MCID: BRS072
MIFTS: 17

Breast-Ovarian Cancer, Familial, 2 malady

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

Aliases & Classifications for Breast-Ovarian Cancer, Familial, 2

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Aliases & Descriptions for Breast-Ovarian Cancer, Familial, 2:

Name: Breast-Ovarian Cancer, Familial, 2 50 68 12
Ovarian Cancer Familial 2 68
 
Breast Cancer Familial 2 68
Brovca2 68

Characteristics:

HPO:

62
breast-ovarian cancer, familial, 2:
Inheritance: autosomal dominant inheritance, multifactorial inheritance


Classifications:



External Ids:

OMIM50 612555

Summaries for Breast-Ovarian Cancer, Familial, 2

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UniProtKB/Swiss-Prot:68 Breast-ovarian cancer, familial, 2: A condition associated with familial predisposition to cancer of the breast and ovaries. Characteristic features in affected families are an early age of onset of breast cancer (often before age 50), increased chance of bilateral cancers (cancer that develop in both breasts, or both ovaries, independently), frequent occurrence of breast cancer among men, increased incidence of tumors of other specific organs, such as the prostate.

MalaCards based summary: Breast-Ovarian Cancer, Familial, 2, also known as ovarian cancer familial 2, is related to brca2 hereditary breast and ovarian cancer syndrome, and has symptoms including breast carcinoma An important gene associated with Breast-Ovarian Cancer, Familial, 2 is BRCA2 (BRCA2, DNA Repair Associated). Affiliated tissues include breast, prostate and ovary.

Description from OMIM:50 612555

Related Diseases for Breast-Ovarian Cancer, Familial, 2

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Diseases in the Hereditary Breast Ovarian Cancer family:

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

Diseases related to Breast-Ovarian Cancer, Familial, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1brca2 hereditary breast and ovarian cancer syndrome11.0

Symptoms for Breast-Ovarian Cancer, Familial, 2

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Symptoms by clinical synopsis from OMIM:

612555

Clinical features from OMIM:

612555

HPO human phenotypes related to Breast-Ovarian Cancer, Familial, 2:

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

Drugs & Therapeutics for Breast-Ovarian Cancer, Familial, 2

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Risk Education and Assessment for Cancer HeredityCompletedNCT01346761

Search NIH Clinical Center for Breast-Ovarian Cancer, Familial, 2

Genetic Tests for Breast-Ovarian Cancer, Familial, 2

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Anatomical Context for Breast-Ovarian Cancer, Familial, 2

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MalaCards organs/tissues related to Breast-Ovarian Cancer, Familial, 2:

34
Breast, Prostate, Ovary

Animal Models for Breast-Ovarian Cancer, Familial, 2 or affiliated genes

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Publications for Breast-Ovarian Cancer, Familial, 2

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Variations for Breast-Ovarian Cancer, Familial, 2

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Clinvar genetic disease variations for Breast-Ovarian Cancer, Familial, 2:

5 (show all 1,146)
id Gene Variation Type Significance SNP ID Assembly Location
1BRCA2BRCA2: exon 2 deletionundetermined variantPathogenic
2BRCA2NM_000059.3(BRCA2): c.891_899delAACAGTTGTinsGATACTTCAG (p.Thr298Ilefs)indelPathogenicrs276174914GRCh38Chr 13, 32332369: 32332377
3BRCA2NM_000059.3(BRCA2): c.995_996insG (p.Ile332Metfs)insertionPathogenicrs276174931GRCh38Chr 13, 32332473: 32332474
4BRCA2NM_000059.3(BRCA2): c.1190_1191insTTAG (p.Gln397Hisfs)insertionPathogenicrs80359266GRCh37Chr 13, 32906805: 32906806
5BRCA2NM_000059.3(BRCA2): c.1231delA (p.Ile411Tyrfs)deletionPathogenicrs80359269GRCh38Chr 13, 32332709: 32332709
6BRCA2NM_000059.3(BRCA2): c.1362dupA (p.Ser455Ilefs)duplicationPathogenicrs80359282GRCh37Chr 13, 32906977: 32906977
7BRCA2NM_000059.3(BRCA2): c.1408dupG (p.Glu470Glyfs)duplicationPathogenicrs80359284GRCh37Chr 13, 32907023: 32907023
8BRCA2NM_000059.3(BRCA2): c.1542dupG (p.Thr515Aspfs)duplicationPathogenicrs80359288GRCh37Chr 13, 32907157: 32907157
9BRCA2NM_000059.3(BRCA2): c.1608dupT (p.Glu537Terfs)duplicationPathogenicrs276174811GRCh38Chr 13, 32333086: 32333086
10BRCA2NM_000059.3(BRCA2): c.1648dupG (p.Glu550Glyfs)duplicationPathogenicrs80359296GRCh38Chr 13, 32333126: 32333126
11BRCA2NM_000059.3(BRCA2): c.1668_1671delTTTAins3indelPathogenicrs483353110GRCh37Chr 13, 32907283: 32907286
12BRCA2U43746.1: n.2001_2004delTATTdeletionPathogenic
13BRCA2NM_000059.3(BRCA2): c.1854_1855insA (p.Gln619Thrfs)insertionPathogenicrs80359313GRCh38Chr 13, 32333332: 32333333
14BRCA2NM_000059.3(BRCA2): c.2212dupT (p.Cys738Leufs)duplicationPathogenicrs80359325GRCh37Chr 13, 32910704: 32910704
15BRCA2NM_000059.3(BRCA2): c.37_38insT (p.Glu13Valfs)insertionPathogenicrs80359400GRCh37Chr 13, 32890634: 32890635
16BRCA2NM_000059.3(BRCA2): c.2439dupT (p.Pro814Serfs)duplicationPathogenicrs276174822GRCh37Chr 13, 32910931: 32910931
17BRCA2NM_000059.3(BRCA2): c.2526dupA (p.Ala843Serfs)duplicationPathogenicrs80359332GRCh37Chr 13, 32911018: 32911018
18BRCA2NM_000059.3(BRCA2): c.2595delA (p.Glu866Lysfs)deletionPathogenicrs483353111GRCh38Chr 13, 32336950: 32336950
19BRCA2NM_000059.3(BRCA2): c.71_96del26 (p.Leu24Terfs)deletionLikely pathogenic, Pathogenicrs80359637GRCh37Chr 13, 32893217: 32893242
20BRCA2NM_000059.3(BRCA2): c.2833_2834insTT (p.Lys945Ilefs)insertionPathogenicrs80359355GRCh37Chr 13, 32911325: 32911326
21BRCA2NM_000059.3(BRCA2): c.2842dupG (p.Val948Glyfs)duplicationPathogenicrs80359359GRCh37Chr 13, 32911334: 32911334
22BRCA2NM_000059.3(BRCA2): c.2899_2900delCT (p.Leu967Argfs)deletionPathogenicrs80359361GRCh37Chr 13, 32911391: 32911392
23BRCA2NM_000059.3(BRCA2): c.2930_2940delTGAATATAGAT (p.Leu977Terfs)deletionPathogenicrs80359364GRCh37Chr 13, 32911422: 32911432
24BRCA2NM_000059.3(BRCA2): c.2978G> A (p.Trp993Ter)single nucleotide variantPathogenicrs80358543GRCh38Chr 13, 32337333: 32337333
25BRCA2NM_000059.3(BRCA2): c.3067_3071delAACAT (p.Asn1023Terfs)deletionPathogenicrs80359369GRCh38Chr 13, 32337422: 32337426
26BRCA2U43746.1: n.3347_3348delAGdeletionPathogenic
27BRCA2NM_000059.3(BRCA2): c.106dupT (p.Ser36Phefs)duplicationPathogenicrs80359262GRCh37Chr 13, 32893252: 32893252
28BRCA2NM_000059.3(BRCA2): c.3362C> A (p.Ser1121Ter)single nucleotide variantPathogenicrs80358579GRCh37Chr 13, 32911854: 32911854
29BRCA2NM_000059.3(BRCA2): c.132_133ins8insertionPathogenicrs483353112GRCh38Chr 13, 32319141: 32319142
30BRCA2NM_000059.3(BRCA2): c.3407_3408ins100 (p.?)insertionPathogenicGRCh37Chr 13, 32911899: 32911900
31BRCA2NM_000059.3(BRCA2): c.3454dupT (p.Leu1152Phefs)duplicationPathogenicrs80359385GRCh38Chr 13, 32337809: 32337809
32BRCA2NM_000059.3(BRCA2): c.3458delA (p.Lys1153Argfs)deletionPathogenicrs80359386GRCh37Chr 13, 32911950: 32911950
33BRCA2E49Xsingle nucleotide variantPathogenic
34BRCA2NM_000059.3: c.156_157insALUinsertionPathogenicGRCh37Chr 13, 32893302: 32893303
35BRCA2U43746.1: n.3875_3876delGTdeletionPathogenic
36BRCA2NM_000059.3(BRCA2): c.3730_3734delATTGAins4indelPathogenicrs483353113GRCh37Chr 13, 32912222: 32912226
37BRCA2NM_000059.3(BRCA2): c.4006_4007insA (p.Phe1336Tyrfs)insertionPathogenicrs80359419GRCh37Chr 13, 32912498: 32912499
38BRCA2NM_000059.3(BRCA2): c.4008_4009insCATC (p.Asp1337Hisfs)insertionPathogenicrs80359420GRCh38Chr 13, 32338363: 32338364
39BRCA2NM_000059.3(BRCA2): c.4014_4015insGG (p.Ser1339Glyfs)insertionPathogenicrs276174839GRCh37Chr 13, 32912506: 32912507
40BRCA2NM_000059.3(BRCA2): c.4048dupC (p.His1350Profs)duplicationPathogenicrs80359422GRCh37Chr 13, 32912540: 32912540
41BRCA2NM_000059.3(BRCA2): c.4131_4132insTGAGGA (p.Thr1378_Gly1712delinsTer)insertionPathogenicrs80359429GRCh37Chr 13, 32912623: 32912624
42BRCA2NM_000059.3(BRCA2): c.4563_4564delAT (p.Leu1522Glyfs)deletionPathogenicrs483353115GRCh37Chr 13, 32913055: 32913056
43BRCA2U43746.1: n.489_490delCTdeletionPathogenic
44BRCA2NM_000059.3(BRCA2): c.4718_4719ins4insertionPathogenicrs483353116GRCh38Chr 13, 32339073: 32339074
45BRCA2NM_000059.3(BRCA2): c.4809_4810insA (p.Leu1604Thrfs)insertionPathogenicrs80359467GRCh38Chr 13, 32339164: 32339165
46BRCA2NM_000059.3(BRCA2): c.4904dupT (p.Leu1635Phefs)duplicationPathogenicrs80359471GRCh37Chr 13, 32913396: 32913396
47BRCA2NM_000059.3(BRCA2): c.4965C> R (p.Tyr1655Ter)single nucleotide variantPathogenicrs80358721GRCh37Chr 13, 32913457: 32913457
48BRCA2NM_000059.3(BRCA2): c.4981_4982insG (p.Tyr1661Terfs)insertionPathogenicrs80359476GRCh37Chr 13, 32913473: 32913474
49BRCA2NM_000059.3(BRCA2): c.5068_5071delAAAA (p.Lys1690Asnfs)deletionPathogenicrs80359479GRCh38Chr 13, 32339423: 32339426
50BRCA2NM_000059.3(BRCA2): c.5074_5075insA (p.Trp1692Terfs)insertionPathogenicrs80359482GRCh37Chr 13, 32913566: 32913567
51BRCA2NM_000059.3(BRCA2): c.5222_5225delGTAA (p.Ser1741Thrfs)deletionPathogenicrs80359498GRCh37Chr 13, 32913714: 32913717
52BRCA2NM_000059.3(BRCA2): c.5239_5240insT (p.Asn1747Ilefs)insertionPathogenicrs80359500GRCh37Chr 13, 32913731: 32913732
53BRCA2NM_000059.3(BRCA2): c.5270_5286del17 (p.Tyr1757Serfs)deletionPathogenicrs80359502GRCh38Chr 13, 32339625: 32339641
54BRCA2NM_000059.3(BRCA2): c.5492dupT (p.Ser1832Ilefs)duplicationPathogenicrs80359517GRCh37Chr 13, 32913984: 32913984
55BRCA2NM_000059.3(BRCA2): c.5655_5656insCC (p.Gln1886Profs)insertionPathogenicrs276174861GRCh37Chr 13, 32914147: 32914148
56BRCA2NM_000059.3(BRCA2): c.5682C> A (p.Tyr1894Ter)single nucleotide variantPathogenicrs41293497GRCh37Chr 13, 32914174: 32914174
57BRCA2NM_000059.3(BRCA2): c.5863delT (p.Ser1955Glnfs)deletionPathogenicrs80359546GRCh37Chr 13, 32914355: 32914355
58BRCA2NM_000059.3(BRCA2): c.6098dupT (p.Arg2034Thrfs)duplicationPathogenicGRCh38Chr 13, 32340453: 32340453
59BRCA2NM_000059.3(BRCA2): c.6203_6204insA (p.Leu2069Phefs)insertionPathogenicrs80359566GRCh38Chr 13, 32340558: 32340559
60BRCA2U43746.1: n.6437delTdeletionPathogenic
61BRCA2NM_000059.3(BRCA2): c.6219dupA (p.His2074Thrfs)duplicationPathogenicrs80359568GRCh37Chr 13, 32914711: 32914711
62BRCA2NM_000059.3(BRCA2): c.6374_6375insA (p.Cys2126Leufs)insertionPathogenicrs80359579GRCh37Chr 13, 32914866: 32914867
63BRCA2NM_000059.3(BRCA2): c.6391_6392insT (p.Lys2131Ilefs)insertionPathogenicrs80359580GRCh37Chr 13, 32914883: 32914884
64BRCA2NM_000059.3(BRCA2): c.6535_6536ins8insertionPathogenicrs80359601GRCh38Chr 13, 32340890: 32340891
65BRCA2NM_000059.3(BRCA2): c.6535dupG (p.Val2179Glyfs)duplicationPathogenicrs80359601GRCh37Chr 13, 32915027: 32915027
66BRCA2NM_000059.3(BRCA2): c.6591delT (p.Glu2198Lysfs)deletionPathogenicrs80359606GRCh38Chr 13, 32340946: 32340946
67BRCA2NM_000059.3(BRCA2): c.6644_6648delACTCC (p.Tyr2215Terfs)deletionPathogenicrs606231404GRCh37Chr 13, 32915136: 32915140
68BRCA2NM_000059.3(BRCA2): c.6645C> G (p.Tyr2215Ter)single nucleotide variantPathogenicrs80358892GRCh37Chr 13, 32915137: 32915137
69BRCA2NM_000059.3(BRCA2): c.6658_6662delGAAAA (p.Glu2220Leufs)deletionPathogenicrs80359618GRCh37Chr 13, 32915150: 32915154
70BRCA2NM_000059.3(BRCA2): c.489_490insG (p.Leu164Valfs)insertionPathogenicrs120074205GRCh38Chr 13, 32326255: 32326256
71BRCA2NM_000059.3(BRCA2): c.7235_7236insG (p.Lys2413Terfs)insertionPathogenicrs483353118GRCh37Chr 13, 32929225: 32929226
72BRCA2NM_000059.3(BRCA2): c.7283delT (p.Leu2428Trpfs)deletionPathogenicrs483353119GRCh38Chr 13, 32355136: 32355136
73BRCA2NM_000059.3(BRCA2): c.7379_7380insG (p.Asn2460Lysfs)insertionPathogenicrs80359647GRCh37Chr 13, 32929369: 32929370
74BRCA2NM_000059.3(BRCA2): c.7469dupT (p.Gln2491Thrfs)duplicationPathogenicGRCh37Chr 13, 32930598: 32930598
75BRCA2NM_000059.3(BRCA2): c.7595_7596insTT (p.Ala2534Leufs)insertionPathogenicrs80359666GRCh37Chr 13, 32930724: 32930725
76BRCA2NM_000059.3(BRCA2): c.7596_7609delCTCTGCGTGTTCTC (p.Ser2533Terfs)deletionPathogenicrs80359667GRCh37Chr 13, 32930725: 32930738
77BRCA2U43746.1: n.7829+1G> Asingle nucleotide variantPathogenic
78BRCA2U43746.1: n.7829+1G> Tsingle nucleotide variantPathogenic
79BRCA2U43746.1: n.7829+2T> Gsingle nucleotide variantPathogenic
80BRCA2U43746.1: n.7830-1G> Asingle nucleotide variantPathogenic
81BRCA2NM_000059.3(BRCA2): c.7627dupT (p.Tyr2543Leufs)duplicationPathogenicrs80359668GRCh38Chr 13, 32357751: 32357751
82BRCA2NM_000059.3(BRCA2): c.7662_7663ins37 (p.?)insertionPathogenicrs483353121GRCh37Chr 13, 32931923: 32931924
83BRCA2NM_000059.3(BRCA2): c.7719dupA (p.Trp2574Metfs)duplicationPathogenicrs80359676GRCh37Chr 13, 32931980: 32931980
84BRCA2NM_000059.3(BRCA2): c.7791dupA (p.Glu2598Argfs)duplicationPathogenicrs80359681GRCh37Chr 13, 32932052: 32932052
85BRCA2NM_000059.3(BRCA2): c.7816_7819dupGACA (p.Thr2607Argfs)duplicationPathogenicrs80359684GRCh38Chr 13, 32362533: 32362536
86BRCA2NM_000059.3(BRCA2): c.7921_7926delGAATTTinsAG (p.Glu2641Argfs)indelPathogenicrs276174897GRCh37Chr 13, 32936775: 32936780
87BRCA2NM_000059.3(BRCA2): c.7977-1G> Tsingle nucleotide variantPathogenicrs81002874GRCh37Chr 13, 32937315: 32937315
88BRCA2NM_000059.3(BRCA2): c.8010_8032del23 (p.Ala2671Glyfs)deletionPathogenicrs80359690GRCh38Chr 13, 32363212: 32363234
89BRCA2U43746.1: n.8397dupTGGGduplicationPathogenic
90BRCA2NM_000059.3(BRCA2): c.8208_8209insAG (p.Leu2737Serfs)insertionPathogenicrs483353122GRCh38Chr 13, 32363410: 32363411
91BRCA2NM_000059.3(BRCA2): c.8219dupT (p.Leu2740Phefs)duplicationPathogenicrs80359697GRCh37Chr 13, 32937558: 32937558
92BRCA2NM_000059.3(BRCA2): c.8278_8279ins71 (p.?)insertionPathogenicGRCh37Chr 13, 32937617: 32937618
93BRCA2NM_000059.3(BRCA2): c.8323dupA (p.Met2775Asnfs)duplicationPathogenicrs276174904GRCh38Chr 13, 32363525: 32363525
94BRCA2U43746.1: n.8560_8860del301deletionPathogenic
95BRCA2NM_000059.3(BRCA2): c.8483_8484ins11 (p.?)insertionPathogenicrs483353123GRCh37Chr 13, 32944690: 32944691
96BRCA2NM_000059.3(BRCA2): c.8578_8579delAA (p.Lys2860Glufs)deletionPathogenicrs80359719GRCh37Chr 13, 32945183: 32945184
97BRCA2U43746.1: n.886_887delGCdeletionPathogenic
98BRCA2NM_000059.3(BRCA2): c.8745_8748dupTTAC (p.Glu2918Profs)duplicationPathogenicrs80359727GRCh37Chr 13, 32950919: 32950922
99BRCA2NM_000059.3(BRCA2): c.8800_8801ins346 (p.?)insertionPathogenicGRCh38Chr 13, 32379362: 32379363
100BRCA2U43746.1: n.9176_9186del11deletionPathogenic
101BRCA2NM_000059.3(BRCA2): c.8954-1del3insAAindelPathogenicGRCh37Chr 13, 32953886: 32953886
102BRCA2NM_000059.3(BRCA2): c.8969G> A (p.Trp2990Ter)single nucleotide variantPathogenicrs80359148GRCh37Chr 13, 32953902: 32953902
103BRCA2U43746.1: n.9279+1G> Asingle nucleotide variantPathogenic
104BRCA2NM_000059.3(BRCA2): c.9066_9067insAA (p.Ala3023Lysfs)insertionPathogenicrs80359745GRCh37Chr 13, 32953999: 32954000
105BRCA2NM_000059.3(BRCA2): c.9098dupC (p.Gln3034Serfs)duplicationPathogenicrs80359747GRCh38Chr 13, 32379894: 32379894
106BRCA2U43746.1: n.9476_9491del16deletionPathogenic
107BRCA2NM_000059.3(BRCA2): c.9330_9334delTGAGGins3indelPathogenicrs483353126GRCh37Chr 13, 32968899: 32968903
108BRCA2NM_000059.3(BRCA2): c.9384_9385insG (p.Pro3129Alafs)insertionPathogenicrs80359758GRCh38Chr 13, 32394816: 32394817
109BRCA2NM_000059.3(BRCA2): c.9455_9456dupAG (p.Gly3153Argfs)duplicationPathogenicrs80359765GRCh37Chr 13, 32969024: 32969025
110BRCA2NM_000059.3(BRCA2): c.9672dupA (p.Tyr3225Ilefs)duplicationPathogenicrs80359773GRCh38Chr 13, 32398185: 32398185
111BRCA2NM_000059.3(BRCA2): c.6331_6332delAA (p.Lys2111Glufs)deletionPathogenicrs587781470GRCh37Chr 13, 32914823: 32914824
112BRCA2NM_000059.3(BRCA2): c.1909+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs587781629GRCh37Chr 13, 32907525: 32907525
113BRCA2NM_000059.3(BRCA2): c.8948_8953+5delATTCAGGTAAGdeletionLikely pathogenic, Pathogenicrs276174915GRCh37Chr 13, 32953647: 32953657
114BRCA2NM_000059.3(BRCA2): c.6816_6820delAAGAG (p.Gly2274Alafs)deletionPathogenicrs587781803GRCh37Chr 13, 32915308: 32915312
115BRCA2NM_000059.3(BRCA2): c.5171_5172dupTA (p.Ala1725Terfs)duplicationPathogenicrs587782075GRCh37Chr 13, 32913663: 32913664
116BRCA2NM_000059.3(BRCA2): c.5159C> A (p.Ser1720Ter)single nucleotide variantPathogenicrs80358740GRCh38Chr 13, 32339514: 32339514
117BRCA2NM_000059.3(BRCA2): c.5386_5387delGA (p.Asp1796Cysfs)deletionPathogenicrs587782598GRCh38Chr 13, 32339741: 32339742
118BRCA2NM_000059.3(BRCA2): c.5715dupT (p.Asn1906Terfs)duplicationPathogenicrs587782901GRCh37Chr 13, 32914207: 32914207
119BRCA2NM_000059.3(BRCA2): c.5386delG (p.Asp1796Metfs)deletionPathogenicrs587776467GRCh38Chr 13, 32339741: 32339741
120BRCA2NM_000059.3(BRCA2): c.6044T> A (p.Leu2015Ter)single nucleotide variantPathogenicrs587776468GRCh38Chr 13, 32340399: 32340399
121BRCA2NP_000050.2: p.Ser2022Terprotein onlyPathogenic
122BRCA2NP_000050.2: p.Trp2990Terprotein onlyPathogenic
123BRCA2NM_000059.3(BRCA2): c.3172A> T (p.Lys1058Ter)single nucleotide variantPathogenicrs730881521GRCh38Chr 13, 32337527: 32337527
124BRCA2NM_000059.3(BRCA2): c.9648+1G> Csingle nucleotide variantPathogenicrs730881573GRCh38Chr 13, 32397045: 32397045
125BRCA2NM_000059.3(BRCA2): c.2380dupA (p.Met794Asnfs)duplicationPathogenicrs730881602GRCh38Chr 13, 32336735: 32336735
126BRCA2NM_000059.3(BRCA2): c.712G> T (p.Glu238Ter)single nucleotide variantPathogenicrs56383036GRCh37Chr 13, 32905086: 32905086
127BRCA2NM_000059.3(BRCA2): c.5390delC (p.Ala1797Glufs)deletionPathogenicrs730882168GRCh37Chr 13, 32913882: 32913882
128BRCA2NM_000059.3(BRCA2): c.7266T> A (p.Cys2422Ter)single nucleotide variantPathogenicrs730882169GRCh38Chr 13, 32355119: 32355119
129BRCA2NM_000059.3(BRCA2): c.5934dupT (p.Ser1979Terfs)duplicationPathogenicrs80359548GRCh37Chr 13, 32914426: 32914426
130BRCA2NM_000059.3(BRCA2): c.7301delA (p.Lys2434Serfs)deletionPathogenicrs786202441GRCh37Chr 13, 32929291: 32929291
131BRCA2NM_000059.3(BRCA2): c.6475C> T (p.Gln2159Ter)single nucleotide variantPathogenicrs398122558GRCh37Chr 13, 32914967: 32914967
132BRCA2NM_000059.3(BRCA2): c.6458delC (p.Pro2153Hisfs)deletionPathogenicrs786203660GRCh37Chr 13, 32914950: 32914950
133BRCA2NM_000059.3(BRCA2): c.774_775delAA (p.Glu260Serfs)deletionLikely pathogenic, Pathogenicrs786204273GRCh38Chr 13, 32331011: 32331012
134BRCA2NM_000059.3(BRCA2): c.6174delT (p.Phe2058Leufs)deletionPathogenicrs786204278GRCh38Chr 13, 32340529: 32340529
135BRCA2NM_000059.3(BRCA2): c.6777_6778delTG (p.Asn2259Lysfs)deletionPathogenicrs786204279GRCh38Chr 13, 32341132: 32341133
136BRCA2NM_000059.3(BRCA2): c.7008-1G> Asingle nucleotide variantLikely pathogenicrs786204280GRCh38Chr 13, 32354860: 32354860
137BRCA2NM_000059.3(BRCA2): c.7340dupA (p.Asn2447Lysfs)duplicationPathogenicrs786204281GRCh38Chr 13, 32355193: 32355193
138BRCA2NM_000059.3(BRCA2): c.9281C> G (p.Ser3094Ter)single nucleotide variantPathogenicrs786204283GRCh38Chr 13, 32394713: 32394713
139BRCA2NM_000059.3(BRCA2): c.2743_2747delACTTG (p.Thr915Cysfs)deletionLikely pathogenicrs786204752GRCh37Chr 13, 32911235: 32911239
140BRCA2NM_000059.3(BRCA2): c.5723_5727delTAGAT (p.Leu1908Glnfs)deletionPathogenicrs794727014GRCh37Chr 13, 32914215: 32914219
141BRCA2NM_000059.3(BRCA2): c.8143A> T (p.Lys2715Ter)single nucleotide variantPathogenicrs863224469GRCh37Chr 13, 32937482: 32937482
142BRCA2NM_000059.3(BRCA2): c.4587dupG (p.Lys1530Glufs)duplicationPathogenicrs745456776GRCh38Chr 13, 32338942: 32338942
143BRCA2NM_000059.3(BRCA2): c.3201delT (p.Val1068Tyrfs)deletionPathogenicrs864622672GRCh37Chr 13, 32911693: 32911693
144BRCA2NM_000059.3(BRCA2): c.8902_8913delACCGTGTGGAAGinsTCCC (p.Thr2968Serfs)indelPathogenicrs864622735GRCh37Chr 13, 32953601: 32953612
145BRCA2NM_000059.3(BRCA2): c.67+1G> Csingle nucleotide variantLikely pathogenic, Pathogenicrs81002796GRCh38Chr 13, 32316528: 32316528
146BRCA2NM_000059.3: c.156_157insALUinsertionPathogenic
147BRCA2NM_000059.3(BRCA2): c.1329delG (p.Asn444Ilefs)deletionPathogenicrs869320781GRCh37Chr 13, 32906944: 32906944
148BRCA2NM_000059.3(BRCA2): c.3323delA (p.Lys1108Argfs)deletionPathogenicrs869320782GRCh37Chr 13, 32911815: 32911815
149BRCA2NM_000059.3(BRCA2): c.4615_4616delTT (p.Leu1539Glyfs)deletionPathogenicrs869320783GRCh37Chr 13, 32913107: 32913108
150BRCA2NM_000059.3: c.9452_9466dupinsAluinsertionPathogenic
151BRCA2NM_000059.3(BRCA2): c.67G> A (p.Asp23Asn)single nucleotide variantLikely pathogenicrs397507881GRCh38Chr 13, 32316527: 32316527
152BRCA2NM_000059.3(BRCA2): c.4619_4623delACAAA (p.Asp1540Glyfs)deletionPathogenicrs869320793GRCh37Chr 13, 32913111: 32913115
153BRCA2NM_000059.3(BRCA2): c.5166dupT (p.Thr1723Tyrfs)duplicationPathogenicrs869320794GRCh37Chr 13, 32913658: 32913658
154BRCA2NM_000059.3(BRCA2): c.7575delA (p.Ala2526Glnfs)deletionPathogenicrs869320797GRCh37Chr 13, 32930704: 32930704
155BRCA2NM_000059.3(BRCA2): c.8566_8567delGAinsC (p.Glu2856Argfs)indelPathogenicrs869320798GRCh38Chr 13, 32371034: 32371035
156BRCA2NM_000059.3(BRCA2): c.8930delA (p.Tyr2977Phefs)deletionLikely pathogenic, Pathogenicrs869320799GRCh37Chr 13, 32953629: 32953629
157BRCA2NM_000059.3(BRCA2): c.9053_9057delGTAAA (p.Ser3018Ilefs)deletionPathogenicrs869320800GRCh38Chr 13, 32379849: 32379853
158BRCA2NM_000059.3(BRCA2): c.9117+1delGdeletionLikely pathogenicrs869320801GRCh37Chr 13, 32954051: 32954051
159BRCA2NM_000059.3(BRCA2): c.1943delC (p.Ser648Tyrfs)deletionPathogenicrs876658660GRCh37Chr 13, 32910435: 32910435
160BRCA2NM_000059.3(BRCA2): c.2623_2624delGT (p.Val875Glnfs)deletionPathogenicrs876658928GRCh37Chr 13, 32911115: 32911116
161BRCA2NM_000059.3(BRCA2): c.7762_7764delATAinsTT (p.Ile2588Phefs)indelPathogenicrs483353072GRCh37Chr 13, 32932023: 32932025
162BRCA2NM_000059.3(BRCA2): c.682-2A> Gsingle nucleotide variantPathogenicrs878853287GRCh37Chr 13, 32905054: 32905054
163BRCA2NM_000059.3(BRCA2): c.160_161delAA (p.Asn54Glnfs)deletionPathogenicrs878853297GRCh37Chr 13, 32893306: 32893307
164BRCA2NM_000059.3(BRCA2): c.1906delT (p.Ser636Glnfs)deletionPathogenicrs878853298GRCh37Chr 13, 32907521: 32907521
165BRCA2NM_000059.3(BRCA2): c.4391_4393delCTGinsTT (p.Ser1464Phefs)indelPathogenicrs878853299GRCh38Chr 13, 32338746: 32338748
166BRCA2NM_000059.3(BRCA2): c.5237_5238dupCT (p.Asn1747Leufs)duplicationPathogenicrs80359499GRCh37Chr 13, 32913729: 32913730
167BRCA2NM_000059.3(BRCA2): c.6588_6589delAA (p.Lys2196Asnfs)deletionPathogenicrs878853300GRCh38Chr 13, 32340943: 32340944
168BRCA2NM_000059.3(BRCA2): c.6696delA (p.Ala2233Leufs)deletionPathogenicrs878853301GRCh38Chr 13, 32341051: 32341051
169BRCA2NM_000059.3(BRCA2): c.6825delG (p.Glu2275Aspfs)deletionPathogenicrs878853302GRCh38Chr 13, 32341180: 32341180
170BRCA2NM_000059.3(BRCA2): c.7667dupA (p.Asn2556Lysfs)duplicationPathogenicrs878853303GRCh38Chr 13, 32357791: 32357791
171BRCA2NM_000059.3(BRCA2): c.7940_7941insC (p.Ser2648Lysfs)insertionPathogenicrs878853304GRCh38Chr 13, 32362657: 32362658
172BRCA2NM_000059.3(BRCA2): c.889G> T (p.Glu297Ter)single nucleotide variantLikely pathogenicrs879255298GRCh37Chr 13, 32906504: 32906504
173BRCA2NM_000059.3(BRCA2): c.81_83delAAGinsTAAGACT (p.Ser28Lysfs)indelLikely pathogenicrs879255300GRCh37Chr 13, 32893227: 32893229
174BRCA2NM_000059.3(BRCA2): c.6980delT (p.Leu2327Terfs)deletionLikely pathogenicrs879255306GRCh37Chr 13, 32921006: 32921006
175BRCA2NM_000059.3(BRCA2): c.3883C> T (p.Gln1295Ter)single nucleotide variantLikely pathogenicrs879255309GRCh38Chr 13, 32338238: 32338238
176BRCA2NM_000059.3(BRCA2): c.6815_6816delGA (p.Arg2272Lysfs)deletionPathogenicrs879255310GRCh38Chr 13, 32341170: 32341171
177BRCA2NM_000059.3(BRCA2): c.3422delC (p.Thr1141Asnfs)deletionPathogenicrs879255311GRCh38Chr 13, 32337777: 32337777
178BRCA2NM_000059.3(BRCA2): c.1667delA (p.Asn556Ilefs)deletionPathogenicrs879255437GRCh37Chr 13, 32907282: 32907282
179BRCA2NM_000059.3(BRCA2): c.2034_2038delTAATA (p.Asn679Serfs)deletionPathogenicrs879255440GRCh37Chr 13, 32910526: 32910530
180BRCA2NM_000059.3(BRCA2): c.2125_2126delCT (p.Leu709Valfs)deletionPathogenicrs879255441GRCh37Chr 13, 32910617: 32910618
181BRCA2NM_000059.3(BRCA2): c.2244_2245delCA (p.Tyr748Terfs)deletionPathogenicrs879255442GRCh38Chr 13, 32336599: 32336600
182BRCA2NM_000059.3(BRCA2): c.2606C> G (p.Ser869Ter)single nucleotide variantPathogenicrs80358523GRCh37Chr 13, 32911098: 32911098
183BRCA2NM_000059.3(BRCA2): c.4228dupA (p.Thr1410Asnfs)duplicationPathogenicrs879255450GRCh37Chr 13, 32912720: 32912720
184BRCA2NM_000059.3(BRCA2): c.4590A> T (p.Lys1530Asn)single nucleotide variantPathogenicrs879255452GRCh37Chr 13, 32913082: 32913082
185BRCA2NM_000059.3(BRCA2): c.4722dupA (p.Asp1575Argfs)duplicationPathogenicrs879255453GRCh37Chr 13, 32913214: 32913214
186BRCA2NM_000059.3(BRCA2): c.4731delA (p.Glu1577Aspfs)deletionPathogenicrs879255454GRCh37Chr 13, 32913223: 32913223
187BRCA2NM_000059.3(BRCA2): c.5241delC (p.Asn1747Lysfs)deletionPathogenicrs879255457GRCh38Chr 13, 32339596: 32339596
188BRCA2NM_000059.3(BRCA2): c.5293A> T (p.Lys1765Ter)single nucleotide variantPathogenicrs879255458GRCh38Chr 13, 32339648: 32339648
189BRCA2NM_000059.3(BRCA2): c.5590_5593delGACA (p.Asp1864Tyrfs)deletionPathogenicrs879255460GRCh38Chr 13, 32339945: 32339948
190BRCA2NM_000059.3(BRCA2): c.7654dupA (p.Ile2552Asnfs)duplicationPathogenicrs879255463GRCh37Chr 13, 32931915: 32931915
191BRCA2NM_000059.3(BRCA2): c.8312delC (p.Pro2771Glnfs)deletionPathogenicrs879255469GRCh37Chr 13, 32937651: 32937651
192BRCA2NM_000059.3(BRCA2): c.9285C> A (p.Asp3095Glu)single nucleotide variantPathogenicrs80359198GRCh38Chr 13, 32394717: 32394717
193BRCA2NM_000059.3(BRCA2): c.1029delA (p.Lys343Asnfs)deletionPathogenicrs80359260GRCh37Chr 13, 32906644: 32906644
194BRCA2NM_000059.3(BRCA2): c.1054dupT (p.Tyr352Leufs)duplicationPathogenicrs80359261GRCh37Chr 13, 32906669: 32906669
195BRCA2NM_000059.3(BRCA2): c.1156delG (p.Glu386Lysfs)deletionPathogenicrs397507262GRCh37Chr 13, 32906771: 32906771
196BRCA2NM_000059.3(BRCA2): c.1189_1190ins4insertionPathogenicrs397515635GRCh37Chr 13, 32906804: 32906805
197BRCA2NM_000059.3(BRCA2): c.1205delG (p.Gly402Valfs)deletionPathogenicrs397507265GRCh37Chr 13, 32906820: 32906820
198BRCA2NM_000059.3(BRCA2): c.1238delT (p.Leu413Hisfs)deletionPathogenicrs80359271GRCh37Chr 13, 32906853: 32906853
199BRCA2NM_000059.3(BRCA2): c.1253C> A (p.Ser418Ter)single nucleotide variantPathogenicrs397507266GRCh37Chr 13, 32906868: 32906868
200BRCA2NM_000059.3(BRCA2): c.1257delT (p.Cys419Trpfs)deletionPathogenicrs80359272GRCh37Chr 13, 32906872: 32906872
201BRCA2NM_000059.3(BRCA2): c.1265delA (p.Asn422Ilefs)deletionPathogenicrs80359273GRCh37Chr 13, 32906880: 32906880
202BRCA2NM_000059.3(BRCA2): c.1296_1297delGA (p.Asn433Glnfs)deletionPathogenicrs80359276GRCh37Chr 13, 32906911: 32906912
203BRCA2NM_000059.3(BRCA2): c.1309_1312delAAAG (p.Lys437Ilefs)deletionPathogenicrs80359277GRCh37Chr 13, 32906925: 32906928
204BRCA2NM_000059.3(BRCA2): c.1593dupA (p.Glu532Argfs)duplicationPathogenicrs397507272GRCh37Chr 13, 32907208: 32907208
205BRCA2NM_000059.3(BRCA2): c.1705C> A (p.Gln569Lys)single nucleotide variantPathogenicrs397507274GRCh37Chr 13, 32907320: 32907320
206BRCA2NM_000059.3(BRCA2): c.1755_1759delGAAAA (p.Lys585Asnfs)deletionPathogenicrs80359302GRCh37Chr 13, 32907370: 32907374
207BRCA2NM_000059.3(BRCA2): c.1796_1800delCTTAT (p.Ser599Terfs)deletionPathogenicrs276174813GRCh37Chr 13, 32907411: 32907415
208BRCA2NM_000059.3(BRCA2): c.1799A> G (p.Tyr600Cys)single nucleotide variantPathogenicrs397507276GRCh37Chr 13, 32907414: 32907414
209BRCA2NM_000059.3(BRCA2): c.1800T> A (p.Tyr600Ter)single nucleotide variantPathogenicrs80358464GRCh37Chr 13, 32907415: 32907415
210BRCA2NM_000059.3(BRCA2): c.1813dupA (p.Ile605Asnfs)duplicationPathogenicrs80359306GRCh37Chr 13, 32907428: 32907428
211BRCA2NM_000059.3(BRCA2): c.1813delA (p.Ile605Tyrfs)deletionPathogenicrs80359307GRCh37Chr 13, 32907428: 32907428
212BRCA2NM_000059.3(BRCA2): c.1832C> A (p.Ser611Ter)single nucleotide variantPathogenicrs80358474GRCh37Chr 13, 32907447: 32907447
213BRCA2NM_000059.3(BRCA2): c.1850C> A (p.Ser617Ter)single nucleotide variantPathogenicrs397507278GRCh37Chr 13, 32907465: 32907465
214BRCA2NM_000059.3(BRCA2): c.1850C> G (p.Ser617Ter)single nucleotide variantPathogenicrs397507278GRCh37Chr 13, 32907465: 32907465
215BRCA2NM_000059.3(BRCA2): c.1929delG (p.Arg645Glufs)deletionPathogenicrs80359316GRCh37Chr 13, 32910421: 32910421
216BRCA2NM_000059.3(BRCA2): c.1970T> A (p.Leu657Ter)single nucleotide variantPathogenicrs397507279GRCh37Chr 13, 32910462: 32910462
217BRCA2NM_000059.3(BRCA2): c.2036delA (p.Asn679Ilefs)deletionPathogenicrs80359318GRCh37Chr 13, 32910528: 32910528
218BRCA2NM_000059.3(BRCA2): c.2092delC (p.Leu698Tyrfs)deletionPathogenicrs80359322GRCh37Chr 13, 32910584: 32910584
219BRCA2NM_000059.3(BRCA2): c.2175dupA (p.Val726Serfs)duplicationPathogenicrs276174819GRCh37Chr 13, 32910667: 32910667
220BRCA2NM_000059.3(BRCA2): c.2231C> G (p.Ser744Ter)single nucleotide variantPathogenicrs397507282GRCh37Chr 13, 32910723: 32910723
221BRCA2NM_000059.3(BRCA2): c.2324delC (p.Lys776Argfs)deletionPathogenicrs397507284GRCh37Chr 13, 32910816: 32910816
222BRCA2NM_000059.3(BRCA2): c.2409T> G (p.Tyr803Ter)single nucleotide variantPathogenicrs80358504GRCh37Chr 13, 32910901: 32910901
223BRCA2NM_000059.3(BRCA2): c.2426T> G (p.Leu809Ter)single nucleotide variantPathogenicrs397507285GRCh37Chr 13, 32910918: 32910918
224BRCA2NM_000059.3(BRCA2): c.2480dupA (p.Asn827Lysfs)duplicationPathogenicrs397507286GRCh37Chr 13, 32910972: 32910972
225BRCA2NM_000059.3(BRCA2): c.2588dupA (p.Asn863Lysfs)duplicationPathogenicrs80359335GRCh37Chr 13, 32911080: 32911080
226BRCA2NM_000059.3(BRCA2): c.2618_2619delTA (p.Ile873Asnfs)deletionPathogenicrs397507290GRCh37Chr 13, 32911110: 32911111
227BRCA2NM_000059.3(BRCA2): c.2658_2659delTG (p.Asn886Lysfs)deletionPathogenicrs397507291GRCh37Chr 13, 32911150: 32911151
228BRCA2NM_000059.3(BRCA2): c.274C> T (p.Gln92Ter)single nucleotide variantPathogenicrs80358529GRCh37Chr 13, 32893420: 32893420
229BRCA2NM_000059.3(BRCA2): c.2818C> T (p.Gln940Ter)single nucleotide variantPathogenicrs80358532GRCh37Chr 13, 32911310: 32911310
230BRCA2NM_000059.3(BRCA2): c.2957_2958insG (p.Asn986Lysfs)insertionPathogenicrs80359365GRCh37Chr 13, 32911449: 32911450
231BRCA2NM_000059.3(BRCA2): c.2979G> A (p.Trp993Ter)single nucleotide variantPathogenicrs80358544GRCh37Chr 13, 32911471: 32911471
232BRCA2NM_000059.3(BRCA2): c.3009_3010delCA (p.His1003Glnfs)deletionPathogenicrs397507300GRCh37Chr 13, 32911501: 32911502
233BRCA2NM_000059.3(BRCA2): c.3073A> T (p.Lys1025Ter)single nucleotide variantPathogenicrs80358550GRCh37Chr 13, 32911565: 32911565
234BRCA2NM_000059.3(BRCA2): c.3109C> T (p.Gln1037Ter)single nucleotide variantPathogenicrs80358557GRCh37Chr 13, 32911601: 32911601
235BRCA2NM_000059.3(BRCA2): c.3158T> G (p.Leu1053Ter)single nucleotide variantPathogenicrs41293477GRCh37Chr 13, 32911650: 32911650
236BRCA2NM_000059.3(BRCA2): c.316+1G> Asingle nucleotide variantPathogenicrs397507303GRCh37Chr 13, 32893463: 32893463
237BRCA2NM_000059.3(BRCA2): c.316+1G> Csingle nucleotide variantPathogenicrs397507303GRCh37Chr 13, 32893463: 32893463
238BRCA2NM_000059.3(BRCA2): c.3160_3163delGATA (p.Asp1054Ilefs)deletionPathogenicrs80359371GRCh37Chr 13, 32911652: 32911655
239BRCA2NM_000059.3(BRCA2): c.3170_3174delAGAAA (p.Lys1057Thrfs)deletionPathogenicrs80359373GRCh37Chr 13, 32911662: 32911666
240BRCA2NM_000059.3(BRCA2): c.3182delA (p.Lys1061Serfs)deletionPathogenicrs397507304GRCh37Chr 13, 32911674: 32911674
241BRCA2NM_000059.3(BRCA2): c.3264dupT (p.Gln1089Serfs)duplicationLikely pathogenic, Pathogenicrs80359380GRCh37Chr 13, 32911756: 32911756
242BRCA2NM_000059.3(BRCA2): c.3308T> G (p.Leu1103Ter)single nucleotide variantPathogenicrs397507305GRCh37Chr 13, 32911800: 32911800
243BRCA2NM_000059.3(BRCA2): c.3545_3546delTT (p.Phe1182Terfs)deletionPathogenicrs80359388GRCh37Chr 13, 32912037: 32912038
244BRCA2NM_000059.3(BRCA2): c.3689delC (p.Ser1230Leufs)deletionPathogenicrs80359398GRCh37Chr 13, 32912181: 32912181
245BRCA2NM_000059.3(BRCA2): c.3717delA (p.Lys1239Asnfs)deletionPathogenicrs80359401GRCh37Chr 13, 32912209: 32912209
246BRCA2NM_000059.3(BRCA2): c.3744_3747delTGAG (p.Ser1248Argfs)deletionPathogenicrs80359403GRCh37Chr 13, 32912236: 32912239
247BRCA2NM_000059.3(BRCA2): c.3847_3848delGT (p.Val1283Lysfs)deletionPathogenicrs80359405GRCh37Chr 13, 32912339: 32912340
248BRCA2NM_000059.3(BRCA2): c.3848dupT (p.Ser1284Lysfs)duplicationPathogenicrs397507317GRCh37Chr 13, 32912340: 32912340
249BRCA2NM_000059.3(BRCA2): c.3865_3868delAAAT (p.Lys1289Alafs)deletionPathogenicrs80359412GRCh37Chr 13, 32912357: 32912360
250BRCA2NM_000059.3(BRCA2): c.389delT (p.Ser131Profs)deletionPathogenicrs397507318GRCh37Chr 13, 32899285: 32899285
251BRCA2NM_000059.3(BRCA2): c.3922G> T (p.Glu1308Ter)single nucleotide variantPathogenicrs80358638GRCh37Chr 13, 32912414: 32912414
252BRCA2NM_000059.3(BRCA2): c.396T> A (p.Cys132Ter)single nucleotide variantPathogenicrs397507320GRCh37Chr 13, 32899292: 32899292
253BRCA2NM_000059.3(BRCA2): c.3978_3979ins4insertionPathogenicrs397515636GRCh37Chr 13, 32912470: 32912471
254BRCA2NM_000059.3(BRCA2): c.3G> T (p.Met1Ile)single nucleotide variantPathogenicrs80358650GRCh37Chr 13, 32890600: 32890600
255BRCA2NM_000059.3(BRCA2): c.3delG (p.Met1Ilefs)deletionPathogenicrs80359418GRCh37Chr 13, 32890600: 32890600
256BRCA2NM_000059.3(BRCA2): c.4013delG (p.Gly1338Alafs)deletionPathogenicrs397507321GRCh37Chr 13, 32912505: 32912505
257BRCA2NM_000059.3(BRCA2): c.4058_4062delAAACG (p.Glu1353Glyfs)deletionPathogenicrs397507322GRCh37Chr 13, 32912550: 32912554
258BRCA2NM_000059.3(BRCA2): c.407delA (p.Asn136Ilefs)deletionPathogenicrs80359425GRCh37Chr 13, 32899303: 32899303
259BRCA2NM_000059.3(BRCA2): c.4092_4093delAT (p.Ile1364Metfs)deletionPathogenicrs80359426GRCh37Chr 13, 32912584: 32912585
260BRCA2NM_000059.3(BRCA2): c.4127_4130delGAAA (p.Gly1376Alafs)deletionPathogenicrs397507323GRCh37Chr 13, 32912619: 32912622
261BRCA2NM_000059.3(BRCA2): c.4131_4132ins6insertionPathogenicrs80359429GRCh37Chr 13, 32912623: 32912624
262BRCA2NM_000059.3(BRCA2): c.4151T> A (p.Leu1384Ter)single nucleotide variantPathogenicrs397507325GRCh37Chr 13, 32912643: 32912643
263BRCA2NM_000059.3(BRCA2): c.4163_4164delCTinsA (p.Thr1388Asnfs)indelPathogenicrs276174843GRCh37Chr 13, 32912655: 32912656
264BRCA2NM_000059.3(BRCA2): c.4222C> T (p.Gln1408Ter)single nucleotide variantPathogenicrs80358663GRCh37Chr 13, 32912714: 32912714
265BRCA2NM_000059.3(BRCA2): c.4243G> T (p.Glu1415Ter)single nucleotide variantPathogenicrs397507327GRCh37Chr 13, 32912735: 32912735
266BRCA2NM_000059.3(BRCA2): c.4276dupA (p.Thr1426Asnfs)duplicationPathogenicrs80359438GRCh37Chr 13, 32912768: 32912768
267BRCA2NM_000059.3(BRCA2): c.4284dupT (p.Gln1429Serfs)duplicationLikely pathogenic, Pathogenicrs80359439GRCh37Chr 13, 32912776: 32912776
268BRCA2NM_000059.3(BRCA2): c.4319_4320delAA (p.Lys1440Argfs)deletionPathogenicrs397507328GRCh37Chr 13, 32912811: 32912812
269BRCA2NM_000059.3(BRCA2): c.4405_4409delGACAT (p.Asp1469Lysfs)deletionPathogenicrs397507331GRCh37Chr 13, 32912897: 32912901
270BRCA2NM_000059.3(BRCA2): c.4414_4415delAA (p.Lys1472Glufs)deletionPathogenicrs397507332GRCh37Chr 13, 32912906: 32912907
271BRCA2NM_000059.3(BRCA2): c.4415_4418delAGAA (p.Lys1472Thrfs)deletionPathogenicrs397507333GRCh37Chr 13, 32912907: 32912910
272BRCA2NM_000059.3(BRCA2): c.4449delA (p.Asp1484Thrfs)deletionPathogenicrs80359448GRCh37Chr 13, 32912941: 32912941
273BRCA2NM_000059.3(BRCA2): c.4470dupA (p.Leu1491Thrfs)duplicationPathogenicrs397507334GRCh37Chr 13, 32912962: 32912962
274BRCA2NM_000059.3(BRCA2): c.4472_4475delTGAA (p.Leu1491Glnfs)deletionPathogenicrs80359452GRCh37Chr 13, 32912964: 32912967
275BRCA2NM_000059.3(BRCA2): c.4631dupA (p.Asn1544Lysfs)duplicationPathogenicrs80359460GRCh37Chr 13, 32913123: 32913123
276BRCA2NM_000059.3(BRCA2): c.4631delA (p.Asn1544Thrfs)deletionLikely pathogenic, Pathogenicrs80359461GRCh37Chr 13, 32913123: 32913123
277BRCA2NM_000059.3(BRCA2): c.4638delT (p.Phe1546Leufs)deletionPathogenicrs80359462GRCh37Chr 13, 32913130: 32913130
278BRCA2NM_000059.3(BRCA2): c.4712_4713delAG (p.Glu1571Glyfs)deletionPathogenicrs80359464GRCh37Chr 13, 32913204: 32913205
279BRCA2NM_000059.3(BRCA2): c.476-1G> Asingle nucleotide variantPathogenicrs397507340GRCh37Chr 13, 32900378: 32900378
280BRCA2NM_000059.3(BRCA2): c.4876_4877delAA (p.Asn1626Serfs)deletionPathogenicrs80359470GRCh37Chr 13, 32913368: 32913369
281BRCA2NM_000059.3(BRCA2): c.4921_4924delGAAA (p.Glu1641Metfs)deletionPathogenicrs397507344GRCh37Chr 13, 32913413: 32913416
282BRCA2NM_000059.3(BRCA2): c.4936_4939delGAAA (p.Glu1646Glnfs)deletionPathogenicrs80359473GRCh37Chr 13, 32913428: 32913431
283BRCA2NM_000059.3(BRCA2): c.4965C> G (p.Tyr1655Ter)single nucleotide variantPathogenicrs80358721GRCh37Chr 13, 32913457: 32913457
284BRCA2NM_000059.3(BRCA2): c.5000C> G (p.Ser1667Ter)single nucleotide variantPathogenicrs397507346GRCh37Chr 13, 32913492: 32913492
285BRCA2NM_000059.3(BRCA2): c.5035delA (p.Thr1679Leufs)deletionPathogenicrs80359477GRCh37Chr 13, 32913527: 32913527
286BRCA2NM_000059.3(BRCA2): c.5042_5043delTG (p.Val1681Glufs)deletionPathogenicrs80359478GRCh37Chr 13, 32913534: 32913535
287BRCA2NM_000059.3(BRCA2): c.5073dupA (p.Trp1692Metfs)duplicationPathogenicrs80359480GRCh37Chr 13, 32913565: 32913565
288BRCA2NM_000059.3(BRCA2): c.5080A> T (p.Arg1694Ter)single nucleotide variantPathogenicrs200265692GRCh37Chr 13, 32913572: 32913572
289BRCA2NM_000059.3(BRCA2): c.518delG (p.Gly173Valfs)deletionPathogenicrs80359492GRCh37Chr 13, 32900637: 32900637
290BRCA2NM_000059.3(BRCA2): c.5213_5216delCTTA (p.Thr1738Ilefs)deletionPathogenicrs80359493GRCh37Chr 13, 32913705: 32913708
291BRCA2NM_000059.3(BRCA2): c.5229_5231delTAG (p.Ser1744del)deletionPathogenicrs397507349GRCh37Chr 13, 32913721: 32913723
292BRCA2NM_000059.3(BRCA2): c.5238dupT (p.Asn1747Terfs)duplicationPathogenicrs80359499GRCh37Chr 13, 32913730: 32913730
293BRCA2NM_000059.3(BRCA2): c.5266_5269delGTAT (p.Val1756Ilefs)deletionPathogenicrs80359501GRCh37Chr 13, 32913758: 32913761
294BRCA2NM_000059.3(BRCA2): c.5290_5291delTC (p.Ser1764Lysfs)deletionPathogenicrs80359503GRCh37Chr 13, 32913782: 32913783
295BRCA2NM_000059.3(BRCA2): c.5303_5304delTT (p.Leu1768Argfs)deletionPathogenicrs80359505GRCh37Chr 13, 32913795: 32913796
296BRCA2NM_000059.3(BRCA2): c.5350_5351delAA (p.Asn1784Hisfs)deletionPathogenicrs80359507GRCh37Chr 13, 32913842: 32913843
297BRCA2NM_000059.3(BRCA2): c.5351dupA (p.Asn1784Lysfs)duplicationPathogenicrs80359508GRCh37Chr 13, 32913843: 32913843
298BRCA2NM_000059.3(BRCA2): c.5351delA (p.Asn1784Thrfs)deletionPathogenicrs80359509GRCh37Chr 13, 32913843: 32913843
299BRCA2NM_000059.3(BRCA2): c.5410_5411delGT (p.Val1804Lysfs)deletionPathogenicrs80359512GRCh37Chr 13, 32913902: 32913903
300BRCA2NM_000059.3(BRCA2): c.5436delA (p.Glu1812Aspfs)deletionPathogenicrs397507351GRCh37Chr 13, 32913928: 32913928
301BRCA2NM_000059.3(BRCA2): c.5471dupA (p.Asn1824Lysfs)duplicationPathogenicrs80359515GRCh37Chr 13, 32913963: 32913963
302BRCA2NM_000059.3(BRCA2): c.5498delA (p.Asn1833Ilefs)deletionPathogenicrs397507353GRCh37Chr 13, 32913990: 32913990
303BRCA2NM_000059.3(BRCA2): c.5576_5579delTTAA (p.Ile1859Lysfs)deletionPathogenicrs80359520GRCh37Chr 13, 32914068: 32914071
304BRCA2NM_000059.3(BRCA2): c.5577delT (p.Val1862Terfs)deletionPathogenicrs397507355GRCh37Chr 13, 32914069: 32914069
305BRCA2NM_000059.3(BRCA2): c.5595_5596delAT (p.Phe1866Tyrfs)deletionPathogenicrs80359524GRCh37Chr 13, 32914087: 32914088
306BRCA2NM_000059.3(BRCA2): c.5603_5606delACAG (p.Asp1868Valfs)deletionPathogenicrs397507356GRCh37Chr 13, 32914095: 32914098
307BRCA2NM_000059.3(BRCA2): c.5614A> T (p.Lys1872Ter)single nucleotide variantPathogenicrs80358783GRCh37Chr 13, 32914106: 32914106
308BRCA2NM_000059.3(BRCA2): c.5621_5624delTTAA (p.Ile1874Argfs)deletionPathogenicrs80359526GRCh37Chr 13, 32914113: 32914116
309BRCA2NM_000059.3(BRCA2): c.5631delC (p.Asn1877Lysfs)deletionPathogenicrs397507357GRCh37Chr 13, 32914123: 32914123
310BRCA2NM_000059.3(BRCA2): c.5645C> A (p.Ser1882Ter)single nucleotide variantPathogenicrs80358785GRCh37Chr 13, 32914137: 32914137
311BRCA2NM_000059.3(BRCA2): c.5655C> A (p.Cys1885Ter)single nucleotide variantPathogenicrs80358789GRCh37Chr 13, 32914147: 32914147
312BRCA2NM_000059.3(BRCA2): c.5681dupA (p.Tyr1894Terfs)duplicationPathogenicrs80359527GRCh37Chr 13, 32914173: 32914173
313BRCA2NM_000059.3(BRCA2): c.5682C> G (p.Tyr1894Ter)single nucleotide variantPathogenicrs41293497GRCh37Chr 13, 32914174: 32914174
314BRCA2NM_000059.3(BRCA2): c.574_575delAT (p.Met192Valfs)deletionPathogenicrs80359533GRCh37Chr 13, 32900693: 32900694
315BRCA2NM_000059.3(BRCA2): c.5782G> T (p.Glu1928Ter)single nucleotide variantPathogenicrs56253082GRCh37Chr 13, 32914274: 32914274
316BRCA2NM_000059.3(BRCA2): c.5799_5802delCCAA (p.Asn1933Lysfs)deletionPathogenicrs80359538GRCh37Chr 13, 32914291: 32914294
317BRCA2NM_000059.3(BRCA2): c.5828delC (p.Ser1943Leufs)deletionPathogenicrs80359541GRCh37Chr 13, 32914320: 32914320
318BRCA2NM_000059.3(BRCA2): c.582G> A (p.Trp194Ter)single nucleotide variantPathogenicrs80358810GRCh37Chr 13, 32900701: 32900701
319BRCA2NM_000059.3(BRCA2): c.5851_5854delAGTT (p.Ser1951Trpfs)deletionLikely pathogenic, Pathogenicrs80359543GRCh37Chr 13, 32914343: 32914346
320BRCA2NM_000059.3(BRCA2): c.5855T> A (p.Leu1952Ter)single nucleotide variantLikely pathogenic, Pathogenicrs375064902GRCh37Chr 13, 32914347: 32914347
321BRCA2NM_000059.3(BRCA2): c.5909C> A (p.Ser1970Ter)single nucleotide variantPathogenicrs80358824GRCh37Chr 13, 32914401: 32914401
322BRCA2NM_000059.3(BRCA2): c.5980C> T (p.Gln1994Ter)single nucleotide variantPathogenicrs80358831GRCh37Chr 13, 32914472: 32914472
323BRCA2NM_000059.3(BRCA2): c.6011_6017delAAGATAG (p.Glu2004Valfs)deletionPathogenicrs397507362GRCh37Chr 13, 32914503: 32914509
324BRCA2NM_000059.3(BRCA2): c.6024dupG (p.Gln2009Alafs)duplicationPathogenicrs80359554GRCh37Chr 13, 32914516: 32914516
325BRCA2NM_000059.3(BRCA2): c.6037A> T (p.Lys2013Ter)single nucleotide variantLikely pathogenic, Pathogenicrs80358840GRCh37Chr 13, 32914529: 32914529
326BRCA2NM_000059.3(BRCA2): c.6206T> G (p.Leu2069Ter)single nucleotide variantPathogenicrs80358859GRCh37Chr 13, 32914698: 32914698
327BRCA2NM_000059.3(BRCA2): c.6267_6269delGCAinsC (p.Glu2089Aspfs)indelPathogenicrs276174868GRCh37Chr 13, 32914759: 32914761
328BRCA2NM_000059.3(BRCA2): c.631G> C (p.Val211Leu)single nucleotide variantPathogenicrs80358871GRCh37Chr 13, 32900750: 32900750
329BRCA2NM_000059.3(BRCA2): c.6333_6337delGAGAA (p.Arg2112Profs)deletionPathogenicrs397507369GRCh37Chr 13, 32914825: 32914829
330BRCA2NM_000059.3(BRCA2): c.6373dupA (p.Thr2125Asnfs)duplicationPathogenicrs80359577GRCh37Chr 13, 32914865: 32914865
331BRCA2NM_000059.3(BRCA2): c.6405_6409delCTTAA (p.Asn2135Lysfs)deletionPathogenicrs80359584GRCh37Chr 13, 32914897: 32914901
332BRCA2NM_000059.3(BRCA2): c.6434_6441delATAATCAC (p.Asn2145Ilefs)deletionPathogenicrs397507371GRCh37Chr 13, 32914926: 32914933
333BRCA2NM_000059.3(BRCA2): c.6444dupT (p.Ile2149Tyrfs)duplicationPathogenicrs80359590GRCh37Chr 13, 32914936: 32914936
334BRCA2NM_000059.3(BRCA2): c.6468_6469delTC (p.Gln2157Ilefs)deletionPathogenicrs80359596GRCh37Chr 13, 32914960: 32914961
335BRCA2NM_000059.3(BRCA2): c.6486_6489delACAA (p.Lys2162Asnfs)deletionPathogenicrs80359598GRCh37Chr 13, 32914978: 32914981
336BRCA2NM_000059.3(BRCA2): c.6535_6536insA (p.Val2179Aspfs)insertionPathogenicrs80359601GRCh37Chr 13, 32915027: 32915028
337BRCA2NM_000059.3(BRCA2): c.6566dupA (p.Asn2189Lysfs)duplicationPathogenicrs397507373GRCh37Chr 13, 32915058: 32915058
338BRCA2NM_000059.3(BRCA2): c.6641dupC (p.Tyr2215Leufs)duplicationPathogenicrs80359613GRCh37Chr 13, 32915133: 32915133
339BRCA2NM_000059.3(BRCA2): c.6644_6647delACTC (p.Tyr2215Serfs)deletionPathogenicrs80359616GRCh37Chr 13, 32915136: 32915139
340BRCA2NM_000059.3(BRCA2): c.6724_6725delGA (p.Asp2242Phefs)deletionPathogenicrs397507375GRCh37Chr 13, 32915216: 32915217
341BRCA2NM_000059.3(BRCA2): c.688A> T (p.Lys230Ter)single nucleotide variantPathogenicrs80358913GRCh37Chr 13, 32905062: 32905062
342BRCA2NM_000059.3(BRCA2): c.6941delC (p.Thr2314Lysfs)deletionLikely pathogenic, Pathogenicrs80359628GRCh37Chr 13, 32920967: 32920967
343BRCA2NM_000059.3(BRCA2): c.6944_6947delTAAA (p.Ile2315Lysfs)deletionPathogenicrs80359629GRCh37Chr 13, 32920970: 32920973
344BRCA2NM_000059.3(BRCA2): c.6952C> T (p.Arg2318Ter)single nucleotide variantPathogenicrs80358920GRCh37Chr 13, 32920978: 32920978
345BRCA2NM_000059.3(BRCA2): c.7007G> A (p.Arg2336His)single nucleotide variantPathogenicrs28897743GRCh37Chr 13, 32921033: 32921033
346BRCA2NM_000059.3(BRCA2): c.700delT (p.Ser234Profs)deletionPathogenicrs80359630GRCh37Chr 13, 32905074: 32905074
347BRCA2NM_000059.3(BRCA2): c.7069_7070delCT (p.Leu2357Valfs)deletionPathogenicrs80359636GRCh37Chr 13, 32929059: 32929060
348BRCA2NM_000059.3(BRCA2): c.7133C> G (p.Ser2378Ter)single nucleotide variantPathogenicrs276174889GRCh37Chr 13, 32929123: 32929123
349BRCA2NM_000059.3(BRCA2): c.7185_7190delCTTGATinsAG (p.His2395Glnfs)indelPathogenicrs397507383GRCh37Chr 13, 32929175: 32929180
350BRCA2NM_000059.3(BRCA2): c.7235C> T (p.Thr2412Ile)single nucleotide variantPathogenicrs397507384GRCh37Chr 13, 32929225: 32929225
351BRCA2NM_000059.3(BRCA2): c.7258G> T (p.Glu2420Ter)single nucleotide variantPathogenicrs397507385GRCh37Chr 13, 32929248: 32929248
352BRCA2NM_000059.3(BRCA2): c.7342_7343delAA (p.Lys2448Aspfs)deletionPathogenicrs397507386GRCh37Chr 13, 32929332: 32929333
353BRCA2NM_000059.3(BRCA2): c.7379_7382delACAA (p.Asn2460Thrfs)deletionPathogenicrs80359648GRCh37Chr 13, 32929369: 32929372
354BRCA2NM_000059.3(BRCA2): c.740_741insAG (p.Ser249Leufs)insertionPathogenicrs397507387GRCh37Chr 13, 32905114: 32905115
355BRCA2NM_000059.3(BRCA2): c.7412_7421delCAAAGTGTGA (p.Thr2471Lysfs)deletionPathogenicrs80359649GRCh37Chr 13, 32929402: 32929411
356BRCA2NM_000059.3(BRCA2): c.7414_7415delAA (p.Lys2472Valfs)deletionPathogenicrs80359650GRCh37Chr 13, 32929404: 32929405
357BRCA2NM_000059.3(BRCA2): c.7419_7420delTG (p.Cys2473Terfs)deletionPathogenicrs80359651GRCh37Chr 13, 32929409: 32929410
358BRCA2NM_000059.3(BRCA2): c.7480C> T (p.Arg2494Ter)single nucleotide variantPathogenicrs80358972GRCh37Chr 13, 32930609: 32930609
359BRCA2NM_000059.3(BRCA2): c.7543dupA (p.Thr2515Asnfs)duplicationPathogenicrs80359657GRCh37Chr 13, 32930672: 32930672
360BRCA2NM_000059.3(BRCA2): c.755_758delACAG (p.Asp252Valfs)deletionPathogenicrs80359659GRCh37Chr 13, 32905129: 32905132
361BRCA2NM_000059.3(BRCA2): c.7567_7568delCT (p.Leu2523Glufs)deletionPathogenicrs80359664GRCh37Chr 13, 32930696: 32930697
362BRCA2NM_000059.3(BRCA2): c.756_757delCA (p.Asp252Glufs)deletionPathogenicrs80359662GRCh37Chr 13, 32905130: 32905131
363BRCA2NM_000059.3(BRCA2): c.7618-1G> Asingle nucleotide variantPathogenicrs397507389GRCh37Chr 13, 32931878: 32931878
364BRCA2NM_000059.3(BRCA2): c.7673_7674delAG (p.Glu2558Valfs)deletionPathogenicrs80359672GRCh37Chr 13, 32931934: 32931935
365BRCA2NM_000059.3(BRCA2): c.7758G> A (p.Trp2586Ter)single nucleotide variantPathogenicrs80359004GRCh37Chr 13, 32932019: 32932019
366BRCA2NM_000059.3(BRCA2): c.7762_7764delATAins2indelPathogenicrs483353072GRCh37Chr 13, 32932023: 32932025
367BRCA2NM_000059.3(BRCA2): c.778_779delGA (p.Glu260Serfs)deletionPathogenicrs80359677GRCh37Chr 13, 32905152: 32905153
368BRCA2NM_000059.3(BRCA2): c.7857G> A (p.Trp2619Ter)single nucleotide variantPathogenicrs80359011GRCh37Chr 13, 32936711: 32936711
369BRCA2NM_000059.3(BRCA2): c.7868A> G (p.His2623Arg)single nucleotide variantLikely pathogenicrs80359012GRCh37Chr 13, 32936722: 32936722
370BRCA2NM_000059.3(BRCA2): c.7878G> A (p.Trp2626Ter)single nucleotide variantPathogenicrs80359013GRCh37Chr 13, 32936732: 32936732
371BRCA2NM_000059.3(BRCA2): c.7878G> C (p.Trp2626Cys)single nucleotide variantPathogenicrs80359013GRCh37Chr 13, 32936732: 32936732
372BRCA2NM_000059.3(BRCA2): c.7913_7917delTTCCT (p.Phe2638Terfs)deletionPathogenicrs80359686GRCh37Chr 13, 32936767: 32936771
373BRCA2NM_000059.3(BRCA2): c.7963C> T (p.Gln2655Ter)single nucleotide variantPathogenicrs397507395GRCh37Chr 13, 32936817: 32936817
374BRCA2NM_000059.3(BRCA2): c.7974C> G (p.Tyr2658Ter)single nucleotide variantPathogenicrs80359025GRCh37Chr 13, 32936828: 32936828
375BRCA2NM_000059.3(BRCA2): c.7976G> A (p.Arg2659Lys)single nucleotide variantPathogenicrs80359027GRCh37Chr 13, 32936830: 32936830
376BRCA2NM_000059.3(BRCA2): c.7977-1G> Csingle nucleotide variantPathogenicrs81002874GRCh37Chr 13, 32937315: 32937315
377BRCA2NM_000059.3(BRCA2): c.7977-3_7977-1del3ins2indelPathogenicrs483353073GRCh37Chr 13, 32937313: 32937315
378BRCA2NM_000059.3(BRCA2): c.8168A> G (p.Asp2723Gly)single nucleotide variantPathogenicrs41293513GRCh37Chr 13, 32937507: 32937507
379BRCA2NM_000059.3(BRCA2): c.8205_8206delCC (p.Leu2737Serfs)deletionPathogenicrs397507396GRCh37Chr 13, 32937544: 32937545
380BRCA2NM_000059.3(BRCA2): c.8253dupT (p.Ile2752Tyrfs)duplicationPathogenicrs80359704GRCh37Chr 13, 32937592: 32937592
381BRCA2NM_000059.3(BRCA2): c.826_830delGTAAA (p.Val276Terfs)deletionPathogenicrs397507400GRCh37Chr 13, 32906441: 32906445
382BRCA2NM_000059.3(BRCA2): c.8297delC (p.Thr2766Asnfs)deletionPathogenicrs80359705GRCh37Chr 13, 32937636: 32937636
383BRCA2NM_000059.3(BRCA2): c.8322dupT (p.Met2775Tyrfs)duplicationPathogenicrs80359706GRCh37Chr 13, 32937661: 32937661
384BRCA2NM_000059.3(BRCA2): c.8331+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs81002837GRCh37Chr 13, 32937671: 32937671
385BRCA2NM_000059.3(BRCA2): c.8414_8416delTATinsC (p.Leu2805Serfs)indelPathogenicrs397507402GRCh37Chr 13, 32944621: 32944623
386BRCA2NM_000059.3(BRCA2): c.8487+1G> Tsingle nucleotide variantPathogenicrs81002798GRCh37Chr 13, 32944695: 32944695
387BRCA2NM_000059.3(BRCA2): c.8488-1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs397507404GRCh37Chr 13, 32945092: 32945092
388BRCA2NM_000059.3(BRCA2): c.8501delC (p.Thr2834Asnfs)deletionPathogenicrs80359712GRCh37Chr 13, 32945106: 32945106
389BRCA2NM_000059.3(BRCA2): c.8548_8551delGAAG (p.Glu2850Glnfs)deletionPathogenicrs397507406GRCh37Chr 13, 32945153: 32945156
390BRCA2NM_000059.3(BRCA2): c.8575delC (p.Gln2859Lysfs)deletionPathogenicrs80359718GRCh37Chr 13, 32945180: 32945180
391BRCA2NM_000059.3(BRCA2): c.8585dupT (p.Glu2863Argfs)duplicationPathogenicrs80359720GRCh37Chr 13, 32945190: 32945190
392BRCA2NM_000059.3(BRCA2): c.8633-2A> Gsingle nucleotide variantPathogenicrs81002886GRCh37Chr 13, 32950805: 32950805
393BRCA2NM_000059.3(BRCA2): c.8677C> T (p.Gln2893Ter)single nucleotide variantPathogenicrs397507409GRCh37Chr 13, 32950851: 32950851
394BRCA2NM_000059.3(BRCA2): c.8680delC (p.Gln2894Lysfs)deletionPathogenicrs397507410GRCh37Chr 13, 32950854: 32950854
395BRCA2NM_000059.3(BRCA2): c.8695C> T (p.Gln2899Ter)single nucleotide variantLikely pathogenic, Pathogenicrs397507411GRCh37Chr 13, 32950869: 32950869
396BRCA2NM_000059.3(BRCA2): c.8754+2T> Gsingle nucleotide variantPathogenicrs397507412GRCh37Chr 13, 32950930: 32950930
397BRCA2NM_000059.3(BRCA2): c.8869C> T (p.Gln2957Ter)single nucleotide variantPathogenicrs276174913GRCh37Chr 13, 32953568: 32953568
398BRCA2NM_000059.3(BRCA2): c.8904delC (p.Val2969Cysfs)deletionPathogenicrs80359730GRCh37Chr 13, 32953603: 32953603
399BRCA2NM_000059.3(BRCA2): c.8940dupA (p.Glu2981Argfs)duplicationPathogenicrs80359732GRCh37Chr 13, 32953639: 32953639
400BRCA2NM_000059.3(BRCA2): c.8946dupA (p.Asp2983Argfs)duplicationPathogenicrs80359733GRCh37Chr 13, 32953645: 32953645
401BRCA2NM_000059.3(BRCA2): c.8951C> G (p.Ser2984Ter)single nucleotide variantPathogenicrs80359146GRCh37Chr 13, 32953650: 32953650
402BRCA2NM_000059.3(BRCA2): c.8953+1G> Tsingle nucleotide variantPathogenicrs81002882GRCh37Chr 13, 32953653: 32953653
403BRCA2NM_000059.3(BRCA2): c.9004G> A (p.Glu3002Lys)single nucleotide variantLikely pathogenic, Pathogenicrs80359152GRCh37Chr 13, 32953937: 32953937
404BRCA2NM_000059.3(BRCA2): c.9026_9030delATCAT (p.Tyr3009Serfs)deletionPathogenicrs80359741GRCh37Chr 13, 32953959: 32953963
405BRCA2NM_000059.3(BRCA2): c.9060_9061insTT (p.Glu3021Leufs)insertionPathogenicrs397507418GRCh37Chr 13, 32953993: 32953994
406BRCA2NM_000059.3(BRCA2): c.9076C> T (p.Gln3026Ter)single nucleotide variantPathogenicrs80359159GRCh37Chr 13, 32954009: 32954009
407BRCA2NM_000059.3(BRCA2): c.9097dupA (p.Thr3033Asnfs)duplicationPathogenicrs397507419GRCh37Chr 13, 32954030: 32954030
408BRCA2NM_000059.3(BRCA2): c.9097delA (p.Thr3033Leufs)deletionPathogenicrs397507420GRCh37Chr 13, 32954030: 32954030
409BRCA2NM_000059.3(BRCA2): c.9117G> A (p.Pro3039=)single nucleotide variantPathogenicrs28897756GRCh37Chr 13, 32954050: 32954050
410BRCA2NM_000059.3(BRCA2): c.9235delG (p.Val3079Phefs)deletionPathogenicrs397507422GRCh37Chr 13, 32954261: 32954261
411BRCA2NM_000059.3(BRCA2): c.9253dupA (p.Thr3085Asnfs)duplicationLikely pathogenic, Pathogenicrs80359752GRCh37Chr 13, 32954279: 32954279
412BRCA2NM_000059.3(BRCA2): c.9274delT (p.Tyr3092Ilefs)deletionPathogenicrs397507424GRCh37Chr 13, 32968843: 32968843
413BRCA2NM_000059.3(BRCA2): c.9294C> A (p.Tyr3098Ter)single nucleotide variantPathogenicrs80359200GRCh37Chr 13, 32968863: 32968863
414BRCA2NM_000059.3(BRCA2): c.9294C> G (p.Tyr3098Ter)single nucleotide variantPathogenicrs80359200GRCh37Chr 13, 32968863: 32968863
415BRCA2NM_000059.3(BRCA2): c.9371A> T (p.Asn3124Ile)single nucleotide variantLikely pathogenic, Pathogenicrs28897759GRCh37Chr 13, 32968940: 32968940
416BRCA2NM_000059.3(BRCA2): c.9380G> A (p.Trp3127Ter)single nucleotide variantPathogenicrs80359211GRCh37Chr 13, 32968949: 32968949
417BRCA2NM_000059.3(BRCA2): c.9401delG (p.Gly3134Alafs)deletionPathogenicrs80359759GRCh37Chr 13, 32968970: 32968970
418BRCA2NM_000059.3(BRCA2): c.9435_9436delGT (p.Ser3147Cysfs)deletionPathogenicrs80359763GRCh37Chr 13, 32969004: 32969005
419BRCA2NM_000059.3(BRCA2): c.9523G> T (p.Glu3175Ter)single nucleotide variantPathogenicrs397507430GRCh37Chr 13, 32971056: 32971056
420BRCA2NM_000059.3(BRCA2): c.9580_9581delCC (p.Pro3194Asnfs)deletionPathogenicrs80359771GRCh37Chr 13, 32971113: 32971114
421BRCA2NM_000059.3(BRCA2): c.9599C> G (p.Ser3200Ter)single nucleotide variantPathogenicrs80359230GRCh37Chr 13, 32971132: 32971132
422BRCA2NM_000059.3(BRCA2): c.9699_9702delTATG (p.Cys3233Trpfs)deletionLikely pathogenic, Pathogenicrs80359775GRCh37Chr 13, 32972349: 32972352
423BRCA2NM_000059.3(BRCA2): c.998dupT (p.His334Profs)duplicationPathogenicrs397507437GRCh37Chr 13, 32906613: 32906613
424BRCA2NM_000059.3(BRCA2): c.5482_5486delAAATT (p.Lys1828Valfs)deletionPathogenicrs80359516GRCh37Chr 13, 32913974: 32913978
425BRCA2NM_000059.3(BRCA2): c.100G> T (p.Glu34Ter)single nucleotide variantLikely pathogenic, Pathogenicrs80358391GRCh37Chr 13, 32893246: 32893246
426BRCA2NM_000059.3(BRCA2): c.1097dupT (p.Leu366Phefs)duplicationPathogenicrs397507570GRCh37Chr 13, 32906712: 32906712
427BRCA2NM_000059.3(BRCA2): c.1103C> A (p.Ser368Ter)single nucleotide variantPathogenicrs80358407GRCh37Chr 13, 32906718: 32906718
428BRCA2NM_000059.3(BRCA2): c.1128delT (p.Phe376Leufs)deletionPathogenicrs80359263GRCh37Chr 13, 32906743: 32906743
429BRCA2NM_000059.3(BRCA2): c.1138delA (p.Ser380Valfs)deletionPathogenicrs80359264GRCh37Chr 13, 32906753: 32906753
430BRCA2NM_000059.3(BRCA2): c.1147delA (p.Ile383Serfs)deletionPathogenicrs80359265GRCh37Chr 13, 32906762: 32906762
431BRCA2NM_000059.3(BRCA2): c.1153A> T (p.Lys385Ter)single nucleotide variantPathogenicrs80358411GRCh37Chr 13, 32906768: 32906768
432BRCA2NM_000059.3(BRCA2): c.1189_1190insTTAG (p.Gln397Leufs)insertionPathogenicrs397515635GRCh37Chr 13, 32906804: 32906805
433BRCA2NM_000059.3(BRCA2): c.1202C> G (p.Ser401Ter)single nucleotide variantPathogenicrs80358413GRCh37Chr 13, 32906817: 32906817
434BRCA2NM_000059.3(BRCA2): c.1219delC (p.Gln407Argfs)deletionPathogenicrs80359267GRCh37Chr 13, 32906834: 32906834
435BRCA2NM_000059.3(BRCA2): c.1225delG (p.Glu409Argfs)deletionPathogenicrs80359268GRCh37Chr 13, 32906840: 32906840
436BRCA2NM_000059.3(BRCA2): c.1233dupA (p.Pro412Thrfs)duplicationPathogenicrs80359270GRCh37Chr 13, 32906848: 32906848
437BRCA2NM_000059.3(BRCA2): c.1261C> T (p.Gln421Ter)single nucleotide variantPathogenicrs80358419GRCh37Chr 13, 32906876: 32906876
438BRCA2NM_000059.3(BRCA2): c.1278delA (p.Asp427Thrfs)deletionPathogenicrs80359274GRCh37Chr 13, 32906893: 32906893
439BRCA2NM_000059.3(BRCA2): c.128delA (p.Asn43Ilefs)deletionPathogenicrs80359275GRCh37Chr 13, 32893274: 32893274
440BRCA2NM_000059.3(BRCA2): c.1307delA (p.Lys436Argfs)deletionPathogenicrs80359278GRCh37Chr 13, 32906922: 32906922
441BRCA2NM_000059.3(BRCA2): c.1327G> T (p.Glu443Ter)single nucleotide variantLikely pathogenic, Pathogenicrs397507579GRCh37Chr 13, 32906942: 32906942
442BRCA2NM_000059.3(BRCA2): c.1362delA (p.Lys454Asnfs)deletionPathogenicrs397507582GRCh37Chr 13, 32906977: 32906977
443BRCA2NM_000059.3(BRCA2): c.1389_1390delAG (p.Val464Glyfs)deletionPathogenicrs80359283GRCh37Chr 13, 32907004: 32907005
444BRCA2NM_000059.3(BRCA2): c.1399A> T (p.Lys467Ter)single nucleotide variantPathogenicrs80358427GRCh37Chr 13, 32907014: 32907014
445BRCA2NM_000059.3(BRCA2): c.1411G> T (p.Glu471Ter)single nucleotide variantPathogenicrs80358428GRCh37Chr 13, 32907026: 32907026
446BRCA2NM_000059.3(BRCA2): c.1414C> T (p.Gln472Ter)single nucleotide variantPathogenicrs80358429GRCh37Chr 13, 32907029: 32907029
447BRCA2NM_000059.3(BRCA2): c.1456C> T (p.Gln486Ter)single nucleotide variantPathogenicrs80358434GRCh37Chr 13, 32907071: 32907071
448BRCA2NM_000059.3(BRCA2): c.145G> T (p.Glu49Ter)single nucleotide variantLikely pathogenic, Pathogenicrs80358435GRCh37Chr 13, 32893291: 32893291
449BRCA2NM_000059.3(BRCA2): c.1496_1497delAG (p.Gln499Argfs)deletionPathogenicrs80359285GRCh37Chr 13, 32907111: 32907112
450BRCA2NM_000059.3(BRCA2): c.1499delG (p.Gly500Valfs)deletionPathogenicrs397507591GRCh37Chr 13, 32907114: 32907114
451BRCA2NM_000059.3(BRCA2): c.1511_1512delCT (p.Ser504Tyrfs)deletionPathogenicrs80359286GRCh37Chr 13, 32907126: 32907127
452BRCA2NM_000059.3(BRCA2): c.151delG (p.Glu51Asnfs)deletionPathogenicrs80359287GRCh37Chr 13, 32893297: 32893297
453BRCA2NM_000059.3(BRCA2): c.1528G> T (p.Glu510Ter)single nucleotide variantPathogenicrs80358438GRCh37Chr 13, 32907143: 32907143
454BRCA2NM_000059.3(BRCA2): c.1547delT (p.Phe516Serfs)deletionPathogenicrs80359289GRCh37Chr 13, 32907162: 32907162
455BRCA2NM_000059.3(BRCA2): c.1595_1599delAAACT (p.Glu532Glyfs)deletionPathogenicrs80359291GRCh37Chr 13, 32907210: 32907214
456BRCA2NM_000059.3(BRCA2): c.1597delA (p.Thr533Leufs)deletionPathogenicrs80359292GRCh37Chr 13, 32907212: 32907212
457BRCA2NM_000059.3(BRCA2): c.1599_1600delTG (p.Glu534Serfs)deletionPathogenicrs80359293GRCh37Chr 13, 32907214: 32907215
458BRCA2NM_000059.3(BRCA2): c.1617delA (p.Leu540Trpfs)deletionPathogenicrs80359294GRCh37Chr 13, 32907232: 32907232
459BRCA2NM_000059.3(BRCA2): c.1631_1632delCT (p.Thr544Serfs)deletionPathogenicrs80359295GRCh37Chr 13, 32907246: 32907247
460BRCA2NM_000059.3(BRCA2): c.1654delT (p.Ser552Profs)deletionPathogenicrs80359297GRCh37Chr 13, 32907269: 32907269
461BRCA2NM_000059.3(BRCA2): c.1670T> G (p.Leu557Ter)single nucleotide variantPathogenicrs80358452GRCh37Chr 13, 32907285: 32907285
462BRCA2NM_000059.3(BRCA2): c.1681G> T (p.Gly561Ter)single nucleotide variantPathogenicrs80358455GRCh37Chr 13, 32907296: 32907296
463BRCA2NM_000059.3(BRCA2): c.1689G> A (p.Trp563Ter)single nucleotide variantPathogenicrs80358456GRCh37Chr 13, 32907304: 32907304
464BRCA2NM_000059.3(BRCA2): c.1705delC (p.Gln569Argfs)deletionPathogenicrs80359300GRCh37Chr 13, 32907320: 32907320
465BRCA2NM_000059.3(BRCA2): c.170dupA (p.Tyr57Terfs)duplicationPathogenicrs80359299GRCh37Chr 13, 32893316: 32893316
466BRCA2NM_000059.3(BRCA2): c.1748T> A (p.Leu583Ter)single nucleotide variantPathogenicrs397507604GRCh37Chr 13, 32907363: 32907363
467BRCA2NM_000059.3(BRCA2): c.1754delA (p.Lys585Argfs)deletionPathogenicrs80359301GRCh37Chr 13, 32907369: 32907369
468BRCA2NM_000059.3(BRCA2): c.1763_1766delATAA (p.Asn588Serfs)deletionPathogenicrs80359303GRCh37Chr 13, 32907378: 32907381
469BRCA2NM_000059.3(BRCA2): c.1773_1776delTTAT (p.Ile591Metfs)deletionPathogenicrs80359304GRCh37Chr 13, 32907388: 32907391
470BRCA2NM_000059.3(BRCA2): c.1789G> T (p.Glu597Ter)single nucleotide variantPathogenicrs80358461GRCh37Chr 13, 32907404: 32907404
471BRCA2NM_000059.3(BRCA2): c.17_18delAA (p.Lys6Argfs)deletionPathogenicrs80359298GRCh37Chr 13, 32890614: 32890615
472BRCA2NM_000059.3(BRCA2): c.1800T> G (p.Tyr600Ter)single nucleotide variantPathogenicrs80358464GRCh37Chr 13, 32907415: 32907415
473BRCA2NM_000059.3(BRCA2): c.1815dupA (p.Pro606Thrfs)duplicationPathogenicrs80359310GRCh37Chr 13, 32907430: 32907430
474BRCA2NM_000059.3(BRCA2): c.1825C> T (p.Gln609Ter)single nucleotide variantPathogenicrs80358472GRCh37Chr 13, 32907440: 32907440
475BRCA2NM_000059.3(BRCA2): c.1831delT (p.Ser611Glnfs)deletionPathogenicrs80359311GRCh37Chr 13, 32907446: 32907446
476BRCA2NM_000059.3(BRCA2): c.1842dupT (p.Asn615Terfs)duplicationPathogenicrs80359312GRCh37Chr 13, 32907457: 32907457
477BRCA2NM_000059.3(BRCA2): c.1854delCinsAA (p.Gln619Thrfs)indelPathogenicrs276174815GRCh37Chr 13, 32907469: 32907469
478BRCA2NM_000059.3(BRCA2): c.1855C> T (p.Gln619Ter)single nucleotide variantPathogenicrs80358476GRCh37Chr 13, 32907470: 32907470
479BRCA2NM_000059.3(BRCA2): c.1888dupA (p.Thr630Asnfs)duplicationPathogenicrs80359314GRCh37Chr 13, 32907503: 32907503
480BRCA2NM_000059.3(BRCA2): c.1889delC (p.Thr630Asnfs)deletionPathogenicrs80359315GRCh37Chr 13, 32907504: 32907504
481BRCA2NM_000059.3(BRCA2): c.196C> T (p.Gln66Ter)single nucleotide variantPathogenicrs397507617GRCh37Chr 13, 32893342: 32893342
482BRCA2NM_000059.3(BRCA2): c.2026delT (p.Cys676Valfs)deletionPathogenicrs80359317GRCh37Chr 13, 32910518: 32910518
483BRCA2NM_000059.3(BRCA2): c.204delA (p.Lys68Asnfs)deletionPathogenicrs80359320GRCh37Chr 13, 32893350: 32893350
484BRCA2NM_000059.3(BRCA2): c.2064T> G (p.Tyr688Ter)single nucleotide variantPathogenicrs80358485GRCh37Chr 13, 32910556: 32910556
485BRCA2NM_000059.3(BRCA2): c.2084_2088delAGGAA (p.Glu696Thrfs)deletionPathogenicrs80359321GRCh37Chr 13, 32910576: 32910580
486BRCA2NM_000059.3(BRCA2): c.2094delA (p.Gln699Serfs)deletionPathogenicrs80359323GRCh37Chr 13, 32910586: 32910586
487BRCA2NM_000059.3(BRCA2): c.2103_2106delTATT (p.Phe701Leufs)deletionPathogenicrs80359324GRCh37Chr 13, 32910595: 32910598
488BRCA2NM_000059.3(BRCA2): c.215delAinsTT (p.Asn72Ilefs)indelPathogenicrs397507619GRCh37Chr 13, 32893361: 32893361
489BRCA2NM_000059.3(BRCA2): c.2224C> T (p.Gln742Ter)single nucleotide variantPathogenicrs80358494GRCh37Chr 13, 32910716: 32910716
490BRCA2NM_000059.3(BRCA2): c.2254_2257delGACT (p.Asp752Phefs)deletionPathogenicrs80359326GRCh37Chr 13, 32910746: 32910749
491BRCA2NM_000059.3(BRCA2): c.227C> G (p.Ser76Ter)single nucleotide variantPathogenicrs80358498GRCh37Chr 13, 32893373: 32893373
492BRCA2NM_000059.3(BRCA2): c.2287delC (p.His763Metfs)deletionPathogenicrs80359327GRCh37Chr 13, 32910779: 32910779
493BRCA2NM_000059.3(BRCA2): c.22_23delAG (p.Arg8Alafs)deletionPathogenicrs397507623GRCh37Chr 13, 32890619: 32890620
494BRCA2NM_000059.3(BRCA2): c.2376C> A (p.Tyr792Ter)single nucleotide variantPathogenicrs80358503GRCh37Chr 13, 32910868: 32910868
495BRCA2NM_000059.3(BRCA2): c.2435delA (p.Asn812Ilefs)deletionPathogenicrs80359329GRCh37Chr 13, 32910927: 32910927
496BRCA2NM_000059.3(BRCA2): c.2446delG (p.Glu816Lysfs)deletionPathogenicrs80359330GRCh37Chr 13, 32910938: 32910938
497BRCA2NM_000059.3(BRCA2): c.2450delA (p.Lys817Argfs)deletionPathogenicrs80359331GRCh37Chr 13, 32910942: 32910942
498BRCA2NM_000059.3(BRCA2): c.2471_2476delTAAATG (p.Leu824_Arg1160delinsTer)deletionPathogenicrs276174823GRCh37Chr 13, 32910963: 32910968
499BRCA2NM_000059.3(BRCA2): c.250C> T (p.Gln84Ter)single nucleotide variantPathogenicrs80358515GRCh37Chr 13, 32893396: 32893396
500BRCA2NM_000059.3(BRCA2): c.2517C> A (p.Tyr839Ter)single nucleotide variantPathogenicrs80358516GRCh37Chr 13, 32911009: 32911009
501BRCA2NM_000059.3(BRCA2): c.2537C> G (p.Ser846Ter)single nucleotide variantPathogenicrs80358518GRCh37Chr 13, 32911029: 32911029
502BRCA2NM_000059.3(BRCA2): c.2545delG (p.Val849Tyrfs)deletionPathogenicrs80359333GRCh37Chr 13, 32911037: 32911037
503BRCA2NM_000059.3(BRCA2): c.2564_2565delCA (p.Thr855Lysfs)deletionPathogenicrs80359334GRCh37Chr 13, 32911056: 32911057
504BRCA2NM_000059.3(BRCA2): c.2586_2592delAAATCAA (p.Asn863Lysfs)deletionPathogenicrs80359336GRCh37Chr 13, 32911078: 32911084
505BRCA2NM_000059.3(BRCA2): c.2603delC (p.Thr868Ilefs)deletionPathogenicrs276174824GRCh37Chr 13, 32911095: 32911095
506BRCA2NM_000059.3(BRCA2): c.2612C> A (p.Ser871Ter)single nucleotide variantPathogenicrs397507634GRCh37Chr 13, 32911104: 32911104
507BRCA2NM_000059.3(BRCA2): c.262_263delCT (p.Leu88Alafs)deletionPathogenicrs276174825GRCh37Chr 13, 32893408: 32893409
508BRCA2NM_000059.3(BRCA2): c.2636_2637delCT (p.Ser879Terfs)deletionPathogenicrs276174826GRCh37Chr 13, 32911128: 32911129
509BRCA2NM_000059.3(BRCA2): c.263delT (p.Leu88Argfs)deletionPathogenicrs80359339GRCh37Chr 13, 32893409: 32893409
510BRCA2NM_000059.3(BRCA2): c.2653_2656delGACA (p.Asp885Metfs)deletionPathogenicrs80359340GRCh37Chr 13, 32911145: 32911148
511BRCA2NM_000059.3(BRCA2): c.266delC (p.Pro89Argfs)deletionPathogenicrs80359341GRCh37Chr 13, 32893412: 32893412
512BRCA2NM_000059.3(BRCA2): c.2684delC (p.Ala895Valfs)deletionPathogenicrs80359342GRCh37Chr 13, 32911176: 32911176
513BRCA2NM_000059.3(BRCA2): c.26delC (p.Pro9Glnfs)deletionPathogenicrs80359343GRCh37Chr 13, 32890623: 32890623
514BRCA2NM_000059.3(BRCA2): c.2731delG (p.Glu911Lysfs)deletionPathogenicrs80359344GRCh37Chr 13, 32911223: 32911223
515BRCA2NM_000059.3(BRCA2): c.2760delC (p.Ile921Phefs)deletionPathogenicrs80359346GRCh37Chr 13, 32911252: 32911252
516BRCA2NM_000059.3(BRCA2): c.276dupA (p.Ser93Ilefs)duplicationPathogenicrs80359345GRCh37Chr 13, 32893422: 32893422
517BRCA2NM_000059.3(BRCA2): c.2786dupT (p.Leu929Phefs)duplicationPathogenicrs80359347GRCh37Chr 13, 32911278: 32911278
518BRCA2NM_000059.3(BRCA2): c.2798_2799delCA (p.Thr933Argfs)deletionPathogenicrs80359348GRCh37Chr 13, 32911290: 32911291
519BRCA2NM_000059.3(BRCA2): c.2798delC (p.Thr933Lysfs)deletionPathogenicrs80359349GRCh37Chr 13, 32911290: 32911290
520BRCA2NM_000059.3(BRCA2): c.2805_2808delTAAA (p.Ala938Profs)deletionPathogenicrs80359350GRCh37Chr 13, 32911297: 32911300
521BRCA2NM_000059.3(BRCA2): c.2810_2811delAA (p.Gln937Argfs)deletionPathogenicrs80359353GRCh37Chr 13, 32911302: 32911303
522BRCA2NM_000059.3(BRCA2): c.2812_2815delGCAA (p.Ala938Profs)deletionPathogenicrs80359354GRCh37Chr 13, 32911304: 32911307
523BRCA2NM_000059.3(BRCA2): c.2830A> T (p.Lys944Ter)single nucleotide variantPathogenicrs80358533GRCh37Chr 13, 32911322: 32911322
524BRCA2NM_000059.3(BRCA2): c.2836_2837delGA (p.Asp946Phefs)deletionPathogenicrs80359357GRCh37Chr 13, 32911328: 32911329
525BRCA2NM_000059.3(BRCA2): c.2836delG (p.Asp946Ilefs)deletionPathogenicrs80359358GRCh37Chr 13, 32911328: 32911328
526BRCA2NM_000059.3(BRCA2): c.2881C> T (p.Gln961Ter)single nucleotide variantPathogenicrs80358538GRCh37Chr 13, 32911373: 32911373
527BRCA2NM_000059.3(BRCA2): c.289G> T (p.Glu97Ter)single nucleotide variantPathogenicrs397507646GRCh37Chr 13, 32893435: 32893435
528BRCA2NM_000059.3(BRCA2): c.2957dupA (p.Asn986Lysfs)duplicationPathogenicrs80359365GRCh37Chr 13, 32911449: 32911449
529BRCA2NM_000059.3(BRCA2): c.298A> T (p.Lys100Ter)single nucleotide variantPathogenicrs80358546GRCh37Chr 13, 32893444: 32893444
530BRCA2NM_000059.3(BRCA2): c.2T> G (p.Met1Arg)single nucleotide variantPathogenicrs80358547GRCh37Chr 13, 32890599: 32890599
531BRCA2NM_000059.3(BRCA2): c.3051delC (p.Lys1018Serfs)deletionPathogenicrs80359367GRCh37Chr 13, 32911543: 32911543
532BRCA2NM_000059.3(BRCA2): c.3068dupA (p.Asn1023Lysfs)duplicationPathogenicrs80359368GRCh37Chr 13, 32911560: 32911560
533BRCA2NM_000059.3(BRCA2): c.3076A> T (p.Lys1026Ter)single nucleotide variantPathogenicrs80358552GRCh37Chr 13, 32911568: 32911568
534BRCA2NM_000059.3(BRCA2): c.3103G> T (p.Glu1035Ter)single nucleotide variantPathogenicrs80358556GRCh37Chr 13, 32911595: 32911595
535BRCA2NM_000059.3(BRCA2): c.3146delA (p.Asn1049Ilefs)deletionPathogenicrs80359370GRCh37Chr 13, 32911638: 32911638
536BRCA2NM_000059.3(BRCA2): c.314T> G (p.Leu105Ter)single nucleotide variantPathogenicrs80358561GRCh37Chr 13, 32893460: 32893460
537BRCA2NM_000059.3(BRCA2): c.316+2T> Csingle nucleotide variantLikely pathogenic, Pathogenicrs81002805GRCh37Chr 13, 32893464: 32893464
538BRCA2NM_000059.3(BRCA2): c.316+5G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs81002840GRCh37Chr 13, 32893467: 32893467
539BRCA2NM_000059.3(BRCA2): c.3166C> T (p.Gln1056Ter)single nucleotide variantPathogenicrs79728106GRCh37Chr 13, 32911658: 32911658
540BRCA2NM_000059.3(BRCA2): c.3167_3170delAAAA (p.Gln1056Argfs)deletionPathogenicrs80359372GRCh37Chr 13, 32911659: 32911662
541BRCA2NM_000059.3(BRCA2): c.3189_3192delGTCA (p.Ser1064Leufs)deletionLikely pathogenic, Pathogenicrs80359374GRCh37Chr 13, 32911681: 32911684
542BRCA2NM_000059.3(BRCA2): c.3195_3198delTAAT (p.Asn1066Leufs)deletionPathogenicrs80359375GRCh37Chr 13, 32911687: 32911690
543BRCA2NM_000059.3(BRCA2): c.3199delA (p.Thr1067Leufs)deletionPathogenicrs80359377GRCh37Chr 13, 32911691: 32911691
544BRCA2NM_000059.3(BRCA2): c.3202delG (p.Val1068Tyrfs)deletionPathogenicrs397507658GRCh37Chr 13, 32911694: 32911694
545BRCA2NM_000059.3(BRCA2): c.3228_3229delAG (p.Val1077Cysfs)deletionPathogenicrs80359378GRCh37Chr 13, 32911720: 32911721
546BRCA2NM_000059.3(BRCA2): c.3262_3263delCC (p.Pro1088Serfs)deletionPathogenicrs80359379GRCh37Chr 13, 32911754: 32911755
547BRCA2NM_000059.3(BRCA2): c.3265C> T (p.Gln1089Ter)single nucleotide variantPathogenicrs80358573GRCh37Chr 13, 32911757: 32911757
548BRCA2NM_000059.3(BRCA2): c.3269delT (p.Met1090Serfs)deletionPathogenicrs80359381GRCh37Chr 13, 32911761: 32911761
549BRCA2NM_000059.3(BRCA2): c.3273_3276delATTT (p.Leu1091Phefs)deletionPathogenicrs80359382GRCh37Chr 13, 32911765: 32911768
550BRCA2NM_000059.3(BRCA2): c.3277delT (p.Ser1093Profs)deletionPathogenicrs276174833GRCh37Chr 13, 32911769: 32911769
551BRCA2NM_000059.3(BRCA2): c.3283C> T (p.Gln1095Ter)single nucleotide variantPathogenicrs397507662GRCh37Chr 13, 32911775: 32911775
552BRCA2NM_000059.3(BRCA2): c.3294delT (p.Ser1099Glnfs)deletionPathogenicrs80359383GRCh37Chr 13, 32911786: 32911786
553BRCA2NM_000059.3(BRCA2): c.3319C> T (p.Gln1107Ter)single nucleotide variantPathogenicrs80358578GRCh37Chr 13, 32911811: 32911811
554BRCA2NM_000059.3(BRCA2): c.3354delA (p.Glu1119Lysfs)deletionPathogenicrs80359384GRCh37Chr 13, 32911846: 32911846
555BRCA2NM_000059.3(BRCA2): c.3362C> G (p.Ser1121Ter)single nucleotide variantPathogenicrs80358579GRCh37Chr 13, 32911854: 32911854
556BRCA2NM_000059.3(BRCA2): c.3381delT (p.Phe1127Leufs)deletionPathogenicrs397507666GRCh37Chr 13, 32911873: 32911873
557BRCA2NM_000059.3(BRCA2): c.3455T> G (p.Leu1152Ter)single nucleotide variantPathogenicrs80358593GRCh37Chr 13, 32911947: 32911947
558BRCA2NM_000059.3(BRCA2): c.3469G> T (p.Glu1157Ter)single nucleotide variantPathogenicrs80358595GRCh37Chr 13, 32911961: 32911961
559BRCA2NM_000059.3(BRCA2): c.3500_3501delTA (p.Ile1167Asnfs)deletionPathogenicrs80359387GRCh37Chr 13, 32911992: 32911993
560BRCA2NM_000059.3(BRCA2): c.3554_3555delCA (p.Thr1185Serfs)deletionPathogenicrs80359389GRCh37Chr 13, 32912046: 32912047
561BRCA2NM_000059.3(BRCA2): c.3570delG (p.Lys1191Serfs)deletionPathogenicrs80359390GRCh37Chr 13, 32912062: 32912062
562BRCA2NM_000059.3(BRCA2): c.3599_3600delGT (p.Cys1200Terfs)deletionPathogenicrs80359391GRCh37Chr 13, 32912091: 32912092
563BRCA2NM_000059.3(BRCA2): c.3638delA (p.Val1214Trpfs)deletionPathogenicrs80359394GRCh37Chr 13, 32912130: 32912130
564BRCA2NM_000059.3(BRCA2): c.3680_3681delTG (p.Leu1227Glnfs)deletionPathogenicrs80359395GRCh37Chr 13, 32912172: 32912173
565BRCA2NM_000059.3(BRCA2): c.3682_3685delAATG (p.Asn1228Phefs)deletionPathogenicrs80359396GRCh37Chr 13, 32912174: 32912177
566BRCA2NM_000059.3(BRCA2): c.3685delG (p.Val1229Phefs)deletionPathogenicrs80359397GRCh37Chr 13, 32912177: 32912177
567BRCA2NM_000059.3(BRCA2): c.36delT (p.Phe12Leufs)deletionPathogenicrs80359399GRCh37Chr 13, 32890633: 32890633
568BRCA2NM_000059.3(BRCA2): c.36dupT (p.Glu13Terfs)duplicationPathogenicrs80359393GRCh37Chr 13, 32890633: 32890633
569BRCA2NM_000059.3(BRCA2): c.3737delA (p.Asn1246Ilefs)deletionPathogenicrs80359402GRCh37Chr 13, 32912229: 32912229
570BRCA2NM_000059.3(BRCA2): c.3748G> T (p.Glu1250Ter)single nucleotide variantPathogenicrs80358615GRCh37Chr 13, 32912240: 32912240
571BRCA2NM_000059.3(BRCA2): c.3785C> G (p.Ser1262Ter)single nucleotide variantPathogenicrs80358620GRCh37Chr 13, 32912277: 32912277
572BRCA2NM_000059.3(BRCA2): c.37G> T (p.Glu13Ter)single nucleotide variantPathogenicrs80358622GRCh37Chr 13, 32890634: 32890634
573BRCA2NM_000059.3(BRCA2): c.3812C> A (p.Ser1271Ter)single nucleotide variantPathogenicrs80358623GRCh37Chr 13, 32912304: 32912304
574BRCA2NM_000059.3(BRCA2): c.3837delT (p.Asn1279Lysfs)deletionPathogenicrs80359404GRCh37Chr 13, 32912329: 32912329
575BRCA2NM_000059.3(BRCA2): c.3859_3860delAA (p.Asn1287Terfs)deletionPathogenicrs80359408GRCh37Chr 13, 32912351: 32912352
576BRCA2NM_000059.3(BRCA2): c.3860_3863delATAA (p.Asn1287Ilefs)deletionPathogenicrs80359410GRCh37Chr 13, 32912352: 32912355
577BRCA2NM_000059.3(BRCA2): c.3860delA (p.Asn1287Ilefs)deletionPathogenicrs80359406GRCh37Chr 13, 32912352: 32912352
578BRCA2NM_000059.3(BRCA2): c.3860dupA (p.Asn1287Lysfs)duplicationPathogenicrs80359409GRCh37Chr 13, 32912352: 32912352
579BRCA2NM_000059.3(BRCA2): c.3871C> T (p.Gln1291Ter)single nucleotide variantLikely pathogenic, Pathogenicrs80358631GRCh37Chr 13, 32912363: 32912363
580BRCA2NM_000059.3(BRCA2): c.3881T> A (p.Leu1294Ter)single nucleotide variantPathogenicrs80358632GRCh37Chr 13, 32912373: 32912373
581BRCA2NM_000059.3(BRCA2): c.3911delC (p.Thr1304Ilefs)deletionPathogenicrs80359415GRCh37Chr 13, 32912403: 32912403
582BRCA2NM_000059.3(BRCA2): c.3915delT (p.Phe1305Leufs)deletionPathogenicrs397507698GRCh37Chr 13, 32912407: 32912407
583BRCA2NM_000059.3(BRCA2): c.3919delG (p.Glu1307Lysfs)deletionPathogenicrs80359416GRCh37Chr 13, 32912411: 32912411
584BRCA2NM_000059.3(BRCA2): c.3939C> A (p.Tyr1313Ter)single nucleotide variantPathogenicrs80358641GRCh37Chr 13, 32912431: 32912431
585BRCA2NM_000059.3(BRCA2): c.3939delC (p.Tyr1313Terfs)deletionPathogenicrs276174838GRCh37Chr 13, 32912431: 32912431
586BRCA2NM_000059.3(BRCA2): c.3956_3959delATGA (p.Asn1319Lysfs)deletionPathogenicrs80359417GRCh37Chr 13, 32912448: 32912451
587BRCA2NM_000059.3(BRCA2): c.3958G> T (p.Glu1320Ter)single nucleotide variantPathogenicrs80358644GRCh37Chr 13, 32912450: 32912450
588BRCA2NM_000059.3(BRCA2): c.3967A> T (p.Lys1323Ter)single nucleotide variantPathogenicrs80358648GRCh37Chr 13, 32912459: 32912459
589BRCA2NM_000059.3(BRCA2): c.3975_3978dupTGCT (p.Ala1327Cysfs)duplicationLikely pathogenic, Pathogenicrs397515636GRCh37Chr 13, 32912467: 32912470
590BRCA2NM_000059.3(BRCA2): c.3G> A (p.Met1Ile)single nucleotide variantPathogenicrs80358650GRCh37Chr 13, 32890600: 32890600
591BRCA2NM_000059.3(BRCA2): c.4001T> A (p.Leu1334Ter)single nucleotide variantPathogenicrs80358652GRCh37Chr 13, 32912493: 32912493
592BRCA2NM_000059.3(BRCA2): c.4037_4038delCT (p.Thr1346Serfs)deletionPathogenicrs80359421GRCh37Chr 13, 32912529: 32912530
593BRCA2NM_000059.3(BRCA2): c.4048_4051delCATA (p.His1350Lysfs)deletionPathogenicrs80359423GRCh37Chr 13, 32912540: 32912543
594BRCA2NM_000059.3(BRCA2): c.4076delC (p.Thr1359Metfs)deletionPathogenicrs80359424GRCh37Chr 13, 32912568: 32912568
595BRCA2NM_000059.3(BRCA2): c.4095T> A (p.Cys1365Ter)single nucleotide variantPathogenicrs80358658GRCh37Chr 13, 32912587: 32912587
596BRCA2NM_000059.3(BRCA2): c.410delC (p.Ser137Phefs)deletionPathogenicrs80359427GRCh37Chr 13, 32899306: 32899306
597BRCA2NM_000059.3(BRCA2): c.4111C> T (p.Gln1371Ter)single nucleotide variantPathogenicrs80358659GRCh37Chr 13, 32912603: 32912603
598BRCA2NM_000059.3(BRCA2): c.4130delA (p.Asn1377Thrfs)deletionPathogenicrs80359428GRCh37Chr 13, 32912622: 32912622
599BRCA2NM_000059.3(BRCA2): c.4133_4136delCTCA (p.Thr1378Argfs)deletionPathogenicrs80359430GRCh37Chr 13, 32912625: 32912628
600BRCA2NM_000059.3(BRCA2): c.4137_4141delGATTA (p.Ile1380Argfs)deletionPathogenicrs80359431GRCh37Chr 13, 32912629: 32912633
601BRCA2NM_000059.3(BRCA2): c.4139_4140dupTT (p.Lys1381Leufs)duplicationPathogenicrs276174842GRCh37Chr 13, 32912631: 32912632
602BRCA2NM_000059.3(BRCA2): c.4169delT (p.Leu1390Trpfs)deletionPathogenicrs80359433GRCh37Chr 13, 32912661: 32912661
603BRCA2NM_000059.3(BRCA2): c.4188delA (p.Glu1397Lysfs)deletionPathogenicrs80359434GRCh37Chr 13, 32912680: 32912680
604BRCA2NM_000059.3(BRCA2): c.4218_4221delAGAA (p.Lys1406Asnfs)deletionPathogenicrs80359435GRCh37Chr 13, 32912710: 32912713
605BRCA2NM_000059.3(BRCA2): c.4258delG (p.Asp1420Ilefs)deletionLikely pathogenic, Pathogenicrs80359436GRCh37Chr 13, 32912750: 32912750
606BRCA2NM_000059.3(BRCA2): c.4271delC (p.Ser1424Leufs)deletionPathogenicrs80359437GRCh37Chr 13, 32912763: 32912763
607BRCA2NM_000059.3(BRCA2): c.4285C> T (p.Gln1429Ter)single nucleotide variantPathogenicrs80358665GRCh37Chr 13, 32912777: 32912777
608BRCA2NM_000059.3(BRCA2): c.4314delC (p.Ala1439Profs)deletionPathogenicrs80359441GRCh37Chr 13, 32912806: 32912806
609BRCA2NM_000059.3(BRCA2): c.4325C> A (p.Ser1442Ter)single nucleotide variantPathogenicrs80358670GRCh37Chr 13, 32912817: 32912817
610BRCA2NM_000059.3(BRCA2): c.4339delG (p.Val1447Terfs)deletionPathogenicrs80359443GRCh37Chr 13, 32912831: 32912831
611BRCA2NM_000059.3(BRCA2): c.4380_4381delTT (p.Ser1461Leufs)deletionPathogenicrs397507715GRCh37Chr 13, 32912872: 32912873
612BRCA2NM_000059.3(BRCA2): c.4398_4402delACATT (p.Leu1466Phefs)deletionPathogenicrs80359444GRCh37Chr 13, 32912890: 32912894
613BRCA2NM_000059.3(BRCA2): c.4409_4410delTA (p.Ile1470Lysfs)deletionPathogenicrs80359446GRCh37Chr 13, 32912901: 32912902
614BRCA2NM_000059.3(BRCA2): c.4409_4413delTAAGA (p.Ile1470Lysfs)deletionPathogenicrs397507718GRCh37Chr 13, 32912901: 32912905
615BRCA2NM_000059.3(BRCA2): c.4423delA (p.Met1475Trpfs)deletionPathogenicrs80359447GRCh37Chr 13, 32912915: 32912915
616BRCA2NM_000059.3(BRCA2): c.4440T> G (p.Tyr1480Ter)single nucleotide variantPathogenicrs397507719GRCh37Chr 13, 32912932: 32912932
617BRCA2NM_000059.3(BRCA2): c.4456_4459delGTTA (p.Val1486Asnfs)deletionPathogenicrs80359449GRCh37Chr 13, 32912948: 32912951
618BRCA2NM_000059.3(BRCA2): c.4471_4474delCTGA (p.Leu1491Lysfs)deletionPathogenicrs80359451GRCh37Chr 13, 32912963: 32912966
619BRCA2NM_000059.3(BRCA2): c.4478_4481delAAAG (p.Glu1493Valfs)deletionPathogenicrs80359454GRCh37Chr 13, 32912970: 32912973
620BRCA2NM_000059.3(BRCA2): c.4480dupA (p.Ser1494Lysfs)duplicationPathogenicrs80359453GRCh37Chr 13, 32912972: 32912972
621BRCA2NM_000059.3(BRCA2): c.4525C> T (p.Gln1509Ter)single nucleotide variantPathogenicrs80358683GRCh37Chr 13, 32913017: 32913017
622BRCA2NM_000059.3(BRCA2): c.4546dupA (p.Ile1516Asnfs)duplicationPathogenicrs80359456GRCh37Chr 13, 32913038: 32913038
623BRCA2NM_000059.3(BRCA2): c.4551_4554delAGAA (p.Lys1517Asnfs)deletionPathogenicrs80359457GRCh37Chr 13, 32913043: 32913046
624BRCA2NM_000059.3(BRCA2): c.4554delA (p.Glu1518Aspfs)deletionPathogenicrs80359458GRCh37Chr 13, 32913046: 32913046
625BRCA2NM_000059.3(BRCA2): c.4588A> T (p.Lys1530Ter)single nucleotide variantPathogenicrs80358692GRCh37Chr 13, 32913080: 32913080
626BRCA2NM_000059.3(BRCA2): c.4593dupA (p.Val1532Serfs)duplicationPathogenicrs397507732GRCh37Chr 13, 32913085: 32913085
627BRCA2NM_000059.3(BRCA2): c.462_463delAA (p.Asp156Terfs)deletionPathogenicrs80359459GRCh37Chr 13, 32900274: 32900275
628BRCA2NM_000059.3(BRCA2): c.4647_4650delAGAG (p.Lys1549Asnfs)deletionPathogenicrs397507734GRCh37Chr 13, 32913139: 32913142
629BRCA2NM_000059.3(BRCA2): c.469_470delAA (p.Lys157Valfs)deletionPathogenicrs397507739GRCh37Chr 13, 32900281: 32900282
630BRCA2NM_000059.3(BRCA2): c.470_474delAGTCA (p.Lys157Serfs)deletionPathogenicrs80359463GRCh37Chr 13, 32900282: 32900286
631BRCA2NM_000059.3(BRCA2): c.4731_4736delATTAGCinsG (p.Leu1578Metfs)indelPathogenicrs276174846GRCh37Chr 13, 32913223: 32913228
632BRCA2NM_000059.3(BRCA2): c.4742_4743insTG (p.Glu1581Aspfs)insertionPathogenicrs276174847GRCh37Chr 13, 32913234: 32913235
633BRCA2NM_000059.3(BRCA2): c.475+1G> Asingle nucleotide variantPathogenicrs81002797GRCh37Chr 13, 32900288: 32900288
634BRCA2NM_000059.3(BRCA2): c.475+1G> Tsingle nucleotide variantLikely pathogenic, Pathogenicrs81002797GRCh37Chr 13, 32900288: 32900288
635BRCA2NM_000059.3(BRCA2): c.475G> A (p.Val159Met)single nucleotide variantLikely pathogenic, Pathogenicrs80358702GRCh37Chr 13, 32900287: 32900287
636BRCA2NM_000059.3(BRCA2): c.4797delT (p.Asn1599Lysfs)deletionPathogenicrs80359465GRCh37Chr 13, 32913289: 32913289
637BRCA2NM_000059.3(BRCA2): c.4808dupA (p.Asn1603Lysfs)duplicationPathogenicrs80359466GRCh37Chr 13, 32913300: 32913300
638BRCA2NM_000059.3(BRCA2): c.4829_4830delTG (p.Val1610Glyfs)deletionPathogenicrs80359468GRCh37Chr 13, 32913321: 32913322
639BRCA2NM_000059.3(BRCA2): c.4845_4846delCT (p.Leu1616Lysfs)deletionPathogenicrs80359469GRCh37Chr 13, 32913337: 32913338
640BRCA2NM_000059.3(BRCA2): c.4859T> G (p.Leu1620Ter)single nucleotide variantPathogenicrs80358710GRCh37Chr 13, 32913351: 32913351
641BRCA2NM_000059.3(BRCA2): c.4889C> G (p.Ser1630Ter)single nucleotide variantPathogenicrs80358711GRCh37Chr 13, 32913381: 32913381
642BRCA2NM_000059.3(BRCA2): c.491T> A (p.Leu164Ter)single nucleotide variantPathogenicrs80358717GRCh37Chr 13, 32900394: 32900394
643BRCA2NM_000059.3(BRCA2): c.4933A> T (p.Lys1645Ter)single nucleotide variantPathogenicrs80358719GRCh37Chr 13, 32913425: 32913425
644BRCA2NM_000059.3(BRCA2): c.4935delA (p.Glu1646Lysfs)deletionPathogenicrs80359472GRCh37Chr 13, 32913427: 32913427
645BRCA2NM_000059.3(BRCA2): c.4940_4941delCA (p.Thr1647Serfs)deletionPathogenicrs397507751GRCh37Chr 13, 32913432: 32913433
646BRCA2NM_000059.3(BRCA2): c.4947_4948delAA (p.Pro1651Cysfs)deletionPathogenicrs80359474GRCh37Chr 13, 32913439: 32913440
647BRCA2NM_000059.3(BRCA2): c.4965C> A (p.Tyr1655Ter)single nucleotide variantPathogenicrs80358721GRCh37Chr 13, 32913457: 32913457
648BRCA2NM_000059.3(BRCA2): c.4965delC (p.Tyr1655Terfs)deletionPathogenicrs80359475GRCh37Chr 13, 32913457: 32913457
649BRCA2NM_000059.3(BRCA2): c.5065_5066delGCinsAAA (p.Ala1689Lysfs)indelPathogenicrs276174852GRCh37Chr 13, 32913557: 32913558
650BRCA2NM_000059.3(BRCA2): c.5073delA (p.Lys1691Asnfs)deletionPathogenicrs80359481GRCh37Chr 13, 32913565: 32913565
651BRCA2NM_000059.3(BRCA2): c.5107G> T (p.Glu1703Ter)single nucleotide variantPathogenicrs80358735GRCh37Chr 13, 32913599: 32913599
652BRCA2NM_000059.3(BRCA2): c.5116_5119delAATA (p.Asn1706Leufs)deletionPathogenicrs276174853GRCh37Chr 13, 32913608: 32913611
653BRCA2NM_000059.3(BRCA2): c.5130_5133delTGTA (p.Tyr1710Terfs)deletionPathogenicrs80359484GRCh37Chr 13, 32913622: 32913625
654BRCA2NM_000059.3(BRCA2): c.5131_5134delGTAG (p.Val1711Glufs)deletionPathogenicrs80359486GRCh37Chr 13, 32913623: 32913626
655BRCA2NM_000059.3(BRCA2): c.5141_5144delATTT (p.Tyr1714Cysfs)deletionPathogenicrs80359487GRCh37Chr 13, 32913633: 32913636
656BRCA2NM_000059.3(BRCA2): c.5146_5149delTATG (p.Tyr1716Lysfs)deletionPathogenicrs276174854GRCh37Chr 13, 32913638: 32913641
657BRCA2NM_000059.3(BRCA2): c.5157_5161delTTCAA (p.Asn1719Lysfs)deletionPathogenicrs80359488GRCh37Chr 13, 32913649: 32913653
658BRCA2NM_000059.3(BRCA2): c.5158dupT (p.Ser1720Phefs)duplicationPathogenicrs80359489GRCh37Chr 13, 32913650: 32913650
659BRCA2NM_000059.3(BRCA2): c.5159C> G (p.Ser1720Ter)single nucleotide variantPathogenicrs80358740GRCh37Chr 13, 32913651: 32913651
660BRCA2NM_000059.3(BRCA2): c.5164_5165delAG (p.Ser1722Tyrfs)deletionPathogenicrs80359490GRCh37Chr 13, 32913656: 32913657
661BRCA2NM_000059.3(BRCA2): c.517-1G> Asingle nucleotide variantPathogenicrs81002849GRCh37Chr 13, 32900635: 32900635
662BRCA2NM_000059.3(BRCA2): c.517-2A> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs81002858GRCh37Chr 13, 32900634: 32900634
663BRCA2NM_000059.3(BRCA2): c.5180delA (p.Asn1727Metfs)deletionPathogenicrs80359491GRCh37Chr 13, 32913672: 32913672
664BRCA2NM_000059.3(BRCA2): c.51_52delAC (p.Arg18Leufs)deletionPathogenicrs80359483GRCh37Chr 13, 32890648: 32890649
665BRCA2NM_000059.3(BRCA2): c.5217T> A (p.Tyr1739Ter)single nucleotide variantPathogenicrs80358746GRCh37Chr 13, 32913709: 32913709
666BRCA2NM_000059.3(BRCA2): c.5217_5220delTTTA (p.Tyr1739Terfs)deletionPathogenicrs80359494GRCh37Chr 13, 32913709: 32913712
667BRCA2NM_000059.3(BRCA2): c.5217_5221delTTTAA (p.Tyr1739Terfs)deletionPathogenicrs80359495GRCh37Chr 13, 32913709: 32913713
668BRCA2NM_000059.3(BRCA2): c.5217_5223delTTTAAGT (p.Tyr1739Terfs)deletionPathogenicrs80359496GRCh37Chr 13, 32913709: 32913715
669BRCA2NM_000059.3(BRCA2): c.5217_5224delTTTAAGTA (p.Tyr1739Terfs)deletionPathogenicrs80359497GRCh37Chr 13, 32913709: 32913716
670BRCA2NM_000059.3(BRCA2): c.5279C> G (p.Ser1760Ter)single nucleotide variantPathogenicrs80358751GRCh37Chr 13, 32913771: 32913771
671BRCA2NM_000059.3(BRCA2): c.5286T> A (p.Tyr1762Ter)single nucleotide variantPathogenicrs80358754GRCh37Chr 13, 32913778: 32913778
672BRCA2NM_000059.3(BRCA2): c.5344C> T (p.Gln1782Ter)single nucleotide variantPathogenicrs80358757GRCh37Chr 13, 32913836: 32913836
673BRCA2NM_000059.3(BRCA2): c.5344_5345delCA (p.Gln1782Lysfs)deletionPathogenicrs80359506GRCh37Chr 13, 32913836: 32913837
674BRCA2NM_000059.3(BRCA2): c.538_539delAT (p.Ile180Phefs)deletionPathogenicrs80359510GRCh37Chr 13, 32900657: 32900658
675BRCA2NM_000059.3(BRCA2): c.538_539dupAT (p.Ser181Phefs)duplicationPathogenicrs80359511GRCh37Chr 13, 32900657: 32900658
676BRCA2NM_000059.3(BRCA2): c.539delT (p.Ser181Leufs)deletionPathogenicrs276174857GRCh37Chr 13, 32900658: 32900658
677BRCA2NM_000059.3(BRCA2): c.5404C> T (p.Gln1802Ter)single nucleotide variantPathogenicrs80358763GRCh37Chr 13, 32913896: 32913896
678BRCA2NM_000059.3(BRCA2): c.5428G> A (p.Val1810Ile)single nucleotide variantPathogenicrs80358766GRCh37Chr 13, 32913920: 32913920
679BRCA2NM_000059.3(BRCA2): c.5434G> T (p.Glu1812Ter)single nucleotide variantPathogenicrs80358767GRCh37Chr 13, 32913926: 32913926
680BRCA2NM_000059.3(BRCA2): c.5454delA (p.Cys1820Alafs)deletionPathogenicrs80359513GRCh37Chr 13, 32913946: 32913946
681BRCA2NM_000059.3(BRCA2): c.5466dupT (p.Lys1823Terfs)duplicationPathogenicrs80359514GRCh37Chr 13, 32913958: 32913958
682BRCA2NM_000059.3(BRCA2): c.5526delT (p.Ala1843Hisfs)deletionPathogenicrs80359518GRCh37Chr 13, 32914018: 32914018
683BRCA2NM_000059.3(BRCA2): c.5542delA (p.Ser1848Valfs)deletionPathogenicrs80359519GRCh37Chr 13, 32914034: 32914034
684BRCA2NM_000059.3(BRCA2): c.5569G> T (p.Glu1857Ter)single nucleotide variantPathogenicrs80358778GRCh37Chr 13, 32914061: 32914061
685BRCA2NM_000059.3(BRCA2): c.5569_5573delGAAAC (p.Glu1857Asnfs)deletionPathogenicrs397507788GRCh37Chr 13, 32914061: 32914065
686BRCA2NM_000059.3(BRCA2): c.5577_5580delTAAA (p.Lys1861Terfs)deletionPathogenicrs80359522GRCh37Chr 13, 32914069: 32914072
687BRCA2NM_000059.3(BRCA2): c.5585_5588delTGAA (p.Val1862Glufs)deletionPathogenicrs80359523GRCh37Chr 13, 32914077: 32914080
688BRCA2NM_000059.3(BRCA2): c.5609_5610delTCinsAG (p.Phe1870Ter)indelPathogenicrs276174859GRCh37Chr 13, 32914101: 32914102
689BRCA2NM_000059.3(BRCA2): c.5616_5620delAGTAA (p.Lys1872Asnfs)deletionPathogenicrs80359525GRCh37Chr 13, 32914108: 32914112
690BRCA2NM_000059.3(BRCA2): c.5641_5644delAAAT (p.Lys1881Glnfs)deletionPathogenicrs276174860GRCh37Chr 13, 32914133: 32914136
691BRCA2NM_000059.3(BRCA2): c.5656C> T (p.Gln1886Ter)single nucleotide variantPathogenicrs80358790GRCh37Chr 13, 32914148: 32914148
692BRCA2NM_000059.3(BRCA2): c.5702_5703delAG (p.Glu1901Glyfs)deletionPathogenicrs80359528GRCh37Chr 13, 32914194: 32914195
693BRCA2NM_000059.3(BRCA2): c.5717_5718delAC (p.Asn1906Ilefs)deletionPathogenicrs80359529GRCh37Chr 13, 32914209: 32914210
694BRCA2NM_000059.3(BRCA2): c.5718_5721delCTCT (p.Ser1907Terfs)deletionPathogenicrs276174862GRCh37Chr 13, 32914210: 32914213
695BRCA2NM_000059.3(BRCA2): c.5724delA (p.Asp1909Ilefs)deletionPathogenicrs80359532GRCh37Chr 13, 32914216: 32914216
696BRCA2NM_000059.3(BRCA2): c.5763dupT (p.Ala1922Cysfs)duplicationPathogenicrs80359534GRCh37Chr 13, 32914255: 32914255
697BRCA2NM_000059.3(BRCA2): c.5771_5774delTTCA (p.Ile1924Argfs)deletionPathogenicrs80359535GRCh37Chr 13, 32914263: 32914266
698BRCA2NM_000059.3(BRCA2): c.5773C> T (p.Gln1925Ter)single nucleotide variantPathogenicrs80358806GRCh37Chr 13, 32914265: 32914265
699BRCA2NM_000059.3(BRCA2): c.5778_5779delTG (p.Ser1926Argfs)deletionPathogenicrs80359536GRCh37Chr 13, 32914270: 32914271
700BRCA2NM_000059.3(BRCA2): c.5791C> T (p.Gln1931Ter)single nucleotide variantPathogenicrs80358807GRCh37Chr 13, 32914283: 32914283
701BRCA2NM_000059.3(BRCA2): c.5796_5797delTA (p.His1932Glnfs)deletionPathogenicrs80359537GRCh37Chr 13, 32914288: 32914289
702BRCA2NM_000059.3(BRCA2): c.581G> A (p.Trp194Ter)single nucleotide variantPathogenicrs80358809GRCh37Chr 13, 32900700: 32900700
703BRCA2NM_000059.3(BRCA2): c.5820_5833delGAAAGTTTCTAAAA (p.Glu1940Aspfs)deletionPathogenicrs80359539GRCh37Chr 13, 32914312: 32914325
704BRCA2NM_000059.3(BRCA2): c.5823delA (p.Val1942Phefs)deletionPathogenicrs80359540GRCh37Chr 13, 32914315: 32914315
705BRCA2NM_000059.3(BRCA2): c.5836_5837insA (p.Ser1946Tyrfs)insertionPathogenicrs80359542GRCh37Chr 13, 32914328: 32914329
706BRCA2NM_000059.3(BRCA2): c.5857G> T (p.Glu1953Ter)single nucleotide variantPathogenicrs80358814GRCh37Chr 13, 32914349: 32914349
707BRCA2NM_000059.3(BRCA2): c.5857delG (p.Glu1953Lysfs)deletionPathogenicrs80359545GRCh37Chr 13, 32914349: 32914349
708BRCA2NM_000059.3(BRCA2): c.5864C> A (p.Ser1955Ter)single nucleotide variantPathogenicrs80358815GRCh37Chr 13, 32914356: 32914356
709BRCA2NM_000059.3(BRCA2): c.5890delA (p.Lys1964Serfs)deletionPathogenicrs276174864GRCh37Chr 13, 32914382: 32914382
710BRCA2NM_000059.3(BRCA2): c.5904_5907delAGTC (p.Val1969Hisfs)deletionPathogenicrs80359547GRCh37Chr 13, 32914396: 32914399
711BRCA2NM_000059.3(BRCA2): c.5925T> A (p.Cys1975Ter)single nucleotide variantPathogenicrs80358825GRCh37Chr 13, 32914417: 32914417
712BRCA2NM_000059.3(BRCA2): c.5946_5949delTGGA (p.Ser1982Argfs)deletionPathogenicrs80359549GRCh37Chr 13, 32914438: 32914441
713BRCA2NM_000059.3(BRCA2): c.5952dupA (p.Ser1985Ilefs)duplicationPathogenicrs397507814GRCh37Chr 13, 32914444: 32914444
714BRCA2NM_000059.3(BRCA2): c.5954_5955delCT (p.Ser1985Cysfs)deletionPathogenicrs80359551GRCh37Chr 13, 32914446: 32914447
715BRCA2NM_000059.3(BRCA2): c.5959C> T (p.Gln1987Ter)single nucleotide variantPathogenicrs80358828GRCh37Chr 13, 32914451: 32914451
716BRCA2NM_000059.3(BRCA2): c.5967dupA (p.Asp1990Argfs)duplicationPathogenicrs276174865GRCh37Chr 13, 32914459: 32914459
717BRCA2NM_000059.3(BRCA2): c.5968_5969delGA (p.Asp1990Cysfs)deletionPathogenicrs80359552GRCh37Chr 13, 32914460: 32914461
718BRCA2NM_000059.3(BRCA2): c.6001delT (p.Ser2001Leufs)deletionPathogenicrs80359553GRCh37Chr 13, 32914493: 32914493
719BRCA2NM_000059.3(BRCA2): c.6025C> T (p.Gln2009Ter)single nucleotide variantPathogenicrs80358838GRCh37Chr 13, 32914517: 32914517
720BRCA2NM_000059.3(BRCA2): c.6065C> G (p.Ser2022Ter)single nucleotide variantPathogenicrs80358843GRCh37Chr 13, 32914557: 32914557
721BRCA2NM_000059.3(BRCA2): c.6068_6072delACCAG (p.Asp2023Alafs)deletionPathogenicrs80359555GRCh37Chr 13, 32914560: 32914564
722BRCA2NM_000059.3(BRCA2): c.6070C> T (p.Gln2024Ter)single nucleotide variantPathogenicrs80358844GRCh37Chr 13, 32914562: 32914562
723BRCA2NM_000059.3(BRCA2): c.6071delA (p.Gln2024Argfs)deletionPathogenicrs80359556GRCh37Chr 13, 32914563: 32914563
724BRCA2NM_000059.3(BRCA2): c.6078_6079delAA (p.Glu2028Argfs)deletionPathogenicrs80359557GRCh37Chr 13, 32914570: 32914571
725BRCA2NM_000059.3(BRCA2): c.6079dupA (p.Arg2027Lysfs)duplicationPathogenicrs397507826GRCh37Chr 13, 32914571: 32914571
726BRCA2NM_000059.3(BRCA2): c.6082_6086delGAAGA (p.Glu2028Lysfs)deletionPathogenicrs80359558GRCh37Chr 13, 32914574: 32914578
727BRCA2NM_000059.3(BRCA2): c.6103delA (p.Thr2035Leufs)deletionPathogenicrs80359559GRCh37Chr 13, 32914595: 32914595
728BRCA2NM_000059.3(BRCA2): c.610delC (p.Ser205Valfs)deletionPathogenicrs80359560GRCh37Chr 13, 32900729: 32900729
729BRCA2NM_000059.3(BRCA2): c.6124C> T (p.Gln2042Ter)single nucleotide variantPathogenicrs80358851GRCh37Chr 13, 32914616: 32914616
730BRCA2NM_000059.3(BRCA2): c.6129dupA (p.Gly2044Argfs)duplicationPathogenicrs80359561GRCh37Chr 13, 32914621: 32914621
731BRCA2NM_000059.3(BRCA2): c.6154delT (p.Ser2052Hisfs)deletionPathogenicrs80359562GRCh37Chr 13, 32914646: 32914646
732BRCA2NM_000059.3(BRCA2): c.6164delT (p.Phe2055Serfs)deletionPathogenicrs397507831GRCh37Chr 13, 32914656: 32914656
733BRCA2NM_000059.3(BRCA2): c.6169G> T (p.Gly2057Ter)single nucleotide variantPathogenicrs80358856GRCh37Chr 13, 32914661: 32914661
734BRCA2NM_000059.3(BRCA2): c.6178delA (p.Thr2060Glnfs)deletionPathogenicrs80359563GRCh37Chr 13, 32914670: 32914670
735BRCA2NM_000059.3(BRCA2): c.6198_6199delTT (p.Ser2067Hisfs)deletionPathogenicrs80359564GRCh37Chr 13, 32914690: 32914691
736BRCA2NM_000059.3(BRCA2): c.6201delC (p.Ile2068Phefs)deletionPathogenicrs80359565GRCh37Chr 13, 32914693: 32914693
737BRCA2NM_000059.3(BRCA2): c.6202dupA (p.Ile2068Asnfs)duplicationPathogenicrs397507833GRCh37Chr 13, 32914694: 32914694
738BRCA2NM_000059.3(BRCA2): c.6209_6212delAAAG (p.Glu2070Valfs)deletionPathogenicrs276174866GRCh37Chr 13, 32914701: 32914704
739BRCA2NM_000059.3(BRCA2): c.6216delC (p.Leu2073Tyrfs)deletionPathogenicrs80359567GRCh37Chr 13, 32914708: 32914708
740BRCA2NM_000059.3(BRCA2): c.6220_6222delCACinsAA (p.His2074Lysfs)indelPathogenicrs276174867GRCh37Chr 13, 32914712: 32914714
741BRCA2NM_000059.3(BRCA2): c.6238delT (p.Leu2080Terfs)deletionPathogenicrs80359569GRCh37Chr 13, 32914730: 32914730
742BRCA2NM_000059.3(BRCA2): c.6239T> G (p.Leu2080Ter)single nucleotide variantPathogenicrs80358864GRCh37Chr 13, 32914731: 32914731
743BRCA2NM_000059.3(BRCA2): c.6240dupA (p.Glu2081Argfs)duplicationPathogenicrs80359570GRCh37Chr 13, 32914732: 32914732
744BRCA2NM_000059.3(BRCA2): c.6270_6271delTA (p.His2090Glnfs)deletionPathogenicrs80359571GRCh37Chr 13, 32914762: 32914763
745BRCA2NM_000059.3(BRCA2): c.6280_6286delTATTCAC (p.Tyr2094Leufs)deletionPathogenicrs80359572GRCh37Chr 13, 32914772: 32914778
746BRCA2NM_000059.3(BRCA2): c.6282_6289delTTCACCTA (p.Ser2095Valfs)deletionPathogenicrs80359573GRCh37Chr 13, 32914774: 32914781
747BRCA2NM_000059.3(BRCA2): c.6308C> A (p.Ser2103Ter)single nucleotide variantPathogenicrs80358870GRCh37Chr 13, 32914800: 32914800
748BRCA2NM_000059.3(BRCA2): c.631G> A (p.Val211Ile)single nucleotide variantPathogenicrs80358871GRCh37Chr 13, 32900750: 32900750
749BRCA2NM_000059.3(BRCA2): c.632-1G> Csingle nucleotide variantPathogenicrs81002820GRCh37Chr 13, 32903579: 32903579
750BRCA2NM_000059.3(BRCA2): c.6325_6326delGT (p.Val2109Terfs)deletionPathogenicrs276174871GRCh37Chr 13, 32914817: 32914818
751BRCA2NM_000059.3(BRCA2): c.6335_6336delGA (p.Arg2112Lysfs)deletionPathogenicrs80359574GRCh37Chr 13, 32914827: 32914828
752BRCA2NM_000059.3(BRCA2): c.6352_6353delGT (p.Val2118Lysfs)deletionPathogenicrs80359576GRCh37Chr 13, 32914844: 32914845
753BRCA2NM_000059.3(BRCA2): c.6373delA (p.Thr2125Profs)deletionPathogenicrs80359578GRCh37Chr 13, 32914865: 32914865
754BRCA2NM_000059.3(BRCA2): c.6382A> T (p.Lys2128Ter)single nucleotide variantPathogenicrs80358875GRCh37Chr 13, 32914874: 32914874
755BRCA2NM_000059.3(BRCA2): c.6393_6396delATTA (p.Lys2131Asnfs)deletionPathogenicrs397507849GRCh37Chr 13, 32914885: 32914888
756BRCA2NM_000059.3(BRCA2): c.63delA (p.Ala22Glnfs)deletionPathogenicrs80359582GRCh37Chr 13, 32890660: 32890660
757BRCA2NM_000059.3(BRCA2): c.6401_6404delATAA (p.Asn2134Thrfs)deletionPathogenicrs80359583GRCh37Chr 13, 32914893: 32914896
758BRCA2NM_000059.3(BRCA2): c.6407_6411delTAAAT (p.Leu2136Cysfs)deletionPathogenicrs80359586GRCh37Chr 13, 32914899: 32914903
759BRCA2NM_000059.3(BRCA2): c.6431delA (p.Asn2145Ilefs)deletionPathogenicrs80359587GRCh37Chr 13, 32914923: 32914923
760BRCA2NM_000059.3(BRCA2): c.6443_6444delCT (p.Ser2148Tyrfs)deletionPathogenicrs80359589GRCh37Chr 13, 32914935: 32914936
761BRCA2NM_000059.3(BRCA2): c.6444_6447delTATT (p.Ile2149Lysfs)deletionPathogenicrs80359591GRCh37Chr 13, 32914936: 32914939
762BRCA2NM_000059.3(BRCA2): c.6445_6446delAT (p.Ile2149Terfs)deletionPathogenicrs80359592GRCh37Chr 13, 32914937: 32914938
763BRCA2NM_000059.3(BRCA2): c.6446_6450delTTAAA (p.Ile2149Serfs)deletionPathogenicrs80359593GRCh37Chr 13, 32914938: 32914942
764BRCA2NM_000059.3(BRCA2): c.6447_6448dupTA (p.Lys2150Ilefs)duplicationPathogenicrs397507858GRCh37Chr 13, 32914939: 32914940
765BRCA2NM_000059.3(BRCA2): c.6449_6450delAA (p.Lys2150Serfs)deletionPathogenicrs80359594GRCh37Chr 13, 32914941: 32914942
766BRCA2NM_000059.3(BRCA2): c.6450dupA (p.Val2151Serfs)duplicationPathogenicrs80359595GRCh37Chr 13, 32914942: 32914942
767BRCA2NM_000059.3(BRCA2): c.6462T> G (p.Tyr2154Ter)single nucleotide variantPathogenicrs80358883GRCh37Chr 13, 32914954: 32914954
768BRCA2NM_000059.3(BRCA2): c.6490delC (p.Gln2164Serfs)deletionPathogenicrs80359599GRCh37Chr 13, 32914982: 32914982
769BRCA2NM_000059.3(BRCA2): c.6494delT (p.Leu2165Trpfs)deletionPathogenicrs276174874GRCh37Chr 13, 32914986: 32914986
770BRCA2NM_000059.3(BRCA2): c.6509_6510delAA (p.Lys2170Serfs)deletionPathogenicrs80359600GRCh37Chr 13, 32915001: 32915002
771BRCA2NM_000059.3(BRCA2): c.652G> T (p.Glu218Ter)single nucleotide variantPathogenicrs80358884GRCh37Chr 13, 32903600: 32903600
772BRCA2NM_000059.3(BRCA2): c.6553delG (p.Ala2185Leufs)deletionPathogenicrs80359603GRCh37Chr 13, 32915045: 32915045
773BRCA2NM_000059.3(BRCA2): c.6600_6601delTT (p.Ser2201Terfs)deletionPathogenicrs80359607GRCh37Chr 13, 32915092: 32915093
774BRCA2NM_000059.3(BRCA2): c.6603_6604delTG (p.Asp2202Cysfs)deletionPathogenicrs80359608GRCh37Chr 13, 32915095: 32915096
775BRCA2NM_000059.3(BRCA2): c.6626_6627delTA (p.Ile2209Argfs)deletionPathogenicrs80359610GRCh37Chr 13, 32915118: 32915119
776BRCA2NM_000059.3(BRCA2): c.6629_6630delAA (p.Glu2210Glyfs)deletionPathogenicrs80359611GRCh37Chr 13, 32915121: 32915122
777BRCA2NM_000059.3(BRCA2): c.662_663delTT (p.Phe221Serfs)deletionPathogenicrs80359609GRCh37Chr 13, 32903610: 32903611
778BRCA2NM_000059.3(BRCA2): c.6638delC (p.Ser2213Leufs)deletionPathogenicrs80359612GRCh37Chr 13, 32915130: 32915130
779BRCA2NM_000059.3(BRCA2): c.6643delT (p.Tyr2215Thrfs)deletionLikely pathogenic, Pathogenicrs80359614GRCh37Chr 13, 32915135: 32915135
780BRCA2NM_000059.3(BRCA2): c.6644dupA (p.Tyr2215Terfs)duplicationPathogenicrs80359615GRCh37Chr 13, 32915136: 32915136
781BRCA2NM_000059.3(BRCA2): c.6656C> G (p.Ser2219Ter)single nucleotide variantPathogenicrs80358893GRCh37Chr 13, 32915148: 32915148
782BRCA2NM_000059.3(BRCA2): c.6658_6661delGAAA (p.Glu2220Thrfs)deletionPathogenicrs80359617GRCh37Chr 13, 32915150: 32915153
783BRCA2NM_000059.3(BRCA2): c.6673delA (p.Thr2225Glnfs)deletionPathogenicrs276174875GRCh37Chr 13, 32915165: 32915165
784BRCA2NM_000059.3(BRCA2): c.6676_6677delGA (p.Glu2226Serfs)deletionPathogenicrs80359619GRCh37Chr 13, 32915168: 32915169
785BRCA2NM_000059.3(BRCA2): c.6678delA (p.Ala2227Glnfs)deletionPathogenicrs80359620GRCh37Chr 13, 32915170: 32915170
786BRCA2NM_000059.3(BRCA2): c.6682dupG (p.Val2228Glyfs)duplicationPathogenicrs80359621GRCh37Chr 13, 32915174: 32915174
787BRCA2NM_000059.3(BRCA2): c.67+1G> Asingle nucleotide variantPathogenicrs81002796GRCh37Chr 13, 32890665: 32890665
788BRCA2NM_000059.3(BRCA2): c.67+1G> Tsingle nucleotide variantPathogenicrs81002796GRCh37Chr 13, 32890665: 32890665
789BRCA2NM_000059.3(BRCA2): c.67+2T> Asingle nucleotide variantPathogenicrs81002885GRCh37Chr 13, 32890666: 32890666
790BRCA2NM_000059.3(BRCA2): c.67+2T> Csingle nucleotide variantPathogenicrs81002885GRCh37Chr 13, 32890666: 32890666
791BRCA2NM_000059.3(BRCA2): c.6715G> T (p.Glu2239Ter)single nucleotide variantPathogenicrs276174876GRCh37Chr 13, 32915207: 32915207
792BRCA2NM_000059.3(BRCA2): c.6743_6755delATGCCACACATTC (p.His2248Leufs)deletionPathogenicrs80359622GRCh37Chr 13, 32915235: 32915247
793BRCA2NM_000059.3(BRCA2): c.6754dupT (p.Ser2252Phefs)duplicationPathogenicrs180670511GRCh37Chr 13, 32915246: 32915246
794BRCA2NM_000059.3(BRCA2): c.6757_6758delCT (p.Leu2253Phefs)deletionPathogenicrs80359623GRCh37Chr 13, 32915249: 32915250
795BRCA2NM_000059.3(BRCA2): c.6761_6762delTT (p.Phe2254Tyrfs)deletionPathogenicrs80359624GRCh37Chr 13, 32915253: 32915254
796BRCA2NM_000059.3(BRCA2): c.6768T> A (p.Cys2256Ter)single nucleotide variantPathogenicrs80358901GRCh37Chr 13, 32915260: 32915260
797BRCA2NM_000059.3(BRCA2): c.6809delG (p.Gly2270Glufs)deletionPathogenicrs80359625GRCh37Chr 13, 32915301: 32915301
798BRCA2NM_000059.3(BRCA2): c.682-1G> Csingle nucleotide variantLikely pathogenic, Pathogenicrs81002831GRCh37Chr 13, 32905055: 32905055
799BRCA2NM_000059.3(BRCA2): c.6833_6837delTCTTA (p.Ile2278Serfs)deletionPathogenicrs80359626GRCh37Chr 13, 32915325: 32915329
800BRCA2NM_000059.3(BRCA2): c.6938-2A> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs81002863GRCh37Chr 13, 32920962: 32920962
801BRCA2NM_000059.3(BRCA2): c.6990_6994delTACCT (p.Ile2330Metfs)deletionPathogenicrs80359631GRCh37Chr 13, 32921016: 32921020
802BRCA2NM_000059.3(BRCA2): c.7003_7007delTTTCG (p.Phe2335Hisfs)deletionPathogenicrs80359632GRCh37Chr 13, 32921029: 32921033
803BRCA2NM_000059.3(BRCA2): c.7007G> C (p.Arg2336Pro)single nucleotide variantPathogenicrs28897743GRCh37Chr 13, 32921033: 32921033
804BRCA2NM_000059.3(BRCA2): c.7007G> T (p.Arg2336Leu)single nucleotide variantLikely pathogenic, Pathogenicrs28897743GRCh37Chr 13, 32921033: 32921033
805BRCA2NM_000059.3(BRCA2): c.7008-2A> Gsingle nucleotide variantPathogenicrs81002823GRCh37Chr 13, 32928996: 32928996
806BRCA2NM_000059.3(BRCA2): c.7008-2A> Tsingle nucleotide variantPathogenicrs81002823GRCh37Chr 13, 32928996: 32928996
807BRCA2NM_000059.3(BRCA2): c.7024C> T (p.Gln2342Ter)single nucleotide variantPathogenicrs80358928GRCh37Chr 13, 32929014: 32929014
808BRCA2NM_000059.3(BRCA2): c.7025_7026delAA (p.Gln2342Argfs)deletionPathogenicrs80359634GRCh37Chr 13, 32929015: 32929016
809BRCA2NM_000059.3(BRCA2): c.7032dupA (p.Gln2345Thrfs)duplicationPathogenicrs80359635GRCh37Chr 13, 32929022: 32929022
810BRCA2NM_000059.3(BRCA2): c.7060C> T (p.Gln2354Ter)single nucleotide variantPathogenicrs80358936GRCh37Chr 13, 32929050: 32929050
811BRCA2NM_000059.3(BRCA2): c.7108_7109delAA (p.Lys2370Ilefs)deletionPathogenicrs80359638GRCh37Chr 13, 32929098: 32929099
812BRCA2NM_000059.3(BRCA2): c.7110delA (p.Lys2370Asnfs)deletionPathogenicrs397507897GRCh37Chr 13, 32929100: 32929100
813BRCA2NM_000059.3(BRCA2): c.7115C> G (p.Ser2372Ter)single nucleotide variantPathogenicrs80358943GRCh37Chr 13, 32929105: 32929105
814BRCA2NM_000059.3(BRCA2): c.7151_7152delAA (p.Gln2384Argfs)deletionPathogenicrs276174890GRCh37Chr 13, 32929141: 32929142
815BRCA2NM_000059.3(BRCA2): c.7156dupT (p.Ser2386Phefs)duplicationPathogenicrs80359639GRCh37Chr 13, 32929146: 32929146
816BRCA2NM_000059.3(BRCA2): c.7180A> T (p.Arg2394Ter)single nucleotide variantPathogenicrs80358946GRCh37Chr 13, 32929170: 32929170
817BRCA2NM_000059.3(BRCA2): c.7208_7211delCCAA (p.Thr2403Lysfs)deletionPathogenicrs80359641GRCh37Chr 13, 32929198: 32929201
818BRCA2NM_000059.3(BRCA2): c.7211_7212delAA (p.Lys2404Serfs)deletionPathogenicrs80359642GRCh37Chr 13, 32929201: 32929202
819BRCA2NM_000059.3(BRCA2): c.7226delC (p.Pro2409Leufs)deletionPathogenicrs80359643GRCh37Chr 13, 32929216: 32929216
820BRCA2NM_000059.3(BRCA2): c.7241C> G (p.Ser2414Ter)single nucleotide variantPathogenicrs80358951GRCh37Chr 13, 32929231: 32929231
821BRCA2NM_000059.3(BRCA2): c.7251_7252delCA (p.His2417Glnfs)deletionPathogenicrs397507907GRCh37Chr 13, 32929241: 32929242
822BRCA2NM_000059.3(BRCA2): c.7254_7255delAG (p.Arg2418Serfs)deletionPathogenicrs80359644GRCh37Chr 13, 32929244: 32929245
823BRCA2NM_000059.3(BRCA2): c.729_732delTGAT (p.Asn243Lysfs)deletionPathogenicrs80359645GRCh37Chr 13, 32905103: 32905106
824BRCA2NM_000059.3(BRCA2): c.733A> T (p.Arg245Ter)single nucleotide variantPathogenicrs80358959GRCh37Chr 13, 32905107: 32905107
825BRCA2NM_000059.3(BRCA2): c.7360delA (p.Ile2454Phefs)deletionPathogenicrs80359646GRCh37Chr 13, 32929350: 32929350
826BRCA2NM_000059.3(BRCA2): c.7443delT (p.Thr2482Glnfs)deletionPathogenicrs80359652GRCh37Chr 13, 32930572: 32930572
827BRCA2NM_000059.3(BRCA2): c.7474_7475delGA (p.Asp2492Tyrfs)deletionPathogenicrs80359653GRCh37Chr 13, 32930603: 32930604
828BRCA2NM_000059.3(BRCA2): c.748delG (p.Val250Terfs)deletionPathogenicrs80359654GRCh37Chr 13, 32905122: 32905122
829BRCA2NM_000059.3(BRCA2): c.7543delA (p.Thr2515Hisfs)deletionPathogenicrs80359658GRCh37Chr 13, 32930672: 32930672
830BRCA2NM_000059.3(BRCA2): c.7558C> T (p.Arg2520Ter)single nucleotide variantPathogenicrs80358981GRCh37Chr 13, 32930687: 32930687
831BRCA2NM_000059.3(BRCA2): c.755delA (p.Asp252Alafs)deletionPathogenicrs80359661GRCh37Chr 13, 32905129: 32905129
832BRCA2NM_000059.3(BRCA2): c.756_759delCAGT (p.Asp252Glufs)deletionPathogenicrs80359663GRCh37Chr 13, 32905130: 32905133
833BRCA2NM_000059.3(BRCA2): c.7593delT (p.Ser2533Leufs)deletionPathogenicrs80359665GRCh37Chr 13, 32930722: 32930722
834BRCA2NM_000059.3(BRCA2): c.7617+1G> Asingle nucleotide variantPathogenicrs397507922GRCh37Chr 13, 32930747: 32930747
835BRCA2NM_000059.3(BRCA2): c.7617+2T> Gsingle nucleotide variantPathogenicrs81002843GRCh37Chr 13, 32930748: 32930748
836BRCA2NM_000059.3(BRCA2): c.7647C> A (p.Cys2549Ter)single nucleotide variantPathogenicrs80358993GRCh37Chr 13, 32931908: 32931908
837BRCA2NM_000059.3(BRCA2): c.7655_7658delTTAA (p.Ile2552Thrfs)deletionPathogenicrs80359669GRCh37Chr 13, 32931916: 32931919
838BRCA2NM_000059.3(BRCA2): c.7679_7680delTT (p.Phe2560Serfs)deletionPathogenicrs80359673GRCh37Chr 13, 32931940: 32931941
839BRCA2NM_000059.3(BRCA2): c.767_768delCA (p.Thr256Lysfs)deletionPathogenicrs80359670GRCh37Chr 13, 32905141: 32905142
840BRCA2NM_000059.3(BRCA2): c.767delC (p.Thr256Lysfs)deletionPathogenicrs397507930GRCh37Chr 13, 32905141: 32905141
841BRCA2NM_000059.3(BRCA2): c.7680dupT (p.Gln2561Serfs)duplicationPathogenicrs397507932GRCh37Chr 13, 32931941: 32931941
842BRCA2NM_000059.3(BRCA2): c.7681C> T (p.Gln2561Ter)single nucleotide variantPathogenicrs80358994GRCh37Chr 13, 32931942: 32931942
843BRCA2NM_000059.3(BRCA2): c.7689delC (p.His2563Glnfs)deletionPathogenicrs80359674GRCh37Chr 13, 32931950: 32931950
844BRCA2NM_000059.3(BRCA2): c.7721G> A (p.Trp2574Ter)single nucleotide variantPathogenicrs80358997GRCh37Chr 13, 32931982: 32931982
845BRCA2NM_000059.3(BRCA2): c.772C> T (p.Gln258Ter)single nucleotide variantPathogenicrs80358998GRCh37Chr 13, 32905146: 32905146
846BRCA2NM_000059.3(BRCA2): c.7738C> T (p.Gln2580Ter)single nucleotide variantPathogenicrs80358999GRCh37Chr 13, 32931999: 32931999
847BRCA2NM_000059.3(BRCA2): c.7757G> A (p.Trp2586Ter)single nucleotide variantPathogenicrs80359003GRCh37Chr 13, 32932018: 32932018
848BRCA2NM_000059.3(BRCA2): c.7761delC (p.Ile2588Tyrfs)deletionPathogenicrs80359678GRCh37Chr 13, 32932022: 32932022
849BRCA2NM_000059.3(BRCA2): c.7762delA (p.Ile2588Tyrfs)deletionPathogenicrs80359679GRCh37Chr 13, 32932023: 32932023
850BRCA2NM_000059.3(BRCA2): c.7805+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs81002809GRCh37Chr 13, 32932067: 32932067
851BRCA2NM_000059.3(BRCA2): c.7806-1G> Tsingle nucleotide variantPathogenicrs81002860GRCh37Chr 13, 32936659: 32936659
852BRCA2NM_000059.3(BRCA2): c.7806-2A> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs81002836GRCh37Chr 13, 32936658: 32936658
853BRCA2NM_000059.3(BRCA2): c.7806_7807insAG (p.Ala2603Argfs)insertionPathogenicrs80359683GRCh37Chr 13, 32936660: 32936661
854BRCA2NM_000059.3(BRCA2): c.7846delT (p.Ser2616Leufs)deletionPathogenicrs397507940GRCh37Chr 13, 32936700: 32936700
855BRCA2NM_000059.3(BRCA2): c.7847delC (p.Ser2616Leufs)deletionPathogenicrs80359685GRCh37Chr 13, 32936701: 32936701
856BRCA2NM_000059.3(BRCA2): c.7863T> A (p.Tyr2621Ter)single nucleotide variantPathogenicrs276174896GRCh37Chr 13, 32936717: 32936717
857BRCA2NM_000059.3(BRCA2): c.7879A> T (p.Ile2627Phe)single nucleotide variantPathogenicrs80359014GRCh37Chr 13, 32936733: 32936733
858BRCA2NM_000059.3(BRCA2): c.7884dupA (p.Trp2629Metfs)duplicationPathogenicrs397507943GRCh37Chr 13, 32936738: 32936738
859BRCA2NM_000059.3(BRCA2): c.7886G> A (p.Trp2629Ter)single nucleotide variantPathogenicrs80359015GRCh37Chr 13, 32936740: 32936740
860BRCA2NM_000059.3(BRCA2): c.7908T> A (p.Cys2636Ter)single nucleotide variantPathogenicrs80359016GRCh37Chr 13, 32936762: 32936762
861BRCA2NM_000059.3(BRCA2): c.793+1G> Asingle nucleotide variantPathogenicrs81002846GRCh37Chr 13, 32905168: 32905168
862BRCA2NM_000059.3(BRCA2): c.793+1G> Tsingle nucleotide variantPathogenicrs81002846GRCh37Chr 13, 32905168: 32905168
863BRCA2NM_000059.3(BRCA2): c.7934delG (p.Arg2645Asnfs)deletionPathogenicrs80359688GRCh37Chr 13, 32936788: 32936788
864BRCA2NM_000059.3(BRCA2): c.7954delG (p.Val2652Cysfs)deletionPathogenicrs80359689GRCh37Chr 13, 32936808: 32936808
865BRCA2NM_000059.3(BRCA2): c.7958T> C (p.Leu2653Pro)single nucleotide variantLikely pathogenic, Pathogenicrs80359022GRCh37Chr 13, 32936812: 32936812
866BRCA2NM_000059.3(BRCA2): c.7976+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs81002873GRCh37Chr 13, 32936831: 32936831
867BRCA2NM_000059.3(BRCA2): c.7976G> C (p.Arg2659Thr)single nucleotide variantPathogenicrs80359027GRCh37Chr 13, 32936830: 32936830
868BRCA2NM_000059.3(BRCA2): c.7980T> G (p.Tyr2660Ter)single nucleotide variantPathogenicrs397507949GRCh37Chr 13, 32937319: 32937319
869BRCA2NM_000059.3(BRCA2): c.7988A> T (p.Glu2663Val)single nucleotide variantPathogenicrs80359031GRCh37Chr 13, 32937327: 32937327
870BRCA2NM_000059.3(BRCA2): c.7996A> T (p.Arg2666Ter)single nucleotide variantPathogenicrs80359032GRCh37Chr 13, 32937335: 32937335
871BRCA2NM_000059.3(BRCA2): c.8002A> T (p.Arg2668Ter)single nucleotide variantPathogenicrs276174900GRCh37Chr 13, 32937341: 32937341
872BRCA2NM_000059.3(BRCA2): c.8009C> A (p.Ser2670Ter)single nucleotide variantPathogenicrs80359035GRCh37Chr 13, 32937348: 32937348
873BRCA2NM_000059.3(BRCA2): c.8021delA (p.Lys2674Argfs)deletionPathogenicrs397507953GRCh37Chr 13, 32937360: 32937360
874BRCA2NM_000059.3(BRCA2): c.8029delG (p.Glu2677Lysfs)deletionPathogenicrs80359691GRCh37Chr 13, 32937368: 32937368
875BRCA2NM_000059.3(BRCA2): c.8042_8043delCA (p.Thr2681Serfs)deletionPathogenicrs276174901GRCh37Chr 13, 32937381: 32937382
876BRCA2NM_000059.3(BRCA2): c.8058delT (p.Val2687Phefs)deletionPathogenicrs80359692GRCh37Chr 13, 32937397: 32937397
877BRCA2NM_000059.3(BRCA2): c.8067T> A (p.Cys2689Ter)single nucleotide variantLikely pathogenic, Pathogenicrs80359046GRCh37Chr 13, 32937406: 32937406
878BRCA2NM_000059.3(BRCA2): c.8067delT (p.Cys2689Trpfs)deletionPathogenicrs80359693GRCh37Chr 13, 32937406: 32937406
879BRCA2NM_000059.3(BRCA2): c.8068_8069delGT (p.Val2690Phefs)deletionPathogenicrs80359694GRCh37Chr 13, 32937407: 32937408
880BRCA2NM_000059.3(BRCA2): c.8084C> G (p.Ser2695Ter)single nucleotide variantPathogenicrs80359048GRCh37Chr 13, 32937423: 32937423
881BRCA2NM_000059.3(BRCA2): c.8087T> A (p.Leu2696Ter)single nucleotide variantPathogenicrs80359050GRCh37Chr 13, 32937426: 32937426
882BRCA2NM_000059.3(BRCA2): c.8087delT (p.Leu2696Terfs)deletionPathogenicrs80359695GRCh37Chr 13, 32937426: 32937426
883BRCA2NM_000059.3(BRCA2): c.809C> G (p.Ser270Ter)single nucleotide variantPathogenicrs276174902GRCh37Chr 13, 32906424: 32906424
884BRCA2NM_000059.3(BRCA2): c.8130delT (p.Ser2710Argfs)deletionPathogenicrs80359696GRCh37Chr 13, 32937469: 32937469
885BRCA2NM_000059.3(BRCA2): c.8140C> T (p.Gln2714Ter)single nucleotide variantPathogenicrs80359058GRCh37Chr 13, 32937479: 32937479
886BRCA2NM_000059.3(BRCA2): c.8167G> C (p.Asp2723His)single nucleotide variantPathogenicrs41293511GRCh37Chr 13, 32937506: 32937506
887BRCA2NM_000059.3(BRCA2): c.818C> A (p.Ser273Ter)single nucleotide variantPathogenicrs80359068GRCh37Chr 13, 32906433: 32906433
888BRCA2NM_000059.3(BRCA2): c.818C> G (p.Ser273Ter)single nucleotide variantPathogenicrs80359068GRCh37Chr 13, 32906433: 32906433
889BRCA2NM_000059.3(BRCA2): c.8234_8237delTGAC (p.Leu2745Glnfs)deletionPathogenicrs80359699GRCh37Chr 13, 32937573: 32937576
890BRCA2NM_000059.3(BRCA2): c.8234dupT (p.Thr2746Aspfs)duplicationPathogenicrs276174903GRCh37Chr 13, 32937573: 32937573
891BRCA2NM_000059.3(BRCA2): c.8237_8238delCA (p.Thr2746Serfs)deletionPathogenicrs80359700GRCh37Chr 13, 32937576: 32937577
892BRCA2NM_000059.3(BRCA2): c.8243G> A (p.Gly2748Asp)single nucleotide variantPathogenicrs80359071GRCh37Chr 13, 32937582: 32937582
893BRCA2NM_000059.3(BRCA2): c.8247_8248delGA (p.Lys2750Aspfs)deletionPathogenicrs80359701GRCh37Chr 13, 32937586: 32937587
894BRCA2NM_000059.3(BRCA2): c.8331+1G> Tsingle nucleotide variantPathogenicrs81002837GRCh37Chr 13, 32937671: 32937671
895BRCA2NM_000059.3(BRCA2): c.8340_8343delTAAC (p.Asn2781Valfs)deletionPathogenicrs80359707GRCh37Chr 13, 32944547: 32944550
896BRCA2NM_000059.3(BRCA2): c.8343delC (p.Asn2781Lysfs)deletionPathogenicrs80359708GRCh37Chr 13, 32944550: 32944550
897BRCA2NM_000059.3(BRCA2): c.8363G> A (p.Trp2788Ter)single nucleotide variantPathogenicrs80359080GRCh37Chr 13, 32944570: 32944570
898BRCA2NM_000059.3(BRCA2): c.8377G> A (p.Gly2793Arg)single nucleotide variantLikely pathogenic, Pathogenicrs80359082GRCh37Chr 13, 32944584: 32944584
899BRCA2NM_000059.3(BRCA2): c.8394_8396delTAGinsAA (p.Arg2799Asnfs)indelPathogenicrs276174907GRCh37Chr 13, 32944601: 32944603
900BRCA2NM_000059.3(BRCA2): c.8395delA (p.Arg2799Aspfs)deletionPathogenicrs80359709GRCh37Chr 13, 32944602: 32944602
901BRCA2NM_000059.3(BRCA2): c.8436dupA (p.Gly2813Argfs)duplicationPathogenicrs80359710GRCh37Chr 13, 32944643: 32944643
902BRCA2NM_000059.3(BRCA2): c.8474delC (p.Ala2825Aspfs)deletionPathogenicrs80359711GRCh37Chr 13, 32944681: 32944681
903BRCA2NM_000059.3(BRCA2): c.8485C> T (p.Gln2829Ter)single nucleotide variantPathogenicrs80359099GRCh37Chr 13, 32944692: 32944692
904BRCA2NM_000059.3(BRCA2): c.8487+1G> Asingle nucleotide variantPathogenicrs81002798GRCh37Chr 13, 32944695: 32944695
905BRCA2NM_000059.3(BRCA2): c.8489G> A (p.Trp2830Ter)single nucleotide variantPathogenicrs80359101GRCh37Chr 13, 32945094: 32945094
906BRCA2NM_000059.3(BRCA2): c.8504C> A (p.Ser2835Ter)single nucleotide variantPathogenicrs80359102GRCh37Chr 13, 32945109: 32945109
907BRCA2NM_000059.3(BRCA2): c.8505delA (p.Ser2836Leufs)deletionPathogenicrs80359713GRCh37Chr 13, 32945110: 32945110
908BRCA2NM_000059.3(BRCA2): c.8535_8538delAGAG (p.Glu2846Lysfs)deletionPathogenicrs80359715GRCh37Chr 13, 32945140: 32945143
909BRCA2NM_000059.3(BRCA2): c.8560delT (p.Tyr2854Metfs)deletionPathogenicrs80359717GRCh37Chr 13, 32945165: 32945165
910BRCA2NM_000059.3(BRCA2): c.8561dupA (p.Tyr2854Terfs)duplicationPathogenicrs397507992GRCh37Chr 13, 32945166: 32945166
911BRCA2NM_000059.3(BRCA2): c.8572C> T (p.Gln2858Ter)single nucleotide variantPathogenicrs80359112GRCh37Chr 13, 32945177: 32945177
912BRCA2NM_000059.3(BRCA2): c.8575C> T (p.Gln2859Ter)single nucleotide variantPathogenicrs80359115GRCh37Chr 13, 32945180: 32945180
913BRCA2NM_000059.3(BRCA2): c.8594T> A (p.Leu2865Ter)single nucleotide variantPathogenicrs80359118GRCh37Chr 13, 32945199: 32945199
914BRCA2NM_000059.3(BRCA2): c.8594dupT (p.Leu2865Phefs)duplicationPathogenicrs80359721GRCh37Chr 13, 32945199: 32945199
915BRCA2NM_000059.3(BRCA2): c.8620G> T (p.Glu2874Ter)single nucleotide variantPathogenicrs397507996GRCh37Chr 13, 32945225: 32945225
916BRCA2NM_000059.3(BRCA2): c.8629G> T (p.Glu2877Ter)single nucleotide variantPathogenicrs80359121GRCh37Chr 13, 32945234: 32945234
917BRCA2NM_000059.3(BRCA2): c.8632+1G> Asingle nucleotide variantLikely pathogenicrs397507997GRCh37Chr 13, 32945238: 32945238
918BRCA2NM_000059.3(BRCA2): c.8633_8754del122 (p.Glu2878Glyfs)deletionPathogenicGRCh37Chr 13, 32950807: 32950928
919BRCA2NM_000059.3(BRCA2): c.8636dupA (p.Asn2879Lysfs)duplicationPathogenicrs80359723GRCh37Chr 13, 32950810: 32950810
920BRCA2NM_000059.3(BRCA2): c.8647delC (p.Pro2883Hisfs)deletionPathogenicrs276174910GRCh37Chr 13, 32950821: 32950821
921BRCA2NM_000059.3(BRCA2): c.8673_8674delAA (p.Arg2892Thrfs)deletionPathogenicrs80359724GRCh37Chr 13, 32950847: 32950848
922BRCA2NM_000059.3(BRCA2): c.8676delA (p.Arg2892Serfs)deletionPathogenicrs80359725GRCh37Chr 13, 32950850: 32950850
923BRCA2NM_000059.3(BRCA2): c.86_87delTT (p.Leu29Glnfs)deletionPathogenicrs80359722GRCh37Chr 13, 32893232: 32893233
924BRCA2NM_000059.3(BRCA2): c.8713_8716delTATG (p.Tyr2905Lysfs)deletionPathogenicrs80359726GRCh37Chr 13, 32950887: 32950890
925BRCA2NM_000059.3(BRCA2): c.8754+1G> Asingle nucleotide variantPathogenicrs397508006GRCh37Chr 13, 32950929: 32950929
926BRCA2NM_000059.3(BRCA2): c.8754G> A (p.Glu2918=)single nucleotide variantLikely pathogenic, Pathogenicrs80359803GRCh37Chr 13, 32950928: 32950928
927BRCA2NM_000059.3(BRCA2): c.8756delG (p.Gly2919Valfs)deletionPathogenicrs80359728GRCh37Chr 13, 32953455: 32953455
928BRCA2NM_000059.3(BRCA2): c.8770G> T (p.Glu2924Ter)single nucleotide variantPathogenicrs80359133GRCh37Chr 13, 32953469: 32953469
929BRCA2NM_000059.3(BRCA2): c.8773C> T (p.Gln2925Ter)single nucleotide variantPathogenicrs80359134GRCh37Chr 13, 32953472: 32953472
930BRCA2NM_000059.3(BRCA2): c.8789delA (p.Asn2930Ilefs)deletionPathogenicrs80359729GRCh37Chr 13, 32953488: 32953488
931BRCA2NM_000059.3(BRCA2): c.880G> T (p.Glu294Ter)single nucleotide variantLikely pathogenic, Pathogenicrs397508009GRCh37Chr 13, 32906495: 32906495
932BRCA2NM_000059.3(BRCA2): c.8848delAinsCT (p.Lys2950Leufs)indelPathogenicrs276174912GRCh37Chr 13, 32953547: 32953547
933BRCA2NM_000059.3(BRCA2): c.8878C> T (p.Gln2960Ter)single nucleotide variantPathogenicrs80359140GRCh37Chr 13, 32953577: 32953577
934BRCA2NM_000059.3(BRCA2): c.8912delA (p.Lys2971Serfs)deletionPathogenicrs80359731GRCh37Chr 13, 32953611: 32953611
935BRCA2NM_000059.3(BRCA2): c.8933C> A (p.Ser2978Ter)single nucleotide variantPathogenicrs80359144GRCh37Chr 13, 32953632: 32953632
936BRCA2NM_000059.3(BRCA2): c.8954-3C> Gsingle nucleotide variantPathogenicrs81002844GRCh37Chr 13, 32953884: 32953884
937BRCA2NM_000059.3(BRCA2): c.8961_8964delGAGT (p.Ser2988Phefs)deletionPathogenicrs80359734GRCh37Chr 13, 32953894: 32953897
938BRCA2NM_000059.3(BRCA2): c.8970G> A (p.Trp2990Ter)single nucleotide variantPathogenicrs80359149GRCh37Chr 13, 32953903: 32953903
939BRCA2NM_000059.3(BRCA2): c.897_898insC (p.Val300Argfs)insertionPathogenicrs80359735GRCh37Chr 13, 32906512: 32906513
940BRCA2NM_000059.3(BRCA2): c.8980_8983delTCAG (p.Ser2994Ilefs)deletionPathogenicrs80359737GRCh37Chr 13, 32953913: 32953916
941BRCA2NM_000059.3(BRCA2): c.8999T> A (p.Leu3000Ter)single nucleotide variantPathogenicrs80359151GRCh37Chr 13, 32953932: 32953932
942BRCA2NM_000059.3(BRCA2): c.9016_9017delTA (p.Tyr3006Glnfs)deletionPathogenicrs80359739GRCh37Chr 13, 32953949: 32953950
943BRCA2NM_000059.3(BRCA2): c.9018C> A (p.Tyr3006Ter)single nucleotide variantPathogenicrs80359154GRCh37Chr 13, 32953951: 32953951
944BRCA2NM_000059.3(BRCA2): c.901dupG (p.Asp301Glyfs)duplicationPathogenicrs80359738GRCh37Chr 13, 32906516: 32906516
945BRCA2NM_000059.3(BRCA2): c.9027delT (p.His3010Ilefs)deletionPathogenicrs80359742GRCh37Chr 13, 32953960: 32953960
946BRCA2NM_000059.3(BRCA2): c.9041C> A (p.Ser3014Ter)single nucleotide variantPathogenicrs80359156GRCh37Chr 13, 32953974: 32953974
947BRCA2NM_000059.3(BRCA2): c.9054_9055delTA (p.Ser3018Argfs)deletionPathogenicrs80359743GRCh37Chr 13, 32953987: 32953988
948BRCA2NM_000059.3(BRCA2): c.9057delA (p.Lys3019Asnfs)deletionPathogenicrs80359744GRCh37Chr 13, 32953990: 32953990
949BRCA2NM_000059.3(BRCA2): c.9069_9076delTAACATAC (p.Asn3024Valfs)deletionPathogenicrs80359746GRCh37Chr 13, 32954002: 32954009
950BRCA2NM_000059.3(BRCA2): c.906delC (p.Ser303Leufs)deletionPathogenicrs397508033GRCh37Chr 13, 32906521: 32906521
951BRCA2NM_000059.3(BRCA2): c.9098_9099insA (p.Gln3034Serfs)insertionPathogenicrs80359747GRCh37Chr 13, 32954031: 32954032
952BRCA2NM_000059.3(BRCA2): c.9099_9100delTC (p.Gln3034Valfs)deletionPathogenicrs80359748GRCh37Chr 13, 32954032: 32954033
953BRCA2NM_000059.3(BRCA2): c.9100C> T (p.Gln3034Ter)single nucleotide variantPathogenicrs80359163GRCh37Chr 13, 32954033: 32954033
954BRCA2NM_000059.3(BRCA2): c.9109C> T (p.Gln3037Ter)single nucleotide variantPathogenicrs397508037GRCh37Chr 13, 32954042: 32954042
955BRCA2NM_000059.3(BRCA2): c.9117+1G> Asingle nucleotide variantPathogenicrs81002802GRCh37Chr 13, 32954051: 32954051
956BRCA2NM_000059.3(BRCA2): c.9117+1G> Tsingle nucleotide variantPathogenicrs81002802GRCh37Chr 13, 32954051: 32954051
957BRCA2NM_000059.3(BRCA2): c.9118-2A> Gsingle nucleotide variantPathogenicrs81002862GRCh37Chr 13, 32954142: 32954142
958BRCA2NM_000059.3(BRCA2): c.9148C> T (p.Gln3050Ter)single nucleotide variantPathogenicrs80359170GRCh37Chr 13, 32954174: 32954174
959BRCA2NM_000059.3(BRCA2): c.9154C> T (p.Arg3052Trp)single nucleotide variantPathogenicrs45580035GRCh37Chr 13, 32954180: 32954180
960BRCA2NM_000059.3(BRCA2): c.9157delG (p.Glu3053Serfs)deletionPathogenicrs80359750GRCh37Chr 13, 32954183: 32954183
961BRCA2NM_000059.3(BRCA2): c.9177delA (p.Lys3059Asnfs)deletionPathogenicrs80359751GRCh37Chr 13, 32954203: 32954203
962BRCA2NM_000059.3(BRCA2): c.9182T> A (p.Leu3061Ter)single nucleotide variantPathogenicrs80359175GRCh37Chr 13, 32954208: 32954208
963BRCA2NM_000059.3(BRCA2): c.9207T> A (p.Cys3069Ter)single nucleotide variantPathogenicrs80359183GRCh37Chr 13, 32954233: 32954233
964BRCA2NM_000059.3(BRCA2): c.9256+1G> Asingle nucleotide variantPathogenicrs81002883GRCh37Chr 13, 32954283: 32954283
965BRCA2NM_000059.3(BRCA2): c.9256G> T (p.Gly3086Ter)single nucleotide variantPathogenicrs80359192GRCh37Chr 13, 32954282: 32954282
966BRCA2NM_000059.3(BRCA2): c.9257-1G> Csingle nucleotide variantLikely pathogenic, Pathogenicrs81002889GRCh37Chr 13, 32968825: 32968825
967BRCA2NM_000059.3(BRCA2): c.9269dupT (p.Val3091Argfs)duplicationPathogenicrs80359753GRCh37Chr 13, 32968838: 32968838
968BRCA2NM_000059.3(BRCA2): c.9275_9278delATTT (p.Tyr3092Cysfs)deletionPathogenicrs80359754GRCh37Chr 13, 32968844: 32968847
969BRCA2NM_000059.3(BRCA2): c.9276T> G (p.Tyr3092Ter)single nucleotide variantPathogenicrs80359197GRCh37Chr 13, 32968845: 32968845
970BRCA2NM_000059.3(BRCA2): c.9285C> G (p.Asp3095Glu)single nucleotide variantLikely pathogenic, Pathogenicrs80359198GRCh37Chr 13, 32968854: 32968854
971BRCA2NM_000059.3(BRCA2): c.9286G> T (p.Glu3096Ter)single nucleotide variantPathogenicrs80359199GRCh37Chr 13, 32968855: 32968855
972BRCA2NM_000059.3(BRCA2): c.930_931delAT (p.Cys311Phefs)deletionPathogenicrs80359755GRCh37Chr 13, 32906545: 32906546
973BRCA2NM_000059.3(BRCA2): c.9310_9311delAA (p.Lys3104Valfs)deletionPathogenicrs80359756GRCh37Chr 13, 32968879: 32968880
974BRCA2NM_000059.3(BRCA2): c.9317G> A (p.Trp3106Ter)single nucleotide variantPathogenicrs80359205GRCh37Chr 13, 32968886: 32968886
975BRCA2NM_000059.3(BRCA2): c.9356T> G (p.Leu3119Ter)single nucleotide variantPathogenicrs80359207GRCh37Chr 13, 32968925: 32968925
976BRCA2NM_000059.3(BRCA2): c.9360delT (p.Ile3120Metfs)deletionPathogenicrs80359757GRCh37Chr 13, 32968929: 32968929
977BRCA2NM_000059.3(BRCA2): c.9376C> T (p.Gln3126Ter)single nucleotide variantPathogenicrs80359210GRCh37Chr 13, 32968945: 32968945
978BRCA2NM_000059.3(BRCA2): c.9382C> T (p.Arg3128Ter)single nucleotide variantPathogenicrs80359212GRCh37Chr 13, 32968951: 32968951
979BRCA2NM_000059.3(BRCA2): c.9403delC (p.Leu3135Phefs)deletionPathogenicrs80359760GRCh37Chr 13, 32968972: 32968972
980BRCA2NM_000059.3(BRCA2): c.9408delT (p.Thr3137Leufs)deletionPathogenicrs80359761GRCh37Chr 13, 32968977: 32968977
981BRCA2NM_000059.3(BRCA2): c.9426_9427delTT (p.Ser3144Cysfs)deletionPathogenicrs80359762GRCh37Chr 13, 32968995: 32968996
982BRCA2NM_000059.3(BRCA2): c.9455_9456delAG (p.Glu3152Glyfs)deletionPathogenicrs80359764GRCh37Chr 13, 32969024: 32969025
983BRCA2NM_000059.3(BRCA2): c.9466delC (p.Gln3156Lysfs)deletionPathogenicrs80359766GRCh37Chr 13, 32969035: 32969035
984BRCA2NM_000059.3(BRCA2): c.9481A> T (p.Lys3161Ter)single nucleotide variantPathogenicrs80359222GRCh37Chr 13, 32969050: 32969050
985BRCA2NM_000059.3(BRCA2): c.9501G> A (p.Glu3167=)single nucleotide variantPathogenicrs80359808GRCh37Chr 13, 32969070: 32969070
986BRCA2NM_000059.3(BRCA2): c.9502-2A> Csingle nucleotide variantLikely pathogenic, Pathogenicrs81002868GRCh37Chr 13, 32971033: 32971033
987BRCA2NM_000059.3(BRCA2): c.9507delT (p.Ile3169Metfs)deletionPathogenicrs80359767GRCh37Chr 13, 32971040: 32971040
988BRCA2NM_000059.3(BRCA2): c.9513_9516delACTT (p.Leu3172Alafs)deletionLikely pathogenic, Pathogenicrs80359769GRCh37Chr 13, 32971046: 32971049
989BRCA2NM_000059.3(BRCA2): c.9541_9554delATGCATATACTGCA (p.Met3181Cysfs)deletionPathogenicrs397508062GRCh37Chr 13, 32971074: 32971087
990BRCA2NM_000059.3(BRCA2): c.956dupA (p.Asn319Lysfs)duplicationPathogenicrs80359770GRCh37Chr 13, 32906571: 32906571
991BRCA2NM_000059.3(BRCA2): c.961C> T (p.Gln321Ter)single nucleotide variantPathogenicrs80359234GRCh37Chr 13, 32906576: 32906576
992BRCA2NM_000059.3(BRCA2): c.9649-2A> Gsingle nucleotide variantPathogenicrs81002895GRCh37Chr 13, 32972297: 32972297
993BRCA2NM_000059.3(BRCA2): c.9666delT (p.Cys3222Trpfs)deletionPathogenicrs80359772GRCh37Chr 13, 32972316: 32972316
994BRCA2NM_000059.3(BRCA2): c.9676delT (p.Tyr3226Ilefs)deletionPathogenicrs80359774GRCh37Chr 13, 32972326: 32972326
995BRCA2NM_000059.3(BRCA2): c.9868delG (p.Val3290Phefs)deletionPathogenicrs80359776GRCh37Chr 13, 32972518: 32972518
996BRCA2NM_000059.3(BRCA2): c.9883C> T (p.Gln3295Ter)single nucleotide variantLikely pathogenic, Pathogenicrs80359247GRCh37Chr 13, 32972533: 32972533
997BRCA2NM_000059.3(BRCA2): c.9924C> G (p.Tyr3308Ter)single nucleotide variantPathogenicrs4987049GRCh37Chr 13, 32972574: 32972574
998BRCA2NM_000059.3(BRCA2): c.9925G> T (p.Glu3309Ter)single nucleotide variantPathogenicrs80359251GRCh37Chr 13, 32972575: 32972575
999BRCA2NM_000059.3(BRCA2): c.993_994delAA (p.Lys331Asnfs)deletionPathogenicrs80359777GRCh37Chr 13, 32906608: 32906609
1000BRCA2NM_000059.3(BRCA2): c.994delA (p.Ile332Phefs)deletionPathogenicrs80359778GRCh37Chr 13, 32906609: 32906609
1001BRCA2NM_000059.3(BRCA2): c.1321dupA (p.Thr441Asnfs)duplicationPathogenicrs80359281GRCh37Chr 13, 32906936: 32906936
1002BRCA2NM_000059.3(BRCA2): c.2834_2835delAA (p.Lys945Argfs)deletionPathogenicrs80359356GRCh37Chr 13, 32911326: 32911327
1003BRCA2NM_000059.3(BRCA2): c.5961G> T (p.Gln1987His)single nucleotide variantLikely pathogenicrs387907575GRCh37Chr 13, 32914453: 32914453
1004BRCA2NM_000059.3(BRCA2): c.3075_3076delGAinsTT (p.Lys1025_Lys1026delinsAsnTer)indelPathogenicrs587779362GRCh37Chr 13, 32911567: 32911568
1005BRCA2NM_000059.3(BRCA2): c.5195delT (p.Leu1732Profs)deletionPathogenicrs587779363GRCh37Chr 13, 32913687: 32913687
1006BRCA2NM_000059.3(BRCA2): c.5343_5344insA (p.Gln1782Thrfs)insertionPathogenicrs398122530GRCh37Chr 13, 32913835: 32913836
1007BRCA2NM_000059.3(BRCA2): c.5352delC (p.Asn1784Lysfs)deletionPathogenicrs398122531GRCh37Chr 13, 32913844: 32913844
1008BRCA2NM_000059.3(BRCA2): c.5584_5587delGTGA (p.Val1862Lysfs)deletionPathogenicrs398122535GRCh37Chr 13, 32914076: 32914079
1009BRCA2NM_000059.3(BRCA2): c.5692delG (p.Asp1898Metfs)deletionPathogenicrs398122539GRCh37Chr 13, 32914184: 32914184
1010BRCA2NM_000059.3(BRCA2): c.5842delT (p.Cys1948Valfs)deletionPathogenicrs398122541GRCh37Chr 13, 32914334: 32914334
1011BRCA2NM_000059.3(BRCA2): c.6018_6019dupTA (p.Thr2007Ilefs)duplicationPathogenicrs398122545GRCh37Chr 13, 32914510: 32914511
1012BRCA2NM_000059.3(BRCA2): c.6059_6062delAACA (p.Glu2020Valfs)deletionPathogenicrs398122546GRCh37Chr 13, 32914551: 32914554
1013BRCA2NM_000059.3(BRCA2): c.635_636delGA (p.Arg212Lysfs)deletionPathogenicrs80359575GRCh37Chr 13, 32903583: 32903584
1014BRCA2NM_000059.3(BRCA2): c.6392_6396delAATTA (p.Lys2131Ilefs)deletionPathogenicrs398122555GRCh37Chr 13, 32914884: 32914888
1015BRCA2NM_000059.3(BRCA2): c.6405_6408delCTTA (p.Asn2135Lysfs)deletionPathogenicrs398122556GRCh37Chr 13, 32914897: 32914900
1016BRCA2NM_000059.3(BRCA2): c.6444delT (p.Ile2149Leufs)deletionPathogenicrs398122557GRCh37Chr 13, 32914936: 32914936
1017BRCA2NM_000059.3(BRCA2): c.6487C> T (p.Gln2163Ter)single nucleotide variantPathogenicrs398122559GRCh37Chr 13, 32914979: 32914979
1018BRCA2NM_000059.3(BRCA2): c.6586A> T (p.Lys2196Ter)single nucleotide variantPathogenicrs398122561GRCh37Chr 13, 32915078: 32915078
1019BRCA2NM_000059.3(BRCA2): c.6626_6627dupTA (p.Glu2210Terfs)duplicationPathogenicrs398122562GRCh37Chr 13, 32915118: 32915119
1020BRCA2NM_000059.3(BRCA2): c.681+1G> Asingle nucleotide variantLikely pathogenicrs398122565GRCh37Chr 13, 32903630: 32903630
1021BRCA2NM_000059.3(BRCA2): c.6859_6863delAGAAA (p.Arg2287Leufs)deletionPathogenicrs398122568GRCh37Chr 13, 32918712: 32918716
1022BRCA2NM_000059.3(BRCA2): c.6946_6949delAAAG (p.Lys2316Ilefs)deletionPathogenicrs398122571GRCh37Chr 13, 32920972: 32920975
1023BRCA2NM_000059.3(BRCA2): c.6996_7004delTGTACCCTTins20 (p.?)indelPathogenicrs483353076GRCh37Chr 13, 32921022: 32921030
1024BRCA2NM_000059.3(BRCA2): c.7142delC (p.Pro2381Hisfs)deletionPathogenicrs398122576GRCh37Chr 13, 32929132: 32929132
1025BRCA2NM_000059.3(BRCA2): c.7525dupA (p.Ser2509Lysfs)duplicationPathogenicrs80359656GRCh37Chr 13, 32930654: 32930654
1026BRCA2NM_000059.3(BRCA2): c.7556dupC (p.Arg2520Serfs)duplicationPathogenicrs80359660GRCh37Chr 13, 32930685: 32930685
1027BRCA2NM_000059.3(BRCA2): c.7889_7890dupAA (p.Leu2631Asnfs)duplicationPathogenicrs398122593GRCh37Chr 13, 32936743: 32936744
1028BRCA2NM_000059.3(BRCA2): c.8200_8209delCCTCCCCTCT (p.Pro2734Terfs)deletionPathogenicrs398122599GRCh37Chr 13, 32937539: 32937548
1029BRCA2NM_000059.3(BRCA2): c.8308delG (p.Ala2770Profs)deletionPathogenicrs398122601GRCh37Chr 13, 32937647: 32937647
1030BRCA2NM_000059.3(BRCA2): c.8331+2T> Asingle nucleotide variantPathogenicrs398122602GRCh37Chr 13, 32937672: 32937672
1031BRCA2NM_000059.3(BRCA2): c.8374delC (p.Gly2793Aspfs)deletionPathogenicrs398122605GRCh37Chr 13, 32944581: 32944581
1032BRCA2NM_000059.3(BRCA2): c.8400_8402delTTTins4indelPathogenicrs483353077GRCh37Chr 13, 32944607: 32944609
1033BRCA2NM_000059.3(BRCA2): c.8581A> T (p.Arg2861Ter)single nucleotide variantPathogenicrs398122608GRCh37Chr 13, 32945186: 32945186
1034BRCA2NM_000059.3(BRCA2): c.9060delT (p.Glu3021Lysfs)deletionPathogenicrs398122609GRCh37Chr 13, 32953993: 32953993
1035BRCA2NM_000059.3(BRCA2): c.9127G> T (p.Glu3043Ter)single nucleotide variantPathogenicrs398122610GRCh37Chr 13, 32954153: 32954153
1036BRCA2NM_000059.3(BRCA2): c.9252_9255delAACAinsTT (p.Lys3084Asnfs)indelPathogenicrs276174918GRCh37Chr 13, 32954278: 32954281
1037BRCA2NM_000059.3(BRCA2): c.9376delC (p.Gln3126Serfs)deletionPathogenicrs398122612GRCh37Chr 13, 32968945: 32968945
1038BRCA2NM_000059.3(BRCA2): c.9573G> A (p.Trp3191Ter)single nucleotide variantPathogenicrs398122617GRCh37Chr 13, 32971106: 32971106
1039BRCA2NM_000059.3(BRCA2): c.9682delA (p.Ser3228Valfs)deletionPathogenicrs398122618GRCh37Chr 13, 32972332: 32972332
1040BRCA2NM_000059.3(BRCA2): c.9808delG (p.Ala3270Profs)deletionLikely pathogenic, Pathogenicrs398122622GRCh37Chr 13, 32972458: 32972458
1041BRCA2NM_000059.3(BRCA2): c.9824delG (p.Ser3275Ilefs)deletionPathogenicrs398122623GRCh37Chr 13, 32972474: 32972474
1042BRCA2NP_000050.2: p.Asp3095Gluprotein onlyPathogenic
1043BRCA2NP_000050.2: p.Leu557Terprotein onlyPathogenic
1044BRCA2NP_000050.2: p.Met1Ileprotein onlyPathogenic
1045BRCA2NP_000050.2: p.Ser1630Terprotein onlyPathogenic
1046BRCA2NP_000050.2: p.Ser1760Terprotein onlyPathogenic
1047BRCA2NP_000050.2: p.Ser1882Terprotein onlyPathogenic
1048BRCA2NP_000050.2: p.Ser1955Terprotein onlyPathogenic
1049BRCA2NP_000050.2: p.Ser1970Terprotein onlyPathogenic
1050BRCA2NP_000050.2: p.Ser2984Terprotein onlyPathogenic
1051BRCA2NP_000050.2: p.Ser2994Terprotein onlyPathogenic
1052BRCA2NP_000050.2: p.Ser611Terprotein onlyPathogenic
1053BRCA2NP_000050.2: p.Ser780Terprotein onlyPathogenic
1054BRCA2NP_000050.2: p.Ser869Terprotein onlyPathogenic
1055BRCA2NP_000050.2: p.Trp2586Terprotein onlyPathogenic
1056BRCA2NP_000050.2: p.Trp3127Terprotein onlyPathogenic
1057BRCA2NP_000050.2: p.Trp993Terprotein onlyPathogenic
1058BRCA2NP_000050.2: p.Tyr1655Terprotein onlyPathogenic
1059BRCA2NP_000050.2: p.Tyr1894Terprotein onlyPathogenic
1060BRCA2NP_000050.2: p.Tyr3308Terprotein onlyPathogenic
1061BRCA2NP_000050.2: p.Tyr792Terprotein onlyPathogenic
1062BRCA2NM_000059.3(BRCA2): c.8633-1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs398122711GRCh37Chr 13, 32950806: 32950806
1063BRCA2NM_000059.3(BRCA2): c.8839G> T (p.Glu2947Ter)single nucleotide variantPathogenicrs398122715GRCh37Chr 13, 32953538: 32953538
1064BRCA2NM_000059.3(BRCA2): c.8933C> G (p.Ser2978Ter)single nucleotide variantPathogenicrs80359144GRCh37Chr 13, 32953632: 32953632
1065BRCA2NM_000059.3(BRCA2): c.1399_1402delAAGA (p.Lys467Glufs)deletionPathogenicrs398122726GRCh37Chr 13, 32907014: 32907017
1066BRCA2NM_000059.3(BRCA2): c.1642C> T (p.Gln548Ter)single nucleotide variantPathogenicrs398122729GRCh37Chr 13, 32907257: 32907257
1067BRCA2NM_000059.3(BRCA2): c.1819A> T (p.Lys607Ter)single nucleotide variantPathogenicrs80358471GRCh37Chr 13, 32907434: 32907434
1068BRCA2NM_000059.3(BRCA2): c.186delT (p.Phe62Leufs)deletionPathogenicrs398122733GRCh37Chr 13, 32893332: 32893332
1069BRCA2NM_000059.3(BRCA2): c.1945C> T (p.Gln649Ter)single nucleotide variantPathogenicrs398122735GRCh37Chr 13, 32910437: 32910437
1070BRCA2NM_000059.3(BRCA2): c.2025delA (p.Cys676Valfs)deletionPathogenicrs398122737GRCh37Chr 13, 32910517: 32910517
1071BRCA2NM_000059.3(BRCA2): c.217C> T (p.Gln73Ter)single nucleotide variantPathogenicrs398122741GRCh37Chr 13, 32893363: 32893363
1072BRCA2NM_000059.3(BRCA2): c.2214T> A (p.Cys738Ter)single nucleotide variantPathogenicrs398122742GRCh37Chr 13, 32910706: 32910706
1073BRCA2NM_000059.3(BRCA2): c.2253_2254delTG (p.Asp752Leufs)deletionPathogenicrs398122744GRCh37Chr 13, 32910745: 32910746
1074BRCA2NM_000059.3(BRCA2): c.2330dupA (p.Asp777Glufs)duplicationPathogenicrs80359328GRCh37Chr 13, 32910822: 32910822
1075BRCA2NM_000059.3(BRCA2): c.2368G> T (p.Glu790Ter)single nucleotide variantPathogenicrs398122746GRCh37Chr 13, 32910860: 32910860
1076BRCA2NM_000059.3(BRCA2): c.2370delA (p.Glu790Aspfs)deletionPathogenicrs398122747GRCh37Chr 13, 32910862: 32910862
1077BRCA2NM_000059.3(BRCA2): c.2617dupA (p.Ile873Asnfs)duplicationPathogenicrs398122748GRCh37Chr 13, 32911109: 32911109
1078BRCA2NM_000059.3(BRCA2): c.2618dupT (p.Thr874Asnfs)duplicationPathogenicrs398122749GRCh37Chr 13, 32911110: 32911110
1079BRCA2NM_000059.3(BRCA2): c.2692_2696delAGGAA (p.Arg898Terfs)deletionPathogenicrs398122752GRCh37Chr 13, 32911184: 32911188
1080BRCA2NM_000059.3(BRCA2): c.2808delA (p.Lys936Asnfs)deletionPathogenicrs398122753GRCh37Chr 13, 32911300: 32911300
1081BRCA2NM_000059.3(BRCA2): c.3326delC (p.Ala1109Glufs)deletionPathogenicrs398122762GRCh37Chr 13, 32911818: 32911818
1082BRCA2NM_000059.3(BRCA2): c.3336delA (p.Glu1113Asnfs)deletionPathogenicrs398122763GRCh37Chr 13, 32911828: 32911828
1083BRCA2NM_000059.3(BRCA2): c.3708dupA (p.Ala1237Serfs)duplicationPathogenicrs398122769GRCh37Chr 13, 32912200: 32912200
1084BRCA2NM_000059.3(BRCA2): c.3873delA (p.Gln1291Hisfs)deletionPathogenicrs398122772GRCh37Chr 13, 32912365: 32912365
1085BRCA2NM_000059.3(BRCA2): c.4000_4001delTT (p.Leu1334Argfs)deletionPathogenicrs398122775GRCh37Chr 13, 32912492: 32912493
1086BRCA2NM_000059.3(BRCA2): c.410_411ins8insertionPathogenicrs483353080GRCh37Chr 13, 32899306: 32899307
1087BRCA2NM_000059.3(BRCA2): c.4211delC (p.Ser1404Terfs)deletionPathogenicrs398122777GRCh37Chr 13, 32912703: 32912703
1088BRCA2NM_000059.3(BRCA2): c.426-2A> Gsingle nucleotide variantPathogenicrs398122779GRCh37Chr 13, 32900236: 32900236
1089BRCA2NM_000059.3(BRCA2): c.4325C> G (p.Ser1442Ter)single nucleotide variantPathogenicrs80358670GRCh37Chr 13, 32912817: 32912817
1090BRCA2NM_000059.3(BRCA2): c.4552delG (p.Glu1518Asnfs)deletionPathogenicrs398122783GRCh37Chr 13, 32913044: 32913044
1091BRCA2NM_000059.3(BRCA2): c.4847T> G (p.Leu1616Ter)single nucleotide variantPathogenicrs398122786GRCh37Chr 13, 32913339: 32913339
1092BRCA2NM_000059.3(BRCA2): c.48_50delGACins10 (p.?)indelPathogenicrs483353081GRCh38Chr 13, 32316508: 32316510
1093BRCA2NM_000059.3(BRCA2): c.4964dupA (p.Tyr1655Terfs)duplicationPathogenicrs398122789GRCh37Chr 13, 32913456: 32913456
1094BRCA2NM_000059.3(BRCA2): c.4990_4991delAT (p.Ile1664Terfs)deletionPathogenicrs398122790GRCh37Chr 13, 32913482: 32913483
1095BRCA2NM_000059.3(BRCA2): c.5054C> A (p.Ser1685Ter)single nucleotide variantPathogenicrs398122791GRCh37Chr 13, 32913546: 32913546
1096BRCA2NM_000059.3(BRCA2): c.512dupT (p.Lys172Glufs)duplicationPathogenicrs398122793GRCh37Chr 13, 32900415: 32900415
1097BRCA2NM_000059.3(BRCA2): c.5201_5205delAAAAAins6indelPathogenicrs483353082GRCh37Chr 13, 32913693: 32913697
1098BRCA2NM_000059.3(BRCA2): c.5215delT (p.Tyr1739Ilefs)deletionPathogenicrs398122796GRCh37Chr 13, 32913707: 32913707
1099BRCA2BRCA2, 6-BP DEL, PHE-TERdeletionPathogenic
1100BRCA2NM_000059.3(BRCA2): c.6275_6276delTT (p.Leu2092Profs)deletionPathogenicrs11571658GRCh37Chr 13, 32914767: 32914768
1101BRCA2NM_000059.3(BRCA2): c.6591_6592delTG (p.Glu2198Asnfs)deletionPathogenicrs80359605GRCh37Chr 13, 32915083: 32915084
1102BRCA2NM_000059.3(BRCA2): c.5722_5723delCT (p.Leu1908Argfs)deletionPathogenicrs80359530GRCh37Chr 13, 32914214: 32914215
1103BRCA2BRCA2, 1-BP DELdeletionPathogenic
1104BRCA2NM_000059.3(BRCA2): c.2808_2811del4 (p.Ala938Profs)deletionPathogenicrs80359351GRCh37Chr 13, 32911300: 32911303
1105BRCA2BRCA2, 1-BP DEL, 8525CdeletionPathogenic
1106BRCA2NM_000059.3(BRCA2): c.5946delT (p.Ser1982Argfs)deletionPathogenicrs80359550GRCh37Chr 13, 32914438: 32914438
1107BRCA2NM_000059.3(BRCA2): c.771_775delTCAAA (p.Asn257Lysfs)deletionPathogenicrs80359671GRCh37Chr 13, 32905145: 32905149
1108BRCA2BRCA2, 1-BP INS, 3295AinsertionPathogenic
1109BRCA2NM_000059.3(BRCA2): c.8537_8538delAG (p.Glu2846Glyfs)deletionPathogenicrs80359714GRCh37Chr 13, 32945142: 32945143
1110BRCA2BRCA2, IVS23AS, A-G, -2single nucleotide variantPathogenic
1111BRCA2BRCA2, 4-BP DEL, NT3034deletionPathogenic
1112BRCA2NM_000059.3(BRCA2): c.8165C> G (p.Thr2722Arg)single nucleotide variantPathogenicrs80359062GRCh37Chr 13, 32937504: 32937504
1113BRCA2NM_000059.3(BRCA2): c.658_659delGT (p.Val220Ilefs)deletionPathogenicrs80359604GRCh37Chr 13, 32903606: 32903607
1114BRCA2NM_000059.3(BRCA2): c.8219T> A (p.Leu2740Ter)single nucleotide variantPathogenicrs80359070GRCh37Chr 13, 32937558: 32937558
1115BRCA2NM_000059.3(BRCA2): c.4648G> T (p.Glu1550Ter)single nucleotide variantPathogenicrs80358695GRCh37Chr 13, 32913140: 32913140
1116BRCA2NM_000059.3(BRCA2): c.5645C> G (p.Ser1882Ter)single nucleotide variantPathogenic, risk factorrs80358785GRCh37Chr 13, 32914137: 32914137
1117BRCA2NM_000059.3(BRCA2): c.9196C> T (p.Gln3066Ter)single nucleotide variantPathogenicrs80359180GRCh37Chr 13, 32954222: 32954222
1118BRCA2NM_000059.3(BRCA2): c.631+1G> Asingle nucleotide variantPathogenicrs81002897GRCh37Chr 13, 32900751: 32900751
1119BRCA2NM_000059.3(BRCA2): c.631+2T> Gsingle nucleotide variantPathogenicrs81002899GRCh37Chr 13, 32900752: 32900752
1120BRCA2NM_000059.3(BRCA2): c.1907C> G (p.Ser636Ter)single nucleotide variantLikely pathogenicrs431825288GRCh37Chr 13, 32907522: 32907522
1121BRCA2NM_000059.3(BRCA2): c.2091dupA (p.Leu698Thrfs)duplicationPathogenicrs431825292GRCh37Chr 13, 32910583: 32910583
1122BRCA2NM_000059.3(BRCA2): c.2840delT (p.Leu947Trpfs)deletionPathogenicrs431825300GRCh37Chr 13, 32911332: 32911332
1123BRCA2NM_000059.3(BRCA2): c.3386dupA (p.Phe1130Valfs)duplicationPathogenicrs431825305GRCh37Chr 13, 32911878: 32911878
1124BRCA2NM_000059.3(BRCA2): c.3477C> A (p.Cys1159Ter)single nucleotide variantPathogenicrs431825307GRCh37Chr 13, 32911969: 32911969
1125BRCA2NM_000059.3(BRCA2): c.3779delT (p.Leu1260Tyrfs)deletionPathogenicrs431825312GRCh37Chr 13, 32912271: 32912271
1126BRCA2NM_000059.3(BRCA2): c.3856_3859delAAAA (p.Lys1286Ilefs)deletionPathogenicrs431825313GRCh37Chr 13, 32912348: 32912351
1127BRCA2NM_000059.3(BRCA2): c.3939C> G (p.Tyr1313Ter)single nucleotide variantPathogenicrs80358641GRCh37Chr 13, 32912431: 32912431
1128BRCA2NM_000059.3(BRCA2): c.4085delA (p.His1362Profs)deletionPathogenicrs431825315GRCh37Chr 13, 32912577: 32912577
1129BRCA2NM_000059.3(BRCA2): c.4519delC (p.Gln1507Argfs)deletionPathogenicrs431825321GRCh37Chr 13, 32913011: 32913011
1130BRCA2NM_000059.3(BRCA2): c.4936_4937delGA (p.Glu1646Asnfs)deletionPathogenicrs431825323GRCh37Chr 13, 32913428: 32913429
1131BRCA2NM_000059.3(BRCA2): c.4976_4977insG (p.Tyr1661Leufs)insertionPathogenicrs431825325GRCh37Chr 13, 32913468: 32913469
1132BRCA2NM_000059.3(BRCA2): c.5378delA (p.Asn1793Metfs)deletionPathogenicrs431825330GRCh37Chr 13, 32913870: 32913870
1133BRCA2NM_000059.3(BRCA2): c.5578A> T (p.Lys1860Ter)single nucleotide variantPathogenicrs431825332GRCh37Chr 13, 32914070: 32914070
1134BRCA2NM_000059.3(BRCA2): c.6211delA (p.Ser2071Valfs)deletionLikely pathogenic, Pathogenicrs431825338GRCh37Chr 13, 32914703: 32914703
1135BRCA2NM_000059.3(BRCA2): c.6397dupT (p.Ser2133Phefs)duplicationPathogenicrs431825342GRCh37Chr 13, 32914889: 32914889
1136BRCA2NM_000059.3(BRCA2): c.6602delC (p.Ser2201Leufs)deletionPathogenicrs431825343GRCh37Chr 13, 32915094: 32915094
1137BRCA2NM_000059.3(BRCA2): c.6959T> A (p.Leu2320Ter)single nucleotide variantPathogenicrs80358923GRCh37Chr 13, 32920985: 32920985
1138BRCA2NM_000059.3(BRCA2): c.715delA (p.Ser239Valfs)deletionPathogenicrs431825350GRCh37Chr 13, 32905089: 32905089
1139BRCA2NM_000059.3(BRCA2): c.7985C> A (p.Thr2662Lys)single nucleotide variantPathogenicrs431825362GRCh37Chr 13, 32937324: 32937324
1140BRCA2NM_000059.3(BRCA2): c.8463delT (p.Ile2822Phefs)deletionPathogenicrs431825365GRCh37Chr 13, 32944670: 32944670
1141BRCA2NM_000059.3(BRCA2): c.8632+1G> Tsingle nucleotide variantLikely pathogenicrs397507997GRCh37Chr 13, 32945238: 32945238
1142BRCA2NM_000059.3(BRCA2): c.8837T> A (p.Leu2946Ter)single nucleotide variantPathogenicrs431825371GRCh37Chr 13, 32953536: 32953536
1143BRCA2NM_000059.3(BRCA2): c.8975_9100del126 (p.Pro2992_Thr3033del)deletionLikely pathogenicrs80359736GRCh37Chr 13, 32953908: 32954033
1144BRCA2NM_000059.3(BRCA2): c.9256+1G> Csingle nucleotide variantPathogenicrs81002883GRCh37Chr 13, 32954283: 32954283
1145BRCA2NP_000050.2: p.Gly2793Argprotein onlyPathogenic
1146BRCA2NP_000050.2: p.Ser3200Terprotein onlyPathogenic

Expression for genes affiliated with Breast-Ovarian Cancer, Familial, 2

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Search GEO for disease gene expression data for Breast-Ovarian Cancer, Familial, 2.

Pathways for genes affiliated with Breast-Ovarian Cancer, Familial, 2

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GO Terms for genes affiliated with Breast-Ovarian Cancer, Familial, 2

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Sources for Breast-Ovarian Cancer, Familial, 2

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