MCID: BRS071
MIFTS: 32

Breast-Ovarian Cancer, Familial, 1 malady

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

Summaries for Breast-Ovarian Cancer, Familial, 1

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MalaCards based summary: Breast-Ovarian Cancer, Familial, 1, also known as breast-ovarian cancer, familial 1, is related to nijmegen breakage syndrome and aplastic anemia, and has symptoms including autosomal dominant inheritance, multifactorial inheritance and breast carcinoma. An important gene associated with Breast-Ovarian Cancer, Familial, 1 is BRCA1 (breast cancer 1, early onset), and among its related pathways are DNA Repair and Meiosis. The compounds methylmethanesulfonate and hydroxyurea have been mentioned in the context of this disorder. Affiliated tissues include breast, and related mouse phenotype tumorigenesis.

Description from OMIM:45 604370

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

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

Name: Breast-Ovarian Cancer, Familial, 1 45 10
 
Breast-Ovarian Cancer, Familial 1 45 22


Classifications:



External Ids:

OMIM45 604370

Related Diseases for Breast-Ovarian Cancer, Familial, 1

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Graphical network of 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 autosomal dominant inheritance HP:0000006
2 multifactorial inheritance HP:0001426
3 breast carcinoma HP:0003002

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

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Drug clinical trials:

Search ClinicalTrials for Breast-Ovarian Cancer, Familial, 1

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

Genetic Tests for Breast-Ovarian Cancer, Familial, 1

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Genetic tests related to Breast-Ovarian Cancer, Familial, 1:

id Genetic test Affiliating Genes
1 Breast-Ovarian Cancer, Familial 122

Anatomical Context for Breast-Ovarian Cancer, Familial, 1

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

31
Breast

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:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.1BRCA1, 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:

62
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:

6 (show all 1,073)
id Gene Variation Type Significance SNP ID Assembly Location
1BRCA1undetermined variantPathogenic
2BRCA1undetermined variantPathogenic
3BRCA1undetermined variantPathogenic
4BRCA1NM_007294.3(BRCA1): c.882delA (p.Asp295Thrfs)deletionPathogenicrs80357587GRCh38Chr 17, 43094649: 43094649
5BRCA1undetermined variantPathogenic
6BRCA1NM_007294.3(BRCA1): c.894_895delTG (p.Val299Argfs)deletionPathogenicrs80357759GRCh38Chr 17, 43094636: 43094637
7BRCA1NM_007294.3(BRCA1): c.895_896insAATG (p.Val299Glufs)insertionPathogenicrs80357806GRCh37Chr 17, 41246652: 41246653
8BRCA1NM_007294.3(BRCA1): c.902_903insT (p.Lys301Asnfs)insertionPathogenicrs80357726GRCh38Chr 17, 43094628: 43094629
9BRCA1NM_007294.3(BRCA1): c.953_954insTG (p.Asn319Valfs)insertionPathogenicrs80357690GRCh37Chr 17, 41246594: 41246595
10BRCA1NM_007294.3(BRCA1): c.984_985insC (p.Asn329Glnfs)insertionPathogenicrs80357775GRCh37Chr 17, 41246563: 41246564
11BRCA1NM_007294.3(BRCA1): c.1010delA (p.Lys339Argfs)deletionPathogenicrs80357911GRCh38Chr 17, 43094521: 43094521
12BRCA1NM_007294.3(BRCA1): c.1101_1102insC (p.Glu368Argfs)insertionPathogenicrs80357665GRCh38Chr 17, 43094429: 43094430
13BRCA1NM_007294.3(BRCA1): c.1129dupA (p.Ser377Lysfs)duplicationPathogenicrs80357776GRCh38Chr 17, 43094401: 43094402
14BRCA1NM_007294.3(BRCA1): c.19_47del29 (p.Arg7Cysfs)deletionPathogenicrs80359871GRCh38Chr 17, 43124050: 43124078
15BRCA1NM_007294.3(BRCA1): c.1356delA (p.Glu453Argfs)deletionPathogenicrs80357939GRCh38Chr 17, 43094175: 43094175
16BRCA1U14680.1: n.1506AtoGinsGinsertionPathogenic
17BRCA1NM_007294.3(BRCA1): c.1387delA (p.Thr464Profs)deletionPathogenicrs273897658GRCh38Chr 17, 43094144: 43094144
18BRCA1NM_007294.3(BRCA1): c.1392dupC (p.Tyr465Leufs)duplicationPathogenicrs80357592GRCh37Chr 17, 41246155: 41246156
19BRCA1NM_007294.3(BRCA1): c.1440_1441insA (p.Leu481Thrfs)insertionPathogenicrs80357778GRCh38Chr 17, 43094090: 43094091
20BRCA1NM_007294.3(BRCA1): c.1462dupA (p.Thr488Asnfs)duplicationPathogenicrs80357599GRCh38Chr 17, 43094068: 43094069
21BRCA1NM_007294.3(BRCA1): c.1518delG (p.Arg507Aspfs)deletionPathogenicrs80357947GRCh38Chr 17, 43094013: 43094013
22BRCA1NM_007294.3(BRCA1): c.1561_1562delGCinsTA (p.Ala521Ter)indelPathogenicrs273897663GRCh38Chr 17, 43093968: 43093970
23BRCA1NM_007294.3(BRCA1): c.1582_1588delACTCCTG (p.Thr528Lysfs)deletionPathogenicrs80357613GRCh38Chr 17, 43093943: 43093949
24BRCA1NM_007294.3: c.1637_1685del49ins5indelPathogenicGRCh37Chr 17, 41245863: 41245911
25BRCA1NM_007294.3(BRCA1): c.1695dupG (p.Lys566Glufs)duplicationPathogenicrs273897664GRCh38Chr 17, 43093835: 43093836
26BRCA1NM_007294.3(BRCA1): c.1700dupA (p.Asn567Lysfs)duplicationPathogenicrs80357784GRCh38Chr 17, 43093830: 43093831
27BRCA1NM_007294.3(BRCA1): c.65_66insTT (p.Leu22Phefs)insertionPathogenicrs80357642GRCh38Chr 17, 43124031: 43124032
28BRCA1NM_007294.3(BRCA1): c.69_79delGTGTCCCATCT (p.Cys24Serfs)deletionPathogenicrs80357696GRCh38Chr 17, 43124018: 43124028
29BRCA1NM_007294.3(BRCA1): c.70_71insA (p.Cys24Terfs)insertionPathogenicrs80357536GRCh38Chr 17, 43124026: 43124027
30BRCA1NM_007294.3(BRCA1): c.70_71insTGTC (p.Cys24Leufs)insertionPathogenicrs80357536GRCh37Chr 17, 41276043: 41276044
31BRCA1NM_007294.3(BRCA1): c.1812delA (p.Ala605Hisfs)deletionPathogenicrs80357927GRCh38Chr 17, 43093719: 43093719
32BRCA1NM_007294.3(BRCA1): c.1821_1824delAAAG (p.Lys608Ilefs)deletionPathogenicrs80357585GRCh38Chr 17, 43093707: 43093710
33BRCA1NM_007294.3(BRCA1): c.80+1G> Csingle nucleotide variantPathogenicrs80358010GRCh37Chr 17, 41276033: 41276033
34BRCA1NM_007294.3(BRCA1): c.80+1G> Tsingle nucleotide variantPathogenicrs80358010GRCh38Chr 17, 43124016: 43124016
35BRCA1NM_007294.3(BRCA1): c.80+2T> Gsingle nucleotide variantPathogenicrs80358128GRCh37Chr 17, 41276032: 41276032
36BRCA1NM_007294.3(BRCA1): c.1893_1894insT (p.Ser632Terfs)insertionPathogenicrs80357768GRCh38Chr 17, 43093637: 43093638
37BRCA1NM_007294.3(BRCA1): c.2038_2039insCC (p.Lys680Thrfs)insertionPathogenicrs80357940GRCh38Chr 17, 43093492: 43093493
38BRCA1NM_007294.3(BRCA1): c.2068delA (p.Arg691Aspfs)deletionPathogenicrs80357733GRCh37Chr 17, 41245480: 41245480
39BRCA1NM_007294.3(BRCA1): c.2077_2078insTA (p.Asp693Valfs)insertionPathogenicrs80357595GRCh37Chr 17, 41245470: 41245471
40BRCA1NM_007294.3(BRCA1): c.2156dupA (p.Glu720Argfs)duplicationPathogenicrs80357715GRCh38Chr 17, 43093375: 43093376
41BRCA1U14680.1: n.2294delGdeletionPathogenic
42BRCA1NM_007294.3(BRCA1): c.2188dupG (p.Glu730Glyfs)duplicationPathogenicrs80357566GRCh37Chr 17, 41245359: 41245360
43BRCA1NM_007294.3(BRCA1): c.2193_2197delAGAAG (p.Glu733Thrfs)deletionPathogenicrs80357507GRCh37Chr 17, 41245351: 41245355
44BRCA1NM_007294.3(BRCA1): c.2194_2198delGAAGA (p.Glu733Thrfs)deletionPathogenicrs80357755GRCh37Chr 17, 41245350: 41245354
45BRCA1NM_007294.3(BRCA1): c.2195_2199delAAGAG (p.Glu733Thrfs)deletionPathogenicrs80357771GRCh37Chr 17, 41245349: 41245353
46BRCA1NM_007294.3(BRCA1): c.2214delT (p.Val740Cysfs)deletionPathogenicrs80357574GRCh38Chr 17, 43093317: 43093317
47BRCA1NM_007294.3(BRCA1): c.2215_2216insCT (p.Lys739Thrfs)insertionPathogenicrs80357930GRCh37Chr 17, 41245332: 41245333
48BRCA1NM_007294.3(BRCA1): c.2217dupA (p.Val740Serfs)duplicationPathogenicrs80357802GRCh38Chr 17, 43093313: 43093314
49BRCA1NM_007294.3(BRCA1): c.2256_2257insTA (p.Ser753Terfs)insertionPathogenicrs80357557GRCh38Chr 17, 43093274: 43093275
50BRCA1NM_007294.3(BRCA1): c.2273dupT (p.Leu758Phefs)duplicationPathogenicrs80357681GRCh38Chr 17, 43093257: 43093258
51BRCA1NM_007294.3(BRCA1): c.2309C> T (p.Ser770Leu)single nucleotide variantPathogenicrs80357063GRCh38Chr 17, 43093222: 43093222
52BRCA1NM_007294.3(BRCA1): c.2337_2338delTC (p.Gln780Glyfs)deletionPathogenicrs80357515GRCh38Chr 17, 43093193: 43093194
53BRCA1NM_007294.3(BRCA1): c.2355dupA (p.Leu786Thrfs)duplicationPathogenicrs80357990GRCh37Chr 17, 41245192: 41245193
54BRCA1U14680.1: n.2494delCdeletionPathogenic
55BRCA1NM_007294.3(BRCA1): c.2376delG (p.Lys793Argfs)deletionPathogenicrs80357913GRCh38Chr 17, 43093155: 43093155
56BRCA1NM_007294.3(BRCA1): c.2401_2402delTG (p.Val802Glufs)deletionPathogenicrs80357999GRCh38Chr 17, 43093129: 43093130
57BRCA1U14680.1: n.252_256del5insTinsertionPathogenic
58BRCA1NM_007294.3(BRCA1): c.134+1G> Csingle nucleotide variantPathogenicrs80358043GRCh38Chr 17, 43115725: 43115725
59BRCA1NM_007294.3(BRCA1): c.135-2A> Gsingle nucleotide variantPathogenicrs80358065GRCh38Chr 17, 43106535: 43106535
60BRCA1NM_007294.3(BRCA1): c.2438dupG (p.Leu814Thrfs)duplicationPathogenicrs80357503GRCh37Chr 17, 41245109: 41245110
61BRCA1NM_007294.3(BRCA1): c.139dupT (p.Cys47Leufs)duplicationPathogenicrs80357734GRCh38Chr 17, 43106528: 43106529
62BRCA1NM_007294.3(BRCA1): c.2474dupA (p.Asp825Glufs)duplicationPathogenicrs80357830GRCh38Chr 17, 43093056: 43093057
63BRCA1U14680.1: n.2607dupAAGTATCCATduplicationPathogenic
64BRCA1NM_007294.3(BRCA1): c.2561_2562insGC (p.Gln855Leufs)insertionPathogenicrs80357968GRCh37Chr 17, 41244986: 41244987
65BRCA1NM_007294.3(BRCA1): c.2586_2593delGGTTTCAA (p.Val863Alafs)deletionPathogenicrs80357675GRCh38Chr 17, 43092938: 43092945
66BRCA1NM_007294.3(BRCA1): c.2592delA (p.Lys865Serfs)deletionPathogenicrs80357756GRCh38Chr 17, 43092939: 43092939
67BRCA1NM_007294.3(BRCA1): c.2604_2605insGTCA (p.Phe869Valfs)insertionPathogenicrs80357603GRCh38Chr 17, 43092926: 43092927
68BRCA1NM_007294.3(BRCA1): c.2658_2659insA (p.Ala887Serfs)insertionPathogenicrs80357541GRCh38Chr 17, 43092872: 43092873
69BRCA1NM_007294.3(BRCA1): c.2676_2679delAAAG (p.Lys893Asnfs)deletionPathogenicrs80357891GRCh37Chr 17, 41244869: 41244872
70BRCA1NM_007294.3(BRCA1): c.2686delA (p.Ser896Valfs)deletionPathogenicrs273899687GRCh37Chr 17, 41244862: 41244862
71BRCA1NM_007294.3(BRCA1): c.2691dupA (p.Val899Serfs)duplicationPathogenicrs80357549GRCh37Chr 17, 41244857: 41244858
72BRCA1NM_007294.3(BRCA1): c.2700_2701delTT (p.Phe901Terfs)deletionPathogenicrs80357899GRCh38Chr 17, 43092830: 43092831
73BRCA1NM_007294.3(BRCA1): c.2724_2728delAAATC (p.Asn909Argfs)deletionPathogenicrs80357712GRCh38Chr 17, 43092803: 43092807
74BRCA1NM_007294.3(BRCA1): c.2725_2728delAATC (p.Asn909Lysfs)deletionPathogenicrs80357917GRCh37Chr 17, 41244820: 41244823
75BRCA1NM_007294.3(BRCA1): c.166_167insGA (p.Lys56Argfs)insertionPathogenicrs80357550GRCh37Chr 17, 41258518: 41258519
76BRCA1NM_007294.3(BRCA1): c.171delG (p.Pro58Leufs)deletionPathogenicrs80357660GRCh38Chr 17, 43106497: 43106497
77BRCA1NM_007294.3(BRCA1): c.2799delT (p.Gln934Argfs)deletionPathogenicrs80357998GRCh38Chr 17, 43092732: 43092732
78BRCA1NM_007294.3(BRCA1): c.2863_2867delTCATC (p.Ser956Valfs)deletionPathogenicrs80357819GRCh38Chr 17, 43092664: 43092668
79BRCA1NM_007294.3(BRCA1): c.2868delT (p.Gln957Serfs)deletionPathogenicrs80357929GRCh37Chr 17, 41244680: 41244680
80BRCA1NM_007294.3(BRCA1): c.2871_2872insA (p.Phe958Ilefs)insertionPathogenicrs80357693GRCh37Chr 17, 41244676: 41244677
81BRCA1NM_007294.3(BRCA1): c.2889_2890delTG (p.Gly964Thrfs)deletionPathogenicrs80357890GRCh37Chr 17, 41244658: 41244659
82BRCA1NM_007294.3(BRCA1): c.2995_2996delCTinsTA (p.Leu999Ter)indelPathogenicrs273899692GRCh38Chr 17, 43092534: 43092536
83BRCA1NM_007294.3(BRCA1): c.3016_3019delCATT (p.His1006Glnfs)deletionPathogenicrs80357994GRCh38Chr 17, 43092512: 43092515
84BRCA1NM_007294.3(BRCA1): c.3044dupG (p.Asn1016Lysfs)duplicationPathogenicrs80357746GRCh37Chr 17, 41244503: 41244504
85BRCA1NM_007294.3(BRCA1): c.3053_3054insTGAGA (p.Ile1019Glufs)insertionPathogenicrs80357547GRCh38Chr 17, 43092477: 43092478
86BRCA1NM_007294.3(BRCA1): c.3100_3101insTAACATTAGAGAAA (p.Asn1034Ilefs)insertionPathogenicrs80357967GRCh37Chr 17, 41244447: 41244448
87BRCA1NM_007294.3(BRCA1): c.3105dupT (p.Lys1037Terfs)duplicationPathogenicrs273899699GRCh38Chr 17, 43092426: 43092427
88BRCA1NM_007294.3(BRCA1): c.204dupA (p.Thr69Asnfs)duplicationPathogenicrs273898673GRCh37Chr 17, 41258481: 41258482
89BRCA1NM_007294.3(BRCA1): c.3114_3117delAGCCinsGA (p.Ala1039Lysfs)indelPathogenicrs273899700GRCh37Chr 17, 41244430: 41244434
90BRCA1U14680.1: n.3235_3238delCAGCdeletionPathogenic
91BRCA1NM_007294.3(BRCA1): c.3158_3159insG (p.Val1054Serfs)insertionPathogenicrs80357769GRCh38Chr 17, 43092372: 43092373
92BRCA1U14680.1: n.331+1G> A,del22deletionPathogenic
93BRCA1NM_007294.3(BRCA1): c.3194_3195insG (p.Asp1065Glufs)insertionPathogenicrs80357883GRCh37Chr 17, 41244353: 41244354
94BRCA1NM_007294.3(BRCA1): c.213-3C> Gsingle nucleotide variantPathogenicrs80358119GRCh37Chr 17, 41256976: 41256976
95BRCA1NM_007294.3(BRCA1): c.3256_3257insGA (p.Leu1086Terfs)insertionPathogenicrs80357764GRCh38Chr 17, 43092274: 43092275
96BRCA1NM_007294.3: c.3288_3289ins46insertionPathogenicGRCh38Chr 17, 43092242: 43092243
97BRCA1NM_007294.3(BRCA1): c.3320_3323delAAAT (p.Ile1108Lysfs)deletionPathogenicrs80357763GRCh37Chr 17, 41244225: 41244228
98BRCA1NM_007294.3(BRCA1): c.3328_3331delAAGC (p.Gln1111Asnfs)deletionPathogenicrs80357777GRCh37Chr 17, 41244217: 41244220
99BRCA1NM_007294.3(BRCA1): c.3329_3332delAGCA (p.Gln1111Asnfs)deletionPathogenicrs80357701GRCh38Chr 17, 43092199: 43092202
100BRCA1NM_007294.3(BRCA1): c.3330_3331insA (p.Gln1111Thrfs)insertionPathogenicrs80357996GRCh38Chr 17, 43092200: 43092201
101BRCA1NM_007294.3(BRCA1): c.3351dupT (p.Gln1118Serfs)duplicationPathogenicrs80357785GRCh37Chr 17, 41244196: 41244197
102BRCA1NM_007294.3(BRCA1): c.3357delT (p.Val1120Leufs)deletionPathogenicrs80357827GRCh37Chr 17, 41244191: 41244191
103BRCA1NM_007294.3(BRCA1): c.3462dupA (p.Asp1155Argfs)duplicationPathogenicrs80357857GRCh38Chr 17, 43092068: 43092069
104BRCA1NM_007294.3(BRCA1): c.3479_3489delAGGAAGATACT (p.Glu1161Phefs)deletionPathogenicrs80357910GRCh38Chr 17, 43092042: 43092052
105BRCA1NM_007294.3: c.3516_3517ins100insertionPathogenicGRCh38Chr 17, 43092014: 43092015
106BRCA1NM_007294.3(BRCA1): c.3548_3549delAA (p.Lys1183Argfs)deletionPathogenicrs80357956GRCh38Chr 17, 43091982: 43091983
107BRCA1NM_007294.3: c.3571_3572ins4insertionPathogenicGRCh37Chr 17, 41243976: 41243977
108BRCA1NM_007294.3(BRCA1): c.3581delC (p.His1195Ilefs)deletionPathogenicrs273900710GRCh37Chr 17, 41243967: 41243967
109BRCA1U14680.1: n.3702delAdeletionPathogenic
110BRCA1NM_007294.3(BRCA1): c.3593_3594insTT (p.Leu1198Phefs)insertionPathogenicrs80357562GRCh38Chr 17, 43091937: 43091938
111BRCA1NM_007294.3(BRCA1): c.3620dupA (p.Lys1208Glufs)duplicationPathogenicrs80357926GRCh38Chr 17, 43091910: 43091911
112BRCA1NM_007294.3(BRCA1): c.3623dupA (p.Leu1209Ilefs)duplicationPathogenicrs80357512GRCh38Chr 17, 43091908: 43091909
113BRCA1NM_007294.3(BRCA1): c.3649_3650insA (p.Ser1217Tyrfs)insertionPathogenicrs80357831GRCh38Chr 17, 43091881: 43091882
114BRCA1NM_007294.3(BRCA1): c.3755_3758delTGTC (p.Ser1253Argfs)deletionPathogenicrs80357963GRCh38Chr 17, 43091773: 43091776
115BRCA1NM_007294.3(BRCA1): c.3761_3762delAG (p.Asn1255Hisfs)deletionPathogenicrs80357645GRCh38Chr 17, 43091769: 43091770
116BRCA1NM_007294.3(BRCA1): c.3766dupA (p.Thr1256Asnfs)duplicationPathogenicrs80357704GRCh38Chr 17, 43091764: 43091765
117BRCA1NM_007294.3(BRCA1): c.3771_3772delGG (p.Asn1259Phefs)deletionPathogenicrs80357810GRCh38Chr 17, 43091759: 43091760
118BRCA1NM_007294.3(BRCA1): c.3777delT (p.Leu1260Tyrfs)deletionPathogenicrs80357798GRCh38Chr 17, 43091754: 43091754
119BRCA1NM_007294.3(BRCA1): c.3778_3779insA (p.Leu1260Tyrfs)insertionPathogenicrs80357849GRCh38Chr 17, 43091752: 43091753
120BRCA1NM_007294.3(BRCA1): c.3830dupC (p.Ala1279Glyfs)duplicationPathogenicrs80357878GRCh38Chr 17, 43091700: 43091701
121BRCA1NM_007294.3(BRCA1): c.3856_3859delAGTG (p.Ser1286Argfs)deletionPathogenicrs80357842GRCh37Chr 17, 41243689: 41243692
122BRCA1NM_007294.3(BRCA1): c.3867_3871delAAAAT (p.Lys1290Phefs)deletionPathogenicrs80357560GRCh38Chr 17, 43091660: 43091664
123BRCA1NM_007294.3(BRCA1): c.3908dupT (p.Leu1303Phefs)duplicationPathogenicrs80357634GRCh37Chr 17, 41243639: 41243640
124BRCA1NM_007294.3: c.288_292delCACAGins7indelPathogenicGRCh37Chr 17, 41256894: 41256898
125BRCA1NM_007294.3: c.301+2_301+3insTinsertionPathogenicrs273899694GRCh38Chr 17, 43104865: 43104866
126BRCA1NM_007294.3(BRCA1): c.302-1G> Tsingle nucleotide variantPathogenicrs80358116GRCh38Chr 17, 43104262: 43104262
127BRCA1NM_007294.3(BRCA1): c.302-2A> Tsingle nucleotide variantPathogenicrs80358011GRCh37Chr 17, 41256280: 41256280
128BRCA1NM_007294.3: c.302-2_302-1delAGdeletionPathogenicGRCh38Chr 17, 43104262: 43104263
129BRCA1NM_007294.3(BRCA1): c.4110_4111delTG (p.Gly1371Valfs)deletionPathogenicrs80357529GRCh37Chr 17, 41243035: 41243036
130BRCA1NM_007294.3(BRCA1): c.4111_4112insATCT (p.Gly1371Aspfs)insertionPathogenicrs80357935GRCh38Chr 17, 43091017: 43091018
131BRCA1NM_007294.3(BRCA1): c.4113delG (p.Cys1372Valfs)deletionPathogenicrs80357861GRCh37Chr 17, 41243033: 41243033
132BRCA1NM_007294.3(BRCA1): c.4128_4129delAA (p.Ser1377Argfs)deletionPathogenicrs80357921GRCh38Chr 17, 43091000: 43091001
133BRCA1NM_007294.3(BRCA1): c.4163dupA (p.Ser1389Glufs)duplicationPathogenicrs80357788GRCh37Chr 17, 41242982: 41242983
134BRCA1NM_007294.3(BRCA1): c.4167_4168insAG (p.Asp1390Argfs)insertionPathogenicrs80357847GRCh37Chr 17, 41242978: 41242979
135BRCA1U14680.1: n.4304+2_4304+22del21insAinsertionPathogenic
136BRCA1U14680.1: n.4305-1643_del3835deletionPathogenic
137BRCA1NM_007294.3(BRCA1): c.4214delT (p.Ile1405Lysfs)deletionPathogenicrs273900728GRCh38Chr 17, 43082547: 43082547
138BRCA1NM_007294.3(BRCA1): c.4285_4286insG (p.Tyr1429Terfs)insertionPathogenicrs80357716GRCh38Chr 17, 43082475: 43082476
139BRCA1NM_007294.3(BRCA1): c.4289dupC (p.Ser1431Phefs)duplicationPathogenicrs80357556GRCh37Chr 17, 41234488: 41234489
140BRCA1NM_007294.3: c.4338_4339ins4insertionPathogenicrs397509164GRCh38Chr 17, 43082422: 43082423
141BRCA1NM_007294.3(BRCA1): c.4372_4388del17 (p.Gln1458Profs)deletionPathogenicrs80359885GRCh38Chr 17, 43076584: 43076600
142BRCA1NM_007294.3(BRCA1): c.4463dupA (p.Asn1488Lysfs)duplicationPathogenicrs80357620GRCh38Chr 17, 43076508: 43076509
143BRCA1NM_007294.3(BRCA1): c.4594_4595insTC (p.Asp1533Leufs)insertionPathogenicrs80357826GRCh38Chr 17, 43074411: 43074412
144BRCA1NM_007294.3: c.4644_4645ins8insertionPathogenicGRCh37Chr 17, 41226378: 41226379
145BRCA1NM_007294.3(BRCA1): c.4675+3A> Tsingle nucleotide variantPathogenicrs80358082GRCh37Chr 17, 41226345: 41226345
146BRCA1NM_007294.3(BRCA1): c.4676-1G> Asingle nucleotide variantPathogenicrs80358008GRCh37Chr 17, 41223256: 41223256
147BRCA1NM_007294.3(BRCA1): c.4676-2A> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs80358096GRCh37Chr 17, 41223257: 41223257
148BRCA1NM_007294.3(BRCA1): c.4696_4697insA (p.Ser1566Tyrfs)insertionPathogenicGRCh37Chr 17, 41223234: 41223235
149BRCA1NM_007294.3(BRCA1): c.4764_4765delTC (p.Arg1589Cysfs)deletionPathogenicrs80357795GRCh37Chr 17, 41223166: 41223167
150BRCA1NM_007294.3(BRCA1): c.4843dupG (p.Ala1615Glyfs)duplicationPathogenicrs80357615GRCh37Chr 17, 41223087: 41223088
151BRCA1NM_007294.3(BRCA1): c.4891dupA (p.Ser1631Lysfs)duplicationPathogenicrs80357656GRCh37Chr 17, 41223039: 41223040
152BRCA1NM_007294.3(BRCA1): c.4933_4934insAA (p.Arg1645Lysfs)insertionPathogenicrs80357833GRCh37Chr 17, 41222997: 41222998
153BRCA1NM_007294.3(BRCA1): c.4934delG (p.Val1646Serfs)deletionPathogenicrs80357653GRCh38Chr 17, 43070980: 43070980
154BRCA1NM_007294.3(BRCA1): c.4942delA (p.Arg1649Glufs)deletionPathogenicrs80357761GRCh38Chr 17, 43070972: 43070972
155BRCA1NM_007294.3(BRCA1): c.4944_4945delAA (p.Arg1649Asnfs)deletionPathogenicrs80357655GRCh37Chr 17, 41222986: 41222987
156BRCA1NM_007294.3(BRCA1): c.4986+1G> Asingle nucleotide variantPathogenicrs80358162GRCh38Chr 17, 43070927: 43070927
157BRCA1U14680.1: n.5106-1A> Gsingle nucleotide variantPathogenic
158BRCA1NM_007294.3: c.5007_5008ins13insertionPathogenicGRCh38Chr 17, 43067674: 43067675
159BRCA1NM_007294.3(BRCA1): c.5027_5030delTAAC (p.Thr1677Ilefs)deletionPathogenicrs80357580GRCh37Chr 17, 41219669: 41219672
160BRCA1NM_007294.3(BRCA1): c.5028_5031delAACT (p.Thr1677Ilefs)deletionPathogenicrs80357924GRCh38Chr 17, 43067651: 43067654
161BRCA1NM_007294.3: c.5033_5034ins4insertionPathogenicGRCh38Chr 17, 43067648: 43067649
162BRCA1NM_007294.3(BRCA1): c.5056dupC (p.His1686Profs)duplicationPathogenicrs80357974GRCh38Chr 17, 43067625: 43067626
163BRCA1NM_007294.3(BRCA1): c.398_399delGT (p.Ala134Glnfs)deletionPathogenicrs80357568GRCh38Chr 17, 43104164: 43104165
164BRCA1NM_007294.3(BRCA1): c.5075-1G> Csingle nucleotide variantPathogenicrs1800747GRCh38Chr 17, 43063952: 43063952
165BRCA1NM_007294.3(BRCA1): c.5098delA (p.Thr1700Hisfs)deletionPathogenicGRCh38Chr 17, 43063928: 43063928
166BRCA1NM_007294.3(BRCA1): c.5145delC (p.Tyr1716Ilefs)deletionPathogenicrs80357870GRCh38Chr 17, 43063881: 43063881
167BRCA1U14680.1: n.5271+1G> Asingle nucleotide variantPathogenic
168BRCA1U14680.1: n.5271+3_5271+4insTinsertionPathogenic
169BRCA1U14680.1: n.5272-2delAdeletionPathogenic
170BRCA1NM_007294.3(BRCA1): c.5173_5176delGAAA (p.Arg1726Lysfs)deletionPathogenicrs80357867GRCh37Chr 17, 41215367: 41215370
171BRCA1U14680.1: n.5312+1G> Csingle nucleotide variantPathogenic
172BRCA1U14680.1: n.5312+2delTdeletionPathogenic
173BRCA1U14680.1: n.5312+3_del13deletionPathogenic
174BRCA1U14680.1: n.5313-1G> Asingle nucleotide variantPathogenicrs80358173GRCh37Chr 17, 41209153: 41209153
175BRCA1NM_007294.3(BRCA1): c.5241delA (p.Gly1748Valfs)deletionPathogenicrs80357791GRCh38Chr 17, 43057088: 43057088
176BRCA1U14680.1: n.5389_5395delCAGAAAGdeletionPathogenic
177BRCA1U14680.1: n.5396+1_del6deletionPathogenic
178BRCA1NM_007294.3(BRCA1): c.5286dupG (p.Leu1764Alafs)duplicationPathogenicrs80357886GRCh38Chr 17, 43051109: 43051110
179BRCA1NM_007294.3(BRCA1): c.5304delC (p.Tyr1769Metfs)deletionPathogenicrs80357959GRCh37Chr 17, 41203108: 41203108
180BRCA1NM_007294.3(BRCA1): c.5308delG (p.Phe1772Serfs)deletionPathogenicrs80357581GRCh38Chr 17, 43051087: 43051087
181BRCA1U14680.1: n.5430_5452del23deletionPathogenic
182BRCA1NM_007294.3(BRCA1): c.5332+2T> Asingle nucleotide variantPathogenicrs80358182GRCh38Chr 17, 43051061: 43051061
183BRCA1U14680.1: n.5452-36_del510deletionPathogenic
184BRCA1NM_007294.3(BRCA1): c.5352dupA (p.Gln1785Thrfs)duplicationPathogenicrs80357744GRCh37Chr 17, 41201191: 41201192
185BRCA1NM_007294.3(BRCA1): c.5370_5397del28 (p.Val1791Leufs)deletionPathogenicrs80359878GRCh38Chr 17, 43049130: 43049157
186BRCA1NM_007294.3(BRCA1): c.5384dupT (p.Ser1796Phefs)duplicationPathogenicrs80357838GRCh37Chr 17, 41201160: 41201161
187BRCA1U14680.1: n.5525+2delTdeletionPathogenic
188BRCA1NM_007294.3(BRCA1): c.5407-1G> Asingle nucleotide variantPathogenicrs80358029GRCh38Chr 17, 43047704: 43047704
189BRCA1NM_007294.3(BRCA1): c.5407-1G> Csingle nucleotide variantPathogenicrs80358029GRCh37Chr 17, 41199721: 41199721
190BRCA1NM_007294.3(BRCA1): c.5407-2A> Tsingle nucleotide variantPathogenicrs80358002GRCh37Chr 17, 41199722: 41199722
191BRCA1NM_007294.3(BRCA1): c.5418delA (p.Ile1807Leufs)deletionPathogenicrs80357934GRCh38Chr 17, 43047692: 43047692
192BRCA1NM_007294.3(BRCA1): c.5467+2T> Csingle nucleotide variantPathogenicrs80358009GRCh38Chr 17, 43047641: 43047641
193BRCA1NM_007294.3(BRCA1): c.5467+2T> Gsingle nucleotide variantPathogenicrs80358009GRCh38Chr 17, 43047641: 43047641
194BRCA1NM_007294.3(BRCA1): c.5468-1G> Asingle nucleotide variantPathogenicrs80358048GRCh37Chr 17, 41197820: 41197820
195BRCA1NM_007294.3(BRCA1): c.5468-40T> Asingle nucleotide variantPathogenicrs80358151GRCh38Chr 17, 43045842: 43045842
196BRCA1NM_007294.3(BRCA1): c.5490delA (p.Pro1831Leufs)deletionPathogenicrs80357976GRCh37Chr 17, 41197797: 41197797
197BRCA1NM_007294.3(BRCA1): c.442-2A> Csingle nucleotide variantPathogenicrs80358155GRCh38Chr 17, 43099882: 43099882
198BRCA1NM_007294.3(BRCA1): c.5498_5511delTGACCCGAGAGTGG (p.Val1833Glyfs)deletionPathogenicrs80359873GRCh37Chr 17, 41197776: 41197789
199BRCA1NM_007294.3(BRCA1): c.5510delG (p.Val1838Cysfs)deletionPathogenicrs80357839GRCh38Chr 17, 43045760: 43045760
200BRCA1L824Xsingle nucleotide variantPathogenic
201BRCA1NM_007294.3: c.5534_5539delACCAGTins20indelPathogenicGRCh37Chr 17, 41197748: 41197753
202BRCA1NM_007294.3(BRCA1): c.5563delAins6indelPathogenicGRCh38Chr 17, 43045707: 43045707
203BRCA1NM_007294.3(BRCA1): c.456_457delCA (p.Ser153Cysfs)deletionPathogenicrs80357882GRCh37Chr 17, 41251882: 41251883
204BRCA1NM_007294.3(BRCA1): c.464delA (p.Gln155Hisfs)deletionPathogenicGRCh38Chr 17, 43099858: 43099858
205BRCA1NM_007294.3(BRCA1): c.547+1G> Asingle nucleotide variantPathogenicrs80358030GRCh38Chr 17, 43099774: 43099774
206BRCA1NM_007294.3: c.625_626ins20insertionPathogenicGRCh38Chr 17, 43095890: 43095891
207BRCA1NM_007294.3(BRCA1): c.668dupA (p.Ala224Glyfs)duplicationPathogenicrs80357537GRCh38Chr 17, 43095847: 43095848
208BRCA1NM_007294.3(BRCA1): c.671-1G> Tsingle nucleotide variantLikely pathogenic, Pathogenicrs80358020GRCh38Chr 17, 43094861: 43094861
209BRCA1NM_007294.3(BRCA1): c.797_798delTT (p.Ser267Lysfs)deletionPathogenicrs80357789GRCh37Chr 17, 41246750: 41246751
210BRCA1NM_007294.3: c.807_808ins11insertionPathogenicGRCh38Chr 17, 43094723: 43094724
211BRCA1NM_007294.3(BRCA1): c.833_834insA (p.His279Serfs)insertionPathogenicGRCh37Chr 17, 41246714: 41246715
212BRCA1NM_007294.3(BRCA1): c.842_843insAG (p.Ser281Argfs)insertionPathogenicrs80357792GRCh38Chr 17, 43094688: 43094689
213BRCA1NM_007294.3: c.851_852ins7insertionPathogenicGRCh38Chr 17, 43094679: 43094680
214BRCA1NM_007294.3(BRCA1): c.190T> G (p.Cys64Gly)single nucleotide variantPathogenicrs80357064GRCh37Chr 17, 41258495: 41258495
215BRCA1NM_007294.3(BRCA1): c.181T> G (p.Cys61Gly)single nucleotide variantPathogenicrs28897672GRCh37Chr 17, 41258504: 41258504
216BRCA1NM_007294.3(BRCA1): c.68_69delAG (p.Glu23Valfs)deletionPathogenic, risk factorrs80357713GRCh37Chr 17, 41276047: 41276048
217BRCA1BRCA1, 59-BP INSinsertionPathogenic
218BRCA1NM_007294.3(BRCA1): c.1011dupA (p.Val340Glyfs)duplicationPathogenicrs80357563GRCh37Chr 17, 41246537: 41246538
219BRCA1NM_007294.3(BRCA1): c.1175_1214del40 (p.Leu392Glnfs)deletionLikely pathogenic, Pathogenicrs80359874GRCh37Chr 17, 41246334: 41246373
220BRCA1NM_007294.3(BRCA1): c.2296_2297delAG (p.Ser766Terfs)deletionPathogenicrs80357780GRCh37Chr 17, 41245251: 41245252
221BRCA1NM_007294.3(BRCA1): c.2681_2682delAA (p.Lys894Thrfs)deletionPathogenicrs80357971GRCh37Chr 17, 41244866: 41244867
222BRCA1NM_007294.3(BRCA1): c.2743_2744delTC (p.Ser915Terfs)deletionPathogenicrs80357540GRCh37Chr 17, 41244804: 41244805
223BRCA1NM_007294.3(BRCA1): c.3005delA (p.Asn1002Thrfs)deletionPathogenicrs80357601GRCh38Chr 17, 43092526: 43092526
224BRCA1NM_007294.3(BRCA1): c.3607C> T (p.Arg1203Ter)single nucleotide variantPathogenicrs62625308GRCh37Chr 17, 41243941: 41243941
225BRCA1NM_007294.3(BRCA1): c.3748G> T (p.Glu1250Ter)single nucleotide variantPathogenicrs28897686GRCh37Chr 17, 41243800: 41243800
226BRCA1NM_007294.3(BRCA1): c.3756_3759delGTCT (p.Ser1253Argfs)deletionPathogenicrs80357868GRCh37Chr 17, 41243789: 41243792
227BRCA1NM_007294.3(BRCA1): c.4065_4068delTCAA (p.Asn1355Lysfs)deletionPathogenicrs80357508GRCh37Chr 17, 41243480: 41243483
228BRCA1NM_007294.3(BRCA1): c.4327C> T (p.Arg1443Ter)single nucleotide variantPathogenicrs41293455GRCh37Chr 17, 41234451: 41234451
229BRCA1NM_007294.3(BRCA1): c.5266dupC (p.Gln1756Profs)duplicationPathogenic, risk factorrs80357906GRCh37Chr 17, 41209083: 41209083
230BRCA1NM_007294.3(BRCA1): c.4966_4984del19 (p.Gly1656Leufs)deletionPathogenicrs80359884GRCh37Chr 17, 41222947: 41222965
231BRCA1NM_007294.3(BRCA1): c.2389G> T (p.Glu797Ter)single nucleotide variantPathogenicrs62625306GRCh37Chr 17, 41245159: 41245159
232BRCA1NM_007294.3(BRCA1): c.843_846delCTCA (p.Ser282Tyrfs)deletionPathogenicrs80357919GRCh37Chr 17, 41246702: 41246705
233BRCA1NM_007294.3(BRCA1): c.3481_3491delGAAGATACTAG (p.Glu1161Phefs)deletionPathogenicrs80357877GRCh37Chr 17, 41244057: 41244067
234BRCA1NM_007294.3(BRCA1): c.1556delA (p.Lys519Argfs)deletionPathogenicrs80357662GRCh37Chr 17, 41245992: 41245992
235BRCA1NM_007294.3(BRCA1): c.3769_3770delGA (p.Glu1257Glyfs)deletionPathogenicrs80357579GRCh37Chr 17, 41243778: 41243779
236BRCA1BRCA1, 1-BP DEL, 4153AdeletionPathogenic
237BRCA1BRCA1, 16-KB INS, EX13insertionPathogenic
238BRCA1NM_007294.3(BRCA1): c.3625delT (p.Leu1209Terfs)deletionPathogenicrs387906564GRCh37Chr 17, 41243923: 41243923
239BRCA1NM_007294.3(BRCA1): c.211A> G (p.Arg71Gly)single nucleotide variantPathogenicrs80357382GRCh37Chr 17, 41258474: 41258474
240BRCA1NM_007294.3(BRCA1): c.5324T> G (p.Met1775Arg)single nucleotide variantPathogenicrs41293463GRCh37Chr 17, 41203088: 41203088
241BRCA1NM_007294.3(BRCA1): c.5324T> A (p.Met1775Lys)single nucleotide variantLikely pathogenic, Pathogenicrs41293463GRCh37Chr 17, 41203088: 41203088
242BRCA1NM_007294.3(BRCA1): c.1016delA (p.Lys339Argfs)deletionPathogenicrs80357618GRCh37Chr 17, 41246532: 41246532
243BRCA1NM_007294.3(BRCA1): c.1018delG (p.Val340Terfs)deletionPathogenicrs80357774GRCh37Chr 17, 41246530: 41246530
244BRCA1NM_007294.3(BRCA1): c.1121delC (p.Thr374Asnfs)deletionPathogenicrs80357612GRCh37Chr 17, 41246427: 41246427
245BRCA1NM_007294.3(BRCA1): c.116G> A (p.Cys39Tyr)single nucleotide variantPathogenicrs80357498GRCh37Chr 17, 41267761: 41267761
246BRCA1NM_007294.3(BRCA1): c.116G> T (p.Cys39Phe)single nucleotide variantPathogenicrs80357498GRCh37Chr 17, 41267761: 41267761
247BRCA1NM_007294.3(BRCA1): c.1175_1215del41 (p.Leu392Glnfs)deletionPathogenicrs397507180GRCh37Chr 17, 41246333: 41246373
248BRCA1NM_007294.3(BRCA1): c.1175_1216del42 (p.Leu392_Asn406delinsHis)deletionPathogenicrs397507181GRCh37Chr 17, 41246332: 41246373
249BRCA1NM_007294.3(BRCA1): c.1175_1217del43 (p.Leu393Profs)deletionPathogenicrs397507182GRCh37Chr 17, 41246331: 41246373
250BRCA1NM_007294.3(BRCA1): c.1175_1218del44 (p.Leu392Argfs)deletionPathogenicrs397507183GRCh37Chr 17, 41246330: 41246373
251BRCA1NM_007294.3(BRCA1): c.134+5G> Csingle nucleotide variantLikely pathogenicrs80358038GRCh37Chr 17, 41267738: 41267738
252BRCA1NM_007294.3(BRCA1): c.1340_1341insG (p.His448Serfs)insertionPathogenicrs80357597GRCh37Chr 17, 41246207: 41246208
253BRCA1NM_007294.3(BRCA1): c.135-1G> Tsingle nucleotide variantPathogenicrs80358158GRCh37Chr 17, 41258551: 41258551
254BRCA1NM_007294.3(BRCA1): c.1360_1361delAG (p.Ser454Terfs)deletionPathogenicrs80357969GRCh37Chr 17, 41246187: 41246188
255BRCA1NM_007294.3: c.1387_1390delAAAAins5indelPathogenicrs397508866GRCh37Chr 17, 41246158: 41246161
256BRCA1NM_007294.3(BRCA1): c.1389_1390delAAinsG (p.Thr464Profs)indelPathogenicrs273897659GRCh37Chr 17, 41246158: 41246159
257BRCA1NM_007294.3(BRCA1): c.143delT (p.Met48Serfs)deletionPathogenicrs80357637GRCh37Chr 17, 41258542: 41258542
258BRCA1NM_007294.3(BRCA1): c.1444_1447delATTA (p.Ile482Terfs)deletionPathogenicrs80357801GRCh37Chr 17, 41246101: 41246104
259BRCA1NM_007294.3(BRCA1): c.1480C> T (p.Gln494Ter)single nucleotide variantPathogenicrs80357010GRCh37Chr 17, 41246068: 41246068
260BRCA1NM_007294.3(BRCA1): c.1504_1508delTTAAA (p.Leu502Alafs)deletionPathogenicrs80357888GRCh37Chr 17, 41246040: 41246044
261BRCA1NM_007294.3(BRCA1): c.1510delC (p.Arg504Valfs)deletionPathogenicrs80357908GRCh37Chr 17, 41246038: 41246038
262BRCA1NM_007294.3(BRCA1): c.1674delA (p.Gly559Valfs)deletionPathogenicrs80357600GRCh37Chr 17, 41245874: 41245874
263BRCA1NM_007294.3(BRCA1): c.1687C> T (p.Gln563Ter)single nucleotide variantPathogenicrs80356898GRCh37Chr 17, 41245861: 41245861
264BRCA1NM_007294.3(BRCA1): c.1728dupA (p.Glu577Argfs)duplicationPathogenicrs397507192GRCh37Chr 17, 41245819: 41245820
265BRCA1NM_007294.3(BRCA1): c.1854delG (p.Arg618Serfs)deletionPathogenicrs397507193GRCh37Chr 17, 41245694: 41245694
266BRCA1NM_007294.3: c.1877_1878ins4insertionPathogenicGRCh37Chr 17, 41245670: 41245671
267BRCA1NM_007294.3(BRCA1): c.1921dupA (p.Ile641Asnfs)duplicationPathogenicrs397507194GRCh37Chr 17, 41245626: 41245627
268BRCA1NM_007294.3(BRCA1): c.1953_1956delGAAA (p.Lys653Serfs)deletionPathogenicrs80357526GRCh37Chr 17, 41245592: 41245595
269BRCA1NM_007294.3(BRCA1): c.1960A> T (p.Lys654Ter)single nucleotide variantPathogenicrs80357355GRCh37Chr 17, 41245588: 41245588
270BRCA1NM_007294.3(BRCA1): c.1961delA (p.Lys654Serfs)deletionPathogenicrs80357522GRCh37Chr 17, 41245587: 41245587
271BRCA1NM_007294.3(BRCA1): c.1972delA (p.Met658Cysfs)deletionPathogenicrs397507195GRCh37Chr 17, 41245576: 41245576
272BRCA1NM_007294.3(BRCA1): c.2071delA (p.Arg691Aspfs)deletionPathogenicrs80357688GRCh37Chr 17, 41245477: 41245477
273BRCA1NM_007294.3(BRCA1): c.2105dupT (p.Leu702Phefs)duplicationPathogenicrs80357880GRCh37Chr 17, 41245442: 41245443
274BRCA1NM_007294.3(BRCA1): c.212+1G> Asingle nucleotide variantPathogenicrs80358042GRCh37Chr 17, 41258472: 41258472
275BRCA1NM_007294.3: c.2125_2126ins3insertionPathogenicGRCh37Chr 17, 41245422: 41245423
276BRCA1NM_007294.3(BRCA1): c.213-11T> Gsingle nucleotide variantPathogenicrs80358061GRCh37Chr 17, 41256984: 41256984
277BRCA1NM_007294.3(BRCA1): c.213-12A> Gsingle nucleotide variantPathogenicrs80358163GRCh37Chr 17, 41256985: 41256985
278BRCA1NM_007294.3(BRCA1): c.2138C> G (p.Ser713Ter)single nucleotide variantPathogenicrs80357233GRCh37Chr 17, 41245410: 41245410
279BRCA1NM_007294.3(BRCA1): c.2158G> T (p.Glu720Ter)single nucleotide variantPathogenicrs80356875GRCh37Chr 17, 41245390: 41245390
280BRCA1NM_007294.3(BRCA1): c.2210_2211delCA (p.Thr737Serfs)deletionPathogenicrs80357654GRCh37Chr 17, 41245337: 41245338
281BRCA1NM_007294.3(BRCA1): c.2214_2215insTT (p.Lys739Leufs)insertionPathogenicrs397507197GRCh37Chr 17, 41245333: 41245334
282BRCA1NM_007294.3(BRCA1): c.2269delG (p.Val757Phefs)deletionPathogenicrs80357583GRCh37Chr 17, 41245279: 41245279
283BRCA1NM_007294.3(BRCA1): c.2299delA (p.Ser767Alafs)deletionPathogenicrs80357786GRCh37Chr 17, 41245249: 41245249
284BRCA1NM_007294.3(BRCA1): c.2411_2412delAG (p.Gln804Leufs)deletionPathogenicrs80357664GRCh37Chr 17, 41245136: 41245137
285BRCA1NM_007294.3(BRCA1): c.2424delT (p.Phe808Leufs)deletionPathogenicrs397507200GRCh37Chr 17, 41245124: 41245124
286BRCA1NM_007294.3(BRCA1): c.2433delC (p.Lys812Argfs)deletionPathogenicrs80357524GRCh37Chr 17, 41245115: 41245115
287BRCA1NM_007294.3(BRCA1): c.2457delC (p.Asp821Ilefs)deletionPathogenicrs80357669GRCh37Chr 17, 41245091: 41245091
288BRCA1NM_007294.3(BRCA1): c.2475delC (p.Asp825Glufs)deletionPathogenicrs80357970GRCh37Chr 17, 41245073: 41245073
289BRCA1NM_007294.3(BRCA1): c.2515delC (p.His839Thrfs)deletionPathogenicrs80357607GRCh37Chr 17, 41245033: 41245033
290BRCA1NM_007294.3(BRCA1): c.2563C> T (p.Gln855Ter)single nucleotide variantPathogenicrs80357131GRCh37Chr 17, 41244985: 41244985
291BRCA1NM_007294.3(BRCA1): c.2603C> G (p.Ser868Ter)single nucleotide variantPathogenicrs80356925GRCh37Chr 17, 41244945: 41244945
292BRCA1NM_007294.3(BRCA1): c.2635G> T (p.Glu879Ter)single nucleotide variantPathogenicrs80357251GRCh37Chr 17, 41244913: 41244913
293BRCA1NM_007294.3(BRCA1): c.2677A> T (p.Lys893Ter)single nucleotide variantPathogenicrs80357170GRCh37Chr 17, 41244871: 41244871
294BRCA1NM_007294.3(BRCA1): c.2679_2682delGAAA (p.Lys893Asnfs)deletionPathogenicrs80357596GRCh37Chr 17, 41244866: 41244869
295BRCA1NM_007294.3(BRCA1): c.2707_2708insAT (p.Cys903Tyrfs)insertionPathogenicrs80357717GRCh37Chr 17, 41244840: 41244841
296BRCA1NM_007294.3(BRCA1): c.2710G> T (p.Glu904Ter)single nucleotide variantPathogenicrs80357035GRCh37Chr 17, 41244838: 41244838
297BRCA1NM_007294.3(BRCA1): c.2806_2809delGATA (p.Asp936Serfs)deletionPathogenicrs80357832GRCh37Chr 17, 41244739: 41244742
298BRCA1NM_007294.3(BRCA1): c.2864_2865insT (p.Ser956Ilefs)insertionPathogenicrs397507205GRCh37Chr 17, 41244683: 41244684
299BRCA1NM_007294.3(BRCA1): c.2934T> G (p.Tyr978Ter)single nucleotide variantPathogenicrs80357115GRCh37Chr 17, 41244614: 41244614
300BRCA1NM_007294.3(BRCA1): c.2981_2982delGT (p.Cys994Terfs)deletionPathogenicrs397507207GRCh37Chr 17, 41244566: 41244567
301BRCA1NM_007294.3(BRCA1): c.2990_2991insAA (p.Asn997Lysfs)insertionPathogenicrs80357829GRCh37Chr 17, 41244557: 41244558
302BRCA1NM_007294.3(BRCA1): c.302-2A> Csingle nucleotide variantPathogenicrs80358011GRCh37Chr 17, 41256280: 41256280
303BRCA1NM_007294.3(BRCA1): c.302-3C> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs80358051GRCh37Chr 17, 41256281: 41256281
304BRCA1NM_007294.3(BRCA1): c.3037_3038delGA (p.Glu1013Asnfs)deletionPathogenicrs397507208GRCh37Chr 17, 41244510: 41244511
305BRCA1NM_007294.3: c.3052_3053ins5insertionPathogenicGRCh37Chr 17, 41244495: 41244496
306BRCA1NM_007294.3(BRCA1): c.3112G> T (p.Glu1038Ter)single nucleotide variantPathogenicrs80357161GRCh37Chr 17, 41244436: 41244436
307BRCA1NM_007294.3: c.3164_3165ins4insertionPathogenicGRCh37Chr 17, 41244383: 41244384
308BRCA1NM_007294.3(BRCA1): c.3174delT (p.Asn1059Metfs)deletionPathogenicrs397507210GRCh37Chr 17, 41244374: 41244374
309BRCA1NM_007294.3(BRCA1): c.3228_3229delAG (p.Gly1077Alafs)deletionPathogenicrs80357635GRCh37Chr 17, 41244319: 41244320
310BRCA1NM_007294.3(BRCA1): c.3255_3256insGA (p.Leu1086Aspfs)insertionPathogenicrs80357624GRCh37Chr 17, 41244292: 41244293
311BRCA1NM_007294.3(BRCA1): c.329delA (p.Lys110Argfs)deletionPathogenicrs397507214GRCh37Chr 17, 41256251: 41256251
312BRCA1NM_007294.3(BRCA1): c.3331_3334delCAAG (p.Gln1111Asnfs)deletionPathogenicrs80357903GRCh37Chr 17, 41244214: 41244217
313BRCA1NM_007294.3(BRCA1): c.3352C> T (p.Gln1118Ter)single nucleotide variantPathogenicrs397507215GRCh37Chr 17, 41244196: 41244196
314BRCA1NM_007294.3(BRCA1): c.3358_3359delGT (p.Val1120Terfs)deletionPathogenicrs80357945GRCh37Chr 17, 41244189: 41244190
315BRCA1NM_007294.3(BRCA1): c.3389C> G (p.Ser1130Ter)single nucleotide variantPathogenicrs80357405GRCh37Chr 17, 41244159: 41244159
316BRCA1NM_007294.3(BRCA1): c.3400G> T (p.Glu1134Ter)single nucleotide variantPathogenicrs80357018GRCh37Chr 17, 41244148: 41244148
317BRCA1NM_007294.3(BRCA1): c.3442delG (p.Glu1148Argfs)deletionPathogenicrs80357808GRCh37Chr 17, 41244106: 41244106
318BRCA1NM_007294.3(BRCA1): c.3485delA (p.Asp1162Valfs)deletionPathogenicrs80357509GRCh37Chr 17, 41244063: 41244063
319BRCA1NM_007294.3(BRCA1): c.3503delA (p.Asn1168Metfs)deletionPathogenicrs397507216GRCh37Chr 17, 41244045: 41244045
320BRCA1NM_007294.3(BRCA1): c.3612delA (p.Ala1206Profs)deletionPathogenicrs80357980GRCh37Chr 17, 41243936: 41243936
321BRCA1NM_007294.3(BRCA1): c.3627dupA (p.Glu1210Argfs)duplicationPathogenicrs80357729GRCh37Chr 17, 41243920: 41243921
322BRCA1NM_007294.3(BRCA1): c.3648dupA (p.Ser1217Ilefs)duplicationPathogenicrs80357902GRCh37Chr 17, 41243899: 41243900
323BRCA1NM_007294.3: c.3671_3672ins4insertionPathogenicGRCh37Chr 17, 41243876: 41243877
324BRCA1NM_007294.3(BRCA1): c.3683delA (p.His1228Profs)deletionPathogenicrs397507217GRCh37Chr 17, 41243865: 41243865
325BRCA1NM_007294.3(BRCA1): c.3689T> G (p.Leu1230Ter)single nucleotide variantPathogenicrs80357162GRCh37Chr 17, 41243859: 41243859
326BRCA1NM_007294.3(BRCA1): c.3700_3704delGTAAA (p.Val1234Glnfs)deletionPathogenicrs80357609GRCh37Chr 17, 41243844: 41243848
327BRCA1NM_007294.3(BRCA1): c.3759_3760delTA (p.Lys1254Glufs)deletionPathogenicrs80357520GRCh37Chr 17, 41243788: 41243789
328BRCA1NM_007294.3(BRCA1): c.3764dupA (p.Asn1255Lysfs)duplicationPathogenicrs80357848GRCh37Chr 17, 41243783: 41243784
329BRCA1NM_007294.3(BRCA1): c.3770_3771delAG (p.Glu1257Glyfs)deletionPathogenicrs80357993GRCh37Chr 17, 41243777: 41243778
330BRCA1NM_007294.3(BRCA1): c.3771_3772delGGinsC (p.Glu1257Aspfs)indelPathogenicrs397507218GRCh37Chr 17, 41243776: 41243777
331BRCA1NM_007294.3(BRCA1): c.3825dupA (p.Leu1276Ilefs)duplicationPathogenicrs397507220GRCh37Chr 17, 41243722: 41243723
332BRCA1NM_007294.3(BRCA1): c.3852_3853insAC (p.Leu1285Thrfs)insertionPathogenicrs397507221GRCh37Chr 17, 41243695: 41243696
333BRCA1NM_007294.3(BRCA1): c.3852delC (p.Ser1286Valfs)deletionPathogenicrs397507222GRCh37Chr 17, 41243696: 41243696
334BRCA1NM_007294.3(BRCA1): c.3858_3861delTGAG (p.Ser1286Argfs)deletionPathogenicrs80357889GRCh37Chr 17, 41243687: 41243690
335BRCA1NM_007294.3(BRCA1): c.3868A> T (p.Lys1290Ter)single nucleotide variantPathogenicrs80357254GRCh37Chr 17, 41243680: 41243680
336BRCA1NM_007294.3(BRCA1): c.3937C> T (p.Gln1313Ter)single nucleotide variantPathogenicrs80357318GRCh37Chr 17, 41243611: 41243611
337BRCA1NM_007294.3(BRCA1): c.3991C> T (p.Gln1331Ter)single nucleotide variantPathogenicrs397507224GRCh37Chr 17, 41243557: 41243557
338BRCA1NM_007294.3(BRCA1): c.4015G> T (p.Glu1339Ter)single nucleotide variantPathogenicrs80357021GRCh37Chr 17, 41243533: 41243533
339BRCA1NM_007294.3(BRCA1): c.4035delA (p.Glu1346Lysfs)deletionPathogenicrs80357711GRCh37Chr 17, 41243513: 41243513
340BRCA1NM_007294.3(BRCA1): c.4096+1G> Asingle nucleotide variantPathogenicrs80358178GRCh37Chr 17, 41243451: 41243451
341BRCA1NM_007294.3(BRCA1): c.4096+3A> Gsingle nucleotide variantPathogenicrs80358015GRCh37Chr 17, 41243449: 41243449
342BRCA1NM_007294.3(BRCA1): c.4097-1G> Asingle nucleotide variantPathogenicrs80358070GRCh37Chr 17, 41243050: 41243050
343BRCA1NM_007294.3(BRCA1): c.4116_4117delTG (p.Cys1372Terfs)deletionPathogenicrs80357804GRCh37Chr 17, 41243029: 41243030
344BRCA1NM_007294.3(BRCA1): c.4117G> T (p.Glu1373Ter)single nucleotide variantPathogenicrs80357259GRCh37Chr 17, 41243029: 41243029
345BRCA1NM_007294.3(BRCA1): c.4120_4121delAG (p.Ser1374Terfs)deletionPathogenicrs80357787GRCh37Chr 17, 41243025: 41243026
346BRCA1NM_007294.3(BRCA1): c.4148C> G (p.Ser1383Ter)single nucleotide variantPathogenicrs80357071GRCh37Chr 17, 41242998: 41242998
347BRCA1NM_007294.3: c.4185+2_4185+22del21insAindelPathogenicrs273900724GRCh37Chr 17, 41242939: 41242959
348BRCA1NM_007294.3(BRCA1): c.4243delG (p.Glu1415Lysfs)deletionPathogenicrs80357981GRCh37Chr 17, 41234535: 41234535
349BRCA1NM_007294.3(BRCA1): c.4251_4252delGT (p.Leu1418Argfs)deletionPathogenicrs80357977GRCh37Chr 17, 41234526: 41234527
350BRCA1NM_007294.3(BRCA1): c.427G> T (p.Glu143Ter)single nucleotide variantPathogenicrs80356991GRCh37Chr 17, 41256153: 41256153
351BRCA1NM_007294.3(BRCA1): c.4357+1G> Asingle nucleotide variantPathogenicrs80358027GRCh37Chr 17, 41234420: 41234420
352BRCA1NM_007294.3(BRCA1): c.4387delT (p.Tyr1463Thrfs)deletionPathogenicrs397507229GRCh37Chr 17, 41228602: 41228602
353BRCA1NM_007294.3: c.4388_4389ins7insertionPathogenicGRCh37Chr 17, 41228600: 41228601
354BRCA1NM_007294.3(BRCA1): c.4391_4393delCTAinsTT (p.Pro1464Leufs)indelPathogenicrs273900730GRCh37Chr 17, 41228596: 41228598
355BRCA1NM_007294.3(BRCA1): c.4391delC (p.Pro1464Leufs)deletionPathogenicrs80357916GRCh37Chr 17, 41228598: 41228598
356BRCA1NM_007294.3(BRCA1): c.4393delA (p.Ile1465Terfs)deletionPathogenicrs397507230GRCh37Chr 17, 41228596: 41228596
357BRCA1NM_007294.3(BRCA1): c.4427dupA (p.Phe1477Valfs)duplicationPathogenicrs397507231GRCh37Chr 17, 41228561: 41228562
358BRCA1NM_007294.3(BRCA1): c.4482_4483delAA (p.Arg1495Valfs)deletionPathogenicrs80357854GRCh37Chr 17, 41228506: 41228507
359BRCA1NM_007294.3(BRCA1): c.4484+1G> Asingle nucleotide variantPathogenicrs80358063GRCh37Chr 17, 41228504: 41228504
360BRCA1NM_007294.3(BRCA1): c.4484G> A (p.Arg1495Lys)single nucleotide variantPathogenicrs80357389GRCh37Chr 17, 41228505: 41228505
361BRCA1NM_007294.3(BRCA1): c.4484G> T (p.Arg1495Met)single nucleotide variantPathogenicrs80357389GRCh37Chr 17, 41228505: 41228505
362BRCA1NM_007294.3(BRCA1): c.466dupC (p.Leu156Profs)duplicationPathogenicrs397507236GRCh37Chr 17, 41251872: 41251873
363BRCA1NM_007294.3(BRCA1): c.4675G> A (p.Glu1559Lys)single nucleotide variantPathogenicrs80356988GRCh37Chr 17, 41226348: 41226348
364BRCA1NM_007294.3(BRCA1): c.4675G> C (p.Glu1559Gln)single nucleotide variantLikely pathogenic, Pathogenicrs80356988GRCh37Chr 17, 41226348: 41226348
365BRCA1NM_007294.3(BRCA1): c.4689C> G (p.Tyr1563Ter)single nucleotide variantPathogenicrs80357433GRCh37Chr 17, 41223242: 41223242
366BRCA1NM_007294.3(BRCA1): c.470_471delCT (p.Ser157Terfs)deletionPathogenicrs80357887GRCh37Chr 17, 41251868: 41251869
367BRCA1NM_007294.3(BRCA1): c.4749_4750delAG (p.Arg1583Serfs)deletionPathogenicrs80357641GRCh37Chr 17, 41223181: 41223182
368BRCA1NM_007294.3(BRCA1): c.4775_4779delACATAinsC (p.Asn1592Thrfs)indelPathogenicrs397507237GRCh37Chr 17, 41223152: 41223156
369BRCA1NM_007294.3(BRCA1): c.4868C> G (p.Ala1623Gly)single nucleotide variantLikely pathogenic, Pathogenicrs80356862GRCh37Chr 17, 41223063: 41223063
370BRCA1NM_007294.3(BRCA1): c.4964_4982del19 (p.Ser1655Tyrfs)deletionPathogenicrs80359876GRCh37Chr 17, 41222949: 41222967
371BRCA1NM_007294.3(BRCA1): c.4986+1G> Tsingle nucleotide variantPathogenicrs80358162GRCh37Chr 17, 41222944: 41222944
372BRCA1NM_007294.3(BRCA1): c.4986+4A> Csingle nucleotide variantPathogenicrs80358087GRCh37Chr 17, 41222941: 41222941
373BRCA1NM_007294.3(BRCA1): c.4986+6T> Csingle nucleotide variantLikely pathogenic, Pathogenicrs80358086GRCh37Chr 17, 41222939: 41222939
374BRCA1NM_007294.3(BRCA1): c.5030_5033delCTAA (p.Thr1677Ilefs)deletionPathogenicrs80357862GRCh37Chr 17, 41219666: 41219669
375BRCA1NM_007294.3(BRCA1): c.5035_5039delCTAAT (p.Leu1679Tyrfs)deletionPathogenicrs80357623GRCh37Chr 17, 41219660: 41219664
376BRCA1NM_007294.3(BRCA1): c.5066T> G (p.Met1689Arg)single nucleotide variantPathogenicrs80357061GRCh37Chr 17, 41219633: 41219633
377BRCA1NM_007294.3(BRCA1): c.5068A> T (p.Lys1690Ter)single nucleotide variantPathogenicrs397507239GRCh37Chr 17, 41219631: 41219631
378BRCA1NM_007294.3(BRCA1): c.5074+1G> Asingle nucleotide variantPathogenicrs80358053GRCh37Chr 17, 41219624: 41219624
379BRCA1NM_007294.3(BRCA1): c.5074+1G> Tsingle nucleotide variantLikely pathogenic, Pathogenicrs80358053GRCh37Chr 17, 41219624: 41219624
380BRCA1NM_007294.3(BRCA1): c.5074+2T> Csingle nucleotide variantPathogenicrs80358089GRCh37Chr 17, 41219623: 41219623
381BRCA1NM_007294.3(BRCA1): c.5074G> A (p.Asp1692Asn)single nucleotide variantLikely pathogenic, Pathogenicrs80187739GRCh37Chr 17, 41219625: 41219625
382BRCA1NM_007294.3(BRCA1): c.5074G> C (p.Asp1692His)single nucleotide variantPathogenicrs80187739GRCh37Chr 17, 41219625: 41219625
383BRCA1NM_007294.3(BRCA1): c.5096G> A (p.Arg1699Gln)single nucleotide variantLikely pathogenic, Pathogenicrs41293459GRCh37Chr 17, 41215947: 41215947
384BRCA1NM_007294.3(BRCA1): c.5117G> A (p.Gly1706Glu)single nucleotide variantLikely pathogenicrs80356860GRCh37Chr 17, 41215926: 41215926
385BRCA1NM_007294.3(BRCA1): c.5152+1G> Csingle nucleotide variantPathogenicrs80358094GRCh37Chr 17, 41215890: 41215890
386BRCA1NM_007294.3(BRCA1): c.5153-1G> Csingle nucleotide variantLikely pathogenic, Pathogenicrs80358137GRCh37Chr 17, 41215391: 41215391
387BRCA1NM_007294.3(BRCA1): c.5177_5180delGAAA (p.Arg1726Lysfs)deletionPathogenicrs80357975GRCh37Chr 17, 41215363: 41215366
388BRCA1NM_007294.3(BRCA1): c.5179A> T (p.Lys1727Ter)single nucleotide variantPathogenicrs80357347GRCh37Chr 17, 41215364: 41215364
389BRCA1NM_007294.3(BRCA1): c.5194-2A> Gsingle nucleotide variantPathogenicrs80358069GRCh37Chr 17, 41209154: 41209154
390BRCA1NM_007294.3(BRCA1): c.5207T> C (p.Val1736Ala)single nucleotide variantPathogenicrs45553935GRCh37Chr 17, 41209139: 41209139
391BRCA1NM_007294.3: c.5232_5238delAAACCACins12indelPathogenicGRCh37Chr 17, 41209108: 41209114
392BRCA1NM_007294.3(BRCA1): c.5259delA (p.Glu1754Asnfs)deletionPathogenicrs80357925GRCh37Chr 17, 41209087: 41209087
393BRCA1NM_007294.3(BRCA1): c.5277+1G> Asingle nucleotide variantPathogenicrs80358150GRCh37Chr 17, 41209068: 41209068
394BRCA1NM_007294.3(BRCA1): c.5297T> G (p.Ile1766Ser)single nucleotide variantPathogenicrs80357463GRCh37Chr 17, 41203115: 41203115
395BRCA1NM_007294.3(BRCA1): c.5335delC (p.Gln1779Asnfs)deletionPathogenicrs80357590GRCh37Chr 17, 41201209: 41201209
396BRCA1NM_007294.3(BRCA1): c.5346G> A (p.Trp1782Ter)single nucleotide variantPathogenicrs80357284GRCh37Chr 17, 41201198: 41201198
397BRCA1NM_007294.3(BRCA1): c.5363G> T (p.Gly1788Val)single nucleotide variantPathogenicrs80357069GRCh37Chr 17, 41201181: 41201181
398BRCA1NM_007294.3(BRCA1): c.5386delT (p.Ser1796Hisfs)deletionPathogenicrs397507249GRCh37Chr 17, 41201158: 41201158
399BRCA1NM_007294.3(BRCA1): c.5387C> A (p.Ser1796Ter)single nucleotide variantPathogenicrs80357055GRCh37Chr 17, 41201157: 41201157
400BRCA1NM_007294.3(BRCA1): c.53T> C (p.Met18Thr)single nucleotide variantLikely pathogenicrs80356929GRCh37Chr 17, 41276061: 41276061
401BRCA1NM_007294.3(BRCA1): c.5406+1G> Asingle nucleotide variantPathogenicrs80358028GRCh37Chr 17, 41201137: 41201137
402BRCA1NM_007294.3(BRCA1): c.5406+5G> Tsingle nucleotide variantPathogenicrs80358073GRCh37Chr 17, 41201133: 41201133
403BRCA1NM_007294.3(BRCA1): c.5417delC (p.Pro1806Glnfs)deletionPathogenicrs80357558GRCh37Chr 17, 41199710: 41199710
404BRCA1NM_007294.3(BRCA1): c.5453A> G (p.Asp1818Gly)single nucleotide variantPathogenicrs80357477GRCh37Chr 17, 41199674: 41199674
405BRCA1NM_007294.3(BRCA1): c.5467+1G> Asingle nucleotide variantPathogenicrs80358145GRCh37Chr 17, 41199659: 41199659
406BRCA1NM_007294.3(BRCA1): c.547+2T> Asingle nucleotide variantPathogenicrs80358047GRCh37Chr 17, 41251790: 41251790
407BRCA1NM_007294.3(BRCA1): c.5509T> C (p.Trp1837Arg)single nucleotide variantLikely pathogenicrs80356959GRCh37Chr 17, 41197778: 41197778
408BRCA1NM_007294.3(BRCA1): c.5578dupC (p.His1860Profs)duplicationLikely pathogenicrs397507254GRCh37Chr 17, 41197708: 41197709
409BRCA1NM_007294.3(BRCA1): c.594-2A> Csingle nucleotide variantPathogenicrs80358033GRCh37Chr 17, 41247941: 41247941
410BRCA1NM_007294.3(BRCA1): c.66dupA (p.Glu23Argfs)duplicationPathogenicrs80357783GRCh37Chr 17, 41276047: 41276048
411BRCA1NM_007294.3(BRCA1): c.676delT (p.Cys226Valfs)deletionPathogenicrs80357941GRCh37Chr 17, 41246872: 41246872
412BRCA1NM_007294.3(BRCA1): c.697_698delGT (p.Val233Asnfs)deletionPathogenicrs80357747GRCh37Chr 17, 41246850: 41246851
413BRCA1NM_007294.3(BRCA1): c.783T> G (p.Tyr261Ter)single nucleotide variantPathogenicrs80357321GRCh37Chr 17, 41246765: 41246765
414BRCA1NM_007294.3(BRCA1): c.798_799delTT (p.Ser267Lysfs)deletionPathogenicrs80357724GRCh37Chr 17, 41246749: 41246750
415BRCA1NM_007294.3: c.824_825ins10insertionPathogenicGRCh37Chr 17, 41246723: 41246724
416BRCA1NM_007294.3(BRCA1): c.85G> T (p.Glu29Ter)single nucleotide variantPathogenicrs80357443GRCh37Chr 17, 41267792: 41267792
417BRCA1NM_007294.3(BRCA1): c.929delA (p.Gln310Argfs)deletionPathogenicrs80357844GRCh37Chr 17, 41246619: 41246619
418BRCA1NM_007294.3(BRCA1): c.952_1015del64 (p.His318Argfs)deletionPathogenicrs80359872GRCh37Chr 17, 41246533: 41246596
419BRCA1NM_007294.3(BRCA1): c.962G> A (p.Trp321Ter)single nucleotide variantPathogenicrs80357292GRCh37Chr 17, 41246586: 41246586
420BRCA1NM_007294.3(BRCA1): c.1008dupA (p.Glu337Argfs)duplicationPathogenicrs67284603GRCh37Chr 17, 41246539: 41246540
421BRCA1NM_007294.3(BRCA1): c.1016dupA (p.Val340Glyfs)duplicationPathogenicrs80357569GRCh37Chr 17, 41246531: 41246532
422BRCA1NM_007294.3(BRCA1): c.101delC (p.Pro34Leufs)deletionPathogenicrs80357750GRCh37Chr 17, 41267776: 41267776
423BRCA1NM_007294.3(BRCA1): c.1045G> T (p.Glu349Ter)single nucleotide variantPathogenicrs80357338GRCh37Chr 17, 41246503: 41246503
424BRCA1NM_007294.3(BRCA1): c.1054G> T (p.Glu352Ter)single nucleotide variantPathogenicrs80357472GRCh37Chr 17, 41246494: 41246494
425BRCA1NM_007294.3(BRCA1): c.1058G> A (p.Trp353Ter)single nucleotide variantPathogenicrs80356908GRCh37Chr 17, 41246490: 41246490
426BRCA1NM_007294.3(BRCA1): c.1059G> A (p.Trp353Ter)single nucleotide variantPathogenicrs80356935GRCh37Chr 17, 41246489: 41246489
427BRCA1NM_007294.3(BRCA1): c.1066C> T (p.Gln356Ter)single nucleotide variantPathogenicrs80357215GRCh37Chr 17, 41246482: 41246482
428BRCA1NM_007294.3(BRCA1): c.1067delA (p.Gln356Argfs)deletionPathogenicrs80357796GRCh37Chr 17, 41246481: 41246481
429BRCA1NM_007294.3(BRCA1): c.1072delC (p.Leu358Cysfs)deletionPathogenicrs80357836GRCh37Chr 17, 41246476: 41246476
430BRCA1NM_007294.3(BRCA1): c.1082_1092delCAGAGAATCCT (p.Ser361Terfs)deletionPathogenicrs80359880GRCh37Chr 17, 41246456: 41246466
431BRCA1NM_007294.3(BRCA1): c.1086_1087delGA (p.Asn363Serfs)deletionPathogenicrs80357897GRCh37Chr 17, 41246461: 41246462
432BRCA1NM_007294.3(BRCA1): c.1088delA (p.Asn363Ilefs)deletionPathogenicrs80357954GRCh37Chr 17, 41246460: 41246460
433BRCA1NM_007294.3(BRCA1): c.1102G> T (p.Glu368Ter)single nucleotide variantPathogenicrs80357139GRCh37Chr 17, 41246446: 41246446
434BRCA1NM_007294.3(BRCA1): c.1116G> A (p.Trp372Ter)single nucleotide variantPathogenicrs80357468GRCh37Chr 17, 41246432: 41246432
435BRCA1NM_007294.3(BRCA1): c.1121_1123delCACinsT (p.Thr374Ilefs)indelPathogenicrs273897652GRCh37Chr 17, 41246425: 41246427
436BRCA1NM_007294.3(BRCA1): c.1127delA (p.Asn376Ilefs)deletionPathogenicrs80357821GRCh37Chr 17, 41246421: 41246421
437BRCA1NM_007294.3(BRCA1): c.112_113delAA (p.Lys38Valfs)deletionPathogenicrs80357949GRCh37Chr 17, 41267764: 41267765
438BRCA1NM_007294.3(BRCA1): c.1141A> T (p.Lys381Ter)single nucleotide variantPathogenicrs80357385GRCh37Chr 17, 41246407: 41246407
439BRCA1NM_007294.3(BRCA1): c.115T> C (p.Cys39Arg)single nucleotide variantPathogenicrs80357164GRCh37Chr 17, 41267762: 41267762
440BRCA1NM_007294.3(BRCA1): c.1165delA (p.Ser389Valfs)deletionPathogenicrs80357985GRCh37Chr 17, 41246383: 41246383
441BRCA1NM_007294.3(BRCA1): c.1166delG (p.Ser389Metfs)deletionPathogenicrs273897653GRCh37Chr 17, 41246382: 41246382
442BRCA1NM_007294.3(BRCA1): c.117_118delTG (p.Cys39Terfs)deletionPathogenicrs80357972GRCh37Chr 17, 41267759: 41267760
443BRCA1NM_007294.3(BRCA1): c.1193C> G (p.Ser398Ter)single nucleotide variantPathogenicrs80357068GRCh37Chr 17, 41246355: 41246355
444BRCA1NM_007294.3(BRCA1): c.1204delG (p.Glu402Serfs)deletionPathogenicrs80357859GRCh37Chr 17, 41246344: 41246344
445BRCA1NM_007294.3(BRCA1): c.1214C> A (p.Ser405Ter)single nucleotide variantPathogenicrs80357481GRCh37Chr 17, 41246334: 41246334
446BRCA1NM_007294.3(BRCA1): c.1240_1246delGACGTTC (p.Asp414Terfs)deletionPathogenicrs80357964GRCh37Chr 17, 41246302: 41246308
447BRCA1NM_007294.3(BRCA1): c.1241dupA (p.Asp414Glufs)duplicationPathogenicrs80357514GRCh37Chr 17, 41246306: 41246307
448BRCA1NM_007294.3(BRCA1): c.124delA (p.Ile42Tyrfs)deletionPathogenicrs80357943GRCh37Chr 17, 41267753: 41267753
449BRCA1NM_007294.3(BRCA1): c.1252G> T (p.Glu418Ter)single nucleotide variantPathogenicrs80357083GRCh37Chr 17, 41246296: 41246296
450BRCA1NM_007294.3(BRCA1): c.1255delG (p.Val419Terfs)deletionPathogenicrs80357535GRCh37Chr 17, 41246293: 41246293
451BRCA1NM_007294.3(BRCA1): c.1265dupA (p.Tyr422Terfs)duplicationPathogenicrs80357809GRCh37Chr 17, 41246282: 41246283
452BRCA1NM_007294.3(BRCA1): c.1266T> G (p.Tyr422Ter)single nucleotide variantPathogenicrs80357417GRCh37Chr 17, 41246282: 41246282
453BRCA1NM_007294.3(BRCA1): c.1276delT (p.Ser426Glnfs)deletionPathogenicrs80357766GRCh37Chr 17, 41246272: 41246272
454BRCA1NM_007294.3(BRCA1): c.1287dupA (p.Asp430Argfs)duplicationPathogenicrs80357576GRCh37Chr 17, 41246260: 41246261
455BRCA1NM_007294.3(BRCA1): c.1292T> G (p.Leu431Ter)single nucleotide variantPathogenicrs80357346GRCh37Chr 17, 41246256: 41246256
456BRCA1NM_007294.3(BRCA1): c.1292dupT (p.Leu431Phefs)duplicationPathogenicrs80357528GRCh37Chr 17, 41246255: 41246256
457BRCA1NM_007294.3(BRCA1): c.1297delG (p.Ala433Profs)deletionPathogenicrs80357794GRCh37Chr 17, 41246251: 41246251
458BRCA1NM_007294.3(BRCA1): c.130delT (p.Cys44Alafs)deletionPathogenicrs80357951GRCh37Chr 17, 41267747: 41267747
459BRCA1NM_007294.3(BRCA1): c.1319delT (p.Leu440Terfs)deletionPathogenicrs80357683GRCh37Chr 17, 41246229: 41246229
460BRCA1NM_007294.3(BRCA1): c.131G> A (p.Cys44Tyr)single nucleotide variantPathogenicrs80357446GRCh37Chr 17, 41267746: 41267746
461BRCA1NM_007294.3(BRCA1): c.131G> T (p.Cys44Phe)single nucleotide variantPathogenicrs80357446GRCh37Chr 17, 41267746: 41267746
462BRCA1NM_007294.3(BRCA1): c.1323_1324delAT (p.Ile441Metfs)deletionPathogenicrs80357570GRCh37Chr 17, 41246224: 41246225
463BRCA1NM_007294.3(BRCA1): c.1333G> T (p.Glu445Ter)single nucleotide variantPathogenicrs80356915GRCh37Chr 17, 41246215: 41246215
464BRCA1NM_007294.3(BRCA1): c.1335_1336delAA (p.Arg446Serfs)deletionPathogenicrs80357978GRCh37Chr 17, 41246212: 41246213
465BRCA1NM_007294.3(BRCA1): c.134+1G> Tsingle nucleotide variantPathogenicrs80358043GRCh37Chr 17, 41267742: 41267742
466BRCA1NM_007294.3(BRCA1): c.134+2T> Gsingle nucleotide variantPathogenicrs80358131GRCh37Chr 17, 41267741: 41267741
467BRCA1NM_007294.3(BRCA1): c.135-1G> Csingle nucleotide variantPathogenicrs80358158GRCh37Chr 17, 41258551: 41258551
468BRCA1NM_007294.3(BRCA1): c.1352C> A (p.Ser451Ter)single nucleotide variantPathogenicrs80356891GRCh37Chr 17, 41246196: 41246196
469BRCA1NM_007294.3(BRCA1): c.1352C> G (p.Ser451Ter)single nucleotide variantPathogenicrs80356891GRCh37Chr 17, 41246196: 41246196
470BRCA1NM_007294.3(BRCA1): c.1380dupA (p.Phe461Ilefs)duplicationPathogenicrs80357714GRCh37Chr 17, 41246167: 41246168
471BRCA1NM_007294.3(BRCA1): c.1383delT (p.Phe461Leufs)deletionPathogenicrs80357879GRCh37Chr 17, 41246165: 41246165
472BRCA1NM_007294.3(BRCA1): c.1386delG (p.Thr464Profs)deletionPathogenicrs80357722GRCh37Chr 17, 41246162: 41246162
473BRCA1NM_007294.3(BRCA1): c.1390delA (p.Thr464Profs)deletionPathogenicrs80357770GRCh37Chr 17, 41246158: 41246158
474BRCA1NM_007294.3(BRCA1): c.1399A> T (p.Lys467Ter)single nucleotide variantPathogenicrs80357279GRCh37Chr 17, 41246149: 41246149
475BRCA1NM_007294.3(BRCA1): c.1421T> G (p.Leu474Ter)single nucleotide variantPathogenicrs80357490GRCh37Chr 17, 41246127: 41246127
476BRCA1NM_007294.3(BRCA1): c.1439dupA (p.Asn480Lysfs)duplicationPathogenicrs80357505GRCh37Chr 17, 41246108: 41246109
477BRCA1NM_007294.3(BRCA1): c.1444delA (p.Ile482Leufs)deletionPathogenicrs80357648GRCh37Chr 17, 41246104: 41246104
478BRCA1NM_007294.3(BRCA1): c.144delG (p.Met48Ilefs)deletionPathogenicrs80357682GRCh37Chr 17, 41258541: 41258541
479BRCA1NM_007294.3(BRCA1): c.1450G> T (p.Gly484Ter)single nucleotide variantPathogenicrs80357304GRCh37Chr 17, 41246098: 41246098
480BRCA1NM_007294.3(BRCA1): c.1471C> T (p.Gln491Ter)single nucleotide variantPathogenicrs62625303GRCh37Chr 17, 41246077: 41246077
481BRCA1NM_007294.3(BRCA1): c.1492delC (p.Leu498Serfs)deletionPathogenicrs80357527GRCh37Chr 17, 41246056: 41246056
482BRCA1NM_007294.3(BRCA1): c.1497_1500delAAAT (p.Lys501Terfs)deletionPathogenicrs80357632GRCh37Chr 17, 41246048: 41246051
483BRCA1NM_007294.3(BRCA1): c.1508delA (p.Lys503Serfs)deletionPathogenicrs80357506GRCh37Chr 17, 41246040: 41246040
484BRCA1NM_007294.3(BRCA1): c.150delA (p.Lys50Asnfs)deletionPathogenicrs273897662GRCh37Chr 17, 41258535: 41258535
485BRCA1NM_007294.3(BRCA1): c.1511dupG (p.Lys505Terfs)duplicationPathogenicrs80357817GRCh37Chr 17, 41246036: 41246037
486BRCA1NM_007294.3(BRCA1): c.1523delC (p.Pro508Leufs)deletionPathogenicrs80357782GRCh37Chr 17, 41246025: 41246025
487BRCA1NM_007294.3(BRCA1): c.1529C> G (p.Ser510Ter)single nucleotide variantPathogenicrs80357427GRCh37Chr 17, 41246019: 41246019
488BRCA1NM_007294.3(BRCA1): c.1530delA (p.Gly511Alafs)deletionPathogenicrs80357735GRCh37Chr 17, 41246018: 41246018
489BRCA1NM_007294.3(BRCA1): c.1551delT (p.Phe517Leufs)deletionPathogenicrs80357630GRCh37Chr 17, 41245997: 41245997
490BRCA1NM_007294.3(BRCA1): c.1576C> T (p.Gln526Ter)single nucleotide variantPathogenicrs80356984GRCh37Chr 17, 41245972: 41245972
491BRCA1NM_007294.3(BRCA1): c.1608_1611delTAAC (p.Asn537Lysfs)deletionPathogenicrs80357698GRCh37Chr 17, 41245937: 41245940
492BRCA1NM_007294.3(BRCA1): c.160C> T (p.Gln54Ter)single nucleotide variantPathogenicrs80356864GRCh37Chr 17, 41258525: 41258525
493BRCA1NM_007294.3(BRCA1): c.1612C> T (p.Gln538Ter)single nucleotide variantPathogenicrs80356893GRCh37Chr 17, 41245936: 41245936
494BRCA1NM_007294.3(BRCA1): c.1621C> T (p.Gln541Ter)single nucleotide variantPathogenicrs80356904GRCh37Chr 17, 41245927: 41245927
495BRCA1NM_007294.3(BRCA1): c.1630C> T (p.Gln544Ter)single nucleotide variantPathogenicrs80356952GRCh37Chr 17, 41245918: 41245918
496BRCA1NM_007294.3(BRCA1): c.1636_1654del19 (p.Met546Valfs)deletionPathogenicrs80359881GRCh37Chr 17, 41245894: 41245912
497BRCA1NM_007294.3(BRCA1): c.1649delA (p.Asn550Ilefs)deletionPathogenicrs80357619GRCh37Chr 17, 41245899: 41245899
498BRCA1NM_007294.3(BRCA1): c.1713_1717delAGAAT (p.Glu572Thrfs)deletionPathogenicrs80357640GRCh37Chr 17, 41245831: 41245835
499BRCA1NM_007294.3(BRCA1): c.1729_1730delGA (p.Glu577Ilefs)deletionPathogenicrs80357834GRCh37Chr 17, 41245818: 41245819
500BRCA1NM_007294.3(BRCA1): c.1747A> T (p.Lys583Ter)single nucleotide variantPathogenicrs80356928GRCh37Chr 17, 41245801: 41245801
501BRCA1NM_007294.3(BRCA1): c.1757delC (p.Pro586Leufs)deletionPathogenicrs80357723GRCh37Chr 17, 41245791: 41245791
502BRCA1NM_007294.3(BRCA1): c.1772delT (p.Ile591Lysfs)deletionPathogenicrs80357901GRCh37Chr 17, 41245776: 41245776
503BRCA1NM_007294.3(BRCA1): c.1789G> T (p.Glu597Ter)single nucleotide variantPathogenicrs55650082GRCh37Chr 17, 41245759: 41245759
504BRCA1NM_007294.3(BRCA1): c.178C> T (p.Gln60Ter)single nucleotide variantPathogenicrs80357471GRCh37Chr 17, 41258507: 41258507
505BRCA1NM_007294.3(BRCA1): c.1793T> A (p.Leu598Ter)single nucleotide variantPathogenicrs80357118GRCh37Chr 17, 41245755: 41245755
506BRCA1NM_007294.3(BRCA1): c.1793T> G (p.Leu598Ter)single nucleotide variantPathogenicrs80357118GRCh37Chr 17, 41245755: 41245755
507BRCA1NM_007294.3(BRCA1): c.179delA (p.Gln60Argfs)deletionPathogenicrs80357591GRCh37Chr 17, 41258506: 41258506
508BRCA1NM_007294.3(BRCA1): c.1819A> T (p.Lys607Ter)single nucleotide variantPathogenicrs80357220GRCh37Chr 17, 41245729: 41245729
509BRCA1NM_007294.3(BRCA1): c.1823_1826delAGAA (p.Lys608Ilefs)deletionPathogenicrs80357952GRCh37Chr 17, 41245722: 41245725
510BRCA1NM_007294.3(BRCA1): c.1825delA (p.Asn609Ilefs)deletionPathogenicrs80357736GRCh37Chr 17, 41245723: 41245723
511BRCA1NM_007294.3(BRCA1): c.182G> A (p.Cys61Tyr)single nucleotide variantPathogenicrs80357093GRCh37Chr 17, 41258503: 41258503
512BRCA1NM_007294.3(BRCA1): c.1837delA (p.Arg613Glyfs)deletionPathogenicrs80357652GRCh37Chr 17, 41245711: 41245711
513BRCA1NM_007294.3(BRCA1): c.1840A> T (p.Lys614Ter)single nucleotide variantPathogenicrs80357282GRCh37Chr 17, 41245708: 41245708
514BRCA1NM_007294.3(BRCA1): c.1870G> T (p.Glu624Ter)single nucleotide variantPathogenicrs80356950GRCh37Chr 17, 41245678: 41245678
515BRCA1NM_007294.3(BRCA1): c.1874_1877dupTAGT (p.Val627Serfs)duplicationPathogenicrs80357516GRCh37Chr 17, 41245671: 41245674
516BRCA1NM_007294.3(BRCA1): c.1881_1884delCAGT (p.Ser628Glufs)deletionPathogenicrs80357567GRCh37Chr 17, 41245664: 41245667
517BRCA1NM_007294.3(BRCA1): c.188T> A (p.Leu63Ter)single nucleotide variantPathogenicrs80357086GRCh37Chr 17, 41258497: 41258497
518BRCA1NM_007294.3(BRCA1): c.1892dupT (p.Ser632Lysfs)duplicationPathogenicrs80357932GRCh37Chr 17, 41245655: 41245656
519BRCA1NM_007294.3(BRCA1): c.1898delC (p.Pro633Hisfs)deletionPathogenicrs80357851GRCh37Chr 17, 41245650: 41245650
520BRCA1NM_007294.3(BRCA1): c.189dupA (p.Cys64Metfs)duplicationPathogenicrs273897665GRCh37Chr 17, 41258495: 41258496
521BRCA1NM_007294.3(BRCA1): c.190T> C (p.Cys64Arg)single nucleotide variantPathogenicrs80357064GRCh37Chr 17, 41258495: 41258495
522BRCA1NM_007294.3(BRCA1): c.1912G> T (p.Glu638Ter)single nucleotide variantPathogenicrs80357005GRCh37Chr 17, 41245636: 41245636
523BRCA1NM_007294.3(BRCA1): c.1912delG (p.Glu638Asnfs)deletionPathogenicrs80357933GRCh37Chr 17, 41245636: 41245636
524BRCA1NM_007294.3(BRCA1): c.1916T> A (p.Leu639Ter)single nucleotide variantPathogenicrs80357267GRCh37Chr 17, 41245632: 41245632
525BRCA1NM_007294.3(BRCA1): c.191G> A (p.Cys64Tyr)single nucleotide variantPathogenicrs55851803GRCh37Chr 17, 41258494: 41258494
526BRCA1NM_007294.3(BRCA1): c.1945G> T (p.Glu649Ter)single nucleotide variantPathogenicrs80356907GRCh37Chr 17, 41245603: 41245603
527BRCA1NM_007294.3(BRCA1): c.1952dupA (p.Lys652Glufs)duplicationPathogenicrs80357885GRCh37Chr 17, 41245595: 41245596
528BRCA1NM_007294.3(BRCA1): c.1953dupG (p.Lys652Glufs)duplicationPathogenicrs80357753GRCh37Chr 17, 41245594: 41245595
529BRCA1NM_007294.3(BRCA1): c.195delG (p.Asn66Metfs)deletionPathogenicrs80357869GRCh37Chr 17, 41258490: 41258490
530BRCA1NM_007294.3(BRCA1): c.1960_1961delAA (p.Lys654Valfs)deletionPathogenicrs80357643GRCh37Chr 17, 41245587: 41245588
531BRCA1NM_007294.3(BRCA1): c.1961dupA (p.Tyr655Valfs)duplicationPathogenicrs80357853GRCh37Chr 17, 41245586: 41245587
532BRCA1NM_007294.3(BRCA1): c.1996delC (p.Leu666Tyrfs)deletionPathogenicrs80357922GRCh37Chr 17, 41245552: 41245552
533BRCA1NM_007294.3(BRCA1): c.1999C> T (p.Gln667Ter)single nucleotide variantPathogenicrs80356889GRCh37Chr 17, 41245549: 41245549
534BRCA1NM_007294.3(BRCA1): c.1A> G (p.Met1Val)single nucleotide variantPathogenicrs80357287GRCh37Chr 17, 41276113: 41276113
535BRCA1NM_007294.3(BRCA1): c.2017G> T (p.Glu673Ter)single nucleotide variantPathogenicrs80357391GRCh37Chr 17, 41245531: 41245531
536BRCA1NM_007294.3(BRCA1): c.2017delG (p.Glu673Asnfs)deletionPathogenicrs80357638GRCh37Chr 17, 41245531: 41245531
537BRCA1NM_007294.3(BRCA1): c.2019delA (p.Glu673Aspfs)deletionPathogenicrs80357626GRCh37Chr 17, 41245529: 41245529
538BRCA1NM_007294.3(BRCA1): c.2035A> T (p.Lys679Ter)single nucleotide variantPathogenicrs80357082GRCh37Chr 17, 41245513: 41245513
539BRCA1NM_007294.3(BRCA1): c.2059C> T (p.Gln687Ter)single nucleotide variantPathogenicrs273898674GRCh37Chr 17, 41245489: 41245489
540BRCA1NM_007294.3(BRCA1): c.2074delC (p.His692Metfs)deletionPathogenicrs80357554GRCh37Chr 17, 41245474: 41245474
541BRCA1NM_007294.3(BRCA1): c.2079_2080delCA (p.Asp693Glufs)deletionPathogenicrs80357773GRCh37Chr 17, 41245468: 41245469
542BRCA1NM_007294.3(BRCA1): c.2105T> G (p.Leu702Ter)single nucleotide variantPathogenicrs80357298GRCh37Chr 17, 41245443: 41245443
543BRCA1NM_007294.3(BRCA1): c.2110_2111delAA (p.Asn704Cysfs)deletionPathogenicrs80357814GRCh37Chr 17, 41245437: 41245438
544BRCA1NM_007294.3(BRCA1): c.212+1G> Csingle nucleotide variantPathogenicrs80358042GRCh37Chr 17, 41258472: 41258472
545BRCA1NM_007294.3(BRCA1): c.212+1G> Tsingle nucleotide variantPathogenicrs80358042GRCh37Chr 17, 41258472: 41258472
546BRCA1NM_007294.3(BRCA1): c.212+2T> Csingle nucleotide variantPathogenicrs80358026GRCh37Chr 17, 41258471: 41258471
547BRCA1NM_007294.3(BRCA1): c.212+3A> Gsingle nucleotide variantPathogenicrs80358083GRCh37Chr 17, 41258470: 41258470
548BRCA1NM_007294.3(BRCA1): c.2125_2126insA (p.Phe709Tyrfs)insertionPathogenicrs80357871GRCh37Chr 17, 41245422: 41245423
549BRCA1NM_007294.3(BRCA1): c.212G> A (p.Arg71Lys)single nucleotide variantPathogenicrs80356913GRCh37Chr 17, 41258473: 41258473
550BRCA1NM_007294.3(BRCA1): c.213-1G> Asingle nucleotide variantPathogenicrs80358146GRCh37Chr 17, 41256974: 41256974
551BRCA1NM_007294.3(BRCA1): c.2142delT (p.Asn714Lysfs)deletionPathogenicrs273898679GRCh37Chr 17, 41245406: 41245406
552BRCA1NM_007294.3(BRCA1): c.2176delC (p.Leu726Phefs)deletionPathogenicrs80357668GRCh37Chr 17, 41245372: 41245372
553BRCA1NM_007294.3(BRCA1): c.2188G> T (p.Glu730Ter)single nucleotide variantPathogenicrs80357058GRCh37Chr 17, 41245360: 41245360
554BRCA1NM_007294.3(BRCA1): c.2188_2201delGAAAAAGAAGAGAA (p.Glu730Thrfs)deletionPathogenicrs273898681GRCh37Chr 17, 41245347: 41245360
555BRCA1NM_007294.3(BRCA1): c.2194G> T (p.Glu732Ter)single nucleotide variantPathogenicrs80357426GRCh37Chr 17, 41245354: 41245354
556BRCA1NM_007294.3(BRCA1): c.2197G> T (p.Glu733Ter)single nucleotide variantPathogenicrs397508949GRCh37Chr 17, 41245351: 41245351
557BRCA1NM_007294.3(BRCA1): c.2197_2201delGAGAA (p.Glu733Thrfs)deletionPathogenicrs80357539GRCh37Chr 17, 41245347: 41245351
558BRCA1NM_007294.3(BRCA1): c.2202delA (p.Lys734Asnfs)deletionPathogenicrs80357982GRCh37Chr 17, 41245346: 41245346
559BRCA1NM_007294.3(BRCA1): c.2203delC (p.Leu735Terfs)deletionPathogenicrs80357936GRCh37Chr 17, 41245345: 41245345
560BRCA1NM_007294.3(BRCA1): c.2206delG (p.Glu736Lysfs)deletionPathogenicrs80357860GRCh37Chr 17, 41245342: 41245342
561BRCA1NM_007294.3(BRCA1): c.220C> T (p.Gln74Ter)single nucleotide variantPathogenicrs80357234GRCh37Chr 17, 41256966: 41256966
562BRCA1NM_007294.3(BRCA1): c.2210delC (p.Thr737Lysfs)deletionPathogenicrs80357793GRCh37Chr 17, 41245338: 41245338
563BRCA1NM_007294.3(BRCA1): c.2215A> T (p.Lys739Ter)single nucleotide variantPathogenicrs56329598GRCh37Chr 17, 41245333: 41245333
564BRCA1NM_007294.3(BRCA1): c.2236dupG (p.Asp746Glyfs)duplicationPathogenicrs80357909GRCh37Chr 17, 41245311: 41245312
565BRCA1NM_007294.3(BRCA1): c.2241delC (p.Asp749Ilefs)deletionPathogenicrs80357650GRCh37Chr 17, 41245307: 41245307
566BRCA1NM_007294.3(BRCA1): c.2241dupC (p.Lys748Glnfs)duplicationPathogenicrs397508953GRCh37Chr 17, 41245306: 41245307
567BRCA1NM_007294.3(BRCA1): c.224_227delAAAG (p.Glu75Valfs)deletionPathogenicrs80357697GRCh37Chr 17, 41256959: 41256962
568BRCA1NM_007294.3(BRCA1): c.2253_2254delGT (p.Met751Ilefs)deletionPathogenicrs80357602GRCh37Chr 17, 41245294: 41245295
569BRCA1NM_007294.3(BRCA1): c.2263G> T (p.Glu755Ter)single nucleotide variantPathogenicrs41286296GRCh37Chr 17, 41245285: 41245285
570BRCA1NM_007294.3(BRCA1): c.2263delG (p.Glu755Lysfs)deletionPathogenicrs80357960GRCh37Chr 17, 41245285: 41245285
571BRCA1NM_007294.3(BRCA1): c.2275C> T (p.Gln759Ter)single nucleotide variantPathogenicrs80356999GRCh37Chr 17, 41245273: 41245273
572BRCA1NM_007294.3(BRCA1): c.2283_2284delAA (p.Arg762Ilefs)deletionPathogenicrs80357657GRCh37Chr 17, 41245264: 41245265
573BRCA1NM_007294.3(BRCA1): c.2293G> T (p.Glu765Ter)single nucleotide variantPathogenicrs80357449GRCh37Chr 17, 41245255: 41245255
574BRCA1NM_007294.3(BRCA1): c.2309C> A (p.Ser770Ter)single nucleotide variantPathogenicrs80357063GRCh37Chr 17, 41245239: 41245239
575BRCA1NM_007294.3(BRCA1): c.2314delG (p.Val772Tyrfs)deletionPathogenicrs80357957GRCh37Chr 17, 41245234: 41245234
576BRCA1NM_007294.3(BRCA1): c.2329delT (p.Tyr777Metfs)deletionPathogenicrs80357725GRCh37Chr 17, 41245219: 41245219
577BRCA1NM_007294.3(BRCA1): c.232delA (p.Arg78Aspfs)deletionPathogenicrs80357884GRCh37Chr 17, 41256954: 41256954
578BRCA1NM_007294.3(BRCA1): c.2331T> A (p.Tyr777Ter)single nucleotide variantPathogenicrs80357444GRCh37Chr 17, 41245217: 41245217
579BRCA1NM_007294.3(BRCA1): c.2338C> T (p.Gln780Ter)single nucleotide variantPathogenicrs80356945GRCh37Chr 17, 41245210: 41245210
580BRCA1NM_007294.3(BRCA1): c.2351_2357delCGTTACT (p.Ser784Trpfs)deletionPathogenicrs80357820GRCh37Chr 17, 41245191: 41245197
581BRCA1NM_007294.3(BRCA1): c.2359dupG (p.Glu787Glyfs)duplicationPathogenicrs80357739GRCh37Chr 17, 41245188: 41245189
582BRCA1NM_007294.3(BRCA1): c.2389_2390delGA (p.Glu797Thrfs)deletionPathogenicrs80357695GRCh37Chr 17, 41245158: 41245159
583BRCA1NM_007294.3(BRCA1): c.2390_2391delAA (p.Glu797Alafs)deletionPathogenicrs80357546GRCh37Chr 17, 41245157: 41245158
584BRCA1NM_007294.3(BRCA1): c.2393delC (p.Pro798Glnfs)deletionPathogenicrs80357850GRCh37Chr 17, 41245155: 41245155
585BRCA1NM_007294.3(BRCA1): c.2403T> A (p.Cys801Ter)single nucleotide variantPathogenicrs80357381GRCh37Chr 17, 41245145: 41245145
586BRCA1NM_007294.3(BRCA1): c.2405_2406delTG (p.Val802Glufs)deletionPathogenicrs80357706GRCh37Chr 17, 41245142: 41245143
587BRCA1NM_007294.3(BRCA1): c.2406_2409delGAGT (p.Gln804Valfs)deletionPathogenicrs80357674GRCh37Chr 17, 41245139: 41245142
588BRCA1NM_007294.3(BRCA1): c.2410C> T (p.Gln804Ter)single nucleotide variantPathogenicrs80356982GRCh37Chr 17, 41245138: 41245138
589BRCA1NM_007294.3(BRCA1): c.241C> T (p.Gln81Ter)single nucleotide variantPathogenicrs80357350GRCh37Chr 17, 41256945: 41256945
590BRCA1NM_007294.3(BRCA1): c.2437G> T (p.Gly813Ter)single nucleotide variantPathogenicrs80357186GRCh37Chr 17, 41245111: 41245111
591BRCA1NM_007294.3(BRCA1): c.2443delA (p.Ile815Phefs)deletionPathogenicrs80357598GRCh37Chr 17, 41245105: 41245105
592BRCA1NM_007294.3(BRCA1): c.2450delG (p.Gly817Valfs)deletionPathogenicrs80357679GRCh37Chr 17, 41245098: 41245098
593BRCA1NM_007294.3(BRCA1): c.2468delG (p.Arg823Lysfs)deletionPathogenicrs80357799GRCh37Chr 17, 41245080: 41245080
594BRCA1NM_007294.3(BRCA1): c.2476delA (p.Thr826Glnfs)deletionPathogenicrs80357631GRCh37Chr 17, 41245072: 41245072
595BRCA1NM_007294.3(BRCA1): c.2477_2478delCA (p.Thr826Argfs)deletionPathogenicrs80357800GRCh37Chr 17, 41245070: 41245071
596BRCA1NM_007294.3(BRCA1): c.2477delC (p.Thr826Lysfs)deletionPathogenicrs80357740GRCh37Chr 17, 41245071: 41245071
597BRCA1NM_007294.3(BRCA1): c.2487delT (p.Phe829Leufs)deletionPathogenicrs80357658GRCh37Chr 17, 41245061: 41245061
598BRCA1NM_007294.3(BRCA1): c.2513delA (p.Asn838Thrfs)deletionPathogenicrs80357863GRCh37Chr 17, 41245035: 41245035
599BRCA1NM_007294.3(BRCA1): c.2517_2518delCA (p.His839Glnfs)deletionPathogenicrs397508974GRCh37Chr 17, 41245030: 41245031
600BRCA1NM_007294.3(BRCA1): c.2545G> T (p.Glu849Ter)single nucleotide variantPathogenicrs80356951GRCh37Chr 17, 41245003: 41245003
601BRCA1NM_007294.3(BRCA1): c.2558dupA (p.Asp853Glufs)duplicationPathogenicrs80357835GRCh37Chr 17, 41244989: 41244990
602BRCA1NM_007294.3(BRCA1): c.2568T> G (p.Tyr856Ter)single nucleotide variantPathogenicrs80356832GRCh37Chr 17, 41244980: 41244980
603BRCA1NM_007294.3(BRCA1): c.2594delA (p.Lys865Serfs)deletionPathogenicrs397508984GRCh37Chr 17, 41244954: 41244954
604BRCA1NM_007294.3(BRCA1): c.2611_2612delCC (p.Pro871Valfs)deletionPathogenicrs80357962GRCh37Chr 17, 41244936: 41244937
605BRCA1NM_007294.3(BRCA1): c.2612_2613insT (p.Phe872Valfs)insertionPathogenicrs80357948GRCh37Chr 17, 41244935: 41244936
606BRCA1NM_007294.3(BRCA1): c.2617dupT (p.Ser873Phefs)duplicationPathogenicrs80357912GRCh37Chr 17, 41244930: 41244931
607BRCA1NM_007294.3(BRCA1): c.2646_2648delTGC (p.Cys882Ter)deletionPathogenicrs80357513GRCh37Chr 17, 41244900: 41244902
608BRCA1NM_007294.3(BRCA1): c.2670delG (p.Ser891Profs)deletionPathogenicrs80357659GRCh37Chr 17, 41244878: 41244878
609BRCA1NM_007294.3(BRCA1): c.2675_2678delTAAA (p.Leu892Terfs)deletionPathogenicrs80357518GRCh37Chr 17, 41244870: 41244873
610BRCA1NM_007294.3(BRCA1): c.2685_2686delAA (p.Pro897Lysfs)deletionPathogenicrs80357636GRCh37Chr 17, 41244862: 41244863
611BRCA1NM_007294.3(BRCA1): c.269_281delTTTGTGCTTTTCA (p.Ile90Serfs)deletionPathogenicrs80359879GRCh37Chr 17, 41256905: 41256917
612BRCA1NM_007294.3(BRCA1): c.2709delT (p.Cys903Trpfs)deletionPathogenicrs80357594GRCh37Chr 17, 41244839: 41244839
613BRCA1NM_007294.3(BRCA1): c.2719_2722delGAAG (p.Glu907Lysfs)deletionPathogenicrs80357731GRCh37Chr 17, 41244826: 41244829
614BRCA1NM_007294.3(BRCA1): c.2722G> T (p.Glu908Ter)single nucleotide variantPathogenicrs80356978GRCh37Chr 17, 41244826: 41244826
615BRCA1NM_007294.3(BRCA1): c.2726delA (p.Asn909Ilefs)deletionPathogenicrs80357614GRCh37Chr 17, 41244822: 41244822
616BRCA1NM_007294.3(BRCA1): c.2726dupA (p.Asn909Lysfs)duplicationPathogenicrs80357685GRCh37Chr 17, 41244821: 41244822
617BRCA1NM_007294.3(BRCA1): c.2727_2730delTCAA (p.Asn909Lysfs)deletionPathogenicrs80357605GRCh37Chr 17, 41244818: 41244821
618BRCA1NM_007294.3(BRCA1): c.2740G> T (p.Glu914Ter)single nucleotide variantPathogenicrs80357419GRCh37Chr 17, 41244808: 41244808
619BRCA1NM_007294.3(BRCA1): c.2749dupA (p.Ile917Asnfs)duplicationPathogenicrs80357942GRCh37Chr 17, 41244798: 41244799
620BRCA1NM_007294.3(BRCA1): c.2761C> T (p.Gln921Ter)single nucleotide variantPathogenicrs80357377GRCh37Chr 17, 41244787: 41244787
621BRCA1NM_007294.3(BRCA1): c.2762delA (p.Gln921Argfs)deletionPathogenicrs80357703GRCh37Chr 17, 41244786: 41244786
622BRCA1NM_007294.3(BRCA1): c.2764_2767delACAG (p.Thr922Leufs)deletionPathogenicrs80357822GRCh37Chr 17, 41244781: 41244784
623BRCA1NM_007294.3(BRCA1): c.2766delA (p.Val923Leufs)deletionPathogenicrs80357812GRCh37Chr 17, 41244782: 41244782
624BRCA1NM_007294.3(BRCA1): c.2767_2770delGTTA (p.Val923Ilefs)deletionPathogenicrs80357661GRCh37Chr 17, 41244778: 41244781
625BRCA1NM_007294.3(BRCA1): c.2796_2799delTGGT (p.Gly933Argfs)deletionPathogenicrs80357840GRCh37Chr 17, 41244749: 41244752
626BRCA1NM_007294.3(BRCA1): c.2800C> T (p.Gln934Ter)single nucleotide variantPathogenicrs80357223GRCh37Chr 17, 41244748: 41244748
627BRCA1NM_007294.3(BRCA1): c.2805delA (p.Asp936Ilefs)deletionPathogenicrs397509012GRCh37Chr 17, 41244743: 41244743
628BRCA1NM_007294.3(BRCA1): c.2812_2813delCCinsG (p.Pro938Glufs)indelPathogenicrs273899689GRCh37Chr 17, 41244735: 41244736
629BRCA1NM_007294.3(BRCA1): c.2832T> A (p.Cys944Ter)single nucleotide variantPathogenicrs80357458GRCh37Chr 17, 41244716: 41244716
630BRCA1NM_007294.3(BRCA1): c.2834_2836delGTAinsC (p.Ser945Thrfs)indelPathogenicrs386134270GRCh37Chr 17, 41244712: 41244714
631BRCA1NM_007294.3(BRCA1): c.2835dupT (p.Ile946Tyrfs)duplicationPathogenicrs80357519GRCh37Chr 17, 41244712: 41244713
632BRCA1NM_007294.3(BRCA1): c.2840_2841delAA (p.Lys947Argfs)deletionPathogenicrs80357984GRCh37Chr 17, 41244707: 41244708
633BRCA1NM_007294.3(BRCA1): c.2864C> A (p.Ser955Ter)single nucleotide variantPathogenicrs80357295GRCh37Chr 17, 41244684: 41244684
634BRCA1NM_007294.3(BRCA1): c.2866_2870delTCTCA (p.Ser956Valfs)deletionPathogenicrs80357961GRCh37Chr 17, 41244678: 41244682
635BRCA1NM_007294.3(BRCA1): c.2869C> T (p.Gln957Ter)single nucleotide variantPathogenicrs80356973GRCh37Chr 17, 41244679: 41244679
636BRCA1NM_007294.3(BRCA1): c.2887delA (p.Thr963Leufs)deletionPathogenicrs80357559GRCh37Chr 17, 41244661: 41244661
637BRCA1NM_007294.3(BRCA1): c.290_291delCA (p.Thr97Argfs)deletionPathogenicrs80357738GRCh37Chr 17, 41256895: 41256896
638BRCA1NM_007294.3(BRCA1): c.2910delA (p.Lys970Asnfs)deletionPathogenicrs80357893GRCh37Chr 17, 41244638: 41244638
639BRCA1NM_007294.3(BRCA1): c.2915delG (p.Gly972Aspfs)deletionPathogenicrs80357573GRCh37Chr 17, 41244633: 41244633
640BRCA1NM_007294.3(BRCA1): c.2920_2921delTT (p.Leu974Thrfs)deletionPathogenicrs80357611GRCh37Chr 17, 41244627: 41244628
641BRCA1NM_007294.3(BRCA1): c.2921T> A (p.Leu974Ter)single nucleotide variantPathogenicrs80356872GRCh37Chr 17, 41244627: 41244627
642BRCA1NM_007294.3(BRCA1): c.2923C> T (p.Gln975Ter)single nucleotide variantPathogenicrs80357497GRCh37Chr 17, 41244625: 41244625
643BRCA1NM_007294.3(BRCA1): c.2934delT (p.Arg979Valfs)deletionPathogenicrs80357741GRCh37Chr 17, 41244614: 41244614
644BRCA1NM_007294.3(BRCA1): c.2952delT (p.Ile986Serfs)deletionPathogenicrs80357627GRCh37Chr 17, 41244596: 41244596
645BRCA1NM_007294.3(BRCA1): c.2955delC (p.Ile986Serfs)deletionPathogenicrs397509027GRCh37Chr 17, 41244593: 41244593
646BRCA1NM_007294.3(BRCA1): c.2980delT (p.Cys994Valfs)deletionPathogenicrs80357502GRCh37Chr 17, 41244568: 41244568
647BRCA1NM_007294.3(BRCA1): c.2999delA (p.Glu1000Glyfs)deletionPathogenicrs80357991GRCh37Chr 17, 41244549: 41244549
648BRCA1NM_007294.3(BRCA1): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs80357111GRCh37Chr 17, 41276112: 41276112
649BRCA1NM_007294.3(BRCA1): c.2T> G (p.Met1Arg)single nucleotide variantPathogenicrs80357111GRCh37Chr 17, 41276112: 41276112
650BRCA1NM_007294.3(BRCA1): c.3008_3009delTT (p.Phe1003Terfs)deletionPathogenicrs80357617GRCh37Chr 17, 41244539: 41244540
651BRCA1NM_007294.3(BRCA1): c.3013delG (p.Glu1005Asnfs)deletionPathogenicrs80357937GRCh37Chr 17, 41244535: 41244535
652BRCA1NM_007294.3(BRCA1): c.3018_3021delTTCA (p.His1006Glnfs)deletionPathogenicrs80357749GRCh37Chr 17, 41244527: 41244530
653BRCA1NM_007294.3(BRCA1): c.302-1G> Asingle nucleotide variantPathogenicrs80358116GRCh37Chr 17, 41256279: 41256279
654BRCA1NM_007294.3(BRCA1): c.302-2delAdeletionPathogenicrs273899695GRCh37Chr 17, 41256280: 41256280
655BRCA1NM_007294.3(BRCA1): c.3020C> G (p.Ser1007Ter)single nucleotide variantPathogenicrs80357168GRCh37Chr 17, 41244528: 41244528
656BRCA1NM_007294.3(BRCA1): c.3026C> A (p.Ser1009Ter)single nucleotide variantPathogenicrs273899696GRCh37Chr 17, 41244522: 41244522
657BRCA1NM_007294.3(BRCA1): c.3029_3030delCT (p.Pro1010Argfs)deletionPathogenicrs80357510GRCh37Chr 17, 41244518: 41244519
658BRCA1NM_007294.3(BRCA1): c.303T> G (p.Tyr101Ter)single nucleotide variantPathogenicrs80356936GRCh37Chr 17, 41256277: 41256277
659BRCA1NM_007294.3(BRCA1): c.3048_3052dupTGAGA (p.Asn1018Metfs)insertionPathogenicrs80357856GRCh37Chr 17, 41244496: 41244500
660BRCA1NM_007294.3(BRCA1): c.3049G> T (p.Glu1017Ter)single nucleotide variantPathogenicrs80357004GRCh37Chr 17, 41244499: 41244499
661BRCA1NM_007294.3(BRCA1): c.3084_3094delTAATAACATTA (p.Asn1029Argfs)deletionPathogenicrs80357647GRCh37Chr 17, 41244454: 41244464
662BRCA1NM_007294.3(BRCA1): c.3097G> T (p.Glu1033Ter)single nucleotide variantPathogenicrs273899698GRCh37Chr 17, 41244451: 41244451
663BRCA1NM_007294.3(BRCA1): c.3107_3112delTTAAAG (p.Phe1036Ter)deletionPathogenicrs80357920GRCh37Chr 17, 41244436: 41244441
664BRCA1NM_007294.3(BRCA1): c.3108delT (p.Phe1036Leufs)deletionPathogenicrs80357841GRCh37Chr 17, 41244440: 41244440
665BRCA1NM_007294.3(BRCA1): c.3108dupT (p.Lys1037Terfs)duplicationPathogenicrs397507209GRCh37Chr 17, 41244439: 41244440
666BRCA1NM_007294.3(BRCA1): c.3178G> T (p.Glu1060Ter)single nucleotide variantPathogenicrs80357424GRCh37Chr 17, 41244370: 41244370
667BRCA1NM_007294.3(BRCA1): c.317delA (p.Asn106Ilefs)deletionPathogenicrs80357950GRCh37Chr 17, 41256263: 41256263
668BRCA1NM_007294.3(BRCA1): c.3181delA (p.Ile1061Terfs)deletionPathogenicrs80357702GRCh37Chr 17, 41244367: 41244367
669BRCA1NM_007294.3(BRCA1): c.3188_3189delCCinsG (p.Ser1063Terfs)indelPathogenicrs273899701GRCh37Chr 17, 41244359: 41244360
670BRCA1NM_007294.3(BRCA1): c.3193dupG (p.Asp1065Glyfs)duplicationPathogenicrs80357511GRCh37Chr 17, 41244354: 41244355
671BRCA1NM_007294.3(BRCA1): c.321delT (p.Phe107Leufs)deletionPathogenicrs80357544GRCh37Chr 17, 41256259: 41256259
672BRCA1NM_007294.3(BRCA1): c.3226delA (p.Arg1076Glufs)deletionPathogenicrs273899703GRCh37Chr 17, 41244322: 41244322
673BRCA1NM_007294.3(BRCA1): c.3239T> A (p.Leu1080Ter)single nucleotide variantPathogenicrs80357145GRCh37Chr 17, 41244309: 41244309
674BRCA1NM_007294.3(BRCA1): c.3253dupA (p.Arg1085Lysfs)duplicationPathogenicrs80357517GRCh37Chr 17, 41244294: 41244295
675BRCA1NM_007294.3(BRCA1): c.3255dupA (p.Leu1086Ilefs)duplicationPathogenicrs80357624GRCh37Chr 17, 41244292: 41244293
676BRCA1NM_007294.3(BRCA1): c.3257T> A (p.Leu1086Ter)single nucleotide variantPathogenicrs80357006GRCh37Chr 17, 41244291: 41244291
677BRCA1NM_007294.3(BRCA1): c.3257T> G (p.Leu1086Ter)single nucleotide variantPathogenicrs80357006GRCh37Chr 17, 41244291: 41244291
678BRCA1NM_007294.3(BRCA1): c.3257dupT (p.Leu1086Phefs)duplicationPathogenicrs80357858GRCh37Chr 17, 41244290: 41244291
679BRCA1NM_007294.3(BRCA1): c.3268C> T (p.Gln1090Ter)single nucleotide variantPathogenicrs80357402GRCh37Chr 17, 41244280: 41244280
680BRCA1NM_007294.3(BRCA1): c.3279delC (p.Tyr1094Ilefs)deletionPathogenicrs397509050GRCh37Chr 17, 41244269: 41244269
681BRCA1NM_007294.3(BRCA1): c.3286C> T (p.Gln1096Ter)single nucleotide variantPathogenicrs80357485GRCh37Chr 17, 41244262: 41244262
682BRCA1NM_007294.3(BRCA1): c.3286delC (p.Gln1096Lysfs)deletionPathogenicrs80357533GRCh37Chr 17, 41244262: 41244262
683BRCA1NM_007294.3(BRCA1): c.3288_3289delAA (p.Leu1098Serfs)deletionPathogenicrs80357686GRCh37Chr 17, 41244259: 41244260
684BRCA1NM_007294.3(BRCA1): c.3292_3293delCT (p.Leu1098Serfs)deletionPathogenicrs80357992GRCh37Chr 17, 41244255: 41244256
685BRCA1NM_007294.3(BRCA1): c.3296delC (p.Pro1099Leufs)deletionPathogenicrs80357815GRCh37Chr 17, 41244252: 41244252
686BRCA1NM_007294.3(BRCA1): c.329_330delAG (p.Lys110Argfs)deletionPathogenicrs80357754GRCh37Chr 17, 41256250: 41256251
687BRCA1NM_007294.3(BRCA1): c.329dupA (p.Glu111Glyfs)duplicationPathogenicrs80357604GRCh37Chr 17, 41256250: 41256251
688BRCA1NM_007294.3(BRCA1): c.32_33insC (p.Gln12Thrfs)insertionPathogenicrs80357811GRCh37Chr 17, 41276081: 41276082
689BRCA1NM_007294.3(BRCA1): c.3309T> A (p.Cys1103Ter)single nucleotide variantPathogenicrs80357317GRCh37Chr 17, 41244239: 41244239
690BRCA1NM_007294.3(BRCA1): c.3319G> T (p.Glu1107Ter)single nucleotide variantPathogenicrs80357106GRCh37Chr 17, 41244229: 41244229
691BRCA1NM_007294.3(BRCA1): c.3325_3329delAAAAA (p.Lys1109Alafs)deletionPathogenicrs80357680GRCh37Chr 17, 41244219: 41244223
692BRCA1NM_007294.3(BRCA1): c.3326_3329delAAAA (p.Lys1109Serfs)deletionPathogenicrs80357575GRCh37Chr 17, 41244219: 41244222
693BRCA1NM_007294.3(BRCA1): c.3329_3330delAG (p.Lys1110Thrfs)deletionPathogenicrs80357525GRCh37Chr 17, 41244218: 41244219
694BRCA1NM_007294.3(BRCA1): c.3329dupA (p.Gln1111Alafs)duplicationPathogenicrs80357692GRCh37Chr 17, 41244218: 41244219
695BRCA1NM_007294.3(BRCA1): c.3331C> T (p.Gln1111Ter)single nucleotide variantPathogenicrs80357089GRCh37Chr 17, 41244217: 41244217
696BRCA1NM_007294.3(BRCA1): c.3333delA (p.Glu1112Asnfs)deletionPathogenicrs80357966GRCh37Chr 17, 41244215: 41244215
697BRCA1NM_007294.3(BRCA1): c.3339T> G (p.Tyr1113Ter)single nucleotide variantPathogenicrs80357421GRCh37Chr 17, 41244209: 41244209
698BRCA1NM_007294.3(BRCA1): c.3340G> T (p.Glu1114Ter)single nucleotide variantPathogenicrs80357278GRCh37Chr 17, 41244208: 41244208
699BRCA1NM_007294.3(BRCA1): c.3342_3345delAGAA (p.Glu1115Terfs)deletionPathogenicrs397509058GRCh37Chr 17, 41244203: 41244206
700BRCA1NM_007294.3(BRCA1): c.3343delG (p.Glu1115Lysfs)deletionPathogenicrs273899705GRCh37Chr 17, 41244205: 41244205
701BRCA1NM_007294.3(BRCA1): c.3359_3360delTT (p.Val1120Glufs)deletionPathogenicrs80357843GRCh37Chr 17, 41244188: 41244189
702BRCA1NM_007294.3(BRCA1): c.3362delA (p.Asn1121Ilefs)deletionPathogenicrs80357865GRCh37Chr 17, 41244186: 41244186
703BRCA1NM_007294.3(BRCA1): c.3365_3366delCA (p.Thr1122Argfs)deletionPathogenicrs80357892GRCh37Chr 17, 41244182: 41244183
704BRCA1NM_007294.3(BRCA1): c.3375_3376delTC (p.Pro1126Ilefs)deletionPathogenicrs80357828GRCh37Chr 17, 41244172: 41244173
705BRCA1NM_007294.3(BRCA1): c.3390delA (p.Asp1131Ilefs)deletionPathogenicrs80357900GRCh37Chr 17, 41244158: 41244158
706BRCA1NM_007294.3(BRCA1): c.3397_3398delTT (p.Leu1133Argfs)deletionPathogenicrs80357577GRCh37Chr 17, 41244150: 41244151
707BRCA1NM_007294.3(BRCA1): c.3398T> A (p.Leu1133Ter)single nucleotide variantPathogenicrs80356971GRCh37Chr 17, 41244150: 41244150
708BRCA1NM_007294.3(BRCA1): c.3403C> T (p.Gln1135Ter)single nucleotide variantPathogenicrs80357136GRCh37Chr 17, 41244145: 41244145
709BRCA1NM_007294.3(BRCA1): c.3417delT (p.Ser1139Argfs)deletionPathogenicrs273899706GRCh37Chr 17, 41244131: 41244131
710BRCA1NM_007294.3(BRCA1): c.3424G> C (p.Ala1142Pro)single nucleotide variantPathogenicrs80357101GRCh37Chr 17, 41244124: 41244124
711BRCA1NM_007294.3(BRCA1): c.342_343delTC (p.Pro115Terfs)deletionPathogenicrs80357881GRCh37Chr 17, 41256237: 41256238
712BRCA1NM_007294.3(BRCA1): c.3430C> T (p.Gln1144Ter)single nucleotide variantPathogenicrs80357369GRCh37Chr 17, 41244118: 41244118
713BRCA1NM_007294.3(BRCA1): c.3436_3439delTGTT (p.Cys1146Leufs)deletionPathogenicrs397509067GRCh37Chr 17, 41244109: 41244112
714BRCA1NM_007294.3(BRCA1): c.3477_3479delAAAinsC (p.Lys1160Glyfs)indelPathogenicrs273899707GRCh37Chr 17, 41244069: 41244071
715BRCA1NM_007294.3(BRCA1): c.3477_3480delAAAG (p.Ile1159Metfs)deletionPathogenicrs80357781GRCh37Chr 17, 41244068: 41244071
716BRCA1NM_007294.3(BRCA1): c.34C> T (p.Gln12Ter)single nucleotide variantPathogenicrs80357134GRCh37Chr 17, 41276080: 41276080
717BRCA1NM_007294.3(BRCA1): c.3531delT (p.Phe1177Leufs)deletionPathogenicrs80357621GRCh37Chr 17, 41244017: 41244017
718BRCA1NM_007294.3(BRCA1): c.3544C> T (p.Gln1182Ter)single nucleotide variantPathogenicrs80357296GRCh37Chr 17, 41244004: 41244004
719BRCA1NM_007294.3(BRCA1): c.3549_3550delAGinsT (p.Lys1183Asnfs)indelPathogenicrs273899709GRCh37Chr 17, 41243998: 41243999
720BRCA1NM_007294.3(BRCA1): c.3569_3570delCT (p.Pro1190Glnfs)deletionPathogenicrs80357845GRCh37Chr 17, 41243978: 41243979
721BRCA1NM_007294.3(BRCA1): c.3580delA (p.Thr1194Profs)deletionPathogenicrs80357663GRCh37Chr 17, 41243968: 41243968
722BRCA1NM_007294.3(BRCA1): c.3586dupA (p.Thr1196Asnfs)duplicationPathogenicrs80357531GRCh37Chr 17, 41243961: 41243962
723BRCA1NM_007294.3(BRCA1): c.3598C> T (p.Gln1200Ter)single nucleotide variantPathogenicrs62625307GRCh37Chr 17, 41243950: 41243950
724BRCA1NM_007294.3(BRCA1): c.3619A> T (p.Lys1207Ter)single nucleotide variantPathogenicrs80357455GRCh37Chr 17, 41243929: 41243929
725BRCA1NM_007294.3(BRCA1): c.3626delT (p.Leu1209Terfs)deletionPathogenicrs80357571GRCh37Chr 17, 41243922: 41243922
726BRCA1NM_007294.3(BRCA1): c.3629_3630delAG (p.Glu1210Valfs)deletionPathogenicrs80357589GRCh37Chr 17, 41243918: 41243919
727BRCA1NM_007294.3(BRCA1): c.3640G> T (p.Glu1214Ter)single nucleotide variantPathogenicrs80356923GRCh37Chr 17, 41243908: 41243908
728BRCA1NM_007294.3(BRCA1): c.3642_3643delGA (p.Asn1215Leufs)deletionPathogenicrs80357805GRCh37Chr 17, 41243905: 41243906
729BRCA1NM_007294.3(BRCA1): c.3661G> T (p.Glu1221Ter)single nucleotide variantPathogenicrs80357310GRCh37Chr 17, 41243887: 41243887
730BRCA1NM_007294.3(BRCA1): c.3664G> T (p.Glu1222Ter)single nucleotide variantPathogenicrs80357356GRCh37Chr 17, 41243884: 41243884
731BRCA1NM_007294.3(BRCA1): c.3668_3671dupTTCC (p.Cys1225Serfs)duplicationPathogenicrs80357797GRCh37Chr 17, 41243877: 41243880
732BRCA1NM_007294.3(BRCA1): c.3676_3679delTTCC (p.Phe1226Asnfs)deletionPathogenicrs80357671GRCh37Chr 17, 41243869: 41243872
733BRCA1NM_007294.3(BRCA1): c.3699delA (p.Val1234Terfs)deletionPathogenicrs80357873GRCh37Chr 17, 41243849: 41243849
734BRCA1NM_007294.3(BRCA1): c.3706_3707delAA (p.Asn1236Tyrfs)deletionPathogenicrs80357666GRCh37Chr 17, 41243841: 41243842
735BRCA1NM_007294.3(BRCA1): c.3706_3713delAATATACC (p.Asn1236Phefs)deletionPathogenicrs80357552GRCh37Chr 17, 41243835: 41243842
736BRCA1NM_007294.3(BRCA1): c.3710delT (p.Ile1237Asnfs)deletionPathogenicrs80357564GRCh37Chr 17, 41243838: 41243838
737BRCA1NM_007294.3(BRCA1): c.3715_3717delTCTinsC (p.Ser1239Profs)indelPathogenicrs273900714GRCh37Chr 17, 41243831: 41243833
738BRCA1NM_007294.3(BRCA1): c.3718C> T (p.Gln1240Ter)single nucleotide variantPathogenicrs80356903GRCh37Chr 17, 41243830: 41243830
739BRCA1NM_007294.3(BRCA1): c.3722_3740del19 (p.Ser1241Leufs)deletionPathogenicrs80359882GRCh37Chr 17, 41243808: 41243826
740BRCA1NM_007294.3(BRCA1): c.3736delA (p.Thr1246Profs)deletionPathogenicrs80357578GRCh37Chr 17, 41243812: 41243812
741BRCA1NM_007294.3(BRCA1): c.3759dupT (p.Lys1254Terfs)duplicationPathogenicrs80357687GRCh37Chr 17, 41243788: 41243789
742BRCA1NM_007294.3(BRCA1): c.3760_3761insT (p.Lys1254Ilefs)insertionPathogenicrs80357986GRCh37Chr 17, 41243787: 41243788
743BRCA1NM_007294.3(BRCA1): c.3782delT (p.Leu1261Tyrfs)deletionPathogenicrs80357545GRCh37Chr 17, 41243766: 41243766
744BRCA1NM_007294.3(BRCA1): c.3785C> A (p.Ser1262Ter)single nucleotide variantPathogenicrs80357269GRCh37Chr 17, 41243763: 41243763
745BRCA1NM_007294.3(BRCA1): c.3794delA (p.Asn1265Ilefs)deletionPathogenicrs80357767GRCh37Chr 17, 41243754: 41243754
746BRCA1NM_007294.3(BRCA1): c.37_40delAATG (p.Asn13Serfs)deletionPathogenicrs80357530GRCh37Chr 17, 41276074: 41276077
747BRCA1NM_007294.3(BRCA1): c.3817C> T (p.Gln1273Ter)single nucleotide variantPathogenicrs80357208GRCh37Chr 17, 41243731: 41243731
748BRCA1NM_007294.3(BRCA1): c.3820dupG (p.Val1274Glyfs)duplicationPathogenicrs80357616GRCh37Chr 17, 41243727: 41243728
749BRCA1NM_007294.3(BRCA1): c.3839_3843delCTCAGinsAGGC (p.Ser1280Terfs)indelPathogenicrs273900717GRCh37Chr 17, 41243705: 41243709
750BRCA1NM_007294.3(BRCA1): c.3841C> T (p.Gln1281Ter)single nucleotide variantPathogenicrs80356866GRCh37Chr 17, 41243707: 41243707
751BRCA1NM_007294.3(BRCA1): c.3841_3842delCA (p.Gln1281Glyfs)deletionPathogenicrs80357584GRCh37Chr 17, 41243706: 41243707
752BRCA1NM_007294.3(BRCA1): c.3856delA (p.Ser1286Valfs)deletionPathogenicrs80357855GRCh37Chr 17, 41243692: 41243692
753BRCA1NM_007294.3(BRCA1): c.3862delG (p.Glu1288Lysfs)deletionPathogenicrs273900718GRCh37Chr 17, 41243686: 41243686
754BRCA1NM_007294.3(BRCA1): c.3869_3870delAA (p.Lys1290Metfs)deletionPathogenicrs80357918GRCh37Chr 17, 41243678: 41243679
755BRCA1NM_007294.3(BRCA1): c.3893C> A (p.Ser1298Ter)single nucleotide variantPathogenicrs80357440GRCh37Chr 17, 41243655: 41243655
756BRCA1NM_007294.3(BRCA1): c.3895C> T (p.Gln1299Ter)single nucleotide variantPathogenicrs80357038GRCh37Chr 17, 41243653: 41243653
757BRCA1NM_007294.3(BRCA1): c.3901_3902delAG (p.Ser1301Terfs)deletionPathogenicrs80357646GRCh37Chr 17, 41243646: 41243647
758BRCA1NM_007294.3(BRCA1): c.3904G> T (p.Glu1302Ter)single nucleotide variantPathogenicrs80357461GRCh37Chr 17, 41243644: 41243644
759BRCA1NM_007294.3(BRCA1): c.390C> A (p.Tyr130Ter)single nucleotide variantPathogenicrs80356888GRCh37Chr 17, 41256190: 41256190
760BRCA1NM_007294.3(BRCA1): c.3916_3917delTT (p.Leu1306Aspfs)deletionPathogenicrs80357678GRCh37Chr 17, 41243631: 41243632
761BRCA1NM_007294.3(BRCA1): c.391A> T (p.Arg131Ter)single nucleotide variantPathogenicrs80357207GRCh37Chr 17, 41256189: 41256189
762BRCA1NM_007294.3(BRCA1): c.3931_3934delAACA (p.Asn1311Profs)deletionPathogenicrs80357864GRCh37Chr 17, 41243614: 41243617
763BRCA1NM_007294.3(BRCA1): c.3932delA (p.Asn1311Thrfs)deletionPathogenicrs80357504GRCh37Chr 17, 41243616: 41243616
764BRCA1NM_007294.3(BRCA1): c.3964A> T (p.Lys1322Ter)single nucleotide variantPathogenicrs80357343GRCh37Chr 17, 41243584: 41243584
765BRCA1NM_007294.3(BRCA1): c.3966delA (p.Lys1322Asnfs)deletionPathogenicrs80357979GRCh37Chr 17, 41243582: 41243582
766BRCA1NM_007294.3(BRCA1): c.3967C> T (p.Gln1323Ter)single nucleotide variantPathogenicrs80357262GRCh37Chr 17, 41243581: 41243581
767BRCA1NM_007294.3(BRCA1): c.3972delG (p.Met1324Ilefs)deletionPathogenicrs80357987GRCh37Chr 17, 41243576: 41243576
768BRCA1NM_007294.3(BRCA1): c.3973delA (p.Arg1325Glyfs)deletionPathogenicrs80357904GRCh37Chr 17, 41243575: 41243575
769BRCA1NM_007294.3(BRCA1): c.3G> T (p.Met1Ile)single nucleotide variantPathogenicrs80357475GRCh37Chr 17, 41276111: 41276111
770BRCA1NM_007294.3(BRCA1): c.4037_4038delAA (p.Gly1348Asnfs)deletionPathogenicrs273900721GRCh37Chr 17, 41243510: 41243511
771BRCA1NM_007294.3(BRCA1): c.4041_4042delAG (p.Gly1348Asnfs)deletionPathogenicrs80357727GRCh37Chr 17, 41243506: 41243507
772BRCA1NM_007294.3(BRCA1): c.4052T> A (p.Leu1351Ter)single nucleotide variantPathogenicrs397509132GRCh37Chr 17, 41243496: 41243496
773BRCA1NM_007294.3(BRCA1): c.4052dupT (p.Leu1351Phefs)duplicationPathogenicrs80357779GRCh37Chr 17, 41243495: 41243496
774BRCA1NM_007294.3(BRCA1): c.4057G> T (p.Glu1353Ter)single nucleotide variantPathogenicrs80357178GRCh37Chr 17, 41243491: 41243491
775BRCA1NM_007294.3(BRCA1): c.406dupA (p.Arg136Lysfs)duplicationPathogenicrs80357709GRCh37Chr 17, 41256173: 41256174
776BRCA1NM_007294.3(BRCA1): c.4075C> T (p.Gln1359Ter)single nucleotide variantPathogenicrs80357456GRCh37Chr 17, 41243473: 41243473
777BRCA1NM_007294.3(BRCA1): c.4085delA (p.Asp1362Valfs)deletionPathogenicrs80357737GRCh37Chr 17, 41243463: 41243463
778BRCA1NM_007294.3(BRCA1): c.4097-2A> Gsingle nucleotide variantPathogenicrs80358019GRCh37Chr 17, 41243051: 41243051
779BRCA1NM_007294.3(BRCA1): c.4122_4123delTG (p.Ser1374Argfs)deletionPathogenicrs80357691GRCh37Chr 17, 41243023: 41243024
780BRCA1NM_007294.3(BRCA1): c.4123G> T (p.Glu1375Ter)single nucleotide variantPathogenicrs80357397GRCh37Chr 17, 41243023: 41243023
781BRCA1NM_007294.3(BRCA1): c.412_418delCTACAGA (p.Leu138Valfs)deletionPathogenicrs80357816GRCh37Chr 17, 41256162: 41256168
782BRCA1NM_007294.3(BRCA1): c.415C> T (p.Gln139Ter)single nucleotide variantPathogenicrs80357372GRCh37Chr 17, 41256165: 41256165
783BRCA1NM_007294.3(BRCA1): c.4161_4162delTC (p.Gln1388Glufs)deletionPathogenicrs80357565GRCh37Chr 17, 41242984: 41242985
784BRCA1NM_007294.3(BRCA1): c.4163_4166delAGAG (p.Gln1388Leufs)deletionPathogenicrs80357532GRCh37Chr 17, 41242980: 41242983
785BRCA1NM_007294.3(BRCA1): c.4165_4166delAG (p.Ser1389Terfs)deletionPathogenicrs80357572GRCh37Chr 17, 41242980: 41242981
786BRCA1NM_007294.3(BRCA1): c.4167_4170delTGAC (p.Ser1389Argfs)deletionPathogenicrs80357538GRCh37Chr 17, 41242976: 41242979
787BRCA1NM_007294.3(BRCA1): c.4183C> T (p.Gln1395Ter)single nucleotide variantPathogenicrs80357260GRCh37Chr 17, 41242963: 41242963
788BRCA1NM_007294.3(BRCA1): c.4185+1G> Tsingle nucleotide variantPathogenicrs80358076GRCh37Chr 17, 41242960: 41242960
789BRCA1NM_007294.3(BRCA1): c.4185G> A (p.Gln1395=)single nucleotide variantPathogenicrs80356857GRCh37Chr 17, 41242961: 41242961
790BRCA1NM_007294.3(BRCA1): c.4186C> T (p.Gln1396Ter)single nucleotide variantPathogenicrs80357011GRCh37Chr 17, 41234592: 41234592
791BRCA1NM_007294.3(BRCA1): c.4195_4196delAC (p.Thr1399Hisfs)deletionPathogenicrs80357649GRCh37Chr 17, 41234582: 41234583
792BRCA1NM_007294.3(BRCA1): c.4201C> T (p.Gln1401Ter)single nucleotide variantPathogenicrs397509151GRCh37Chr 17, 41234577: 41234577
793BRCA1NM_007294.3(BRCA1): c.4210delC (p.Leu1404Terfs)deletionPathogenicrs80357765GRCh37Chr 17, 41234568: 41234568
794BRCA1NM_007294.3(BRCA1): c.4222C> T (p.Gln1408Ter)single nucleotide variantPathogenicrs80356989GRCh37Chr 17, 41234556: 41234556
795BRCA1NM_007294.3(BRCA1): c.4258C> T (p.Gln1420Ter)single nucleotide variantPathogenicrs80357305GRCh37Chr 17, 41234520: 41234520
796BRCA1NM_007294.3(BRCA1): c.4300dupA (p.Ser1434Lysfs)duplicationPathogenicrs80357790GRCh37Chr 17, 41234477: 41234478
797BRCA1NM_007294.3(BRCA1): c.4321dupG (p.Asp1441Glyfs)duplicationPathogenicrs80357748GRCh37Chr 17, 41234456: 41234457
798BRCA1NM_007294.3(BRCA1): c.4331_4338delATCCAGAA (p.Asn1444Thrfs)deletionPathogenicrs80357825GRCh37Chr 17, 41234440: 41234447
799BRCA1NM_007294.3(BRCA1): c.4339C> T (p.Gln1447Ter)single nucleotide variantPathogenicrs80357067GRCh37Chr 17, 41234439: 41234439
800BRCA1NM_007294.3(BRCA1): c.4357+1G> Csingle nucleotide variantPathogenicrs80358027GRCh37Chr 17, 41234420: 41234420
801BRCA1NM_007294.3(BRCA1): c.4357+1G> Tsingle nucleotide variantPathogenicrs80358027GRCh37Chr 17, 41234420: 41234420
802BRCA1NM_007294.3(BRCA1): c.4357+2T> Csingle nucleotide variantPathogenicrs80358152GRCh37Chr 17, 41234419: 41234419
803BRCA1NM_007294.3(BRCA1): c.4370C> G (p.Ser1457Ter)single nucleotide variantPathogenicrs80357130GRCh37Chr 17, 41228619: 41228619
804BRCA1NM_007294.3(BRCA1): c.4372C> T (p.Gln1458Ter)single nucleotide variantPathogenicrs80356932GRCh37Chr 17, 41228617: 41228617
805BRCA1NM_007294.3(BRCA1): c.4389C> A (p.Tyr1463Ter)single nucleotide variantPathogenicrs80356997GRCh37Chr 17, 41228600: 41228600
806BRCA1NM_007294.3(BRCA1): c.4391_4403delCTATAAGCCAGAAinsTT (p.Pro1464Leufs)indelPathogenicrs273900731GRCh37Chr 17, 41228586: 41228598
807BRCA1NM_007294.3(BRCA1): c.4480G> T (p.Glu1494Ter)single nucleotide variantPathogenicrs80357148GRCh37Chr 17, 41228509: 41228509
808BRCA1NM_007294.3(BRCA1): c.4485-1G> Asingle nucleotide variantPathogenicrs80358189GRCh37Chr 17, 41226539: 41226539
809BRCA1NM_007294.3(BRCA1): c.4485-2A> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs80358054GRCh37Chr 17, 41226540: 41226540
810BRCA1NM_007294.3(BRCA1): c.4487C> A (p.Ser1496Ter)single nucleotide variantPathogenicrs80356953GRCh37Chr 17, 41226536: 41226536
811BRCA1NM_007294.3(BRCA1): c.4487C> G (p.Ser1496Ter)single nucleotide variantPathogenicrs80356953GRCh37Chr 17, 41226536: 41226536
812BRCA1NM_007294.3(BRCA1): c.4508C> A (p.Ser1503Ter)single nucleotide variantPathogenicrs80357437GRCh37Chr 17, 41226515: 41226515
813BRCA1NM_007294.3(BRCA1): c.4516delG (p.Asp1506Ilefs)deletionPathogenicrs273900736GRCh37Chr 17, 41226507: 41226507
814BRCA1NM_007294.3(BRCA1): c.4524G> A (p.Trp1508Ter)single nucleotide variantPathogenicrs80356885GRCh37Chr 17, 41226499: 41226499
815BRCA1NM_007294.3(BRCA1): c.4533_4534delCA (p.His1511Glnfs)deletionPathogenicrs80357534GRCh37Chr 17, 41226489: 41226490
816BRCA1NM_007294.3(BRCA1): c.4552C> T (p.Gln1518Ter)single nucleotide variantPathogenicrs80356881GRCh37Chr 17, 41226471: 41226471
817BRCA1NM_007294.3(BRCA1): c.4574_4575delAA (p.Gln1525Argfs)deletionPathogenicrs80357813GRCh37Chr 17, 41226448: 41226449
818BRCA1NM_007294.3(BRCA1): c.4595_4596insCT (p.Asp1533Leufs)insertionPathogenicrs80357699GRCh37Chr 17, 41226427: 41226428
819BRCA1NM_007294.3(BRCA1): c.4603G> T (p.Glu1535Ter)single nucleotide variantPathogenicrs80357366GRCh37Chr 17, 41226420: 41226420
820BRCA1NM_007294.3(BRCA1): c.4609C> T (p.Gln1537Ter)single nucleotide variantPathogenicrs80357229GRCh37Chr 17, 41226414: 41226414
821BRCA1NM_007294.3(BRCA1): c.4611_4612insG (p.Gln1538Alafs)insertionPathogenicrs80357915GRCh37Chr 17, 41226411: 41226412
822BRCA1NM_007294.3(BRCA1): c.4612C> T (p.Gln1538Ter)single nucleotide variantPathogenicrs80356992GRCh37Chr 17, 41226411: 41226411
823BRCA1NM_007294.3(BRCA1): c.4618G> T (p.Glu1540Ter)single nucleotide variantPathogenicrs80357277GRCh37Chr 17, 41226405: 41226405
824BRCA1NM_007294.3(BRCA1): c.4621G> T (p.Glu1541Ter)single nucleotide variantPathogenicrs80357248GRCh37Chr 17, 41226402: 41226402
825BRCA1NM_007294.3(BRCA1): c.4625_4626delCT (p.Ser1542Trpfs)deletionPathogenicrs80357542GRCh37Chr 17, 41226397: 41226398
826BRCA1NM_007294.3(BRCA1): c.4655_4658delACTT (p.Tyr1552Cysfs)deletionPathogenicrs80357561GRCh37Chr 17, 41226365: 41226368
827BRCA1NM_007294.3(BRCA1): c.4675+1G> Asingle nucleotide variantPathogenicrs80358044GRCh37Chr 17, 41226347: 41226347
828BRCA1NM_007294.3(BRCA1): c.4678G> T (p.Gly1560Ter)single nucleotide variantPathogenicrs80357349GRCh37Chr 17, 41223253: 41223253
829BRCA1NM_007294.3(BRCA1): c.4712_4716delTCTCT (p.Phe1571Terfs)deletionPathogenicrs80357718GRCh37Chr 17, 41223215: 41223219
830BRCA1NM_007294.3(BRCA1): c.4745delA (p.Asp1582Alafs)deletionPathogenicrs80357907GRCh37Chr 17, 41223186: 41223186
831BRCA1NM_007294.3(BRCA1): c.4754_4755delCA (p.Pro1585Argfs)deletionPathogenicrs80357837GRCh37Chr 17, 41223176: 41223177
832BRCA1NM_007294.3(BRCA1): c.4801A> T (p.Lys1601Ter)single nucleotide variantPathogenicrs80357303GRCh37Chr 17, 41223130: 41223130
833BRCA1NM_007294.3(BRCA1): c.4810C> T (p.Gln1604Ter)single nucleotide variantPathogenicrs80357352GRCh37Chr 17, 41223121: 41223121
834BRCA1NM_007294.3(BRCA1): c.485_486delTG (p.Val162Glufs)deletionPathogenicrs80357708GRCh37Chr 17, 41251853: 41251854
835BRCA1NM_007294.3(BRCA1): c.4903G> T (p.Glu1635Ter)single nucleotide variantPathogenicrs200432771GRCh37Chr 17, 41223028: 41223028
836BRCA1NM_007294.3(BRCA1): c.4936delG (p.Val1646Serfs)deletionPathogenicrs80357705GRCh37Chr 17, 41222995: 41222995
837BRCA1NM_007294.3(BRCA1): c.493delC (p.Leu165Terfs)deletionPathogenicrs80357551GRCh37Chr 17, 41251846: 41251846
838BRCA1NM_007294.3(BRCA1): c.4941delC (p.Asn1647Lysfs)deletionPathogenicrs80357905GRCh37Chr 17, 41222990: 41222990
839BRCA1NM_007294.3(BRCA1): c.494dupT (p.Arg166Glufs)duplicationPathogenicrs80357762GRCh37Chr 17, 41251844: 41251845
840BRCA1NM_007294.3(BRCA1): c.4981G> T (p.Glu1661Ter)single nucleotide variantPathogenicrs80357401GRCh37Chr 17, 41222950: 41222950
841BRCA1NM_007294.3(BRCA1): c.4986+3G> Csingle nucleotide variantPathogenicrs80358023GRCh37Chr 17, 41222942: 41222942
842BRCA1NM_007294.3(BRCA1): c.4986+4A> Tsingle nucleotide variantPathogenicrs80358087GRCh37Chr 17, 41222941: 41222941
843BRCA1NM_007294.3(BRCA1): c.4986+6T> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs80358086GRCh37Chr 17, 41222939: 41222939
844BRCA1NM_007294.3(BRCA1): c.4999A> T (p.Lys1667Ter)single nucleotide variantPathogenicrs80357204GRCh37Chr 17, 41219700: 41219700
845BRCA1NM_007294.3(BRCA1): c.5005delG (p.Ala1669Profs)deletionPathogenicrs80357938GRCh37Chr 17, 41219694: 41219694
846BRCA1NM_007294.3(BRCA1): c.5026_5036delTTAACTAATCT (p.Leu1676Asnfs)deletionPathogenicrs80357894GRCh37Chr 17, 41219663: 41219673
847BRCA1NM_007294.3(BRCA1): c.5035delC (p.Leu1679Terfs)deletionPathogenicrs80357896GRCh37Chr 17, 41219664: 41219664
848BRCA1NM_007294.3(BRCA1): c.5040delT (p.Thr1681Leufs)deletionPathogenicrs80357673GRCh37Chr 17, 41219659: 41219659
849BRCA1NM_007294.3(BRCA1): c.5047G> T (p.Glu1683Ter)single nucleotide variantPathogenicrs80356879GRCh37Chr 17, 41219652: 41219652
850BRCA1NM_007294.3(BRCA1): c.505C> T (p.Gln169Ter)single nucleotide variantPathogenicrs80357133GRCh37Chr 17, 41251834: 41251834
851BRCA1NM_007294.3(BRCA1): c.5062_5064delGTT (p.Val1688del)deletionPathogenicrs80358344GRCh37Chr 17, 41219635: 41219637
852BRCA1NM_007294.3(BRCA1): c.5071dupA (p.Thr1691Asnfs)duplicationPathogenicrs80357672GRCh37Chr 17, 41219627: 41219628
853BRCA1NM_007294.3(BRCA1): c.5074G> T (p.Asp1692Tyr)single nucleotide variantPathogenicrs80187739GRCh37Chr 17, 41219625: 41219625
854BRCA1NM_007294.3(BRCA1): c.5075-1G> Asingle nucleotide variantPathogenicrs1800747GRCh37Chr 17, 41215969: 41215969
855BRCA1NM_007294.3(BRCA1): c.5075-2A> Csingle nucleotide variantPathogenicrs80358066GRCh37Chr 17, 41215970: 41215970
856BRCA1NM_007294.3(BRCA1): c.5075-2A> Tsingle nucleotide variantPathogenicrs80358066GRCh37Chr 17, 41215970: 41215970
857BRCA1NM_007294.3(BRCA1): c.5080G> T (p.Glu1694Ter)single nucleotide variantPathogenicrs80356896GRCh37Chr 17, 41215963: 41215963
858BRCA1NM_007294.3(BRCA1): c.5084_5085delTT (p.Phe1695Cysfs)deletionPathogenicrs80357760GRCh37Chr 17, 41215958: 41215959
859BRCA1NM_007294.3(BRCA1): c.5091_5092delTG (p.Cys1697Terfs)deletionPathogenicrs80357710GRCh37Chr 17, 41215951: 41215952
860BRCA1NM_007294.3(BRCA1): c.5095C> T (p.Arg1699Trp)single nucleotide variantPathogenicrs55770810GRCh37Chr 17, 41215948: 41215948
861BRCA1NM_007294.3(BRCA1): c.5102_5103delTG (p.Leu1701Glnfs)deletionPathogenicrs80357608GRCh37Chr 17, 41215940: 41215941
862BRCA1NM_007294.3(BRCA1): c.5106delA (p.Lys1702Asnfs)deletionPathogenicrs80357553GRCh37Chr 17, 41215937: 41215937
863BRCA1NM_007294.3(BRCA1): c.5109T> G (p.Tyr1703Ter)single nucleotide variantPathogenicrs80356974GRCh37Chr 17, 41215934: 41215934
864BRCA1NM_007294.3(BRCA1): c.5123C> A (p.Ala1708Glu)single nucleotide variantPathogenicrs28897696GRCh37Chr 17, 41215920: 41215920
865BRCA1NM_007294.3(BRCA1): c.5126delG (p.Gly1709Glufs)deletionPathogenicrs80357874GRCh37Chr 17, 41215917: 41215917
866BRCA1NM_007294.3(BRCA1): c.5136G> A (p.Trp1712Ter)single nucleotide variantPathogenicrs80357418GRCh37Chr 17, 41215907: 41215907
867BRCA1NM_007294.3(BRCA1): c.5137delG (p.Val1713Terfs)deletionPathogenicrs80357997GRCh37Chr 17, 41215906: 41215906
868BRCA1NM_007294.3(BRCA1): c.5143A> T (p.Ser1715Cys)single nucleotide variantLikely pathogenicrs80357222GRCh37Chr 17, 41215900: 41215900
869BRCA1NM_007294.3(BRCA1): c.514C> T (p.Gln172Ter)single nucleotide variantPathogenicrs80356947GRCh37Chr 17, 41251825: 41251825
870BRCA1NM_007294.3(BRCA1): c.514delC (p.Gln172Asnfs)deletionPathogenicrs80357872GRCh37Chr 17, 41251825: 41251825
871BRCA1NM_007294.3(BRCA1): c.5150delT (p.Phe1717Serfs)deletionPathogenicrs80357720GRCh37Chr 17, 41215893: 41215893
872BRCA1NM_007294.3(BRCA1): c.5152+1G> Tsingle nucleotide variantPathogenicrs80358094GRCh37Chr 17, 41215890: 41215890
873BRCA1NM_007294.3(BRCA1): c.5152+2dupTduplicationLikely pathogenicrs397509231GRCh37Chr 17, 41215888: 41215889
874BRCA1NM_007294.3(BRCA1): c.5152+3A> Csingle nucleotide variantPathogenicrs80358124GRCh37Chr 17, 41215888: 41215888
875BRCA1NM_007294.3(BRCA1): c.5152+5G> Asingle nucleotide variantLikely pathogenicrs80358165GRCh37Chr 17, 41215886: 41215886
876BRCA1NM_007294.3(BRCA1): c.5153-1G> Asingle nucleotide variantPathogenicrs80358137GRCh37Chr 17, 41215391: 41215391
877BRCA1NM_007294.3(BRCA1): c.5153-2delAdeletionPathogenicrs273901746GRCh37Chr 17, 41215392: 41215392
878BRCA1NM_007294.3(BRCA1): c.5153G> A (p.Trp1718Ter)single nucleotide variantPathogenicrs41293461GRCh37Chr 17, 41215390: 41215390
879BRCA1NM_007294.3(BRCA1): c.5154G> A (p.Trp1718Ter)single nucleotide variantPathogenicrs80357239GRCh37Chr 17, 41215389: 41215389
880BRCA1NM_007294.3(BRCA1): c.5154G> T (p.Trp1718Cys)single nucleotide variantLikely pathogenicrs80357239GRCh37Chr 17, 41215389: 41215389
881BRCA1NM_007294.3(BRCA1): c.5155delG (p.Val1719Terfs)deletionPathogenicrs80357743GRCh37Chr 17, 41215388: 41215388
882BRCA1NM_007294.3(BRCA1): c.5156_5157delTG (p.Val1719Aspfs)deletionPathogenicrs80357895GRCh37Chr 17, 41215386: 41215387
883BRCA1NM_007294.3(BRCA1): c.5165C> T (p.Ser1722Phe)single nucleotide variantPathogenicrs80357104GRCh37Chr 17, 41215378: 41215378
884BRCA1NM_007294.3(BRCA1): c.5173G> T (p.Glu1725Ter)single nucleotide variantPathogenicrs80357291GRCh37Chr 17, 41215370: 41215370
885BRCA1NM_007294.3(BRCA1): c.5177_5178delGA (p.Arg1726Lysfs)deletionPathogenicrs80357730GRCh37Chr 17, 41215365: 41215366
886BRCA1NM_007294.3(BRCA1): c.5193+2delTdeletionPathogenicrs273901751GRCh37Chr 17, 41215348: 41215348
887BRCA1NM_007294.3(BRCA1): c.5209A> T (p.Arg1737Ter)single nucleotide variantPathogenicrs80357496GRCh37Chr 17, 41209137: 41209137
888BRCA1NM_007294.3(BRCA1): c.5209_5248del40insTC (p.Arg1737Serfs)indelPathogenicrs273901753GRCh37Chr 17, 41209098: 41209137
889BRCA1NM_007294.3(BRCA1): c.520delC (p.Gln174Lysfs)deletionPathogenicrs80357639GRCh37Chr 17, 41251819: 41251819
890BRCA1NM_007294.3(BRCA1): c.5213G> A (p.Gly1738Glu)single nucleotide variantLikely pathogenicrs80357450GRCh37Chr 17, 41209133: 41209133
891BRCA1NM_007294.3(BRCA1): c.5229_5230delAA (p.Arg1744Lysfs)deletionPathogenicrs80357852GRCh37Chr 17, 41209116: 41209117
892BRCA1NM_007294.3(BRCA1): c.5239C> T (p.Gln1747Ter)single nucleotide variantPathogenicrs80357367GRCh37Chr 17, 41209107: 41209107
893BRCA1NM_007294.3(BRCA1): c.5243delG (p.Gly1748Valfs)deletionPathogenicrs80357676GRCh37Chr 17, 41209103: 41209103
894BRCA1NM_007294.3(BRCA1): c.5251C> T (p.Arg1751Ter)single nucleotide variantPathogenicrs80357123GRCh37Chr 17, 41209095: 41209095
895BRCA1NM_007294.3(BRCA1): c.5260G> T (p.Glu1754Ter)single nucleotide variantPathogenicrs80357432GRCh37Chr 17, 41209086: 41209086
896BRCA1NM_007294.3(BRCA1): c.5274delA (p.Lys1759Argfs)deletionPathogenicrs80357732GRCh37Chr 17, 41209072: 41209072
897BRCA1NM_007294.3(BRCA1): c.5277G> A (p.Lys1759=)single nucleotide variantPathogenicrs80356854GRCh37Chr 17, 41209069: 41209069
898BRCA1NM_007294.3(BRCA1): c.5278-1G> Asingle nucleotide variantPathogenicrs80358099GRCh37Chr 17, 41203135: 41203135
899BRCA1NM_007294.3(BRCA1): c.5278-1G> Csingle nucleotide variantPathogenicrs80358099GRCh37Chr 17, 41203135: 41203135
900BRCA1NM_007294.3(BRCA1): c.5278-1G> Tsingle nucleotide variantPathogenicrs80358099GRCh37Chr 17, 41203135: 41203135
901BRCA1NM_007294.3(BRCA1): c.5284delA (p.Arg1762Glyfs)deletionPathogenicrs80357684GRCh37Chr 17, 41203128: 41203128
902BRCA1NM_007294.3(BRCA1): c.529delT (p.Ser177Leufs)deletionPathogenicrs80357758GRCh37Chr 17, 41251810: 41251810
903BRCA1NM_007294.3(BRCA1): c.5319dupC (p.Asn1774Glnfs)duplicationPathogenicrs80357823GRCh37Chr 17, 41203092: 41203093
904BRCA1NM_007294.3(BRCA1): c.5320_5321delAA (p.Asn1774Hisfs)deletionPathogenicrs80357818GRCh37Chr 17, 41203091: 41203092
905BRCA1NM_007294.3(BRCA1): c.5328dupC (p.Thr1777Hisfs)duplicationPathogenicrs80357751GRCh37Chr 17, 41203083: 41203084
906BRCA1NM_007294.3(BRCA1): c.5332+1G> Asingle nucleotide variantPathogenicrs80358041GRCh37Chr 17, 41203079: 41203079
907BRCA1NM_007294.3(BRCA1): c.5333-1G> Csingle nucleotide variantPathogenicrs80358126GRCh37Chr 17, 41201212: 41201212
908BRCA1NM_007294.3(BRCA1): c.5333-2A> Tsingle nucleotide variantLikely pathogenicrs397509264GRCh37Chr 17, 41201213: 41201213
909BRCA1NM_007294.3(BRCA1): c.5341G> T (p.Glu1781Ter)single nucleotide variantPathogenicrs397509268GRCh37Chr 17, 41201203: 41201203
910BRCA1NM_007294.3(BRCA1): c.5341delG (p.Glu1781Asnfs)deletionPathogenicrs80357694GRCh37Chr 17, 41201203: 41201203
911BRCA1NM_007294.3(BRCA1): c.5345G> A (p.Trp1782Ter)single nucleotide variantPathogenicrs80357219GRCh37Chr 17, 41201199: 41201199
912BRCA1NM_007294.3(BRCA1): c.5353C> T (p.Gln1785Ter)single nucleotide variantPathogenicrs80356969GRCh37Chr 17, 41201191: 41201191
913BRCA1NM_007294.3(BRCA1): c.5359T> A (p.Cys1787Ser)single nucleotide variantPathogenicrs80357065GRCh37Chr 17, 41201185: 41201185
914BRCA1NM_007294.3(BRCA1): c.5363G> A (p.Gly1788Asp)single nucleotide variantPathogenicrs80357069GRCh37Chr 17, 41201181: 41201181
915BRCA1NM_007294.3(BRCA1): c.5406+5G> Asingle nucleotide variantPathogenicrs80358073GRCh37Chr 17, 41201133: 41201133
916BRCA1NM_007294.3(BRCA1): c.5407-2A> Gsingle nucleotide variantPathogenicrs80358002GRCh37Chr 17, 41199722: 41199722
917BRCA1NM_007294.3(BRCA1): c.5440delG (p.Ala1814Profs)deletionPathogenicrs80357946GRCh37Chr 17, 41199687: 41199687
918BRCA1NM_007294.3(BRCA1): c.5444G> A (p.Trp1815Ter)single nucleotide variantPathogenicrs80356962GRCh37Chr 17, 41199683: 41199683
919BRCA1NM_007294.3(BRCA1): c.5445G> A (p.Trp1815Ter)single nucleotide variantPathogenicrs397509284GRCh37Chr 17, 41199682: 41199682
920BRCA1NM_007294.3(BRCA1): c.5449G> T (p.Glu1817Ter)single nucleotide variantPathogenicrs80356868GRCh37Chr 17, 41199678: 41199678
921BRCA1NM_007294.3(BRCA1): c.547+1G> Tsingle nucleotide variantPathogenicrs80358030GRCh37Chr 17, 41251791: 41251791
922BRCA1NM_007294.3(BRCA1): c.5470_5477delATTGGGCA (p.Ile1824Aspfs)deletionPathogenicrs80357973GRCh37Chr 17, 41197810: 41197817
923BRCA1NM_007294.3(BRCA1): c.5492delC (p.Pro1831Leufs)deletionPathogenicrs80357582GRCh37Chr 17, 41197795: 41197795
924BRCA1NM_007294.3(BRCA1): c.5496_5506delGGTGACCCGAGinsA (p.Val1833Serfs)indelPathogenicrs273902775GRCh37Chr 17, 41197781: 41197791
925BRCA1NM_007294.3(BRCA1): c.5497G> A (p.Val1833Met)single nucleotide variantLikely pathogenic, Pathogenicrs80357268GRCh37Chr 17, 41197790: 41197790
926BRCA1NM_007294.3(BRCA1): c.5503C> T (p.Arg1835Ter)single nucleotide variantPathogenicrs41293465GRCh37Chr 17, 41197784: 41197784
927BRCA1NM_007294.3(BRCA1): c.5503_5564del62 (p.Arg1835Thrfs)deletionPathogenicrs80359883GRCh37Chr 17, 41197723: 41197784
928BRCA1NM_007294.3(BRCA1): c.5506G> T (p.Glu1836Ter)single nucleotide variantPathogenicrs80356942GRCh37Chr 17, 41197781: 41197781
929BRCA1NM_007294.3(BRCA1): c.5510G> A (p.Trp1837Ter)single nucleotide variantPathogenicrs80357307GRCh37Chr 17, 41197777: 41197777
930BRCA1NM_007294.3(BRCA1): c.5511G> A (p.Trp1837Ter)single nucleotide variantPathogenicrs80356914GRCh37Chr 17, 41197776: 41197776
931BRCA1NM_007294.3(BRCA1): c.5521delA (p.Ser1841Valfs)deletionPathogenicrs80357721GRCh37Chr 17, 41197766: 41197766
932BRCA1NM_007294.3(BRCA1): c.5535C> A (p.Tyr1845Ter)single nucleotide variantPathogenicrs80356977GRCh37Chr 17, 41197752: 41197752
933BRCA1NM_007294.3(BRCA1): c.5536C> T (p.Gln1846Ter)single nucleotide variantPathogenicrs80356873GRCh37Chr 17, 41197751: 41197751
934BRCA1NM_007294.3(BRCA1): c.5541C> A (p.Cys1847Ter)single nucleotide variantPathogenicrs397509295GRCh37Chr 17, 41197746: 41197746
935BRCA1NM_007294.3(BRCA1): c.5558dupA (p.Tyr1853Terfs)duplicationPathogenicrs80357629GRCh37Chr 17, 41197728: 41197729
936BRCA1NM_007294.3(BRCA1): c.5559C> A (p.Tyr1853Ter)single nucleotide variantPathogenicrs80357336GRCh37Chr 17, 41197728: 41197728
937BRCA1NM_007294.3(BRCA1): c.64delT (p.Leu22Terfs)deletionPathogenicrs80357803GRCh37Chr 17, 41276050: 41276050
938BRCA1NM_007294.3(BRCA1): c.668delA (p.Lys223Argfs)deletionPathogenicrs80357745GRCh37Chr 17, 41247865: 41247865
939BRCA1NM_007294.3(BRCA1): c.671-2A> Csingle nucleotide variantPathogenicrs80358108GRCh37Chr 17, 41246879: 41246879
940BRCA1NM_007294.3(BRCA1): c.685delT (p.Ser229Leufs)deletionPathogenicrs80357824GRCh37Chr 17, 41246863: 41246863
941BRCA1NM_007294.3(BRCA1): c.70_80delTGTCCCATCTG (p.Cys24Serfs)deletionPathogenicrs80359877GRCh37Chr 17, 41276034: 41276044
942BRCA1NM_007294.3(BRCA1): c.731delA (p.Asn244Metfs)deletionPathogenicrs80357700GRCh37Chr 17, 41246817: 41246817
943BRCA1NM_007294.3(BRCA1): c.73_74delCC (p.Pro25Hisfs)deletionPathogenicrs80357633GRCh37Chr 17, 41276040: 41276041
944BRCA1NM_007294.3(BRCA1): c.763G> T (p.Glu255Ter)single nucleotide variantPathogenicrs80357009GRCh37Chr 17, 41246785: 41246785
945BRCA1NM_007294.3(BRCA1): c.775delG (p.Glu259Lysfs)deletionPathogenicrs80357628GRCh37Chr 17, 41246773: 41246773
946BRCA1NM_007294.3(BRCA1): c.791_794delGTTC (p.Ser264Metfs)deletionPathogenicrs80357707GRCh37Chr 17, 41246754: 41246757
947BRCA1NM_007294.3(BRCA1): c.794_795delCT (p.Ser265Cysfs)deletionPathogenicrs80357955GRCh37Chr 17, 41246753: 41246754
948BRCA1NM_007294.3(BRCA1): c.80+1G> Asingle nucleotide variantPathogenicrs80358010GRCh37Chr 17, 41276033: 41276033
949BRCA1NM_007294.3(BRCA1): c.800C> G (p.Ser267Ter)single nucleotide variantPathogenicrs80357392GRCh37Chr 17, 41246748: 41246748
950BRCA1NM_007294.3(BRCA1): c.809delA (p.His270Leufs)deletionPathogenicrs80357965GRCh37Chr 17, 41246739: 41246739
951BRCA1NM_007294.3(BRCA1): c.81-2delAdeletionPathogenicrs273902791GRCh37Chr 17, 41267798: 41267798
952BRCA1NM_007294.3(BRCA1): c.815_824dupAGCCATGTGG (p.Thr276Alafs)duplicationPathogenicrs387906563GRCh37Chr 17, 41246724: 41246733
953BRCA1NM_007294.3(BRCA1): c.822T> A (p.Cys274Ter)single nucleotide variantPathogenicrs80357331GRCh37Chr 17, 41246726: 41246726
954BRCA1NM_007294.3(BRCA1): c.835delC (p.His279Metfs)deletionPathogenicrs80357523GRCh37Chr 17, 41246713: 41246713
955BRCA1NM_007294.3(BRCA1): c.83_84delTG (p.Leu28Argfs)deletionPathogenicrs80357728GRCh37Chr 17, 41267793: 41267794
956BRCA1NM_007294.3(BRCA1): c.844_850dupTCATTAC (p.Gln284Leufs)duplicationPathogenicrs80357989GRCh37Chr 17, 41246698: 41246704
957BRCA1NM_007294.3(BRCA1): c.848T> A (p.Leu283Ter)single nucleotide variantPathogenicrs273902792GRCh37Chr 17, 41246700: 41246700
958BRCA1NM_007294.3(BRCA1): c.851_852delAG (p.Gln284Profs)deletionPathogenicrs80357719GRCh37Chr 17, 41246696: 41246697
959BRCA1NM_007294.3(BRCA1): c.895_896delGT (p.Val299Argfs)deletionPathogenicrs80357670GRCh37Chr 17, 41246652: 41246653
960BRCA1NM_007294.3(BRCA1): c.904delG (p.Ala302Leufs)deletionPathogenicrs273903793GRCh37Chr 17, 41246644: 41246644
961BRCA1NM_007294.3(BRCA1): c.911delT (p.Phe304Serfs)deletionPathogenicrs80357622GRCh37Chr 17, 41246637: 41246637
962BRCA1NM_007294.3(BRCA1): c.922_923delAG (p.Ser308Glnfs)deletionPathogenicrs80357644GRCh37Chr 17, 41246625: 41246626
963BRCA1NM_007294.3(BRCA1): c.922_924delAGCinsT (p.Ser308Terfs)indelPathogenicrs397509335GRCh37Chr 17, 41246624: 41246626
964BRCA1NM_007294.3(BRCA1): c.923delG (p.Ser308Thrfs)deletionPathogenicrs80357953GRCh37Chr 17, 41246625: 41246625
965BRCA1NM_007294.3(BRCA1): c.930delG (p.Gln310Hisfs)deletionPathogenicrs80357689GRCh37Chr 17, 41246618: 41246618
966BRCA1NM_007294.3(BRCA1): c.949C> T (p.Gln317Ter)single nucleotide variantPathogenicrs80357211GRCh37Chr 17, 41246599: 41246599
967BRCA1NM_007294.3(BRCA1): c.949_953delCAACA (p.Gln317Terfs)deletionPathogenicrs80357555GRCh37Chr 17, 41246595: 41246599
968BRCA1NM_007294.3(BRCA1): c.959_960delGA (p.Arg320Metfs)deletionPathogenicrs397509339GRCh37Chr 17, 41246588: 41246589
969BRCA1NM_007294.3(BRCA1): c.964delG (p.Ala322Leufs)deletionPathogenicrs273903794GRCh37Chr 17, 41246584: 41246584
970BRCA1NM_007294.3(BRCA1): c.980_981delCA (p.Thr327Metfs)deletionPathogenicrs80357610GRCh37Chr 17, 41246567: 41246568
971BRCA1NM_007294.3(BRCA1): c.981_982delAT (p.Cys328Terfs)deletionPathogenicrs80357772GRCh37Chr 17, 41246566: 41246567
972NBNNM_002485.4(NBN): c.657_661delACAAA (p.Lys219Asnfs)deletionPathogenic, risk factorGRCh37Chr 8, 90983442: 90983446
973BRCA1NM_007294.3(BRCA1): c.1086_1141del56 (p.Asn363Serfs)deletionPathogenicrs80359875GRCh37Chr 17, 41246407: 41246462
974BRCA1NM_007294.3(BRCA1): c.1093A> T (p.Arg365Ter)single nucleotide variantPathogenicrs398122627GRCh37Chr 17, 41246455: 41246455
975BRCA1NM_007294.3(BRCA1): c.1292delT (p.Leu431Tyrfs)deletionPathogenicrs398122629GRCh37Chr 17, 41246256: 41246256
976BRCA1NM_007294.3(BRCA1): c.1326_1327insGT (p.Lys443Valfs)insertionPathogenicrs80357543GRCh37Chr 17, 41246221: 41246222
977BRCA1NM_007294.3(BRCA1): c.1327A> T (p.Lys443Ter)single nucleotide variantPathogenicrs398122630GRCh37Chr 17, 41246221: 41246221
978BRCA1NM_007294.3(BRCA1): c.1336dupA (p.Arg446Lysfs)duplicationPathogenicrs398122631GRCh37Chr 17, 41246211: 41246212
979BRCA1NM_007294.3(BRCA1): c.134+2T> Csingle nucleotide variantPathogenicrs80358131GRCh37Chr 17, 41267741: 41267741
980BRCA1NM_007294.3(BRCA1): c.134+5G> Asingle nucleotide variantLikely pathogenicrs80358038GRCh37Chr 17, 41267738: 41267738
981BRCA1NM_007294.3(BRCA1): c.1361delG (p.Ser454Ilefs)deletionPathogenicrs398122632GRCh37Chr 17, 41246187: 41246187
982BRCA1NM_007294.3(BRCA1): c.1377_1378delAA (p.Lys459Asnfs)deletionPathogenicrs398122633GRCh37Chr 17, 41246170: 41246171
983BRCA1NM_007294.3(BRCA1): c.141C> A (p.Cys47Ter)single nucleotide variantPathogenicrs398122635GRCh37Chr 17, 41258544: 41258544
984BRCA1NM_007294.3(BRCA1): c.1512dupT (p.Lys505Terfs)duplicationPathogenicrs398122636GRCh37Chr 17, 41246035: 41246036
985BRCA1NM_007294.3(BRCA1): c.1628delG (p.Gly543Valfs)deletionPathogenicrs398122640GRCh37Chr 17, 41245920: 41245920
986BRCA1NM_007294.3(BRCA1): c.1744delA (p.Thr582Argfs)deletionPathogenicrs398122641GRCh37Chr 17, 41245804: 41245804
987BRCA1NM_007294.3(BRCA1): c.1759delA (p.Ile587Terfs)deletionPathogenicrs398122642GRCh37Chr 17, 41245789: 41245789
988BRCA1NM_007294.3(BRCA1): c.1875delA (p.Val626Terfs)deletionPathogenicrs398122646GRCh37Chr 17, 41245673: 41245673
989BRCA1NM_007294.3(BRCA1): c.18_19insG (p.Arg7Alafs)insertionPathogenicrs398122648GRCh37Chr 17, 41276095: 41276096
990BRCA1NM_007294.3(BRCA1): c.1921delA (p.Ile641Leufs)deletionPathogenicrs398122650GRCh37Chr 17, 41245627: 41245627
991BRCA1NM_007294.3(BRCA1): c.203_204delTA (p.Ile68Asnfs)deletionPathogenicrs398122651GRCh37Chr 17, 41258481: 41258482
992BRCA1NM_007294.3(BRCA1): c.2070_2071delAA (p.Arg691Thrfs)deletionPathogenicrs273898676GRCh37Chr 17, 41245477: 41245478
993BRCA1NM_007294.3(BRCA1): c.2131_2132delAA (p.Lys711Valfs)deletionPathogenicrs398122653GRCh37Chr 17, 41245416: 41245417
994BRCA1NM_007294.3(BRCA1): c.2199delG (p.Lys734Asnfs)deletionPathogenicrs80357944GRCh37Chr 17, 41245349: 41245349
995BRCA1NM_007294.3(BRCA1): c.2246_2247insGA (p.Asp749Glufs)insertionPathogenicrs398122654GRCh37Chr 17, 41245301: 41245302
996BRCA1NM_007294.3(BRCA1): c.2386dupA (p.Thr796Asnfs)duplicationPathogenicrs398122657GRCh37Chr 17, 41245161: 41245162
997BRCA1NM_007294.3(BRCA1): c.241_251delCAACTTGTTGA (p.Gln81Argfs)deletionPathogenicrs398122659GRCh37Chr 17, 41256935: 41256945
998BRCA1NM_007294.3: c.2504_2505ins17insertionPathogenicrs483353078GRCh37Chr 17, 41245043: 41245044
999BRCA1NM_007294.3(BRCA1): c.250G> T (p.Glu84Ter)single nucleotide variantPathogenicrs398122661GRCh37Chr 17, 41256936: 41256936
1000BRCA1NM_007294.3(BRCA1): c.2654delT (p.Phe885Serfs)deletionPathogenicrs398122663GRCh37Chr 17, 41244894: 41244894
1001BRCA1NM_007294.3(BRCA1): c.2686dupA (p.Ser896Lysfs)duplicationPathogenicrs398122664GRCh37Chr 17, 41244861: 41244862
1002BRCA1NM_007294.3(BRCA1): c.2748delT (p.Asn916Lysfs)deletionPathogenicrs398122667GRCh37Chr 17, 41244800: 41244800
1003BRCA1NM_007294.3(BRCA1): c.2774delT (p.Ile925Thrfs)deletionPathogenicrs398122669GRCh37Chr 17, 41244774: 41244774
1004BRCA1NM_007294.3(BRCA1): c.2902_2903insTC (p.Pro968Leufs)insertionPathogenicrs398122670GRCh37Chr 17, 41244645: 41244646
1005BRCA1NM_007294.3(BRCA1): c.2940delA (p.Pro981Hisfs)deletionPathogenicrs80357876GRCh37Chr 17, 41244608: 41244608
1006BRCA1NM_007294.3(BRCA1): c.3204delT (p.Gln1069Lysfs)deletionPathogenicrs398122673GRCh37Chr 17, 41244344: 41244344
1007BRCA1NM_007294.3(BRCA1): c.3599_3600delAG (p.Gln1200Argfs)deletionPathogenicrs398122674GRCh37Chr 17, 41243948: 41243949
1008BRCA1NM_007294.3(BRCA1): c.3672delC (p.Cys1225Alafs)deletionPathogenicrs398122677GRCh37Chr 17, 41243876: 41243876
1009BRCA1NM_007294.3(BRCA1): c.3761_3762insTT (p.Lys1254Asnfs)insertionPathogenicrs80357928GRCh37Chr 17, 41243786: 41243787
1010BRCA1NM_007294.3: c.3839_3843delCTCAGins4indelPathogenicrs273900717GRCh37Chr 17, 41243705: 41243709
1011BRCA1NM_007294.3(BRCA1): c.4054G> T (p.Glu1352Ter)single nucleotide variantPathogenicrs80357202GRCh37Chr 17, 41243494: 41243494
1012BRCA1NM_007294.3(BRCA1): c.4062_4065delTAAT (p.Asn1355Lysfs)deletionPathogenicrs398122679GRCh37Chr 17, 41243483: 41243486
1013BRCA1NM_007294.3(BRCA1): c.4094T> G (p.Leu1365Ter)single nucleotide variantPathogenicrs398122681GRCh37Chr 17, 41243454: 41243454
1014BRCA1NM_007294.3(BRCA1): c.4116_4117insTT (p.Glu1373Leufs)insertionPathogenicrs398122682GRCh37Chr 17, 41243029: 41243030
1015BRCA1NM_007294.3: c.4155_4156ins10insertionPathogenicrs483353079GRCh37Chr 17, 41242990: 41242991
1016BRCA1NM_007294.3(BRCA1): c.4354A> T (p.Lys1452Ter)single nucleotide variantPathogenicrs398122685GRCh37Chr 17, 41234424: 41234424
1017BRCA1NM_007294.3(BRCA1): c.4357+2T> Gsingle nucleotide variantPathogenicrs80358152GRCh37Chr 17, 41234419: 41234419
1018BRCA1NM_007294.3(BRCA1): c.4493delC (p.Pro1498Leufs)deletionPathogenicrs398122687GRCh37Chr 17, 41226530: 41226530
1019BRCA1NM_007294.3(BRCA1): c.5075-3C> Gsingle nucleotide variantLikely pathogenicrs398122690GRCh37Chr 17, 41215971: 41215971
1020BRCA1NM_007294.3(BRCA1): c.5186delT (p.Leu1729Argfs)deletionPathogenicrs398122692GRCh37Chr 17, 41215357: 41215357
1021BRCA1NM_007294.3(BRCA1): c.5193+1G> Tsingle nucleotide variantPathogenicrs80358004GRCh37Chr 17, 41215349: 41215349
1022BRCA1NM_007294.3(BRCA1): c.5277+1delGdeletionPathogenicrs273901754GRCh37Chr 17, 41209068: 41209068
1023BRCA1NM_007294.3(BRCA1): c.5468-2A> Gsingle nucleotide variantLikely pathogenicrs398122699GRCh38Chr 17, 43045804: 43045804
1024BRCA1NM_007294.3(BRCA1): c.670+1G> Tsingle nucleotide variantPathogenicrs398122706GRCh37Chr 17, 41247862: 41247862
1025BRCA1NM_007294.3(BRCA1): c.81-1G> Asingle nucleotide variantPathogenicrs80358018GRCh37Chr 17, 41267797: 41267797
1026BRCA1NM_007294.3(BRCA1): c.936delC (p.Leu313Terfs)deletionPathogenicrs398122709GRCh37Chr 17, 41246612: 41246612
1027BRCA1LRG_292p1: p.Ala521Terprotein onlyPathogenic
1028BRCA1LRG_292p1: p.Cys39Serprotein onlyPathogenic
1029BRCA1LRG_292p1: p.Gly1738Argprotein onlyPathogenic
1030BRCA1LRG_292p1: p.Leu1230Terprotein onlyPathogenic
1031BRCA1LRG_292p1: p.Leu598Terprotein onlyPathogenic
1032BRCA1LRG_292p1: p.Ser1383Terprotein onlyPathogenic
1033BRCA1LRG_292p1: p.Ser868Terprotein onlyPathogenic
1034BRCA1LRG_292p1: p.Trp1508Terprotein onlyPathogenic
1035BRCA1LRG_292p1: p.Trp1782Terprotein onlyPathogenic
1036BRCA1LRG_292p1: p.Trp1815Terprotein onlyPathogenic
1037BRCA1LRG_292p1: p.Trp1837Argprotein onlyLikely pathogenic
1038BRCA1LRG_292p1: p.Trp321Terprotein onlyPathogenic
1039BRCA1LRG_292p1: p.Tyr1563Terprotein onlyPathogenic
1040BRCA1LRG_292p1: p.Tyr1703Terprotein onlyPathogenic
1041BRCA1LRG_292p1: p.Tyr261Terprotein onlyPathogenic
1042BRCA1NM_007294.3: c.*102_*105delCTGTdeletionPathogenicrs431825382GRCh37Chr 17, 41197590: 41197593
1043BRCA1NM_007294.3(BRCA1): c.1148_1149delAT (p.Asn383Argfs)deletionPathogenicrs431825384GRCh37Chr 17, 41246399: 41246400
1044BRCA1NM_007294.3(BRCA1): c.1214C> G (p.Ser405Ter)single nucleotide variantPathogenicrs80357481GRCh37Chr 17, 41246334: 41246334
1045BRCA1NM_007294.3: c.1298_1299ins4insertionPathogenicrs483353083GRCh37Chr 17, 41246249: 41246250
1046BRCA1NM_007294.3(BRCA1): c.130dupT (p.Cys44Leufs)duplicationPathogenicrs431825385GRCh37Chr 17, 41267746: 41267747
1047BRCA1NM_007294.3(BRCA1): c.134+5G> Tsingle nucleotide variantLikely pathogenicrs80358038GRCh37Chr 17, 41267738: 41267738
1048BRCA1NM_007294.3(BRCA1): c.1434delT (p.Glu479Lysfs)deletionPathogenicrs431825386GRCh37Chr 17, 41246114: 41246114
1049BRCA1NM_007294.3(BRCA1): c.1579_1580delAA (p.Lys527Aspfs)deletionPathogenicrs431825387GRCh37Chr 17, 41245968: 41245969
1050BRCA1NM_007294.3(BRCA1): c.2001dupA (p.Leu668Thrfs)duplicationPathogenicrs80357521GRCh37Chr 17, 41245546: 41245547
1051BRCA1NM_007294.3(BRCA1): c.2101_2102delAA (p.Lys701Valfs)deletionPathogenicrs431825389GRCh37Chr 17, 41245446: 41245447
1052BRCA1NM_007294.3(BRCA1): c.2332_2333insTG (p.Gly778Valfs)insertionPathogenicrs431825390GRCh37Chr 17, 41245215: 41245216
1053BRCA1NM_007294.3(BRCA1): c.368delC (p.Ser123Leufs)deletionPathogenicrs431825397GRCh37Chr 17, 41256212: 41256212
1054BRCA1NM_007294.3(BRCA1): c.3759delT (p.Lys1254Argfs)deletionPathogenicrs431825398GRCh37Chr 17, 41243789: 41243789
1055BRCA1NM_007294.3(BRCA1): c.4038_4041delAAGA (p.Arg1347Glufs)deletionPathogenicrs431825404GRCh37Chr 17, 41243507: 41243510
1056BRCA1NM_007294.3(BRCA1): c.4072G> T (p.Glu1358Ter)single nucleotide variantPathogenicrs397509136GRCh37Chr 17, 41243476: 41243476
1057BRCA1NM_007294.3(BRCA1): c.4183_4184insTC (p.Gln1395Leufs)insertionPathogenicrs80357742GRCh37Chr 17, 41242962: 41242963
1058BRCA1NM_007294.3(BRCA1): c.4185+2T> Asingle nucleotide variantPathogenicrs431825406GRCh37Chr 17, 41242959: 41242959
1059BRCA1NM_007294.3(BRCA1): c.4348dupT (p.Ser1450Phefs)duplicationPathogenicrs80357548GRCh37Chr 17, 41234429: 41234430
1060BRCA1NM_007294.3: c.4450_4451ins4insertionPathogenicrs483353084GRCh37Chr 17, 41228538: 41228539
1061BRCA1NM_007294.3(BRCA1): c.4587_4590delTAAG (p.Ile1529Metfs)deletionPathogenicrs431825409GRCh37Chr 17, 41226433: 41226436
1062BRCA1NM_007294.3(BRCA1): c.4986+5G> Asingle nucleotide variantPathogenicrs397509211GRCh37Chr 17, 41222940: 41222940
1063BRCA1NM_007294.3(BRCA1): c.5026_5030delTTAAC (p.Leu1676Terfs)deletionPathogenicrs431825410GRCh37Chr 17, 41219669: 41219673
1064BRCA1NM_007294.3(BRCA1): c.5193+1G> Asingle nucleotide variantPathogenicrs80358004GRCh37Chr 17, 41215349: 41215349
1065BRCA1NM_007294.3(BRCA1): c.5268_5269insC (p.Asp1757Argfs)insertionPathogenicrs431825414GRCh37Chr 17, 41209077: 41209078
1066BRCA1NM_007294.3(BRCA1): c.5467+3A> Csingle nucleotide variantPathogenicrs431825417GRCh37Chr 17, 41199657: 41199657
1067BRCA1NM_007294.3(BRCA1): c.5479_5480insGA (p.Met1827Argfs)insertionPathogenicrs80357757GRCh37Chr 17, 41197807: 41197808
1068BRCA1NM_007294.3(BRCA1): c.69_70insAG (p.Cys24Serfs)insertionPathogenicrs80357914GRCh37Chr 17, 41276044: 41276045
1069BRCA1LRG_292p1: p.Leu1086Terprotein onlyPathogenic
1070BRCA1LRG_292p1: p.Leu63Terprotein onlyPathogenic
1071BRCA1LRG_292p1: p.Ser1007Terprotein onlyPathogenic
1072BRCA1LRG_292p1: p.Ser713Terprotein onlyPathogenic
1073BRCA1LRG_292p1: 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:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1BRCA1, NBN
2
Show member pathways
9.1BRCA1, NBN
3
Show member pathways
9.1BRCA1, NBN
4
Show member pathways
DNA damage response36
9.1NBN, BRCA1
59.1BRCA1, NBN
6
Show member pathways
Non-homologous end joining36
DNA damage NHEJ mechanisms of DSBs repair58
9.1BRCA1, NBN
79.1NBN, BRCA1
89.1BRCA1, NBN
9
Show member pathways
9.1BRCA1, NBN

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

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

idCompoundScoreTop Affiliating Genes
1methylmethanesulfonate439.3BRCA1, NBN
2hydroxyurea43 49 1211.2BRCA1, NBN
3mitomycin c439.2BRCA1, NBN
4camptothecin43 59 1211.1NBN, BRCA1
5phosphatidylinositol439.1BRCA1, NBN
6etoposide43 49 59 1212.0BRCA1, NBN
7doxorubicin43 49 1210.8BRCA1, 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
1nucleoplasmGO:00056549.1BRCA1, NBN

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

idNameGO IDScoreTop Affiliating Genes
1DNA repairGO:00062819.1BRCA1, NBN
2double-strand break repair via homologous recombinationGO:00007249.0BRCA1, NBN
3double-strand break repairGO:00063028.8BRCA1, NBN

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

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  • Antibodies
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Sources for Breast-Ovarian Cancer, Familial, 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet