chr 17, 41246018: 41246018
505BRCA1NM_007294.3(BRCA1): c.1551delT (p.Phe517Leufs)deletionPathogenicrs80357630GRCh37Chr 17, 41245997: 41245997
506BRCA1NM_007294.3(BRCA1): c.1576C> T (p.Gln526Ter)single nucleotide variantPathogenicrs80356984GRCh37Chr 17, 41245972: 41245972
507BRCA1NM_007294.3(BRCA1): c.1583_1589delCTCCTGA (p.Thr528Lysfs)deletionPathogenicrs80357613GRCh37Chr 17, 41245959: 41245965
508BRCA1NM_007294.3(BRCA1): c.1600C> T (p.Gln534Ter)single nucleotide variantPathogenicrs142074233GRCh37Chr 17, 41245948: 41245948
509BRCA1NM_007294.3(BRCA1): c.1608_1611delTAAC (p.Asn537Lysfs)deletionPathogenicrs80357698GRCh37Chr 17, 41245937: 41245940
510BRCA1NM_007294.3(BRCA1): c.160C> T (p.Gln54Ter)single nucleotide variantPathogenicrs80356864GRCh37Chr 17, 41258525: 41258525
511BRCA1NM_007294.3(BRCA1): c.1612C> T (p.Gln538Ter)single nucleotide variantPathogenicrs80356893GRCh37Chr 17, 41245936: 41245936
512BRCA1NM_007294.3(BRCA1): c.1621C> T (p.Gln541Ter)single nucleotide variantPathogenicrs80356904GRCh37Chr 17, 41245927: 41245927
513BRCA1NM_007294.3(BRCA1): c.1630C> T (p.Gln544Ter)single nucleotide variantPathogenicrs80356952GRCh37Chr 17, 41245918: 41245918
514BRCA1NM_007294.3(BRCA1): c.1636_1654del19 (p.Met546Valfs)deletionPathogenicrs80359881GRCh37Chr 17, 41245894: 41245912
515BRCA1NM_007294.3(BRCA1): c.1649delA (p.Asn550Ilefs)deletionPathogenicrs80357619GRCh37Chr 17, 41245899: 41245899
516BRCA1NM_007294.3(BRCA1): c.1713_1717delAGAAT (p.Glu572Thrfs)deletionPathogenicrs80357640GRCh37Chr 17, 41245831: 41245835
517BRCA1NM_007294.3(BRCA1): c.1729_1730delGA (p.Glu577Ilefs)deletionPathogenicrs80357834GRCh37Chr 17, 41245818: 41245819
518BRCA1NM_007294.3(BRCA1): c.1747A> T (p.Lys583Ter)single nucleotide variantPathogenicrs80356928GRCh37Chr 17, 41245801: 41245801
519BRCA1NM_007294.3(BRCA1): c.1757delC (p.Pro586Leufs)deletionPathogenicrs80357723GRCh37Chr 17, 41245791: 41245791
520BRCA1NM_007294.3(BRCA1): c.1772delT (p.Ile591Lysfs)deletionPathogenicrs80357901GRCh37Chr 17, 41245776: 41245776
521BRCA1NM_007294.3(BRCA1): c.1789G> T (p.Glu597Ter)single nucleotide variantPathogenicrs55650082GRCh37Chr 17, 41245759: 41245759
522BRCA1NM_007294.3(BRCA1): c.178C> T (p.Gln60Ter)single nucleotide variantPathogenicrs80357471GRCh37Chr 17, 41258507: 41258507
523BRCA1NM_007294.3(BRCA1): c.1793T> A (p.Leu598Ter)single nucleotide variantPathogenicrs80357118GRCh37Chr 17, 41245755: 41245755
524BRCA1NM_007294.3(BRCA1): c.1793T> G (p.Leu598Ter)single nucleotide variantPathogenicrs80357118GRCh37Chr 17, 41245755: 41245755
525BRCA1NM_007294.3(BRCA1): c.179delA (p.Gln60Argfs)deletionPathogenicrs80357591GRCh37Chr 17, 41258506: 41258506
526BRCA1NM_007294.3(BRCA1): c.1819A> T (p.Lys607Ter)single nucleotide variantPathogenicrs80357220GRCh37Chr 17, 41245729: 41245729
527BRCA1NM_007294.3(BRCA1): c.1823_1826delAGAA (p.Lys608Ilefs)deletionPathogenicrs80357585GRCh37Chr 17, 41245722: 41245725
528BRCA1NM_007294.3(BRCA1): c.1825delA (p.Asn609Ilefs)deletionPathogenicrs80357736GRCh37Chr 17, 41245723: 41245723
529BRCA1NM_007294.3(BRCA1): c.182_183delGT (p.Cys61Serfs)deletionLikely pathogenicrs397508912GRCh37Chr 17, 41258502: 41258503
530BRCA1NM_007294.3(BRCA1): c.1837delA (p.Arg613Glyfs)deletionPathogenicrs80357652GRCh37Chr 17, 41245711: 41245711
531BRCA1NM_007294.3(BRCA1): c.1840A> T (p.Lys614Ter)single nucleotide variantPathogenicrs80357282GRCh37Chr 17, 41245708: 41245708
532BRCA1NM_007294.3(BRCA1): c.1870G> T (p.Glu624Ter)single nucleotide variantPathogenicrs80356950GRCh37Chr 17, 41245678: 41245678
533BRCA1NM_007294.3(BRCA1): c.1874_1877dupTAGT (p.Val627Serfs)duplicationPathogenicrs80357516GRCh37Chr 17, 41245671: 41245674
534BRCA1NM_007294.3(BRCA1): c.1881_1884delCAGT (p.Ser628Glufs)deletionPathogenicrs80357567GRCh37Chr 17, 41245664: 41245667
535BRCA1NM_007294.3(BRCA1): c.188T> A (p.Leu63Ter)single nucleotide variantPathogenicrs80357086GRCh37Chr 17, 41258497: 41258497
536BRCA1NM_007294.3(BRCA1): c.1892dupT (p.Ser632Lysfs)duplicationPathogenicrs80357932GRCh37Chr 17, 41245656: 41245656
537BRCA1NM_007294.3(BRCA1): c.1898delC (p.Pro633Hisfs)deletionPathogenicrs80357851GRCh37Chr 17, 41245650: 41245650
538BRCA1NM_007294.3(BRCA1): c.189dupA (p.Cys64Metfs)duplicationPathogenicrs273897665GRCh37Chr 17, 41258496: 41258496
539BRCA1NM_007294.3(BRCA1): c.1912G> T (p.Glu638Ter)single nucleotide variantPathogenicrs80357005GRCh37Chr 17, 41245636: 41245636
540BRCA1NM_007294.3(BRCA1): c.1912delG (p.Glu638Asnfs)deletionPathogenicrs80357933GRCh37Chr 17, 41245636: 41245636
541BRCA1NM_007294.3(BRCA1): c.1916T> A (p.Leu639Ter)single nucleotide variantPathogenicrs80357267GRCh37Chr 17, 41245632: 41245632
542BRCA1NM_007294.3(BRCA1): c.191G> A (p.Cys64Tyr)single nucleotide variantPathogenicrs55851803GRCh37Chr 17, 41258494: 41258494
543BRCA1NM_007294.3(BRCA1): c.1945G> T (p.Glu649Ter)single nucleotide variantPathogenicrs80356907GRCh37Chr 17, 41245603: 41245603
544BRCA1NM_007294.3(BRCA1): c.1952dupA (p.Lys652Glufs)duplicationPathogenicrs80357885GRCh37Chr 17, 41245596: 41245596
545BRCA1NM_007294.3(BRCA1): c.1953dupG (p.Lys652Glufs)duplicationPathogenicrs80357753GRCh37Chr 17, 41245595: 41245595
546BRCA1NM_007294.3(BRCA1): c.195delG (p.Asn66Metfs)deletionLikely pathogenic, Pathogenicrs80357869GRCh37Chr 17, 41258490: 41258490
547BRCA1NM_007294.3(BRCA1): c.1960_1961delAA (p.Lys654Valfs)deletionPathogenicrs80357643GRCh37Chr 17, 41245587: 41245588
548BRCA1NM_007294.3(BRCA1): c.1961dupA (p.Tyr655Valfs)duplicationPathogenicrs80357853GRCh37Chr 17, 41245587: 41245587
549BRCA1NM_007294.3(BRCA1): c.1996delC (p.Leu666Tyrfs)deletionPathogenicrs80357922GRCh37Chr 17, 41245552: 41245552
550BRCA1NM_007294.3(BRCA1): c.1999C> T (p.Gln667Ter)single nucleotide variantPathogenicrs80356889GRCh37Chr 17, 41245549: 41245549
551BRCA1NM_007294.3(BRCA1): c.1A> G (p.Met1Val)single nucleotide variantPathogenicrs80357287GRCh37Chr 17, 41276113: 41276113
552BRCA1NM_007294.3(BRCA1): c.2017G> T (p.Glu673Ter)single nucleotide variantPathogenicrs80357391GRCh37Chr 17, 41245531: 41245531
553BRCA1NM_007294.3(BRCA1): c.2017delG (p.Glu673Asnfs)deletionPathogenicrs80357638GRCh37Chr 17, 41245531: 41245531
554BRCA1NM_007294.3(BRCA1): c.2019delA (p.Glu673Aspfs)deletionPathogenicrs80357626GRCh37Chr 17, 41245529: 41245529
555BRCA1NM_007294.3(BRCA1): c.2035A> T (p.Lys679Ter)single nucleotide variantPathogenicrs80357082GRCh37Chr 17, 41245513: 41245513
556BRCA1NM_007294.3(BRCA1): c.2059C> T (p.Gln687Ter)single nucleotide variantPathogenicrs273898674GRCh37Chr 17, 41245489: 41245489
557BRCA1NM_007294.3(BRCA1): c.2074delC (p.His692Metfs)deletionPathogenicrs80357554GRCh37Chr 17, 41245474: 41245474
558BRCA1NM_007294.3(BRCA1): c.2079_2080delCA (p.Asp693Glufs)deletionPathogenicrs80357773GRCh37Chr 17, 41245468: 41245469
559BRCA1NM_007294.3(BRCA1): c.2105T> G (p.Leu702Ter)single nucleotide variantPathogenicrs80357298GRCh37Chr 17, 41245443: 41245443
560BRCA1NM_007294.3(BRCA1): c.2110_2111delAA (p.Asn704Cysfs)deletionPathogenicrs80357814GRCh37Chr 17, 41245437: 41245438
561BRCA1NM_007294.3(BRCA1): c.212+1G> Csingle nucleotide variantPathogenicrs80358042GRCh37Chr 17, 41258472: 41258472
562BRCA1NM_007294.3(BRCA1): c.212+1G> Tsingle nucleotide variantPathogenicrs80358042GRCh37Chr 17, 41258472: 41258472
563BRCA1NM_007294.3(BRCA1): c.212+2T> Csingle nucleotide variantPathogenicrs80358026GRCh37Chr 17, 41258471: 41258471
564BRCA1NM_007294.3(BRCA1): c.212+3A> Gsingle nucleotide variantPathogenicrs80358083GRCh37Chr 17, 41258470: 41258470
565BRCA1NM_007294.3(BRCA1): c.2125_2126insA (p.Phe709Tyrfs)insertionPathogenicrs80357871GRCh37Chr 17, 41245422: 41245423
566BRCA1NM_007294.3(BRCA1): c.212G> A (p.Arg71Lys)single nucleotide variantPathogenicrs80356913GRCh37Chr 17, 41258473: 41258473
567BRCA1NM_007294.3(BRCA1): c.213-1G> Asingle nucleotide variantPathogenicrs80358146GRCh37Chr 17, 41256974: 41256974
568BRCA1NM_007294.3(BRCA1): c.2142delT (p.Asn714Lysfs)deletionPathogenicrs273898679GRCh37Chr 17, 41245406: 41245406
569BRCA1NM_007294.3(BRCA1): c.2157dupA (p.Glu720Argfs)duplicationPathogenicrs80357715GRCh37Chr 17, 41245391: 41245391
570BRCA1NM_007294.3(BRCA1): c.2176delC (p.Leu726Phefs)deletionPathogenicrs80357668GRCh37Chr 17, 41245372: 41245372
571BRCA1NM_007294.3(BRCA1): c.2188G> T (p.Glu730Ter)single nucleotide variantPathogenicrs80357058GRCh37Chr 17, 41245360: 41245360
572BRCA1NM_007294.3(BRCA1): c.2188_2201delGAAAAAGAAGAGAA (p.Glu730Thrfs)deletionPathogenicrs273898681GRCh37Chr 17, 41245347: 41245360
573BRCA1NM_007294.3(BRCA1): c.2192_2196delAAGAA (p.Lys731Argfs)deletionPathogenicrs397508946GRCh37Chr 17, 41245352: 41245356
574BRCA1NM_007294.3(BRCA1): c.2194G> T (p.Glu732Ter)single nucleotide variantPathogenicrs80357426GRCh37Chr 17, 41245354: 41245354
575BRCA1NM_007294.3(BRCA1): c.2197G> T (p.Glu733Ter)single nucleotide variantPathogenicrs397508949GRCh37Chr 17, 41245351: 41245351
576BRCA1NM_007294.3(BRCA1): c.2197_2201delGAGAA (p.Glu733Thrfs)deletionPathogenicrs80357507GRCh37Chr 17, 41245347: 41245351
577BRCA1NM_007294.3(BRCA1): c.2202delA (p.Lys734Asnfs)deletionPathogenicrs80357982GRCh37Chr 17, 41245346: 41245346
578BRCA1NM_007294.3(BRCA1): c.2203delC (p.Leu735Terfs)deletionPathogenicrs80357936GRCh37Chr 17, 41245345: 41245345
579BRCA1NM_007294.3(BRCA1): c.2206delG (p.Glu736Lysfs)deletionPathogenicrs80357860GRCh37Chr 17, 41245342: 41245342
580BRCA1NM_007294.3(BRCA1): c.220C> T (p.Gln74Ter)single nucleotide variantPathogenicrs80357234GRCh37Chr 17, 41256966: 41256966
581BRCA1NM_007294.3(BRCA1): c.2210delC (p.Thr737Lysfs)deletionPathogenicrs80357793GRCh37Chr 17, 41245338: 41245338
582BRCA1NM_007294.3(BRCA1): c.2215A> T (p.Lys739Ter)single nucleotide variantPathogenicrs56329598GRCh37Chr 17, 41245333: 41245333
583BRCA1NM_007294.3(BRCA1): c.2216_2217delAA (p.Lys739Serfs)deletionLikely pathogenic, Pathogenicrs397508952GRCh37Chr 17, 41245331: 41245332
584BRCA1NM_007294.3(BRCA1): c.2236dupG (p.Asp746Glyfs)duplicationPathogenicrs80357909GRCh37Chr 17, 41245312: 41245312
585BRCA1NM_007294.3(BRCA1): c.2241delC (p.Asp749Ilefs)deletionPathogenicrs80357650GRCh37Chr 17, 41245307: 41245307
586BRCA1NM_007294.3(BRCA1): c.2241dupC (p.Lys748Glnfs)duplicationPathogenicrs397508953GRCh37Chr 17, 41245307: 41245307
587BRCA1NM_007294.3(BRCA1): c.2248_2252delCTCAT (p.Leu750Valfs)deletionPathogenicrs397508954GRCh37Chr 17, 41245296: 41245300
588BRCA1NM_007294.3(BRCA1): c.224_227delAAAG (p.Glu75Valfs)deletionPathogenicrs80357697GRCh37Chr 17, 41256959: 41256962
589BRCA1NM_007294.3(BRCA1): c.2253_2254delGT (p.Met751Ilefs)deletionPathogenicrs80357602GRCh37Chr 17, 41245294: 41245295
590BRCA1NM_007294.3(BRCA1): c.2263G> T (p.Glu755Ter)single nucleotide variantPathogenicrs41286296GRCh37Chr 17, 41245285: 41245285
591BRCA1NM_007294.3(BRCA1): c.2263delG (p.Glu755Lysfs)deletionPathogenicrs80357960GRCh37Chr 17, 41245285: 41245285
592BRCA1NM_007294.3(BRCA1): c.2275C> T (p.Gln759Ter)single nucleotide variantPathogenicrs80356999GRCh37Chr 17, 41245273: 41245273
593BRCA1NM_007294.3(BRCA1): c.2283_2284delAA (p.Arg762Ilefs)deletionPathogenicrs80357657GRCh37Chr 17, 41245264: 41245265
594BRCA1NM_007294.3(BRCA1): c.2293G> T (p.Glu765Ter)single nucleotide variantPathogenicrs80357449GRCh37Chr 17, 41245255: 41245255
595BRCA1NM_007294.3(BRCA1): c.2309C> A (p.Ser770Ter)single nucleotide variantPathogenicrs80357063GRCh37Chr 17, 41245239: 41245239
596BRCA1NM_007294.3(BRCA1): c.2314delG (p.Val772Tyrfs)deletionPathogenicrs80357957GRCh37Chr 17, 41245234: 41245234
597BRCA1NM_007294.3(BRCA1): c.2329delT (p.Tyr777Metfs)deletionPathogenicrs80357725GRCh37Chr 17, 41245219: 41245219
598BRCA1NM_007294.3(BRCA1): c.232delA (p.Arg78Aspfs)deletionPathogenicrs80357884GRCh37Chr 17, 41256954: 41256954
599BRCA1NM_007294.3(BRCA1): c.2331T> A (p.Tyr777Ter)single nucleotide variantPathogenicrs80357444GRCh37Chr 17, 41245217: 41245217
600BRCA1NM_007294.3(BRCA1): c.2338C> T (p.Gln780Ter)single nucleotide variantPathogenicrs80356945GRCh37Chr 17, 41245210: 41245210
601BRCA1NM_007294.3(BRCA1): c.2351_2357delCGTTACT (p.Ser784Trpfs)deletionPathogenicrs80357820GRCh37Chr 17, 41245191: 41245197
602BRCA1NM_007294.3(BRCA1): c.2359dupG (p.Glu787Glyfs)duplicationPathogenicrs80357739GRCh37Chr 17, 41245189: 41245189
603BRCA1NM_007294.3(BRCA1): c.2389_2390delGA (p.Glu797Thrfs)deletionPathogenicrs80357695GRCh37Chr 17, 41245158: 41245159
604BRCA1NM_007294.3(BRCA1): c.2390_2391delAA (p.Glu797Alafs)deletionPathogenicrs80357546GRCh37Chr 17, 41245157: 41245158
605BRCA1NM_007294.3(BRCA1): c.2393delC (p.Pro798Glnfs)deletionPathogenicrs80357850GRCh37Chr 17, 41245155: 41245155
606BRCA1NM_007294.3(BRCA1): c.2403T> A (p.Cys801Ter)single nucleotide variantPathogenicrs80357381GRCh37Chr 17, 41245145: 41245145
607BRCA1NM_007294.3(BRCA1): c.2405_2406delTG (p.Val802Glufs)deletionPathogenicrs80357706GRCh37Chr 17, 41245142: 41245143
608BRCA1NM_007294.3(BRCA1): c.2406_2409delGAGT (p.Gln804Valfs)deletionPathogenicrs80357674GRCh37Chr 17, 41245139: 41245142
609BRCA1NM_007294.3(BRCA1): c.2410C> T (p.Gln804Ter)single nucleotide variantPathogenicrs80356982GRCh37Chr 17, 41245138: 41245138
610BRCA1NM_007294.3(BRCA1): c.241C> T (p.Gln81Ter)single nucleotide variantPathogenicrs80357350GRCh37Chr 17, 41256945: 41256945
611BRCA1NM_007294.3(BRCA1): c.2437G> T (p.Gly813Ter)single nucleotide variantPathogenicrs80357186GRCh37Chr 17, 41245111: 41245111
612BRCA1NM_007294.3(BRCA1): c.2443delA (p.Ile815Phefs)deletionPathogenicrs80357598GRCh37Chr 17, 41245105: 41245105
613BRCA1NM_007294.3(BRCA1): c.2450delG (p.Gly817Valfs)deletionPathogenicrs80357679GRCh37Chr 17, 41245098: 41245098
614BRCA1NM_007294.3(BRCA1): c.2468delG (p.Arg823Lysfs)deletionPathogenicrs80357799GRCh37Chr 17, 41245080: 41245080
615BRCA1NM_007294.3(BRCA1): c.2476delA (p.Thr826Glnfs)deletionPathogenicrs80357631GRCh37Chr 17, 41245072: 41245072
616BRCA1NM_007294.3(BRCA1): c.2477_2478delCA (p.Thr826Argfs)deletionPathogenicrs80357800GRCh37Chr 17, 41245070: 41245071
617BRCA1NM_007294.3(BRCA1): c.2477delC (p.Thr826Lysfs)deletionPathogenicrs80357740GRCh37Chr 17, 41245071: 41245071
618BRCA1NM_007294.3(BRCA1): c.2487delT (p.Phe829Leufs)deletionPathogenicrs80357658GRCh37Chr 17, 41245061: 41245061
619BRCA1NM_007294.3(BRCA1): c.2513delA (p.Asn838Thrfs)deletionPathogenicrs80357863GRCh37Chr 17, 41245035: 41245035
620BRCA1NM_007294.3(BRCA1): c.2517_2518delCA (p.His839Glnfs)deletionPathogenicrs397508974GRCh37Chr 17, 41245030: 41245031
621BRCA1NM_007294.3(BRCA1): c.2545G> T (p.Glu849Ter)single nucleotide variantPathogenicrs80356951GRCh37Chr 17, 41245003: 41245003
622BRCA1NM_007294.3(BRCA1): c.2558dupA (p.Asp853Glufs)duplicationPathogenicrs80357835GRCh37Chr 17, 41244990: 41244990
623BRCA1NM_007294.3(BRCA1): c.2560_2561dupGC (p.Gln855Leufs)duplicationPathogenicrs80357968GRCh37Chr 17, 41244987: 41244988
624BRCA1NM_007294.3(BRCA1): c.2568T> G (p.Tyr856Ter)single nucleotide variantPathogenicrs80356832GRCh37Chr 17, 41244980: 41244980
625BRCA1NM_007294.3(BRCA1): c.2594delA (p.Lys865Serfs)deletionPathogenicrs80357756GRCh37Chr 17, 41244954: 41244954
626BRCA1NM_007294.3(BRCA1): c.2611_2612delCC (p.Pro871Valfs)deletionPathogenicrs80357962GRCh37Chr 17, 41244936: 41244937
627BRCA1NM_007294.3(BRCA1): c.2612_2613insT (p.Phe872Valfs)insertionPathogenicrs80357948GRCh37Chr 17, 41244935: 41244936
628BRCA1NM_007294.3(BRCA1): c.2617dupT (p.Ser873Phefs)duplicationPathogenicrs80357912GRCh37Chr 17, 41244932: 41244932
629BRCA1NM_007294.3(BRCA1): c.2641G> T (p.Glu881Ter)single nucleotide variantPathogenicrs397508988GRCh37Chr 17, 41244907: 41244907
630BRCA1NM_007294.3(BRCA1): c.2646_2648delTGC (p.Cys882_Ser1217delinsTer)deletionPathogenicrs80357513GRCh37Chr 17, 41244900: 41244902
631BRCA1NM_007294.3(BRCA1): c.2657_2658delCT (p.Ser886Cysfs)deletionPathogenicrs397508990GRCh37Chr 17, 41244890: 41244891
632BRCA1NM_007294.3(BRCA1): c.2670delG (p.Ser891Profs)deletionPathogenicrs80357659GRCh37Chr 17, 41244878: 41244878
633BRCA1NM_007294.3(BRCA1): c.2675_2678delTAAA (p.Leu892Terfs)deletionPathogenicrs80357518GRCh37Chr 17, 41244870: 41244873
634BRCA1NM_007294.3(BRCA1): c.2685_2686delAA (p.Pro897Lysfs)deletionPathogenicrs80357636GRCh37Chr 17, 41244862: 41244863
635BRCA1NM_007294.3(BRCA1): c.2694dupA (p.Val899Serfs)duplicationPathogenicrs80357549GRCh37Chr 17, 41244854: 41244854
636BRCA1NM_007294.3(BRCA1): c.269_281delTTTGTGCTTTTCA (p.Ile90Serfs)deletionPathogenicrs80359879GRCh37Chr 17, 41256905: 41256917
637BRCA1NM_007294.3(BRCA1): c.2702_2703delTT (p.Phe901Terfs)deletionPathogenicrs80357899GRCh37Chr 17, 41244845: 41244846
638BRCA1NM_007294.3(BRCA1): c.2709delT (p.Cys903Trpfs)deletionPathogenicrs80357594GRCh37Chr 17, 41244839: 41244839
639BRCA1NM_007294.3(BRCA1): c.2713C> T (p.Gln905Ter)single nucleotide variantPathogenicrs397509002GRCh37Chr 17, 41244835: 41244835
640BRCA1NM_007294.3(BRCA1): c.2719_2722delGAAG (p.Glu907Lysfs)deletionPathogenicrs80357731GRCh37Chr 17, 41244826: 41244829
641BRCA1NM_007294.3(BRCA1): c.2722G> T (p.Glu908Ter)single nucleotide variantLikely pathogenic, Pathogenicrs80356978GRCh37Chr 17, 41244826: 41244826
642BRCA1NM_007294.3(BRCA1): c.2726_2730delATCAA (p.Asn909Argfs)deletionPathogenicrs80357712GRCh37Chr 17, 41244818: 41244822
643BRCA1NM_007294.3(BRCA1): c.2726delA (p.Asn909Ilefs)deletionPathogenicrs80357614GRCh37Chr 17, 41244822: 41244822
644BRCA1NM_007294.3(BRCA1): c.2726dupA (p.Asn909Lysfs)duplicationPathogenicrs80357685GRCh37Chr 17, 41244822: 41244822
645BRCA1NM_007294.3(BRCA1): c.2727_2730delTCAA (p.Asn909Lysfs)deletionPathogenicrs80357605GRCh37Chr 17, 41244818: 41244821
646BRCA1NM_007294.3(BRCA1): c.2740G> T (p.Glu914Ter)single nucleotide variantPathogenicrs80357419GRCh37Chr 17, 41244808: 41244808
647BRCA1NM_007294.3(BRCA1): c.2744_2745delCT (p.Ser915Terfs)deletionPathogenicrs80357540GRCh37Chr 17, 41244803: 41244804
648BRCA1NM_007294.3(BRCA1): c.2749dupA (p.Ile917Asnfs)duplicationPathogenicrs80357942GRCh37Chr 17, 41244799: 41244799
649BRCA1NM_007294.3(BRCA1): c.2761C> T (p.Gln921Ter)single nucleotide variantPathogenicrs80357377GRCh37Chr 17, 41244787: 41244787
650BRCA1NM_007294.3(BRCA1): c.2762delA (p.Gln921Argfs)deletionPathogenicrs80357703GRCh37Chr 17, 41244786: 41244786
651BRCA1NM_007294.3(BRCA1): c.2764_2767delACAG (p.Thr922Leufs)deletionPathogenicrs80357822GRCh37Chr 17, 41244781: 41244784
652BRCA1NM_007294.3(BRCA1): c.2766delA (p.Val923Leufs)deletionPathogenicrs80357812GRCh37Chr 17, 41244782: 41244782
653BRCA1NM_007294.3(BRCA1): c.2767_2770delGTTA (p.Val923Ilefs)deletionPathogenicrs80357661GRCh37Chr 17, 41244778: 41244781
654BRCA1NM_007294.3(BRCA1): c.2796_2799delTGGT (p.Gly933Argfs)deletionPathogenicrs80357840GRCh37Chr 17, 41244749: 41244752
655BRCA1NM_007294.3(BRCA1): c.2800C> T (p.Gln934Ter)single nucleotide variantPathogenicrs80357223GRCh37Chr 17, 41244748: 41244748
656BRCA1NM_007294.3(BRCA1): c.2805delA (p.Asp936Ilefs)deletionPathogenicrs397509012GRCh37Chr 17, 41244743: 41244743
657BRCA1NM_007294.3(BRCA1): c.2812_2813delCCinsG (p.Pro938Glufs)indelPathogenicrs273899689GRCh37Chr 17, 41244735: 41244736
658BRCA1NM_007294.3(BRCA1): c.2832T> A (p.Cys944Ter)single nucleotide variantPathogenicrs80357458GRCh37Chr 17, 41244716: 41244716
659BRCA1NM_007294.3(BRCA1): c.2834_2836delGTAinsC (p.Ser945Thrfs)indelPathogenicrs386134270GRCh37Chr 17, 41244712: 41244714
660BRCA1NM_007294.3(BRCA1): c.2835dupT (p.Ile946Tyrfs)duplicationPathogenicrs80357519GRCh37Chr 17, 41244713: 41244713
661BRCA1NM_007294.3(BRCA1): c.2840_2841delAA (p.Lys947Argfs)deletionPathogenicrs80357984GRCh37Chr 17, 41244707: 41244708
662BRCA1NM_007294.3(BRCA1): c.2864C> A (p.Ser955Ter)single nucleotide variantPathogenicrs80357295GRCh37Chr 17, 41244684: 41244684
663BRCA1NM_007294.3(BRCA1): c.2866_2870delTCTCA (p.Ser956Valfs)deletionPathogenicrs80357819GRCh37Chr 17, 41244678: 41244682
664BRCA1NM_007294.3(BRCA1): c.2869C> T (p.Gln957Ter)single nucleotide variantPathogenicrs80356973GRCh37Chr 17, 41244679: 41244679
665BRCA1NM_007294.3(BRCA1): c.2887delA (p.Thr963Leufs)deletionPathogenicrs80357559GRCh37Chr 17, 41244661: 41244661
666BRCA1NM_007294.3(BRCA1): c.290_291delCA (p.Thr97Argfs)deletionPathogenicrs80357738GRCh37Chr 17, 41256895: 41256896
667BRCA1NM_007294.3(BRCA1): c.2910delA (p.Lys970Asnfs)deletionPathogenicrs80357893GRCh37Chr 17, 41244638: 41244638
668BRCA1NM_007294.3(BRCA1): c.2915delG (p.Gly972Aspfs)deletionPathogenicrs80357573GRCh37Chr 17, 41244633: 41244633
669BRCA1NM_007294.3(BRCA1): c.2920_2921delTT (p.Leu974Thrfs)deletionPathogenicrs80357611GRCh37Chr 17, 41244627: 41244628
670BRCA1NM_007294.3(BRCA1): c.2921T> A (p.Leu974Ter)single nucleotide variantPathogenicrs80356872GRCh37Chr 17, 41244627: 41244627
671BRCA1NM_007294.3(BRCA1): c.2923C> T (p.Gln975Ter)single nucleotide variantPathogenicrs80357497GRCh37Chr 17, 41244625: 41244625
672BRCA1NM_007294.3(BRCA1): c.2934delT (p.Arg979Valfs)deletionPathogenicrs80357741GRCh37Chr 17, 41244614: 41244614
673BRCA1NM_007294.3(BRCA1): c.2952delT (p.Ile986Serfs)deletionPathogenicrs80357627GRCh37Chr 17, 41244596: 41244596
674BRCA1NM_007294.3(BRCA1): c.2955delC (p.Ile986Serfs)deletionPathogenicrs397509027GRCh37Chr 17, 41244593: 41244593
675BRCA1NM_007294.3(BRCA1): c.2963C> A (p.Ser988Ter)single nucleotide variantPathogenicrs397507206GRCh37Chr 17, 41244585: 41244585
676BRCA1NM_007294.3(BRCA1): c.2980delT (p.Cys994Valfs)deletionPathogenicrs80357502GRCh37Chr 17, 41244568: 41244568
677BRCA1NM_007294.3(BRCA1): c.2989_2990dupAA (p.Asn997Lysfs)duplicationPathogenicrs80357829GRCh37Chr 17, 41244558: 41244559
678BRCA1NM_007294.3(BRCA1): c.2999delA (p.Glu1000Glyfs)deletionPathogenicrs80357991GRCh37Chr 17, 41244549: 41244549
679BRCA1NM_007294.3(BRCA1): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs80357111GRCh37Chr 17, 41276112: 41276112
680BRCA1NM_007294.3(BRCA1): c.2T> G (p.Met1Arg)single nucleotide variantPathogenicrs80357111GRCh37Chr 17, 41276112: 41276112
681BRCA1NM_007294.3(BRCA1): c.3008_3009delTT (p.Phe1003Terfs)deletionPathogenicrs80357617GRCh37Chr 17, 41244539: 41244540
682BRCA1NM_007294.3(BRCA1): c.3013delG (p.Glu1005Asnfs)deletionPathogenicrs80357937GRCh37Chr 17, 41244535: 41244535
683BRCA1NM_007294.3(BRCA1): c.3018_3021delTTCA (p.His1006Glnfs)deletionPathogenicrs80357749GRCh37Chr 17, 41244527: 41244530
684BRCA1NM_007294.3(BRCA1): c.302-1G> Asingle nucleotide variantPathogenicrs80358116GRCh37Chr 17, 41256279: 41256279
685BRCA1NM_007294.3(BRCA1): c.302-1G> Csingle nucleotide variantPathogenicrs80358116GRCh37Chr 17, 41256279: 41256279
686BRCA1NM_007294.3(BRCA1): c.302-2delAdeletionPathogenicrs273899695GRCh37Chr 17, 41256280: 41256280
687BRCA1NM_007294.3(BRCA1): c.3020C> G (p.Ser1007Ter)single nucleotide variantPathogenicrs80357168GRCh37Chr 17, 41244528: 41244528
688BRCA1NM_007294.3(BRCA1): c.3026C> A (p.Ser1009Ter)single nucleotide variantPathogenicrs273899696GRCh37Chr 17, 41244522: 41244522
689BRCA1NM_007294.3(BRCA1): c.3029_3030delCT (p.Pro1010Argfs)deletionPathogenicrs80357510GRCh37Chr 17, 41244518: 41244519
690BRCA1NM_007294.3(BRCA1): c.303T> G (p.Tyr101Ter)single nucleotide variantPathogenicrs80356936GRCh37Chr 17, 41256277: 41256277
691BRCA1NM_007294.3(BRCA1): c.3048_3052dupTGAGA (p.Asn1018Metfs)duplicationPathogenicrs80357856GRCh37Chr 17, 41244496: 41244500
692BRCA1NM_007294.3(BRCA1): c.3049G> T (p.Glu1017Ter)single nucleotide variantPathogenicrs80357004GRCh37Chr 17, 41244499: 41244499
693BRCA1NM_007294.3(BRCA1): c.3084_3094delTAATAACATTA (p.Asn1029Argfs)deletionPathogenicrs80357647GRCh37Chr 17, 41244454: 41244464
694BRCA1NM_007294.3(BRCA1): c.3097G> T (p.Glu1033Ter)single nucleotide variantPathogenicrs273899698GRCh37Chr 17, 41244451: 41244451
695BRCA1NM_007294.3(BRCA1): c.3107_3112delTTAAAG (p.Phe1036_Cys1372delinsTer)deletionPathogenicrs80357920GRCh37Chr 17, 41244436: 41244441
696BRCA1NM_007294.3(BRCA1): c.3108delT (p.Phe1036Leufs)deletionPathogenicrs80357841GRCh37Chr 17, 41244440: 41244440
697BRCA1NM_007294.3(BRCA1): c.3108dupT (p.Lys1037Terfs)duplicationPathogenicrs273899699GRCh37Chr 17, 41244440: 41244440
698BRCA1NM_007294.3(BRCA1): c.3155delA (p.Asn1052Metfs)deletionPathogenicrs397509040GRCh37Chr 17, 41244393: 41244393
699BRCA1NM_007294.3(BRCA1): c.3178G> T (p.Glu1060Ter)single nucleotide variantPathogenicrs80357424GRCh37Chr 17, 41244370: 41244370
700BRCA1NM_007294.3(BRCA1): c.317delA (p.Asn106Ilefs)deletionPathogenicrs80357950GRCh37Chr 17, 41256263: 41256263
701BRCA1NM_007294.3(BRCA1): c.3181delA (p.Ile1061Terfs)deletionPathogenicrs80357702GRCh37Chr 17, 41244367: 41244367
702BRCA1NM_007294.3(BRCA1): c.3188_3189delCCinsG (p.Ser1063Terfs)indelPathogenicrs273899701GRCh37Chr 17, 41244359: 41244360
703BRCA1NM_007294.3(BRCA1): c.3193dupG (p.Asp1065Glyfs)duplicationPathogenicrs80357511GRCh37Chr 17, 41244355: 41244355
704BRCA1NM_007294.3(BRCA1): c.321delT (p.Phe107Leufs)deletionPathogenicrs80357544GRCh37Chr 17, 41256259: 41256259
705BRCA1NM_007294.3(BRCA1): c.3226delA (p.Arg1076Glufs)deletionPathogenicrs273899703GRCh37Chr 17, 41244322: 41244322
706BRCA1NM_007294.3(BRCA1): c.3239T> A (p.Leu1080Ter)single nucleotide variantPathogenicrs80357145GRCh37Chr 17, 41244309: 41244309
707BRCA1NM_007294.3(BRCA1): c.3253dupA (p.Arg1085Lysfs)duplicationPathogenicrs80357517GRCh37Chr 17, 41244295: 41244295
708BRCA1NM_007294.3(BRCA1): c.3254_3255dupGA (p.Leu1086Aspfs)duplicationPathogenicrs80357624GRCh37Chr 17, 41244293: 41244294
709BRCA1NM_007294.3(BRCA1): c.3255dupA (p.Leu1086Ilefs)duplicationPathogenicrs80357624GRCh37Chr 17, 41244293: 41244293
710BRCA1NM_007294.3(BRCA1): c.3257T> A (p.Leu1086Ter)single nucleotide variantPathogenicrs80357006GRCh37Chr 17, 41244291: 41244291
711BRCA1NM_007294.3(BRCA1): c.3257T> G (p.Leu1086Ter)single nucleotide variantPathogenicrs80357006GRCh37Chr 17, 41244291: 41244291
712BRCA1NM_007294.3(BRCA1): c.3257dupT (p.Leu1086Phefs)duplicationPathogenicrs80357858GRCh37Chr 17, 41244291: 41244291
713BRCA1NM_007294.3(BRCA1): c.3262delG (p.Val1088Phefs)deletionPathogenicrs397509049GRCh37Chr 17, 41244286: 41244286
714BRCA1NM_007294.3(BRCA1): c.3268C> T (p.Gln1090Ter)single nucleotide variantPathogenicrs80357402GRCh37Chr 17, 41244280: 41244280
715BRCA1NM_007294.3(BRCA1): c.3279delC (p.Tyr1094Ilefs)deletionPathogenicrs397509050GRCh37Chr 17, 41244269: 41244269
716BRCA1NM_007294.3(BRCA1): c.3285delA (p.Lys1095Asnfs)deletionLikely pathogenicrs397509051GRCh37Chr 17, 41244263: 41244263
717BRCA1NM_007294.3(BRCA1): c.3286C> T (p.Gln1096Ter)single nucleotide variantPathogenicrs80357485GRCh37Chr 17, 41244262: 41244262
718BRCA1NM_007294.3(BRCA1): c.3286delC (p.Gln1096Lysfs)deletionPathogenicrs80357533GRCh37Chr 17, 41244262: 41244262
719BRCA1NM_007294.3(BRCA1): c.3288_3289delAA (p.Leu1098Serfs)deletionPathogenicrs80357686GRCh37Chr 17, 41244259: 41244260
720BRCA1NM_007294.3(BRCA1): c.3292_3293delCT (p.Leu1098Serfs)deletionPathogenicrs80357992GRCh37Chr 17, 41244255: 41244256
721BRCA1NM_007294.3(BRCA1): c.3296delC (p.Pro1099Leufs)deletionPathogenicrs80357815GRCh37Chr 17, 41244252: 41244252
722BRCA1NM_007294.3(BRCA1): c.329_330delAG (p.Lys110Argfs)deletionPathogenicrs80357754GRCh37Chr 17, 41256250: 41256251
723BRCA1NM_007294.3(BRCA1): c.329dupA (p.Glu111Glyfs)duplicationPathogenicrs80357604GRCh37Chr 17, 41256251: 41256251
724BRCA1NM_007294.3(BRCA1): c.32_33insC (p.Gln12Thrfs)insertionPathogenicrs80357811GRCh37Chr 17, 41276081: 41276082
725BRCA1NM_007294.3(BRCA1): c.3309T> A (p.Cys1103Ter)single nucleotide variantPathogenicrs80357317GRCh37Chr 17, 41244239: 41244239
726BRCA1NM_007294.3(BRCA1): c.3319G> T (p.Glu1107Ter)single nucleotide variantPathogenicrs80357106GRCh37Chr 17, 41244229: 41244229
727BRCA1NM_007294.3(BRCA1): c.3323_3326delTAAA (p.Ile1108Lysfs)deletionPathogenicrs80357763GRCh37Chr 17, 41244222: 41244225
728BRCA1NM_007294.3(BRCA1): c.3325_3329delAAAAA (p.Lys1109Alafs)deletionPathogenicrs80357680GRCh37Chr 17, 41244219: 41244223
729BRCA1NM_007294.3(BRCA1): c.3326_3329delAAAA (p.Lys1109Serfs)deletionPathogenicrs80357575GRCh37Chr 17, 41244219: 41244222
730BRCA1NM_007294.3(BRCA1): c.3329_3330delAG (p.Lys1110Thrfs)deletionPathogenicrs80357525GRCh37Chr 17, 41244218: 41244219
731BRCA1NM_007294.3(BRCA1): c.3329dupA (p.Gln1111Alafs)duplicationPathogenicrs80357692GRCh37Chr 17, 41244219: 41244219
732BRCA1NM_007294.3(BRCA1): c.3331C> T (p.Gln1111Ter)single nucleotide variantPathogenicrs80357089GRCh37Chr 17, 41244217: 41244217
733BRCA1NM_007294.3(BRCA1): c.3333delA (p.Glu1112Asnfs)deletionPathogenicrs80357966GRCh37Chr 17, 41244215: 41244215
734BRCA1NM_007294.3(BRCA1): c.3339T> G (p.Tyr1113Ter)single nucleotide variantPathogenicrs80357421GRCh37Chr 17, 41244209: 41244209
735BRCA1NM_007294.3(BRCA1): c.3340G> T (p.Glu1114Ter)single nucleotide variantPathogenicrs80357278GRCh37Chr 17, 41244208: 41244208
736BRCA1NM_007294.3(BRCA1): c.3343delG (p.Glu1115Lysfs)deletionPathogenicrs273899705GRCh37Chr 17, 41244205: 41244205
737BRCA1NM_007294.3(BRCA1): c.3359_3360delTT (p.Val1120Glufs)deletionPathogenicrs80357843GRCh37Chr 17, 41244188: 41244189
738BRCA1NM_007294.3(BRCA1): c.3362delA (p.Asn1121Ilefs)deletionPathogenicrs80357865GRCh37Chr 17, 41244186: 41244186
739BRCA1NM_007294.3(BRCA1): c.3365_3366delCA (p.Thr1122Argfs)deletionPathogenicrs80357892GRCh37Chr 17, 41244182: 41244183
740BRCA1NM_007294.3(BRCA1): c.3375_3376delTC (p.Pro1126Ilefs)deletionPathogenicrs80357828GRCh37Chr 17, 41244172: 41244173
741BRCA1NM_007294.3(BRCA1): c.3390delA (p.Asp1131Ilefs)deletionPathogenicrs80357900GRCh37Chr 17, 41244158: 41244158
742BRCA1NM_007294.3(BRCA1): c.3397_3398delTT (p.Leu1133Argfs)deletionPathogenicrs80357577GRCh37Chr 17, 41244150: 41244151
743BRCA1NM_007294.3(BRCA1): c.3398T> A (p.Leu1133Ter)single nucleotide variantPathogenicrs80356971GRCh37Chr 17, 41244150: 41244150
744BRCA1NM_007294.3(BRCA1): c.3398T> G (p.Leu1133Ter)single nucleotide variantPathogenicrs80356971GRCh37Chr 17, 41244150: 41244150
745BRCA1NM_007294.3(BRCA1): c.3403C> T (p.Gln1135Ter)single nucleotide variantPathogenicrs80357136GRCh37Chr 17, 41244145: 41244145
746BRCA1NM_007294.3(BRCA1): c.3417delT (p.Ser1139Argfs)deletionPathogenicrs273899706GRCh37Chr 17, 41244131: 41244131
747BRCA1NM_007294.3(BRCA1): c.342_343delTC (p.Pro115Terfs)deletionPathogenicrs80357881GRCh37Chr 17, 41256237: 41256238
748BRCA1NM_007294.3(BRCA1): c.3430C> T (p.Gln1144Ter)single nucleotide variantPathogenicrs80357369GRCh37Chr 17, 41244118: 41244118
749BRCA1NM_007294.3(BRCA1): c.3436_3439delTGTT (p.Cys1146Leufs)deletionPathogenicrs397509067GRCh37Chr 17, 41244109: 41244112
750BRCA1NM_007294.3(BRCA1): c.3477_3479delAAAinsC (p.Lys1160Glyfs)indelPathogenicrs273899707GRCh37Chr 17, 41244069: 41244071
751BRCA1NM_007294.3(BRCA1): c.3477_3480delAAAG (p.Ile1159Metfs)deletionPathogenicrs80357781GRCh37Chr 17, 41244068: 41244071
752BRCA1NM_007294.3(BRCA1): c.34C> T (p.Gln12Ter)single nucleotide variantPathogenicrs80357134GRCh37Chr 17, 41276080: 41276080
753BRCA1NM_007294.3(BRCA1): c.3531delT (p.Phe1177Leufs)deletionPathogenicrs80357621GRCh37Chr 17, 41244017: 41244017
754BRCA1NM_007294.3(BRCA1): c.3544C> T (p.Gln1182Ter)single nucleotide variantPathogenicrs80357296GRCh37Chr 17, 41244004: 41244004
755BRCA1NM_007294.3(BRCA1): c.3549_3550delAGinsT (p.Lys1183Asnfs)indelPathogenicrs273899709GRCh37Chr 17, 41243998: 41243999
756BRCA1NM_007294.3(BRCA1): c.3569_3570delCT (p.Pro1190Glnfs)deletionPathogenicrs80357845GRCh37Chr 17, 41243978: 41243979
757BRCA1NM_007294.3(BRCA1): c.3580delA (p.Thr1194Profs)deletionPathogenicrs80357663GRCh37Chr 17, 41243968: 41243968
758BRCA1NM_007294.3(BRCA1): c.3583delC (p.His1195Ilefs)deletionPathogenicrs273900710GRCh37Chr 17, 41243965: 41243965
759BRCA1NM_007294.3(BRCA1): c.3586dupA (p.Thr1196Asnfs)duplicationPathogenicrs80357531GRCh37Chr 17, 41243962: 41243962
760BRCA1NM_007294.3(BRCA1): c.3598C> T (p.Gln1200Ter)single nucleotide variantPathogenicrs62625307GRCh37Chr 17, 41243950: 41243950
761BRCA1NM_007294.3(BRCA1): c.3619A> T (p.Lys1207Ter)single nucleotide variantPathogenicrs80357455GRCh37Chr 17, 41243929: 41243929
762BRCA1NM_007294.3(BRCA1): c.3624dupA (p.Leu1209Ilefs)duplicationPathogenicrs80357512GRCh37Chr 17, 41243924: 41243924
763BRCA1NM_007294.3(BRCA1): c.3626delT (p.Leu1209Terfs)deletionPathogenicrs80357571GRCh37Chr 17, 41243922: 41243922
764BRCA1NM_007294.3(BRCA1): c.3629_3630delAG (p.Glu1210Valfs)deletionPathogenicrs80357589GRCh37Chr 17, 41243918: 41243919
765BRCA1NM_007294.3(BRCA1): c.3640G> T (p.Glu1214Ter)single nucleotide variantLikely pathogenic, Pathogenicrs80356923GRCh37Chr 17, 41243908: 41243908
766BRCA1NM_007294.3(BRCA1): c.3642_3643delGA (p.Asn1215Leufs)deletionPathogenicrs80357805GRCh37Chr 17, 41243905: 41243906
767BRCA1NM_007294.3(BRCA1): c.3661G> T (p.Glu1221Ter)single nucleotide variantPathogenicrs80357310GRCh37Chr 17, 41243887: 41243887
768BRCA1NM_007294.3(BRCA1): c.3664G> T (p.Glu1222Ter)single nucleotide variantPathogenicrs80357356GRCh37Chr 17, 41243884: 41243884
769BRCA1NM_007294.3(BRCA1): c.3668_3671dupTTCC (p.Cys1225Serfs)duplicationPathogenicrs80357797GRCh37Chr 17, 41243877: 41243880
770BRCA1NM_007294.3(BRCA1): c.3676_3679delTTCC (p.Phe1226Asnfs)deletionPathogenicrs80357671GRCh37Chr 17, 41243869: 41243872
771BRCA1NM_007294.3(BRCA1): c.3699delA (p.Val1234Terfs)deletionPathogenicrs80357873GRCh37Chr 17, 41243849: 41243849
772BRCA1NM_007294.3(BRCA1): c.3706_3707delAA (p.Asn1236Tyrfs)deletionPathogenicrs80357666GRCh37Chr 17, 41243841: 41243842
773BRCA1NM_007294.3(BRCA1): c.3706_3713delAATATACC (p.Asn1236Phefs)deletionPathogenicrs80357552GRCh37Chr 17, 41243835: 41243842
774BRCA1NM_007294.3(BRCA1): c.3710delT (p.Ile1237Asnfs)deletionPathogenicrs80357564GRCh37Chr 17, 41243838: 41243838
775BRCA1NM_007294.3(BRCA1): c.3715_3717delTCTinsC (p.Ser1239Profs)indelPathogenicrs273900714GRCh37Chr 17, 41243831: 41243833
776BRCA1NM_007294.3(BRCA1): c.3718C> T (p.Gln1240Ter)single nucleotide variantPathogenicrs80356903GRCh37Chr 17, 41243830: 41243830
777BRCA1NM_007294.3(BRCA1): c.3722_3740del19 (p.Ser1241Leufs)deletionPathogenicrs80359882GRCh37Chr 17, 41243808: 41243826
778BRCA1NM_007294.3(BRCA1): c.3736delA (p.Thr1246Profs)deletionPathogenicrs80357578GRCh37Chr 17, 41243812: 41243812
779BRCA1NM_007294.3(BRCA1): c.3759dupT (p.Lys1254Terfs)duplicationPathogenicrs80357687GRCh37Chr 17, 41243789: 41243789
780BRCA1NM_007294.3(BRCA1): c.3760_3761insT (p.Lys1254Ilefs)insertionPathogenicrs80357986GRCh37Chr 17, 41243787: 41243788
781BRCA1NM_007294.3(BRCA1): c.3762_3763delGA (p.Asn1255Hisfs)deletionPathogenicrs80357645GRCh37Chr 17, 41243785: 41243786
782BRCA1NM_007294.3(BRCA1): c.3779delT (p.Leu1260Tyrfs)deletionPathogenicrs80357798GRCh37Chr 17, 41243769: 41243769
783BRCA1NM_007294.3(BRCA1): c.3782delT (p.Leu1261Tyrfs)deletionPathogenicrs80357545GRCh37Chr 17, 41243766: 41243766
784BRCA1NM_007294.3(BRCA1): c.3785C> A (p.Ser1262Ter)single nucleotide variantPathogenicrs80357269GRCh37Chr 17, 41243763: 41243763
785BRCA1NM_007294.3(BRCA1): c.3794delA (p.Asn1265Ilefs)deletionPathogenicrs80357767GRCh37Chr 17, 41243754: 41243754
786BRCA1NM_007294.3(BRCA1): c.37_40delAATG (p.Asn13Serfs)deletionPathogenicrs80357530GRCh37Chr 17, 41276074: 41276077
787BRCA1NM_007294.3(BRCA1): c.3817C> T (p.Gln1273Ter)single nucleotide variantPathogenicrs80357208GRCh37Chr 17, 41243731: 41243731
788BRCA1NM_007294.3(BRCA1): c.3820dupG (p.Val1274Glyfs)duplicationPathogenicrs80357616GRCh37Chr 17, 41243728: 41243728
789BRCA1NM_007294.3(BRCA1): c.3839_3843delCTCAGinsAGGC (p.Ser1280Terfs)indelPathogenicrs273900717GRCh37Chr 17, 41243705: 41243709
790BRCA1NM_007294.3(BRCA1): c.3841C> T (p.Gln1281Ter)single nucleotide variantPathogenicrs80356866GRCh37Chr 17, 41243707: 41243707
791BRCA1NM_007294.3(BRCA1): c.3841_3842delCA (p.Gln1281Glyfs)deletionPathogenicrs80357584GRCh37Chr 17, 41243706: 41243707
792BRCA1NM_007294.3(BRCA1): c.3856delA (p.Ser1286Valfs)deletionPathogenicrs80357855GRCh37Chr 17, 41243692: 41243692
793BRCA1NM_007294.3(BRCA1): c.3862delG (p.Glu1288Lysfs)deletionPathogenicrs273900718GRCh37Chr 17, 41243686: 41243686
794BRCA1NM_007294.3(BRCA1): c.3869_3870delAA (p.Lys1290Metfs)deletionPathogenicrs80357918GRCh37Chr 17, 41243678: 41243679
795BRCA1NM_007294.3(BRCA1): c.3893C> A (p.Ser1298Ter)single nucleotide variantPathogenicrs80357440GRCh37Chr 17, 41243655: 41243655
796BRCA1NM_007294.3(BRCA1): c.3895C> T (p.Gln1299Ter)single nucleotide variantPathogenicrs80357038GRCh37Chr 17, 41243653: 41243653
797BRCA1NM_007294.3(BRCA1): c.3901_3902delAG (p.Ser1301Terfs)deletionPathogenicrs80357646GRCh37Chr 17, 41243646: 41243647
798BRCA1NM_007294.3(BRCA1): c.3904G> T (p.Glu1302Ter)single nucleotide variantPathogenicrs80357461GRCh37Chr 17, 41243644: 41243644
799BRCA1NM_007294.3(BRCA1): c.390C> A (p.Tyr130Ter)single nucleotide variantPathogenicrs80356888GRCh37Chr 17, 41256190: 41256190
800BRCA1NM_007294.3(BRCA1): c.3916_3917delTT (p.Leu1306Aspfs)deletionPathogenicrs80357678GRCh37Chr 17, 41243631: 41243632
801BRCA1NM_007294.3(BRCA1): c.391A> T (p.Arg131Ter)single nucleotide variantPathogenicrs80357207GRCh37Chr 17, 41256189: 41256189
802BRCA1NM_007294.3(BRCA1): c.3931_3934delAACA (p.Asn1311Profs)deletionPathogenicrs80357864GRCh37Chr 17, 41243614: 41243617
803BRCA1NM_007294.3(BRCA1): c.3932delA (p.Asn1311Thrfs)deletionPathogenicrs80357504GRCh37Chr 17, 41243616: 41243616
804BRCA1NM_007294.3(BRCA1): c.3964A> T (p.Lys1322Ter)single nucleotide variantPathogenicrs80357343GRCh37Chr 17, 41243584: 41243584
805BRCA1NM_007294.3(BRCA1): c.3966delA (p.Lys1322Asnfs)deletionPathogenicrs80357979GRCh37Chr 17, 41243582: 41243582
806BRCA1NM_007294.3(BRCA1): c.3967C> T (p.Gln1323Ter)single nucleotide variantPathogenicrs80357262GRCh37Chr 17, 41243581: 41243581
807BRCA1NM_007294.3(BRCA1): c.3972delG (p.Met1324Ilefs)deletionPathogenicrs80357987GRCh37Chr 17, 41243576: 41243576
808BRCA1NM_007294.3(BRCA1): c.3973delA (p.Arg1325Glyfs)deletionPathogenicrs80357904GRCh37Chr 17, 41243575: 41243575
809BRCA1NM_007294.3(BRCA1): c.399_400delTG (p.Ala134Glnfs)deletionPathogenicrs80357568GRCh37Chr 17, 41256180: 41256181
810BRCA1NM_007294.3(BRCA1): c.3G> T (p.Met1Ile)single nucleotide variantPathogenicrs80357475GRCh37Chr 17, 41276111: 41276111
811BRCA1NM_007294.3(BRCA1): c.4037_4038delAA (p.Gly1348Asnfs)deletionPathogenicrs273900721GRCh37Chr 17, 41243510: 41243511
812BRCA1NM_007294.3(BRCA1): c.4041_4042delAG (p.Gly1348Asnfs)deletionLikely pathogenic, Pathogenicrs80357727GRCh37Chr 17, 41243506: 41243507
813BRCA1NM_007294.3(BRCA1): c.4052T> A (p.Leu1351Ter)single nucleotide variantPathogenicrs397509132GRCh37Chr 17, 41243496: 41243496
814BRCA1NM_007294.3(BRCA1): c.4052dupT (p.Leu1351Phefs)duplicationPathogenicrs80357779GRCh37Chr 17, 41243496: 41243496
815BRCA1NM_007294.3(BRCA1): c.4057G> T (p.Glu1353Ter)single nucleotide variantPathogenicrs80357178GRCh37Chr 17, 41243491: 41243491
816BRCA1NM_007294.3(BRCA1): c.406dupA (p.Arg136Lysfs)duplicationPathogenicrs80357709GRCh37Chr 17, 41256174: 41256174
817BRCA1NM_007294.3(BRCA1): c.4075C> T (p.Gln1359Ter)single nucleotide variantPathogenicrs80357456GRCh37Chr 17, 41243473: 41243473
818BRCA1NM_007294.3(BRCA1): c.4085delA (p.Asp1362Valfs)deletionPathogenicrs80357737GRCh37Chr 17, 41243463: 41243463
819BRCA1NM_007294.3(BRCA1): c.4097-2A> Gsingle nucleotide variantPathogenicrs80358019GRCh37Chr 17, 41243051: 41243051
820BRCA1NM_007294.3(BRCA1): c.4122_4123delTG (p.Ser1374Argfs)deletionPathogenicrs80357691GRCh37Chr 17, 41243023: 41243024
821BRCA1NM_007294.3(BRCA1): c.4123G> T (p.Glu1375Ter)single nucleotide variantPathogenicrs80357397GRCh37Chr 17, 41243023: 41243023
822BRCA1NM_007294.3(BRCA1): c.412_418delCTACAGA (p.Leu138Valfs)deletionPathogenicrs80357816GRCh37Chr 17, 41256162: 41256168
823BRCA1NM_007294.3(BRCA1): c.4136_4137delCT (p.Ser1379Terfs)deletionPathogenicrs397509141GRCh37Chr 17, 41243009: 41243010
824BRCA1NM_007294.3(BRCA1): c.415C> T (p.Gln139Ter)single nucleotide variantPathogenicrs80357372GRCh37Chr 17, 41256165: 41256165
825BRCA1NM_007294.3(BRCA1): c.4161_4162delTC (p.Gln1388Glufs)deletionPathogenicrs80357565GRCh37Chr 17, 41242984: 41242985
826BRCA1NM_007294.3(BRCA1): c.4163_4166delAGAG (p.Gln1388Leufs)deletionPathogenicrs80357532GRCh37Chr 17, 41242980: 41242983
827BRCA1NM_007294.3(BRCA1): c.4165_4166delAG (p.Ser1389Terfs)deletionPathogenicrs80357572GRCh37Chr 17, 41242980: 41242981
828BRCA1NM_007294.3(BRCA1): c.4167_4170delTGAC (p.Ser1389Argfs)deletionPathogenicrs80357538GRCh37Chr 17, 41242976: 41242979
829BRCA1NM_007294.3(BRCA1): c.4182_4183dupTC (p.Gln1395Leufs)duplicationPathogenicrs80357742GRCh37Chr 17, 41242963: 41242964
830BRCA1NM_007294.3(BRCA1): c.4183C> T (p.Gln1395Ter)single nucleotide variantPathogenicrs80357260GRCh37Chr 17, 41242963: 41242963
831BRCA1NM_007294.3(BRCA1): c.4185+1G> Tsingle nucleotide variantPathogenicrs80358076GRCh37Chr 17, 41242960: 41242960
832BRCA1NM_007294.3(BRCA1): c.4185G> A (p.Gln1395=)single nucleotide variantPathogenicrs80356857GRCh37Chr 17, 41242961: 41242961
833BRCA1NM_007294.3(BRCA1): c.4186C> T (p.Gln1396Ter)single nucleotide variantPathogenicrs80357011GRCh37Chr 17, 41234592: 41234592
834BRCA1NM_007294.3(BRCA1): c.4195_4196delAC (p.Thr1399Hisfs)deletionPathogenicrs80357649GRCh37Chr 17, 41234582: 41234583
835BRCA1NM_007294.3(BRCA1): c.4201C> T (p.Gln1401Ter)single nucleotide variantPathogenicrs397509151GRCh37Chr 17, 41234577: 41234577
836BRCA1NM_007294.3(BRCA1): c.4210delC (p.Leu1404Terfs)deletionPathogenicrs80357765GRCh37Chr 17, 41234568: 41234568
837BRCA1NM_007294.3(BRCA1): c.4222C> T (p.Gln1408Ter)single nucleotide variantPathogenicrs80356989GRCh37Chr 17, 41234556: 41234556
838BRCA1NM_007294.3(BRCA1): c.4258C> T (p.Gln1420Ter)single nucleotide variantPathogenicrs80357305GRCh37Chr 17, 41234520: 41234520
839BRCA1NM_007294.3(BRCA1): c.4266dupG (p.Ser1423Glufs)duplicationPathogenicrs397509158GRCh37Chr 17, 41234512: 41234512
840BRCA1NM_007294.3(BRCA1): c.4300dupA (p.Ser1434Lysfs)duplicationPathogenicrs80357790GRCh37Chr 17, 41234478: 41234478
841BRCA1NM_007294.3(BRCA1): c.4321dupG (p.Asp1441Glyfs)duplicationPathogenicrs80357748GRCh37Chr 17, 41234457: 41234457
842BRCA1NM_007294.3(BRCA1): c.4331_4338delATCCAGAA (p.Asn1444Thrfs)deletionPathogenicrs80357825GRCh37Chr 17, 41234440: 41234447
843BRCA1NM_007294.3(BRCA1): c.4339C> T (p.Gln1447Ter)single nucleotide variantPathogenicrs80357067GRCh37Chr 17, 41234439: 41234439
844BRCA1NM_007294.3(BRCA1): c.4357+1G> Csingle nucleotide variantLikely pathogenic, Pathogenicrs80358027GRCh37Chr 17, 41234420: 41234420
845BRCA1NM_007294.3(BRCA1): c.4357+1G> Tsingle nucleotide variantPathogenicrs80358027GRCh37Chr 17, 41234420: 41234420
846BRCA1NM_007294.3(BRCA1): c.4357+2T> Csingle nucleotide variantPathogenicrs80358152GRCh37Chr 17, 41234419: 41234419
847BRCA1NM_007294.3(BRCA1): c.4370C> G (p.Ser1457Ter)single nucleotide variantPathogenicrs80357130GRCh37Chr 17, 41228619: 41228619
848BRCA1NM_007294.3(BRCA1): c.4372C> T (p.Gln1458Ter)single nucleotide variantPathogenicrs80356932GRCh37Chr 17, 41228617: 41228617
849BRCA1NM_007294.3(BRCA1): c.4373_4389del17 (p.Gln1458Profs)deletionPathogenicrs80359885GRCh37Chr 17, 41228600: 41228616
850BRCA1NM_007294.3(BRCA1): c.4389C> A (p.Tyr1463Ter)single nucleotide variantPathogenicrs80356997GRCh37Chr 17, 41228600: 41228600
851BRCA1NM_007294.3(BRCA1): c.4391_4403delCTATAAGCCAGAAinsTT (p.Pro1464Leufs)indelPathogenicrs273900731GRCh37Chr 17, 41228586: 41228598
852BRCA1NM_007294.3(BRCA1): c.4480G> T (p.Glu1494Ter)single nucleotide variantPathogenicrs80357148GRCh37Chr 17, 41228509: 41228509
853BRCA1NM_007294.3(BRCA1): c.4485-1G> Asingle nucleotide variantPathogenicrs80358189GRCh37Chr 17, 41226539: 41226539
854BRCA1NM_007294.3(BRCA1): c.4485-2A> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs80358054GRCh37Chr 17, 41226540: 41226540
855BRCA1NM_007294.3(BRCA1): c.4487C> A (p.Ser1496Ter)single nucleotide variantPathogenicrs80356953GRCh37Chr 17, 41226536: 41226536
856BRCA1NM_007294.3(BRCA1): c.4487C> G (p.Ser1496Ter)single nucleotide variantPathogenicrs80356953GRCh37Chr 17, 41226536: 41226536
857BRCA1NM_007294.3(BRCA1): c.4508C> A (p.Ser1503Ter)single nucleotide variantPathogenicrs80357437GRCh37Chr 17, 41226515: 41226515
858BRCA1NM_007294.3(BRCA1): c.4516delG (p.Asp1506Ilefs)deletionPathogenicrs273900736GRCh37Chr 17, 41226507: 41226507
859BRCA1NM_007294.3(BRCA1): c.4524G> A (p.Trp1508Ter)single nucleotide variantPathogenicrs80356885GRCh37Chr 17, 41226499: 41226499
860BRCA1NM_007294.3(BRCA1): c.4533_4534delCA (p.His1511Glnfs)deletionPathogenicrs80357534GRCh37Chr 17, 41226489: 41226490
861BRCA1NM_007294.3(BRCA1): c.4552C> T (p.Gln1518Ter)single nucleotide variantPathogenicrs80356881GRCh37Chr 17, 41226471: 41226471
862BRCA1NM_007294.3(BRCA1): c.4574_4575delAA (p.Gln1525Argfs)deletionPathogenicrs80357813GRCh37Chr 17, 41226448: 41226449
863BRCA1NM_007294.3(BRCA1): c.4595_4596insCT (p.Asp1533Leufs)insertionPathogenicrs80357699GRCh37Chr 17, 41226427: 41226428
864BRCA1NM_007294.3(BRCA1): c.4603G> T (p.Glu1535Ter)single nucleotide variantPathogenicrs80357366GRCh37Chr 17, 41226420: 41226420
865BRCA1NM_007294.3(BRCA1): c.4609C> T (p.Gln1537Ter)single nucleotide variantPathogenicrs80357229GRCh37Chr 17, 41226414: 41226414
866BRCA1NM_007294.3(BRCA1): c.4611_4612insG (p.Gln1538Alafs)insertionPathogenicrs80357915GRCh37Chr 17, 41226411: 41226412
867BRCA1NM_007294.3(BRCA1): c.4612C> T (p.Gln1538Ter)single nucleotide variantPathogenicrs80356992GRCh37Chr 17, 41226411: 41226411
868BRCA1NM_007294.3(BRCA1): c.4618G> T (p.Glu1540Ter)single nucleotide variantPathogenicrs80357277GRCh37Chr 17, 41226405: 41226405
869BRCA1NM_007294.3(BRCA1): c.4621G> T (p.Glu1541Ter)single nucleotide variantPathogenicrs80357248GRCh37Chr 17, 41226402: 41226402
870BRCA1NM_007294.3(BRCA1): c.4625_4626delCT (p.Ser1542Trpfs)deletionPathogenicrs80357542GRCh37Chr 17, 41226397: 41226398
871BRCA1NM_007294.3(BRCA1): c.4655_4658delACTT (p.Tyr1552Cysfs)deletionPathogenicrs80357561GRCh37Chr 17, 41226365: 41226368
872BRCA1NM_007294.3(BRCA1): c.4675+1G> Asingle nucleotide variantPathogenicrs80358044GRCh37Chr 17, 41226347: 41226347
873BRCA1NM_007294.3(BRCA1): c.4678G> T (p.Gly1560Ter)single nucleotide variantPathogenicrs80357349GRCh37Chr 17, 41223253: 41223253
874BRCA1NM_007294.3(BRCA1): c.4712_4716delTCTCT (p.Phe1571Terfs)deletionPathogenicrs80357718GRCh37Chr 17, 41223215: 41223219
875BRCA1NM_007294.3(BRCA1): c.4745delA (p.Asp1582Alafs)deletionPathogenicrs80357907GRCh37Chr 17, 41223186: 41223186
876BRCA1NM_007294.3(BRCA1): c.4754_4755delCA (p.Pro1585Argfs)deletionPathogenicrs80357837GRCh37Chr 17, 41223176: 41223177
877BRCA1NM_007294.3(BRCA1): c.4760C> G (p.Ser1587Ter)single nucleotide variantPathogenicrs397509195GRCh37Chr 17, 41223171: 41223171
878BRCA1NM_007294.3(BRCA1): c.4801A> T (p.Lys1601Ter)single nucleotide variantPathogenicrs80357303GRCh37Chr 17, 41223130: 41223130
879BRCA1NM_007294.3(BRCA1): c.4810C> T (p.Gln1604Ter)single nucleotide variantPathogenicrs80357352GRCh37Chr 17, 41223121: 41223121
880BRCA1NM_007294.3(BRCA1): c.4837delA (p.Ser1613Valfs)deletionPathogenicrs397509199GRCh37Chr 17, 41223094: 41223094
881BRCA1NM_007294.3(BRCA1): c.485_486delTG (p.Val162Glufs)deletionPathogenicrs80357708GRCh37Chr 17, 41251853: 41251854
882BRCA1NM_007294.3(BRCA1): c.4936delG (p.Val1646Serfs)deletionPathogenicrs80357653GRCh37Chr 17, 41222995: 41222995
883BRCA1NM_007294.3(BRCA1): c.493delC (p.Leu165Terfs)deletionPathogenicrs80357551GRCh37Chr 17, 41251846: 41251846
884BRCA1NM_007294.3(BRCA1): c.4941delC (p.Asn1647Lysfs)deletionPathogenicrs80357905GRCh37Chr 17, 41222990: 41222990
885BRCA1NM_007294.3(BRCA1): c.4945delA (p.Arg1649Glufs)deletionLikely pathogenic, Pathogenicrs80357761GRCh37Chr 17, 41222986: 41222986
886BRCA1NM_007294.3(BRCA1): c.494dupT (p.Arg166Glufs)duplicationPathogenicrs80357762GRCh37Chr 17, 41251845: 41251845
887BRCA1NM_007294.3(BRCA1): c.4981G> T (p.Glu1661Ter)single nucleotide variantPathogenicrs80357401GRCh37Chr 17, 41222950: 41222950
888BRCA1NM_007294.3(BRCA1): c.4986+3G> Csingle nucleotide variantLikely pathogenic, Pathogenicrs80358023GRCh37Chr 17, 41222942: 41222942
889BRCA1NM_007294.3(BRCA1): c.4986+4A> Tsingle nucleotide variantPathogenicrs80358087GRCh37Chr 17, 41222941: 41222941
890BRCA1NM_007294.3(BRCA1): c.4986+6T> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs80358086GRCh37Chr 17, 41222939: 41222939
891BRCA1NM_007294.3(BRCA1): c.4999A> T (p.Lys1667Ter)single nucleotide variantPathogenicrs80357204GRCh37Chr 17, 41219700: 41219700
892BRCA1NM_007294.3(BRCA1): c.5005delG (p.Ala1669Profs)deletionPathogenicrs80357938GRCh37Chr 17, 41219694: 41219694
893BRCA1NM_007294.3(BRCA1): c.5026_5036delTTAACTAATCT (p.Leu1676Asnfs)deletionPathogenicrs80357894GRCh37Chr 17, 41219663: 41219673
894BRCA1NM_007294.3(BRCA1): c.5035delC (p.Leu1679Terfs)deletionPathogenicrs80357896GRCh37Chr 17, 41219664: 41219664
895BRCA1NM_007294.3(BRCA1): c.5040delT (p.Thr1681Leufs)deletionPathogenicrs80357673GRCh37Chr 17, 41219659: 41219659
896BRCA1NM_007294.3(BRCA1): c.5047G> T (p.Glu1683Ter)single nucleotide variantPathogenicrs80356879GRCh37Chr 17, 41219652: 41219652
897BRCA1NM_007294.3(BRCA1): c.5053A> G (p.Thr1685Ala)single nucleotide variantPathogenicrs80356890GRCh37Chr 17, 41219646: 41219646
898BRCA1NM_007294.3(BRCA1): c.5054C> T (p.Thr1685Ile)single nucleotide variantPathogenicrs80357043GRCh37Chr 17, 41219645: 41219645
899BRCA1NM_007294.3(BRCA1): c.505C> T (p.Gln169Ter)single nucleotide variantPathogenicrs80357133GRCh37Chr 17, 41251834: 41251834
900BRCA1NM_007294.3(BRCA1): c.5071dupA (p.Thr1691Asnfs)duplicationPathogenicrs80357672GRCh37Chr 17, 41219628: 41219628
901BRCA1NM_007294.3(BRCA1): c.5074G> T (p.Asp1692Tyr)single nucleotide variantPathogenicrs80187739GRCh37Chr 17, 41219625: 41219625
902BRCA1NM_007294.3(BRCA1): c.5075-1G> Asingle nucleotide variantPathogenicrs1800747GRCh37Chr 17, 41215969: 41215969
903BRCA1NM_007294.3(BRCA1): c.5075-2A> Csingle nucleotide variantPathogenicrs80358066GRCh37Chr 17, 41215970: 41215970
904BRCA1NM_007294.3(BRCA1): c.5075-2A> Tsingle nucleotide variantPathogenicrs80358066GRCh37Chr 17, 41215970: 41215970
905BRCA1NM_007294.3(BRCA1): c.5080G> T (p.Glu1694Ter)single nucleotide variantPathogenicrs80356896GRCh37Chr 17, 41215963: 41215963
906BRCA1NM_007294.3(BRCA1): c.5084_5085delTT (p.Phe1695Cysfs)deletionPathogenicrs80357760GRCh37Chr 17, 41215958: 41215959
907BRCA1NM_007294.3(BRCA1): c.5091_5092delTG (p.Cys1697Terfs)deletionPathogenicrs80357710GRCh37Chr 17, 41215951: 41215952
908BRCA1NM_007294.3(BRCA1): c.5095C> T (p.Arg1699Trp)single nucleotide variantPathogenicrs55770810GRCh37Chr 17, 41215948: 41215948
909BRCA1NM_007294.3(BRCA1): c.5102_5103delTG (p.Leu1701Glnfs)deletionPathogenicrs80357608GRCh37Chr 17, 41215940: 41215941
910BRCA1NM_007294.3(BRCA1): c.5106delA (p.Lys1702Asnfs)deletionPathogenicrs80357553GRCh37Chr 17, 41215937: 41215937
911BRCA1NM_007294.3(BRCA1): c.5109T> G (p.Tyr1703Ter)single nucleotide variantPathogenicrs80356974GRCh37Chr 17, 41215934: 41215934
912BRCA1NM_007294.3(BRCA1): c.5123C> A (p.Ala1708Glu)single nucleotide variantPathogenicrs28897696GRCh37Chr 17, 41215920: 41215920
913BRCA1NM_007294.3(BRCA1): c.5126delG (p.Gly1709Glufs)deletionPathogenicrs80357874GRCh37Chr 17, 41215917: 41215917
914BRCA1NM_007294.3(BRCA1): c.5136G> A (p.Trp1712Ter)single nucleotide variantPathogenicrs80357418GRCh37Chr 17, 41215907: 41215907
915BRCA1NM_007294.3(BRCA1): c.5137delG (p.Val1713Terfs)deletionPathogenicrs80357997GRCh37Chr 17, 41215906: 41215906
916BRCA1NM_007294.3(BRCA1): c.5138T> C (p.Val1713Ala)single nucleotide variantLikely pathogenicrs80357132GRCh37Chr 17, 41215905: 41215905
917BRCA1NM_007294.3(BRCA1): c.5143A> C (p.Ser1715Arg)single nucleotide variantPathogenicrs80357222GRCh37Chr 17, 41215900: 41215900
918BRCA1NM_007294.3(BRCA1): c.514C> T (p.Gln172Ter)single nucleotide variantPathogenicrs80356947GRCh37Chr 17, 41251825: 41251825
919BRCA1NM_007294.3(BRCA1): c.514delC (p.Gln172Asnfs)deletionPathogenicrs80357872GRCh37Chr 17, 41251825: 41251825
920BRCA1NM_007294.3(BRCA1): c.5150delT (p.Phe1717Serfs)deletionLikely pathogenic, Pathogenicrs80357720GRCh37Chr 17, 41215893: 41215893
921BRCA1NM_007294.3(BRCA1): c.5152+1G> Tsingle nucleotide variantPathogenicrs80358094GRCh37Chr 17, 41215890: 41215890
922BRCA1NM_007294.3(BRCA1): c.5152+2dupTduplicationLikely pathogenicrs397509231GRCh37Chr 17, 41215889: 41215889
923BRCA1NM_007294.3(BRCA1): c.5152+3A> Csingle nucleotide variantPathogenicrs80358124GRCh37Chr 17, 41215888: 41215888
924BRCA1NM_007294.3(BRCA1): c.5153-1G> Asingle nucleotide variantPathogenicrs80358137GRCh37Chr 17, 41215391: 41215391
925BRCA1NM_007294.3(BRCA1): c.5153-2delAdeletionPathogenicrs273901746GRCh37Chr 17, 41215392: 41215392
926BRCA1NM_007294.3(BRCA1): c.5153G> A (p.Trp1718Ter)single nucleotide variantPathogenicrs41293461GRCh37Chr 17, 41215390: 41215390
927BRCA1NM_007294.3(BRCA1): c.5154G> A (p.Trp1718Ter)single nucleotide variantPathogenicrs80357239GRCh37Chr 17, 41215389: 41215389
928BRCA1NM_007294.3(BRCA1): c.5155delG (p.Val1719Terfs)deletionPathogenicrs80357743GRCh37Chr 17, 41215388: 41215388
929BRCA1NM_007294.3(BRCA1): c.5156_5157delTG (p.Val1719Aspfs)deletionPathogenicrs80357895GRCh37Chr 17, 41215386: 41215387
930BRCA1NM_007294.3(BRCA1): c.5165C> T (p.Ser1722Phe)single nucleotide variantLikely pathogenic, Pathogenicrs80357104GRCh37Chr 17, 41215378: 41215378
931BRCA1NM_007294.3(BRCA1): c.5173G> T (p.Glu1725Ter)single nucleotide variantPathogenicrs80357291GRCh37Chr 17, 41215370: 41215370
932BRCA1NM_007294.3(BRCA1): c.5177_5178delGA (p.Arg1726Lysfs)deletionPathogenicrs80357730GRCh37Chr 17, 41215365: 41215366
933BRCA1NM_007294.3(BRCA1): c.5193+1G> Csingle nucleotide variantPathogenicrs80358004GRCh37Chr 17, 41215349: 41215349
934BRCA1NM_007294.3(BRCA1): c.5193+2delTdeletionPathogenicrs273901751GRCh37Chr 17, 41215348: 41215348
935BRCA1NM_007294.3(BRCA1): c.5194-12G> Asingle nucleotide variantPathogenicrs80358079GRCh37Chr 17, 41209164: 41209164
936BRCA1NM_007294.3(BRCA1): c.5209A> T (p.Arg1737Ter)single nucleotide variantPathogenicrs80357496GRCh37Chr 17, 41209137: 41209137
937BRCA1NM_007294.3(BRCA1): c.5209_5248del40insTC (p.Arg1737Serfs)indelPathogenicrs273901753GRCh37Chr 17, 41209098: 41209137
938BRCA1NM_007294.3(BRCA1): c.520delC (p.Gln174Lysfs)deletionPathogenicrs80357639GRCh37Chr 17, 41251819: 41251819
939BRCA1NM_007294.3(BRCA1): c.5212G> A (p.Gly1738Arg)single nucleotide variantPathogenicrs80356937GRCh37Chr 17, 41209134: 41209134
940BRCA1NM_007294.3(BRCA1): c.5229_5230delAA (p.Arg1744Lysfs)deletionPathogenicrs80357852GRCh37Chr 17, 41209116: 41209117
941BRCA1NM_007294.3(BRCA1): c.5239C> T (p.Gln1747Ter)single nucleotide variantPathogenicrs80357367GRCh37Chr 17, 41209107: 41209107
942BRCA1NM_007294.3(BRCA1): c.5243delG (p.Gly1748Valfs)deletionPathogenicrs80357676GRCh37Chr 17, 41209103: 41209103
943BRCA1NM_007294.3(BRCA1): c.5251C> T (p.Arg1751Ter)single nucleotide variantPathogenicrs80357123GRCh37Chr 17, 41209095: 41209095
944BRCA1NM_007294.3(BRCA1): c.5260G> T (p.Glu1754Ter)single nucleotide variantPathogenicrs80357432GRCh37Chr 17, 41209086: 41209086
945BRCA1NM_007294.3(BRCA1): c.5274delA (p.Lys1759Argfs)deletionPathogenicrs80357732GRCh37Chr 17, 41209072: 41209072
946BRCA1NM_007294.3(BRCA1): c.5278-1G> Asingle nucleotide variantPathogenicrs80358099GRCh37Chr 17, 41203135: 41203135
947BRCA1NM_007294.3(BRCA1): c.5278-1G> Csingle nucleotide variantPathogenicrs80358099GRCh37Chr 17, 41203135: 41203135
948BRCA1NM_007294.3(BRCA1): c.5278-1G> Tsingle nucleotide variantPathogenicrs80358099GRCh37Chr 17, 41203135: 41203135
949BRCA1NM_007294.3(BRCA1): c.5284delA (p.Arg1762Glyfs)deletionPathogenicrs80357684GRCh37Chr 17, 41203128: 41203128
950BRCA1NM_007294.3(BRCA1): c.5291T> C (p.Leu1764Pro)single nucleotide variantPathogenicrs80357281GRCh37Chr 17, 41203121: 41203121
951BRCA1NM_007294.3(BRCA1): c.529delT (p.Ser177Leufs)deletionPathogenicrs80357758GRCh37Chr 17, 41251810: 41251810
952BRCA1NM_007294.3(BRCA1): c.5310delG (p.Phe1772Serfs)deletionPathogenicrs80357581GRCh37Chr 17, 41203102: 41203102
953BRCA1NM_007294.3(BRCA1): c.5319dupC (p.Asn1774Glnfs)duplicationPathogenicrs80357823GRCh37Chr 17, 41203093: 41203093
954BRCA1NM_007294.3(BRCA1): c.5320_5321delAA (p.Asn1774Hisfs)deletionPathogenicrs80357818GRCh37Chr 17, 41203091: 41203092
955BRCA1NM_007294.3(BRCA1): c.5328dupC (p.Thr1777Hisfs)duplicationPathogenicrs80357751GRCh37Chr 17, 41203084: 41203084
956BRCA1NM_007294.3(BRCA1): c.5332+1G> Asingle nucleotide variantPathogenicrs80358041GRCh37Chr 17, 41203079: 41203079
957BRCA1NM_007294.3(BRCA1): c.5333-1G> Asingle nucleotide variantLikely pathogenicrs80358126GRCh37Chr 17, 41201212: 41201212
958BRCA1NM_007294.3(BRCA1): c.5333-1G> Csingle nucleotide variantPathogenicrs80358126GRCh37Chr 17, 41201212: 41201212
959BRCA1NM_007294.3(BRCA1): c.5333-2A> Tsingle nucleotide variantLikely pathogenicrs397509264GRCh37Chr 17, 41201213: 41201213
960BRCA1NM_007294.3(BRCA1): c.5341G> T (p.Glu1781Ter)single nucleotide variantPathogenicrs397509268GRCh37Chr 17, 41201203: 41201203
961BRCA1NM_007294.3(BRCA1): c.5341delG (p.Glu1781Asnfs)deletionPathogenicrs80357694GRCh37Chr 17, 41201203: 41201203
962BRCA1NM_007294.3(BRCA1): c.5345G> A (p.Trp1782Ter)single nucleotide variantPathogenicrs80357219GRCh37Chr 17, 41201199: 41201199
963BRCA1NM_007294.3(BRCA1): c.5353C> T (p.Gln1785Ter)single nucleotide variantPathogenicrs80356969GRCh37Chr 17, 41201191: 41201191
964BRCA1NM_007294.3(BRCA1): c.5359T> A (p.Cys1787Ser)single nucleotide variantPathogenicrs80357065GRCh37Chr 17, 41201185: 41201185
965BRCA1NM_007294.3(BRCA1): c.5386dupT (p.Ser1796Phefs)duplicationPathogenicrs80357838GRCh37Chr 17, 41201158: 41201158
966BRCA1NM_007294.3(BRCA1): c.5407-2A> Gsingle nucleotide variantPathogenicrs80358002GRCh37Chr 17, 41199722: 41199722
967BRCA1NM_007294.3(BRCA1): c.5419delA (p.Ile1807Leufs)deletionPathogenicrs80357934GRCh37Chr 17, 41199708: 41199708
968BRCA1NM_007294.3(BRCA1): c.5431C> T (p.Gln1811Ter)single nucleotide variantLikely pathogenic, Pathogenicrs397509283GRCh37Chr 17, 41199696: 41199696
969BRCA1NM_007294.3(BRCA1): c.5440delG (p.Ala1814Profs)deletionPathogenicrs80357946GRCh37Chr 17, 41199687: 41199687
970BRCA1NM_007294.3(BRCA1): c.5444G> A (p.Trp1815Ter)single nucleotide variantPathogenicrs80356962GRCh37Chr 17, 41199683: 41199683
971BRCA1NM_007294.3(BRCA1): c.5445G> A (p.Trp1815Ter)single nucleotide variantPathogenicrs397509284GRCh37Chr 17, 41199682: 41199682
972BRCA1NM_007294.3(BRCA1): c.5449G> T (p.Glu1817Ter)single nucleotide variantPathogenicrs80356868GRCh37Chr 17, 41199678: 41199678
973BRCA1NM_007294.3(BRCA1): c.547+1G> Tsingle nucleotide variantLikely pathogenic, Pathogenicrs80358030GRCh37Chr 17, 41251791: 41251791
974BRCA1NM_007294.3(BRCA1): c.5470_5477delATTGGGCA (p.Ile1824Aspfs)deletionPathogenicrs80357973GRCh37Chr 17, 41197810: 41197817
975BRCA1NM_007294.3(BRCA1): c.5492delC (p.Pro1831Leufs)deletionLikely pathogenic, Pathogenicrs80357582GRCh37Chr 17, 41197795: 41197795
976BRCA1NM_007294.3(BRCA1): c.5496_5506delGGTGACCCGAGinsA (p.Val1833Serfs)indelPathogenicrs273902775GRCh37Chr 17, 41197781: 41197791
977BRCA1NM_007294.3(BRCA1): c.5497G> A (p.Val1833Met)single nucleotide variantLikely pathogenic, Pathogenicrs80357268GRCh37Chr 17, 41197790: 41197790
978BRCA1NM_007294.3(BRCA1): c.5503C> T (p.Arg1835Ter)single nucleotide variantPathogenicrs41293465GRCh37Chr 17, 41197784: 41197784
979BRCA1NM_007294.3(BRCA1): c.5503_5564del62 (p.Arg1835Thrfs)deletionPathogenicrs80359883GRCh37Chr 17, 41197723: 41197784
980BRCA1NM_007294.3(BRCA1): c.5506G> T (p.Glu1836Ter)single nucleotide variantPathogenicrs80356942GRCh37Chr 17, 41197781: 41197781
981BRCA1NM_007294.3(BRCA1): c.5510G> A (p.Trp1837Ter)single nucleotide variantPathogenicrs80357307GRCh37Chr 17, 41197777: 41197777
982BRCA1NM_007294.3(BRCA1): c.5511G> A (p.Trp1837Ter)single nucleotide variantPathogenicrs80356914GRCh37Chr 17, 41197776: 41197776
983BRCA1NM_007294.3(BRCA1): c.5512delG (p.Val1838Cysfs)deletionPathogenicrs80357839GRCh37Chr 17, 41197775: 41197775
984BRCA1NM_007294.3(BRCA1): c.5513T> A (p.Val1838Glu)single nucleotide variantPathogenicrs80357107GRCh37Chr 17, 41197774: 41197774
985BRCA1NM_007294.3(BRCA1): c.5521delA (p.Ser1841Valfs)deletionPathogenicrs80357721GRCh37Chr 17, 41197766: 41197766
986BRCA1NM_007294.3(BRCA1): c.5535C> A (p.Tyr1845Ter)single nucleotide variantPathogenicrs80356977GRCh37Chr 17, 41197752: 41197752
987BRCA1NM_007294.3(BRCA1): c.5536C> T (p.Gln1846Ter)single nucleotide variantLikely pathogenic, Pathogenicrs80356873GRCh37Chr 17, 41197751: 41197751
988BRCA1NM_007294.3(BRCA1): c.5541C> A (p.Cys1847Ter)single nucleotide variantPathogenicrs397509295GRCh37Chr 17, 41197746: 41197746
989BRCA1NM_007294.3(BRCA1): c.5558dupA (p.Tyr1853Terfs)duplicationPathogenicrs80357629GRCh37Chr 17, 41197729: 41197729
990BRCA1NM_007294.3(BRCA1): c.5559C> A (p.Tyr1853Ter)single nucleotide variantPathogenicrs80357336GRCh37Chr 17, 41197728: 41197728
991BRCA1NM_007294.3(BRCA1): c.64delT (p.Leu22Terfs)deletionPathogenicrs80357803GRCh37Chr 17, 41276050: 41276050
992BRCA1NM_007294.3(BRCA1): c.65T> C (p.Leu22Ser)single nucleotide variantPathogenicrs80357438GRCh37Chr 17, 41276049: 41276049
993BRCA1NM_007294.3(BRCA1): c.668delA (p.Lys223Argfs)deletionPathogenicrs80357745GRCh37Chr 17, 41247865: 41247865
994BRCA1NM_007294.3(BRCA1): c.671-2A> Csingle nucleotide variantPathogenicrs80358108GRCh37Chr 17, 41246879: 41246879
995BRCA1NM_007294.3(BRCA1): c.685delT (p.Ser229Leufs)deletionPathogenicrs80357824GRCh37Chr 17, 41246863: 41246863
996BRCA1NM_007294.3(BRCA1): c.68_69dupAG (p.Cys24Serfs)duplicationPathogenicrs80357914GRCh37Chr 17, 41276045: 41276046
997BRCA1NM_007294.3(BRCA1): c.70_80delTGTCCCATCTG (p.Cys24Serfs)deletionPathogenicrs80357696GRCh37Chr 17, 41276034: 41276044
998BRCA1NM_007294.3(BRCA1): c.731delA (p.Asn244Metfs)deletionPathogenicrs80357700GRCh37Chr 17, 41246817: 41246817
999BRCA1NM_007294.3(BRCA1): c.73_74delCC (p.Pro25Hisfs)deletionPathogenicrs80357633GRCh37Chr 17, 41276040: 41276041
1000BRCA1NM_007294.3(BRCA1): c.763G> T (p.Glu255Ter)single nucleotide variantPathogenicrs80357009GRCh37Chr 17, 41246785: 41246785
1001BRCA1NM_007294.3(BRCA1): c.775delG (p.Glu259Lysfs)deletionPathogenicrs80357628GRCh37Chr 17, 41246773: 41246773
1002BRCA1NM_007294.3(BRCA1): c.791_794delGTTC (p.Ser264Metfs)deletionPathogenicrs80357707GRCh37Chr 17, 41246754: 41246757
1003BRCA1NM_007294.3(BRCA1): c.794_795delCT (p.Ser265Cysfs)deletionPathogenicrs80357955GRCh37Chr 17, 41246753: 41246754
1004BRCA1NM_007294.3(BRCA1): c.80+1G> Asingle nucleotide variantPathogenicrs80358010GRCh37Chr 17, 41276033: 41276033
1005BRCA1NM_007294.3(BRCA1): c.800C> G (p.Ser267Ter)single nucleotide variantPathogenicrs80357392GRCh37Chr 17, 41246748: 41246748
1006BRCA1NM_007294.3(BRCA1): c.809delA (p.His270Leufs)deletionPathogenicrs80357965GRCh37Chr 17, 41246739: 41246739
1007BRCA1NM_007294.3(BRCA1): c.81-2A> Gsingle nucleotide variantPathogenicrs397509326GRCh37Chr 17, 41267798: 41267798
1008BRCA1NM_007294.3(BRCA1): c.81-2delAdeletionPathogenicrs273902791GRCh37Chr 17, 41267798: 41267798
1009BRCA1NM_007294.3(BRCA1): c.815_824dupAGCCATGTGG (p.Thr276Alafs)duplicationPathogenicrs387906563GRCh37Chr 17, 41246724: 41246733
1010BRCA1NM_007294.3(BRCA1): c.822T> A (p.Cys274Ter)single nucleotide variantPathogenicrs80357331GRCh37Chr 17, 41246726: 41246726
1011BRCA1NM_007294.3(BRCA1): c.835delC (p.His279Metfs)deletionPathogenicrs80357523GRCh37Chr 17, 41246713: 41246713
1012BRCA1NM_007294.3(BRCA1): c.83_84delTG (p.Leu28Argfs)deletionPathogenicrs80357728GRCh37Chr 17, 41267793: 41267794
1013BRCA1NM_007294.3(BRCA1): c.844_850dupTCATTAC (p.Gln284Leufs)duplicationPathogenicrs80357989GRCh37Chr 17, 41246698: 41246704
1014BRCA1NM_007294.3(BRCA1): c.848T> A (p.Leu283Ter)single nucleotide variantPathogenicrs273902792GRCh37Chr 17, 41246700: 41246700
1015BRCA1NM_007294.3(BRCA1): c.848T> G (p.Leu283Ter)single nucleotide variantPathogenicrs273902792GRCh37Chr 17, 41246700: 41246700
1016BRCA1NM_007294.3(BRCA1): c.850C> T (p.Gln284Ter)single nucleotide variantPathogenicrs397509330GRCh37Chr 17, 41246698: 41246698
1017BRCA1NM_007294.3(BRCA1): c.851_852delAG (p.Gln284Profs)deletionPathogenicrs80357719GRCh37Chr 17, 41246696: 41246697
1018BRCA1NM_007294.3(BRCA1): c.895_896delGT (p.Val299Argfs)deletionPathogenicrs80357670GRCh37Chr 17, 41246652: 41246653
1019BRCA1NM_007294.3(BRCA1): c.89T> A (p.Leu30Ter)single nucleotide variantPathogenicrs397509331GRCh37Chr 17, 41267788: 41267788
1020BRCA1NM_007294.3(BRCA1): c.904delG (p.Ala302Leufs)deletionPathogenicrs273903793GRCh37Chr 17, 41246644: 41246644
1021BRCA1NM_007294.3(BRCA1): c.911delT (p.Phe304Serfs)deletionPathogenicrs80357622GRCh37Chr 17, 41246637: 41246637
1022BRCA1NM_007294.3(BRCA1): c.922_923delAG (p.Ser308Glnfs)deletionPathogenicrs80357644GRCh37Chr 17, 41246625: 41246626
1023BRCA1NM_007294.3(BRCA1): c.922_924delAGCinsT (p.Ser308Terfs)indelPathogenicrs397509335GRCh37Chr 17, 41246624: 41246626
1024BRCA1NM_007294.3(BRCA1): c.923delG (p.Ser308Thrfs)deletionPathogenicrs80357953GRCh37Chr 17, 41246625: 41246625
1025BRCA1NM_007294.3(BRCA1): c.930delG (p.Gln310Hisfs)deletionPathogenicrs80357689GRCh37Chr 17, 41246618: 41246618
1026BRCA1NM_007294.3(BRCA1): c.949C> T (p.Gln317Ter)single nucleotide variantPathogenicrs80357211GRCh37Chr 17, 41246599: 41246599
1027BRCA1NM_007294.3(BRCA1): c.949_953delCAACA (p.Gln317Terfs)deletionPathogenicrs80357555GRCh37Chr 17, 41246595: 41246599
1028BRCA1NM_007294.3(BRCA1): c.959_960delGA (p.Arg320Metfs)deletionPathogenicrs397509339GRCh37Chr 17, 41246588: 41246589
1029BRCA1NM_007294.3(BRCA1): c.964delG (p.Ala322Leufs)deletionPathogenicrs273903794GRCh37Chr 17, 41246584: 41246584
1030BRCA1NM_007294.3(BRCA1): c.980_981delCA (p.Thr327Metfs)deletionPathogenicrs80357610GRCh37Chr 17, 41246567: 41246568
1031BRCA1NM_007294.3(BRCA1): c.981_982delAT (p.Cys328Terfs)deletionPathogenicrs80357772GRCh37Chr 17, 41246566: 41246567
1032NBNNM_002485.4(NBN): c.657_661delACAAA (p.Lys219Asnfs)deletionPathogenic, risk factorrs587776650GRCh37Chr 8, 90983442: 90983446
1033BRCA1NM_007294.3(BRCA1): c.1086_1141del56 (p.Asn363Serfs)deletionPathogenicrs80359875GRCh37Chr 17, 41246407: 41246462
1034BRCA1NM_007294.3(BRCA1): c.1093A> T (p.Arg365Ter)single nucleotide variantPathogenicrs398122627GRCh37Chr 17, 41246455: 41246455
1035BRCA1NM_007294.3(BRCA1): c.1292delT (p.Leu431Tyrfs)deletionPathogenicrs398122629GRCh37Chr 17, 41246256: 41246256
1036BRCA1NM_007294.3(BRCA1): c.1326_1327insGT (p.Lys443Valfs)insertionPathogenicrs80357543GRCh37Chr 17, 41246221: 41246222
1037BRCA1NM_007294.3(BRCA1): c.1327A> T (p.Lys443Ter)single nucleotide variantPathogenicrs398122630GRCh37Chr 17, 41246221: 41246221
1038BRCA1NM_007294.3(BRCA1): c.1336dupA (p.Arg446Lysfs)duplicationPathogenicrs398122631GRCh37Chr 17, 41246212: 41246212
1039BRCA1NM_007294.3(BRCA1): c.134+2T> Csingle nucleotide variantPathogenicrs80358131GRCh37Chr 17, 41267741: 41267741
1040BRCA1NM_007294.3(BRCA1): c.134+5G> Asingle nucleotide variantLikely pathogenicrs80358038GRCh37Chr 17, 41267738: 41267738
1041BRCA1NM_007294.3(BRCA1): c.1361delG (p.Ser454Ilefs)deletionPathogenicrs398122632GRCh37Chr 17, 41246187: 41246187
1042BRCA1NM_007294.3(BRCA1): c.1377_1378delAA (p.Lys459Asnfs)deletionPathogenicrs398122633GRCh37Chr 17, 41246170: 41246171
1043BRCA1NM_007294.3(BRCA1): c.141C> A (p.Cys47Ter)single nucleotide variantPathogenicrs398122635GRCh37Chr 17, 41258544: 41258544
1044BRCA1NM_007294.3(BRCA1): c.1512dupT (p.Lys505Terfs)duplicationPathogenicrs398122636GRCh37Chr 17, 41246036: 41246036
1045BRCA1NM_007294.3(BRCA1): c.1628delG (p.Gly543Valfs)deletionPathogenicrs398122640GRCh37Chr 17, 41245920: 41245920
1046BRCA1NM_007294.3(BRCA1): c.1744delA (p.Thr582Argfs)deletionPathogenicrs398122641GRCh37Chr 17, 41245804: 41245804
1047BRCA1NM_007294.3(BRCA1): c.1759delA (p.Ile587Terfs)deletionPathogenicrs398122642GRCh37Chr 17, 41245789: 41245789
1048BRCA1NM_007294.3(BRCA1): c.1875delA (p.Val626Terfs)deletionPathogenicrs398122646GRCh37Chr 17, 41245673: 41245673
1049BRCA1NM_007294.3(BRCA1): c.18_19insG (p.Arg7Alafs)insertionPathogenicrs398122648GRCh37Chr 17, 41276095: 41276096
1050BRCA1NM_007294.3(BRCA1): c.1921delA (p.Ile641Leufs)deletionPathogenicrs398122650GRCh37Chr 17, 41245627: 41245627
1051BRCA1NM_007294.3(BRCA1): c.203_204delTA (p.Ile68Asnfs)deletionPathogenicrs398122651GRCh37Chr 17, 41258481: 41258482
1052BRCA1NM_007294.3(BRCA1): c.2070_2071delAA (p.Arg691Thrfs)deletionPathogenicrs273898676GRCh37Chr 17, 41245477: 41245478
1053BRCA1NM_007294.3(BRCA1): c.2131_2132delAA (p.Lys711Valfs)deletionPathogenicrs398122653GRCh37Chr 17, 41245416: 41245417
1054BRCA1NM_007294.3(BRCA1): c.2199delG (p.Lys734Asnfs)deletionPathogenicrs80357944GRCh37Chr 17, 41245349: 41245349
1055BRCA1NM_007294.3(BRCA1): c.2246_2247insGA (p.Asp749Glufs)insertionPathogenicrs398122654GRCh37Chr 17, 41245301: 41245302
1056BRCA1NM_007294.3(BRCA1): c.2386dupA (p.Thr796Asnfs)duplicationPathogenicrs398122657GRCh37Chr 17, 41245162: 41245162
1057BRCA1NM_007294.3(BRCA1): c.241_251delCAACTTGTTGA (p.Gln81Argfs)deletionPathogenicrs398122659GRCh37Chr 17, 41256935: 41256945
1058BRCA1NM_007294.3(BRCA1): c.2504_2505ins17 (p.?)insertionPathogenicrs483353078GRCh37Chr 17, 41245043: 41245044
1059BRCA1NM_007294.3(BRCA1): c.250G> T (p.Glu84Ter)single nucleotide variantPathogenicrs398122661GRCh37Chr 17, 41256936: 41256936
1060BRCA1NM_007294.3(BRCA1): c.2654delT (p.Phe885Serfs)deletionPathogenicrs398122663GRCh37Chr 17, 41244894: 41244894
1061BRCA1NM_007294.3(BRCA1): c.2686dupA (p.Ser896Lysfs)duplicationPathogenicrs398122664GRCh37Chr 17, 41244862: 41244862
1062BRCA1NM_007294.3(BRCA1): c.2748delT (p.Asn916Lysfs)deletionPathogenicrs398122667GRCh37Chr 17, 41244800: 41244800
1063BRCA1NM_007294.3(BRCA1): c.2774delT (p.Ile925Thrfs)deletionPathogenicrs398122669GRCh37Chr 17, 41244774: 41244774
1064BRCA1NM_007294.3(BRCA1): c.2902_2903insTC (p.Pro968Leufs)insertionPathogenicrs398122670GRCh37Chr 17, 41244645: 41244646
1065BRCA1NM_007294.3(BRCA1): c.2940delA (p.Pro981Hisfs)deletionPathogenicrs80357876GRCh37Chr 17, 41244608: 41244608
1066BRCA1NM_007294.3(BRCA1): c.3204delT (p.Gln1069Lysfs)deletionPathogenicrs398122673GRCh37Chr 17, 41244344: 41244344
1067BRCA1NM_007294.3(BRCA1): c.3599_3600delAG (p.Gln1200Argfs)deletionPathogenicrs398122674GRCh37Chr 17, 41243948: 41243949
1068BRCA1NM_007294.3(BRCA1): c.3672delC (p.Cys1225Alafs)deletionPathogenicrs398122677GRCh37Chr 17, 41243876: 41243876
1069BRCA1NM_007294.3(BRCA1): c.3761_3762insTT (p.Lys1254Asnfs)insertionPathogenicrs80357928GRCh37Chr 17, 41243786: 41243787
1070BRCA1NM_007294.3(BRCA1): c.3839_3843delCTCAGins4indelPathogenicrs273900717GRCh37Chr 17, 41243705: 41243709
1071BRCA1NM_007294.3(BRCA1): c.4054G> T (p.Glu1352Ter)single nucleotide variantPathogenicrs80357202GRCh37Chr 17, 41243494: 41243494
1072BRCA1NM_007294.3(BRCA1): c.4062_4065delTAAT (p.Asn1355Lysfs)deletionPathogenicrs398122679GRCh37Chr 17, 41243483: 41243486
1073BRCA1NM_007294.3(BRCA1): c.4094T> G (p.Leu1365Ter)single nucleotide variantPathogenicrs398122681GRCh37Chr 17, 41243454: 41243454
1074BRCA1NM_007294.3(BRCA1): c.4116_4117insTT (p.Glu1373Leufs)insertionPathogenicrs398122682GRCh37Chr 17, 41243029: 41243030
1075BRCA1NM_007294.3(BRCA1): c.4155_4156ins10 (p.?)insertionPathogenicrs483353079GRCh37Chr 17, 41242990: 41242991
1076BRCA1NM_007294.3(BRCA1): c.4354A> T (p.Lys1452Ter)single nucleotide variantPathogenicrs398122685GRCh37Chr 17, 41234424: 41234424
1077BRCA1NM_007294.3(BRCA1): c.4357+2T> Gsingle nucleotide variantPathogenicrs80358152GRCh37Chr 17, 41234419: 41234419
1078BRCA1NM_007294.3(BRCA1): c.4493delC (p.Pro1498Leufs)deletionPathogenicrs398122687GRCh37Chr 17, 41226530: 41226530
1079BRCA1NM_007294.3(BRCA1): c.5075-3C> Gsingle nucleotide variantLikely pathogenicrs398122690GRCh37Chr 17, 41215971: 41215971
1080BRCA1NM_007294.3(BRCA1): c.5186delT (p.Leu1729Argfs)deletionPathogenicrs398122692GRCh37Chr 17, 41215357: 41215357
1081BRCA1NM_007294.3(BRCA1): c.5193+1G> Tsingle nucleotide variantPathogenicrs80358004GRCh37Chr 17, 41215349: 41215349
1082BRCA1NM_007294.3(BRCA1): c.5277+1delGdeletionPathogenicrs273901754GRCh37Chr 17, 41209068: 41209068
1083BRCA1NM_007294.3(BRCA1): c.5468-2A> Gsingle nucleotide variantLikely pathogenicrs398122699GRCh38Chr 17, 43045804: 43045804
1084BRCA1NM_007294.3(BRCA1): c.670+1G> Tsingle nucleotide variantLikely pathogenic, Pathogenicrs398122706GRCh37Chr 17, 41247862: 41247862
1085BRCA1NM_007294.3(BRCA1): c.81-1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs80358018GRCh37Chr 17, 41267797: 41267797
1086BRCA1NM_007294.3(BRCA1): c.936delC (p.Leu313Terfs)deletionPathogenicrs398122709GRCh37Chr 17, 41246612: 41246612
1087BRCA1NP_009225.1: p.Ala521Terprotein onlyPathogenic
1088BRCA1NP_009225.1: p.Cys39Serprotein onlyPathogenic
1089BRCA1NP_009225.1: p.Gly1738Argprotein onlyPathogenic
1090BRCA1NP_009225.1: p.Leu1230Terprotein onlyPathogenic
1091BRCA1NP_009225.1: p.Leu598Terprotein onlyPathogenic
1092BRCA1NP_009225.1: p.Ser1383Terprotein onlyPathogenic
1093BRCA1NP_009225.1: p.Ser868Terprotein onlyPathogenic
1094BRCA1NP_009225.1: p.Trp1508Terprotein onlyPathogenic
1095BRCA1NP_009225.1: p.Trp1782Terprotein onlyPathogenic
1096BRCA1NP_009225.1: p.Trp1815Terprotein onlyPathogenic
1097BRCA1NP_009225.1: p.Trp1837Argprotein onlyLikely pathogenic
1098BRCA1NP_009225.1: p.Trp321Terprotein onlyPathogenic
1099BRCA1NP_009225.1: p.Tyr1563Terprotein onlyPathogenic
1100BRCA1NP_009225.1: p.Tyr1703Terprotein onlyPathogenic
1101BRCA1NP_009225.1: p.Tyr261Terprotein onlyPathogenic
1102BRCA2NM_000059.3(BRCA2): c.2808_2811del4 (p.Ala938Profs)deletionPathogenicrs80359351GRCh37Chr 13, 32911300: 32911303
1103BRCA2NM_000059.3(BRCA2): c.658_659delGT (p.Val220Ilefs)deletionPathogenicrs80359604GRCh37Chr 13, 32903606: 32903607
1104BRCA2NM_000059.3(BRCA2): c.9196C> T (p.Gln3066Ter)single nucleotide variantPathogenicrs80359180GRCh37Chr 13, 32954222: 32954222
1105BRCA2NM_000059.3(BRCA2): c.7985C> A (p.Thr2662Lys)single nucleotide variantPathogenicrs431825362GRCh37Chr 13, 32937324: 32937324
1106BRCA1NM_007294.3(BRCA1): c.*102_*105delCTGTdeletionPathogenicrs431825382GRCh37Chr 17, 41197590: 41197593
1107BRCA1NM_007294.3(BRCA1): c.1148_1149delAT (p.Asn383Argfs)deletionPathogenicrs431825384GRCh37Chr 17, 41246399: 41246400
1108BRCA1NM_007294.3(BRCA1): c.1214C> G (p.Ser405Ter)single nucleotide variantPathogenicrs80357481GRCh37Chr 17, 41246334: 41246334
1109BRCA1NM_007294.3(BRCA1): c.1298_1299ins4insertionPathogenicrs483353083GRCh37Chr 17, 41246249: 41246250
1110BRCA1NM_007294.3(BRCA1): c.130dupT (p.Cys44Leufs)duplicationPathogenicrs431825385GRCh37Chr 17, 41267747: 41267747
1111BRCA1NM_007294.3(BRCA1): c.134+5G> Tsingle nucleotide variantLikely pathogenicrs80358038GRCh37Chr 17, 41267738: 41267738
1112BRCA1NM_007294.3(BRCA1): c.1434delT (p.Glu479Lysfs)deletionPathogenicrs431825386GRCh37Chr 17, 41246114: 41246114
1113BRCA1NM_007294.3(BRCA1): c.1579_1580delAA (p.Lys527Aspfs)deletionPathogenicrs431825387GRCh37Chr 17, 41245968: 41245969
1114BRCA1NM_007294.3(BRCA1): c.2001dupA (p.Leu668Thrfs)duplicationPathogenicrs80357521GRCh37Chr 17, 41245547: 41245547
1115BRCA1NM_007294.3(BRCA1): c.2101_2102delAA (p.Lys701Valfs)deletionPathogenicrs431825389GRCh37Chr 17, 41245446: 41245447
1116BRCA1NM_007294.3(BRCA1): c.368delC (p.Ser123Leufs)deletionPathogenicrs431825397GRCh37Chr 17, 41256212: 41256212
1117BRCA1NM_007294.3(BRCA1): c.3759delT (p.Lys1254Argfs)deletionPathogenicrs431825398GRCh37Chr 17, 41243789: 41243789
1118BRCA1NM_007294.3(BRCA1): c.4038_4041delAAGA (p.Arg1347Glufs)deletionPathogenicrs431825404GRCh37Chr 17, 41243507: 41243510
1119BRCA1NM_007294.3(BRCA1): c.4072G> T (p.Glu1358Ter)single nucleotide variantPathogenicrs397509136GRCh37Chr 17, 41243476: 41243476
1120BRCA1NM_007294.3(BRCA1): c.4185+2T> Asingle nucleotide variantPathogenicrs431825406GRCh37Chr 17, 41242959: 41242959
1121BRCA1NM_007294.3(BRCA1): c.4348dupT (p.Ser1450Phefs)duplicationPathogenicrs80357548GRCh37Chr 17, 41234430: 41234430
1122BRCA1NM_007294.3(BRCA1): c.4450_4451ins4insertionPathogenicrs483353084GRCh37Chr 17, 41228538: 41228539
1123BRCA1NM_007294.3(BRCA1): c.4587_4590delTAAG (p.Ile1529Metfs)deletionPathogenicrs431825409GRCh37Chr 17, 41226433: 41226436
1124BRCA1NM_007294.3(BRCA1): c.4986+5G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs397509211GRCh37Chr 17, 41222940: 41222940
1125BRCA1NM_007294.3(BRCA1): c.5026_5030delTTAAC (p.Leu1676Terfs)deletionPathogenicrs431825410GRCh37Chr 17, 41219669: 41219673
1126BRCA1NM_007294.3(BRCA1): c.5193+1G> Asingle nucleotide variantPathogenicrs80358004GRCh37Chr 17, 41215349: 41215349
1127BRCA1NM_007294.3(BRCA1): c.5268_5269insC (p.Asp1757Argfs)insertionPathogenicrs431825414GRCh37Chr 17, 41209077: 41209078
1128BRCA1NM_007294.3(BRCA1): c.5467+3A> Csingle nucleotide variantPathogenicrs431825417GRCh37Chr 17, 41199657: 41199657
1129BRCA1NM_007294.3(BRCA1): c.5479_5480insGA (p.Met1827Argfs)insertionPathogenicrs80357757GRCh37Chr 17, 41197807: 41197808
1130BRCA1NP_009225.1: p.Leu1086Terprotein onlyPathogenic
1131BRCA1NP_009225.1: p.Leu63Terprotein onlyPathogenic
1132BRCA1NP_009225.1: p.Ser1007Terprotein onlyPathogenic
1133BRCA1NP_009225.1: p.Ser713Terprotein onlyPathogenic
1134BRCA1NP_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

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

(show all 18)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.3BRCA1, NBN
2
Show member pathways
9.3BRCA1, NBN
3
Show member pathways
9.3BRCA1, NBN
49.3BRCA1, 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
14
Show member pathways
8.5BRCA1, 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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Cellular components related to Breast-Ovarian Cancer, Familial, 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nuclear chromosome, telomeric regionGO:00007849.1BRCA2, NBN

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1double-strand break repair via nonhomologous end joiningGO:00063039.7BRCA1, NBN
2DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:00069789.6BRCA1, BRCA2
3chromosome breakageGO:00310529.6BRCA1, BRCA2
4DNA double-strand break processingGO:00007299.6BRCA1, NBN
5regulation of signal transduction by p53 class mediatorGO:19017969.6BRCA1, NBN
6chordate embryonic developmentGO:00430099.5BRCA1, BRCA2
7intrinsic apoptotic signaling pathway in response to DNA damageGO:00086309.5BRCA1, BRCA2
8response to nutrientGO:00075849.4BRCA1, BRCA2
9cellular response to DNA damage stimulusGO:00069749.3BRCA1, BRCA2
10DNA replicationGO:00062609.3BRCA1, NBN
11double-strand break repair via homologous recombinationGO:00007249.1BRCA1, BRCA2, NBN
12response to estradiolGO:00323559.0BRCA1, BRCA2
13double-strand break repairGO:00063028.9BRCA1, BRCA2, NBN
14strand displacementGO:00007328.8BRCA1, BRCA2, NBN
15DNA synthesis involved in DNA repairGO:00007318.8BRCA1, BRCA2, NBN
16brain developmentGO:00074208.7BRCA1, BRCA2

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

idNameGO IDScoreTop Affiliating Genes
1damaged DNA bindingGO:00036849.3BRCA1, NBN

Sources for Breast-Ovarian Cancer, Familial, 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet