MCID: BRS072
MIFTS: 11

Breast-Ovarian Cancer, Familial, 2 malady

Genetic diseases, Cancer diseases, Reproductive diseases, Rare diseases categories
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Summaries for Breast-Ovarian Cancer, Familial, 2

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MalaCards based summary: Breast-Ovarian Cancer, Familial, 2 and has symptoms including An important gene associated with Breast-Ovarian Cancer, Familial, 2 is BRCA2 (breast cancer 2, early onset). Affiliated tissues include breast.

Description from OMIM:46 612555

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

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

Name: Breast-Ovarian Cancer, Familial, 2 46


Classifications:



Related Diseases for Breast-Ovarian Cancer, Familial, 2

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

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

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Drug clinical trials:

Search ClinicalTrials for Breast-Ovarian Cancer, Familial, 2

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:

32
Breast

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:

6 (show all 1,051)
id Gene Name Type Significance SNP ID Assembly Location
1BRCA2BRCA2: exon 2 deletionundetermined variantPathogenic
2BRCA2NM_000059.3(BRCA2): c.775_776delAG (p.Glu260Serfs)deletionPathogenicrs80359677GRCh37Chr 13, 32905149: 32905150
3BRCA2NM_000059.3(BRCA2): c.891_899delAACAGTTGTinsGATACTTCAG (p.Thr298Ilefs)indelPathogenicrs276174914GRCh38Chr 13, 32332368: 32332377
4BRCA2NM_000059.3(BRCA2): c.995_996insG (p.Ile332Metfs)insertionPathogenicrs276174931GRCh37Chr 13, 32906610: 32906611
5BRCA2NM_000059.3(BRCA2): c.1190_1191insTTAG (p.Gln397Hisfs)insertionPathogenicrs80359266GRCh37Chr 13, 32906805: 32906806
6BRCA2NM_000059.3(BRCA2): c.1231delA (p.Ile411Tyrfs)deletionPathogenicrs80359269GRCh37Chr 13, 32906846: 32906846
7BRCA2NM_000059.3(BRCA2): c.1301_1304delAAAG (p.Lys437Ilefs)deletionPathogenicrs80359277GRCh37Chr 13, 32906916: 32906919
8BRCA2NM_000059.3(BRCA2): c.1309_1312delAAAG (p.Lys437Ilefs)deletionPathogenicrs80359279GRCh38Chr 13, 32332787: 32332790
9BRCA2NM_000059.3(BRCA2): c.1362dupA (p.Ser455Ilefs)duplicationPathogenicrs80359282GRCh38Chr 13, 32332840: 32332841
10BRCA2NM_000059.3(BRCA2): c.1408dupG (p.Glu470Glyfs)duplicationPathogenicrs80359284GRCh37Chr 13, 32907023: 32907024
11BRCA2NM_000059.3(BRCA2): c.1542dupG (p.Thr515Aspfs)duplicationPathogenicrs80359288GRCh37Chr 13, 32907156: 32907157
12BRCA2NM_000059.3(BRCA2): c.1608dupT (p.Glu537Terfs)duplicationPathogenicrs276174811GRCh38Chr 13, 32333085: 32333086
13BRCA2NM_000059.3(BRCA2): c.1648dupG (p.Glu550Glyfs)duplicationPathogenicrs80359296GRCh37Chr 13, 32907263: 32907264
14BRCA2NM_000059.3(BRCA2): c.1772_1775delTTTA (p.Ile591Metfs)deletionPathogenicrs80359304GRCh38Chr 13, 32333250: 32333253
15BRCA2U43746.1: n.2001_2004delTATTdeletionPathogenic
16BRCA2NM_000059.3(BRCA2): c.1794_1798delATCTT (p.Ser599Terfs)deletionPathogenicrs276174813GRCh38Chr 13, 32333272: 32333276
17BRCA2NM_000059.3(BRCA2): c.1807dupA (p.Ile605Asnfs)duplicationPathogenicrs80359306GRCh37Chr 13, 32907421: 32907422
18BRCA2NM_000059.3(BRCA2): c.1806delA (p.Ile605Tyrfs)deletionPathogenicrs80359307GRCh37Chr 13, 32907421: 32907421
19BRCA2NM_000059.3(BRCA2): c.1854_1855insA (p.Gln619Thrfs)insertionPathogenicrs80359313GRCh37Chr 13, 32907469: 32907470
20BRCA2NM_000059.3(BRCA2): c.2212dupT (p.Cys738Leufs)duplicationPathogenicrs80359325GRCh38Chr 13, 32336567: 32336568
21BRCA2NM_000059.3(BRCA2): c.37_38insT (p.Glu13Valfs)insertionPathogenicrs80359400GRCh38Chr 13, 32316497: 32316498
22BRCA2NM_000059.3(BRCA2): c.2439dupT (p.Pro814Serfs)duplicationPathogenicrs276174822GRCh37Chr 13, 32910931: 32910932
23BRCA2NM_000059.3(BRCA2): c.2526dupA (p.Ala843Serfs)duplicationPathogenicrs80359332GRCh38Chr 13, 32336881: 32336882
24BRCA2NM_000059.3(BRCA2): c.2583dupA (p.Asn863Lysfs)duplicationPathogenicrs80359335GRCh37Chr 13, 32911074: 32911075
25BRCA2NM_000059.3(BRCA2): c.2584_2590delAAAAATC (p.Asn863Lysfs)deletionPathogenicrs80359336GRCh37Chr 13, 32911076: 32911082
26BRCA2NM_000059.3(BRCA2): c.71_96del26 (p.Leu24Terfs)deletionPathogenicrs80359637GRCh37Chr 13, 32893217: 32893242
27BRCA2NM_000059.3(BRCA2): c.2806_2809delAAAC (p.Ala938Profs)deletionPathogenicrs80359351GRCh37Chr 13, 32911298: 32911301
28BRCA2NM_000059.3(BRCA2): c.2833_2834insTT (p.Lys945Ilefs)insertionPathogenicrs80359355GRCh37Chr 13, 32911325: 32911326
29BRCA2NM_000059.3(BRCA2): c.2842dupG (p.Val948Glyfs)duplicationPathogenicrs80359359GRCh38Chr 13, 32337197: 32337198
30BRCA2NM_000059.3(BRCA2): c.2899_2900delCT (p.Leu967Argfs)deletionPathogenicrs80359361GRCh37Chr 13, 32911391: 32911392
31BRCA2NM_000059.3(BRCA2): c.2930_2940delTGAATATAGAT (p.Leu977Terfs)deletionPathogenicrs80359364GRCh38Chr 13, 32337285: 32337295
32BRCA2NM_000059.3(BRCA2): c.2978G> A (p.Trp993Ter)single nucleotide variantPathogenicrs80358543GRCh37Chr 13, 32911470: 32911470
33BRCA2NM_000059.3(BRCA2): c.3067_3071delAACAT (p.Asn1023Terfs)deletionPathogenicrs80359369GRCh38Chr 13, 32337422: 32337426
34BRCA2U43746.1: n.3347_3348delAGdeletionPathogenic
35BRCA2NM_000059.3(BRCA2): c.106dupT (p.Ser36Phefs)duplicationPathogenicrs80359262GRCh37Chr 13, 32893252: 32893253
36BRCA2NM_000059.3(BRCA2): c.3192_3195delAATT (p.Asn1066Leufs)deletionPathogenicrs80359375GRCh38Chr 13, 32337547: 32337550
37BRCA2NM_000059.3(BRCA2): c.3362C> A (p.Ser1121Ter)single nucleotide variantPathogenicrs80358579GRCh38Chr 13, 32337717: 32337717
38BRCA2NM_000059.3: c.3407_3408ins100insertionPathogenicGRCh38Chr 13, 32337762: 32337763
39BRCA2NM_000059.3(BRCA2): c.3454dupT (p.Leu1152Phefs)duplicationPathogenicrs80359385GRCh38Chr 13, 32337808: 32337809
40BRCA2NM_000059.3(BRCA2): c.3458delA (p.Lys1153Argfs)deletionPathogenicrs80359386GRCh37Chr 13, 32911950: 32911950
41BRCA2E49Xsingle nucleotide variantPathogenic
42BRCA2NM_000059.3(BRCA2): c.3598_3599delTG (p.Cys1200Terfs)deletionPathogenicrs80359391GRCh38Chr 13, 32337953: 32337954
43BRCA2U43746.1: n.384_385insAluinsertionPathogenic
44BRCA2U43746.1: n.3875_3876delGTdeletionPathogenic
45BRCA2NM_000059.3(BRCA2): c.3854delA (p.Asn1287Ilefs)deletionPathogenicrs80359406GRCh37Chr 13, 32912346: 32912346
46BRCA2NM_000059.3(BRCA2): c.4006_4007insA (p.Phe1336Tyrfs)insertionPathogenicrs80359419GRCh37Chr 13, 32912498: 32912499
47BRCA2NM_000059.3(BRCA2): c.4008_4009insCATC (p.Asp1337Hisfs)insertionPathogenicrs80359420GRCh37Chr 13, 32912500: 32912501
48BRCA2NM_000059.3(BRCA2): c.4014_4015insGG (p.Ser1339Glyfs)insertionPathogenicrs276174839GRCh37Chr 13, 32912506: 32912507
49BRCA2NM_000059.3(BRCA2): c.4048dupC (p.His1350Profs)duplicationPathogenicrs80359422GRCh38Chr 13, 32338403: 32338404
50BRCA2NM_000059.3(BRCA2): c.4131_4132insTGAGGA (p.Thr1378Ter)insertionPathogenicrs80359429GRCh37Chr 13, 32912623: 32912624
51BRCA2NM_000059.3(BRCA2): c.4138_4139insTT (p.Lys1381Leufs)insertionPathogenicrs276174842GRCh38Chr 13, 32338493: 32338494
52BRCA2NM_000059.3(BRCA2): c.4283dupT (p.Gln1429Serfs)duplicationPathogenicrs80359439GRCh37Chr 13, 32912774: 32912775
53BRCA2NM_000059.3(BRCA2): c.4454_4457delTAGT (p.Val1486Asnfs)deletionPathogenicrs80359449GRCh38Chr 13, 32338809: 32338812
54BRCA2NM_000059.3(BRCA2): c.4478dupA (p.Ser1494Lysfs)duplicationPathogenicrs80359453GRCh37Chr 13, 32912969: 32912970
55BRCA2NM_000059.3(BRCA2): c.4477_4480delGAAA (p.Glu1493Valfs)deletionPathogenicrs80359454GRCh38Chr 13, 32338832: 32338835
56BRCA2U43746.1: n.489_490delCTdeletionPathogenic
57BRCA2NM_000059.3(BRCA2): c.4809_4810insA (p.Leu1604Thrfs)insertionPathogenicrs80359467GRCh37Chr 13, 32913301: 32913302
58BRCA2NM_000059.3(BRCA2): c.4904dupT (p.Leu1635Phefs)duplicationPathogenicrs80359471GRCh37Chr 13, 32913396: 32913397
59BRCA2NM_000059.3(BRCA2): c.4965C> R (p.Tyr1655Ter)undetermined variantPathogenicrs80358721GRCh38Chr 13, 32339319: 32339320
60BRCA2NM_000059.3(BRCA2): c.4981_4982insG (p.Tyr1661Terfs)insertionPathogenicrs80359476GRCh38Chr 13, 32339336: 32339337
61BRCA2NM_000059.3(BRCA2): c.5068_5071delAAAA (p.Lys1690Asnfs)deletionPathogenicrs80359479GRCh37Chr 13, 32913560: 32913563
62BRCA2NM_000059.3(BRCA2): c.5074_5075insA (p.Trp1692Terfs)insertionPathogenicrs80359482GRCh37Chr 13, 32913566: 32913567
63BRCA2NM_000059.3(BRCA2): c.5129_5132delATGT (p.Tyr1710Terfs)deletionPathogenicrs80359484GRCh38Chr 13, 32339484: 32339487
64BRCA2NM_000059.3(BRCA2): c.5145_5148delGTAT (p.Tyr1716Lysfs)deletionPathogenicrs276174854GRCh38Chr 13, 32339500: 32339503
65BRCA2NM_000059.3(BRCA2): c.5222_5225delGTAA (p.Ser1741Thrfs)deletionPathogenicrs80359498GRCh38Chr 13, 32339577: 32339580
66BRCA2NM_000059.3(BRCA2): c.5239_5240insT (p.Asn1747Ilefs)insertionPathogenicrs80359500GRCh37Chr 13, 32913731: 32913732
67BRCA2NM_000059.3(BRCA2): c.5270_5286del17 (p.Tyr1757Serfs)deletionPathogenicrs80359502GRCh37Chr 13, 32913762: 32913778
68BRCA2NM_000059.3(BRCA2): c.5492dupT (p.Ser1832Ilefs)duplicationPathogenicrs80359517GRCh37Chr 13, 32913984: 32913985
69BRCA2NM_000059.3(BRCA2): c.5575_5578delATTA (p.Ile1859Lysfs)deletionPathogenicrs80359520GRCh37Chr 13, 32914067: 32914070
70BRCA2NM_000059.3(BRCA2): c.5655_5656insCC (p.Gln1886Profs)insertionPathogenicrs276174861GRCh38Chr 13, 32340010: 32340011
71BRCA2NM_000059.3(BRCA2): c.5682C> A (p.Tyr1894Ter)single nucleotide variantPathogenicrs41293497GRCh37Chr 13, 32914174: 32914174
72BRCA2NM_000059.3(BRCA2): c.5718_5719delCT (p.Leu1908Argfs)deletionPathogenicrs80359530GRCh37Chr 13, 32914210: 32914211
73BRCA2NM_000059.3(BRCA2): c.5848_5851delGTTA (p.Ser1951Trpfs)deletionPathogenicrs80359543GRCh37Chr 13, 32914340: 32914343
74BRCA2NM_000059.3(BRCA2): c.5863delT (p.Ser1955Glnfs)deletionPathogenicrs80359546GRCh37Chr 13, 32914355: 32914355
75BRCA2NM_000059.3(BRCA2): c.5931dupT (p.Ser1979Terfs)duplicationPathogenicrs80359548GRCh37Chr 13, 32914422: 32914423
76BRCA2NM_000059.3(BRCA2): c.5953_5954delTC (p.Ser1985Cysfs)deletionPathogenicrs80359551GRCh37Chr 13, 32914445: 32914446
77BRCA2NM_000059.3(BRCA2): c.6203_6204insA (p.Leu2069Phefs)insertionPathogenicrs80359566GRCh37Chr 13, 32914695: 32914696
78BRCA2U43746.1: n.6437delTdeletionPathogenic
79BRCA2NM_000059.3(BRCA2): c.6219dupA (p.His2074Thrfs)duplicationPathogenicrs80359568GRCh38Chr 13, 32340574: 32340575
80BRCA2NM_000059.3(BRCA2): c.6374_6375insA (p.Cys2126Leufs)insertionPathogenicrs80359579GRCh38Chr 13, 32340729: 32340730
81BRCA2NM_000059.3(BRCA2): c.6391_6392insT (p.Lys2131Ilefs)insertionPathogenicrs80359580GRCh37Chr 13, 32914883: 32914884
82BRCA2NM_000059.3(BRCA2): c.6402_6406delTAACT (p.Asn2135Lysfs)deletionPathogenicrs80359584GRCh37Chr 13, 32914894: 32914898
83BRCA2NM_000059.3(BRCA2): c.6462_6463delTC (p.Gln2157Ilefs)deletionPathogenicrs80359596GRCh37Chr 13, 32914954: 32914955
84BRCA2NM_000059.3: c.6535_6536ins8insertionPathogenicrs80359601GRCh37Chr 13, 32915027: 32915028
85BRCA2NM_000059.3(BRCA2): c.6535dupG (p.Val2179Glyfs)duplicationPathogenicrs80359601GRCh37Chr 13, 32915027: 32915028
86BRCA2NM_000059.3(BRCA2): c.6591delT (p.Glu2198Lysfs)deletionPathogenicrs80359606GRCh37Chr 13, 32915083: 32915083
87BRCA2NM_000059.3(BRCA2): c.6644_6648delACTCC (p.Tyr2215Terfs)deletionPathogenicrs80359616GRCh37Chr 13, 32915136: 32915140
88BRCA2NM_000059.3(BRCA2): c.6645C> G (p.Tyr2215Ter)single nucleotide variantPathogenicrs80358892GRCh38Chr 13, 32341000: 32341000
89BRCA2NM_000059.3(BRCA2): c.6658_6662delGAAAA (p.Glu2220Leufs)deletionPathogenicrs80359618GRCh37Chr 13, 32915150: 32915154
90BRCA2NM_000059.3(BRCA2): c.6829_6833delCTTAT (p.Ile2278Serfs)deletionPathogenicrs80359626GRCh37Chr 13, 32915321: 32915325
91BRCA2NM_000059.3(BRCA2): c.489_490insG (p.Leu164Valfs)insertionPathogenicrs120074205GRCh38Chr 13, 32326255: 32326256
92BRCA2NM_000059.3(BRCA2): c.7379_7380insG (p.Asn2460Lysfs)insertionPathogenicrs80359647GRCh37Chr 13, 32929369: 32929370
93BRCA2NM_000059.3(BRCA2): c.7595_7596insTT (p.Ala2534Leufs)insertionPathogenicrs80359666GRCh37Chr 13, 32930724: 32930725
94BRCA2NM_000059.3(BRCA2): c.7596_7609delCTCTGCGTGTTCTC (p.Ser2533Terfs)deletionPathogenicrs80359667GRCh37Chr 13, 32930725: 32930738
95BRCA2U43746.1: n.7829+1G> Asingle nucleotide variantPathogenic
96BRCA2U43746.1: n.7829+1G> Tsingle nucleotide variantPathogenic
97BRCA2U43746.1: n.7829+2T> Gsingle nucleotide variantPathogenic
98BRCA2U43746.1: n.7830-1G> Asingle nucleotide variantPathogenic
99BRCA2NM_000059.3(BRCA2): c.7627dupT (p.Tyr2543Leufs)duplicationPathogenicrs80359668GRCh37Chr 13, 32931888: 32931889
100BRCA2NM_000059.3(BRCA2): c.7719dupA (p.Trp2574Metfs)duplicationPathogenicrs80359676GRCh37Chr 13, 32931980: 32931981
101BRCA2NM_000059.3(BRCA2): c.7791dupA (p.Glu2598Argfs)duplicationPathogenicrs80359681GRCh37Chr 13, 32932052: 32932053
102BRCA2NM_000059.3(BRCA2): c.7819_7820insGACA (p.Thr2607Argfs)insertionPathogenicrs80359684GRCh37Chr 13, 32936673: 32936674
103BRCA2NM_000059.3(BRCA2): c.7910_7914delCCTTT (p.Phe2638Terfs)deletionPathogenicrs80359686GRCh37Chr 13, 32936764: 32936768
104BRCA2NM_000059.3(BRCA2): c.7921_7926delGAATTTinsAG (p.Glu2641Argfs)indelPathogenicrs276174897GRCh37Chr 13, 32936774: 32936780
105BRCA2NM_000059.3(BRCA2): c.7977-1G> Tsingle nucleotide variantPathogenicrs81002874GRCh38Chr 13, 32363178: 32363178
106BRCA2NM_000059.3(BRCA2): c.8010_8032del23 (p.Ala2671Glyfs)deletionPathogenicrs80359690GRCh37Chr 13, 32937349: 32937371
107BRCA2U43746.1: n.8397dupTGGGduplicationPathogenic
108BRCA2NM_000059.3(BRCA2): c.8188G> C (p.Ala2730Pro)single nucleotide variantLikely pathogenicrs80359066GRCh38Chr 13, 32363390: 32363390
109BRCA2NM_000059.3(BRCA2): c.8219dupT (p.Leu2740Phefs)duplicationPathogenicrs80359697GRCh37Chr 13, 32937558: 32937559
110BRCA2NM_000059.3(BRCA2): c.8246_8247delAG (p.Lys2750Aspfs)deletionPathogenicrs80359701GRCh37Chr 13, 32937585: 32937586
111BRCA2NM_000059.3: c.8278_8279ins71insertionPathogenicGRCh37Chr 13, 32937617: 32937618
112BRCA2NM_000059.3(BRCA2): c.8323dupA (p.Met2775Asnfs)duplicationPathogenicrs276174904GRCh37Chr 13, 32937662: 32937663
113BRCA2U43746.1: n.8560_8860del301deletionPathogenic
114BRCA2NM_000059.3(BRCA2): c.8533_8534delAG (p.Glu2846Glyfs)deletionPathogenicrs80359714GRCh37Chr 13, 32945138: 32945139
115BRCA2NM_000059.3(BRCA2): c.8578_8579delAA (p.Lys2860Glufs)deletionPathogenicrs80359719GRCh37Chr 13, 32945183: 32945184
116BRCA2U43746.1: n.886_887delGCdeletionPathogenic
117BRCA2NM_000059.3(BRCA2): c.8748_8749insTTAC (p.Glu2918Profs)insertionPathogenicrs80359727GRCh37Chr 13, 32950922: 32950923
118BRCA2NM_000059.3: c.8800_8801ins346insertionPathogenicGRCh37Chr 13, 32953499: 32953500
119BRCA2U43746.1: n.9176_9186del11deletionPathogenic
120BRCA2NM_000059.3(BRCA2): c.8969G> A (p.Trp2990Ter)single nucleotide variantPathogenicrs80359148GRCh37Chr 13, 32953902: 32953902
121BRCA2NM_000059.3(BRCA2): c.9015_9016delAT (p.Tyr3006Glnfs)deletionPathogenicrs80359739GRCh38Chr 13, 32379811: 32379812
122BRCA2U43746.1: n.9279+1G> Asingle nucleotide variantPathogenic
123BRCA2NM_000059.3(BRCA2): c.9066_9067insAA (p.Ala3023Lysfs)insertionPathogenicrs80359745GRCh37Chr 13, 32953999: 32954000
124BRCA2NM_000059.3(BRCA2): c.9098dupC (p.Gln3034Serfs)duplicationPathogenicrs80359747GRCh38Chr 13, 32379894: 32379895
125BRCA2U43746.1: n.9476_9491del16deletionPathogenic
126BRCA2NM_000059.3(BRCA2): c.9384_9385insG (p.Pro3129Alafs)insertionPathogenicrs80359758GRCh37Chr 13, 32968953: 32968954
127BRCA2NM_000059.3(BRCA2): c.9456_9457insAG (p.Gly3153Argfs)insertionPathogenicrs80359765GRCh38Chr 13, 32394888: 32394889
128BRCA2NM_000059.3(BRCA2): c.9672dupA (p.Tyr3225Ilefs)duplicationPathogenicrs80359773GRCh37Chr 13, 32972322: 32972323
129BRCA2NM_000059.3(BRCA2): c.767_771delCAAAT (p.Asn257Lysfs)deletionPathogenicrs80359671GRCh37Chr 13, 32905141: 32905145
130BRCA2NM_000059.3(BRCA2): c.1029delA (p.Lys343Asnfs)deletionPathogenicrs80359260GRCh37Chr 13, 32906644: 32906644
131BRCA2NM_000059.3(BRCA2): c.1054dupT (p.Tyr352Leufs)duplicationPathogenicrs80359261GRCh37Chr 13, 32906669: 32906670
132BRCA2NM_000059.3(BRCA2): c.1156delG (p.Glu386Lysfs)deletionPathogenicrs397507262GRCh37Chr 13, 32906771: 32906771
133BRCA2NM_000059.3: c.1189_1190ins4insertionPathogenicGRCh37Chr 13, 32906804: 32906805
134BRCA2NM_000059.3(BRCA2): c.1205delG (p.Gly402Valfs)deletionPathogenicrs397507265GRCh37Chr 13, 32906820: 32906820
135BRCA2NM_000059.3(BRCA2): c.1238delT (p.Leu413Hisfs)deletionPathogenicrs80359271GRCh37Chr 13, 32906853: 32906853
136BRCA2NM_000059.3(BRCA2): c.1253C> A (p.Ser418Ter)single nucleotide variantPathogenicrs397507266GRCh37Chr 13, 32906868: 32906868
137BRCA2NM_000059.3(BRCA2): c.1257delT (p.Cys419Trpfs)deletionPathogenicrs80359272GRCh37Chr 13, 32906872: 32906872
138BRCA2NM_000059.3(BRCA2): c.1265delA (p.Asn422Ilefs)deletionPathogenicrs80359273GRCh37Chr 13, 32906880: 32906880
139BRCA2NM_000059.3(BRCA2): c.1296_1297delGA (p.Asn433Glnfs)deletionPathogenicrs80359276GRCh37Chr 13, 32906911: 32906912
140BRCA2NM_000059.3(BRCA2): c.1310_1313delAAGA (p.Lys437Ilefs)deletionPathogenicrs80359280GRCh37Chr 13, 32906925: 32906928
141BRCA2NM_000059.3(BRCA2): c.1593dupA (p.Glu532Argfs)duplicationPathogenicrs397507272GRCh37Chr 13, 32907208: 32907209
142BRCA2NM_000059.3(BRCA2): c.1705C> A (p.Gln569Lys)single nucleotide variantPathogenicrs397507274GRCh37Chr 13, 32907320: 32907320
143BRCA2NM_000059.3(BRCA2): c.1755_1759delGAAAA (p.Lys585Asnfs)deletionPathogenicrs80359302GRCh37Chr 13, 32907370: 32907374
144BRCA2NM_000059.3(BRCA2): c.1796_1800delCTTAT (p.Ser599Terfs)deletionPathogenicrs276174814GRCh37Chr 13, 32907411: 32907415
145BRCA2NM_000059.3(BRCA2): c.1799A> G (p.Tyr600Cys)single nucleotide variantPathogenicrs397507276GRCh37Chr 13, 32907414: 32907414
146BRCA2NM_000059.3(BRCA2): c.1800T> A (p.Tyr600Ter)single nucleotide variantPathogenicrs80358464GRCh37Chr 13, 32907415: 32907415
147BRCA2NM_000059.3(BRCA2): c.1813dupA (p.Ile605Asnfs)duplicationPathogenicrs80359308GRCh37Chr 13, 32907428: 32907428
148BRCA2NM_000059.3(BRCA2): c.1813delA (p.Ile605Tyrfs)deletionPathogenicrs80359309GRCh37Chr 13, 32907428: 32907428
149BRCA2NM_000059.3(BRCA2): c.1832C> A (p.Ser611Ter)single nucleotide variantPathogenicrs80358474GRCh37Chr 13, 32907447: 32907447
150BRCA2NM_000059.3(BRCA2): c.1850C> A (p.Ser617Ter)single nucleotide variantPathogenicrs397507278GRCh37Chr 13, 32907465: 32907465
151BRCA2NM_000059.3(BRCA2): c.1850C> G (p.Ser617Ter)single nucleotide variantPathogenicrs397507278GRCh37Chr 13, 32907465: 32907465
152BRCA2NM_000059.3(BRCA2): c.1929delG (p.Arg645Glufs)deletionPathogenicrs80359316GRCh37Chr 13, 32910421: 32910421
153BRCA2NM_000059.3(BRCA2): c.1970T> A (p.Leu657Ter)single nucleotide variantPathogenicrs397507279GRCh37Chr 13, 32910462: 32910462
154BRCA2NM_000059.3(BRCA2): c.2036delA (p.Asn679Ilefs)deletionPathogenicrs80359318GRCh37Chr 13, 32910528: 32910528
155BRCA2NM_000059.3(BRCA2): c.2092delC (p.Leu698Tyrfs)deletionPathogenicrs80359322GRCh37Chr 13, 32910584: 32910584
156BRCA2NM_000059.3(BRCA2): c.2175dupA (p.Val726Serfs)duplicationPathogenicrs276174819GRCh37Chr 13, 32910667: 32910668
157BRCA2NM_000059.3(BRCA2): c.2231C> G (p.Ser744Ter)single nucleotide variantPathogenicrs397507282GRCh37Chr 13, 32910723: 32910723
158BRCA2NM_000059.3(BRCA2): c.2324delC (p.Lys776Argfs)deletionPathogenicrs397507284GRCh37Chr 13, 32910816: 32910816
159BRCA2NM_000059.3(BRCA2): c.2409T> G (p.Tyr803Ter)single nucleotide variantPathogenicrs80358504GRCh37Chr 13, 32910901: 32910901
160BRCA2NM_000059.3(BRCA2): c.2426T> G (p.Leu809Ter)single nucleotide variantPathogenicrs397507285GRCh37Chr 13, 32910918: 32910918
161BRCA2NM_000059.3(BRCA2): c.2480dupA (p.Asn827Lysfs)duplicationPathogenicrs397507286GRCh37Chr 13, 32910972: 32910973
162BRCA2NM_000059.3(BRCA2): c.2588dupA (p.Asn863Lysfs)duplicationPathogenicrs80359338GRCh37Chr 13, 32911080: 32911080
163BRCA2NM_000059.3(BRCA2): c.2618_2619delTA (p.Ile873Asnfs)deletionPathogenicrs397507290GRCh37Chr 13, 32911110: 32911111
164BRCA2NM_000059.3(BRCA2): c.2658_2659delTG (p.Asn886Lysfs)deletionPathogenicrs397507291GRCh37Chr 13, 32911150: 32911151
165BRCA2NM_000059.3(BRCA2): c.274C> T (p.Gln92Ter)single nucleotide variantPathogenicrs80358529GRCh37Chr 13, 32893420: 32893420
166BRCA2NM_000059.3(BRCA2): c.2808_2811delACAA (p.Ala938Profs)deletionPathogenicrs80359352GRCh37Chr 13, 32911300: 32911303
167BRCA2NM_000059.3(BRCA2): c.2818C> T (p.Gln940Ter)single nucleotide variantPathogenicrs80358532GRCh37Chr 13, 32911310: 32911310
168BRCA2NM_000059.3(BRCA2): c.2957_2958insG (p.Asn986Lysfs)insertionPathogenicrs80359365GRCh37Chr 13, 32911449: 32911450
169BRCA2NM_000059.3(BRCA2): c.2979G> A (p.Trp993Ter)single nucleotide variantPathogenicrs80358544GRCh37Chr 13, 32911471: 32911471
170BRCA2NM_000059.3(BRCA2): c.3009_3010delCA (p.His1003Glnfs)deletionPathogenicrs397507300GRCh37Chr 13, 32911501: 32911502
171BRCA2NM_000059.3(BRCA2): c.3073A> T (p.Lys1025Ter)single nucleotide variantPathogenicrs80358550GRCh37Chr 13, 32911565: 32911565
172BRCA2NM_000059.3(BRCA2): c.3109C> T (p.Gln1037Ter)single nucleotide variantPathogenicrs80358557GRCh37Chr 13, 32911601: 32911601
173BRCA2NM_000059.3(BRCA2): c.3158T> G (p.Leu1053Ter)single nucleotide variantPathogenicrs41293477GRCh37Chr 13, 32911650: 32911650
174BRCA2NM_000059.3(BRCA2): c.316+1G> Asingle nucleotide variantPathogenicrs397507303GRCh37Chr 13, 32893463: 32893463
175BRCA2NM_000059.3(BRCA2): c.316+1G> Csingle nucleotide variantPathogenicrs397507303GRCh37Chr 13, 32893463: 32893463
176BRCA2NM_000059.3(BRCA2): c.3160_3163delGATA (p.Asp1054Ilefs)deletionPathogenicrs80359371GRCh37Chr 13, 32911652: 32911655
177BRCA2NM_000059.3(BRCA2): c.3170_3174delAGAAA (p.Lys1057Thrfs)deletionPathogenicrs80359373GRCh37Chr 13, 32911662: 32911666
178BRCA2NM_000059.3(BRCA2): c.3182delA (p.Lys1061Serfs)deletionPathogenicrs397507304GRCh37Chr 13, 32911674: 32911674
179BRCA2NM_000059.3(BRCA2): c.3264dupT (p.Gln1089Serfs)duplicationPathogenicrs80359380GRCh37Chr 13, 32911756: 32911756
180BRCA2NM_000059.3(BRCA2): c.3308T> G (p.Leu1103Ter)single nucleotide variantPathogenicrs397507305GRCh37Chr 13, 32911800: 32911800
181BRCA2NM_000059.3(BRCA2): c.3545_3546delTT (p.Phe1182Terfs)deletionLikely pathogenicrs80359388GRCh37Chr 13, 32912037: 32912038
182BRCA2NM_000059.3(BRCA2): c.3689delC (p.Ser1230Leufs)deletionPathogenicrs80359398GRCh37Chr 13, 32912181: 32912181
183BRCA2NM_000059.3(BRCA2): c.3717delA (p.Lys1239Asnfs)deletionPathogenicrs80359401GRCh37Chr 13, 32912209: 32912209
184BRCA2NM_000059.3(BRCA2): c.3744_3747delTGAG (p.Ser1248Argfs)deletionPathogenicrs80359403GRCh37Chr 13, 32912236: 32912239
185BRCA2NM_000059.3(BRCA2): c.3847_3848delGT (p.Val1283Lysfs)deletionPathogenicrs80359405GRCh37Chr 13, 32912339: 32912340
186BRCA2NM_000059.3(BRCA2): c.3848dupT (p.Ser1284Lysfs)duplicationPathogenicrs397507317GRCh37Chr 13, 32912340: 32912341
187BRCA2NM_000059.3(BRCA2): c.3865_3868delAAAT (p.Lys1289Alafs)deletionPathogenicrs80359412GRCh37Chr 13, 32912357: 32912360
188BRCA2NM_000059.3(BRCA2): c.389delT (p.Ser131Profs)deletionPathogenicrs397507318GRCh37Chr 13, 32899285: 32899285
189BRCA2NM_000059.3(BRCA2): c.3922G> T (p.Glu1308Ter)single nucleotide variantPathogenicrs80358638GRCh37Chr 13, 32912414: 32912414
190BRCA2NM_000059.3(BRCA2): c.396T> A (p.Cys132Ter)single nucleotide variantPathogenicrs397507320GRCh37Chr 13, 32899292: 32899292
191BRCA2NM_000059.3: c.3978_3979ins4insertionPathogenicGRCh37Chr 13, 32912470: 32912471
192BRCA2NM_000059.3(BRCA2): c.3G> T (p.Met1Ile)single nucleotide variantPathogenicrs80358650GRCh37Chr 13, 32890600: 32890600
193BRCA2NM_000059.3(BRCA2): c.3delG (p.Met1Ilefs)deletionPathogenicrs80359418GRCh37Chr 13, 32890600: 32890600
194BRCA2NM_000059.3(BRCA2): c.4013delG (p.Gly1338Alafs)deletionPathogenicrs397507321GRCh37Chr 13, 32912505: 32912505
195BRCA2NM_000059.3(BRCA2): c.4058_4062delAAACG (p.Glu1353Glyfs)deletionPathogenicrs397507322GRCh37Chr 13, 32912550: 32912554
196BRCA2NM_000059.3(BRCA2): c.407delA (p.Asn136Ilefs)deletionPathogenicrs80359425GRCh37Chr 13, 32899303: 32899303
197BRCA2NM_000059.3(BRCA2): c.4092_4093delAT (p.Ile1364Metfs)deletionPathogenicrs80359426GRCh37Chr 13, 32912584: 32912585
198BRCA2NM_000059.3(BRCA2): c.4127_4130delGAAA (p.Gly1376Alafs)deletionPathogenicrs397507323GRCh37Chr 13, 32912619: 32912622
199BRCA2NM_000059.3: c.4131_4132ins6insertionPathogenicGRCh37Chr 13, 32912623: 32912624
200BRCA2NM_000059.3(BRCA2): c.4151T> A (p.Leu1384Ter)single nucleotide variantPathogenicrs397507325GRCh37Chr 13, 32912643: 32912643
201BRCA2NM_000059.3(BRCA2): c.4163_4164delCTinsA (p.Thr1388Asnfs)indelPathogenicrs276174843GRCh37Chr 13, 32912655: 32912656
202BRCA2NM_000059.3(BRCA2): c.4222C> T (p.Gln1408Ter)single nucleotide variantPathogenicrs80358663GRCh37Chr 13, 32912714: 32912714
203BRCA2NM_000059.3(BRCA2): c.4243G> T (p.Glu1415Ter)single nucleotide variantPathogenicrs397507327GRCh37Chr 13, 32912735: 32912735
204BRCA2NM_000059.3(BRCA2): c.4276dupA (p.Thr1426Asnfs)duplicationPathogenicrs80359438GRCh37Chr 13, 32912768: 32912768
205BRCA2NM_000059.3(BRCA2): c.4284dupT (p.Gln1429Serfs)duplicationPathogenicrs80359440GRCh37Chr 13, 32912776: 32912776
206BRCA2NM_000059.3(BRCA2): c.4319_4320delAA (p.Lys1440Argfs)deletionPathogenicrs397507328GRCh37Chr 13, 32912811: 32912812
207BRCA2NM_000059.3(BRCA2): c.4405_4409delGACAT (p.Asp1469Lysfs)deletionPathogenicrs397507331GRCh37Chr 13, 32912897: 32912901
208BRCA2NM_000059.3(BRCA2): c.4414_4415delAA (p.Lys1472Glufs)deletionPathogenicrs397507332GRCh37Chr 13, 32912906: 32912907
209BRCA2NM_000059.3(BRCA2): c.4415_4418delAGAA (p.Lys1472Thrfs)deletionPathogenicrs397507333GRCh37Chr 13, 32912907: 32912910
210BRCA2NM_000059.3(BRCA2): c.4449delA (p.Asp1484Thrfs)deletionPathogenicrs80359448GRCh37Chr 13, 32912941: 32912941
211BRCA2NM_000059.3(BRCA2): c.4470dupA (p.Leu1491Thrfs)duplicationPathogenicrs397507334GRCh37Chr 13, 32912962: 32912963
212BRCA2NM_000059.3(BRCA2): c.4472_4475delTGAA (p.Leu1491Glnfs)deletionPathogenicrs80359452GRCh37Chr 13, 32912964: 32912967
213BRCA2NM_000059.3(BRCA2): c.4631dupA (p.Asn1544Lysfs)duplicationPathogenicrs80359460GRCh37Chr 13, 32913123: 32913123
214BRCA2NM_000059.3(BRCA2): c.4631delA (p.Asn1544Thrfs)deletionPathogenicrs80359461GRCh37Chr 13, 32913123: 32913123
215BRCA2NM_000059.3(BRCA2): c.4638delT (p.Phe1546Leufs)deletionPathogenicrs80359462GRCh37Chr 13, 32913130: 32913130
216BRCA2NM_000059.3(BRCA2): c.4712_4713delAG (p.Glu1571Glyfs)deletionPathogenicrs397507339GRCh37Chr 13, 32913204: 32913205
217BRCA2NM_000059.3(BRCA2): c.475+4delTdeletionLikely pathogenicrs276174848GRCh37Chr 13, 32900291: 32900291
218BRCA2NM_000059.3(BRCA2): c.476-1G> Asingle nucleotide variantPathogenicrs397507340GRCh37Chr 13, 32900378: 32900378
219BRCA2NM_000059.3(BRCA2): c.476-2A> Gsingle nucleotide variantPathogenicrs81002853GRCh37Chr 13, 32900377: 32900377
220BRCA2NM_000059.3(BRCA2): c.4876_4877delAA (p.Asn1626Serfs)deletionPathogenicrs80359470GRCh37Chr 13, 32913368: 32913369
221BRCA2NM_000059.3(BRCA2): c.4921_4924delGAAA (p.Glu1641Metfs)deletionPathogenicrs397507344GRCh37Chr 13, 32913413: 32913416
222BRCA2NM_000059.3(BRCA2): c.4936_4939delGAAA (p.Glu1646Glnfs)deletionPathogenicrs80359473GRCh37Chr 13, 32913428: 32913431
223BRCA2NM_000059.3(BRCA2): c.4965C> G (p.Tyr1655Ter)single nucleotide variantPathogenicrs80358721GRCh37Chr 13, 32913457: 32913457
224BRCA2NM_000059.3(BRCA2): c.5000C> G (p.Ser1667Ter)single nucleotide variantPathogenicrs397507346GRCh37Chr 13, 32913492: 32913492
225BRCA2NM_000059.3(BRCA2): c.5035delA (p.Thr1679Leufs)deletionPathogenicrs80359477GRCh37Chr 13, 32913527: 32913527
226BRCA2NM_000059.3(BRCA2): c.5042_5043delTG (p.Val1681Glufs)deletionPathogenicrs80359478GRCh37Chr 13, 32913534: 32913535
227BRCA2NM_000059.3(BRCA2): c.5073dupA (p.Trp1692Metfs)duplicationPathogenicrs80359480GRCh37Chr 13, 32913565: 32913565
228BRCA2NM_000059.3(BRCA2): c.5080A> T (p.Arg1694Ter)single nucleotide variantPathogenicrs200265692GRCh37Chr 13, 32913572: 32913572
229BRCA2NM_000059.3(BRCA2): c.518delG (p.Gly173Valfs)deletionPathogenicrs80359492GRCh37Chr 13, 32900637: 32900637
230BRCA2NM_000059.3(BRCA2): c.5213_5216delCTTA (p.Thr1738Ilefs)deletionPathogenicrs80359493GRCh37Chr 13, 32913705: 32913708
231BRCA2NM_000059.3(BRCA2): c.5229_5231delTAG (p.Ser1744del)deletionPathogenicrs397507349GRCh37Chr 13, 32913721: 32913723
232BRCA2NM_000059.3(BRCA2): c.5238dupT (p.Asn1747Terfs)duplicationPathogenicrs80359499GRCh37Chr 13, 32913730: 32913730
233BRCA2NM_000059.3(BRCA2): c.5266_5269delGTAT (p.Val1756Ilefs)deletionPathogenicrs80359501GRCh37Chr 13, 32913758: 32913761
234BRCA2NM_000059.3(BRCA2): c.5290_5291delTC (p.Ser1764Lysfs)deletionPathogenicrs80359503GRCh37Chr 13, 32913782: 32913783
235BRCA2NM_000059.3(BRCA2): c.5303_5304delTT (p.Leu1768Argfs)deletionPathogenicrs80359505GRCh37Chr 13, 32913795: 32913796
236BRCA2NM_000059.3(BRCA2): c.5350_5351delAA (p.Asn1784Hisfs)deletionPathogenicrs80359507GRCh37Chr 13, 32913842: 32913843
237BRCA2NM_000059.3(BRCA2): c.5351dupA (p.Asn1784Lysfs)duplicationPathogenicrs80359508GRCh37Chr 13, 32913843: 32913843
238BRCA2NM_000059.3(BRCA2): c.5351delA (p.Asn1784Thrfs)deletionPathogenicrs80359509GRCh37Chr 13, 32913843: 32913843
239BRCA2NM_000059.3(BRCA2): c.539_540insAT (p.Ser181Phefs)insertionPathogenicrs80359511GRCh37Chr 13, 32900658: 32900659
240BRCA2NM_000059.3(BRCA2): c.5410_5411delGT (p.Val1804Lysfs)deletionPathogenicrs80359512GRCh37Chr 13, 32913902: 32913903
241BRCA2NM_000059.3(BRCA2): c.5436delA (p.Glu1812Aspfs)deletionPathogenicrs397507351GRCh37Chr 13, 32913928: 32913928
242BRCA2NM_000059.3(BRCA2): c.5471dupA (p.Asn1824Lysfs)duplicationPathogenicrs80359515GRCh37Chr 13, 32913963: 32913963
243BRCA2NM_000059.3(BRCA2): c.5498delA (p.Asn1833Ilefs)deletionPathogenicrs397507353GRCh37Chr 13, 32913990: 32913990
244BRCA2NM_000059.3(BRCA2): c.5576_5579delTTAA (p.Ile1859Lysfs)deletionPathogenicrs80359521GRCh37Chr 13, 32914068: 32914071
245BRCA2NM_000059.3(BRCA2): c.5577delT (p.Val1862Terfs)deletionPathogenicrs397507355GRCh37Chr 13, 32914069: 32914069
246BRCA2NM_000059.3(BRCA2): c.5595_5596delAT (p.Phe1866Tyrfs)deletionPathogenicrs80359524GRCh37Chr 13, 32914087: 32914088
247BRCA2NM_000059.3(BRCA2): c.5603_5606delACAG (p.Asp1868Valfs)deletionPathogenicrs397507356GRCh37Chr 13, 32914095: 32914098
248BRCA2NM_000059.3(BRCA2): c.5614A> T (p.Lys1872Ter)single nucleotide variantPathogenicrs80358783GRCh37Chr 13, 32914106: 32914106
249BRCA2NM_000059.3(BRCA2): c.5621_5624delTTAA (p.Ile1874Argfs)deletionPathogenicrs80359526GRCh37Chr 13, 32914113: 32914116
250BRCA2NM_000059.3(BRCA2): c.5631delC (p.Asn1877Lysfs)deletionPathogenicrs397507357GRCh37Chr 13, 32914123: 32914123
251BRCA2NM_000059.3(BRCA2): c.5645C> A (p.Ser1882Ter)single nucleotide variantPathogenicrs80358785GRCh37Chr 13, 32914137: 32914137
252BRCA2NM_000059.3(BRCA2): c.5655C> A (p.Cys1885Ter)single nucleotide variantPathogenicrs80358789GRCh37Chr 13, 32914147: 32914147
253BRCA2NM_000059.3(BRCA2): c.5681dupA (p.Tyr1894Terfs)duplicationPathogenicrs80359527GRCh37Chr 13, 32914173: 32914173
254BRCA2NM_000059.3(BRCA2): c.5682C> G (p.Tyr1894Ter)single nucleotide variantPathogenicrs41293497GRCh37Chr 13, 32914174: 32914174
255BRCA2NM_000059.3(BRCA2): c.574_575delAT (p.Met192Valfs)deletionPathogenicrs80359533GRCh37Chr 13, 32900693: 32900694
256BRCA2NM_000059.3(BRCA2): c.5782G> T (p.Glu1928Ter)single nucleotide variantPathogenicrs56253082GRCh37Chr 13, 32914274: 32914274
257BRCA2NM_000059.3(BRCA2): c.5799_5802delCCAA (p.Asn1933Lysfs)deletionPathogenicrs80359538GRCh37Chr 13, 32914291: 32914294
258BRCA2NM_000059.3(BRCA2): c.5828delC (p.Ser1943Leufs)deletionPathogenicrs80359541GRCh37Chr 13, 32914320: 32914320
259BRCA2NM_000059.3(BRCA2): c.582G> A (p.Trp194Ter)single nucleotide variantPathogenicrs80358810GRCh37Chr 13, 32900701: 32900701
260BRCA2NM_000059.3(BRCA2): c.5851_5854delAGTT (p.Ser1951Trpfs)deletionPathogenicrs80359544GRCh37Chr 13, 32914343: 32914346
261BRCA2NM_000059.3(BRCA2): c.5855T> A (p.Leu1952Ter)single nucleotide variantPathogenicrs375064902GRCh37Chr 13, 32914347: 32914347
262BRCA2NM_000059.3(BRCA2): c.5909C> A (p.Ser1970Ter)single nucleotide variantPathogenicrs80358824GRCh37Chr 13, 32914401: 32914401
263BRCA2NM_000059.3(BRCA2): c.5980C> T (p.Gln1994Ter)single nucleotide variantPathogenicrs80358831GRCh37Chr 13, 32914472: 32914472
264BRCA2NM_000059.3(BRCA2): c.6011_6017delAAGATAG (p.Glu2004Valfs)deletionPathogenicrs397507362GRCh37Chr 13, 32914503: 32914509
265BRCA2NM_000059.3(BRCA2): c.6024dupG (p.Gln2009Alafs)duplicationPathogenicrs80359554GRCh37Chr 13, 32914516: 32914516
266BRCA2NM_000059.3(BRCA2): c.6037A> T (p.Lys2013Ter)single nucleotide variantPathogenicrs80358840GRCh37Chr 13, 32914529: 32914529
267BRCA2NM_000059.3(BRCA2): c.6206T> G (p.Leu2069Ter)single nucleotide variantPathogenicrs80358859GRCh37Chr 13, 32914698: 32914698
268BRCA2NM_000059.3(BRCA2): c.6267_6269delGCAinsC (p.Glu2089Aspfs)indelPathogenicrs276174868GRCh37Chr 13, 32914759: 32914761
269BRCA2NM_000059.3(BRCA2): c.631G> C (p.Val211Leu)single nucleotide variantPathogenicrs80358871GRCh37Chr 13, 32900750: 32900750
270BRCA2NM_000059.3(BRCA2): c.6333_6337delGAGAA (p.Arg2112Profs)deletionPathogenicrs397507369GRCh37Chr 13, 32914825: 32914829
271BRCA2NM_000059.3(BRCA2): c.6373dupA (p.Thr2125Asnfs)duplicationPathogenicrs80359577GRCh37Chr 13, 32914865: 32914865
272BRCA2NM_000059.3(BRCA2): c.6405_6409delCTTAA (p.Asn2135Lysfs)deletionPathogenicrs80359585GRCh37Chr 13, 32914897: 32914901
273BRCA2NM_000059.3(BRCA2): c.6434_6441delATAATCAC (p.Asn2145Ilefs)deletionPathogenicrs397507371GRCh37Chr 13, 32914926: 32914933
274BRCA2NM_000059.3(BRCA2): c.6444dupT (p.Ile2149Tyrfs)duplicationPathogenicrs80359590GRCh37Chr 13, 32914936: 32914936
275BRCA2NM_000059.3(BRCA2): c.6468_6469delTC (p.Gln2157Ilefs)deletionPathogenicrs80359597GRCh37Chr 13, 32914960: 32914961
276BRCA2NM_000059.3(BRCA2): c.6486_6489delACAA (p.Lys2162Asnfs)deletionPathogenicrs80359598GRCh37Chr 13, 32914978: 32914981
277BRCA2NM_000059.3(BRCA2): c.6535_6536insA (p.Val2179Aspfs)insertionPathogenicrs80359601GRCh37Chr 13, 32915027: 32915028
278BRCA2NM_000059.3(BRCA2): c.6566dupA (p.Asn2189Lysfs)duplicationPathogenicrs397507373GRCh37Chr 13, 32915058: 32915059
279BRCA2NM_000059.3(BRCA2): c.663T> G (p.Phe221Leu)single nucleotide variantPathogenicrs80358891GRCh37Chr 13, 32903611: 32903611
280BRCA2NM_000059.3(BRCA2): c.6641dupC (p.Tyr2215Leufs)duplicationPathogenicrs80359613GRCh37Chr 13, 32915133: 32915133
281BRCA2NM_000059.3(BRCA2): c.6644_6647delACTC (p.Tyr2215Serfs)deletionPathogenicrs80359616GRCh37Chr 13, 32915136: 32915139
282BRCA2NM_000059.3(BRCA2): c.6724_6725delGA (p.Asp2242Phefs)deletionPathogenicrs397507375GRCh37Chr 13, 32915216: 32915217
283BRCA2NM_000059.3(BRCA2): c.688A> T (p.Lys230Ter)single nucleotide variantPathogenicrs80358913GRCh37Chr 13, 32905062: 32905062
284BRCA2NM_000059.3(BRCA2): c.6941delC (p.Thr2314Lysfs)deletionPathogenicrs80359628GRCh37Chr 13, 32920967: 32920967
285BRCA2NM_000059.3(BRCA2): c.6944_6947delTAAA (p.Ile2315Lysfs)deletionPathogenicrs80359629GRCh37Chr 13, 32920970: 32920973
286BRCA2NM_000059.3(BRCA2): c.6952C> T (p.Arg2318Ter)single nucleotide variantPathogenicrs80358920GRCh37Chr 13, 32920978: 32920978
287BRCA2NM_000059.3(BRCA2): c.7007G> A (p.Arg2336His)single nucleotide variantLikely pathogenicrs28897743GRCh37Chr 13, 32921033: 32921033
288BRCA2NM_000059.3(BRCA2): c.700delT (p.Ser234Profs)deletionPathogenicrs80359633GRCh37Chr 13, 32905074: 32905074
289BRCA2NM_000059.3(BRCA2): c.7069_7070delCT (p.Leu2357Valfs)deletionPathogenicrs80359636GRCh37Chr 13, 32929059: 32929060
290BRCA2NM_000059.3(BRCA2): c.7133C> G (p.Ser2378Ter)single nucleotide variantPathogenicrs276174889GRCh37Chr 13, 32929123: 32929123
291BRCA2NM_000059.3(BRCA2): c.7185_7190delCTTGATinsAG (p.His2395Glnfs)indelPathogenicrs397507383GRCh37Chr 13, 32929175: 32929180
292BRCA2NM_000059.3(BRCA2): c.7235C> T (p.Thr2412Ile)single nucleotide variantPathogenicrs397507384GRCh37Chr 13, 32929225: 32929225
293BRCA2NM_000059.3(BRCA2): c.7258G> T (p.Glu2420Ter)single nucleotide variantPathogenicrs397507385GRCh37Chr 13, 32929248: 32929248
294BRCA2NM_000059.3(BRCA2): c.7342_7343delAA (p.Lys2448Aspfs)deletionPathogenicrs397507386GRCh37Chr 13, 32929332: 32929333
295BRCA2NM_000059.3(BRCA2): c.7379_7382delACAA (p.Asn2460Thrfs)deletionPathogenicrs80359648GRCh37Chr 13, 32929369: 32929372
296BRCA2NM_000059.3(BRCA2): c.740_741insAG (p.Ser249Leufs)insertionPathogenicrs397507387GRCh37Chr 13, 32905114: 32905115
297BRCA2NM_000059.3(BRCA2): c.7412_7421delCAAAGTGTGA (p.Thr2471Lysfs)deletionPathogenicrs80359649GRCh37Chr 13, 32929402: 32929411
298BRCA2NM_000059.3(BRCA2): c.7414_7415delAA (p.Lys2472Valfs)deletionPathogenicrs80359650GRCh37Chr 13, 32929404: 32929405
299BRCA2NM_000059.3(BRCA2): c.7419_7420delTG (p.Cys2473Terfs)deletionPathogenicrs80359651GRCh37Chr 13, 32929409: 32929410
300BRCA2NM_000059.3(BRCA2): c.7480C> T (p.Arg2494Ter)single nucleotide variantPathogenicrs80358972GRCh37Chr 13, 32930609: 32930609
301BRCA2NM_000059.3(BRCA2): c.7543dupA (p.Thr2515Asnfs)duplicationPathogenicrs80359657GRCh37Chr 13, 32930672: 32930673
302BRCA2NM_000059.3(BRCA2): c.755_758delACAG (p.Asp252Valfs)deletionPathogenicrs80359659GRCh37Chr 13, 32905129: 32905132
303BRCA2NM_000059.3(BRCA2): c.7567_7568delCT (p.Leu2523Glufs)deletionPathogenicrs80359664GRCh37Chr 13, 32930696: 32930697
304BRCA2NM_000059.3(BRCA2): c.756_757delCA (p.Asp252Glufs)deletionPathogenicrs80359662GRCh37Chr 13, 32905130: 32905131
305BRCA2NM_000059.3(BRCA2): c.7618-1G> Asingle nucleotide variantPathogenicrs397507389GRCh37Chr 13, 32931878: 32931878
306BRCA2NM_000059.3(BRCA2): c.7673_7674delAG (p.Glu2558Valfs)deletionPathogenicrs80359672GRCh37Chr 13, 32931934: 32931935
307BRCA2NM_000059.3(BRCA2): c.7758G> A (p.Trp2586Ter)single nucleotide variantPathogenicrs80359004GRCh37Chr 13, 32932019: 32932019
308BRCA2NM_000059.3(BRCA2): c.778_779delGA (p.Glu260Serfs)deletionPathogenicrs80359680GRCh37Chr 13, 32905152: 32905153
309BRCA2NM_000059.3(BRCA2): c.7857G> A (p.Trp2619Ter)single nucleotide variantPathogenicrs80359011GRCh37Chr 13, 32936711: 32936711
310BRCA2NM_000059.3(BRCA2): c.7868A> G (p.His2623Arg)single nucleotide variantLikely pathogenicrs80359012GRCh37Chr 13, 32936722: 32936722
311BRCA2NM_000059.3(BRCA2): c.7878G> A (p.Trp2626Ter)single nucleotide variantPathogenicrs80359013GRCh37Chr 13, 32936732: 32936732
312BRCA2NM_000059.3(BRCA2): c.7913_7917delTTCCT (p.Phe2638Terfs)deletionPathogenicrs80359687GRCh37Chr 13, 32936767: 32936771
313BRCA2NM_000059.3(BRCA2): c.7963C> T (p.Gln2655Ter)single nucleotide variantPathogenicrs397507395GRCh37Chr 13, 32936817: 32936817
314BRCA2NM_000059.3(BRCA2): c.7974C> G (p.Tyr2658Ter)single nucleotide variantPathogenicrs80359025GRCh37Chr 13, 32936828: 32936828
315BRCA2NM_000059.3(BRCA2): c.7976G> A (p.Arg2659Lys)single nucleotide variantPathogenicrs80359027GRCh37Chr 13, 32936830: 32936830
316BRCA2NM_000059.3(BRCA2): c.7977-1G> Csingle nucleotide variantPathogenicrs81002874GRCh37Chr 13, 32937315: 32937315
317BRCA2NM_000059.3(BRCA2): c.8168A> G (p.Asp2723Gly)single nucleotide variantPathogenicrs41293513GRCh37Chr 13, 32937507: 32937507
318BRCA2NM_000059.3(BRCA2): c.8205_8206delCC (p.Leu2737Serfs)deletionPathogenicrs397507396GRCh37Chr 13, 32937544: 32937545
319BRCA2NM_000059.3(BRCA2): c.8253dupT (p.Ile2752Tyrfs)duplicationPathogenicrs80359704GRCh37Chr 13, 32937592: 32937593
320BRCA2NM_000059.3(BRCA2): c.826_830delGTAAA (p.Val276Terfs)deletionPathogenicrs397507400GRCh37Chr 13, 32906441: 32906445
321BRCA2NM_000059.3(BRCA2): c.8297delC (p.Thr2766Asnfs)deletionPathogenicrs80359705GRCh37Chr 13, 32937636: 32937636
322BRCA2NM_000059.3(BRCA2): c.8322dupT (p.Met2775Tyrfs)duplicationPathogenicrs80359706GRCh37Chr 13, 32937661: 32937661
323BRCA2NM_000059.3(BRCA2): c.8331+1G> Asingle nucleotide variantPathogenicrs81002837GRCh37Chr 13, 32937671: 32937671
324BRCA2NM_000059.3(BRCA2): c.8414_8416delTATinsC (p.Leu2805Serfs)indelPathogenicrs397507402GRCh37Chr 13, 32944621: 32944623
325BRCA2NM_000059.3(BRCA2): c.8487+1G> Tsingle nucleotide variantPathogenicrs81002798GRCh37Chr 13, 32944695: 32944695
326BRCA2NM_000059.3(BRCA2): c.8488-1G> Asingle nucleotide variantLikely pathogenicrs397507404GRCh37Chr 13, 32945092: 32945092
327BRCA2NM_000059.3(BRCA2): c.8501delC (p.Thr2834Asnfs)deletionPathogenicrs80359712GRCh37Chr 13, 32945106: 32945106
328BRCA2NM_000059.3(BRCA2): c.8548_8551delGAAG (p.Glu2850Glnfs)deletionPathogenicrs397507406GRCh37Chr 13, 32945153: 32945156
329BRCA2NM_000059.3(BRCA2): c.8575delC (p.Gln2859Lysfs)deletionPathogenicrs80359718GRCh37Chr 13, 32945180: 32945180
330BRCA2NM_000059.3(BRCA2): c.8585dupT (p.Glu2863Argfs)duplicationPathogenicrs80359720GRCh37Chr 13, 32945190: 32945190
331BRCA2NM_000059.3(BRCA2): c.8633-2A> Gsingle nucleotide variantPathogenicrs81002886GRCh37Chr 13, 32950805: 32950805
332BRCA2NM_000059.3(BRCA2): c.8677C> T (p.Gln2893Ter)single nucleotide variantPathogenicrs397507409GRCh37Chr 13, 32950851: 32950851
333BRCA2NM_000059.3(BRCA2): c.8680delC (p.Gln2894Lysfs)deletionPathogenicrs397507410GRCh37Chr 13, 32950854: 32950854
334BRCA2NM_000059.3(BRCA2): c.8695C> T (p.Gln2899Ter)single nucleotide variantPathogenicrs397507411GRCh37Chr 13, 32950869: 32950869
335BRCA2NM_000059.3(BRCA2): c.8754+2T> Gsingle nucleotide variantPathogenicrs397507412GRCh37Chr 13, 32950930: 32950930
336BRCA2NM_000059.3(BRCA2): c.8754+5G> Asingle nucleotide variantPathogenicrs81002813GRCh37Chr 13, 32950933: 32950933
337BRCA2NM_000059.3(BRCA2): c.8755-1G> Asingle nucleotide variantLikely pathogenicrs81002812GRCh37Chr 13, 32953453: 32953453
338BRCA2NM_000059.3(BRCA2): c.8869C> T (p.Gln2957Ter)single nucleotide variantPathogenicrs276174913GRCh37Chr 13, 32953568: 32953568
339BRCA2NM_000059.3(BRCA2): c.8904delC (p.Val2969Cysfs)deletionPathogenicrs80359730GRCh37Chr 13, 32953603: 32953603
340BRCA2NM_000059.3(BRCA2): c.8940dupA (p.Glu2981Argfs)duplicationPathogenicrs80359732GRCh37Chr 13, 32953639: 32953640
341BRCA2NM_000059.3(BRCA2): c.8946dupA (p.Asp2983Argfs)duplicationPathogenicrs80359733GRCh37Chr 13, 32953645: 32953646
342BRCA2NM_000059.3(BRCA2): c.8951C> G (p.Ser2984Ter)single nucleotide variantPathogenicrs80359146GRCh37Chr 13, 32953650: 32953650
343BRCA2NM_000059.3(BRCA2): c.8953+1G> Tsingle nucleotide variantPathogenicrs81002882GRCh37Chr 13, 32953653: 32953653
344BRCA2NM_000059.3(BRCA2): c.9004G> A (p.Glu3002Lys)single nucleotide variantLikely pathogenic, Pathogenicrs80359152GRCh37Chr 13, 32953937: 32953937
345BRCA2NM_000059.3(BRCA2): c.9026_9030delATCAT (p.Tyr3009Serfs)deletionPathogenicrs80359741GRCh37Chr 13, 32953959: 32953963
346BRCA2NM_000059.3(BRCA2): c.9060_9061insTT (p.Glu3021Leufs)insertionPathogenicrs397507418GRCh37Chr 13, 32953993: 32953994
347BRCA2NM_000059.3(BRCA2): c.9076C> T (p.Gln3026Ter)single nucleotide variantPathogenicrs80359159GRCh37Chr 13, 32954009: 32954009
348BRCA2NM_000059.3(BRCA2): c.9097dupA (p.Thr3033Asnfs)duplicationPathogenicrs397507419GRCh37Chr 13, 32954030: 32954031
349BRCA2NM_000059.3(BRCA2): c.9097delA (p.Thr3033Leufs)deletionPathogenicrs397507420GRCh37Chr 13, 32954030: 32954030
350BRCA2NM_000059.3(BRCA2): c.9117G> A (p.Pro3039=)single nucleotide variantLikely pathogenicrs28897756GRCh37Chr 13, 32954050: 32954050
351BRCA2NM_000059.3(BRCA2): c.9235delG (p.Val3079Phefs)deletionPathogenicrs397507422GRCh37Chr 13, 32954261: 32954261
352BRCA2NM_000059.3(BRCA2): c.9253dupA (p.Thr3085Asnfs)duplicationPathogenicrs80359752GRCh37Chr 13, 32954279: 32954279
353BRCA2NM_000059.3(BRCA2): c.9274delT (p.Tyr3092Ilefs)deletionPathogenicrs397507424GRCh37Chr 13, 32968843: 32968843
354BRCA2NM_000059.3(BRCA2): c.9294C> A (p.Tyr3098Ter)single nucleotide variantPathogenicrs80359200GRCh37Chr 13, 32968863: 32968863
355BRCA2NM_000059.3(BRCA2): c.9294C> G (p.Tyr3098Ter)single nucleotide variantPathogenicrs80359200GRCh37Chr 13, 32968863: 32968863
356BRCA2NM_000059.3(BRCA2): c.9371A> T (p.Asn3124Ile)single nucleotide variantPathogenicrs28897759GRCh37Chr 13, 32968940: 32968940
357BRCA2NM_000059.3(BRCA2): c.9380G> A (p.Trp3127Ter)single nucleotide variantPathogenicrs80359211GRCh37Chr 13, 32968949: 32968949
358BRCA2NM_000059.3(BRCA2): c.9401delG (p.Gly3134Alafs)deletionPathogenicrs80359759GRCh37Chr 13, 32968970: 32968970
359BRCA2NM_000059.3(BRCA2): c.9435_9436delGT (p.Ser3147Cysfs)deletionPathogenicrs80359763GRCh37Chr 13, 32969004: 32969005
360BRCA2NM_000059.3(BRCA2): c.9523G> T (p.Glu3175Ter)single nucleotide variantPathogenicrs397507430GRCh37Chr 13, 32971056: 32971056
361BRCA2NM_000059.3(BRCA2): c.9580_9581delCC (p.Pro3194Asnfs)deletionPathogenicrs80359771GRCh37Chr 13, 32971113: 32971114
362BRCA2NM_000059.3(BRCA2): c.9599C> G (p.Ser3200Ter)single nucleotide variantPathogenicrs80359230GRCh37Chr 13, 32971132: 32971132
363BRCA2NM_000059.3(BRCA2): c.9699_9702delTATG (p.Cys3233Trpfs)deletionLikely pathogenicrs80359775GRCh37Chr 13, 32972349: 32972352
364BRCA2NM_000059.3(BRCA2): c.998dupT (p.His334Profs)duplicationPathogenicrs397507437GRCh37Chr 13, 32906613: 32906614
365BRCA2NM_000059.3(BRCA2): c.5482_5486delAAATT (p.Lys1828Valfs)deletionPathogenicrs80359516GRCh37Chr 13, 32913974: 32913978
366BRCA2NM_000059.3(BRCA2): c.100G> T (p.Glu34Ter)single nucleotide variantPathogenicrs80358391GRCh37Chr 13, 32893246: 32893246
367BRCA2NM_000059.3(BRCA2): c.1103C> A (p.Ser368Ter)single nucleotide variantPathogenicrs80358407GRCh37Chr 13, 32906718: 32906718
368BRCA2NM_000059.3(BRCA2): c.1128delT (p.Phe376Leufs)deletionPathogenicrs80359263GRCh37Chr 13, 32906743: 32906743
369BRCA2NM_000059.3(BRCA2): c.1138delA (p.Ser380Valfs)deletionPathogenicrs80359264GRCh37Chr 13, 32906753: 32906753
370BRCA2NM_000059.3(BRCA2): c.1147delA (p.Ile383Serfs)deletionPathogenicrs80359265GRCh37Chr 13, 32906762: 32906762
371BRCA2NM_000059.3(BRCA2): c.1153A> T (p.Lys385Ter)single nucleotide variantPathogenicrs80358411GRCh37Chr 13, 32906768: 32906768
372BRCA2NM_000059.3(BRCA2): c.1202C> G (p.Ser401Ter)single nucleotide variantPathogenicrs80358413GRCh37Chr 13, 32906817: 32906817
373BRCA2NM_000059.3(BRCA2): c.1219delC (p.Gln407Argfs)deletionPathogenicrs80359267GRCh37Chr 13, 32906834: 32906834
374BRCA2NM_000059.3(BRCA2): c.1225delG (p.Glu409Argfs)deletionPathogenicrs80359268GRCh37Chr 13, 32906840: 32906840
375BRCA2NM_000059.3(BRCA2): c.1233dupA (p.Pro412Thrfs)duplicationPathogenicrs80359270GRCh37Chr 13, 32906848: 32906849
376BRCA2NM_000059.3(BRCA2): c.1261C> T (p.Gln421Ter)single nucleotide variantPathogenicrs80358419GRCh37Chr 13, 32906876: 32906876
377BRCA2NM_000059.3(BRCA2): c.1278delA (p.Asp427Thrfs)deletionPathogenicrs80359274GRCh37Chr 13, 32906893: 32906893
378BRCA2NM_000059.3(BRCA2): c.128delA (p.Asn43Ilefs)deletionPathogenicrs80359275GRCh37Chr 13, 32893274: 32893274
379BRCA2NM_000059.3(BRCA2): c.1307delA (p.Lys436Argfs)deletionPathogenicrs80359278GRCh37Chr 13, 32906922: 32906922
380BRCA2NM_000059.3(BRCA2): c.1389_1390delAG (p.Val464Glyfs)deletionPathogenicrs80359283GRCh37Chr 13, 32907004: 32907005
381BRCA2NM_000059.3(BRCA2): c.1399A> T (p.Lys467Ter)single nucleotide variantPathogenicrs80358427GRCh37Chr 13, 32907014: 32907014
382BRCA2NM_000059.3(BRCA2): c.1411G> T (p.Glu471Ter)single nucleotide variantPathogenicrs80358428GRCh37Chr 13, 32907026: 32907026
383BRCA2NM_000059.3(BRCA2): c.1414C> T (p.Gln472Ter)single nucleotide variantPathogenicrs80358429GRCh37Chr 13, 32907029: 32907029
384BRCA2NM_000059.3(BRCA2): c.1456C> T (p.Gln486Ter)single nucleotide variantPathogenicrs80358434GRCh37Chr 13, 32907071: 32907071
385BRCA2NM_000059.3(BRCA2): c.145G> T (p.Glu49Ter)single nucleotide variantPathogenicrs80358435GRCh37Chr 13, 32893291: 32893291
386BRCA2NM_000059.3(BRCA2): c.1496_1497delAG (p.Gln499Argfs)deletionPathogenicrs80359285GRCh37Chr 13, 32907111: 32907112
387BRCA2NM_000059.3(BRCA2): c.1499delG (p.Gly500Valfs)deletionPathogenicrs397507591GRCh37Chr 13, 32907114: 32907114
388BRCA2NM_000059.3(BRCA2): c.1511_1512delCT (p.Ser504Tyrfs)deletionPathogenicrs80359286GRCh37Chr 13, 32907126: 32907127
389BRCA2NM_000059.3(BRCA2): c.151delG (p.Glu51Asnfs)deletionPathogenicrs80359287GRCh37Chr 13, 32893297: 32893297
390BRCA2NM_000059.3(BRCA2): c.1528G> T (p.Glu510Ter)single nucleotide variantPathogenicrs80358438GRCh37Chr 13, 32907143: 32907143
391BRCA2NM_000059.3(BRCA2): c.1547delT (p.Phe516Serfs)deletionPathogenicrs80359289GRCh37Chr 13, 32907162: 32907162
392BRCA2NM_000059.3(BRCA2): c.1595_1599delAAACT (p.Glu532Glyfs)deletionPathogenicrs80359291GRCh37Chr 13, 32907210: 32907214
393BRCA2NM_000059.3(BRCA2): c.1597delA (p.Thr533Leufs)deletionPathogenicrs80359292GRCh37Chr 13, 32907212: 32907212
394BRCA2NM_000059.3(BRCA2): c.1599_1600delTG (p.Glu534Serfs)deletionPathogenicrs80359293GRCh37Chr 13, 32907214: 32907215
395BRCA2NM_000059.3(BRCA2): c.1617delA (p.Leu540Trpfs)deletionPathogenicrs80359294GRCh37Chr 13, 32907232: 32907232
396BRCA2NM_000059.3(BRCA2): c.1631_1632delCT (p.Thr544Serfs)deletionPathogenicrs80359295GRCh37Chr 13, 32907246: 32907247
397BRCA2NM_000059.3(BRCA2): c.1654delT (p.Ser552Profs)deletionPathogenicrs80359297GRCh37Chr 13, 32907269: 32907269
398BRCA2NM_000059.3(BRCA2): c.1670T> G (p.Leu557Ter)single nucleotide variantPathogenicrs80358452GRCh37Chr 13, 32907285: 32907285
399BRCA2NM_000059.3(BRCA2): c.1681G> T (p.Gly561Ter)single nucleotide variantPathogenicrs80358455GRCh37Chr 13, 32907296: 32907296
400BRCA2NM_000059.3(BRCA2): c.1689G> A (p.Trp563Ter)single nucleotide variantPathogenicrs80358456GRCh37Chr 13, 32907304: 32907304
401BRCA2NM_000059.3(BRCA2): c.1705delC (p.Gln569Argfs)deletionPathogenicrs80359300GRCh37Chr 13, 32907320: 32907320
402BRCA2NM_000059.3(BRCA2): c.170dupA (p.Tyr57Terfs)duplicationPathogenicrs80359299GRCh37Chr 13, 32893316: 32893317
403BRCA2NM_000059.3(BRCA2): c.1754delA (p.Lys585Argfs)deletionPathogenicrs80359301GRCh37Chr 13, 32907369: 32907369
404BRCA2NM_000059.3(BRCA2): c.1763_1766delATAA (p.Asn588Serfs)deletionPathogenicrs80359303GRCh37Chr 13, 32907378: 32907381
405BRCA2NM_000059.3(BRCA2): c.1773_1776delTTAT (p.Ile591Metfs)deletionPathogenicrs80359305GRCh37Chr 13, 32907388: 32907391
406BRCA2NM_000059.3(BRCA2): c.1789G> T (p.Glu597Ter)single nucleotide variantPathogenicrs80358461GRCh37Chr 13, 32907404: 32907404
407BRCA2NM_000059.3(BRCA2): c.17_18delAA (p.Lys6Argfs)deletionPathogenicrs80359298GRCh37Chr 13, 32890614: 32890615
408BRCA2NM_000059.3(BRCA2): c.1800T> G (p.Tyr600Ter)single nucleotide variantPathogenicrs80358464GRCh37Chr 13, 32907415: 32907415
409BRCA2NM_000059.3(BRCA2): c.1815dupA (p.Pro606Thrfs)duplicationPathogenicrs80359310GRCh37Chr 13, 32907430: 32907431
410BRCA2NM_000059.3(BRCA2): c.1825C> T (p.Gln609Ter)single nucleotide variantPathogenicrs80358472GRCh37Chr 13, 32907440: 32907440
411BRCA2NM_000059.3(BRCA2): c.1831delT (p.Ser611Glnfs)deletionPathogenicrs80359311GRCh37Chr 13, 32907446: 32907446
412BRCA2NM_000059.3(BRCA2): c.1842dupT (p.Asn615Terfs)duplicationPathogenicrs80359312GRCh37Chr 13, 32907457: 32907458
413BRCA2NM_000059.3(BRCA2): c.1854delCinsAA (p.Gln619Thrfs)indelPathogenicrs276174815GRCh37Chr 13, 32907469: 32907469
414BRCA2NM_000059.3(BRCA2): c.1855C> T (p.Gln619Ter)single nucleotide variantPathogenicrs80358476GRCh37Chr 13, 32907470: 32907470
415BRCA2NM_000059.3(BRCA2): c.1888dupA (p.Thr630Asnfs)duplicationPathogenicrs80359314GRCh37Chr 13, 32907503: 32907504
416BRCA2NM_000059.3(BRCA2): c.1889delC (p.Thr630Asnfs)deletionPathogenicrs80359315GRCh37Chr 13, 32907504: 32907504
417BRCA2NM_000059.3(BRCA2): c.2026delT (p.Cys676Valfs)deletionPathogenicrs80359317GRCh37Chr 13, 32910518: 32910518
418BRCA2NM_000059.3(BRCA2): c.204delA (p.Lys68Asnfs)deletionPathogenicrs80359320GRCh37Chr 13, 32893350: 32893350
419BRCA2NM_000059.3(BRCA2): c.2064T> G (p.Tyr688Ter)single nucleotide variantPathogenicrs80358485GRCh37Chr 13, 32910556: 32910556
420BRCA2NM_000059.3(BRCA2): c.2084_2088delAGGAA (p.Glu696Thrfs)deletionPathogenicrs80359321GRCh37Chr 13, 32910576: 32910580
421BRCA2NM_000059.3(BRCA2): c.2094delA (p.Gln699Serfs)deletionPathogenicrs80359323GRCh37Chr 13, 32910586: 32910586
422BRCA2NM_000059.3(BRCA2): c.2103_2106delTATT (p.Phe701Leufs)deletionPathogenicrs80359324GRCh37Chr 13, 32910595: 32910598
423BRCA2NM_000059.3(BRCA2): c.2224C> T (p.Gln742Ter)single nucleotide variantPathogenicrs80358494GRCh37Chr 13, 32910716: 32910716
424BRCA2NM_000059.3(BRCA2): c.2254_2257delGACT (p.Asp752Phefs)deletionPathogenicrs80359326GRCh37Chr 13, 32910746: 32910749
425BRCA2NM_000059.3(BRCA2): c.227C> G (p.Ser76Ter)single nucleotide variantPathogenicrs80358498GRCh37Chr 13, 32893373: 32893373
426BRCA2NM_000059.3(BRCA2): c.2287delC (p.His763Metfs)deletionPathogenicrs80359327GRCh37Chr 13, 32910779: 32910779
427BRCA2NM_000059.3(BRCA2): c.22_23delAG (p.Arg8Alafs)deletionPathogenicrs397507623GRCh37Chr 13, 32890619: 32890620
428BRCA2NM_000059.3(BRCA2): c.2376C> A (p.Tyr792Ter)single nucleotide variantPathogenicrs80358503GRCh37Chr 13, 32910868: 32910868
429BRCA2NM_000059.3(BRCA2): c.2435delA (p.Asn812Ilefs)deletionPathogenicrs80359329GRCh37Chr 13, 32910927: 32910927
430BRCA2NM_000059.3(BRCA2): c.2446delG (p.Glu816Lysfs)deletionPathogenicrs80359330GRCh37Chr 13, 32910938: 32910938
431BRCA2NM_000059.3(BRCA2): c.2450delA (p.Lys817Argfs)deletionPathogenicrs80359331GRCh37Chr 13, 32910942: 32910942
432BRCA2NM_000059.3(BRCA2): c.2471_2476delTAAATG (p.Leu824Ter)deletionPathogenicrs276174823GRCh37Chr 13, 32910963: 32910968
433BRCA2NM_000059.3(BRCA2): c.250C> T (p.Gln84Ter)single nucleotide variantPathogenicrs80358515GRCh37Chr 13, 32893396: 32893396
434BRCA2NM_000059.3(BRCA2): c.2517C> A (p.Tyr839Ter)single nucleotide variantPathogenicrs80358516GRCh37Chr 13, 32911009: 32911009
435BRCA2NM_000059.3(BRCA2): c.2537C> G (p.Ser846Ter)single nucleotide variantPathogenicrs80358518GRCh37Chr 13, 32911029: 32911029
436BRCA2NM_000059.3(BRCA2): c.2545delG (p.Val849Tyrfs)deletionPathogenicrs80359333GRCh37Chr 13, 32911037: 32911037
437BRCA2NM_000059.3(BRCA2): c.2564_2565delCA (p.Thr855Lysfs)deletionPathogenicrs80359334GRCh37Chr 13, 32911056: 32911057
438BRCA2NM_000059.3(BRCA2): c.2586_2592delAAATCAA (p.Asn863Lysfs)deletionPathogenicrs80359337GRCh37Chr 13, 32911078: 32911084
439BRCA2NM_000059.3(BRCA2): c.2603delC (p.Thr868Ilefs)deletionPathogenicrs276174824GRCh37Chr 13, 32911095: 32911095
440BRCA2NM_000059.3(BRCA2): c.2612C> A (p.Ser871Ter)single nucleotide variantPathogenicrs397507634GRCh37Chr 13, 32911104: 32911104
441BRCA2NM_000059.3(BRCA2): c.262_263delCT (p.Leu88Alafs)deletionPathogenicrs276174825GRCh37Chr 13, 32893408: 32893409
442BRCA2NM_000059.3(BRCA2): c.2636_2637delCT (p.Ser879Terfs)deletionPathogenicrs276174826GRCh37Chr 13, 32911128: 32911129
443BRCA2NM_000059.3(BRCA2): c.263delT (p.Leu88Argfs)deletionPathogenicrs80359339GRCh37Chr 13, 32893409: 32893409
444BRCA2NM_000059.3(BRCA2): c.2653_2656delGACA (p.Asp885Metfs)deletionPathogenicrs80359340GRCh37Chr 13, 32911145: 32911148
445BRCA2NM_000059.3(BRCA2): c.266delC (p.Pro89Argfs)deletionPathogenicrs80359341GRCh37Chr 13, 32893412: 32893412
446BRCA2NM_000059.3(BRCA2): c.2684delC (p.Ala895Valfs)deletionPathogenicrs80359342GRCh37Chr 13, 32911176: 32911176
447BRCA2NM_000059.3(BRCA2): c.26delC (p.Pro9Glnfs)deletionPathogenicrs80359343GRCh37Chr 13, 32890623: 32890623
448BRCA2NM_000059.3(BRCA2): c.2731delG (p.Glu911Lysfs)deletionPathogenicrs80359344GRCh37Chr 13, 32911223: 32911223
449BRCA2NM_000059.3(BRCA2): c.2760delC (p.Ile921Phefs)deletionPathogenicrs80359346GRCh37Chr 13, 32911252: 32911252
450BRCA2NM_000059.3(BRCA2): c.276dupA (p.Ser93Ilefs)duplicationPathogenicrs80359345GRCh37Chr 13, 32893422: 32893423
451BRCA2NM_000059.3(BRCA2): c.2786dupT (p.Leu929Phefs)duplicationPathogenicrs80359347GRCh37Chr 13, 32911278: 32911279
452BRCA2NM_000059.3(BRCA2): c.2798_2799delCA (p.Thr933Argfs)deletionPathogenicrs80359348GRCh37Chr 13, 32911290: 32911291
453BRCA2NM_000059.3(BRCA2): c.2798delC (p.Thr933Lysfs)deletionPathogenicrs80359349GRCh37Chr 13, 32911290: 32911290
454BRCA2NM_000059.3(BRCA2): c.2805_2808delTAAA (p.Ala938Profs)deletionPathogenicrs80359350GRCh37Chr 13, 32911297: 32911300
455BRCA2NM_000059.3(BRCA2): c.2810_2811delAA (p.Gln937Argfs)deletionPathogenicrs80359353GRCh37Chr 13, 32911302: 32911303
456BRCA2NM_000059.3(BRCA2): c.2812_2815delGCAA (p.Ala938Profs)deletionPathogenicrs80359354GRCh37Chr 13, 32911304: 32911307
457BRCA2NM_000059.3(BRCA2): c.2830A> T (p.Lys944Ter)single nucleotide variantPathogenicrs80358533GRCh37Chr 13, 32911322: 32911322
458BRCA2NM_000059.3(BRCA2): c.2836_2837delGA (p.Asp946Phefs)deletionPathogenicrs80359357GRCh37Chr 13, 32911328: 32911329
459BRCA2NM_000059.3(BRCA2): c.2836delG (p.Asp946Ilefs)deletionPathogenicrs80359358GRCh37Chr 13, 32911328: 32911328
460BRCA2NM_000059.3(BRCA2): c.2881C> T (p.Gln961Ter)single nucleotide variantPathogenicrs80358538GRCh37Chr 13, 32911373: 32911373
461BRCA2NM_000059.3(BRCA2): c.289G> T (p.Glu97Ter)single nucleotide variantPathogenicrs397507646GRCh37Chr 13, 32893435: 32893435
462BRCA2NM_000059.3(BRCA2): c.2957dupA (p.Asn986Lysfs)duplicationPathogenicrs80359365GRCh37Chr 13, 32911449: 32911450
463BRCA2NM_000059.3(BRCA2): c.298A> T (p.Lys100Ter)single nucleotide variantPathogenicrs80358546GRCh37Chr 13, 32893444: 32893444
464BRCA2NM_000059.3(BRCA2): c.2T> G (p.Met1Arg)single nucleotide variantPathogenicrs80358547GRCh37Chr 13, 32890599: 32890599
465BRCA2NM_000059.3(BRCA2): c.3051delC (p.Lys1018Serfs)deletionPathogenicrs80359367GRCh37Chr 13, 32911543: 32911543
466BRCA2NM_000059.3(BRCA2): c.3068dupA (p.Asn1023Lysfs)duplicationPathogenicrs80359368GRCh37Chr 13, 32911560: 32911561
467BRCA2NM_000059.3(BRCA2): c.3076A> T (p.Lys1026Ter)single nucleotide variantPathogenicrs80358552GRCh37Chr 13, 32911568: 32911568
468BRCA2NM_000059.3(BRCA2): c.3103G> T (p.Glu1035Ter)single nucleotide variantPathogenicrs80358556GRCh37Chr 13, 32911595: 32911595
469BRCA2NM_000059.3(BRCA2): c.3146delA (p.Asn1049Ilefs)deletionPathogenicrs80359370GRCh37Chr 13, 32911638: 32911638
470BRCA2NM_000059.3(BRCA2): c.314T> G (p.Leu105Ter)single nucleotide variantPathogenicrs80358561GRCh37Chr 13, 32893460: 32893460
471BRCA2NM_000059.3(BRCA2): c.316+2T> Csingle nucleotide variantLikely pathogenicrs81002805GRCh37Chr 13, 32893464: 32893464
472BRCA2NM_000059.3(BRCA2): c.316+5G> Asingle nucleotide variantPathogenicrs81002840GRCh37Chr 13, 32893467: 32893467
473BRCA2NM_000059.3(BRCA2): c.3166C> T (p.Gln1056Ter)single nucleotide variantPathogenicrs79728106GRCh37Chr 13, 32911658: 32911658
474BRCA2NM_000059.3(BRCA2): c.3167_3170delAAAA (p.Gln1056Argfs)deletionPathogenicrs80359372GRCh37Chr 13, 32911659: 32911662
475BRCA2NM_000059.3(BRCA2): c.3189_3192delGTCA (p.Ser1064Leufs)deletionPathogenicrs80359374GRCh37Chr 13, 32911681: 32911684
476BRCA2NM_000059.3(BRCA2): c.3195_3198delTAAT (p.Asn1066Leufs)deletionPathogenicrs80359376GRCh37Chr 13, 32911687: 32911690
477BRCA2NM_000059.3(BRCA2): c.3199delA (p.Thr1067Leufs)deletionPathogenicrs80359377GRCh37Chr 13, 32911691: 32911691
478BRCA2NM_000059.3(BRCA2): c.3202delG (p.Val1068Tyrfs)deletionPathogenicrs397507658GRCh37Chr 13, 32911694: 32911694
479BRCA2NM_000059.3(BRCA2): c.3228_3229delAG (p.Val1077Cysfs)deletionPathogenicrs80359378GRCh37Chr 13, 32911720: 32911721
480BRCA2NM_000059.3(BRCA2): c.3262_3263delCC (p.Pro1088Serfs)deletionPathogenicrs80359379GRCh37Chr 13, 32911754: 32911755
481BRCA2NM_000059.3(BRCA2): c.3265C> T (p.Gln1089Ter)single nucleotide variantPathogenicrs80358573GRCh37Chr 13, 32911757: 32911757
482BRCA2NM_000059.3(BRCA2): c.3269delT (p.Met1090Serfs)deletionPathogenicrs80359381GRCh37Chr 13, 32911761: 32911761
483BRCA2NM_000059.3(BRCA2): c.3273_3276delATTT (p.Leu1091Phefs)deletionPathogenicrs80359382GRCh37Chr 13, 32911765: 32911768
484BRCA2NM_000059.3(BRCA2): c.3277delT (p.Ser1093Profs)deletionPathogenicrs276174833GRCh37Chr 13, 32911769: 32911769
485BRCA2NM_000059.3(BRCA2): c.3294delT (p.Ser1099Glnfs)deletionPathogenicrs80359383GRCh37Chr 13, 32911786: 32911786
486BRCA2NM_000059.3(BRCA2): c.3319C> T (p.Gln1107Ter)single nucleotide variantPathogenicrs80358578GRCh37Chr 13, 32911811: 32911811
487BRCA2NM_000059.3(BRCA2): c.3354delA (p.Glu1119Lysfs)deletionPathogenicrs80359384GRCh37Chr 13, 32911846: 32911846
488BRCA2NM_000059.3(BRCA2): c.3362C> G (p.Ser1121Ter)single nucleotide variantPathogenicrs80358579GRCh37Chr 13, 32911854: 32911854
489BRCA2NM_000059.3(BRCA2): c.3381delT (p.Phe1127Leufs)deletionPathogenicrs397507666GRCh37Chr 13, 32911873: 32911873
490BRCA2NM_000059.3(BRCA2): c.3455T> G (p.Leu1152Ter)single nucleotide variantPathogenicrs80358593GRCh37Chr 13, 32911947: 32911947
491BRCA2NM_000059.3(BRCA2): c.3469G> T (p.Glu1157Ter)single nucleotide variantPathogenicrs80358595GRCh37Chr 13, 32911961: 32911961
492BRCA2NM_000059.3(BRCA2): c.3500_3501delTA (p.Ile1167Asnfs)deletionPathogenicrs80359387GRCh37Chr 13, 32911992: 32911993
493BRCA2NM_000059.3(BRCA2): c.3554_3555delCA (p.Thr1185Serfs)deletionPathogenicrs80359389GRCh37Chr 13, 32912046: 32912047
494BRCA2NM_000059.3(BRCA2): c.3570delG (p.Lys1191Serfs)deletionPathogenicrs80359390GRCh37Chr 13, 32912062: 32912062
495BRCA2NM_000059.3(BRCA2): c.3599_3600delGT (p.Cys1200Terfs)deletionPathogenicrs80359392GRCh37Chr 13, 32912091: 32912092
496BRCA2NM_000059.3(BRCA2): c.3638delA (p.Val1214Trpfs)deletionPathogenicrs80359394GRCh37Chr 13, 32912130: 32912130
497BRCA2NM_000059.3(BRCA2): c.3680_3681delTG (p.Leu1227Glnfs)deletionPathogenicrs80359395GRCh37Chr 13, 32912172: 32912173
498BRCA2NM_000059.3(BRCA2): c.3682_3685delAATG (p.Asn1228Phefs)deletionPathogenicrs80359396GRCh37Chr 13, 32912174: 32912177
499BRCA2NM_000059.3(BRCA2): c.3685delG (p.Val1229Phefs)deletionPathogenicrs80359397GRCh37Chr 13, 32912177: 32912177
500BRCA2NM_000059.3(BRCA2): c.36delT (p.Phe12Leufs)deletionPathogenicrs80359399GRCh37Chr 13, 32890633: 32890633
501BRCA2NM_000059.3(BRCA2): c.36dupT (p.Glu13Terfs)duplicationPathogenicrs80359393GRCh37Chr 13, 32890633: 32890634
502BRCA2NM_000059.3(BRCA2): c.3737delA (p.Asn1246Ilefs)deletionPathogenicrs80359402GRCh37Chr 13, 32912229: 32912229
503BRCA2NM_000059.3(BRCA2): c.3748G> T (p.Glu1250Ter)single nucleotide variantPathogenicrs80358615GRCh37Chr 13, 32912240: 32912240
504BRCA2NM_000059.3(BRCA2): c.3785C> G (p.Ser1262Ter)single nucleotide variantPathogenicrs80358620GRCh37Chr 13, 32912277: 32912277
505BRCA2NM_000059.3(BRCA2): c.37G> T (p.Glu13Ter)single nucleotide variantPathogenicrs80358622GRCh37Chr 13, 32890634: 32890634
506BRCA2NM_000059.3(BRCA2): c.3812C> A (p.Ser1271Ter)single nucleotide variantPathogenicrs80358623GRCh37Chr 13, 32912304: 32912304
507BRCA2NM_000059.3(BRCA2): c.3837delT (p.Asn1279Lysfs)deletionPathogenicrs80359404GRCh37Chr 13, 32912329: 32912329
508BRCA2NM_000059.3(BRCA2): c.3859_3860delAA (p.Asn1287Terfs)deletionPathogenicrs80359408GRCh37Chr 13, 32912351: 32912352
509BRCA2NM_000059.3(BRCA2): c.3860_3863delATAA (p.Asn1287Ilefs)deletionPathogenicrs80359410GRCh37Chr 13, 32912352: 32912355
510BRCA2NM_000059.3(BRCA2): c.3860delA (p.Asn1287Ilefs)deletionPathogenicrs80359411GRCh37Chr 13, 32912352: 32912352
511BRCA2NM_000059.3(BRCA2): c.3860dupA (p.Asn1287Lysfs)duplicationPathogenicrs80359409GRCh37Chr 13, 32912352: 32912353
512BRCA2NM_000059.3(BRCA2): c.3871C> T (p.Gln1291Ter)single nucleotide variantPathogenicrs80358631GRCh37Chr 13, 32912363: 32912363
513BRCA2NM_000059.3(BRCA2): c.3881T> A (p.Leu1294Ter)single nucleotide variantPathogenicrs80358632GRCh37Chr 13, 32912373: 32912373
514BRCA2NM_000059.3(BRCA2): c.3911delC (p.Thr1304Ilefs)deletionPathogenicrs80359415GRCh37Chr 13, 32912403: 32912403
515BRCA2NM_000059.3(BRCA2): c.3919delG (p.Glu1307Lysfs)deletionPathogenicrs80359416GRCh37Chr 13, 32912411: 32912411
516BRCA2NM_000059.3(BRCA2): c.3939C> A (p.Tyr1313Ter)single nucleotide variantPathogenicrs80358641GRCh37Chr 13, 32912431: 32912431
517BRCA2NM_000059.3(BRCA2): c.3939delC (p.Tyr1313Terfs)deletionPathogenicrs276174838GRCh37Chr 13, 32912431: 32912431
518BRCA2NM_000059.3(BRCA2): c.3956_3959delATGA (p.Asn1319Lysfs)deletionPathogenicrs80359417GRCh37Chr 13, 32912448: 32912451
519BRCA2NM_000059.3(BRCA2): c.3958G> T (p.Glu1320Ter)single nucleotide variantPathogenicrs80358644GRCh37Chr 13, 32912450: 32912450
520BRCA2NM_000059.3(BRCA2): c.3967A> T (p.Lys1323Ter)single nucleotide variantPathogenicrs80358648GRCh37Chr 13, 32912459: 32912459
521BRCA2NM_000059.3(BRCA2): c.3G> A (p.Met1Ile)single nucleotide variantPathogenicrs80358650GRCh37Chr 13, 32890600: 32890600
522BRCA2NM_000059.3(BRCA2): c.4001T> A (p.Leu1334Ter)single nucleotide variantPathogenicrs80358652GRCh37Chr 13, 32912493: 32912493
523BRCA2NM_000059.3(BRCA2): c.4037_4038delCT (p.Thr1346Serfs)deletionPathogenicrs80359421GRCh37Chr 13, 32912529: 32912530
524BRCA2NM_000059.3(BRCA2): c.4048_4051delCATA (p.His1350Lysfs)deletionPathogenicrs80359423GRCh37Chr 13, 32912540: 32912543
525BRCA2NM_000059.3(BRCA2): c.4076delC (p.Thr1359Metfs)deletionPathogenicrs80359424GRCh37Chr 13, 32912568: 32912568
526BRCA2NM_000059.3(BRCA2): c.4095T> A (p.Cys1365Ter)single nucleotide variantPathogenicrs80358658GRCh37Chr 13, 32912587: 32912587
527BRCA2NM_000059.3(BRCA2): c.410delC (p.Ser137Phefs)deletionPathogenicrs80359427GRCh37Chr 13, 32899306: 32899306
528BRCA2NM_000059.3(BRCA2): c.4111C> T (p.Gln1371Ter)single nucleotide variantPathogenicrs80358659GRCh37Chr 13, 32912603: 32912603
529BRCA2NM_000059.3(BRCA2): c.4130delA (p.Asn1377Thrfs)deletionPathogenicrs80359428GRCh37Chr 13, 32912622: 32912622
530BRCA2NM_000059.3(BRCA2): c.4133_4136delCTCA (p.Thr1378Argfs)deletionPathogenicrs80359430GRCh37Chr 13, 32912625: 32912628
531BRCA2NM_000059.3(BRCA2): c.4137_4141delGATTA (p.Ile1380Argfs)deletionPathogenicrs80359431GRCh37Chr 13, 32912629: 32912633
532BRCA2NM_000059.3(BRCA2): c.4169delT (p.Leu1390Trpfs)deletionPathogenicrs80359433GRCh37Chr 13, 32912661: 32912661
533BRCA2NM_000059.3(BRCA2): c.4188delA (p.Glu1397Lysfs)deletionPathogenicrs80359434GRCh37Chr 13, 32912680: 32912680
534BRCA2NM_000059.3(BRCA2): c.4218_4221delAGAA (p.Lys1406Asnfs)deletionPathogenicrs80359435GRCh37Chr 13, 32912710: 32912713
535BRCA2NM_000059.3(BRCA2): c.4258delG (p.Asp1420Ilefs)deletionPathogenicrs80359436GRCh37Chr 13, 32912750: 32912750
536BRCA2NM_000059.3(BRCA2): c.4271delC (p.Ser1424Leufs)deletionPathogenicrs80359437GRCh37Chr 13, 32912763: 32912763
537BRCA2NM_000059.3(BRCA2): c.4285C> T (p.Gln1429Ter)single nucleotide variantPathogenicrs80358665GRCh37Chr 13, 32912777: 32912777
538BRCA2NM_000059.3(BRCA2): c.4314delC (p.Ala1439Profs)deletionPathogenicrs80359441GRCh37Chr 13, 32912806: 32912806
539BRCA2NM_000059.3(BRCA2): c.4325C> A (p.Ser1442Ter)single nucleotide variantPathogenicrs80358670GRCh37Chr 13, 32912817: 32912817
540BRCA2NM_000059.3(BRCA2): c.4339delG (p.Val1447Terfs)deletionPathogenicrs80359443GRCh37Chr 13, 32912831: 32912831
541BRCA2NM_000059.3(BRCA2): c.4398_4402delACATT (p.Leu1466Phefs)deletionPathogenicrs80359444GRCh37Chr 13, 32912890: 32912894
542BRCA2NM_000059.3(BRCA2): c.4409_4410delTA (p.Ile1470Lysfs)deletionPathogenicrs80359446GRCh37Chr 13, 32912901: 32912902
543BRCA2NM_000059.3(BRCA2): c.4423delA (p.Met1475Trpfs)deletionPathogenicrs80359447GRCh37Chr 13, 32912915: 32912915
544BRCA2NM_000059.3(BRCA2): c.4456_4459delGTTA (p.Val1486Asnfs)deletionPathogenicrs80359450GRCh37Chr 13, 32912948: 32912951
545BRCA2NM_000059.3(BRCA2): c.4471_4474delCTGA (p.Leu1491Lysfs)deletionPathogenicrs80359451GRCh37Chr 13, 32912963: 32912966
546BRCA2NM_000059.3(BRCA2): c.4478_4481delAAAG (p.Glu1493Valfs)deletionPathogenicrs80359455GRCh37Chr 13, 32912970: 32912973
547BRCA2NM_000059.3(BRCA2): c.4525C> T (p.Gln1509Ter)single nucleotide variantPathogenicrs80358683GRCh37Chr 13, 32913017: 32913017
548BRCA2NM_000059.3(BRCA2): c.4546dupA (p.Ile1516Asnfs)duplicationPathogenicrs80359456GRCh37Chr 13, 32913038: 32913039
549BRCA2NM_000059.3(BRCA2): c.4551_4554delAGAA (p.Lys1517Asnfs)deletionPathogenicrs80359457GRCh37Chr 13, 32913043: 32913046
550BRCA2NM_000059.3(BRCA2): c.4554delA (p.Glu1518Aspfs)deletionPathogenicrs80359458GRCh37Chr 13, 32913046: 32913046
551BRCA2NM_000059.3(BRCA2): c.4588A> T (p.Lys1530Ter)single nucleotide variantPathogenicrs80358692GRCh37Chr 13, 32913080: 32913080
552BRCA2NM_000059.3(BRCA2): c.4593dupA (p.Val1532Serfs)duplicationPathogenicrs397507732GRCh37Chr 13, 32913085: 32913086
553BRCA2NM_000059.3(BRCA2): c.462_463delAA (p.Asp156Terfs)deletionPathogenicrs80359459GRCh37Chr 13, 32900274: 32900275
554BRCA2NM_000059.3(BRCA2): c.469_470delAA (p.Lys157Valfs)deletionPathogenicrs397507739GRCh37Chr 13, 32900281: 32900282
555BRCA2NM_000059.3(BRCA2): c.4708_4709delAG (p.Glu1571Glyfs)deletionPathogenicrs80359464GRCh37Chr 13, 32913200: 32913201
556BRCA2NM_000059.3(BRCA2): c.470_474delAGTCA (p.Lys157Serfs)deletionPathogenicrs80359463GRCh37Chr 13, 32900282: 32900286
557BRCA2NM_000059.3(BRCA2): c.4731_4736delATTAGCinsG (p.Leu1578Metfs)indelPathogenicrs276174846GRCh37Chr 13, 32913223: 32913228
558BRCA2NM_000059.3(BRCA2): c.4742_4743insTG (p.Glu1581Aspfs)insertionPathogenicrs276174847GRCh37Chr 13, 32913234: 32913235
559BRCA2NM_000059.3(BRCA2): c.475+1G> Asingle nucleotide variantPathogenicrs81002797GRCh37Chr 13, 32900288: 32900288
560BRCA2NM_000059.3(BRCA2): c.475+1G> Tsingle nucleotide variantPathogenicrs81002797GRCh37Chr 13, 32900288: 32900288
561BRCA2NM_000059.3(BRCA2): c.475G> A (p.Val159Met)single nucleotide variantPathogenicrs80358702GRCh37Chr 13, 32900287: 32900287
562BRCA2NM_000059.3(BRCA2): c.4797delT (p.Asn1599Lysfs)deletionPathogenicrs80359465GRCh37Chr 13, 32913289: 32913289
563BRCA2NM_000059.3(BRCA2): c.4808dupA (p.Asn1603Lysfs)duplicationPathogenicrs80359466GRCh37Chr 13, 32913300: 32913301
564BRCA2NM_000059.3(BRCA2): c.4829_4830delTG (p.Val1610Glyfs)deletionPathogenicrs80359468GRCh37Chr 13, 32913321: 32913322
565BRCA2NM_000059.3(BRCA2): c.4845_4846delCT (p.Leu1616Lysfs)deletionPathogenicrs80359469GRCh37Chr 13, 32913337: 32913338
566BRCA2NM_000059.3(BRCA2): c.4859T> G (p.Leu1620Ter)single nucleotide variantPathogenicrs80358710GRCh37Chr 13, 32913351: 32913351
567BRCA2NM_000059.3(BRCA2): c.4889C> G (p.Ser1630Ter)single nucleotide variantPathogenicrs80358711GRCh37Chr 13, 32913381: 32913381
568BRCA2NM_000059.3(BRCA2): c.491T> A (p.Leu164Ter)single nucleotide variantPathogenicrs80358717GRCh37Chr 13, 32900394: 32900394
569BRCA2NM_000059.3(BRCA2): c.4933A> T (p.Lys1645Ter)single nucleotide variantPathogenicrs80358719GRCh37Chr 13, 32913425: 32913425
570BRCA2NM_000059.3(BRCA2): c.4935delA (p.Glu1646Lysfs)deletionPathogenicrs80359472GRCh37Chr 13, 32913427: 32913427
571BRCA2NM_000059.3(BRCA2): c.4940_4941delCA (p.Thr1647Serfs)deletionPathogenicrs397507751GRCh37Chr 13, 32913432: 32913433
572BRCA2NM_000059.3(BRCA2): c.4947_4948delAA (p.Pro1651Cysfs)deletionPathogenicrs80359474GRCh37Chr 13, 32913439: 32913440
573BRCA2NM_000059.3(BRCA2): c.4965C> A (p.Tyr1655Ter)single nucleotide variantPathogenicrs80358721GRCh37Chr 13, 32913457: 32913457
574BRCA2NM_000059.3(BRCA2): c.4965delC (p.Tyr1655Terfs)deletionPathogenicrs80359475GRCh37Chr 13, 32913457: 32913457
575BRCA2NM_000059.3(BRCA2): c.5065_5066delGCinsAAA (p.Ala1689Lysfs)indelPathogenicrs276174852GRCh37Chr 13, 32913557: 32913558
576BRCA2NM_000059.3(BRCA2): c.5073delA (p.Lys1691Asnfs)deletionPathogenicrs80359481GRCh37Chr 13, 32913565: 32913565
577BRCA2NM_000059.3(BRCA2): c.5107G> T (p.Glu1703Ter)single nucleotide variantPathogenicrs80358735GRCh37Chr 13, 32913599: 32913599
578BRCA2NM_000059.3(BRCA2): c.5116_5119delAATA (p.Asn1706Leufs)deletionPathogenicrs276174853GRCh37Chr 13, 32913608: 32913611
579BRCA2NM_000059.3(BRCA2): c.5130_5133delTGTA (p.Tyr1710Terfs)deletionPathogenicrs80359485GRCh37Chr 13, 32913622: 32913625
580BRCA2NM_000059.3(BRCA2): c.5131_5134delGTAG (p.Val1711Glufs)deletionPathogenicrs80359486GRCh37Chr 13, 32913623: 32913626
581BRCA2NM_000059.3(BRCA2): c.5141_5144delATTT (p.Tyr1714Cysfs)deletionPathogenicrs80359487GRCh37Chr 13, 32913633: 32913636
582BRCA2NM_000059.3(BRCA2): c.5157_5161delTTCAA (p.Asn1719Lysfs)deletionPathogenicrs80359488GRCh37Chr 13, 32913649: 32913653
583BRCA2NM_000059.3(BRCA2): c.5158dupT (p.Ser1720Phefs)duplicationPathogenicrs80359489GRCh37Chr 13, 32913650: 32913651
584BRCA2NM_000059.3(BRCA2): c.5159C> G (p.Ser1720Ter)single nucleotide variantPathogenicrs80358740GRCh37Chr 13, 32913651: 32913651
585BRCA2NM_000059.3(BRCA2): c.5164_5165delAG (p.Ser1722Tyrfs)deletionPathogenicrs80359490GRCh37Chr 13, 32913656: 32913657
586BRCA2NM_000059.3(BRCA2): c.517-1G> Asingle nucleotide variantPathogenicrs81002849GRCh37Chr 13, 32900635: 32900635
587BRCA2NM_000059.3(BRCA2): c.517-2A> Gsingle nucleotide variantPathogenicrs81002858GRCh37Chr 13, 32900634: 32900634
588BRCA2NM_000059.3(BRCA2): c.5180delA (p.Asn1727Metfs)deletionPathogenicrs80359491GRCh37Chr 13, 32913672: 32913672
589BRCA2NM_000059.3(BRCA2): c.51_52delAC (p.Arg18Leufs)deletionPathogenicrs80359483GRCh37Chr 13, 32890648: 32890649
590BRCA2NM_000059.3(BRCA2): c.5217T> A (p.Tyr1739Ter)single nucleotide variantPathogenicrs80358746GRCh37Chr 13, 32913709: 32913709
591BRCA2NM_000059.3(BRCA2): c.5217_5220delTTTA (p.Tyr1739Terfs)deletionPathogenicrs80359494GRCh37Chr 13, 32913709: 32913712
592BRCA2NM_000059.3(BRCA2): c.5217_5221delTTTAA (p.Tyr1739Terfs)deletionPathogenicrs80359495GRCh37Chr 13, 32913709: 32913713
593BRCA2NM_000059.3(BRCA2): c.5217_5223delTTTAAGT (p.Tyr1739Terfs)deletionPathogenicrs80359496GRCh37Chr 13, 32913709: 32913715
594BRCA2NM_000059.3(BRCA2): c.5217_5224delTTTAAGTA (p.Tyr1739Terfs)deletionPathogenicrs80359497GRCh37Chr 13, 32913709: 32913716
595BRCA2NM_000059.3(BRCA2): c.5279C> G (p.Ser1760Ter)single nucleotide variantPathogenicrs80358751GRCh37Chr 13, 32913771: 32913771
596BRCA2NM_000059.3(BRCA2): c.5286T> A (p.Tyr1762Ter)single nucleotide variantPathogenicrs80358754GRCh37Chr 13, 32913778: 32913778
597BRCA2NM_000059.3(BRCA2): c.5344C> T (p.Gln1782Ter)single nucleotide variantPathogenicrs80358757GRCh37Chr 13, 32913836: 32913836
598BRCA2NM_000059.3(BRCA2): c.5344_5345delCA (p.Gln1782Lysfs)deletionPathogenicrs80359506GRCh37Chr 13, 32913836: 32913837
599BRCA2NM_000059.3(BRCA2): c.538_539delAT (p.Ile180Phefs)deletionPathogenicrs80359510GRCh37Chr 13, 32900657: 32900658
600BRCA2NM_000059.3(BRCA2): c.539delT (p.Ser181Leufs)deletionPathogenicrs276174857GRCh37Chr 13, 32900658: 32900658
601BRCA2NM_000059.3(BRCA2): c.5404C> T (p.Gln1802Ter)single nucleotide variantPathogenicrs80358763GRCh37Chr 13, 32913896: 32913896
602BRCA2NM_000059.3(BRCA2): c.5428G> A (p.Val1810Ile)single nucleotide variantPathogenicrs80358766GRCh37Chr 13, 32913920: 32913920
603BRCA2NM_000059.3(BRCA2): c.5434G> T (p.Glu1812Ter)single nucleotide variantPathogenicrs80358767GRCh37Chr 13, 32913926: 32913926
604BRCA2NM_000059.3(BRCA2): c.5454delA (p.Cys1820Alafs)deletionPathogenicrs80359513GRCh37Chr 13, 32913946: 32913946
605BRCA2NM_000059.3(BRCA2): c.5466dupT (p.Lys1823Terfs)duplicationPathogenicrs80359514GRCh37Chr 13, 32913958: 32913959
606BRCA2NM_000059.3(BRCA2): c.5526delT (p.Ala1843Hisfs)deletionPathogenicrs80359518GRCh37Chr 13, 32914018: 32914018
607BRCA2NM_000059.3(BRCA2): c.5542delA (p.Ser1848Valfs)deletionPathogenicrs80359519GRCh37Chr 13, 32914034: 32914034
608BRCA2NM_000059.3(BRCA2): c.5569G> T (p.Glu1857Ter)single nucleotide variantPathogenicrs80358778GRCh37Chr 13, 32914061: 32914061
609BRCA2NM_000059.3(BRCA2): c.5577_5580delTAAA (p.Lys1861Terfs)deletionPathogenicrs80359522GRCh37Chr 13, 32914069: 32914072
610BRCA2NM_000059.3(BRCA2): c.5585_5588delTGAA (p.Val1862Glufs)deletionPathogenicrs80359523GRCh37Chr 13, 32914077: 32914080
611BRCA2NM_000059.3(BRCA2): c.5609_5610delTCinsAG (p.Phe1870Ter)indelPathogenicrs276174859GRCh37Chr 13, 32914101: 32914102
612BRCA2NM_000059.3(BRCA2): c.5616_5620delAGTAA (p.Lys1872Asnfs)deletionPathogenicrs80359525GRCh37Chr 13, 32914108: 32914112
613BRCA2NM_000059.3(BRCA2): c.5641_5644delAAAT (p.Lys1881Glnfs)deletionPathogenicrs276174860GRCh37Chr 13, 32914133: 32914136
614BRCA2NM_000059.3(BRCA2): c.5656C> T (p.Gln1886Ter)single nucleotide variantPathogenicrs80358790GRCh37Chr 13, 32914148: 32914148
615BRCA2NM_000059.3(BRCA2): c.5702_5703delAG (p.Glu1901Glyfs)deletionPathogenicrs80359528GRCh37Chr 13, 32914194: 32914195
616BRCA2NM_000059.3(BRCA2): c.5717_5718delAC (p.Asn1906Ilefs)deletionPathogenicrs80359529GRCh37Chr 13, 32914209: 32914210
617BRCA2NM_000059.3(BRCA2): c.5718_5721delCTCT (p.Ser1907Terfs)deletionPathogenicrs276174862GRCh37Chr 13, 32914210: 32914213
618BRCA2NM_000059.3(BRCA2): c.5724delA (p.Asp1909Ilefs)deletionPathogenicrs80359532GRCh37Chr 13, 32914216: 32914216
619BRCA2NM_000059.3(BRCA2): c.5763dupT (p.Ala1922Cysfs)duplicationPathogenicrs80359534GRCh37Chr 13, 32914255: 32914256
620BRCA2NM_000059.3(BRCA2): c.5771_5774delTTCA (p.Ile1924Argfs)deletionPathogenicrs80359535GRCh37Chr 13, 32914263: 32914266
621BRCA2NM_000059.3(BRCA2): c.5773C> T (p.Gln1925Ter)single nucleotide variantPathogenicrs80358806GRCh37Chr 13, 32914265: 32914265
622BRCA2NM_000059.3(BRCA2): c.5778_5779delTG (p.Ser1926Argfs)deletionPathogenicrs80359536GRCh37Chr 13, 32914270: 32914271
623BRCA2NM_000059.3(BRCA2): c.5782G> A (p.Glu1928Lys)single nucleotide variantPathogenicrs56253082GRCh37Chr 13, 32914274: 32914274
624BRCA2NM_000059.3(BRCA2): c.5791C> T (p.Gln1931Ter)single nucleotide variantPathogenicrs80358807GRCh37Chr 13, 32914283: 32914283
625BRCA2NM_000059.3(BRCA2): c.5796_5797delTA (p.His1932Glnfs)deletionPathogenicrs80359537GRCh37Chr 13, 32914288: 32914289
626BRCA2NM_000059.3(BRCA2): c.581G> A (p.Trp194Ter)single nucleotide variantPathogenicrs80358809GRCh37Chr 13, 32900700: 32900700
627BRCA2NM_000059.3(BRCA2): c.5820_5833delGAAAGTTTCTAAAA (p.Glu1940Aspfs)deletionPathogenicrs80359539GRCh37Chr 13, 32914312: 32914325
628BRCA2NM_000059.3(BRCA2): c.5823delA (p.Val1942Phefs)deletionPathogenicrs80359540GRCh37Chr 13, 32914315: 32914315
629BRCA2NM_000059.3(BRCA2): c.5836_5837insA (p.Ser1946Tyrfs)insertionPathogenicrs80359542GRCh37Chr 13, 32914328: 32914329
630BRCA2NM_000059.3(BRCA2): c.5857G> T (p.Glu1953Ter)single nucleotide variantPathogenicrs80358814GRCh37Chr 13, 32914349: 32914349
631BRCA2NM_000059.3(BRCA2): c.5857delG (p.Glu1953Lysfs)deletionPathogenicrs80359545GRCh37Chr 13, 32914349: 32914349
632BRCA2NM_000059.3(BRCA2): c.5864C> A (p.Ser1955Ter)single nucleotide variantPathogenicrs80358815GRCh37Chr 13, 32914356: 32914356
633BRCA2NM_000059.3(BRCA2): c.5890delA (p.Lys1964Serfs)deletionPathogenicrs276174864GRCh37Chr 13, 32914382: 32914382
634BRCA2NM_000059.3(BRCA2): c.5904_5907delAGTC (p.Val1969Hisfs)deletionPathogenicrs80359547GRCh37Chr 13, 32914396: 32914399
635BRCA2NM_000059.3(BRCA2): c.5925T> A (p.Cys1975Ter)single nucleotide variantPathogenicrs80358825GRCh37Chr 13, 32914417: 32914417
636BRCA2NM_000059.3(BRCA2): c.5946_5949delTGGA (p.Ser1982Argfs)deletionPathogenicrs80359549GRCh37Chr 13, 32914438: 32914441
637BRCA2NM_000059.3(BRCA2): c.5959C> T (p.Gln1987Ter)single nucleotide variantPathogenicrs80358828GRCh37Chr 13, 32914451: 32914451
638BRCA2NM_000059.3(BRCA2): c.5967dupA (p.Asp1990Argfs)duplicationPathogenicrs276174865GRCh37Chr 13, 32914459: 32914460
639BRCA2NM_000059.3(BRCA2): c.5968_5969delGA (p.Asp1990Cysfs)deletionPathogenicrs80359552GRCh37Chr 13, 32914460: 32914461
640BRCA2NM_000059.3(BRCA2): c.6001delT (p.Ser2001Leufs)deletionPathogenicrs80359553GRCh37Chr 13, 32914493: 32914493
641BRCA2NM_000059.3(BRCA2): c.6025C> T (p.Gln2009Ter)single nucleotide variantPathogenicrs80358838GRCh37Chr 13, 32914517: 32914517
642BRCA2NM_000059.3(BRCA2): c.6065C> G (p.Ser2022Ter)single nucleotide variantPathogenicrs80358843GRCh37Chr 13, 32914557: 32914557
643BRCA2NM_000059.3(BRCA2): c.6068_6072delACCAG (p.Asp2023Alafs)deletionPathogenicrs80359555GRCh37Chr 13, 32914560: 32914564
644BRCA2NM_000059.3(BRCA2): c.6070C> T (p.Gln2024Ter)single nucleotide variantPathogenicrs80358844GRCh37Chr 13, 32914562: 32914562
645BRCA2NM_000059.3(BRCA2): c.6071delA (p.Gln2024Argfs)deletionPathogenicrs80359556GRCh37Chr 13, 32914563: 32914563
646BRCA2NM_000059.3(BRCA2): c.6078_6079delAA (p.Glu2028Argfs)deletionPathogenicrs80359557GRCh37Chr 13, 32914570: 32914571
647BRCA2NM_000059.3(BRCA2): c.6079dupA (p.Arg2027Lysfs)duplicationPathogenicrs397507826GRCh37Chr 13, 32914571: 32914572
648BRCA2NM_000059.3(BRCA2): c.6082_6086delGAAGA (p.Glu2028Lysfs)deletionPathogenicrs80359558GRCh37Chr 13, 32914574: 32914578
649BRCA2NM_000059.3(BRCA2): c.6103delA (p.Thr2035Leufs)deletionPathogenicrs80359559GRCh37Chr 13, 32914595: 32914595
650BRCA2NM_000059.3(BRCA2): c.610delC (p.Ser205Valfs)deletionPathogenicrs80359560GRCh37Chr 13, 32900729: 32900729
651BRCA2NM_000059.3(BRCA2): c.6124C> T (p.Gln2042Ter)single nucleotide variantPathogenicrs80358851GRCh37Chr 13, 32914616: 32914616
652BRCA2NM_000059.3(BRCA2): c.6129dupA (p.Gly2044Argfs)duplicationPathogenicrs80359561GRCh37Chr 13, 32914621: 32914622
653BRCA2NM_000059.3(BRCA2): c.6154delT (p.Ser2052Hisfs)deletionPathogenicrs80359562GRCh37Chr 13, 32914646: 32914646
654BRCA2NM_000059.3(BRCA2): c.6169G> T (p.Gly2057Ter)single nucleotide variantPathogenicrs80358856GRCh37Chr 13, 32914661: 32914661
655BRCA2NM_000059.3(BRCA2): c.6178delA (p.Thr2060Glnfs)deletionPathogenicrs80359563GRCh37Chr 13, 32914670: 32914670
656BRCA2NM_000059.3(BRCA2): c.6198_6199delTT (p.Ser2067Hisfs)deletionPathogenicrs80359564GRCh37Chr 13, 32914690: 32914691
657BRCA2NM_000059.3(BRCA2): c.6201delC (p.Ile2068Phefs)deletionPathogenicrs80359565GRCh37Chr 13, 32914693: 32914693
658BRCA2NM_000059.3(BRCA2): c.6209_6212delAAAG (p.Glu2070Valfs)deletionPathogenicrs276174866GRCh37Chr 13, 32914701: 32914704
659BRCA2NM_000059.3(BRCA2): c.6216delC (p.Leu2073Tyrfs)deletionPathogenicrs80359567GRCh37Chr 13, 32914708: 32914708
660BRCA2NM_000059.3(BRCA2): c.6220_6222delCACinsAA (p.His2074Lysfs)indelPathogenicrs276174867GRCh37Chr 13, 32914712: 32914714
661BRCA2NM_000059.3(BRCA2): c.6238delT (p.Leu2080Terfs)deletionPathogenicrs80359569GRCh37Chr 13, 32914730: 32914730
662BRCA2NM_000059.3(BRCA2): c.6239T> G (p.Leu2080Ter)single nucleotide variantPathogenicrs80358864GRCh37Chr 13, 32914731: 32914731
663BRCA2NM_000059.3(BRCA2): c.6240dupA (p.Glu2081Argfs)duplicationPathogenicrs80359570GRCh37Chr 13, 32914732: 32914733
664BRCA2NM_000059.3(BRCA2): c.6270_6271delTA (p.His2090Glnfs)deletionPathogenicrs80359571GRCh37Chr 13, 32914762: 32914763
665BRCA2NM_000059.3(BRCA2): c.6280_6286delTATTCAC (p.Tyr2094Leufs)deletionPathogenicrs80359572GRCh37Chr 13, 32914772: 32914778
666BRCA2NM_000059.3(BRCA2): c.6282_6289delTTCACCTA (p.Ser2095Valfs)deletionPathogenicrs80359573GRCh37Chr 13, 32914774: 32914781
667BRCA2NM_000059.3(BRCA2): c.6308C> A (p.Ser2103Ter)single nucleotide variantPathogenicrs80358870GRCh37Chr 13, 32914800: 32914800
668BRCA2NM_000059.3(BRCA2): c.631G> A (p.Val211Ile)single nucleotide variantPathogenicrs80358871GRCh37Chr 13, 32900750: 32900750
669BRCA2NM_000059.3(BRCA2): c.632-1G> Csingle nucleotide variantPathogenicrs81002820GRCh37Chr 13, 32903579: 32903579
670BRCA2NM_000059.3(BRCA2): c.6325_6326delGT (p.Val2109Terfs)deletionPathogenicrs276174871GRCh37Chr 13, 32914817: 32914818
671BRCA2NM_000059.3(BRCA2): c.6335_6336delGA (p.Arg2112Lysfs)deletionPathogenicrs80359574GRCh37Chr 13, 32914827: 32914828
672BRCA2NM_000059.3(BRCA2): c.634_635delAG (p.Arg212Lysfs)deletionPathogenicrs80359575GRCh37Chr 13, 32903582: 32903583
673BRCA2NM_000059.3(BRCA2): c.6352_6353delGT (p.Val2118Lysfs)deletionPathogenicrs80359576GRCh37Chr 13, 32914844: 32914845
674BRCA2NM_000059.3(BRCA2): c.6373delA (p.Thr2125Profs)deletionPathogenicrs80359578GRCh37Chr 13, 32914865: 32914865
675BRCA2NM_000059.3(BRCA2): c.6382A> T (p.Lys2128Ter)single nucleotide variantPathogenicrs80358875GRCh37Chr 13, 32914874: 32914874
676BRCA2NM_000059.3(BRCA2): c.63delA (p.Ala22Glnfs)deletionPathogenicrs80359582GRCh37Chr 13, 32890660: 32890660
677BRCA2NM_000059.3(BRCA2): c.6401_6404delATAA (p.Asn2134Thrfs)deletionPathogenicrs80359583GRCh37Chr 13, 32914893: 32914896
678BRCA2NM_000059.3(BRCA2): c.6407_6411delTAAAT (p.Leu2136Cysfs)deletionPathogenicrs80359586GRCh37Chr 13, 32914899: 32914903
679BRCA2NM_000059.3(BRCA2): c.6431delA (p.Asn2145Ilefs)deletionPathogenicrs80359587GRCh37Chr 13, 32914923: 32914923
680BRCA2NM_000059.3(BRCA2): c.6443_6444delCT (p.Ser2148Tyrfs)deletionPathogenicrs80359589GRCh37Chr 13, 32914935: 32914936
681BRCA2NM_000059.3(BRCA2): c.6444_6447delTATT (p.Ile2149Lysfs)deletionPathogenicrs80359591GRCh37Chr 13, 32914936: 32914939
682BRCA2NM_000059.3(BRCA2): c.6445_6446delAT (p.Ile2149Terfs)deletionPathogenicrs80359592GRCh37Chr 13, 32914937: 32914938
683BRCA2NM_000059.3(BRCA2): c.6446_6450delTTAAA (p.Ile2149Serfs)deletionPathogenicrs80359593GRCh37Chr 13, 32914938: 32914942
684BRCA2NM_000059.3(BRCA2): c.6449_6450delAA (p.Lys2150Serfs)deletionPathogenicrs80359594GRCh37Chr 13, 32914941: 32914942
685BRCA2NM_000059.3(BRCA2): c.6450dupA (p.Val2151Serfs)duplicationPathogenicrs80359595GRCh37Chr 13, 32914942: 32914943
686BRCA2NM_000059.3(BRCA2): c.6462T> G (p.Tyr2154Ter)single nucleotide variantPathogenicrs80358883GRCh37Chr 13, 32914954: 32914954
687BRCA2NM_000059.3(BRCA2): c.6490delC (p.Gln2164Serfs)deletionPathogenicrs80359599GRCh37Chr 13, 32914982: 32914982
688BRCA2NM_000059.3(BRCA2): c.6494delT (p.Leu2165Trpfs)deletionPathogenicrs276174874GRCh37Chr 13, 32914986: 32914986
689BRCA2NM_000059.3(BRCA2): c.6509_6510delAA (p.Lys2170Serfs)deletionPathogenicrs80359600GRCh37Chr 13, 32915001: 32915002
690BRCA2NM_000059.3(BRCA2): c.652G> T (p.Glu218Ter)single nucleotide variantPathogenicrs80358884GRCh37Chr 13, 32903600: 32903600
691BRCA2NM_000059.3(BRCA2): c.6553delG (p.Ala2185Leufs)deletionPathogenicrs80359603GRCh37Chr 13, 32915045: 32915045
692BRCA2NM_000059.3(BRCA2): c.6600_6601delTT (p.Ser2201Terfs)deletionPathogenicrs80359607GRCh37Chr 13, 32915092: 32915093
693BRCA2NM_000059.3(BRCA2): c.6603_6604delTG (p.Asp2202Cysfs)deletionPathogenicrs80359608GRCh37Chr 13, 32915095: 32915096
694BRCA2NM_000059.3(BRCA2): c.6626_6627delTA (p.Ile2209Argfs)deletionPathogenicrs80359610GRCh37Chr 13, 32915118: 32915119
695BRCA2NM_000059.3(BRCA2): c.6629_6630delAA (p.Glu2210Glyfs)deletionPathogenicrs80359611GRCh37Chr 13, 32915121: 32915122
696BRCA2NM_000059.3(BRCA2): c.662_663delTT (p.Phe221Serfs)deletionPathogenicrs80359609GRCh37Chr 13, 32903610: 32903611
697BRCA2NM_000059.3(BRCA2): c.6638delC (p.Ser2213Leufs)deletionPathogenicrs80359612GRCh37Chr 13, 32915130: 32915130
698BRCA2NM_000059.3(BRCA2): c.6643delT (p.Tyr2215Thrfs)deletionPathogenicrs80359614GRCh37Chr 13, 32915135: 32915135
699BRCA2NM_000059.3(BRCA2): c.6644dupA (p.Tyr2215Terfs)duplicationPathogenicrs80359615GRCh37Chr 13, 32915136: 32915137
700BRCA2NM_000059.3(BRCA2): c.6656C> G (p.Ser2219Ter)single nucleotide variantPathogenicrs80358893GRCh37Chr 13, 32915148: 32915148
701BRCA2NM_000059.3(BRCA2): c.6658_6661delGAAA (p.Glu2220Thrfs)deletionPathogenicrs80359617GRCh37Chr 13, 32915150: 32915153
702BRCA2NM_000059.3(BRCA2): c.6673delA (p.Thr2225Glnfs)deletionPathogenicrs276174875GRCh37Chr 13, 32915165: 32915165
703BRCA2NM_000059.3(BRCA2): c.6676_6677delGA (p.Glu2226Serfs)deletionPathogenicrs80359619GRCh37Chr 13, 32915168: 32915169
704BRCA2NM_000059.3(BRCA2): c.6678delA (p.Ala2227Glnfs)deletionPathogenicrs80359620GRCh37Chr 13, 32915170: 32915170
705BRCA2NM_000059.3(BRCA2): c.6682dupG (p.Val2228Glyfs)duplicationPathogenicrs80359621GRCh37Chr 13, 32915174: 32915175
706BRCA2NM_000059.3(BRCA2): c.67+1G> Asingle nucleotide variantPathogenicrs81002796GRCh37Chr 13, 32890665: 32890665
707BRCA2NM_000059.3(BRCA2): c.67+1G> Tsingle nucleotide variantPathogenicrs81002796GRCh37Chr 13, 32890665: 32890665
708BRCA2NM_000059.3(BRCA2): c.67+2T> Asingle nucleotide variantPathogenicrs81002885GRCh37Chr 13, 32890666: 32890666
709BRCA2NM_000059.3(BRCA2): c.67+2T> Csingle nucleotide variantPathogenicrs81002885GRCh37Chr 13, 32890666: 32890666
710BRCA2NM_000059.3(BRCA2): c.6715G> T (p.Glu2239Ter)single nucleotide variantPathogenicrs276174876GRCh37Chr 13, 32915207: 32915207
711BRCA2NM_000059.3(BRCA2): c.6743_6755delATGCCACACATTC (p.His2248Leufs)deletionPathogenicrs80359622GRCh37Chr 13, 32915235: 32915247
712BRCA2NM_000059.3(BRCA2): c.6754dupT (p.Ser2252Phefs)duplicationPathogenicrs180670511GRCh37Chr 13, 32915246: 32915247
713BRCA2NM_000059.3(BRCA2): c.6757_6758delCT (p.Leu2253Phefs)deletionPathogenicrs80359623GRCh37Chr 13, 32915249: 32915250
714BRCA2NM_000059.3(BRCA2): c.6761_6762delTT (p.Phe2254Tyrfs)deletionPathogenicrs80359624GRCh37Chr 13, 32915253: 32915254
715BRCA2NM_000059.3(BRCA2): c.6768T> A (p.Cys2256Ter)single nucleotide variantPathogenicrs80358901GRCh37Chr 13, 32915260: 32915260
716BRCA2NM_000059.3(BRCA2): c.6809delG (p.Gly2270Glufs)deletionPathogenicrs80359625GRCh37Chr 13, 32915301: 32915301
717BRCA2NM_000059.3(BRCA2): c.682-1G> Csingle nucleotide variantPathogenicrs81002831GRCh37Chr 13, 32905055: 32905055
718BRCA2NM_000059.3(BRCA2): c.6833_6837delTCTTA (p.Ile2278Serfs)deletionPathogenicrs80359627GRCh37Chr 13, 32915325: 32915329
719BRCA2NM_000059.3(BRCA2): c.6938-2A> Gsingle nucleotide variantLikely pathogenicrs81002863GRCh37Chr 13, 32920962: 32920962
720BRCA2NM_000059.3(BRCA2): c.696delT (p.Ser234Profs)deletionPathogenicrs80359630GRCh37Chr 13, 32905070: 32905070
721BRCA2NM_000059.3(BRCA2): c.6990_6994delTACCT (p.Ile2330Metfs)deletionPathogenicrs80359631GRCh37Chr 13, 32921016: 32921020
722BRCA2NM_000059.3(BRCA2): c.7003_7007delTTTCG (p.Phe2335Hisfs)deletionPathogenicrs80359632GRCh37Chr 13, 32921029: 32921033
723BRCA2NM_000059.3(BRCA2): c.7007G> C (p.Arg2336Pro)single nucleotide variantPathogenicrs28897743GRCh37Chr 13, 32921033: 32921033
724BRCA2NM_000059.3(BRCA2): c.7007G> T (p.Arg2336Leu)single nucleotide variantPathogenicrs28897743GRCh37Chr 13, 32921033: 32921033
725BRCA2NM_000059.3(BRCA2): c.7008-2A> Gsingle nucleotide variantPathogenicrs81002823GRCh37Chr 13, 32928996: 32928996
726BRCA2NM_000059.3(BRCA2): c.7008-2A> Tsingle nucleotide variantPathogenicrs81002823GRCh37Chr 13, 32928996: 32928996
727BRCA2NM_000059.3(BRCA2): c.7024C> T (p.Gln2342Ter)single nucleotide variantPathogenicrs80358928GRCh37Chr 13, 32929014: 32929014
728BRCA2NM_000059.3(BRCA2): c.7025_7026delAA (p.Gln2342Argfs)deletionPathogenicrs80359634GRCh37Chr 13, 32929015: 32929016
729BRCA2NM_000059.3(BRCA2): c.7032dupA (p.Gln2345Thrfs)duplicationPathogenicrs80359635GRCh37Chr 13, 32929022: 32929023
730BRCA2NM_000059.3(BRCA2): c.7060C> T (p.Gln2354Ter)single nucleotide variantPathogenicrs80358936GRCh37Chr 13, 32929050: 32929050
731BRCA2NM_000059.3(BRCA2): c.7108_7109delAA (p.Lys2370Ilefs)deletionPathogenicrs80359638GRCh37Chr 13, 32929098: 32929099
732BRCA2NM_000059.3(BRCA2): c.7110delA (p.Lys2370Asnfs)deletionPathogenicrs397507897GRCh37Chr 13, 32929100: 32929100
733BRCA2NM_000059.3(BRCA2): c.7115C> G (p.Ser2372Ter)single nucleotide variantPathogenicrs80358943GRCh37Chr 13, 32929105: 32929105
734BRCA2NM_000059.3(BRCA2): c.7151_7152delAA (p.Gln2384Argfs)deletionPathogenicrs276174890GRCh37Chr 13, 32929141: 32929142
735BRCA2NM_000059.3(BRCA2): c.7156dupT (p.Ser2386Phefs)duplicationPathogenicrs80359639GRCh37Chr 13, 32929146: 32929147
736BRCA2NM_000059.3(BRCA2): c.7180A> T (p.Arg2394Ter)single nucleotide variantPathogenicrs80358946GRCh37Chr 13, 32929170: 32929170
737BRCA2NM_000059.3(BRCA2): c.7208_7211delCCAA (p.Thr2403Lysfs)deletionPathogenicrs80359641GRCh37Chr 13, 32929198: 32929201
738BRCA2NM_000059.3(BRCA2): c.7211_7212delAA (p.Lys2404Serfs)deletionPathogenicrs80359642GRCh37Chr 13, 32929201: 32929202
739BRCA2NM_000059.3(BRCA2): c.7226delC (p.Pro2409Leufs)deletionPathogenicrs80359643GRCh37Chr 13, 32929216: 32929216
740BRCA2NM_000059.3(BRCA2): c.7241C> G (p.Ser2414Ter)single nucleotide variantPathogenicrs80358951GRCh37Chr 13, 32929231: 32929231
741BRCA2NM_000059.3(BRCA2): c.7251_7252delCA (p.His2417Glnfs)deletionPathogenicrs397507907GRCh37Chr 13, 32929241: 32929242
742BRCA2NM_000059.3(BRCA2): c.7254_7255delAG (p.Arg2418Serfs)deletionPathogenicrs80359644GRCh37Chr 13, 32929244: 32929245
743BRCA2NM_000059.3(BRCA2): c.729_732delTGAT (p.Asn243Lysfs)deletionPathogenicrs80359645GRCh37Chr 13, 32905103: 32905106
744BRCA2NM_000059.3(BRCA2): c.733A> T (p.Arg245Ter)single nucleotide variantPathogenicrs80358959GRCh37Chr 13, 32905107: 32905107
745BRCA2NM_000059.3(BRCA2): c.7360delA (p.Ile2454Phefs)deletionPathogenicrs80359646GRCh37Chr 13, 32929350: 32929350
746BRCA2NM_000059.3(BRCA2): c.7443delT (p.Thr2482Glnfs)deletionPathogenicrs80359652GRCh37Chr 13, 32930572: 32930572
747BRCA2NM_000059.3(BRCA2): c.7474_7475delGA (p.Asp2492Tyrfs)deletionPathogenicrs80359653GRCh37Chr 13, 32930603: 32930604
748BRCA2NM_000059.3(BRCA2): c.748delG (p.Val250Terfs)deletionPathogenicrs80359654GRCh37Chr 13, 32905122: 32905122
749BRCA2NM_000059.3(BRCA2): c.7543delA (p.Thr2515Hisfs)deletionPathogenicrs80359658GRCh37Chr 13, 32930672: 32930672
750BRCA2NM_000059.3(BRCA2): c.7558C> T (p.Arg2520Ter)single nucleotide variantPathogenicrs80358981GRCh37Chr 13, 32930687: 32930687
751BRCA2NM_000059.3(BRCA2): c.755delA (p.Asp252Alafs)deletionPathogenicrs80359661GRCh37Chr 13, 32905129: 32905129
752BRCA2NM_000059.3(BRCA2): c.756_759delCAGT (p.Asp252Glufs)deletionPathogenicrs80359663GRCh37Chr 13, 32905130: 32905133
753BRCA2NM_000059.3(BRCA2): c.7593delT (p.Ser2533Leufs)deletionPathogenicrs80359665GRCh37Chr 13, 32930722: 32930722
754BRCA2NM_000059.3(BRCA2): c.7617+1G> Asingle nucleotide variantPathogenicrs397507922GRCh37Chr 13, 32930747: 32930747
755BRCA2NM_000059.3(BRCA2): c.7617+2T> Gsingle nucleotide variantPathogenicrs81002843GRCh37Chr 13, 32930748: 32930748
756BRCA2NM_000059.3(BRCA2): c.7647C> A (p.Cys2549Ter)single nucleotide variantPathogenicrs80358993GRCh37Chr 13, 32931908: 32931908
757BRCA2NM_000059.3(BRCA2): c.7655_7658delTTAA (p.Ile2552Thrfs)deletionPathogenicrs80359669GRCh37Chr 13, 32931916: 32931919
758BRCA2NM_000059.3(BRCA2): c.7679_7680delTT (p.Phe2560Serfs)deletionPathogenicrs80359673GRCh37Chr 13, 32931940: 32931941
759BRCA2NM_000059.3(BRCA2): c.767_768delCA (p.Thr256Lysfs)deletionPathogenicrs80359670GRCh37Chr 13, 32905141: 32905142
760BRCA2NM_000059.3(BRCA2): c.7680dupT (p.Gln2561Serfs)duplicationPathogenicrs397507932GRCh37Chr 13, 32931941: 32931942
761BRCA2NM_000059.3(BRCA2): c.7681C> T (p.Gln2561Ter)single nucleotide variantPathogenicrs80358994GRCh37Chr 13, 32931942: 32931942
762BRCA2NM_000059.3(BRCA2): c.7689delC (p.His2563Glnfs)deletionPathogenicrs80359674GRCh37Chr 13, 32931950: 32931950
763BRCA2NM_000059.3(BRCA2): c.7721G> A (p.Trp2574Ter)single nucleotide variantPathogenicrs80358997GRCh37Chr 13, 32931982: 32931982
764BRCA2NM_000059.3(BRCA2): c.772C> T (p.Gln258Ter)single nucleotide variantPathogenicrs80358998GRCh37Chr 13, 32905146: 32905146
765BRCA2NM_000059.3(BRCA2): c.7738C> T (p.Gln2580Ter)single nucleotide variantPathogenicrs80358999GRCh37Chr 13, 32931999: 32931999
766BRCA2NM_000059.3(BRCA2): c.7757G> A (p.Trp2586Ter)single nucleotide variantPathogenicrs80359003GRCh37Chr 13, 32932018: 32932018
767BRCA2NM_000059.3(BRCA2): c.7761delC (p.Ile2588Tyrfs)deletionPathogenicrs80359678GRCh37Chr 13, 32932022: 32932022
768BRCA2NM_000059.3(BRCA2): c.7762delA (p.Ile2588Tyrfs)deletionPathogenicrs80359679GRCh37Chr 13, 32932023: 32932023
769BRCA2NM_000059.3(BRCA2): c.7805+1G> Asingle nucleotide variantPathogenicrs81002809GRCh37Chr 13, 32932067: 32932067
770BRCA2NM_000059.3(BRCA2): c.7806-1G> Tsingle nucleotide variantPathogenicrs81002860GRCh37Chr 13, 32936659: 32936659
771BRCA2NM_000059.3(BRCA2): c.7806-2A> Gsingle nucleotide variantLikely pathogenicrs81002836GRCh37Chr 13, 32936658: 32936658
772BRCA2NM_000059.3(BRCA2): c.7806_7807insAG (p.Ala2603Argfs)insertionPathogenicrs80359683GRCh37Chr 13, 32936660: 32936661
773BRCA2NM_000059.3(BRCA2): c.7847delC (p.Ser2616Leufs)deletionPathogenicrs80359685GRCh37Chr 13, 32936701: 32936701
774BRCA2NM_000059.3(BRCA2): c.7863T> A (p.Tyr2621Ter)single nucleotide variantPathogenicrs276174896GRCh37Chr 13, 32936717: 32936717
775BRCA2NM_000059.3(BRCA2): c.7879A> T (p.Ile2627Phe)single nucleotide variantPathogenicrs80359014GRCh37Chr 13, 32936733: 32936733
776BRCA2NM_000059.3(BRCA2): c.7886G> A (p.Trp2629Ter)single nucleotide variantPathogenicrs80359015GRCh37Chr 13, 32936740: 32936740
777BRCA2NM_000059.3(BRCA2): c.7908T> A (p.Cys2636Ter)single nucleotide variantPathogenicrs80359016GRCh37Chr 13, 32936762: 32936762
778BRCA2NM_000059.3(BRCA2): c.793+1G> Asingle nucleotide variantPathogenicrs81002846GRCh37Chr 13, 32905168: 32905168
779BRCA2NM_000059.3(BRCA2): c.793+1G> Tsingle nucleotide variantPathogenicrs81002846GRCh37Chr 13, 32905168: 32905168
780BRCA2NM_000059.3(BRCA2): c.7934delG (p.Arg2645Asnfs)deletionPathogenicrs80359688GRCh37Chr 13, 32936788: 32936788
781BRCA2NM_000059.3(BRCA2): c.7954delG (p.Val2652Cysfs)deletionPathogenicrs80359689GRCh37Chr 13, 32936808: 32936808
782BRCA2NM_000059.3(BRCA2): c.7976+1G> Asingle nucleotide variantLikely pathogenicrs81002873GRCh37Chr 13, 32936831: 32936831
783BRCA2NM_000059.3(BRCA2): c.7978T> G (p.Tyr2660Asp)single nucleotide variantLikely pathogenicrs80359029GRCh37Chr 13, 32937317: 32937317
784BRCA2NM_000059.3(BRCA2): c.7988A> T (p.Glu2663Val)single nucleotide variantPathogenicrs80359031GRCh37Chr 13, 32937327: 32937327
785BRCA2NM_000059.3(BRCA2): c.7996A> T (p.Arg2666Ter)single nucleotide variantPathogenicrs80359032GRCh37Chr 13, 32937335: 32937335
786BRCA2NM_000059.3(BRCA2): c.8002A> T (p.Arg2668Ter)single nucleotide variantPathogenicrs276174900GRCh37Chr 13, 32937341: 32937341
787BRCA2NM_000059.3(BRCA2): c.8009C> T (p.Ser2670Leu)single nucleotide variantLikely pathogenicrs80359035GRCh37Chr 13, 32937348: 32937348
788BRCA2NM_000059.3(BRCA2): c.8029delG (p.Glu2677Lysfs)deletionPathogenicrs80359691GRCh37Chr 13, 32937368: 32937368
789BRCA2NM_000059.3(BRCA2): c.8042_8043delCA (p.Thr2681Serfs)deletionPathogenicrs276174901GRCh37Chr 13, 32937381: 32937382
790BRCA2NM_000059.3(BRCA2): c.8058delT (p.Val2687Phefs)deletionPathogenicrs80359692GRCh37Chr 13, 32937397: 32937397
791BRCA2NM_000059.3(BRCA2): c.8067T> A (p.Cys2689Ter)single nucleotide variantPathogenicrs80359046GRCh37Chr 13, 32937406: 32937406
792BRCA2NM_000059.3(BRCA2): c.8067delT (p.Cys2689Trpfs)deletionPathogenicrs80359693GRCh37Chr 13, 32937406: 32937406
793BRCA2NM_000059.3(BRCA2): c.8068_8069delGT (p.Val2690Phefs)deletionPathogenicrs80359694GRCh37Chr 13, 32937407: 32937408
794BRCA2NM_000059.3(BRCA2): c.8084C> G (p.Ser2695Ter)single nucleotide variantPathogenicrs80359048GRCh37Chr 13, 32937423: 32937423
795BRCA2NM_000059.3(BRCA2): c.8087T> A (p.Leu2696Ter)single nucleotide variantPathogenicrs80359050GRCh37Chr 13, 32937426: 32937426
796BRCA2NM_000059.3(BRCA2): c.8087delT (p.Leu2696Terfs)deletionPathogenicrs80359695GRCh37Chr 13, 32937426: 32937426
797BRCA2NM_000059.3(BRCA2): c.809C> G (p.Ser270Ter)single nucleotide variantPathogenicrs276174902GRCh37Chr 13, 32906424: 32906424
798BRCA2NM_000059.3(BRCA2): c.8130delT (p.Ser2710Argfs)deletionPathogenicrs80359696GRCh37Chr 13, 32937469: 32937469
799BRCA2NM_000059.3(BRCA2): c.8140C> T (p.Gln2714Ter)single nucleotide variantPathogenicrs80359058GRCh37Chr 13, 32937479: 32937479
800BRCA2NM_000059.3(BRCA2): c.8167G> C (p.Asp2723His)single nucleotide variantPathogenicrs41293511GRCh37Chr 13, 32937506: 32937506
801BRCA2NM_000059.3(BRCA2): c.818C> G (p.Ser273Ter)single nucleotide variantPathogenicrs80359068GRCh37Chr 13, 32906433: 32906433
802BRCA2NM_000059.3(BRCA2): c.8234_8237delTGAC (p.Leu2745Glnfs)deletionPathogenicrs80359699GRCh37Chr 13, 32937573: 32937576
803BRCA2NM_000059.3(BRCA2): c.8234dupT (p.Thr2746Aspfs)duplicationPathogenicrs276174903GRCh37Chr 13, 32937573: 32937574
804BRCA2NM_000059.3(BRCA2): c.8237_8238delCA (p.Thr2746Serfs)deletionPathogenicrs80359700GRCh37Chr 13, 32937576: 32937577
805BRCA2NM_000059.3(BRCA2): c.8247_8248delGA (p.Lys2750Aspfs)deletionPathogenicrs80359702GRCh37Chr 13, 32937586: 32937587
806BRCA2NM_000059.3(BRCA2): c.8331+1G> Tsingle nucleotide variantPathogenicrs81002837GRCh37Chr 13, 32937671: 32937671
807BRCA2NM_000059.3(BRCA2): c.8340_8343delTAAC (p.Asn2781Valfs)deletionPathogenicrs80359707GRCh37Chr 13, 32944547: 32944550
808BRCA2NM_000059.3(BRCA2): c.8343delC (p.Asn2781Lysfs)deletionPathogenicrs80359708GRCh37Chr 13, 32944550: 32944550
809BRCA2NM_000059.3(BRCA2): c.8377G> A (p.Gly2793Arg)single nucleotide variantLikely pathogenic, Pathogenicrs80359082GRCh37Chr 13, 32944584: 32944584
810BRCA2NM_000059.3(BRCA2): c.8394_8396delTAGinsAA (p.Arg2799Asnfs)indelPathogenicrs276174907GRCh37Chr 13, 32944601: 32944603
811BRCA2NM_000059.3(BRCA2): c.8395delA (p.Arg2799Aspfs)deletionPathogenicrs80359709GRCh37Chr 13, 32944602: 32944602
812BRCA2NM_000059.3(BRCA2): c.8436dupA (p.Gly2813Argfs)duplicationPathogenicrs80359710GRCh37Chr 13, 32944643: 32944644
813BRCA2NM_000059.3(BRCA2): c.8474delC (p.Ala2825Aspfs)deletionPathogenicrs80359711GRCh37Chr 13, 32944681: 32944681
814BRCA2NM_000059.3(BRCA2): c.8485C> T (p.Gln2829Ter)single nucleotide variantPathogenicrs80359099GRCh37Chr 13, 32944692: 32944692
815BRCA2NM_000059.3(BRCA2): c.8487+1G> Asingle nucleotide variantPathogenicrs81002798GRCh37Chr 13, 32944695: 32944695
816BRCA2NM_000059.3(BRCA2): c.8489G> A (p.Trp2830Ter)single nucleotide variantPathogenicrs80359101GRCh37Chr 13, 32945094: 32945094
817BRCA2NM_000059.3(BRCA2): c.8504C> A (p.Ser2835Ter)single nucleotide variantPathogenicrs80359102GRCh37Chr 13, 32945109: 32945109
818BRCA2NM_000059.3(BRCA2): c.8505delA (p.Ser2836Leufs)deletionPathogenicrs80359713GRCh37Chr 13, 32945110: 32945110
819BRCA2NM_000059.3(BRCA2): c.8535_8538delAGAG (p.Glu2846Lysfs)deletionPathogenicrs80359715GRCh37Chr 13, 32945140: 32945143
820BRCA2NM_000059.3(BRCA2): c.8560delT (p.Tyr2854Metfs)deletionPathogenicrs80359717GRCh37Chr 13, 32945165: 32945165
821BRCA2NM_000059.3(BRCA2): c.8572C> T (p.Gln2858Ter)single nucleotide variantPathogenicrs80359112GRCh37Chr 13, 32945177: 32945177
822BRCA2NM_000059.3(BRCA2): c.8575C> T (p.Gln2859Ter)single nucleotide variantPathogenicrs80359115GRCh37Chr 13, 32945180: 32945180
823BRCA2NM_000059.3(BRCA2): c.8594T> A (p.Leu2865Ter)single nucleotide variantPathogenicrs80359118GRCh37Chr 13, 32945199: 32945199
824BRCA2NM_000059.3(BRCA2): c.8594dupT (p.Leu2865Phefs)duplicationPathogenicrs80359721GRCh37Chr 13, 32945199: 32945200
825BRCA2NM_000059.3(BRCA2): c.8629G> T (p.Glu2877Ter)single nucleotide variantPathogenicrs80359121GRCh37Chr 13, 32945234: 32945234
826BRCA2NM_000059.3(BRCA2): c.8633_8754del122 (p.Glu2878Glyfs)deletionPathogenicGRCh37Chr 13, 32950807: 32950928
827BRCA2NM_000059.3(BRCA2): c.8636dupA (p.Asn2879Lysfs)duplicationPathogenicrs80359723GRCh37Chr 13, 32950810: 32950811
828BRCA2NM_000059.3(BRCA2): c.8647delC (p.Pro2883Hisfs)deletionPathogenicrs276174910GRCh37Chr 13, 32950821: 32950821
829BRCA2NM_000059.3(BRCA2): c.8673_8674delAA (p.Arg2892Thrfs)deletionPathogenicrs80359724GRCh37Chr 13, 32950847: 32950848
830BRCA2NM_000059.3(BRCA2): c.8676delA (p.Arg2892Serfs)deletionPathogenicrs80359725GRCh37Chr 13, 32950850: 32950850
831BRCA2NM_000059.3(BRCA2): c.86_87delTT (p.Leu29Glnfs)deletionPathogenicrs80359722GRCh37Chr 13, 32893232: 32893233
832BRCA2NM_000059.3(BRCA2): c.8713_8716delTATG (p.Tyr2905Lysfs)deletionPathogenicrs80359726GRCh37Chr 13, 32950887: 32950890
833BRCA2NM_000059.3(BRCA2): c.8754+4A> Gsingle nucleotide variantPathogenicrs81002893GRCh37Chr 13, 32950932: 32950932
834BRCA2NM_000059.3(BRCA2): c.8754G> A (p.Glu2918=)single nucleotide variantLikely pathogenicrs80359803GRCh37Chr 13, 32950928: 32950928
835BRCA2NM_000059.3(BRCA2): c.8756delG (p.Gly2919Valfs)deletionPathogenicrs80359728GRCh37Chr 13, 32953455: 32953455
836BRCA2NM_000059.3(BRCA2): c.8770G> T (p.Glu2924Ter)single nucleotide variantPathogenicrs80359133GRCh37Chr 13, 32953469: 32953469
837BRCA2NM_000059.3(BRCA2): c.8773C> T (p.Gln2925Ter)single nucleotide variantPathogenicrs80359134GRCh37Chr 13, 32953472: 32953472
838BRCA2NM_000059.3(BRCA2): c.8789delA (p.Asn2930Ilefs)deletionPathogenicrs80359729GRCh37Chr 13, 32953488: 32953488
839BRCA2NM_000059.3(BRCA2): c.880G> T (p.Glu294Ter)single nucleotide variantLikely pathogenicrs397508009GRCh37Chr 13, 32906495: 32906495
840BRCA2NM_000059.3(BRCA2): c.8848delAinsCT (p.Lys2950Leufs)indelPathogenicrs276174912GRCh37Chr 13, 32953547: 32953547
841BRCA2NM_000059.3(BRCA2): c.8878C> T (p.Gln2960Ter)single nucleotide variantPathogenicrs80359140GRCh37Chr 13, 32953577: 32953577
842BRCA2NM_000059.3(BRCA2): c.8912delA (p.Lys2971Serfs)deletionPathogenicrs80359731GRCh37Chr 13, 32953611: 32953611
843BRCA2NM_000059.3(BRCA2): c.8933C> A (p.Ser2978Ter)single nucleotide variantPathogenicrs80359144GRCh37Chr 13, 32953632: 32953632
844BRCA2NM_000059.3(BRCA2): c.8954-3C> Gsingle nucleotide variantPathogenicrs81002844GRCh37Chr 13, 32953884: 32953884
845BRCA2NM_000059.3(BRCA2): c.8961_8964delGAGT (p.Ser2988Phefs)deletionPathogenicrs80359734GRCh37Chr 13, 32953894: 32953897
846BRCA2NM_000059.3(BRCA2): c.8970G> A (p.Trp2990Ter)single nucleotide variantPathogenicrs80359149GRCh37Chr 13, 32953903: 32953903
847BRCA2NM_000059.3(BRCA2): c.897_898insC (p.Val300Argfs)insertionPathogenicrs80359735GRCh37Chr 13, 32906512: 32906513
848BRCA2NM_000059.3(BRCA2): c.8980_8983delTCAG (p.Ser2994Ilefs)deletionPathogenicrs80359737GRCh37Chr 13, 32953913: 32953916
849BRCA2NM_000059.3(BRCA2): c.8999T> A (p.Leu3000Ter)single nucleotide variantPathogenicrs80359151GRCh37Chr 13, 32953932: 32953932
850BRCA2NM_000059.3(BRCA2): c.9016_9017delTA (p.Tyr3006Glnfs)deletionPathogenicrs80359740GRCh37Chr 13, 32953949: 32953950
851BRCA2NM_000059.3(BRCA2): c.9018C> A (p.Tyr3006Ter)single nucleotide variantPathogenicrs80359154GRCh37Chr 13, 32953951: 32953951
852BRCA2NM_000059.3(BRCA2): c.901dupG (p.Asp301Glyfs)duplicationPathogenicrs80359738GRCh37Chr 13, 32906516: 32906517
853BRCA2NM_000059.3(BRCA2): c.9027delT (p.His3010Ilefs)deletionPathogenicrs80359742GRCh37Chr 13, 32953960: 32953960
854BRCA2NM_000059.3(BRCA2): c.9041C> A (p.Ser3014Ter)single nucleotide variantPathogenicrs80359156GRCh37Chr 13, 32953974: 32953974
855BRCA2NM_000059.3(BRCA2): c.9054_9055delTA (p.Ser3018Argfs)deletionPathogenicrs80359743GRCh37Chr 13, 32953987: 32953988
856BRCA2NM_000059.3(BRCA2): c.9057delA (p.Lys3019Asnfs)deletionPathogenicrs80359744GRCh37Chr 13, 32953990: 32953990
857BRCA2NM_000059.3(BRCA2): c.9069_9076delTAACATAC (p.Asn3024Valfs)deletionPathogenicrs80359746GRCh37Chr 13, 32954002: 32954009
858BRCA2NM_000059.3(BRCA2): c.9098_9099insA (p.Gln3034Serfs)insertionPathogenicrs80359747GRCh37Chr 13, 32954031: 32954032
859BRCA2NM_000059.3(BRCA2): c.9099_9100delTC (p.Gln3034Valfs)deletionPathogenicrs80359748GRCh37Chr 13, 32954032: 32954033
860BRCA2NM_000059.3(BRCA2): c.9100C> T (p.Gln3034Ter)single nucleotide variantPathogenicrs80359163GRCh37Chr 13, 32954033: 32954033
861BRCA2NM_000059.3(BRCA2): c.9109C> T (p.Gln3037Ter)single nucleotide variantPathogenicrs397508037GRCh37Chr 13, 32954042: 32954042
862BRCA2NM_000059.3(BRCA2): c.9117+1G> Asingle nucleotide variantPathogenicrs81002802GRCh37Chr 13, 32954051: 32954051
863BRCA2NM_000059.3(BRCA2): c.9117+1G> Tsingle nucleotide variantPathogenicrs81002802GRCh37Chr 13, 32954051: 32954051
864BRCA2NM_000059.3(BRCA2): c.9118-2A> Gsingle nucleotide variantPathogenicrs81002862GRCh37Chr 13, 32954142: 32954142
865BRCA2NM_000059.3(BRCA2): c.9148C> T (p.Gln3050Ter)single nucleotide variantPathogenicrs80359170GRCh37Chr 13, 32954174: 32954174
866BRCA2NM_000059.3(BRCA2): c.9154C> T (p.Arg3052Trp)single nucleotide variantPathogenicrs45580035GRCh37Chr 13, 32954180: 32954180
867BRCA2NM_000059.3(BRCA2): c.9157delG (p.Glu3053Serfs)deletionPathogenicrs80359750GRCh37Chr 13, 32954183: 32954183
868BRCA2NM_000059.3(BRCA2): c.9177delA (p.Lys3059Asnfs)deletionPathogenicrs80359751GRCh37Chr 13, 32954203: 32954203
869BRCA2NM_000059.3(BRCA2): c.9182T> A (p.Leu3061Ter)single nucleotide variantPathogenicrs80359175GRCh37Chr 13, 32954208: 32954208
870BRCA2NM_000059.3(BRCA2): c.9207T> A (p.Cys3069Ter)single nucleotide variantPathogenicrs80359183GRCh37Chr 13, 32954233: 32954233
871BRCA2NM_000059.3(BRCA2): c.9256+1G> Asingle nucleotide variantPathogenicrs81002883GRCh37Chr 13, 32954283: 32954283
872BRCA2NM_000059.3(BRCA2): c.9256G> T (p.Gly3086Ter)single nucleotide variantPathogenicrs80359192GRCh37Chr 13, 32954282: 32954282
873BRCA2NM_000059.3(BRCA2): c.9257-1G> Csingle nucleotide variantLikely pathogenicrs81002889GRCh37Chr 13, 32968825: 32968825
874BRCA2NM_000059.3(BRCA2): c.9269dupT (p.Val3091Argfs)duplicationPathogenicrs80359753GRCh37Chr 13, 32968838: 32968839
875BRCA2NM_000059.3(BRCA2): c.9275_9278delATTT (p.Tyr3092Cysfs)deletionPathogenicrs80359754GRCh37Chr 13, 32968844: 32968847
876BRCA2NM_000059.3(BRCA2): c.9276T> G (p.Tyr3092Ter)single nucleotide variantPathogenicrs80359197GRCh37Chr 13, 32968845: 32968845
877BRCA2NM_000059.3(BRCA2): c.9285C> G (p.Asp3095Glu)single nucleotide variantPathogenicrs80359198GRCh37Chr 13, 32968854: 32968854
878BRCA2NM_000059.3(BRCA2): c.9286G> T (p.Glu3096Ter)single nucleotide variantPathogenicrs80359199GRCh37Chr 13, 32968855: 32968855
879BRCA2NM_000059.3(BRCA2): c.930_931delAT (p.Cys311Phefs)deletionPathogenicrs80359755GRCh37Chr 13, 32906545: 32906546
880BRCA2NM_000059.3(BRCA2): c.9310_9311delAA (p.Lys3104Valfs)deletionPathogenicrs80359756GRCh37Chr 13, 32968879: 32968880
881BRCA2NM_000059.3(BRCA2): c.9317G> A (p.Trp3106Ter)single nucleotide variantPathogenicrs80359205GRCh37Chr 13, 32968886: 32968886
882BRCA2NM_000059.3(BRCA2): c.9356T> G (p.Leu3119Ter)single nucleotide variantPathogenicrs80359207GRCh37Chr 13, 32968925: 32968925
883BRCA2NM_000059.3(BRCA2): c.9360delT (p.Ile3120Metfs)deletionPathogenicrs80359757GRCh37Chr 13, 32968929: 32968929
884BRCA2NM_000059.3(BRCA2): c.9376C> T (p.Gln3126Ter)single nucleotide variantPathogenicrs80359210GRCh37Chr 13, 32968945: 32968945
885BRCA2NM_000059.3(BRCA2): c.9382C> T (p.Arg3128Ter)single nucleotide variantPathogenicrs80359212GRCh37Chr 13, 32968951: 32968951
886BRCA2NM_000059.3(BRCA2): c.9403delC (p.Leu3135Phefs)deletionPathogenicrs80359760GRCh37Chr 13, 32968972: 32968972
887BRCA2NM_000059.3(BRCA2): c.9408delT (p.Thr3137Leufs)deletionPathogenicrs80359761GRCh37Chr 13, 32968977: 32968977
888BRCA2NM_000059.3(BRCA2): c.9426_9427delTT (p.Ser3144Cysfs)deletionPathogenicrs80359762GRCh37Chr 13, 32968995: 32968996
889BRCA2NM_000059.3(BRCA2): c.9455_9456delAG (p.Glu3152Glyfs)deletionPathogenicrs80359764GRCh37Chr 13, 32969024: 32969025
890BRCA2NM_000059.3(BRCA2): c.9466delC (p.Gln3156Lysfs)deletionPathogenicrs80359766GRCh37Chr 13, 32969035: 32969035
891BRCA2NM_000059.3(BRCA2): c.9481A> T (p.Lys3161Ter)single nucleotide variantPathogenicrs80359222GRCh37Chr 13, 32969050: 32969050
892BRCA2NM_000059.3(BRCA2): c.9501G> A (p.Glu3167=)single nucleotide variantPathogenicrs80359808GRCh37Chr 13, 32969070: 32969070
893BRCA2NM_000059.3(BRCA2): c.9502-2A> Csingle nucleotide variantLikely pathogenicrs81002868GRCh37Chr 13, 32971033: 32971033
894BRCA2NM_000059.3(BRCA2): c.9507delT (p.Ile3169Metfs)deletionPathogenicrs80359767GRCh37Chr 13, 32971040: 32971040
895BRCA2NM_000059.3(BRCA2): c.9513_9516delACTT (p.Leu3172Alafs)deletionPathogenicrs80359769GRCh37Chr 13, 32971046: 32971049
896BRCA2NM_000059.3(BRCA2): c.9541_9554delATGCATATACTGCA (p.Met3181Cysfs)deletionPathogenicrs397508062GRCh37Chr 13, 32971074: 32971087
897BRCA2NM_000059.3(BRCA2): c.956dupA (p.Asn319Lysfs)duplicationPathogenicrs80359770GRCh37Chr 13, 32906571: 32906572
898BRCA2NM_000059.3(BRCA2): c.961C> T (p.Gln321Ter)single nucleotide variantPathogenicrs80359234GRCh37Chr 13, 32906576: 32906576
899BRCA2NM_000059.3(BRCA2): c.9649-2A> Gsingle nucleotide variantPathogenicrs81002895GRCh37Chr 13, 32972297: 32972297
900BRCA2NM_000059.3(BRCA2): c.9666delT (p.Cys3222Trpfs)deletionPathogenicrs80359772GRCh37Chr 13, 32972316: 32972316
901BRCA2NM_000059.3(BRCA2): c.9676delT (p.Tyr3226Ilefs)deletionPathogenicrs80359774GRCh37Chr 13, 32972326: 32972326
902BRCA2NM_000059.3(BRCA2): c.9868delG (p.Val3290Phefs)deletionPathogenicrs80359776GRCh37Chr 13, 32972518: 32972518
903BRCA2NM_000059.3(BRCA2): c.9883C> T (p.Gln3295Ter)single nucleotide variantPathogenicrs80359247GRCh37Chr 13, 32972533: 32972533
904BRCA2NM_000059.3(BRCA2): c.9924C> G (p.Tyr3308Ter)single nucleotide variantPathogenicrs4987049GRCh37Chr 13, 32972574: 32972574
905BRCA2NM_000059.3(BRCA2): c.9925G> T (p.Glu3309Ter)single nucleotide variantPathogenicrs80359251GRCh37Chr 13, 32972575: 32972575
906BRCA2NM_000059.3(BRCA2): c.993_994delAA (p.Lys331Asnfs)deletionPathogenicrs80359777GRCh37Chr 13, 32906608: 32906609
907BRCA2NM_000059.3(BRCA2): c.994delA (p.Ile332Phefs)deletionPathogenicrs80359778GRCh37Chr 13, 32906609: 32906609
908BRCA2NM_000059.3(BRCA2): c.1321dupA (p.Thr441Asnfs)duplicationPathogenicrs80359281GRCh37Chr 13, 32906936: 32906937
909BRCA2NM_000059.3(BRCA2): c.2834_2835delAA (p.Lys945Argfs)deletionPathogenicrs80359356GRCh37Chr 13, 32911326: 32911327
910BRCA2NM_000059.3(BRCA2): c.5961G> T (p.Gln1987His)single nucleotide variantLikely pathogenicrs387907575GRCh37Chr 13, 32914453: 32914453
911BRCA2NM_000059.3(BRCA2): c.5195delT (p.Leu1732Profs)deletionPathogenicGRCh37Chr 13, 32913687: 32913687
912BRCA2NM_000059.3(BRCA2): c.5343_5344insA (p.Gln1782Thrfs)insertionPathogenicrs398122530GRCh37Chr 13, 32913835: 32913836
913BRCA2NM_000059.3(BRCA2): c.5352delC (p.Asn1784Lysfs)deletionPathogenicrs398122531GRCh37Chr 13, 32913844: 32913844
914BRCA2NM_000059.3(BRCA2): c.5584_5587delGTGA (p.Val1862Lysfs)deletionPathogenicrs398122535GRCh37Chr 13, 32914076: 32914079
915BRCA2NM_000059.3(BRCA2): c.5692delG (p.Asp1898Metfs)deletionPathogenicrs398122539GRCh37Chr 13, 32914184: 32914184
916BRCA2NM_000059.3(BRCA2): c.5842delT (p.Cys1948Valfs)deletionPathogenicrs398122541GRCh37Chr 13, 32914334: 32914334
917BRCA2NM_000059.3(BRCA2): c.6019_6020insTA (p.Thr2007Ilefs)insertionPathogenicrs398122545GRCh37Chr 13, 32914511: 32914512
918BRCA2NM_000059.3(BRCA2): c.6059_6062delAACA (p.Glu2020Valfs)deletionPathogenicrs398122546GRCh37Chr 13, 32914551: 32914554
919BRCA2NM_000059.3(BRCA2): c.635_636delGA (p.Arg212Lysfs)deletionPathogenicrs398122553GRCh37Chr 13, 32903583: 32903584
920BRCA2NM_000059.3(BRCA2): c.6392_6396delAATTA (p.Lys2131Ilefs)deletionPathogenicrs398122555GRCh37Chr 13, 32914884: 32914888
921BRCA2NM_000059.3(BRCA2): c.6405_6408delCTTA (p.Asn2135Lysfs)deletionPathogenicrs398122556GRCh37Chr 13, 32914897: 32914900
922BRCA2NM_000059.3(BRCA2): c.6444delT (p.Ile2149Leufs)deletionPathogenicrs398122557GRCh37Chr 13, 32914936: 32914936
923BRCA2NM_000059.3(BRCA2): c.6487C> T (p.Gln2163Ter)single nucleotide variantPathogenicrs398122559GRCh37Chr 13, 32914979: 32914979
924BRCA2NM_000059.3(BRCA2): c.6586A> T (p.Lys2196Ter)single nucleotide variantPathogenicrs398122561GRCh37Chr 13, 32915078: 32915078
925BRCA2NM_000059.3(BRCA2): c.6627_6628insTA (p.Glu2210Terfs)insertionPathogenicrs398122562GRCh37Chr 13, 32915119: 32915120
926BRCA2NM_000059.3(BRCA2): c.681+1G> Asingle nucleotide variantLikely pathogenicrs398122565GRCh37Chr 13, 32903630: 32903630
927BRCA2NM_000059.3(BRCA2): c.6859_6863delAGAAA (p.Arg2287Leufs)deletionPathogenicrs398122568GRCh37Chr 13, 32918712: 32918716
928BRCA2NM_000059.3(BRCA2): c.6946_6949delAAAG (p.Lys2316Ilefs)deletionPathogenicrs398122571GRCh37Chr 13, 32920972: 32920975
929BRCA2NM_000059.3(BRCA2): c.7142delC (p.Pro2381Hisfs)deletionPathogenicrs398122576GRCh37Chr 13, 32929132: 32929132
930BRCA2NM_000059.3(BRCA2): c.7525dupA (p.Ser2509Lysfs)duplicationPathogenicrs80359656GRCh37Chr 13, 32930654: 32930655
931BRCA2NM_000059.3(BRCA2): c.7556dupC (p.Arg2520Serfs)duplicationPathogenicrs80359660GRCh37Chr 13, 32930685: 32930686
932BRCA2NM_000059.3(BRCA2): c.7865A> G (p.Asn2622Ser)single nucleotide variantLikely pathogenicrs142899125GRCh37Chr 13, 32936719: 32936719
933BRCA2NM_000059.3(BRCA2): c.7890_7891insAA (p.Leu2631Asnfs)insertionPathogenicrs398122593GRCh37Chr 13, 32936744: 32936745
934BRCA2NM_000059.3(BRCA2): c.8200_8209delCCTCCCCTCT (p.Pro2734Terfs)deletionPathogenicrs398122599GRCh37Chr 13, 32937539: 32937548
935BRCA2NM_000059.3(BRCA2): c.8308delG (p.Ala2770Profs)deletionPathogenicrs398122601GRCh37Chr 13, 32937647: 32937647
936BRCA2NM_000059.3(BRCA2): c.8331+2T> Asingle nucleotide variantPathogenicrs398122602GRCh37Chr 13, 32937672: 32937672
937BRCA2NM_000059.3(BRCA2): c.8374delC (p.Gly2793Aspfs)deletionPathogenicrs398122605GRCh37Chr 13, 32944581: 32944581
938BRCA2NM_000059.3(BRCA2): c.8581A> T (p.Arg2861Ter)single nucleotide variantPathogenicrs398122608GRCh37Chr 13, 32945186: 32945186
939BRCA2NM_000059.3(BRCA2): c.9060delT (p.Glu3021Lysfs)deletionPathogenicrs398122609GRCh37Chr 13, 32953993: 32953993
940BRCA2NM_000059.3(BRCA2): c.9127G> T (p.Glu3043Ter)single nucleotide variantPathogenicrs398122610GRCh37Chr 13, 32954153: 32954153
941BRCA2NM_000059.3(BRCA2): c.9252_9255delAACAinsTT (p.Lys3084Asnfs)indelPathogenicrs276174918GRCh37Chr 13, 32954278: 32954281
942BRCA2NM_000059.3(BRCA2): c.9376delC (p.Gln3126Serfs)deletionPathogenicrs398122612GRCh37Chr 13, 32968945: 32968945
943BRCA2NM_000059.3(BRCA2): c.9573G> A (p.Trp3191Ter)single nucleotide variantPathogenicrs398122617GRCh37Chr 13, 32971106: 32971106
944BRCA2NM_000059.3(BRCA2): c.9682delA (p.Ser3228Valfs)deletionPathogenicrs398122618GRCh37Chr 13, 32972332: 32972332
945BRCA2NM_000059.3(BRCA2): c.9808delG (p.Ala3270Profs)deletionPathogenicrs398122622GRCh37Chr 13, 32972458: 32972458
946BRCA2NM_000059.3(BRCA2): c.9824delG (p.Ser3275Ilefs)deletionPathogenicrs398122623GRCh37Chr 13, 32972474: 32972474
947BRCA2LRG_293p1: p.Asp3095Gluprotein onlyPathogenic
948BRCA2LRG_293p1: p.Leu557Terprotein onlyPathogenic
949BRCA2LRG_293p1: p.Met1Ileprotein onlyPathogenic
950BRCA2LRG_293p1: p.Ser1630Terprotein onlyPathogenic
951BRCA2LRG_293p1: p.Ser1760Terprotein onlyPathogenic
952BRCA2LRG_293p1: p.Ser1882Terprotein onlyPathogenic
953BRCA2LRG_293p1: p.Ser1955Terprotein onlyPathogenic
954BRCA2LRG_293p1: p.Ser1970Terprotein onlyPathogenic
955BRCA2LRG_293p1: p.Ser2984Terprotein onlyPathogenic
956BRCA2LRG_293p1: p.Ser2994Terprotein onlyPathogenic
957BRCA2LRG_293p1: p.Ser611Terprotein onlyPathogenic
958BRCA2LRG_293p1: p.Ser780Terprotein onlyPathogenic
959BRCA2LRG_293p1: p.Ser869Terprotein onlyPathogenic
960BRCA2LRG_293p1: p.Trp2586Terprotein onlyPathogenic
961BRCA2LRG_293p1: p.Trp3127Terprotein onlyPathogenic
962BRCA2LRG_293p1: p.Trp993Terprotein onlyPathogenic
963BRCA2LRG_293p1: p.Tyr1655Terprotein onlyPathogenic
964BRCA2LRG_293p1: p.Tyr1894Terprotein onlyPathogenic
965BRCA2LRG_293p1: p.Tyr3308Terprotein onlyPathogenic
966BRCA2LRG_293p1: p.Tyr792Terprotein onlyPathogenic
967BRCA2NM_000059.3(BRCA2): c.8633-1G> Asingle nucleotide variantLikely pathogenicrs398122711GRCh37Chr 13, 32950806: 32950806
968BRCA2NM_000059.3(BRCA2): c.8839G> T (p.Glu2947Ter)single nucleotide variantPathogenicrs398122715GRCh37Chr 13, 32953538: 32953538
969BRCA2NM_000059.3(BRCA2): c.8933C> G (p.Ser2978Ter)single nucleotide variantPathogenicrs80359144GRCh37Chr 13, 32953632: 32953632
970BRCA2NM_000059.3(BRCA2): c.1399_1402delAAGA (p.Lys467Glufs)deletionPathogenicrs398122726GRCh37Chr 13, 32907014: 32907017
971BRCA2NM_000059.3(BRCA2): c.1642C> T (p.Gln548Ter)single nucleotide variantPathogenicrs398122729GRCh37Chr 13, 32907257: 32907257
972BRCA2NM_000059.3(BRCA2): c.1819A> T (p.Lys607Ter)single nucleotide variantPathogenicrs80358471GRCh37Chr 13, 32907434: 32907434
973BRCA2NM_000059.3(BRCA2): c.186delT (p.Phe62Leufs)deletionPathogenicrs398122733GRCh37Chr 13, 32893332: 32893332
974BRCA2NM_000059.3(BRCA2): c.1945C> T (p.Gln649Ter)single nucleotide variantPathogenicrs398122735GRCh37Chr 13, 32910437: 32910437
975BRCA2NM_000059.3(BRCA2): c.2025delA (p.Cys676Valfs)deletionPathogenicrs398122737GRCh37Chr 13, 32910517: 32910517
976BRCA2NM_000059.3(BRCA2): c.217C> T (p.Gln73Ter)single nucleotide variantPathogenicrs398122741GRCh37Chr 13, 32893363: 32893363
977BRCA2NM_000059.3(BRCA2): c.2214T> A (p.Cys738Ter)single nucleotide variantPathogenicrs398122742GRCh37Chr 13, 32910706: 32910706
978BRCA2NM_000059.3(BRCA2): c.2253_2254delTG (p.Asp752Leufs)deletionPathogenicrs398122744GRCh37Chr 13, 32910745: 32910746
979BRCA2NM_000059.3(BRCA2): c.2330dupA (p.Asp777Glufs)duplicationPathogenicrs80359328GRCh37Chr 13, 32910822: 32910823
980BRCA2NM_000059.3(BRCA2): c.2368G> T (p.Glu790Ter)single nucleotide variantPathogenicrs398122746GRCh37Chr 13, 32910860: 32910860
981BRCA2NM_000059.3(BRCA2): c.2370delA (p.Glu790Aspfs)deletionPathogenicrs398122747GRCh37Chr 13, 32910862: 32910862
982BRCA2NM_000059.3(BRCA2): c.2617dupA (p.Ile873Asnfs)duplicationPathogenicrs398122748GRCh37Chr 13, 32911109: 32911110
983BRCA2NM_000059.3(BRCA2): c.2618dupT (p.Thr874Asnfs)duplicationPathogenicrs398122749GRCh37Chr 13, 32911110: 32911111
984BRCA2NM_000059.3(BRCA2): c.2692_2696delAGGAA (p.Arg898Terfs)deletionPathogenicrs398122752GRCh37Chr 13, 32911184: 32911188
985BRCA2NM_000059.3(BRCA2): c.2808delA (p.Lys936Asnfs)deletionPathogenicrs398122753GRCh37Chr 13, 32911300: 32911300
986BRCA2NM_000059.3(BRCA2): c.3326delC (p.Ala1109Glufs)deletionPathogenicrs398122762GRCh37Chr 13, 32911818: 32911818
987BRCA2NM_000059.3(BRCA2): c.3336delA (p.Glu1113Asnfs)deletionPathogenicrs398122763GRCh37Chr 13, 32911828: 32911828
988BRCA2NM_000059.3(BRCA2): c.3708dupA (p.Ala1237Serfs)duplicationPathogenicrs398122769GRCh37Chr 13, 32912200: 32912201
989BRCA2NM_000059.3(BRCA2): c.3873delA (p.Gln1291Hisfs)deletionPathogenicrs398122772GRCh37Chr 13, 32912365: 32912365
990BRCA2NM_000059.3(BRCA2): c.4000_4001delTT (p.Leu1334Argfs)deletionPathogenicrs398122775GRCh37Chr 13, 32912492: 32912493
991BRCA2NM_000059.3: c.410_411ins8insertionPathogenicrs483353080GRCh37Chr 13, 32899306: 32899307
992BRCA2NM_000059.3(BRCA2): c.4211delC (p.Ser1404Terfs)deletionPathogenicrs398122777GRCh37Chr 13, 32912703: 32912703
993BRCA2NM_000059.3(BRCA2): c.426-2A> Gsingle nucleotide variantPathogenicrs398122779GRCh37Chr 13, 32900236: 32900236
994BRCA2NM_000059.3(BRCA2): c.4325C> G (p.Ser1442Ter)single nucleotide variantPathogenicrs80358670GRCh37Chr 13, 32912817: 32912817
995BRCA2NM_000059.3(BRCA2): c.4552delG (p.Glu1518Asnfs)deletionPathogenicrs398122783GRCh37Chr 13, 32913044: 32913044
996BRCA2NM_000059.3(BRCA2): c.4847T> G (p.Leu1616Ter)single nucleotide variantPathogenicrs398122786GRCh37Chr 13, 32913339: 32913339
997BRCA2NM_000059.3(BRCA2): c.4964dupA (p.Tyr1655Terfs)duplicationPathogenicrs398122789GRCh37Chr 13, 32913456: 32913457
998BRCA2NM_000059.3(BRCA2): c.4990_4991delAT (p.Ile1664Terfs)deletionPathogenicrs398122790GRCh37Chr 13, 32913482: 32913483
999BRCA2NM_000059.3(BRCA2): c.5054C> A (p.Ser1685Ter)single nucleotide variantPathogenicrs398122791GRCh37Chr 13, 32913546: 32913546
1000BRCA2NM_000059.3(BRCA2): c.512dupT (p.Lys172Glufs)duplicationPathogenicrs398122793GRCh37Chr 13, 32900415: 32900416
1001BRCA2NM_000059.3(BRCA2): c.5215delT (p.Tyr1739Ilefs)deletionPathogenicrs398122796GRCh37Chr 13, 32913707: 32913707
1002BRCA2BRCA2, 6-BP DEL, PHE-TERdeletionPathogenic
1003BRCA2NM_000059.3(BRCA2): c.6275_6276delTT (p.Leu2092Profs)deletionPathogenicrs11571658GRCh37Chr 13, 32914767: 32914768
1004BRCA2NM_000059.3(BRCA2): c.6591_6592delTG (p.Glu2198Asnfs)deletionPathogenicrs80359605GRCh37Chr 13, 32915083: 32915084
1005BRCA2NM_000059.3(BRCA2): c.5722_5723delCT (p.Leu1908Argfs)deletionPathogenicrs80359531GRCh37Chr 13, 32914214: 32914215
1006BRCA2BRCA2, 1-BP DELdeletionPathogenic
1007BRCA2BRCA2, 4-BP DELdeletionPathogenic
1008BRCA2BRCA2, 1-BP DEL, 8525CdeletionPathogenic
1009BRCA2NM_000059.3(BRCA2): c.3904_3906delACT (p.Thr1302del)deletionPathogenicrs80359414GRCh37Chr 13, 32912396: 32912398
1010BRCA2NM_000059.3(BRCA2): c.5946delT (p.Ser1982Argfs)deletionPathogenicrs80359550GRCh37Chr 13, 32914438: 32914438
1011BRCA2NM_000059.3(BRCA2): c.771_775delTCAAA (p.Asn257Lysfs)deletionPathogenicrs80359675GRCh37Chr 13, 32905145: 32905149
1012BRCA2BRCA2, 1-BP INS, 3295AinsertionPathogenic
1013BRCA2NM_000059.3(BRCA2): c.8537_8538delAG (p.Glu2846Glyfs)deletionPathogenicrs80359716GRCh37Chr 13, 32945142: 32945143
1014BRCA2NM_000059.3(BRCA2): c.1114A> C (p.Asn372His)single nucleotide variantPathogenicrs144848GRCh37Chr 13, 32906729: 32906729
1015BRCA2BRCA2, IVS23AS, A-G, -2single nucleotide variantPathogenic
1016BRCA2BRCA2, 4-BP DEL, NT3034deletionPathogenic
1017BRCA2NM_000059.3(BRCA2): c.8165C> G (p.Thr2722Arg)single nucleotide variantPathogenicrs80359062GRCh37Chr 13, 32937504: 32937504
1018BRCA2NM_000059.3(BRCA2): c.658_659delGT (p.Val220Ilefs)deletionPathogenicrs80359604GRCh37Chr 13, 32903606: 32903607
1019BRCA2NM_000059.3(BRCA2): c.8219T> A (p.Leu2740Ter)single nucleotide variantPathogenicrs80359070GRCh37Chr 13, 32937558: 32937558
1020BRCA2NM_000059.3(BRCA2): c.4648G> T (p.Glu1550Ter)single nucleotide variantPathogenicrs80358695GRCh37Chr 13, 32913140: 32913140
1021BRCA2NM_000059.3(BRCA2): c.7529T> C (p.Leu2510Pro)single nucleotide variantPathogenicrs80358979GRCh37Chr 13, 32930658: 32930658
1022BRCA2NM_000059.3(BRCA2): c.5645C> G (p.Ser1882Ter)single nucleotide variantPathogenicrs80358785GRCh37Chr 13, 32914137: 32914137
1023BRCA2NM_000059.3(BRCA2): c.9196C> T (p.Gln3066Ter)single nucleotide variantPathogenicrs80359180GRCh37Chr 13, 32954222: 32954222
1024BRCA2NM_000059.3(BRCA2): c.631+1G> Asingle nucleotide variantPathogenicrs81002897GRCh37Chr 13, 32900751: 32900751
1025BRCA2NM_000059.3(BRCA2): c.631+2T> Gsingle nucleotide variantPathogenicrs81002899GRCh37Chr 13, 32900752: 32900752
1026BRCA2NM_000059.3(BRCA2): c.1907C> G (p.Ser636Ter)single nucleotide variantLikely pathogenicrs431825288GRCh37Chr 13, 32907522: 32907522
1027BRCA2NM_000059.3(BRCA2): c.2091dupA (p.Leu698Thrfs)duplicationPathogenicrs431825292GRCh37Chr 13, 32910583: 32910584
1028BRCA2NM_000059.3(BRCA2): c.2840delT (p.Leu947Trpfs)deletionPathogenicrs431825300GRCh37Chr 13, 32911332: 32911332
1029BRCA2NM_000059.3(BRCA2): c.3386dupA (p.Phe1130Valfs)duplicationPathogenicrs431825305GRCh37Chr 13, 32911878: 32911879
1030BRCA2NM_000059.3(BRCA2): c.3477C> A (p.Cys1159Ter)single nucleotide variantPathogenicrs431825307GRCh37Chr 13, 32911969: 32911969
1031BRCA2NM_000059.3(BRCA2): c.3779delT (p.Leu1260Tyrfs)deletionPathogenicrs431825312GRCh37Chr 13, 32912271: 32912271
1032BRCA2NM_000059.3(BRCA2): c.3856_3859delAAAA (p.Lys1286Ilefs)deletionPathogenicrs431825313GRCh37Chr 13, 32912348: 32912351
1033BRCA2NM_000059.3(BRCA2): c.3939C> G (p.Tyr1313Ter)single nucleotide variantPathogenicrs80358641GRCh37Chr 13, 32912431: 32912431
1034BRCA2NM_000059.3(BRCA2): c.4085delA (p.His1362Profs)deletionPathogenicrs431825315GRCh37Chr 13, 32912577: 32912577
1035BRCA2NM_000059.3(BRCA2): c.4519delC (p.Gln1507Argfs)deletionPathogenicrs431825321GRCh37Chr 13, 32913011: 32913011
1036BRCA2NM_000059.3(BRCA2): c.4936_4937delGA (p.Glu1646Asnfs)deletionPathogenicrs431825323GRCh37Chr 13, 32913428: 32913429
1037BRCA2NM_000059.3(BRCA2): c.4976_4977insG (p.Tyr1661Leufs)insertionPathogenicrs431825325GRCh37Chr 13, 32913468: 32913469
1038BRCA2NM_000059.3(BRCA2): c.5378delA (p.Asn1793Metfs)deletionPathogenicrs431825330GRCh37Chr 13, 32913870: 32913870
1039BRCA2NM_000059.3(BRCA2): c.5578A> T (p.Lys1860Ter)single nucleotide variantPathogenicrs431825332GRCh37Chr 13, 32914070: 32914070
1040BRCA2NM_000059.3(BRCA2): c.6211delA (p.Ser2071Valfs)deletionPathogenicrs431825338GRCh37Chr 13, 32914703: 32914703
1041BRCA2NM_000059.3(BRCA2): c.6397dupT (p.Ser2133Phefs)duplicationPathogenicrs431825342GRCh37Chr 13, 32914889: 32914890
1042BRCA2NM_000059.3(BRCA2): c.6602delC (p.Ser2201Leufs)deletionPathogenicrs431825343GRCh37Chr 13, 32915094: 32915094
1043BRCA2NM_000059.3(BRCA2): c.6959T> A (p.Leu2320Ter)single nucleotide variantPathogenicrs80358923GRCh37Chr 13, 32920985: 32920985
1044BRCA2NM_000059.3(BRCA2): c.715delA (p.Ser239Valfs)deletionPathogenicrs431825350GRCh37Chr 13, 32905089: 32905089
1045BRCA2NM_000059.3(BRCA2): c.8463delT (p.Ile2822Phefs)deletionPathogenicrs431825365GRCh37Chr 13, 32944670: 32944670
1046BRCA2NM_000059.3(BRCA2): c.8632+1G> Tsingle nucleotide variantLikely pathogenicrs397507997GRCh37Chr 13, 32945238: 32945238
1047BRCA2NM_000059.3(BRCA2): c.8837T> A (p.Leu2946Ter)single nucleotide variantPathogenicrs431825371GRCh37Chr 13, 32953536: 32953536
1048BRCA2NM_000059.3(BRCA2): c.8975_9100del126 (p.Pro2992_Thr3033del)deletionLikely pathogenicrs80359736GRCh37Chr 13, 32953908: 32954033
1049BRCA2NM_000059.3(BRCA2): c.9256+1G> Csingle nucleotide variantPathogenicrs81002883GRCh37Chr 13, 32954283: 32954283
1050BRCA2LRG_293p1: p.Gly2793Argprotein onlyPathogenic
1051BRCA2LRG_293p1: p.Ser3200Terprotein onlyPathogenic

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

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Expression patterns in normal tissues for genes affiliated with Breast-Ovarian Cancer, Familial, 2

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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Compounds 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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Products for genes affiliated with Breast-Ovarian Cancer, Familial, 2

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  • Antibodies
  • Proteins
  • Lysates

Sources for Breast-Ovarian Cancer, Familial, 2

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet