MCID: BRC085
MIFTS: 44

Brca2 Hereditary Breast and Ovarian Cancer Syndrome malady

Categories: Genetic diseases, Rare diseases, Cancer diseases

Aliases & Classifications for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

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Aliases & Descriptions for Brca2 Hereditary Breast and Ovarian Cancer Syndrome:

Name: Brca2 Hereditary Breast and Ovarian Cancer Syndrome 47
Familial Susceptibility to Breast-Ovarian Cancer 2 47 26
Brca2 Hereditary Breast and Ovarian Cancer 24
Malignant Neoplasm of Breast 67
 
Breast Carcinoma 67
Breast Cancer 24
Brovca2 47
Hboc 47

Classifications:



Summaries for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

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MalaCards based summary: Brca2 Hereditary Breast and Ovarian Cancer Syndrome, also known as familial susceptibility to breast-ovarian cancer 2, is related to estrogen-receptor negative breast cancer and familial breast cancer, and has symptoms including pelvic pain An important gene associated with Brca2 Hereditary Breast and Ovarian Cancer Syndrome is BRCA2 (BRCA2, DNA Repair Associated), and among its related pathways are FOXM1 transcription factor network and BARD1 signaling events. Affiliated tissues include breast and testes, and related mouse phenotypes are limbs/digits/tail and embryo.

Related Diseases for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

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Diseases related to Brca2 Hereditary Breast and Ovarian Cancer Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 608)
idRelated DiseaseScoreTop Affiliating Genes
1estrogen-receptor negative breast cancer33.0BRCA1, BRCA2
2familial breast cancer31.5APC, BRCA1, BRCA2, CHEK2, PALB2
3ductal carcinoma in situ31.0BRCA1, BRCA2
4breast cancer, childhood30.9APC, BRCA1, BRCA2, CHEK2, PALB2
5breast cancer30.9APC, ATM, BRCA1, BRCA2, BRIP1, CHEK2
6cutaneous lupus erythematosus29.7BRCA1, BRCA2
7leiomyosarcoma29.6BRCA1, BRCA2
8brca1 and brca2 hereditary breast and ovarian cancer12.4
9bilateral breast cancer12.2
10estrogen-receptor positive breast cancer12.0
11sporadic breast cancer12.0
12female breast cancer11.9
13progesterone-receptor positive breast cancer11.9
14triple-receptor negative breast cancer11.9
15progesterone-receptor negative breast cancer11.9
16androgen insensitivity, partial, with or without breast cancer11.8
17inflammatory breast carcinoma11.8
18her2-receptor positive breast cancer11.8
19her2-receptor negative breast cancer11.8
20bard1-related susceptibility to breast cancer11.7
21brip1-related breast cancer11.7
22chek2-related susceptibility to breast cancer11.7
23rad51-related susceptibility to breast cancer11.7
24gastric cancer risk after h. pylori infection11.5
25breast-ovarian cancer, familial, 211.4
26breast-ovarian cancer, familial 411.4
27breast-ovarian cancer, familial, 111.4
28breast-ovarian cancer, familial 311.4
29li-fraumeni syndrome11.4
30breast fibroadenoma11.2
31adenocarcinoma11.1
32paraneoplastic cerebellar degeneration11.1
33paraneoplastic syndromes11.1
34breast sarcoma11.1
35breast fibroadenosis10.9
36comedo carcinoma10.9
37obesity10.9
38precocious puberty, central, 210.7
39precocious puberty, central, 110.7
40fibrosclerosis of breast10.7
41ocular cancer10.7
42hereditary breast ovarian cancer10.7
43luminal breast carcinoma10.7
44breast metaplastic carcinoma10.7
45brca1 hereditary breast and ovarian cancer syndrome10.7
46endotheliitis10.6
47renal cell carcinoma10.6
48hypoxia10.5
49lymphedema10.5
50prostatitis10.5

Graphical network of the top 20 diseases related to Brca2 Hereditary Breast and Ovarian Cancer Syndrome:



Diseases related to brca2 hereditary breast and ovarian cancer syndrome

Symptoms for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

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UMLS symptoms related to Brca2 Hereditary Breast and Ovarian Cancer Syndrome:


pelvic pain

Drugs & Therapeutics for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

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Drugs for Brca2 Hereditary Breast and Ovarian Cancer Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
OlaparibapprovedPhase 1, Phase 2126763113-22-023725625
Synonyms:
4-(3-{[4-(cyclopropylcarbonyl)piperazin-1-yl]carbonyl}-4-fluorobenzyl)phthalazin-1(2H)-one
4-[(3-{[4-Cyclopropylcarbonyl)piperazin-4-yl]carbonyl}-4-fluorophenyl)methyl]phtalazin-1(2H)-one
4-[3-(4-Cyclopropanecarbonyl-piperazine-1-carbonyl)-4-fluoro-benzyl]-2H-phthalazin-1-one
763113-22-0
937799-91-2
AKOS005145764
AZD 2281
AZD-2281
AZD2281
 
Acylpiperazine analogue, 47
CHEMBL521686
EC-000.2324
EN002690
FT-0083489
KU-0059436
KU-59436
Olaparib
Olaparib, KU-0059436, AZD2281, KU0059436, AZD2281
S1060_Selleck
olaparib
2Poly(ADP-ribose) Polymerase InhibitorsPhase 1, Phase 2309
3AntibodiesPhase 1, Phase 26045
4ImmunoglobulinsPhase 1, Phase 26045
5
tremelimumabPhase 1, Phase 294
Synonyms:
206
CP675
 
CP675206
Ticilimumab
tremelimumab
6Antibodies, MonoclonalPhase 1, Phase 23795
7
CarboplatinapprovedPhase 1198041575-94-410339178, 498142, 38904
Synonyms:
(SP-4-2)-diammine[cyclobutane-1,1-dicarboxylato(2-)-kappa(2)O,O']platinum
/h1-3H2,(H,7,8)(H,9,10)
/q
1,1-Cyclobutanedicarboxylate diammine platinum (II)
1,1-Cyclobutanedicarboxylate diammine platinum(II)
2*-1
2*1H2
41575-94-4
70903-55-8
AC-1457
AC1L8I6U
Ambap41575-94-4
BSPBio_003145
C 2538
C2043
C2538_SIGMA
C6H10N2O4Pt
CBDCA
CCRIS 3404
CHEBI:31355
CHEMBL1351
CHEMBL288376
CID10339178
CID2567
CID38904
CID426756
CID498142
CID5352133
CID6398587
CID6603770
Carbopaltin
Carboplatin
Carboplatin (JAN/USP/INN)
Carboplatin (USAN)
Carboplatin [USAN:INN:BAN:JAN]
Carboplatine
Carboplatine [French]
Carboplatino
Carboplatino [Spanish]
Carboplatinum
Carboplatinum [Latin]
Cbdca
Cyclobutane-1,1-dicarboxylate
D01363
DB00958
Diammine(1,1-cyclobutanedicarboxylato)platinum (II)
Diammine(cyclobutane-1,1-dicarboxylato(2-)-O,O')platinum
Diammine-1,1-cyclobutane dicarboxylate platinum II
DivK1c_000892
EINECS 255-446-0
EU-0100230
Ercar
HMS1921J16
HMS2090M05
HMS2092B22
HMS502M14
HSDB 6957
I14-2390
IDI1_000892
IUPAC: Azane
InChI=1/C6H8O4.2H2N.Pt/c7-4(8)6(5(9)10)2-1-3-6
 
JM 8
JM-8
KBio1_000892
KBio2_002009
KBio2_004577
KBio2_007145
KBio3_002645
KBioGR_000713
KBioSS_002009
LS-117689
Lopac-C-2538
Lopac0_000230
MolPort-003-665-501
MolPort-003-845-609
NCGC00015223-01
NCGC00093695-01
NCGC00094961-01
NCGC00094961-02
NCGC00094961-03
NCGC00162099-01
NCGC00162099-02
NCGC00167800-01
NCGC00178242-01
NINDS_000892
NSC 201345
NSC 241240
NSC-241240
NSC201345
NSC241240
Paraplatin
Paraplatin (TN)
Paraplatin, Carboplatin
Paraplatin-AQ
Platinum(+2) Cation
Platinum(II), (1, 1-cyclobutanedicar
Platinum, diammine(1,1-cyclobutanedicarboxylato(2-)-O,O')-, (SP-4-2)
Platinum, {diammine[1,1-cyclobut
S1215_Selleck
SPBio_000716
SPECTRUM1502106
Spectrum2_000898
Spectrum3_001503
Spectrum4_000337
Spectrum5_001094
Spectrum_001529
UNII-BG3F62OND5
azanide
carboplatin
cis -Diammine[1,1-cyclobutane-dicarboxylato] platinum
cis-(1,1-Cyclobutanedicarboxylato)diammineplatinum(II)
cis-(1,1-Cyclobutanedicarboxylato)diammineplatinum(ii)
cis-Diamine(1,1-cyclobutanedicarboxylato)platinum(II)
cis-Diamine[1,1-cyclobutanedicarboxylato]platinum(II)
cis-Diammine(1,1-cyclobutanedicarboxylato) platinum
cis-Diammine(1,1-cyclobutanedicarboxylato)platinum
cis-Diammine(1,1-cyclobutanedicarboxylato)platinum(II)
cis-Diammine(cyclobutanedicarboxylato)platinum II
cyclobutane-1,1-dicarboxylic acid
diammine[cyclobutane-1,1-dicarboxylato(2-)-k2O1,O1]platinum
nchembio.573-comp10
nchembio773-comp2
nchembio873-comp3
platinum(2+)
8
Paclitaxelapproved, vet_approvedPhase 1275833069-62-436314
Synonyms:
(2AR-(2aalpha,4beta,4abeta,6beta,9alpha(alpha r*,betas*),11alpha,12alpha,12balpha))-beta-(benzoylamino)-alpha-hydroxybenzenepropanoic acid 6,12b-bis(acetyloxy)-12-(benzoyloxy)-2a,3,4,4a,5,6,9,10,11,12,12a,12b-dodecahydro-4,11-dihydroxy-4a,8,13,13-tetramethyl-5-oxo-7,11-methano-1H-cyclodeca(3,4)benz(1,2-b)oxet-9-yl ester
12-benzoate, 9-ester with (2R,3S)-N-benzoyl-3-phenylisoserine
157069-30-2
33069-62-4
5beta,20-Epoxy-1,2-alpha,4,7beta,10beta,13alpha-hexahydroxytax-11-en-9-one 4,10-diacetate 2-benzoate 13-ester with (2R,3S)-N-benzoyl-3-phenylisoserine
7,11-Methano-1H-cyclodeca[3,4]benz[1,2-b]oxete, benzenepropanoic acid deriv.
7,11-Methano-5H-cyclodeca[3,4]benz[1,2-b]oxete,benzenepropanoic acid deriv.
7-Epi-Paclitaxel
7-Epi-Taxol
7-Epipaclitaxel
7-Epitaxol
7-epi-Paclitaxel
7-epi-Taxol
AB00513812
ABI 007
ABI-007
ABI007
AC-675
AC1L1IOG
AC1L1VJI
AC1L9AVF
ACon1_002231
ANX-513
Abraxane
Abraxane (TN)
Abraxane I.V. Suspension
Abraxis BioScience brand of albumin-bound paclitaxel
Ambotz33069-62-4
Anzatax
Asotax
BIDD:PXR0046
BMS 181339-01
BMS-181339
BMS-181339-01
BPBio1_000320
BRD-A23723433-001-01-2
BRD-A28746609-001-04-0
BRD-K62008436-001-03-1
BSPBio_000290
BSPBio_001152
BSPBio_002614
Bio-0076
Bio1_000362
Bio1_000851
Bio1_001340
Bio2_000416
Bio2_000896
Bristaxol
C07394
C466458
C47H51NO14
CCRIS 8143
CHEBI:103439
CHEBI:45863
CHEMBL100910
CHEMBL418410
CHEMBL48
CID36314
CID441276
CID4666
CID6713921
CID6915727
CPD-8718
Capxol
D00491
DB01229
DHP-107
DHP-208
DRG-0190
DTS-301
DivK1c_000441
EU-0101201
Ebetaxel
EmPAC
Epitaxol
Genaxol
Genetaxyl
Genexol
Genexol-PM
HMS1362J13
HMS1568O12
HMS1792J13
HMS1922K08
HMS1990J13
HMS2090D07
HMS2093K15
HMS501G03
HSDB 6839
I06-0014
IDI1_000441
IDI1_002171
Intaxel
KBio1_000441
KBio2_000492
KBio2_002016
KBio2_002509
KBio2_003060
KBio2_004584
KBio2_005077
KBio2_005628
KBio2_007152
KBio2_007645
KBio3_000903
KBio3_000904
KBio3_001834
KBio3_002987
KBioGR_000492
KBioGR_001893
 
KBioGR_002509
KBioSS_000492
KBioSS_002016
KBioSS_002517
LMPR0104390001
LS-31070
LipoPac
Lopac0_001201
MBT 0206
MEGxp0_001940
MLS000863266
MLS001077297
MLS002154218
MLS002172439
MLS002695976
MPI-5018
Micellar Paclitaxel
Mitotax
MolPort-001-742-627
MolPort-003-665-783
MolPort-003-932-365
NCGC00024995-02
NCGC00024995-03
NCGC00024995-04
NCGC00024995-05
NCGC00024995-06
NCGC00024995-07
NCGC00164367-01
NCGC00164367-02
NCGC00164367-03
NCI60_000601
NINDS_000441
NK 105
NP-010981
NSC 125973
NSC-125973
NSC125973
NSC358882
Nanotaxel
Neuro_000060
Nova-12005
OAS-PAC-100
OncoGel
Onxal
Onxol
Onxol, Taxol, Nov-Onxol, Paclitaxel
P1632
Paclical
Pacligel
Paclitaxel
Paclitaxel (JAN/USP)
Paclitaxel (JAN/USP/INN)
Paclitaxel (Taxol)
Paclitaxel [USAN:INN:BAN]
Paxceed
Paxene
Paxoral
Plaxicel
Praxel
Prestwick0_000155
Prestwick1_000155
Prestwick2_000155
Prestwick3_000155
Probes2_000350
QW 8184
S-8184 Paclitaxel Injectable Emulsion
S1150_Selleck
SDCCGMLS-0066823.P001
SDP-013
SMP1_000228
SMR000394086
SMR000857385
SPBio_000943
SPBio_002229
SPECTRUM1503908
ST50306996
Spectrum2_000872
Spectrum3_001057
Spectrum4_001197
Spectrum5_001491
Spectrum_001536
T 7402
T1912_SIGMA
T7191_SIGMA
T7402_SIGMA
TA1
TAXOL (TN)
TAXOL, 10-EPI,
TXL
TaxAlbin
Taxol
Taxol A
Taxol Konzentrat
Taxol.RTM. (Registered Trademark)
UNII-P88XT4IS4D
UPCMLD-DP108:001
UPCMLD-DP108:002
Vascular Wrap
Xorane
Yewtaxan
abi-007
albumin-bound paclitaxel
cMAP_000068
nab-paclitaxel
nchembio.188-comp1
nchembio.2007.34-comp9
nchembio.215-comp9
nchembio853-comp6
paclitaxel
weekly paclitaxel
9
VeliparibinvestigationalPhase 195912444-00-911960529
Synonyms:
(2R)-2-(7-carbamoyl-1H-benzimidazol-2-yl)-2-methylpyrrolidinium
2-((2R)-2-methylpyrrolidin-2-yl)-1H-benzimidazole-4-carboxamide
 
ABT 888
ABT-888
veliparib
10Albumin-Bound PaclitaxelPhase 12757
11Antineoplastic Agents, PhytogenicPhase 15420
12Antimitotic AgentsPhase 15498
13
Pancrelipaseapproved93553608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
PA
 
Pancreatic alpha-amylase precursor
Pancrelipase (amylase
lipase
protease)
14pancreatin935

Interventional clinical trials:

(show all 16)
idNameStatusNCT IDPhase
1Methods in Education for Breast Cancer GeneticsActive, not recruitingNCT00001806Phase 3
2Search Allelic Imbalance of Expression of BRCA Genes in Hereditary Risk of Breast and/or Ovarian CancerCompletedNCT01333748Phase 2
3Trial of Inquiry Based Stress Reduction (IBSR) Program for BRCA1/2 Mutation CarriersCompletedNCT01367639Phase 2
4PARP-inhibition and CTLA-4 Blockade in BRCA-deficient Ovarian CancerRecruitingNCT02571725Phase 1, Phase 2
5Family Gene ToolkitSuspendedNCT02154633Phase 2
6Veliparib, Carboplatin, and Paclitaxel in Treating Patients With Advanced Solid CancerCompletedNCT00535119Phase 1
7Veliparib in Treating Patients With Malignant Solid Tumors That Do Not Respond to Previous TherapyActive, not recruitingNCT00892736Phase 1
8Risk Education and Assessment for Cancer HeredityCompletedNCT01346761
9Triple Negative Breast Cancer and Germline Hereditary Breast and Ovarian Cancer Mutation Carrier RegistryRecruitingNCT02302742
10Cancer Genetics Hereditary Cancer Panel TestingRecruitingNCT02324062
11Pancreatic Cancer GeneticsRecruitingNCT01102569
12C-PATROL - Non-interventional Study (NIS) to Collect Clinical and Patient Reported Outcome Data in an Olaparib Treated BRCAm+ PSR Ovarian Cancer PopulationRecruitingNCT02503436
13Clinical, Genetic, Behavioral, Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Breast/Ovarian CancerActive, not recruitingNCT00040222
14Genetic Counseling for Breast Cancer Survivors (GC for BC)Active, not recruitingNCT02451735
15Culturally-Informed Counseling in Latinas at High Risk for Hereditary Breast or Ovarian CancerActive, not recruitingNCT01230346
16Family Communication of Hereditary Breast and Ovarian Cancer Risk Among African AmericansTerminatedNCT01374685

Search NIH Clinical Center for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

Genetic Tests for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

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Genetic tests related to Brca2 Hereditary Breast and Ovarian Cancer Syndrome:

id Genetic test Affiliating Genes
1 Breast-Ovarian Cancer, Familial 226
2 Brca2 Hereditary Breast and Ovarian Cancer24 BRCA2

Anatomical Context for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

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MalaCards organs/tissues related to Brca2 Hereditary Breast and Ovarian Cancer Syndrome:

35
Breast, Testes

Animal Models for Brca2 Hereditary Breast and Ovarian Cancer Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Brca2 Hereditary Breast and Ovarian Cancer Syndrome:

40 (show all 17)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.2APC, BRCA1, BRCA2, PALB2
2MP:00053808.7APC, ATM, BRCA1, BRCA2, PALB2
3MP:00107718.7APC, ATM, BRCA1, BRCA2, PALB2
4MP:00053798.6APC, ATM, BRCA1, BRCA2, BRIP1
5MP:00053898.5APC, ATM, BRCA1, BRCA2, BRIP1
6MP:00036318.1APC, ATM, BRCA1, BRCA2, BRIP1, PALB2
7MP:00053768.0APC, ATM, BRCA1, BRCA2, BRIP1, CHEK2
8MP:00053847.6APC, ATM, BRCA1, BRCA2, BRIP1, CHEK2
9MP:00020067.6APC, ATM, BRCA1, BRCA2, BRIP1, CHEK2

Publications for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

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Variations for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

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Clinvar genetic disease variations for Brca2 Hereditary Breast and Ovarian Cancer Syndrome:

5 (show all 1,305)
id Gene Variation Type Significance SNP ID Assembly Location
1PALB2NM_024675.3(PALB2): c.3549C> G (p.Tyr1183Ter)SNVLikely pathogenic, Pathogenic, risk factorrs118203998GRCh37Chr 16, 23614792: 23614792
2PALB2NM_024675.3(PALB2): c.2962C> T (p.Gln988Ter)SNVPathogenic, risk factorrs118203999GRCh37Chr 16, 23634324: 23634324
3BRCA2NM_000059.3(BRCA2): c.891_899delAACAGTTGTinsGATACTTCAG (p.Thr298Ilefs)indelPathogenicrs276174914GRCh38Chr 13, 32332369: 32332377
4BRCA2NM_000059.3(BRCA2): c.1190_1191insTTAG (p.Gln397Hisfs)insertionPathogenicrs80359266GRCh37Chr 13, 32906805: 32906806
5BRCA2NM_000059.3(BRCA2): c.1408dupG (p.Glu470Glyfs)duplicationPathogenicrs80359284GRCh37Chr 13, 32907023: 32907023
6BRCA2NM_000059.3(BRCA2): c.2212dupT (p.Cys738Leufs)duplicationPathogenicrs80359325GRCh38Chr 13, 32336567: 32336567
7BRCA2NM_000059.3(BRCA2): c.2833_2834insTT (p.Lys945Ilefs)insertionPathogenicrs80359355GRCh37Chr 13, 32911325: 32911326
8BRCA2NM_000059.3(BRCA2): c.2899_2900delCT (p.Leu967Argfs)deletionPathogenicrs80359361GRCh37Chr 13, 32911391: 32911392
9BRCA2NM_000059.3(BRCA2): c.3362C> A (p.Ser1121Ter)SNVPathogenicrs80358579GRCh37Chr 13, 32911854: 32911854
10BRCA2NM_000059.3(BRCA2): c.4131_4132insTGAGGA (p.Thr1378_Gly1712delinsTer)insertionPathogenicrs80359429GRCh38Chr 13, 32338486: 32338487
11BRCA2NM_000059.3(BRCA2): c.5222_5225delGTAA (p.Ser1741Thrfs)deletionPathogenicrs80359498GRCh38Chr 13, 32339577: 32339580
12BRCA2NM_000059.3(BRCA2): c.5682C> A (p.Tyr1894Ter)SNVPathogenicrs41293497GRCh37Chr 13, 32914174: 32914174
13BRCA2NM_000059.3(BRCA2): c.489_490insG (p.Leu164Valfs)insertionPathogenicrs120074205GRCh37Chr 13, 32900392: 32900393
14BRCA2NM_000059.3(BRCA2): c.7977-1G> TSNVPathogenicrs81002874GRCh38Chr 13, 32363178: 32363178
15BRCA2NM_000059.3(BRCA2): c.8745_8748dupTTAC (p.Glu2918Profs)duplicationPathogenicrs80359727GRCh38Chr 13, 32376782: 32376785
16BRCA2NM_000059.3(BRCA2): c.8969G> A (p.Trp2990Ter)SNVPathogenicrs80359148GRCh37Chr 13, 32953902: 32953902
17BRCA2NM_000059.3(BRCA2): c.9672dupA (p.Tyr3225Ilefs)duplicationPathogenicrs80359773GRCh37Chr 13, 32972322: 32972322
18PALB2NM_024675.3(PALB2): c.1027C> T (p.Gln343Ter)SNVPathogenic, risk factorrs180177097GRCh38Chr 16, 23635519: 23635519
19PALB2NM_024675.3(PALB2): c.1592delT (p.Leu531Cysfs)deletionPathogenic, risk factorrs180177102GRCh38Chr 16, 23634954: 23634954
20PALB2NM_024675.3(PALB2): c.2323C> T (p.Gln775Ter)SNVPathogenic, risk factorrs180177111GRCh38Chr 16, 23629831: 23629831
21PALB2NM_024675.3(PALB2): c.3113G> A (p.Trp1038Ter)SNVLikely pathogenic, Pathogenic, risk factorrs180177132GRCh38Chr 16, 23621362: 23621362
22PALB2NM_024675.3(PALB2): c.3116delA (p.Asn1039Ilefs)deletionLikely pathogenic, Pathogenic, risk factorrs180177133GRCh38Chr 16, 23614089: 23614089
23BRCA2NM_000059.3(BRCA2): c.9152delC (p.Pro3051Hisfs)deletionPathogenicrs587779349GRCh37Chr 13, 32954178: 32954178
24BRCA2NM_000059.3(BRCA2): c.3351delA (p.Leu1118Terfs)deletionPathogenicrs587781436GRCh38Chr 13, 32337706: 32337706
25BRCA2NM_000059.3(BRCA2): c.6331_6332delAA (p.Lys2111Glufs)deletionPathogenicrs587781470GRCh38Chr 13, 32340686: 32340687
26BRCA2NM_000059.3(BRCA2): c.2339C> G (p.Ser780Ter)SNVPathogenicrs587781471GRCh38Chr 13, 32336694: 32336694
27BRCA2NM_000059.3(BRCA2): c.7877G> A (p.Trp2626Ter)SNVPathogenicrs587781506GRCh37Chr 13, 32936731: 32936731
28BRCA2NM_000059.3(BRCA2): c.6702delT (p.Phe2234Leufs)deletionPathogenicrs587781516GRCh37Chr 13, 32915194: 32915194
29BRCA2NM_000059.3(BRCA2): c.9041C> G (p.Ser3014Ter)SNVPathogenicrs80359156GRCh37Chr 13, 32953974: 32953974
30BRCA2NM_000059.3(BRCA2): c.6349dupT (p.Cys2117Leufs)duplicationPathogenicrs587781566GRCh37Chr 13, 32914841: 32914841
31BRCA2NM_000059.3(BRCA2): c.2918C> A (p.Ser973Ter)SNVPathogenicrs397507296GRCh37Chr 13, 32911410: 32911410
32BRCA2NM_000059.3(BRCA2): c.6308C> G (p.Ser2103Ter)SNVPathogenicrs80358870GRCh37Chr 13, 32914800: 32914800
33BRCA2NM_000059.3(BRCA2): c.5422_5423delAT (p.Ile1808Leufs)deletionPathogenicrs587781585GRCh37Chr 13, 32913914: 32913915
34BRCA2NM_000059.3(BRCA2): c.1909+1G> ASNVLikely pathogenic, Pathogenicrs587781629GRCh37Chr 13, 32907525: 32907525
35BRCA2NM_000059.3(BRCA2): c.7855dupT (p.Trp2619Leufs)duplicationPathogenicrs587781665GRCh37Chr 13, 32936709: 32936709
36BRCA2NM_000059.3(BRCA2): c.8384_8395delTTCCTGACCCTA (p.Phe2795_Ser3133delinsTer)deletionPathogenicrs587781689GRCh37Chr 13, 32944591: 32944602
37BRCA2NM_000059.3(BRCA2): c.8948_8953+5delATTCAGGTAAGdeletionLikely pathogenic, Pathogenicrs276174915GRCh37Chr 13, 32953647: 32953657
38BRCA2NM_000059.3(BRCA2): c.9770_9773delAAGA (p.Lys3257Argfs)deletionPathogenicrs587781772GRCh37Chr 13, 32972420: 32972423
39BRCA2NM_000059.3(BRCA2): c.6816_6820delAAGAG (p.Gly2274Alafs)deletionPathogenicrs587781803GRCh37Chr 13, 32915308: 32915312
40BRCA2NM_000059.3(BRCA2): c.1428_1431delTCAT (p.His477Glnfs)deletionPathogenicrs587781804GRCh37Chr 13, 32907043: 32907046
41BRCA2NM_000059.3(BRCA2): c.5362dupT (p.Ser1788Phefs)duplicationPathogenicrs587781849GRCh37Chr 13, 32913854: 32913854
42BRCA2NM_000059.3(BRCA2): c.3411dupG (p.Gln1138Alafs)duplicationPathogenicrs587781850GRCh37Chr 13, 32911903: 32911903
43BRCA2NM_000059.3(BRCA2): c.429delT (p.Val144Leufs)deletionPathogenicrs587781945GRCh37Chr 13, 32900241: 32900241
44BRCA2NM_000059.3(BRCA2): c.8608C> T (p.Gln2870Ter)SNVPathogenicrs587782010GRCh37Chr 13, 32945213: 32945213
45BRCA2NM_000059.3(BRCA2): c.5557delT (p.Cys1853Valfs)deletionPathogenicrs587782011GRCh37Chr 13, 32914049: 32914049
46BRCA2NM_000059.3(BRCA2): c.3176_3177delTG (p.Leu1059Glnfs)deletionPathogenicrs587782022GRCh38Chr 13, 32337531: 32337532
47BRCA2NM_000059.3(BRCA2): c.7777G> T (p.Gly2593Ter)SNVPathogenicrs587782028GRCh37Chr 13, 32932038: 32932038
48BRCA2NM_000059.3(BRCA2): c.5171_5172dupTA (p.Ala1725Terfs)duplicationPathogenicrs587782075GRCh38Chr 13, 32339526: 32339527
49BRCA2NM_000059.3(BRCA2): c.2312T> G (p.Leu771Ter)SNVPathogenicrs587782095GRCh37Chr 13, 32910804: 32910804
50BRCA2NM_000059.3(BRCA2): c.5583delA (p.Val1862Terfs)deletionPathogenicrs587782161GRCh37Chr 13, 32914075: 32914075
51BRCA2NM_000059.3(BRCA2): c.8954-1_8955delGTTinsAAindelPathogenicrs276174916GRCh37Chr 13, 32953886: 32953888
52BRCA2NM_000059.3(BRCA2): c.2570dupT (p.Arg858Lysfs)duplicationPathogenicrs587782361GRCh38Chr 13, 32336925: 32336925
53BRCA2NM_000059.3(BRCA2): c.3296C> A (p.Ser1099Ter)SNVPathogenicrs397507663GRCh38Chr 13, 32337651: 32337651
54BRCA2NM_000059.3(BRCA2): c.9194_9195delTT (p.Phe3065Serfs)deletionPathogenicrs587782378GRCh37Chr 13, 32954220: 32954221
55BRCA2NM_000059.3(BRCA2): c.5159C> A (p.Ser1720Ter)SNVPathogenicrs80358740GRCh37Chr 13, 32913651: 32913651
56BRCA2NM_000059.3(BRCA2): c.425+1G> ASNVLikely pathogenic, Pathogenicrs587782590GRCh37Chr 13, 32899322: 32899322
57BRCA2NM_000059.3(BRCA2): c.5386_5387delGA (p.Asp1796Cysfs)deletionPathogenicrs587782598GRCh38Chr 13, 32339741: 32339742
58BRCA2NM_000059.3(BRCA2): c.5470_5471delAA (p.Asn1824Cysfs)deletionPathogenicrs587782605GRCh38Chr 13, 32339825: 32339826
59BRCA2NM_000059.3(BRCA2): c.1447dupG (p.Ala483Glyfs)duplicationPathogenicrs587782611GRCh38Chr 13, 32332925: 32332925
60BRCA2NM_000059.3(BRCA2): c.3412C> T (p.Gln1138Ter)SNVPathogenicrs587782613GRCh38Chr 13, 32337767: 32337767
61BRCA2NM_000059.3(BRCA2): c.6703_6704delAT (p.Met2235Glyfs)deletionPathogenicrs587782667GRCh38Chr 13, 32341058: 32341059
62BRCA2NM_000059.3(BRCA2): c.3358delG (p.Glu1120Asnfs)deletionPathogenicrs587782672GRCh38Chr 13, 32337713: 32337713
63BRCA2NM_000059.3(BRCA2): c.6091dupA (p.Thr2031Asnfs)duplicationPathogenicrs587782717GRCh38Chr 13, 32340446: 32340446
64BRCA2NM_000059.3(BRCA2): c.8332-2A> GSNVLikely pathogenic, Pathogenicrs587782774GRCh38Chr 13, 32370400: 32370400
65BRCA2NM_000059.3(BRCA2): c.2059_2063delGATTA (p.Asp687Terfs)deletionPathogenicrs587782780GRCh38Chr 13, 32336414: 32336418
66BRCA2NM_000059.3(BRCA2): c.6226_6229delGTTA (p.Val2076Argfs)deletionPathogenicrs587782799GRCh38Chr 13, 32340581: 32340584
67BRCA2NM_000059.3(BRCA2): c.4821_4823delTGAinsC (p.Glu1608Aspfs)indelPathogenicrs587782854GRCh38Chr 13, 32339176: 32339178
68BRCA2NM_000059.3(BRCA2): c.5715dupT (p.Asn1906Terfs)duplicationPathogenicrs587782901GRCh37Chr 13, 32914207: 32914207
69BRCA2NM_000059.3(BRCA2): c.8490G> A (p.Trp2830Ter)SNVPathogenicrs587776351GRCh37Chr 13, 32945095: 32945095
70BRCA2NM_000059.3(BRCA2): c.6044T> A (p.Leu2015Ter)SNVPathogenicrs587776468GRCh38Chr 13, 32340399: 32340399
71BRCA2NM_000059.3(BRCA2): c.787dupA (p.Ser263Lysfs)duplicationPathogenicrs690016538GRCh38Chr 13, 32331024: 32331024
72BRCA2NM_000059.3(BRCA2): c.3280A> T (p.Lys1094Ter)SNVPathogenicrs690016539GRCh38Chr 13, 32337635: 32337635
73BRCA2NM_000059.3(BRCA2): c.3291dupT (p.Asn1098Terfs)duplicationPathogenicrs690016540GRCh38Chr 13, 32337646: 32337646
74BRCA2NM_000059.3(BRCA2): c.3641delT (p.Val1214Glyfs)deletionPathogenicrs690016542GRCh38Chr 13, 32337996: 32337996
75BRCA1NM_007294.3(BRCA1): c.3607C> T (p.Arg1203Ter)SNVPathogenicrs62625308GRCh37Chr 17, 41243941: 41243941
76BRCA2NM_000059.3(BRCA2): c.517G> C (p.Gly173Arg)SNVPathogenicrs397507768GRCh38Chr 13, 32326499: 32326499
77BRCA2NM_000059.3(BRCA2): c.3172A> T (p.Lys1058Ter)SNVPathogenicrs730881521GRCh38Chr 13, 32337527: 32337527
78BRCA2NM_000059.3(BRCA2): c.6685G> T (p.Glu2229Ter)SNVPathogenicrs730881548GRCh38Chr 13, 32341040: 32341040
79BRCA2NM_000059.3(BRCA2): c.8978C> G (p.Ser2993Ter)SNVPathogenicrs397508025GRCh38Chr 13, 32379774: 32379774
80BRCA2NM_000059.3(BRCA2): c.9648+1G> CSNVPathogenicrs730881573GRCh38Chr 13, 32397045: 32397045
81BRCA2NM_000059.3(BRCA2): c.8174G> A (p.Trp2725Ter)SNVPathogenicrs730881581GRCh38Chr 13, 32363376: 32363376
82BRCA2NM_000059.3(BRCA2): c.670_673dupGATA (p.Thr225Argfs)duplicationPathogenicrs730881601GRCh37Chr 13, 32903618: 32903621
83BRCA2NM_000059.3(BRCA2): c.2380dupA (p.Met794Asnfs)duplicationPathogenicrs730881602GRCh38Chr 13, 32336735: 32336735
84BRCA2NM_000059.3(BRCA2): c.3010delA (p.Ser1004Valfs)deletionPathogenicrs730881604GRCh38Chr 13, 32337365: 32337365
85BRCA2NM_000059.3(BRCA2): c.4112dupA (p.Phe1372Valfs)duplicationPathogenicrs730881606GRCh38Chr 13, 32338467: 32338467
86BRCA2NM_000059.3(BRCA2): c.4168_4169delTT (p.Leu1390Glyfs)deletionPathogenicrs730881607GRCh38Chr 13, 32338523: 32338524
87BRCA2NM_000059.3(BRCA2): c.4277delC (p.Thr1426Asnfs)deletionPathogenicrs730881608GRCh38Chr 13, 32338632: 32338632
88BRCA2NM_000059.3(BRCA2): c.4824_4825delGA (p.Glu1608Aspfs)deletionPathogenicrs730881610GRCh37Chr 13, 32913316: 32913317
89BRCA2NM_000059.3(BRCA2): c.6267_6270dupGCAT (p.Ser2091Alafs)duplicationPathogenicrs730881611GRCh38Chr 13, 32340622: 32340625
90BRCA2NM_000059.3(BRCA2): c.7588delC (p.Gln2530Lysfs)deletionPathogenicrs730881613GRCh38Chr 13, 32356580: 32356580
91BRCA2NM_000059.3(BRCA2): c.7979_7991delATGATACGGAAAT (p.Tyr2660Leufs)deletionPathogenicrs730881614GRCh38Chr 13, 32363181: 32363193
92BRCA2NM_000059.3(BRCA2): c.8174_8185delGGTATGCTGTTAinsTT (p.Trp2725Phefs)indelPathogenicrs730881615GRCh38Chr 13, 32363376: 32363387
93BRCA2NM_000059.3(BRCA2): c.9728delC (p.Pro3243Leufs)deletionPathogenicrs730881618GRCh37Chr 13, 32972378: 32972378
94BRCA2NM_000059.3(BRCA2): c.9891_9894dupATTT (p.Gln3299Ilefs)duplicationPathogenicrs730881619GRCh38Chr 13, 32398404: 32398407
95BRCA2NM_000059.3(BRCA2): c.3820_3823delAAGA (p.Lys1274Terfs)deletionPathogenicrs730881620GRCh38Chr 13, 32338175: 32338178
96BRCA2NM_000059.3(BRCA2): c.7976+5G> ASNVPathogenicrs786201180GRCh37Chr 13, 32936835: 32936835
97BRCA2NM_000059.3(BRCA2): c.5934dupT (p.Ser1979Terfs)duplicationPathogenicrs80359548GRCh37Chr 13, 32914426: 32914426
98BRCA2NM_000059.3(BRCA2): c.1308_1309delGA (p.Lys437Argfs)deletionPathogenicrs786201950GRCh37Chr 13, 32906923: 32906924
99BRCA2NM_000059.3(BRCA2): c.1552delG (p.Ala518Glnfs)deletionPathogenicrs786201986GRCh37Chr 13, 32907167: 32907167
100BRCA2NM_000059.3(BRCA2): c.5763delT (p.Phe1921Leufs)deletionPathogenicrs786202061GRCh37Chr 13, 32914255: 32914255
101BRCA2NM_000059.3(BRCA2): c.8332-1G> TSNVPathogenicrs397507979GRCh37Chr 13, 32944538: 32944538
102BRCA2NM_000059.3(BRCA2): c.593_596delTAGCinsAGG (p.Leu198Terfs)indelPathogenicrs786202156GRCh37Chr 13, 32900712: 32900715
103BRCA2NM_000059.3(BRCA2): c.6663_6664insAAAG (p.Tyr2222Lysfs)insertionPathogenicrs786202157GRCh37Chr 13, 32915155: 32915156
104BRCA2NM_000059.3(BRCA2): c.3365delG (p.Gly1122Glufs)deletionPathogenicrs786202160GRCh37Chr 13, 32911857: 32911857
105BRCA2NM_000059.3(BRCA2): c.8996dupT (p.Leu3000Valfs)duplicationPathogenicrs786202353GRCh37Chr 13, 32953929: 32953929
106BRCA2NM_000059.3(BRCA2): c.5353delA (p.Thr1785Leufs)deletionPathogenicrs786202385GRCh37Chr 13, 32913845: 32913845
107BRCA2NM_000059.3(BRCA2): c.4246C> T (p.Gln1416Ter)SNVPathogenicrs786202421GRCh37Chr 13, 32912738: 32912738
108BRCA2NM_000059.3(BRCA2): c.7301delA (p.Lys2434Serfs)deletionPathogenicrs786202441GRCh37Chr 13, 32929291: 32929291
109BRCA2NM_000059.3(BRCA2): c.6155C> A (p.Ser2052Ter)SNVPathogenicrs786202461GRCh37Chr 13, 32914647: 32914647
110BRCA2NM_000059.3(BRCA2): c.5635G> T (p.Glu1879Ter)SNVPathogenicrs55996097GRCh37Chr 13, 32914127: 32914127
111BRCA2NM_000059.3(BRCA2): c.7097dupT (p.Thr2367Aspfs)duplicationPathogenicrs786202600GRCh37Chr 13, 32929087: 32929087
112BRCA2NM_000059.3(BRCA2): c.5862_5863delTT (p.Ser1955Argfs)deletionPathogenicrs786202700GRCh37Chr 13, 32914354: 32914355
113BRCA2NM_000059.3(BRCA2): c.1855delC (p.Gln619Serfs)deletionPathogenicrs786202756GRCh37Chr 13, 32907470: 32907470
114BRCA2NM_000059.3(BRCA2): c.1163_1166dupTACC (p.Ser390Thrfs)duplicationPathogenicrs786202789GRCh37Chr 13, 32906778: 32906781
115BRCA2NM_000059.3(BRCA2): c.799G> T (p.Gly267Ter)SNVPathogenicrs786202796GRCh37Chr 13, 32906414: 32906414
116BRCA2NM_000059.3(BRCA2): c.2494G> T (p.Glu832Ter)SNVPathogenicrs786202875GRCh37Chr 13, 32910986: 32910986
117BRCA2NM_000059.3(BRCA2): c.8875G> T (p.Glu2959Ter)SNVPathogenicrs786202920GRCh37Chr 13, 32953574: 32953574
118BRCA2NM_000059.3(BRCA2): c.6475C> T (p.Gln2159Ter)SNVPathogenicrs398122558GRCh37Chr 13, 32914967: 32914967
119BRCA2NM_000059.3(BRCA2): c.9352_9353delAT (p.Met3118Valfs)deletionPathogenicrs786203318GRCh37Chr 13, 32968921: 32968922
120BRCA2NM_000059.3(BRCA2): c.3353_3355delTAG (p.Leu1118_Lys1453delinsTer)deletionPathogenicrs786203329GRCh37Chr 13, 32911845: 32911847
121BRCA2NM_000059.3(BRCA2): c.4211_4215delCAAAT (p.Ser1404Terfs)deletionPathogenicrs786203340GRCh37Chr 13, 32912703: 32912707
122BRCA2NM_000059.3(BRCA2): c.6367_6370dupGAAA (p.Lys2124Argfs)duplicationPathogenicrs786203430GRCh37Chr 13, 32914859: 32914862
123BRCA2NM_000059.3(BRCA2): c.4477_4478delGA (p.Glu1493Lysfs)deletionPathogenicrs786203492GRCh37Chr 13, 32912969: 32912970
124BRCA2NM_000059.3(BRCA2): c.4914dupA (p.Val1639Serfs)duplicationPathogenicrs786203494GRCh37Chr 13, 32913406: 32913406
125BRCA2NM_000059.3(BRCA2): c.3836dupA (p.Asn1279Lysfs)duplicationPathogenicrs786203537GRCh37Chr 13, 32912328: 32912328
126BRCA2NM_000059.3(BRCA2): c.7026delA (p.Glu2343Argfs)deletionPathogenicrs786203546GRCh37Chr 13, 32929016: 32929016
127BRCA2NM_000059.3(BRCA2): c.9025delT (p.Tyr3009Ilefs)deletionPathogenicrs786203575GRCh37Chr 13, 32953958: 32953958
128BRCA2NM_000059.3(BRCA2): c.6458delC (p.Pro2153Hisfs)deletionPathogenicrs786203660GRCh37Chr 13, 32914950: 32914950
129BRCA2NM_000059.3(BRCA2): c.7718T> G (p.Leu2573Ter)SNVPathogenicrs786203680GRCh37Chr 13, 32931979: 32931979
130BRCA2NM_000059.3(BRCA2): c.9262delG (p.Ala3088Profs)deletionPathogenicrs786203843GRCh37Chr 13, 32968831: 32968831
131BRCA2NM_000059.3(BRCA2): c.1960G> T (p.Glu654Ter)SNVPathogenicrs786203845GRCh37Chr 13, 32910452: 32910452
132BRCA2NM_000059.3(BRCA2): c.5496dupT (p.Asn1833Terfs)duplicationPathogenicrs786203853GRCh37Chr 13, 32913988: 32913988
133BRCA2NM_000059.3(BRCA2): c.2612C> G (p.Ser871Ter)SNVPathogenicrs397507634GRCh37Chr 13, 32911104: 32911104
134BRCA2NM_000059.3(BRCA2): c.4691dupC (p.Thr1566Aspfs)duplicationPathogenicrs786204209GRCh37Chr 13, 32913183: 32913183
135BRCA2NM_000059.3(BRCA2): c.774_775delAA (p.Glu260Serfs)deletionPathogenicrs786204273GRCh38Chr 13, 32331011: 32331012
136BRCA2NM_000059.3(BRCA2): c.6777_6778delTG (p.Asn2259Lysfs)deletionPathogenicrs786204279GRCh38Chr 13, 32341132: 32341133
137BRCA2NM_000059.3(BRCA2): c.7008-1G> ASNVLikely pathogenic, Pathogenicrs786204280GRCh38Chr 13, 32354860: 32354860
138BRCA2NM_000059.3(BRCA2): c.9281C> G (p.Ser3094Ter)SNVPathogenicrs786204283GRCh38Chr 13, 32394713: 32394713
139BRCA2NM_000059.3(BRCA2): c.2743_2747delACTTG (p.Thr915Cysfs)deletionPathogenicrs786204752GRCh38Chr 13, 32337098: 32337102
140BRCA2NM_000059.3(BRCA2): c.5595_5596delATinsC (p.Phe1866Leufs)indelPathogenicrs797044987GRCh37Chr 13, 32914087: 32914088
141BRCA2NM_000059.3(BRCA2): c.6022A> T (p.Lys2008Ter)SNVPathogenicrs863224467GRCh38Chr 13, 32340377: 32340377
142BRCA2NM_000059.3(BRCA2): c.6842-?_7007+?deldeletionPathogenicChr na, -1: -1
143BRCA2NM_000059.3(BRCA2): c.7872T> G (p.Tyr2624Ter)SNVPathogenicrs863224468GRCh37Chr 13, 32936726: 32936726
144BRCA2NM_000059.3(BRCA2): c.8143A> T (p.Lys2715Ter)SNVPathogenicrs863224469GRCh37Chr 13, 32937482: 32937482
145BRCA2NM_000059.3(BRCA2): c.8420C> A (p.Ser2807Ter)SNVPathogenicrs55763607GRCh38Chr 13, 32370490: 32370490
146BRCA2NM_000059.3(BRCA2): c.1570_1571delAT (p.Met524Aspfs)deletionPathogenicrs863224824GRCh38Chr 13, 32333048: 32333049
147BRCA2NM_000059.3(BRCA2): c.4176delT (p.Ala1393Argfs)deletionPathogenicrs863224825GRCh37Chr 13, 32912668: 32912668
148BRCA2NM_000059.3(BRCA2): c.4515_4525delCTTCCAGGGAC (p.Phe1506Thrfs)deletionPathogenicrs863224827GRCh38Chr 13, 32338870: 32338880
149BRCA2NM_000059.3(BRCA2): c.4587dupG (p.Lys1530Glufs)duplicationPathogenicrs745456776GRCh38Chr 13, 32338942: 32338942
150BRCA2NM_000059.3(BRCA2): c.7946delC (p.Pro2649Glnfs)deletionPathogenicrs863224828GRCh37Chr 13, 32936800: 32936800
151BRCA2NM_000059.3(BRCA2): c.5016C> G (p.Tyr1672Ter)SNVPathogenicrs864622073GRCh38Chr 13, 32339371: 32339371
152BRCA2NM_000059.3(BRCA2): c.8633-?_9256+?deldeletionPathogenicChr na, -1: -1
153BRCA2NM_000059.3(BRCA2): c.6254T> G (p.Leu2085Ter)SNVPathogenicrs864622082GRCh38Chr 13, 32340609: 32340609
154BRCA2NM_000059.3(BRCA2): c.6998dupT (p.Pro2334Thrfs)duplicationPathogenicrs754611265GRCh38Chr 13, 32346887: 32346887
155BRCA2NM_000059.3(BRCA2): c.3649delA (p.Arg1217Glyfs)deletionPathogenicrs864622134GRCh38Chr 13, 32338004: 32338004
156BRCA2NM_000059.3(BRCA2): c.8987T> A (p.Leu2996Ter)SNVPathogenicrs864622200GRCh37Chr 13, 32953920: 32953920
157BRCA2NM_000059.3(BRCA2): c.4740_4741dupTG (p.Glu1581Valfs)duplicationPathogenicrs864622401GRCh37Chr 13, 32913232: 32913233
158BRCA2NM_000059.3(BRCA2): c.7806-?_8331+?deldeletionPathogenicChr na, -1: -1
159BRCA2NM_000059.3(BRCA2): c.144delA (p.Glu49Asnfs)deletionPathogenicrs864622434GRCh37Chr 13, 32893290: 32893290
160BRCA2NM_000059.3(BRCA2): c.9027T> G (p.Tyr3009Ter)SNVPathogenicrs864622568GRCh37Chr 13, 32953960: 32953960
161BRCA2NM_000059.3(BRCA2): c.3191C> G (p.Ser1064Ter)SNVPathogenicrs864622609GRCh37Chr 13, 32911683: 32911683
162BRCA2NM_000059.3(BRCA2): c.3201delT (p.Val1068Tyrfs)deletionPathogenicrs864622672GRCh38Chr 13, 32337556: 32337556
163BRCA2NM_000059.3(BRCA2): c.8902_8913delACCGTGTGGAAGinsTCCC (p.Thr2968Serfs)indelPathogenicrs864622735GRCh38Chr 13, 32379464: 32379475
164BRCA2NM_000059.3(BRCA2): c.67+1G> CSNVLikely pathogenic, Pathogenicrs81002796GRCh38Chr 13, 32316528: 32316528
165BRCA2NM_000059.3: c.156_157insALUinsertionPathogenicChr na, -1: -1
166BRCA2NM_000059.3(BRCA2): c.4619_4623delACAAA (p.Asp1540Glyfs)deletionPathogenicrs869320793GRCh37Chr 13, 32913111: 32913115
167BRCA2NM_000059.3(BRCA2): c.8930delA (p.Tyr2977Phefs)deletionPathogenicrs869320799GRCh37Chr 13, 32953629: 32953629
168BRCA2NM_000059.3(BRCA2): c.1832C> G (p.Ser611Ter)SNVPathogenicrs80358474GRCh37Chr 13, 32907447: 32907447
169BRCA2NM_000059.3(BRCA2): c.3187C> T (p.Gln1063Ter)SNVPathogenicrs876657678GRCh37Chr 13, 32911679: 32911679
170BRCA2NM_000059.3(BRCA2): c.3455T> A (p.Leu1152Ter)SNVPathogenicrs80358593GRCh37Chr 13, 32911947: 32911947
171BRCA2NM_000059.3(BRCA2): c.6596delC (p.Thr2199Ilefs)deletionPathogenicrs876658294GRCh37Chr 13, 32915088: 32915088
172BRCA2NM_000059.3(BRCA2): c.1134delT (p.Ser378Argfs)deletionPathogenicrs876658589GRCh37Chr 13, 32906749: 32906749
173BRCA2NM_000059.3(BRCA2): c.7516C> T (p.Gln2506Ter)SNVPathogenicrs876658631GRCh37Chr 13, 32930645: 32930645
174BRCA2NM_000059.3(BRCA2): c.2641G> T (p.Glu881Ter)SNVPathogenicrs876658648GRCh37Chr 13, 32911133: 32911133
175BRCA2NM_000059.3(BRCA2): c.1943delC (p.Ser648Tyrfs)deletionPathogenicrs876658660GRCh37Chr 13, 32910435: 32910435
176BRCA2NM_000059.3(BRCA2): c.5334_5340delTGTTGAA (p.Asn1778Lysfs)deletionPathogenicrs876658888GRCh37Chr 13, 32913826: 32913832
177BRCA2NM_000059.3(BRCA2): c.2623_2624delGT (p.Val875Glnfs)deletionPathogenicrs876658928GRCh37Chr 13, 32911115: 32911116
178BRCA2NM_000059.3(BRCA2): c.721A> T (p.Lys241Ter)SNVPathogenicrs876659100GRCh37Chr 13, 32905095: 32905095
179BRCA2NM_000059.3(BRCA2): c.9409_9412delACTT (p.Thr3137Tyrfs)deletionPathogenicrs876659211GRCh37Chr 13, 32968978: 32968981
180BRCA2NM_000059.3(BRCA2): c.3405C> A (p.Tyr1135Ter)SNVPathogenicrs876659258GRCh37Chr 13, 32911897: 32911897
181BRCA2NM_000059.3(BRCA2): c.2651C> G (p.Ser884Ter)SNVPathogenicrs777421358GRCh37Chr 13, 32911143: 32911143
182BRCA2NM_000059.3(BRCA2): c.9413dupT (p.Leu3138Phefs)duplicationPathogenicrs876659435GRCh37Chr 13, 32968982: 32968982
183BRCA2NM_000059.3(BRCA2): c.5357delG (p.Ser1786Ilefs)deletionPathogenicrs876659482GRCh37Chr 13, 32913849: 32913849
184BRCA2NM_000059.3(BRCA2): c.8009delC (p.Ser2670Trpfs)deletionPathogenicrs876659606GRCh37Chr 13, 32937348: 32937348
185BRCA2NM_000059.3(BRCA2): c.6332dupA (p.Arg2112Glufs)duplicationPathogenicrs876659617GRCh37Chr 13, 32914824: 32914824
186BRCA2NM_000059.3(BRCA2): c.4245delG (p.Glu1415Aspfs)deletionPathogenicrs767234936GRCh37Chr 13, 32912737: 32912737
187BRCA2NM_000059.3(BRCA2): c.7209_7212delCAAAinsGG (p.Lys2404Glyfs)indelPathogenicrs876659770GRCh37Chr 13, 32929199: 32929202
188BRCA2NM_000059.3(BRCA2): c.4460_4461delAA (p.Lys1487Thrfs)deletionPathogenicrs876660026GRCh37Chr 13, 32912952: 32912953
189BRCA2NM_000059.3(BRCA2): c.9356T> A (p.Leu3119Ter)SNVPathogenicrs80359207GRCh37Chr 13, 32968925: 32968925
190BRCA2NM_000059.3(BRCA2): c.4003G> T (p.Glu1335Ter)SNVPathogenicrs747070579GRCh37Chr 13, 32912495: 32912495
191BRCA2NM_000059.3(BRCA2): c.5669_5673delTGGCA (p.Met1890Argfs)deletionPathogenicrs876660311GRCh37Chr 13, 32914161: 32914165
192BRCA2NM_000059.3(BRCA2): c.7366C> T (p.Gln2456Ter)SNVPathogenicrs397507912GRCh37Chr 13, 32929356: 32929356
193BRCA2NM_000059.3(BRCA2): c.857_860dupCAAT (p.Met287Ilefs)duplicationPathogenicrs876660385GRCh37Chr 13, 32906472: 32906475
194BRCA2NM_000059.3(BRCA2): c.7762_7764delATAinsTT (p.Ile2588Phefs)indelPathogenicrs483353072GRCh37Chr 13, 32932023: 32932025
195BRCA2NM_000059.3(BRCA2): c.2151T> A (p.Cys717Ter)SNVPathogenicrs876660512GRCh37Chr 13, 32910643: 32910643
196BRCA2NM_000059.3(BRCA2): c.6039delA (p.Val2014Tyrfs)deletionPathogenicrs876660637GRCh38Chr 13, 32340394: 32340394
197BRCA2NM_000059.3(BRCA2): c.7007+4A> GSNVPathogenicrs876661201GRCh37Chr 13, 32921037: 32921037
198BRCA2NM_000059.3(BRCA2): c.5962delG (p.Val1988Tyrfs)deletionPathogenicrs876661236GRCh37Chr 13, 32914454: 32914454
199BRCA2NM_000059.3(BRCA2): c.9381G> A (p.Trp3127Ter)SNVPathogenicrs876661242GRCh37Chr 13, 32968950: 32968950
200BRCA2NM_000059.3(BRCA2): c.1189C> T (p.Gln397Ter)SNVPathogenicrs760815829GRCh38Chr 13, 32332667: 32332667
201BRCA2NM_000059.3(BRCA2): c.2095C> T (p.Gln699Ter)SNVPathogenicrs878853559GRCh38Chr 13, 32336450: 32336450
202BRCA2NM_000059.3(BRCA2): c.342_343delTA (p.His114Glnfs)deletionPathogenicrs878853568GRCh37Chr 13, 32899238: 32899239
203BRCA2NM_000059.3(BRCA2): c.3481_3482dupGA (p.Asp1161Glufs)duplicationPathogenicrs878853569GRCh37Chr 13, 32911973: 32911974
204BRCA2NM_000059.3(BRCA2): c.6428C> A (p.Ser2143Ter)SNVPathogenicrs149330893GRCh37Chr 13, 32914920: 32914920
205BRCA2NM_000059.3(BRCA2): c.7147dupT (p.Tyr2383Leufs)duplicationPathogenicrs878853599GRCh37Chr 13, 32929137: 32929137
206BRCA2NM_000059.3(BRCA2): c.5110_5113delAGAA (p.Arg1704Terfs)deletionPathogenicrs879254123GRCh37Chr 13, 32913602: 32913605
207BRCA2NM_000059.3(BRCA2): c.6466_6469delTCTC (p.Ser2156Asnfs)deletionPathogenicrs879255330GRCh37Chr 13, 32914958: 32914961
208BRCA2NM_000059.3(BRCA2): c.-39-?_67+?deldeletionPathogenicChr na, -1: -1
209BRCA2NM_000059.3(BRCA2): c.486delG (p.Ser163Valfs)deletionPathogenicrs587780653GRCh38Chr 13, 32326252: 32326252
210BRCA2NM_000059.3(BRCA2): c.541delT (p.Ser181Leufs)deletionPathogenicrs276174857GRCh37Chr 13, 32900660: 32900660
211BRCA2NM_000059.3(BRCA2): c.2085_2089delGGAAA (p.Glu696Thrfs)deletionPathogenicrs80359321GRCh37Chr 13, 32910577: 32910581
212BRCA2NM_000059.3(BRCA2): c.3293delA (p.Asn1098Ilefs)deletionPathogenicrs690016541GRCh37Chr 13, 32911785: 32911785
213BRCA2NM_000059.3(BRCA2): c.3295delT (p.Ser1099Glnfs)deletionPathogenicrs80359383GRCh37Chr 13, 32911787: 32911787
214BRCA2NM_000059.3(BRCA2): c.3639delA (p.Val1214Trpfs)deletionPathogenicrs80359394GRCh37Chr 13, 32912131: 32912131
215BRCA2NM_000059.3(BRCA2): c.3957_3960delTGAA (p.Asn1319Lysfs)deletionPathogenicrs80359417GRCh37Chr 13, 32912449: 32912452
216BRCA2NM_000059.3(BRCA2): c.5132_5135delTAGG (p.Val1711Glufs)deletionPathogenicrs80359486GRCh37Chr 13, 32913624: 32913627
217BRCA2NM_000059.3(BRCA2): c.5644_5647delTCAA (p.Ser1882Lysfs)deletionPathogenicrs786204172GRCh37Chr 13, 32914136: 32914139
218BRCA2NM_000059.3(BRCA2): c.5720_5723delCTCT (p.Ser1907Terfs)deletionPathogenicrs276174862GRCh37Chr 13, 32914212: 32914215
219BRCA2NM_000059.3(BRCA2): c.5891delA (p.Lys1964Serfs)deletionPathogenicrs276174864GRCh37Chr 13, 32914383: 32914383
220BRCA2NM_000059.3(BRCA2): c.6239delT (p.Leu2080Terfs)deletionPathogenicrs80359569GRCh37Chr 13, 32914731: 32914731
221BRCA2NM_000059.3(BRCA2): c.6434delA (p.Asn2145Ilefs)deletionPathogenicrs80359587GRCh37Chr 13, 32914926: 32914926
222BRCA2NM_000059.3(BRCA2): c.7109_7110delAA (p.Lys2370Ilefs)deletionPathogenicrs80359638GRCh37Chr 13, 32929099: 32929100
223BRCA2NM_000059.3(BRCA2): c.7471delC (p.Gln2491Argfs)deletionPathogenicrs886038170GRCh37Chr 13, 32930600: 32930600
224BRCA2NM_000059.3(BRCA2): c.8648delC (p.Pro2883Hisfs)deletionPathogenicrs276174910GRCh38Chr 13, 32376685: 32376685
225BRCA2NM_000059.3(BRCA2): c.9429_9430delTT (p.Ser3144Cysfs)deletionPathogenicrs80359762GRCh38Chr 13, 32394861: 32394862
226BRCA2NM_000059.3(BRCA2): c.6727delT (p.Ser2243Leufs)deletionPathogenicrs886039320GRCh37Chr 13, 32915219: 32915219
227BRCA2NM_000059.3(BRCA2): c.1212delT (p.Asn404Lysfs)deletionPathogenicrs886039504GRCh37Chr 13, 32906827: 32906827
228BRCA2NM_000059.3(BRCA2): c.3739delA (p.Ile1247Leufs)deletionPathogenicrs886040494GRCh38Chr 13, 32338094: 32338094
229ATMNM_000051.3(ATM): c.7271T> G (p.Val2424Gly)SNVLikely pathogenic, Pathogenic, risk factorrs28904921GRCh37Chr 11, 108199929: 108199929
230BRCA1NM_007294.3(BRCA1): c.5030_5033delCTAA (p.Thr1677Ilefs)deletionPathogenicrs80357580GRCh37Chr 17, 41219666: 41219669
231BRCA1NM_007294.3(BRCA1): c.66dupA (p.Glu23Argfs)duplicationPathogenicrs80357783GRCh37Chr 17, 41276048: 41276048
232BRCA2NM_000059.3(BRCA2): c.1029delA (p.Lys343Asnfs)deletionPathogenicrs80359260GRCh37Chr 13, 32906644: 32906644
233BRCA2NM_000059.3(BRCA2): c.1054dupT (p.Tyr352Leufs)duplicationPathogenicrs80359261GRCh37Chr 13, 32906669: 32906669
234BRCA2NM_000059.3(BRCA2): c.1205delG (p.Gly402Valfs)deletionPathogenicrs397507265GRCh37Chr 13, 32906820: 32906820
235BRCA2NM_000059.3(BRCA2): c.1238delT (p.Leu413Hisfs)deletionPathogenicrs80359271GRCh37Chr 13, 32906853: 32906853
236BRCA2NM_000059.3(BRCA2): c.1257delT (p.Cys419Trpfs)deletionPathogenicrs80359272GRCh37Chr 13, 32906872: 32906872
237BRCA2NM_000059.3(BRCA2): c.1265delA (p.Asn422Ilefs)deletionPathogenicrs80359273GRCh37Chr 13, 32906880: 32906880
238BRCA2NM_000059.3(BRCA2): c.1296_1297delGA (p.Asn433Glnfs)deletionPathogenicrs80359276GRCh37Chr 13, 32906911: 32906912
239BRCA2NM_000059.3(BRCA2): c.1309_1312delAAAG (p.Lys437Ilefs)deletionPathogenicrs80359277GRCh37Chr 13, 32906925: 32906928
240BRCA2NM_000059.3(BRCA2): c.1593dupA (p.Glu532Argfs)duplicationPathogenicrs397507272GRCh37Chr 13, 32907208: 32907208
241BRCA2NM_000059.3(BRCA2): c.1705C> A (p.Gln569Lys)SNVPathogenicrs397507274GRCh37Chr 13, 32907320: 32907320
242BRCA2NM_000059.3(BRCA2): c.1755_1759delGAAAA (p.Lys585Asnfs)deletionPathogenicrs80359302GRCh37Chr 13, 32907370: 32907374
243BRCA2NM_000059.3(BRCA2): c.1796_1800delCTTAT (p.Ser599Terfs)deletionPathogenicrs276174813GRCh37Chr 13, 32907411: 32907415
244BRCA2NM_000059.3(BRCA2): c.1800T> A (p.Tyr600Ter)SNVPathogenicrs80358464GRCh37Chr 13, 32907415: 32907415
245BRCA2NM_000059.3(BRCA2): c.1813dupA (p.Ile605Asnfs)duplicationPathogenicrs80359306GRCh37Chr 13, 32907428: 32907428
246BRCA2NM_000059.3(BRCA2): c.1813delA (p.Ile605Tyrfs)deletionPathogenicrs80359307GRCh37Chr 13, 32907428: 32907428
247BRCA2NM_000059.3(BRCA2): c.1832C> A (p.Ser611Ter)SNVPathogenicrs80358474GRCh37Chr 13, 32907447: 32907447
248BRCA2NM_000059.3(BRCA2): c.1929delG (p.Arg645Glufs)deletionPathogenicrs80359316GRCh37Chr 13, 32910421: 32910421
249BRCA2NM_000059.3(BRCA2): c.1970T> A (p.Leu657Ter)SNVPathogenicrs397507279GRCh37Chr 13, 32910462: 32910462
250BRCA2NM_000059.3(BRCA2): c.2036delA (p.Asn679Ilefs)deletionPathogenicrs80359318GRCh37Chr 13, 32910528: 32910528
251BRCA2NM_000059.3(BRCA2): c.2092delC (p.Leu698Tyrfs)deletionPathogenicrs80359322GRCh37Chr 13, 32910584: 32910584
252BRCA2NM_000059.3(BRCA2): c.2231C> G (p.Ser744Ter)SNVPathogenicrs397507282GRCh37Chr 13, 32910723: 32910723
253BRCA2NM_000059.3(BRCA2): c.2409T> G (p.Tyr803Ter)SNVPathogenicrs80358504GRCh37Chr 13, 32910901: 32910901
254BRCA2NM_000059.3(BRCA2): c.2426T> G (p.Leu809Ter)SNVPathogenicrs397507285GRCh37Chr 13, 32910918: 32910918
255BRCA2NM_000059.3(BRCA2): c.2480dupA (p.Asn827Lysfs)duplicationPathogenicrs397507286GRCh37Chr 13, 32910972: 32910972
256BRCA2NM_000059.3(BRCA2): c.2588dupA (p.Asn863Lysfs)duplicationPathogenicrs80359335GRCh37Chr 13, 32911080: 32911080
257BRCA2NM_000059.3(BRCA2): c.274C> T (p.Gln92Ter)SNVPathogenicrs80358529GRCh37Chr 13, 32893420: 32893420
258BRCA2NM_000059.3(BRCA2): c.2818C> T (p.Gln940Ter)SNVPathogenicrs80358532GRCh37Chr 13, 32911310: 32911310
259BRCA2NM_000059.3(BRCA2): c.2957_2958insG (p.Asn986Lysfs)insertionPathogenicrs80359365GRCh37Chr 13, 32911449: 32911450
260BRCA2NM_000059.3(BRCA2): c.2979G> A (p.Trp993Ter)SNVPathogenicrs80358544GRCh37Chr 13, 32911471: 32911471
261BRCA2NM_000059.3(BRCA2): c.3009_3010delCA (p.His1003Glnfs)deletionPathogenicrs397507300GRCh37Chr 13, 32911501: 32911502
262BRCA2NM_000059.3(BRCA2): c.3109C> T (p.Gln1037Ter)SNVPathogenicrs80358557GRCh37Chr 13, 32911601: 32911601
263BRCA2NM_000059.3(BRCA2): c.3158T> G (p.Leu1053Ter)SNVPathogenicrs41293477GRCh37Chr 13, 32911650: 32911650
264BRCA2NM_000059.3(BRCA2): c.3160_3163delGATA (p.Asp1054Ilefs)deletionPathogenicrs80359371GRCh37Chr 13, 32911652: 32911655
265BRCA2NM_000059.3(BRCA2): c.3170_3174delAGAAA (p.Lys1057Thrfs)deletionPathogenicrs80359373GRCh37Chr 13, 32911662: 32911666
266BRCA2NM_000059.3(BRCA2): c.3264dupT (p.Gln1089Serfs)duplicationPathogenicrs80359380GRCh37Chr 13, 32911756: 32911756
267BRCA2NM_000059.3(BRCA2): c.3545_3546delTT (p.Phe1182Terfs)deletionPathogenicrs80359388GRCh37Chr 13, 32912037: 32912038
268BRCA2NM_000059.3(BRCA2): c.3689delC (p.Ser1230Leufs)deletionPathogenicrs80359398GRCh37Chr 13, 32912181: 32912181
269BRCA2NM_000059.3(BRCA2): c.3717delA (p.Lys1239Asnfs)deletionPathogenicrs80359401GRCh37Chr 13, 32912209: 32912209
270BRCA2NM_000059.3(BRCA2): c.3744_3747delTGAG (p.Ser1248Argfs)deletionPathogenicrs80359403GRCh37Chr 13, 32912236: 32912239
271BRCA2NM_000059.3(BRCA2): c.3847_3848delGT (p.Val1283Lysfs)deletionPathogenicrs80359405GRCh37Chr 13, 32912339: 32912340
272BRCA2NM_000059.3(BRCA2): c.3865_3868delAAAT (p.Lys1289Alafs)deletionPathogenicrs80359412GRCh37Chr 13, 32912357: 32912360
273BRCA2NM_000059.3(BRCA2): c.3922G> T (p.Glu1308Ter)SNVPathogenicrs80358638GRCh37Chr 13, 32912414: 32912414
274BRCA2NM_000059.3(BRCA2): c.396T> A (p.Cys132Ter)SNVPathogenicrs397507320GRCh37Chr 13, 32899292: 32899292
275BRCA2NM_000059.3(BRCA2): c.3delG (p.Met1Ilefs)deletionPathogenicrs80359418GRCh37Chr 13, 32890600: 32890600
276BRCA2NM_000059.3(BRCA2): c.4058_4062delAAACG (p.Glu1353Glyfs)deletionPathogenicrs397507322GRCh37Chr 13, 32912550: 32912554
277BRCA2NM_000059.3(BRCA2): c.407delA (p.Asn136Ilefs)deletionPathogenicrs80359425GRCh37Chr 13, 32899303: 32899303
278BRCA2NM_000059.3(BRCA2): c.4092_4093delAT (p.Ile1364Metfs)deletionPathogenicrs80359426GRCh37Chr 13, 32912584: 32912585
279BRCA2NM_000059.3(BRCA2): c.4127_4130delGAAA (p.Gly1376Alafs)deletionPathogenicrs397507323GRCh37Chr 13, 32912619: 32912622
280BRCA2NM_000059.3(BRCA2): c.4163_4164delCTinsA (p.Thr1388Asnfs)indelPathogenicrs276174843GRCh37Chr 13, 32912655: 32912656
281BRCA2NM_000059.3(BRCA2): c.4222C> T (p.Gln1408Ter)SNVPathogenicrs80358663GRCh37Chr 13, 32912714: 32912714
282BRCA2NM_000059.3(BRCA2): c.4243G> T (p.Glu1415Ter)SNVPathogenicrs397507327GRCh37Chr 13, 32912735: 32912735
283BRCA2NM_000059.3(BRCA2): c.4276dupA (p.Thr1426Asnfs)duplicationPathogenicrs80359438GRCh37Chr 13, 32912768: 32912768
284BRCA2NM_000059.3(BRCA2): c.4284dupT (p.Gln1429Serfs)duplicationPathogenicrs80359439GRCh37Chr 13, 32912776: 32912776
285BRCA2NM_000059.3(BRCA2): c.4405_4409delGACAT (p.Asp1469Lysfs)deletionPathogenicrs397507331GRCh37Chr 13, 32912897: 32912901
286BRCA2NM_000059.3(BRCA2): c.4414_4415delAA (p.Lys1472Glufs)deletionPathogenicrs397507332GRCh37Chr 13, 32912906: 32912907
287BRCA2NM_000059.3(BRCA2): c.4415_4418delAGAA (p.Lys1472Thrfs)deletionPathogenicrs397507333GRCh37Chr 13, 32912907: 32912910
288BRCA2NM_000059.3(BRCA2): c.4449delA (p.Asp1484Thrfs)deletionPathogenicrs80359448GRCh37Chr 13, 32912941: 32912941
289BRCA2NM_000059.3(BRCA2): c.4472_4475delTGAA (p.Leu1491Glnfs)deletionPathogenicrs80359452GRCh37Chr 13, 32912964: 32912967
290BRCA2NM_000059.3(BRCA2): c.4631dupA (p.Asn1544Lysfs)duplicationPathogenicrs80359460GRCh37Chr 13, 32913123: 32913123
291BRCA2NM_000059.3(BRCA2): c.4631delA (p.Asn1544Thrfs)deletionPathogenicrs80359461GRCh37Chr 13, 32913123: 32913123
292BRCA2NM_000059.3(BRCA2): c.4638delT (p.Phe1546Leufs)deletionPathogenicrs80359462GRCh37Chr 13, 32913130: 32913130
293BRCA2NM_000059.3(BRCA2): c.4712_4713delAG (p.Glu1571Glyfs)deletionPathogenicrs80359464GRCh37Chr 13, 32913204: 32913205
294BRCA2NM_000059.3(BRCA2): c.476-1G> ASNVPathogenicrs397507340GRCh37Chr 13, 32900378: 32900378
295BRCA2NM_000059.3(BRCA2): c.476-2A> GSNVPathogenicrs81002853GRCh37Chr 13, 32900377: 32900377
296BRCA2NM_000059.3(BRCA2): c.4876_4877delAA (p.Asn1626Serfs)deletionPathogenicrs80359470GRCh37Chr 13, 32913368: 32913369
297BRCA2NM_000059.3(BRCA2): c.4936_4939delGAAA (p.Glu1646Glnfs)deletionPathogenicrs80359473GRCh37Chr 13, 32913428: 32913431
298BRCA2NM_000059.3(BRCA2): c.4965C> G (p.Tyr1655Ter)SNVPathogenicrs80358721GRCh37Chr 13, 32913457: 32913457
299BRCA2NM_000059.3(BRCA2): c.5035delA (p.Thr1679Leufs)deletionPathogenicrs80359477GRCh37Chr 13, 32913527: 32913527
300BRCA2NM_000059.3(BRCA2): c.5042_5043delTG (p.Val1681Glufs)deletionPathogenicrs80359478GRCh37Chr 13, 32913534: 32913535
301BRCA2NM_000059.3(BRCA2): c.5073dupA (p.Trp1692Metfs)duplicationPathogenicrs80359480GRCh37Chr 13, 32913565: 32913565
302BRCA2NM_000059.3(BRCA2): c.5080A> T (p.Arg1694Ter)SNVPathogenicrs200265692GRCh37Chr 13, 32913572: 32913572
303BRCA2NM_000059.3(BRCA2): c.518delG (p.Gly173Valfs)deletionPathogenicrs80359492GRCh37Chr 13, 32900637: 32900637
304BRCA2NM_000059.3(BRCA2): c.5213_5216delCTTA (p.Thr1738Ilefs)deletionPathogenicrs80359493GRCh37Chr 13, 32913705: 32913708
305BRCA2NM_000059.3(BRCA2): c.5229_5231delTAG (p.Ser1744del)deletionPathogenicrs397507349GRCh37Chr 13, 32913721: 32913723
306BRCA2NM_000059.3(BRCA2): c.5238dupT (p.Asn1747Terfs)duplicationPathogenicrs80359499GRCh37Chr 13, 32913730: 32913730
307BRCA2NM_000059.3(BRCA2): c.5266_5269delGTAT (p.Val1756Ilefs)deletionPathogenicrs80359501GRCh37Chr 13, 32913758: 32913761
308BRCA2NM_000059.3(BRCA2): c.5290_5291delTC (p.Ser1764Lysfs)deletionPathogenicrs80359503GRCh37Chr 13, 32913782: 32913783
309BRCA2NM_000059.3(BRCA2): c.5303_5304delTT (p.Leu1768Argfs)deletionPathogenicrs80359505GRCh37Chr 13, 32913795: 32913796
310BRCA2NM_000059.3(BRCA2): c.5350_5351delAA (p.Asn1784Hisfs)deletionPathogenicrs80359507GRCh37Chr 13, 32913842: 32913843
311BRCA2NM_000059.3(BRCA2): c.5351dupA (p.Asn1784Lysfs)duplicationPathogenicrs80359508GRCh37Chr 13, 32913843: 32913843
312BRCA2NM_000059.3(BRCA2): c.5351delA (p.Asn1784Thrfs)deletionPathogenicrs80359509GRCh37Chr 13, 32913843: 32913843
313BRCA2NM_000059.3(BRCA2): c.5410_5411delGT (p.Val1804Lysfs)deletionPathogenicrs80359512GRCh37Chr 13, 32913902: 32913903
314BRCA2NM_000059.3(BRCA2): c.5471dupA (p.Asn1824Lysfs)duplicationPathogenicrs80359515GRCh37Chr 13, 32913963: 32913963
315BRCA2NM_000059.3(BRCA2): c.5576_5579delTTAA (p.Ile1859Lysfs)deletionPathogenicrs80359520GRCh37Chr 13, 32914068: 32914071
316BRCA2NM_000059.3(BRCA2): c.5595_5596delAT (p.Phe1866Tyrfs)deletionPathogenicrs80359524GRCh37Chr 13, 32914087: 32914088
317BRCA2NM_000059.3(BRCA2): c.5614A> T (p.Lys1872Ter)SNVPathogenicrs80358783GRCh37Chr 13, 32914106: 32914106
318BRCA2NM_000059.3(BRCA2): c.5621_5624delTTAA (p.Ile1874Argfs)deletionPathogenicrs80359526GRCh37Chr 13, 32914113: 32914116
319BRCA2NM_000059.3(BRCA2): c.5631delC (p.Asn1877Lysfs)deletionPathogenicrs397507357GRCh37Chr 13, 32914123: 32914123
320BRCA2NM_000059.3(BRCA2): c.5645C> A (p.Ser1882Ter)SNVPathogenicrs80358785GRCh37Chr 13, 32914137: 32914137
321BRCA2NM_000059.3(BRCA2): c.5655C> A (p.Cys1885Ter)SNVPathogenicrs80358789GRCh37Chr 13, 32914147: 32914147
322BRCA2NM_000059.3(BRCA2): c.5681dupA (p.Tyr1894Terfs)duplicationPathogenicrs80359527GRCh37Chr 13, 32914173: 32914173
323BRCA2NM_000059.3(BRCA2): c.5682C> G (p.Tyr1894Ter)SNVPathogenicrs41293497GRCh37Chr 13, 32914174: 32914174
324BRCA2NM_000059.3(BRCA2): c.574_575delAT (p.Met192Valfs)deletionPathogenicrs80359533GRCh37Chr 13, 32900693: 32900694
325BRCA2NM_000059.3(BRCA2): c.5782G> T (p.Glu1928Ter)SNVPathogenicrs56253082GRCh37Chr 13, 32914274: 32914274
326BRCA2NM_000059.3(BRCA2): c.5799_5802delCCAA (p.Asn1933Lysfs)deletionPathogenicrs80359538GRCh37Chr 13, 32914291: 32914294
327BRCA2NM_000059.3(BRCA2): c.5828delC (p.Ser1943Leufs)deletionPathogenicrs80359541GRCh37Chr 13, 32914320: 32914320
328BRCA2NM_000059.3(BRCA2): c.582G> A (p.Trp194Ter)SNVPathogenicrs80358810GRCh37Chr 13, 32900701: 32900701
329BRCA2NM_000059.3(BRCA2): c.5851_5854delAGTT (p.Ser1951Trpfs)deletionPathogenicrs80359543GRCh37Chr 13, 32914343: 32914346
330BRCA2NM_000059.3(BRCA2): c.5855T> A (p.Leu1952Ter)SNVPathogenicrs375064902GRCh37Chr 13, 32914347: 32914347
331BRCA2NM_000059.3(BRCA2): c.5909C> A (p.Ser1970Ter)SNVPathogenicrs80358824GRCh37Chr 13, 32914401: 32914401
332BRCA2NM_000059.3(BRCA2): c.5980C> T (p.Gln1994Ter)SNVPathogenicrs80358831GRCh37Chr 13, 32914472: 32914472
333BRCA2NM_000059.3(BRCA2): c.6024dupG (p.Gln2009Alafs)duplicationPathogenicrs80359554GRCh37Chr 13, 32914516: 32914516
334BRCA2NM_000059.3(BRCA2): c.6037A> T (p.Lys2013Ter)SNVPathogenicrs80358840GRCh37Chr 13, 32914529: 32914529
335BRCA2NM_000059.3(BRCA2): c.6206T> G (p.Leu2069Ter)SNVPathogenicrs80358859GRCh37Chr 13, 32914698: 32914698
336BRCA2NM_000059.3(BRCA2): c.6267_6269delGCAinsC (p.Glu2089Aspfs)indelPathogenicrs276174868GRCh37Chr 13, 32914759: 32914761
337BRCA2NM_000059.3(BRCA2): c.631G> C (p.Val211Leu)SNVPathogenicrs80358871GRCh37Chr 13, 32900750: 32900750
338BRCA2NM_000059.3(BRCA2): c.6333_6337delGAGAA (p.Arg2112Profs)deletionPathogenicrs397507369GRCh37Chr 13, 32914825: 32914829
339BRCA2NM_000059.3(BRCA2): c.6373dupA (p.Thr2125Asnfs)duplicationPathogenicrs80359577GRCh37Chr 13, 32914865: 32914865
340BRCA2NM_000059.3(BRCA2): c.6405_6409delCTTAA (p.Asn2135Lysfs)deletionPathogenicrs80359584GRCh37Chr 13, 32914897: 32914901
341BRCA2NM_000059.3(BRCA2): c.6434_6441delATAATCAC (p.Asn2145Ilefs)deletionPathogenicrs397507371GRCh37Chr 13, 32914926: 32914933
342BRCA2NM_000059.3(BRCA2): c.6444dupT (p.Ile2149Tyrfs)duplicationPathogenicrs80359590GRCh37Chr 13, 32914936: 32914936
343BRCA2NM_000059.3(BRCA2): c.6468_6469delTC (p.Gln2157Ilefs)deletionPathogenicrs80359596GRCh37Chr 13, 32914960: 32914961
344BRCA2NM_000059.3(BRCA2): c.6486_6489delACAA (p.Lys2162Asnfs)deletionPathogenicrs80359598GRCh37Chr 13, 32914978: 32914981
345BRCA2NM_000059.3(BRCA2): c.6535_6536insA (p.Val2179Aspfs)insertionPathogenicrs80359601GRCh37Chr 13, 32915027: 32915028
346BRCA2NM_000059.3(BRCA2): c.6566dupA (p.Asn2189Lysfs)duplicationPathogenicrs397507373GRCh37Chr 13, 32915058: 32915058
347BRCA2NM_000059.3(BRCA2): c.6641dupC (p.Tyr2215Leufs)duplicationPathogenicrs80359613GRCh37Chr 13, 32915133: 32915133
348BRCA2NM_000059.3(BRCA2): c.6644_6647delACTC (p.Tyr2215Serfs)deletionPathogenicrs80359616GRCh37Chr 13, 32915136: 32915139
349BRCA2NM_000059.3(BRCA2): c.6724_6725delGA (p.Asp2242Phefs)deletionPathogenicrs397507375GRCh37Chr 13, 32915216: 32915217
350BRCA2NM_000059.3(BRCA2): c.688A> T (p.Lys230Ter)SNVPathogenicrs80358913GRCh37Chr 13, 32905062: 32905062
351BRCA2NM_000059.3(BRCA2): c.6941delC (p.Thr2314Lysfs)deletionPathogenicrs80359628GRCh37Chr 13, 32920967: 32920967
352BRCA2NM_000059.3(BRCA2): c.6944_6947delTAAA (p.Ile2315Lysfs)deletionPathogenicrs80359629GRCh37Chr 13, 32920970: 32920973
353BRCA2NM_000059.3(BRCA2): c.6952C> T (p.Arg2318Ter)SNVPathogenicrs80358920GRCh37Chr 13, 32920978: 32920978
354BRCA2NM_000059.3(BRCA2): c.7007G> A (p.Arg2336His)SNVPathogenicrs28897743GRCh37Chr 13, 32921033: 32921033
355BRCA2NM_000059.3(BRCA2): c.700delT (p.Ser234Profs)deletionPathogenicrs80359630GRCh37Chr 13, 32905074: 32905074
356BRCA2NM_000059.3(BRCA2): c.7069_7070delCT (p.Leu2357Valfs)deletionPathogenicrs80359636GRCh37Chr 13, 32929059: 32929060
357BRCA2NM_000059.3(BRCA2): c.7133C> G (p.Ser2378Ter)SNVPathogenicrs276174889GRCh37Chr 13, 32929123: 32929123
358BRCA2NM_000059.3(BRCA2): c.7258G> T (p.Glu2420Ter)SNVPathogenicrs397507385GRCh37Chr 13, 32929248: 32929248
359BRCA2NM_000059.3(BRCA2): c.7379_7382delACAA (p.Asn2460Thrfs)deletionPathogenicrs80359648GRCh37Chr 13, 32929369: 32929372
360BRCA2NM_000059.3(BRCA2): c.7412_7421delCAAAGTGTGA (p.Thr2471Lysfs)deletionPathogenicrs80359649GRCh37Chr 13, 32929402: 32929411
361BRCA2NM_000059.3(BRCA2): c.7414_7415delAA (p.Lys2472Valfs)deletionPathogenicrs80359650GRCh37Chr 13, 32929404: 32929405
362BRCA2NM_000059.3(BRCA2): c.7419_7420delTG (p.Cys2473Terfs)deletionPathogenicrs80359651GRCh37Chr 13, 32929409: 32929410
363BRCA2NM_000059.3(BRCA2): c.7480C> T (p.Arg2494Ter)SNVPathogenicrs80358972GRCh37Chr 13, 32930609: 32930609
364BRCA2NM_000059.3(BRCA2): c.7543dupA (p.Thr2515Asnfs)duplicationPathogenicrs80359657GRCh37Chr 13, 32930672: 32930672
365BRCA2NM_000059.3(BRCA2): c.755_758delACAG (p.Asp252Valfs)deletionPathogenicrs80359659GRCh37Chr 13, 32905129: 32905132
366BRCA2NM_000059.3(BRCA2): c.7567_7568delCT (p.Leu2523Glufs)deletionPathogenicrs80359664GRCh37Chr 13, 32930696: 32930697
367BRCA2NM_000059.3(BRCA2): c.756_757delCA (p.Asp252Glufs)deletionPathogenicrs80359662GRCh37Chr 13, 32905130: 32905131
368BRCA2NM_000059.3(BRCA2): c.7618-1G> ASNVPathogenicrs397507389GRCh37Chr 13, 32931878: 32931878
369BRCA2NM_000059.3(BRCA2): c.7673_7674delAG (p.Glu2558Valfs)deletionPathogenicrs80359672GRCh37Chr 13, 32931934: 32931935
370BRCA2NM_000059.3(BRCA2): c.7758G> A (p.Trp2586Ter)SNVPathogenicrs80359004GRCh37Chr 13, 32932019: 32932019
371BRCA2NM_000059.3(BRCA2): c.778_779delGA (p.Glu260Serfs)deletionPathogenicrs80359677GRCh37Chr 13, 32905152: 32905153
372BRCA2NM_000059.3(BRCA2): c.7857G> A (p.Trp2619Ter)SNVPathogenicrs80359011GRCh37Chr 13, 32936711: 32936711
373BRCA2NM_000059.3(BRCA2): c.7878G> A (p.Trp2626Ter)SNVPathogenicrs80359013GRCh37Chr 13, 32936732: 32936732
374BRCA2NM_000059.3(BRCA2): c.7878G> C (p.Trp2626Cys)SNVPathogenicrs80359013GRCh37Chr 13, 32936732: 32936732
375BRCA2NM_000059.3(BRCA2): c.7913_7917delTTCCT (p.Phe2638Terfs)deletionPathogenicrs80359686GRCh37Chr 13, 32936767: 32936771
376BRCA2NM_000059.3(BRCA2): c.7963C> T (p.Gln2655Ter)SNVPathogenicrs397507395GRCh37Chr 13, 32936817: 32936817
377BRCA2NM_000059.3(BRCA2): c.7974C> G (p.Tyr2658Ter)SNVPathogenicrs80359025GRCh37Chr 13, 32936828: 32936828
378BRCA2NM_000059.3(BRCA2): c.7976G> A (p.Arg2659Lys)SNVPathogenicrs80359027GRCh37Chr 13, 32936830: 32936830
379BRCA2NM_000059.3(BRCA2): c.7977-1G> CSNVPathogenicrs81002874GRCh37Chr 13, 32937315: 32937315
380BRCA2NM_000059.3(BRCA2): c.8168A> G (p.Asp2723Gly)SNVPathogenicrs41293513GRCh37Chr 13, 32937507: 32937507
381BRCA2NM_000059.3(BRCA2): c.8297delC (p.Thr2766Asnfs)deletionPathogenicrs80359705GRCh37Chr 13, 32937636: 32937636
382BRCA2NM_000059.3(BRCA2): c.8322dupT (p.Met2775Tyrfs)duplicationPathogenicrs80359706GRCh37Chr 13, 32937661: 32937661
383BRCA2NM_000059.3(BRCA2): c.8331+1G> ASNVLikely pathogenic, Pathogenicrs81002837GRCh37Chr 13, 32937671: 32937671
384BRCA2NM_000059.3(BRCA2): c.8414_8416delTATinsC (p.Leu2805Serfs)indelPathogenicrs397507402GRCh37Chr 13, 32944621: 32944623
385BRCA2NM_000059.3(BRCA2): c.8486A> G (p.Gln2829Arg)SNVLikely pathogenic, Pathogenicrs80359100GRCh37Chr 13, 32944693: 32944693
386BRCA2NM_000059.3(BRCA2): c.8488-1G> ASNVLikely pathogenic, Pathogenicrs397507404GRCh37Chr 13, 32945092: 32945092
387BRCA2NM_000059.3(BRCA2): c.8501delC (p.Thr2834Asnfs)deletionPathogenicrs80359712GRCh37Chr 13, 32945106: 32945106
388BRCA2NM_000059.3(BRCA2): c.8548_8551delGAAG (p.Glu2850Glnfs)deletionPathogenicrs397507406GRCh37Chr 13, 32945153: 32945156
389BRCA2NM_000059.3(BRCA2): c.8575delC (p.Gln2859Lysfs)deletionPathogenicrs80359718GRCh37Chr 13, 32945180: 32945180
390BRCA2NM_000059.3(BRCA2): c.8585dupT (p.Glu2863Argfs)duplicationPathogenicrs80359720GRCh37Chr 13, 32945190: 32945190
391BRCA2NM_000059.3(BRCA2): c.8633-2A> GSNVPathogenicrs81002886GRCh37Chr 13, 32950805: 32950805
392BRCA2NM_000059.3(BRCA2): c.8677C> T (p.Gln2893Ter)SNVPathogenicrs397507409GRCh37Chr 13, 32950851: 32950851
393BRCA2NM_000059.3(BRCA2): c.8680delC (p.Gln2894Lysfs)deletionPathogenicrs397507410GRCh37Chr 13, 32950854: 32950854
394BRCA2NM_000059.3(BRCA2): c.8695C> T (p.Gln2899Ter)SNVPathogenicrs397507411GRCh37Chr 13, 32950869: 32950869
395BRCA2NM_000059.3(BRCA2): c.8869C> T (p.Gln2957Ter)SNVPathogenicrs276174913GRCh37Chr 13, 32953568: 32953568
396BRCA2NM_000059.3(BRCA2): c.8904delC (p.Val2969Cysfs)deletionPathogenicrs80359730GRCh37Chr 13, 32953603: 32953603
397BRCA2NM_000059.3(BRCA2): c.8946dupA (p.Asp2983Argfs)duplicationPathogenicrs80359733GRCh37Chr 13, 32953645: 32953645
398BRCA2NM_000059.3(BRCA2): c.8951C> G (p.Ser2984Ter)SNVPathogenicrs80359146GRCh37Chr 13, 32953650: 32953650
399BRCA2NM_000059.3(BRCA2): c.8953+1G> TSNVPathogenicrs81002882GRCh37Chr 13, 32953653: 32953653
400BRCA2NM_000059.3(BRCA2): c.9004G> A (p.Glu3002Lys)SNVLikely pathogenic, Pathogenicrs80359152GRCh37Chr 13, 32953937: 32953937
401BRCA2NM_000059.3(BRCA2): c.9026_9030delATCAT (p.Tyr3009Serfs)deletionPathogenicrs80359741GRCh37Chr 13, 32953959: 32953963
402BRCA2NM_000059.3(BRCA2): c.9076C> T (p.Gln3026Ter)SNVPathogenicrs80359159GRCh37Chr 13, 32954009: 32954009
403BRCA2NM_000059.3(BRCA2): c.9097dupA (p.Thr3033Asnfs)duplicationPathogenicrs397507419GRCh37Chr 13, 32954030: 32954030
404BRCA2NM_000059.3(BRCA2): c.9097delA (p.Thr3033Leufs)deletionPathogenicrs397507420GRCh37Chr 13, 32954030: 32954030
405BRCA2NM_000059.3(BRCA2): c.9117G> A (p.Pro3039=)SNVPathogenicrs28897756GRCh37Chr 13, 32954050: 32954050
406BRCA2NM_000059.3(BRCA2): c.9235delG (p.Val3079Phefs)deletionPathogenicrs397507422GRCh37Chr 13, 32954261: 32954261
407BRCA2NM_000059.3(BRCA2): c.9253dupA (p.Thr3085Asnfs)duplicationPathogenicrs80359752GRCh37Chr 13, 32954279: 32954279
408BRCA2NM_000059.3(BRCA2): c.9294C> A (p.Tyr3098Ter)SNVPathogenicrs80359200GRCh37Chr 13, 32968863: 32968863
409BRCA2NM_000059.3(BRCA2): c.9294C> G (p.Tyr3098Ter)SNVPathogenicrs80359200GRCh37Chr 13, 32968863: 32968863
410BRCA2NM_000059.3(BRCA2): c.9371A> T (p.Asn3124Ile)SNVLikely pathogenic, Pathogenicrs28897759GRCh37Chr 13, 32968940: 32968940
411BRCA2NM_000059.3(BRCA2): c.9380G> A (p.Trp3127Ter)SNVPathogenicrs80359211GRCh37Chr 13, 32968949: 32968949
412BRCA2NM_000059.3(BRCA2): c.9401delG (p.Gly3134Alafs)deletionPathogenicrs80359759GRCh37Chr 13, 32968970: 32968970
413BRCA2NM_000059.3(BRCA2): c.9435_9436delGT (p.Ser3147Cysfs)deletionPathogenicrs80359763GRCh37Chr 13, 32969004: 32969005
414BRCA2NM_000059.3(BRCA2): c.9580_9581delCC (p.Pro3194Asnfs)deletionPathogenicrs80359771GRCh37Chr 13, 32971113: 32971114
415BRCA2NM_000059.3(BRCA2): c.9599C> G (p.Ser3200Ter)SNVPathogenicrs80359230GRCh37Chr 13, 32971132: 32971132
416BRCA2NM_000059.3(BRCA2): c.9699_9702delTATG (p.Cys3233Trpfs)deletionPathogenicrs80359775GRCh37Chr 13, 32972349: 32972352
417BRCA2NM_000059.3(BRCA2): c.5482_5486delAAATT (p.Lys1828Valfs)deletionPathogenicrs80359516GRCh37Chr 13, 32913974: 32913978
418BRIP1NM_032043.2(BRIP1): c.2392C> T (p.Arg798Ter)SNVPathogenicrs137852986GRCh37Chr 17, 59793412: 59793412
419BRCA2NM_000059.3(BRCA2): c.100G> T (p.Glu34Ter)SNVPathogenicrs80358391GRCh37Chr 13, 32893246: 32893246
420BRCA2NM_000059.3(BRCA2): c.1097dupT (p.Leu366Phefs)duplicationPathogenicrs397507570GRCh37Chr 13, 32906712: 32906712
421BRCA2NM_000059.3(BRCA2): c.10G> T (p.Gly4Ter)SNVPathogenicrs397507571GRCh37Chr 13, 32890607: 32890607
422BRCA2NM_000059.3(BRCA2): c.1103C> A (p.Ser368Ter)SNVPathogenicrs80358407GRCh37Chr 13, 32906718: 32906718
423BRCA2NM_000059.3(BRCA2): c.1117C> T (p.Gln373Ter)SNVPathogenicrs397507572GRCh37Chr 13, 32906732: 32906732
424BRCA2NM_000059.3(BRCA2): c.1128delT (p.Phe376Leufs)deletionPathogenicrs80359263GRCh37Chr 13, 32906743: 32906743
425BRCA2NM_000059.3(BRCA2): c.1138delA (p.Ser380Valfs)deletionPathogenicrs80359264GRCh37Chr 13, 32906753: 32906753
426BRCA2NM_000059.3(BRCA2): c.1147delA (p.Ile383Serfs)deletionPathogenicrs80359265GRCh37Chr 13, 32906762: 32906762
427BRCA2NM_000059.3(BRCA2): c.1153A> T (p.Lys385Ter)SNVPathogenicrs80358411GRCh37Chr 13, 32906768: 32906768
428BRCA2NM_000059.3(BRCA2): c.115delG (p.Ala39Leufs)deletionPathogenicrs397507573GRCh37Chr 13, 32893261: 32893261
429BRCA2NM_000059.3(BRCA2): c.1189_1190insTTAG (p.Gln397Leufs)insertionPathogenicrs397515635GRCh37Chr 13, 32906804: 32906805
430BRCA2NM_000059.3(BRCA2): c.1202C> G (p.Ser401Ter)SNVPathogenicrs80358413GRCh37Chr 13, 32906817: 32906817
431BRCA2NM_000059.3(BRCA2): c.1219delC (p.Gln407Argfs)deletionPathogenicrs80359267GRCh37Chr 13, 32906834: 32906834
432BRCA2NM_000059.3(BRCA2): c.1225delG (p.Glu409Argfs)deletionPathogenicrs80359268GRCh37Chr 13, 32906840: 32906840
433BRCA2NM_000059.3(BRCA2): c.1233dupA (p.Pro412Thrfs)duplicationPathogenicrs80359270GRCh37Chr 13, 32906848: 32906848
434BRCA2NM_000059.3(BRCA2): c.1261C> T (p.Gln421Ter)SNVPathogenicrs80358419GRCh37Chr 13, 32906876: 32906876
435BRCA2NM_000059.3(BRCA2): c.1278delA (p.Asp427Thrfs)deletionPathogenicrs80359274GRCh37Chr 13, 32906893: 32906893
436BRCA2NM_000059.3(BRCA2): c.128delA (p.Asn43Ilefs)deletionPathogenicrs80359275GRCh37Chr 13, 32893274: 32893274
437BRCA2NM_000059.3(BRCA2): c.1300_1303delAAAA (p.Lys434Glufs)deletionPathogenicrs397507577GRCh37Chr 13, 32906915: 32906918
438BRCA2NM_000059.3(BRCA2): c.1307delA (p.Lys436Argfs)deletionPathogenicrs80359278GRCh37Chr 13, 32906922: 32906922
439BRCA2NM_000059.3(BRCA2): c.1327G> T (p.Glu443Ter)SNVPathogenicrs397507579GRCh37Chr 13, 32906942: 32906942
440BRCA2NM_000059.3(BRCA2): c.1362delA (p.Lys454Asnfs)deletionPathogenicrs397507582GRCh37Chr 13, 32906977: 32906977
441BRCA2NM_000059.3(BRCA2): c.1368_1369delGA (p.Lys457Alafs)deletionPathogenicrs397507583GRCh37Chr 13, 32906983: 32906984
442BRCA2NM_000059.3(BRCA2): c.1389_1390delAG (p.Val464Glyfs)deletionPathogenicrs80359283GRCh37Chr 13, 32907004: 32907005
443BRCA2NM_000059.3(BRCA2): c.1399A> T (p.Lys467Ter)SNVPathogenicrs80358427GRCh37Chr 13, 32907014: 32907014
444BRCA2NM_000059.3(BRCA2): c.1405_1406delGA (p.Asp469Terfs)deletionPathogenicrs397507586GRCh37Chr 13, 32907020: 32907021
445BRCA2NM_000059.3(BRCA2): c.1411G> T (p.Glu471Ter)SNVPathogenicrs80358428GRCh37Chr 13, 32907026: 32907026
446BRCA2NM_000059.3(BRCA2): c.1414C> T (p.Gln472Ter)SNVPathogenicrs80358429GRCh37Chr 13, 32907029: 32907029
447BRCA2NM_000059.3(BRCA2): c.1456C> T (p.Gln486Ter)SNVPathogenicrs80358434GRCh37Chr 13, 32907071: 32907071
448BRCA2NM_000059.3(BRCA2): c.145G> T (p.Glu49Ter)SNVPathogenicrs80358435GRCh37Chr 13, 32893291: 32893291
449BRCA2NM_000059.3(BRCA2): c.1496_1497delAG (p.Gln499Argfs)deletionPathogenicrs80359285GRCh37Chr 13, 32907111: 32907112
450BRCA2NM_000059.3(BRCA2): c.1499delG (p.Gly500Valfs)deletionPathogenicrs397507591GRCh37Chr 13, 32907114: 32907114
451BRCA2NM_000059.3(BRCA2): c.1511_1512delCT (p.Ser504Tyrfs)deletionPathogenicrs80359286GRCh37Chr 13, 32907126: 32907127
452BRCA2NM_000059.3(BRCA2): c.1514delT (p.Ile505Asnfs)deletionPathogenicrs397507592GRCh37Chr 13, 32907129: 32907129
453BRCA2NM_000059.3(BRCA2): c.151delG (p.Glu51Asnfs)deletionPathogenicrs80359287GRCh37Chr 13, 32893297: 32893297
454BRCA2NM_000059.3(BRCA2): c.1528G> T (p.Glu510Ter)SNVPathogenicrs80358438GRCh37Chr 13, 32907143: 32907143
455BRCA2NM_000059.3(BRCA2): c.1540dupG (p.Glu514Glyfs)duplicationPathogenicrs397507593GRCh37Chr 13, 32907155: 32907155
456BRCA2NM_000059.3(BRCA2): c.1547delT (p.Phe516Serfs)deletionPathogenicrs80359289GRCh37Chr 13, 32907162: 32907162
457BRCA2NM_000059.3(BRCA2): c.1572delG (p.Met524Ilefs)deletionPathogenicrs397507594GRCh37Chr 13, 32907187: 32907187
458BRCA2NM_000059.3(BRCA2): c.1594G> T (p.Glu532Ter)SNVPathogenicrs138734772GRCh37Chr 13, 32907209: 32907209
459BRCA2NM_000059.3(BRCA2): c.1595_1599delAAACT (p.Glu532Glyfs)deletionPathogenicrs80359291GRCh37Chr 13, 32907210: 32907214
460BRCA2NM_000059.3(BRCA2): c.1597delA (p.Thr533Leufs)deletionPathogenicrs80359292GRCh37Chr 13, 32907212: 32907212
461BRCA2NM_000059.3(BRCA2): c.1599_1600delTG (p.Glu534Serfs)deletionPathogenicrs80359293GRCh37Chr 13, 32907214: 32907215
462BRCA2NM_000059.3(BRCA2): c.1617delA (p.Leu540Trpfs)deletionPathogenicrs80359294GRCh37Chr 13, 32907232: 32907232
463BRCA2NM_000059.3(BRCA2): c.1631_1632delCT (p.Thr544Serfs)deletionPathogenicrs80359295GRCh37Chr 13, 32907246: 32907247
464BRCA2NM_000059.3(BRCA2): c.1636delT (p.Cys546Alafs)deletionPathogenicrs397507598GRCh37Chr 13, 32907251: 32907251
465BRCA2NM_000059.3(BRCA2): c.1654delT (p.Ser552Profs)deletionPathogenicrs80359297GRCh37Chr 13, 32907269: 32907269
466BRCA2NM_000059.3(BRCA2): c.1670T> G (p.Leu557Ter)SNVPathogenicrs80358452GRCh37Chr 13, 32907285: 32907285
467BRCA2NM_000059.3(BRCA2): c.1670_1683delTAATTGATAATGGA (p.Leu557Terfs)deletionPathogenicrs397507600GRCh37Chr 13, 32907285: 32907298
468BRCA2NM_000059.3(BRCA2): c.1672delA (p.Ile558Leufs)deletionPathogenicrs397507601GRCh37Chr 13, 32907287: 32907287
469BRCA2NM_000059.3(BRCA2): c.1681G> T (p.Gly561Ter)SNVPathogenicrs80358455GRCh37Chr 13, 32907296: 32907296
470BRCA2NM_000059.3(BRCA2): c.1689G> A (p.Trp563Ter)SNVPathogenicrs80358456GRCh37Chr 13, 32907304: 32907304
471BRCA2NM_000059.3(BRCA2): c.1705delC (p.Gln569Argfs)deletionPathogenicrs80359300GRCh37Chr 13, 32907320: 32907320
472BRCA2NM_000059.3(BRCA2): c.170dupA (p.Tyr57Terfs)duplicationPathogenicrs80359299GRCh37Chr 13, 32893316: 32893316
473BRCA2NM_000059.3(BRCA2): c.171C> G (p.Tyr57Ter)SNVPathogenicrs201523522GRCh37Chr 13, 32893317: 32893317
474BRCA2NM_000059.3(BRCA2): c.1748T> A (p.Leu583Ter)SNVPathogenicrs397507604GRCh37Chr 13, 32907363: 32907363
475BRCA2NM_000059.3(BRCA2): c.1748delT (p.Leu583Terfs)deletionPathogenicrs397507605GRCh37Chr 13, 32907363: 32907363
476BRCA2NM_000059.3(BRCA2): c.1754delA (p.Lys585Argfs)deletionPathogenicrs80359301GRCh37Chr 13, 32907369: 32907369
477BRCA2NM_000059.3(BRCA2): c.1763A> G (p.Asn588Ser)SNVPathogenicrs373400041GRCh37Chr 13, 32907378: 32907378
478BRCA2NM_000059.3(BRCA2): c.1763_1766delATAA (p.Asn588Serfs)deletionPathogenicrs80359303GRCh37Chr 13, 32907378: 32907381
479BRCA2NM_000059.3(BRCA2): c.1765_1766delAA (p.Lys589Valfs)deletionPathogenicrs397507606GRCh37Chr 13, 32907380: 32907381
480BRCA2NM_000059.3(BRCA2): c.1773_1776delTTAT (p.Ile591Metfs)deletionPathogenicrs80359304GRCh37Chr 13, 32907388: 32907391
481BRCA2NM_000059.3(BRCA2): c.1789G> T (p.Glu597Ter)SNVPathogenicrs80358461GRCh37Chr 13, 32907404: 32907404
482BRCA2NM_000059.3(BRCA2): c.1797_1801delTTATA (p.Tyr600Argfs)deletionPathogenicrs397507607GRCh37Chr 13, 32907412: 32907416
483BRCA2NM_000059.3(BRCA2): c.17_18delAA (p.Lys6Argfs)deletionPathogenicrs80359298GRCh37Chr 13, 32890614: 32890615
484BRCA2NM_000059.3(BRCA2): c.1800T> G (p.Tyr600Ter)SNVPathogenicrs80358464GRCh37Chr 13, 32907415: 32907415
485BRCA2NM_000059.3(BRCA2): c.1805delG (p.Gly602Glufs)deletionPathogenicrs397507608GRCh37Chr 13, 32907420: 32907420
486BRCA2NM_000059.3(BRCA2): c.1815dupA (p.Pro606Thrfs)duplicationPathogenicrs80359310GRCh37Chr 13, 32907430: 32907430
487BRCA2NM_000059.3(BRCA2): c.1825C> T (p.Gln609Ter)SNVPathogenicrs80358472GRCh37Chr 13, 32907440: 32907440
488BRCA2NM_000059.3(BRCA2): c.1831delT (p.Ser611Glnfs)deletionPathogenicrs80359311GRCh37Chr 13, 32907446: 32907446
489BRCA2NM_000059.3(BRCA2): c.1842dupT (p.Asn615Terfs)duplicationPathogenicrs80359312GRCh37Chr 13, 32907457: 32907457
490BRCA2NM_000059.3(BRCA2): c.1854delCinsAA (p.Gln619Thrfs)indelPathogenicrs276174815GRCh37Chr 13, 32907469: 32907469
491BRCA2NM_000059.3(BRCA2): c.1855C> T (p.Gln619Ter)SNVPathogenicrs80358476GRCh37Chr 13, 32907470: 32907470
492BRCA2NM_000059.3(BRCA2): c.1888dupA (p.Thr630Asnfs)duplicationPathogenicrs80359314GRCh37Chr 13, 32907503: 32907503
493BRCA2NM_000059.3(BRCA2): c.1889delC (p.Thr630Asnfs)deletionPathogenicrs80359315GRCh37Chr 13, 32907504: 32907504
494BRCA2NM_000059.3(BRCA2): c.1899_1900insTT (p.Ala634Leufs)insertionPathogenicrs397507613GRCh37Chr 13, 32907514: 32907515
495BRCA2NM_000059.3(BRCA2): c.1933delA (p.Arg645Glufs)deletionPathogenicrs397507616GRCh37Chr 13, 32910425: 32910425
496BRCA2NM_000059.3(BRCA2): c.196C> T (p.Gln66Ter)SNVPathogenicrs397507617GRCh37Chr 13, 32893342: 32893342
497BRCA2NM_000059.3(BRCA2): c.2026delT (p.Cys676Valfs)deletionPathogenicrs80359317GRCh37Chr 13, 32910518: 32910518
498BRCA2NM_000059.3(BRCA2): c.2049_2050delTC (p.Gln684Glyfs)deletionPathogenicrs80359319GRCh37Chr 13, 32910541: 32910542
499BRCA2NM_000059.3(BRCA2): c.204delA (p.Lys68Asnfs)deletionPathogenicrs80359320GRCh37Chr 13, 32893350: 32893350
500BRCA2NM_000059.3(BRCA2): c.2064T> G (p.Tyr688Ter)SNVPathogenicrs80358485GRCh37Chr 13, 32910556: 32910556
501BRCA2NM_000059.3(BRCA2): c.2094delA (p.Gln699Serfs)deletionPathogenicrs80359323GRCh37Chr 13, 32910586: 32910586
502BRCA2NM_000059.3(BRCA2): c.2103_2106delTATT (p.Phe701Leufs)deletionPathogenicrs80359324GRCh37Chr 13, 32910595: 32910598
503BRCA2NM_000059.3(BRCA2): c.2150delG (p.Cys717Leufs)deletionPathogenicrs397507618GRCh37Chr 13, 32910642: 32910642
504BRCA2NM_000059.3(BRCA2): c.215delAinsTT (p.Asn72Ilefs)indelPathogenicrs397507619GRCh37Chr 13, 32893361: 32893361
505BRCA2NM_000059.3(BRCA2): c.2224C> T (p.Gln742Ter)SNVPathogenicrs80358494GRCh37Chr 13, 32910716: 32910716
506BRCA2NM_000059.3(BRCA2): c.2254_2257delGACT (p.Asp752Phefs)deletionPathogenicrs80359326GRCh37Chr 13, 32910746: 32910749
507BRCA2NM_000059.3(BRCA2): c.2259delT (p.Gln754Asnfs)deletionPathogenicrs397507621GRCh37Chr 13, 32910751: 32910751
508BRCA2NM_000059.3(BRCA2): c.227C> G (p.Ser76Ter)SNVPathogenicrs80358498GRCh37Chr 13, 32893373: 32893373
509BRCA2NM_000059.3(BRCA2): c.2287delC (p.His763Metfs)deletionPathogenicrs80359327GRCh37Chr 13, 32910779: 32910779
510BRCA2NM_000059.3(BRCA2): c.22_23delAG (p.Arg8Alafs)deletionPathogenicrs397507623GRCh37Chr 13, 32890619: 32890620
511BRCA2NM_000059.3(BRCA2): c.2376C> A (p.Tyr792Ter)SNVPathogenicrs80358503GRCh37Chr 13, 32910868: 32910868
512BRCA2NM_000059.3(BRCA2): c.2402_2412delACAATTATGAA (p.Asn801Ilefs)deletionPathogenicrs397507625GRCh37Chr 13, 32910894: 32910904
513BRCA2NM_000059.3(BRCA2): c.2435delA (p.Asn812Ilefs)deletionPathogenicrs80359329GRCh37Chr 13, 32910927: 32910927
514BRCA2NM_000059.3(BRCA2): c.2442delC (p.Met815Trpfs)deletionPathogenicrs397507627GRCh37Chr 13, 32910934: 32910934
515BRCA2NM_000059.3(BRCA2): c.2446delG (p.Glu816Lysfs)deletionPathogenicrs80359330GRCh37Chr 13, 32910938: 32910938
516BRCA2NM_000059.3(BRCA2): c.244A> T (p.Lys82Ter)SNVPathogenicrs397507628GRCh37Chr 13, 32893390: 32893390
517BRCA2NM_000059.3(BRCA2): c.2450delA (p.Lys817Argfs)deletionPathogenicrs80359331GRCh37Chr 13, 32910942: 32910942
518BRCA2NM_000059.3(BRCA2): c.2455C> T (p.Gln819Ter)SNVPathogenicrs397507629GRCh37Chr 13, 32910947: 32910947
519BRCA2NM_000059.3(BRCA2): c.2471T> G (p.Leu824Ter)SNVPathogenicrs397507631GRCh37Chr 13, 32910963: 32910963
520BRCA2NM_000059.3(BRCA2): c.2471_2476delTAAATG (p.Leu824_Arg1160delinsTer)deletionPathogenicrs276174823GRCh37Chr 13, 32910963: 32910968
521BRCA2NM_000059.3(BRCA2): c.250C> T (p.Gln84Ter)SNVPathogenicrs80358515GRCh37Chr 13, 32893396: 32893396
522BRCA2NM_000059.3(BRCA2): c.2517C> A (p.Tyr839Ter)SNVPathogenicrs80358516GRCh37Chr 13, 32911009: 32911009
523BRCA2NM_000059.3(BRCA2): c.2537C> G (p.Ser846Ter)SNVPathogenicrs80358518GRCh37Chr 13, 32911029: 32911029
524BRCA2NM_000059.3(BRCA2): c.2545delG (p.Val849Tyrfs)deletionPathogenicrs80359333GRCh37Chr 13, 32911037: 32911037
525BRCA2NM_000059.3(BRCA2): c.2564_2565delCA (p.Thr855Lysfs)deletionPathogenicrs80359334GRCh37Chr 13, 32911056: 32911057
526BRCA2NM_000059.3(BRCA2): c.2586_2592delAAATCAA (p.Asn863Lysfs)deletionPathogenicrs80359336GRCh37Chr 13, 32911078: 32911084
527BRCA2NM_000059.3(BRCA2): c.2589delT (p.Gln864Lysfs)deletionPathogenicrs397507632GRCh37Chr 13, 32911081: 32911081
528BRCA2NM_000059.3(BRCA2): c.2603delC (p.Thr868Ilefs)deletionPathogenicrs276174824GRCh37Chr 13, 32911095: 32911095
529BRCA2NM_000059.3(BRCA2): c.2612C> A (p.Ser871Ter)SNVPathogenicrs397507634GRCh37Chr 13, 32911104: 32911104
530BRCA2NM_000059.3(BRCA2): c.262_263delCT (p.Leu88Alafs)deletionPathogenicrs276174825GRCh37Chr 13, 32893408: 32893409
531BRCA2NM_000059.3(BRCA2): c.2636_2637delCT (p.Ser879Terfs)deletionPathogenicrs276174826GRCh37Chr 13, 32911128: 32911129
532BRCA2NM_000059.3(BRCA2): c.263delT (p.Leu88Argfs)deletionPathogenicrs80359339GRCh37Chr 13, 32893409: 32893409
533BRCA2NM_000059.3(BRCA2): c.2653_2656delGACA (p.Asp885Metfs)deletionPathogenicrs80359340GRCh37Chr 13, 32911145: 32911148
534BRCA2NM_000059.3(BRCA2): c.266delC (p.Pro89Argfs)deletionPathogenicrs80359341GRCh37Chr 13, 32893412: 32893412
535BRCA2NM_000059.3(BRCA2): c.2684delC (p.Ala895Valfs)deletionPathogenicrs80359342GRCh37Chr 13, 32911176: 32911176
536BRCA2NM_000059.3(BRCA2): c.26delC (p.Pro9Glnfs)deletionPathogenicrs80359343GRCh37Chr 13, 32890623: 32890623
537BRCA2NM_000059.3(BRCA2): c.2701delC (p.Ala902Leufs)deletionPathogenicrs397507637GRCh37Chr 13, 32911193: 32911193
538BRCA2NM_000059.3(BRCA2): c.2731delG (p.Glu911Lysfs)deletionPathogenicrs80359344GRCh37Chr 13, 32911223: 32911223
539BRCA2NM_000059.3(BRCA2): c.273C> A (p.Tyr91Ter)SNVPathogenicrs145988146GRCh37Chr 13, 32893419: 32893419
540BRCA2NM_000059.3(BRCA2): c.273C> G (p.Tyr91Ter)SNVPathogenicrs145988146GRCh37Chr 13, 32893419: 32893419
541BRCA2NM_000059.3(BRCA2): c.2748T> A (p.Cys916Ter)SNVPathogenicrs397507638GRCh37Chr 13, 32911240: 32911240
542BRCA2NM_000059.3(BRCA2): c.2760delC (p.Ile921Phefs)deletionPathogenicrs80359346GRCh37Chr 13, 32911252: 32911252
543BRCA2NM_000059.3(BRCA2): c.2765dupT (p.Lys923Glnfs)duplicationPathogenicrs397507639GRCh37Chr 13, 32911257: 32911257
544BRCA2NM_000059.3(BRCA2): c.276dupA (p.Ser93Ilefs)duplicationPathogenicrs80359345GRCh37Chr 13, 32893422: 32893422
545BRCA2NM_000059.3(BRCA2): c.2786delT (p.Leu929Tyrfs)deletionPathogenicrs397507642GRCh37Chr 13, 32911278: 32911278
546BRCA2NM_000059.3(BRCA2): c.2786dupT (p.Leu929Phefs)duplicationPathogenicrs80359347GRCh37Chr 13, 32911278: 32911278
547BRCA2NM_000059.3(BRCA2): c.2798_2799delCA (p.Thr933Argfs)deletionPathogenicrs80359348GRCh37Chr 13, 32911290: 32911291
548BRCA2NM_000059.3(BRCA2): c.2798delC (p.Thr933Lysfs)deletionPathogenicrs80359349GRCh37Chr 13, 32911290: 32911290
549BRCA2NM_000059.3(BRCA2): c.2805_2808delTAAA (p.Ala938Profs)deletionPathogenicrs80359350GRCh37Chr 13, 32911297: 32911300
550BRCA2NM_000059.3(BRCA2): c.2810_2811delAA (p.Gln937Argfs)deletionPathogenicrs80359353GRCh37Chr 13, 32911302: 32911303
551BRCA2NM_000059.3(BRCA2): c.2812_2815delGCAA (p.Ala938Profs)deletionPathogenicrs80359354GRCh37Chr 13, 32911304: 32911307
552BRCA2NM_000059.3(BRCA2): c.2830A> T (p.Lys944Ter)SNVPathogenicrs80358533GRCh37Chr 13, 32911322: 32911322
553BRCA2NM_000059.3(BRCA2): c.2836_2837delGA (p.Asp946Phefs)deletionPathogenicrs80359357GRCh37Chr 13, 32911328: 32911329
554BRCA2NM_000059.3(BRCA2): c.2836delG (p.Asp946Ilefs)deletionPathogenicrs80359358GRCh37Chr 13, 32911328: 32911328
555BRCA2NM_000059.3(BRCA2): c.2845delT (p.Tyr949Metfs)deletionPathogenicrs397507644GRCh37Chr 13, 32911337: 32911337
556BRCA2NM_000059.3(BRCA2): c.2870delA (p.Asn957Ilefs)deletionPathogenicrs397507645GRCh37Chr 13, 32911362: 32911362
557BRCA2NM_000059.3(BRCA2): c.2881C> T (p.Gln961Ter)SNVPathogenicrs80358538GRCh37Chr 13, 32911373: 32911373
558BRCA2NM_000059.3(BRCA2): c.289G> T (p.Glu97Ter)SNVPathogenicrs397507646GRCh37Chr 13, 32893435: 32893435
559BRCA2NM_000059.3(BRCA2): c.2912T> G (p.Leu971Ter)SNVPathogenicrs397507647GRCh37Chr 13, 32911404: 32911404
560BRCA2NM_000059.3(BRCA2): c.2957dupA (p.Asn986Lysfs)duplicationPathogenicrs80359365GRCh37Chr 13, 32911449: 32911449
561BRCA2NM_000059.3(BRCA2): c.298A> T (p.Lys100Ter)SNVPathogenicrs80358546GRCh37Chr 13, 32893444: 32893444
562BRCA2NM_000059.3(BRCA2): c.2T> G (p.Met1Arg)SNVPathogenicrs80358547GRCh37Chr 13, 32890599: 32890599
563BRCA2NM_000059.3(BRCA2): c.3018delA (p.Gly1007Valfs)deletionPathogenicrs397507651GRCh37Chr 13, 32911510: 32911510
564BRCA2NM_000059.3(BRCA2): c.3043A> T (p.Lys1015Ter)SNVPathogenicrs397507652GRCh37Chr 13, 32911535: 32911535
565BRCA2NM_000059.3(BRCA2): c.3051delC (p.Lys1018Serfs)deletionPathogenicrs80359367GRCh37Chr 13, 32911543: 32911543
566BRCA2NM_000059.3(BRCA2): c.3068dupA (p.Asn1023Lysfs)duplicationPathogenicrs80359368GRCh37Chr 13, 32911560: 32911560
567BRCA2NM_000059.3(BRCA2): c.306dupA (p.Leu103Ilefs)duplicationPathogenicrs397507654GRCh37Chr 13, 32893452: 32893452
568BRCA2NM_000059.3(BRCA2): c.3076A> T (p.Lys1026Ter)SNVPathogenicrs80358552GRCh37Chr 13, 32911568: 32911568
569BRCA2NM_000059.3(BRCA2): c.3103G> T (p.Glu1035Ter)SNVPathogenicrs80358556GRCh37Chr 13, 32911595: 32911595
570BRCA2NM_000059.3(BRCA2): c.3146delA (p.Asn1049Ilefs)deletionPathogenicrs80359370GRCh37Chr 13, 32911638: 32911638
571BRCA2NM_000059.3(BRCA2): c.314T> G (p.Leu105Ter)SNVPathogenicrs80358561GRCh37Chr 13, 32893460: 32893460
572BRCA2NM_000059.3(BRCA2): c.316+2T> CSNVPathogenicrs81002805GRCh37Chr 13, 32893464: 32893464
573BRCA2NM_000059.3(BRCA2): c.316+5G> ASNVLikely pathogenic, Pathogenicrs81002840GRCh37Chr 13, 32893467: 32893467
574BRCA2NM_000059.3(BRCA2): c.3166C> T (p.Gln1056Ter)SNVPathogenicrs79728106GRCh37Chr 13, 32911658: 32911658
575BRCA2NM_000059.3(BRCA2): c.3167_3170delAAAA (p.Gln1056Argfs)deletionPathogenicrs80359372GRCh37Chr 13, 32911659: 32911662
576BRCA2NM_000059.3(BRCA2): c.3189_3192delGTCA (p.Ser1064Leufs)deletionPathogenicrs80359374GRCh37Chr 13, 32911681: 32911684
577BRCA2NM_000059.3(BRCA2): c.3195_3198delTAAT (p.Asn1066Leufs)deletionPathogenicrs80359375GRCh37Chr 13, 32911687: 32911690
578BRCA2NM_000059.3(BRCA2): c.3195delT (p.Asn1066Ilefs)deletionPathogenicrs397507657GRCh37Chr 13, 32911687: 32911687
579BRCA2NM_000059.3(BRCA2): c.3199delA (p.Thr1067Leufs)deletionPathogenicrs80359377GRCh37Chr 13, 32911691: 32911691
580BRCA2NM_000059.3(BRCA2): c.3202delG (p.Val1068Tyrfs)deletionPathogenicrs397507658GRCh37Chr 13, 32911694: 32911694
581BRCA2NM_000059.3(BRCA2): c.3226_3230delGTAGT (p.Val1076Cysfs)deletionPathogenicrs397507659GRCh37Chr 13, 32911718: 32911722
582BRCA2NM_000059.3(BRCA2): c.3228_3229delAG (p.Val1077Cysfs)deletionPathogenicrs80359378GRCh37Chr 13, 32911720: 32911721
583BRCA2NM_000059.3(BRCA2): c.3262_3263delCC (p.Pro1088Serfs)deletionPathogenicrs80359379GRCh37Chr 13, 32911754: 32911755
584BRCA2NM_000059.3(BRCA2): c.3265C> T (p.Gln1089Ter)SNVPathogenicrs80358573GRCh37Chr 13, 32911757: 32911757
585BRCA2NM_000059.3(BRCA2): c.3267_3268delGA (p.Gln1089Hisfs)deletionPathogenicrs397507661GRCh37Chr 13, 32911759: 32911760
586BRCA2NM_000059.3(BRCA2): c.3269delT (p.Met1090Serfs)deletionPathogenicrs80359381GRCh37Chr 13, 32911761: 32911761
587BRCA2NM_000059.3(BRCA2): c.3273_3276delATTT (p.Leu1091Phefs)deletionPathogenicrs80359382GRCh37Chr 13, 32911765: 32911768
588BRCA2NM_000059.3(BRCA2): c.3277delT (p.Ser1093Profs)deletionPathogenicrs276174833GRCh37Chr 13, 32911769: 32911769
589BRCA2NM_000059.3(BRCA2): c.3283C> T (p.Gln1095Ter)SNVPathogenicrs397507662GRCh37Chr 13, 32911775: 32911775
590BRCA2NM_000059.3(BRCA2): c.3319C> T (p.Gln1107Ter)SNVPathogenicrs80358578GRCh37Chr 13, 32911811: 32911811
591BRCA2NM_000059.3(BRCA2): c.3352_3356delTTAGA (p.Leu1118Argfs)deletionPathogenicrs397507664GRCh37Chr 13, 32911844: 32911848
592BRCA2NM_000059.3(BRCA2): c.3354delA (p.Glu1119Lysfs)deletionPathogenicrs80359384GRCh37Chr 13, 32911846: 32911846
593BRCA2NM_000059.3(BRCA2): c.3362C> G (p.Ser1121Ter)SNVPathogenicrs80358579GRCh37Chr 13, 32911854: 32911854
594BRCA2NM_000059.3(BRCA2): c.3381delT (p.Phe1127Leufs)deletionPathogenicrs397507666GRCh37Chr 13, 32911873: 32911873
595BRCA2NM_000059.3(BRCA2): c.3442C> T (p.Gln1148Ter)SNVPathogenicrs397507667GRCh37Chr 13, 32911934: 32911934
596BRCA2NM_000059.3(BRCA2): c.3452dupT (p.Thr1154Aspfs)duplicationPathogenicrs397507669GRCh37Chr 13, 32911944: 32911944
597BRCA2NM_000059.3(BRCA2): c.3453delC (p.Leu1152Terfs)deletionPathogenicrs397507670GRCh37Chr 13, 32911945: 32911945
598BRCA2NM_000059.3(BRCA2): c.3455T> G (p.Leu1152Ter)SNVPathogenicrs80358593GRCh37Chr 13, 32911947: 32911947
599BRCA2NM_000059.3(BRCA2): c.3465_3466delTT (p.Ser1156Terfs)deletionPathogenicrs397507671GRCh37Chr 13, 32911957: 32911958
600BRCA2NM_000059.3(BRCA2): c.3469G> T (p.Glu1157Ter)SNVPathogenicrs80358595GRCh37Chr 13, 32911961: 32911961
601BRCA2NM_000059.3(BRCA2): c.3487delG (p.Asp1163Ilefs)deletionPathogenicrs397507672GRCh37Chr 13, 32911979: 32911979
602BRCA2NM_000059.3(BRCA2): c.3500_3501delTA (p.Ile1167Asnfs)deletionPathogenicrs80359387GRCh37Chr 13, 32911992: 32911993
603BRCA2NM_000059.3(BRCA2): c.3554_3555delCA (p.Thr1185Serfs)deletionPathogenicrs80359389GRCh37Chr 13, 32912046: 32912047
604BRCA2NM_000059.3(BRCA2): c.3570delG (p.Lys1191Serfs)deletionPathogenicrs80359390GRCh37Chr 13, 32912062: 32912062
605BRCA2NM_000059.3(BRCA2): c.3593delA (p.Asn1198Metfs)deletionPathogenicrs397507677GRCh37Chr 13, 32912085: 32912085
606BRCA2NM_000059.3(BRCA2): c.3599_3600delGT (p.Cys1200Terfs)deletionPathogenicrs80359391GRCh37Chr 13, 32912091: 32912092
607BRCA2NM_000059.3(BRCA2): c.3641dupT (p.Phe1216Valfs)duplicationPathogenicrs397507678GRCh37Chr 13, 32912133: 32912133
608BRCA2NM_000059.3(BRCA2): c.3645_3646delGTinsTAAAAAG (p.Phe1216Lysfs)indelPathogenicrs397507679GRCh37Chr 13, 32912137: 32912138
609BRCA2NM_000059.3(BRCA2): c.3680_3681delTG (p.Leu1227Glnfs)deletionPathogenicrs80359395GRCh37Chr 13, 32912172: 32912173
610BRCA2NM_000059.3(BRCA2): c.3682_3685delAATG (p.Asn1228Phefs)deletionPathogenicrs80359396GRCh37Chr 13, 32912174: 32912177
611BRCA2NM_000059.3(BRCA2): c.3685delG (p.Val1229Phefs)deletionPathogenicrs80359397GRCh37Chr 13, 32912177: 32912177
612BRCA2NM_000059.3(BRCA2): c.36delT (p.Phe12Leufs)deletionPathogenicrs80359399GRCh37Chr 13, 32890633: 32890633
613BRCA2NM_000059.3(BRCA2): c.36dupT (p.Glu13Terfs)duplicationPathogenicrs80359393GRCh37Chr 13, 32890633: 32890633
614BRCA2NM_000059.3(BRCA2): c.370delA (p.Met124Trpfs)deletionPathogenicrs397507681GRCh37Chr 13, 32899266: 32899266
615BRCA2NM_000059.3(BRCA2): c.3723_3725delTAGinsAT (p.Phe1241Leufs)indelPathogenicrs397507682GRCh37Chr 13, 32912215: 32912217
616BRCA2NM_000059.3(BRCA2): c.3737delA (p.Asn1246Ilefs)deletionPathogenicrs80359402GRCh37Chr 13, 32912229: 32912229
617BRCA2NM_000059.3(BRCA2): c.3748G> T (p.Glu1250Ter)SNVPathogenicrs80358615GRCh37Chr 13, 32912240: 32912240
618BRCA2NM_000059.3(BRCA2): c.3751dupA (p.Thr1251Asnfs)duplicationPathogenicrs397507683GRCh37Chr 13, 32912243: 32912243
619BRCA2NM_000059.3(BRCA2): c.3772delA (p.Ile1258Terfs)deletionPathogenicrs397507684GRCh37Chr 13, 32912264: 32912264
620BRCA2NM_000059.3(BRCA2): c.3778_3779delTT (p.Leu1260Ilefs)deletionPathogenicrs397507686GRCh37Chr 13, 32912270: 32912271
621BRCA2NM_000059.3(BRCA2): c.3785C> G (p.Ser1262Ter)SNVPathogenicrs80358620GRCh37Chr 13, 32912277: 32912277
622BRCA2NM_000059.3(BRCA2): c.37G> T (p.Glu13Ter)SNVPathogenicrs80358622GRCh37Chr 13, 32890634: 32890634
623BRCA2NM_000059.3(BRCA2): c.37_44delGAAATTTT (p.Glu13Terfs)deletionPathogenicrs397507687GRCh37Chr 13, 32890634: 32890641
624BRCA2NM_000059.3(BRCA2): c.3812C> A (p.Ser1271Ter)SNVPathogenicrs80358623GRCh37Chr 13, 32912304: 32912304
625BRCA2NM_000059.3(BRCA2): c.3824_3827delTAGA (p.Ile1275Lysfs)deletionPathogenicrs397507688GRCh37Chr 13, 32912316: 32912319
626BRCA2NM_000059.3(BRCA2): c.3837delT (p.Asn1279Lysfs)deletionPathogenicrs80359404GRCh37Chr 13, 32912329: 32912329
627BRCA2NM_000059.3(BRCA2): c.3847delG (p.Val1283Terfs)deletionPathogenicrs397507691GRCh37Chr 13, 32912339: 32912339
628BRCA2NM_000059.3(BRCA2): c.3849_3852delAAGT (p.Ser1284Lysfs)deletionPathogenicrs397507692GRCh37Chr 13, 32912341: 32912344
629BRCA2NM_000059.3(BRCA2): c.3859_3860delAA (p.Asn1287Terfs)deletionPathogenicrs80359408GRCh37Chr 13, 32912351: 32912352
630BRCA2NM_000059.3(BRCA2): c.3860_3863delATAA (p.Asn1287Ilefs)deletionPathogenicrs80359410GRCh37Chr 13, 32912352: 32912355
631BRCA2NM_000059.3(BRCA2): c.3860delA (p.Asn1287Ilefs)deletionPathogenicrs80359406GRCh37Chr 13, 32912352: 32912352
632BRCA2NM_000059.3(BRCA2): c.3860dupA (p.Asn1287Lysfs)duplicationPathogenicrs80359409GRCh37Chr 13, 32912352: 32912352
633BRCA2NM_000059.3(BRCA2): c.3866_3867delAA (p.Lys1289Metfs)deletionPathogenicrs397507694GRCh37Chr 13, 32912358: 32912359
634BRCA2NM_000059.3(BRCA2): c.3871C> T (p.Gln1291Ter)SNVPathogenicrs80358631GRCh37Chr 13, 32912363: 32912363
635BRCA2NM_000059.3(BRCA2): c.3881T> A (p.Leu1294Ter)SNVPathogenicrs80358632GRCh37Chr 13, 32912373: 32912373
636BRCA2NM_000059.3(BRCA2): c.3887delA (p.Asn1296Ilefs)deletionPathogenicrs397507695GRCh37Chr 13, 32912379: 32912379
637BRCA2NM_000059.3(BRCA2): c.3911delC (p.Thr1304Ilefs)deletionPathogenicrs80359415GRCh37Chr 13, 32912403: 32912403
638BRCA2NM_000059.3(BRCA2): c.3915delT (p.Phe1305Leufs)deletionPathogenicrs397507698GRCh37Chr 13, 32912407: 32912407
639BRCA2NM_000059.3(BRCA2): c.3919delG (p.Glu1307Lysfs)deletionPathogenicrs80359416GRCh37Chr 13, 32912411: 32912411
640BRCA2NM_000059.3(BRCA2): c.3936_3954del19 (p.Asn1312Lysfs)deletionPathogenicrs397507700GRCh37Chr 13, 32912428: 32912446
641BRCA2NM_000059.3(BRCA2): c.3939C> A (p.Tyr1313Ter)SNVPathogenicrs80358641GRCh37Chr 13, 32912431: 32912431
642BRCA2NM_000059.3(BRCA2): c.3939delC (p.Tyr1313Terfs)deletionPathogenicrs276174838GRCh37Chr 13, 32912431: 32912431
643BRCA2NM_000059.3(BRCA2): c.3958G> T (p.Glu1320Ter)SNVPathogenicrs80358644GRCh37Chr 13, 32912450: 32912450
644BRCA2NM_000059.3(BRCA2): c.3967A> T (p.Lys1323Ter)SNVPathogenicrs80358648GRCh37Chr 13, 32912459: 32912459
645BRCA2NM_000059.3(BRCA2): c.3975_3978dupTGCT (p.Ala1327Cysfs)duplicationPathogenicrs397515636GRCh37Chr 13, 32912467: 32912470
646BRCA2NM_000059.3(BRCA2): c.3G> A (p.Met1Ile)SNVPathogenicrs80358650GRCh37Chr 13, 32890600: 32890600
647BRCA2NM_000059.3(BRCA2): c.4001T> A (p.Leu1334Ter)SNVPathogenicrs80358652GRCh37Chr 13, 32912493: 32912493
648BRCA2NM_000059.3(BRCA2): c.4005dupA (p.Phe1336Ilefs)duplicationPathogenicrs397507701GRCh37Chr 13, 32912497: 32912497
649BRCA2NM_000059.3(BRCA2): c.4021delT (p.Ser1341Glnfs)deletionPathogenicrs397507702GRCh37Chr 13, 32912513: 32912513
650BRCA2NM_000059.3(BRCA2): c.4037_4038delCT (p.Thr1346Serfs)deletionPathogenicrs80359421GRCh37Chr 13, 32912529: 32912530
651BRCA2NM_000059.3(BRCA2): c.4048_4051delCATA (p.His1350Lysfs)deletionPathogenicrs80359423GRCh37Chr 13, 32912540: 32912543
652BRCA2NM_000059.3(BRCA2): c.4076delC (p.Thr1359Metfs)deletionPathogenicrs80359424GRCh37Chr 13, 32912568: 32912568
653BRCA2NM_000059.3(BRCA2): c.4095T> A (p.Cys1365Ter)SNVPathogenicrs80358658GRCh37Chr 13, 32912587: 32912587
654BRCA2NM_000059.3(BRCA2): c.4095delT (p.Lys1367Asnfs)deletionPathogenicrs397507703GRCh37Chr 13, 32912587: 32912587
655BRCA2NM_000059.3(BRCA2): c.4101delA (p.Lys1367Asnfs)deletionPathogenicrs397507705GRCh37Chr 13, 32912593: 32912593
656BRCA2NM_000059.3(BRCA2): c.410delC (p.Ser137Phefs)deletionPathogenicrs80359427GRCh37Chr 13, 32899306: 32899306
657BRCA2NM_000059.3(BRCA2): c.4111C> T (p.Gln1371Ter)SNVPathogenicrs80358659GRCh37Chr 13, 32912603: 32912603
658BRCA2NM_000059.3(BRCA2): c.4121delA (p.Lys1374Argfs)deletionPathogenicrs397507707GRCh37Chr 13, 32912613: 32912613
659BRCA2NM_000059.3(BRCA2): c.4130delA (p.Asn1377Thrfs)deletionPathogenicrs80359428GRCh37Chr 13, 32912622: 32912622
660BRCA2NM_000059.3(BRCA2): c.4133_4136delCTCA (p.Thr1378Argfs)deletionPathogenicrs80359430GRCh37Chr 13, 32912625: 32912628
661BRCA2NM_000059.3(BRCA2): c.4137_4141delGATTA (p.Ile1380Argfs)deletionPathogenicrs80359431GRCh37Chr 13, 32912629: 32912633
662BRCA2NM_000059.3(BRCA2): c.4139_4140dupTT (p.Lys1381Leufs)duplicationPathogenicrs276174842GRCh37Chr 13, 32912631: 32912632
663BRCA2NM_000059.3(BRCA2): c.4151delT (p.Leu1384Cysfs)deletionPathogenicrs397507710GRCh37Chr 13, 32912643: 32912643
664BRCA2NM_000059.3(BRCA2): c.4169delT (p.Leu1390Trpfs)deletionPathogenicrs80359433GRCh37Chr 13, 32912661: 32912661
665BRCA2NM_000059.3(BRCA2): c.4171delG (p.Glu1391Lysfs)deletionPathogenicrs397507711GRCh37Chr 13, 32912663: 32912663
666BRCA2NM_000059.3(BRCA2): c.4188delA (p.Glu1397Lysfs)deletionPathogenicrs80359434GRCh37Chr 13, 32912680: 32912680
667BRCA2NM_000059.3(BRCA2): c.4218_4221delAGAA (p.Lys1406Asnfs)deletionPathogenicrs80359435GRCh37Chr 13, 32912710: 32912713
668BRCA2NM_000059.3(BRCA2): c.4223delA (p.Gln1408Argfs)deletionPathogenicrs397507712GRCh37Chr 13, 32912715: 32912715
669BRCA2NM_000059.3(BRCA2): c.4258delG (p.Asp1420Ilefs)deletionPathogenicrs80359436GRCh37Chr 13, 32912750: 32912750
670BRCA2NM_000059.3(BRCA2): c.4271delC (p.Ser1424Leufs)deletionPathogenicrs80359437GRCh37Chr 13, 32912763: 32912763
671BRCA2NM_000059.3(BRCA2): c.4285C> T (p.Gln1429Ter)SNVPathogenicrs80358665GRCh37Chr 13, 32912777: 32912777
672BRCA2NM_000059.3(BRCA2): c.4314delC (p.Ala1439Profs)deletionPathogenicrs80359441GRCh37Chr 13, 32912806: 32912806
673BRCA2NM_000059.3(BRCA2): c.4325C> A (p.Ser1442Ter)SNVPathogenicrs80358670GRCh37Chr 13, 32912817: 32912817
674BRCA2NM_000059.3(BRCA2): c.4339delG (p.Val1447Terfs)deletionPathogenicrs80359443GRCh37Chr 13, 32912831: 32912831
675BRCA2NM_000059.3(BRCA2): c.4380_4381delTT (p.Ser1461Leufs)deletionPathogenicrs397507715GRCh37Chr 13, 32912872: 32912873
676BRCA2NM_000059.3(BRCA2): c.438delA (p.Gln147Asnfs)deletionPathogenicrs397507716GRCh37Chr 13, 32900250: 32900250
677BRCA2NM_000059.3(BRCA2): c.4398_4402delACATT (p.Leu1466Phefs)deletionPathogenicrs80359444GRCh37Chr 13, 32912890: 32912894
678BRCA2NM_000059.3(BRCA2): c.439C> T (p.Gln147Ter)SNVPathogenicrs397507717GRCh37Chr 13, 32900251: 32900251
679BRCA2NM_000059.3(BRCA2): c.4409_4410delTA (p.Ile1470Lysfs)deletionPathogenicrs80359446GRCh37Chr 13, 32912901: 32912902
680BRCA2NM_000059.3(BRCA2): c.4409_4413delTAAGA (p.Ile1470Lysfs)deletionPathogenicrs397507718GRCh37Chr 13, 32912901: 32912905
681BRCA2NM_000059.3(BRCA2): c.4423delA (p.Met1475Trpfs)deletionPathogenicrs80359447GRCh37Chr 13, 32912915: 32912915
682BRCA2NM_000059.3(BRCA2): c.4440T> G (p.Tyr1480Ter)SNVPathogenicrs397507719GRCh37Chr 13, 32912932: 32912932
683BRCA2NM_000059.3(BRCA2): c.4456_4459delGTTA (p.Val1486Asnfs)deletionPathogenicrs80359449GRCh37Chr 13, 32912948: 32912951
684BRCA2NM_000059.3(BRCA2): c.4471_4474delCTGA (p.Leu1491Lysfs)deletionPathogenicrs80359451GRCh37Chr 13, 32912963: 32912966
685BRCA2NM_000059.3(BRCA2): c.4478_4481delAAAG (p.Glu1493Valfs)deletionPathogenicrs80359454GRCh37Chr 13, 32912970: 32912973
686BRCA2NM_000059.3(BRCA2): c.4480dupA (p.Ser1494Lysfs)duplicationPathogenicrs80359453GRCh37Chr 13, 32912972: 32912972
687BRCA2NM_000059.3(BRCA2): c.4525C> T (p.Gln1509Ter)SNVPathogenicrs80358683GRCh37Chr 13, 32913017: 32913017
688BRCA2NM_000059.3(BRCA2): c.4535delG (p.Arg1512Leufs)deletionPathogenicrs397507723GRCh37Chr 13, 32913027: 32913027
689BRCA2NM_000059.3(BRCA2): c.4546dupA (p.Ile1516Asnfs)duplicationPathogenicrs80359456GRCh37Chr 13, 32913038: 32913038
690BRCA2NM_000059.3(BRCA2): c.4551_4554delAGAA (p.Lys1517Asnfs)deletionPathogenicrs80359457GRCh37Chr 13, 32913043: 32913046
691BRCA2NM_000059.3(BRCA2): c.4552G> T (p.Glu1518Ter)SNVPathogenicrs397507727GRCh37Chr 13, 32913044: 32913044
692BRCA2NM_000059.3(BRCA2): c.4554delA (p.Glu1518Aspfs)deletionPathogenicrs80359458GRCh37Chr 13, 32913046: 32913046
693BRCA2NM_000059.3(BRCA2): c.4556delC (p.Pro1519Leufs)deletionPathogenicrs397507728GRCh37Chr 13, 32913048: 32913048
694BRCA2NM_000059.3(BRCA2): c.4588A> T (p.Lys1530Ter)SNVPathogenicrs80358692GRCh37Chr 13, 32913080: 32913080
695BRCA2NM_000059.3(BRCA2): c.4593dupA (p.Val1532Serfs)duplicationPathogenicrs397507732GRCh37Chr 13, 32913085: 32913085
696BRCA2NM_000059.3(BRCA2): c.462_463delAA (p.Asp156Terfs)deletionPathogenicrs80359459GRCh37Chr 13, 32900274: 32900275
697BRCA2NM_000059.3(BRCA2): c.4647_4650delAGAG (p.Lys1549Asnfs)deletionPathogenicrs397507734GRCh37Chr 13, 32913139: 32913142
698BRCA2NM_000059.3(BRCA2): c.469_470delAA (p.Lys157Valfs)deletionPathogenicrs397507739GRCh37Chr 13, 32900281: 32900282
699BRCA2NM_000059.3(BRCA2): c.470_474delAGTCA (p.Lys157Serfs)deletionPathogenicrs80359463GRCh37Chr 13, 32900282: 32900286
700BRCA2NM_000059.3(BRCA2): c.4731_4736delATTAGCinsG (p.Leu1578Metfs)indelPathogenicrs276174846GRCh37Chr 13, 32913223: 32913228
701BRCA2NM_000059.3(BRCA2): c.4742_4743insTG (p.Glu1581Aspfs)insertionPathogenicrs276174847GRCh37Chr 13, 32913234: 32913235
702BRCA2NM_000059.3(BRCA2): c.475+1G> ASNVPathogenicrs81002797GRCh37Chr 13, 32900288: 32900288
703BRCA2NM_000059.3(BRCA2): c.475+1G> TSNVLikely pathogenic, Pathogenicrs81002797GRCh37Chr 13, 32900288: 32900288
704BRCA2NM_000059.3(BRCA2): c.475+3A> GSNVPathogenicrs81002795GRCh37Chr 13, 32900290: 32900290
705BRCA2NM_000059.3(BRCA2): c.475G> A (p.Val159Met)SNVLikely pathogenic, Pathogenicrs80358702GRCh37Chr 13, 32900287: 32900287
706BRCA2NM_000059.3(BRCA2): c.4766delC (p.Pro1589Glnfs)deletionPathogenicrs397507741GRCh37Chr 13, 32913258: 32913258
707BRCA2NM_000059.3(BRCA2): c.4780delA (p.Met1594Cysfs)deletionPathogenicrs397507742GRCh37Chr 13, 32913272: 32913272
708BRCA2NM_000059.3(BRCA2): c.4797delT (p.Asn1599Lysfs)deletionPathogenicrs80359465GRCh37Chr 13, 32913289: 32913289
709BRCA2NM_000059.3(BRCA2): c.4808delA (p.Asn1603Thrfs)deletionPathogenicrs397507743GRCh37Chr 13, 32913300: 32913300
710BRCA2NM_000059.3(BRCA2): c.4808dupA (p.Asn1603Lysfs)duplicationPathogenicrs80359466GRCh37Chr 13, 32913300: 32913300
711BRCA2NM_000059.3(BRCA2): c.4828dupG (p.Val1610Glyfs)duplicationPathogenicrs397507744GRCh37Chr 13, 32913320: 32913320
712BRCA2NM_000059.3(BRCA2): c.4829_4830delTG (p.Val1610Glyfs)deletionPathogenicrs80359468GRCh37Chr 13, 32913321: 32913322
713BRCA2NM_000059.3(BRCA2): c.4845_4846delCT (p.Leu1616Lysfs)deletionPathogenicrs80359469GRCh37Chr 13, 32913337: 32913338
714BRCA2NM_000059.3(BRCA2): c.4859T> G (p.Leu1620Ter)SNVPathogenicrs80358710GRCh37Chr 13, 32913351: 32913351
715BRCA2NM_000059.3(BRCA2): c.4889C> A (p.Ser1630Ter)SNVPathogenicrs80358711GRCh37Chr 13, 32913381: 32913381
716BRCA2NM_000059.3(BRCA2): c.4889C> G (p.Ser1630Ter)SNVPathogenicrs80358711GRCh37Chr 13, 32913381: 32913381
717BRCA2NM_000059.3(BRCA2): c.4894_4895delAG (p.Ser1632Tyrfs)deletionPathogenicrs397507748GRCh37Chr 13, 32913386: 32913387
718BRCA2NM_000059.3(BRCA2): c.491T> A (p.Leu164Ter)SNVPathogenicrs80358717GRCh37Chr 13, 32900394: 32900394
719BRCA2NM_000059.3(BRCA2): c.4933A> T (p.Lys1645Ter)SNVPathogenicrs80358719GRCh37Chr 13, 32913425: 32913425
720BRCA2NM_000059.3(BRCA2): c.4935delA (p.Glu1646Lysfs)deletionPathogenicrs80359472GRCh37Chr 13, 32913427: 32913427
721BRCA2NM_000059.3(BRCA2): c.4940_4941delCA (p.Thr1647Serfs)deletionPathogenicrs397507751GRCh37Chr 13, 32913432: 32913433
722BRCA2NM_000059.3(BRCA2): c.4947_4948delAA (p.Pro1651Cysfs)deletionPathogenicrs80359474GRCh37Chr 13, 32913439: 32913440
723BRCA2NM_000059.3(BRCA2): c.4952delC (p.Pro1651Leufs)deletionPathogenicrs397507752GRCh37Chr 13, 32913444: 32913444
724BRCA2NM_000059.3(BRCA2): c.4965C> A (p.Tyr1655Ter)SNVPathogenicrs80358721GRCh37Chr 13, 32913457: 32913457
725BRCA2NM_000059.3(BRCA2): c.4965delC (p.Tyr1655Terfs)deletionPathogenicrs80359475GRCh37Chr 13, 32913457: 32913457
726BRCA2NM_000059.3(BRCA2): c.4987_4990delGTCA (p.Val1663Leufs)deletionPathogenicrs397507753GRCh37Chr 13, 32913479: 32913482
727BRCA2NM_000059.3(BRCA2): c.5065_5066delGCinsAAA (p.Ala1689Lysfs)indelPathogenicrs276174852GRCh37Chr 13, 32913557: 32913558
728BRCA2NM_000059.3(BRCA2): c.5073delA (p.Lys1691Asnfs)deletionPathogenicrs80359481GRCh37Chr 13, 32913565: 32913565
729BRCA2NM_000059.3(BRCA2): c.5086_5087insA (p.Gly1696Glufs)insertionPathogenicrs397507757GRCh37Chr 13, 32913578: 32913579
730BRCA2NM_000059.3(BRCA2): c.5101C> T (p.Gln1701Ter)SNVPathogenicrs397507758GRCh37Chr 13, 32913593: 32913593
731BRCA2NM_000059.3(BRCA2): c.5107G> T (p.Glu1703Ter)SNVPathogenicrs80358735GRCh37Chr 13, 32913599: 32913599
732BRCA2NM_000059.3(BRCA2): c.5116_5119delAATA (p.Asn1706Leufs)deletionPathogenicrs276174853GRCh37Chr 13, 32913608: 32913611
733BRCA2NM_000059.3(BRCA2): c.5130_5133delTGTA (p.Tyr1710Terfs)deletionPathogenicrs80359484GRCh37Chr 13, 32913622: 32913625
734BRCA2NM_000059.3(BRCA2): c.5141_5144delATTT (p.Tyr1714Cysfs)deletionPathogenicrs80359487GRCh37Chr 13, 32913633: 32913636
735BRCA2NM_000059.3(BRCA2): c.5146_5149delTATG (p.Tyr1716Lysfs)deletionPathogenicrs276174854GRCh37Chr 13, 32913638: 32913641
736BRCA2NM_000059.3(BRCA2): c.5157_5161delTTCAA (p.Asn1719Lysfs)deletionPathogenicrs80359488GRCh37Chr 13, 32913649: 32913653
737BRCA2NM_000059.3(BRCA2): c.5158dupT (p.Ser1720Phefs)duplicationPathogenicrs80359489GRCh37Chr 13, 32913650: 32913650
738BRCA2NM_000059.3(BRCA2): c.5159C> G (p.Ser1720Ter)SNVPathogenicrs80358740GRCh37Chr 13, 32913651: 32913651
739BRCA2NM_000059.3(BRCA2): c.516+1G> ASNVPathogenicrs397507762GRCh37Chr 13, 32900420: 32900420
740BRCA2NM_000059.3(BRCA2): c.516+1G> CSNVPathogenicrs397507762GRCh37Chr 13, 32900420: 32900420
741BRCA2NM_000059.3(BRCA2): c.516+2T> ASNVPathogenicrs397507764GRCh37Chr 13, 32900421: 32900421
742BRCA2NM_000059.3(BRCA2): c.5164_5165delAG (p.Ser1722Tyrfs)deletionPathogenicrs80359490GRCh37Chr 13, 32913656: 32913657
743BRCA2NM_000059.3(BRCA2): c.516_516+1insCinsertionPathogenicrs397507766GRCh37Chr 13, 32900419: 32900420
744BRCA2NM_000059.3(BRCA2): c.517-1G> ASNVPathogenicrs81002849GRCh37Chr 13, 32900635: 32900635
745BRCA2NM_000059.3(BRCA2): c.517-2A> GSNVLikely pathogenic, Pathogenicrs81002858GRCh37Chr 13, 32900634: 32900634
746BRCA2NM_000059.3(BRCA2): c.5180delA (p.Asn1727Metfs)deletionPathogenicrs80359491GRCh37Chr 13, 32913672: 32913672
747BRCA2NM_000059.3(BRCA2): c.5180dupA (p.Asn1727Lysfs)duplicationPathogenicrs397507769GRCh37Chr 13, 32913672: 32913672
748BRCA2NM_000059.3(BRCA2): c.5197dupT (p.Ser1733Phefs)duplicationPathogenicrs397507771GRCh37Chr 13, 32913689: 32913689
749BRCA2NM_000059.3(BRCA2): c.51_52delAC (p.Arg18Leufs)deletionPathogenicrs80359483GRCh37Chr 13, 32890648: 32890649
750BRCA2NM_000059.3(BRCA2): c.51dupA (p.Arg18Thrfs)duplicationPathogenicrs397507772GRCh37Chr 13, 32890648: 32890648
751BRCA2NM_000059.3(BRCA2): c.5207_5208delAA (p.Gln1736Argfs)deletionPathogenicrs397507773GRCh37Chr 13, 32913699: 32913700
752BRCA2NM_000059.3(BRCA2): c.5208delA (p.Asp1737Ilefs)deletionPathogenicrs397507774GRCh37Chr 13, 32913700: 32913700
753BRCA2NM_000059.3(BRCA2): c.5217T> A (p.Tyr1739Ter)SNVPathogenicrs80358746GRCh37Chr 13, 32913709: 32913709
754BRCA2NM_000059.3(BRCA2): c.5217_5220delTTTA (p.Tyr1739Terfs)deletionPathogenicrs80359494GRCh37Chr 13, 32913709: 32913712
755BRCA2NM_000059.3(BRCA2): c.5217_5221delTTTAA (p.Tyr1739Terfs)deletionPathogenicrs80359495GRCh37Chr 13, 32913709: 32913713
756BRCA2NM_000059.3(BRCA2): c.5217_5223delTTTAAGT (p.Tyr1739Terfs)deletionPathogenicrs80359496GRCh37Chr 13, 32913709: 32913715
757BRCA2NM_000059.3(BRCA2): c.5217_5224delTTTAAGTA (p.Tyr1739Terfs)deletionPathogenicrs80359497GRCh37Chr 13, 32913709: 32913716
758BRCA2NM_000059.3(BRCA2): c.5254delC (p.His1752Ilefs)deletionPathogenicrs397507777GRCh37Chr 13, 32913746: 32913746
759BRCA2NM_000059.3(BRCA2): c.5279C> G (p.Ser1760Ter)SNVPathogenicrs80358751GRCh37Chr 13, 32913771: 32913771
760BRCA2NM_000059.3(BRCA2): c.5286T> A (p.Tyr1762Ter)SNVPathogenicrs80358754GRCh37Chr 13, 32913778: 32913778
761BRCA2NM_000059.3(BRCA2): c.5344C> T (p.Gln1782Ter)SNVPathogenicrs80358757GRCh37Chr 13, 32913836: 32913836
762BRCA2NM_000059.3(BRCA2): c.5344_5345delCA (p.Gln1782Lysfs)deletionPathogenicrs80359506GRCh37Chr 13, 32913836: 32913837
763BRCA2NM_000059.3(BRCA2): c.5350_5351delAAinsT (p.Asn1784Serfs)indelPathogenicrs397507779GRCh37Chr 13, 32913842: 32913843
764BRCA2NM_000059.3(BRCA2): c.5353_5354delAC (p.Thr1785Terfs)deletionPathogenicrs397507780GRCh37Chr 13, 32913845: 32913846
765BRCA2NM_000059.3(BRCA2): c.5355dupT (p.Ser1786Terfs)duplicationPathogenicrs397507781GRCh37Chr 13, 32913847: 32913847
766BRCA2NM_000059.3(BRCA2): c.5380delG (p.Val1794Terfs)deletionPathogenicrs397507782GRCh37Chr 13, 32913872: 32913872
767BRCA2NM_000059.3(BRCA2): c.538_539delAT (p.Ile180Phefs)deletionPathogenicrs80359510GRCh37Chr 13, 32900657: 32900658
768BRCA2NM_000059.3(BRCA2): c.538_539dupAT (p.Ser181Phefs)duplicationPathogenicrs80359511GRCh37Chr 13, 32900657: 32900658
769BRCA2NM_000059.3(BRCA2): c.5404C> T (p.Gln1802Ter)SNVPathogenicrs80358763GRCh37Chr 13, 32913896: 32913896
770BRCA2NM_000059.3(BRCA2): c.5428G> A (p.Val1810Ile)SNVPathogenicrs80358766GRCh37Chr 13, 32913920: 32913920
771BRCA2NM_000059.3(BRCA2): c.5434G> T (p.Glu1812Ter)SNVPathogenicrs80358767GRCh37Chr 13, 32913926: 32913926
772BRCA2NM_000059.3(BRCA2): c.5439delT (p.Val1814Terfs)deletionPathogenicrs397507785GRCh37Chr 13, 32913931: 32913931
773BRCA2NM_000059.3(BRCA2): c.5454delA (p.Cys1820Alafs)deletionPathogenicrs80359513GRCh37Chr 13, 32913946: 32913946
774BRCA2NM_000059.3(BRCA2): c.5466dupT (p.Lys1823Terfs)duplicationPathogenicrs80359514GRCh37Chr 13, 32913958: 32913958
775BRCA2NM_000059.3(BRCA2): c.5471delA (p.Asn1824Metfs)deletionPathogenicrs397507786GRCh37Chr 13, 32913963: 32913963
776BRCA2NM_000059.3(BRCA2): c.5526delT (p.Ala1843Hisfs)deletionPathogenicrs80359518GRCh37Chr 13, 32914018: 32914018
777BRCA2NM_000059.3(BRCA2): c.5542delA (p.Ser1848Valfs)deletionPathogenicrs80359519GRCh37Chr 13, 32914034: 32914034
778BRCA2NM_000059.3(BRCA2): c.5560_5561delGT (p.Val1854Phefs)deletionPathogenicrs397507787GRCh37Chr 13, 32914052: 32914053
779BRCA2NM_000059.3(BRCA2): c.5569G> T (p.Glu1857Ter)SNVPathogenicrs80358778GRCh37Chr 13, 32914061: 32914061
780BRCA2NM_000059.3(BRCA2): c.5569_5573delGAAAC (p.Glu1857Asnfs)deletionPathogenicrs397507788GRCh37Chr 13, 32914061: 32914065
781BRCA2NM_000059.3(BRCA2): c.5577_5580delTAAA (p.Lys1861Terfs)deletionPathogenicrs80359522GRCh37Chr 13, 32914069: 32914072
782BRCA2NM_000059.3(BRCA2): c.5583dupA (p.Val1862Serfs)duplicationPathogenicrs397507790GRCh37Chr 13, 32914075: 32914075
783BRCA2NM_000059.3(BRCA2): c.5585_5588delTGAA (p.Val1862Glufs)deletionPathogenicrs80359523GRCh37Chr 13, 32914077: 32914080
784BRCA2NM_000059.3(BRCA2): c.5592_5593delCA (p.Phe1866Tyrfs)deletionPathogenicrs397507791GRCh37Chr 13, 32914084: 32914085
785BRCA2NM_000059.3(BRCA2): c.5609_5610delTCinsAG (p.Phe1870Ter)indelPathogenicrs276174859GRCh37Chr 13, 32914101: 32914102
786BRCA2NM_000059.3(BRCA2): c.5616_5620delAGTAA (p.Lys1872Asnfs)deletionPathogenicrs80359525GRCh37Chr 13, 32914108: 32914112
787BRCA2NM_000059.3(BRCA2): c.5624delA (p.Lys1875Argfs)deletionPathogenicrs397507792GRCh37Chr 13, 32914116: 32914116
788BRCA2NM_000059.3(BRCA2): c.5626G> T (p.Glu1876Ter)SNVPathogenicrs397507793GRCh37Chr 13, 32914118: 32914118
789BRCA2NM_000059.3(BRCA2): c.5641_5644delAAAT (p.Lys1881Glnfs)deletionPathogenicrs276174860GRCh37Chr 13, 32914133: 32914136
790BRCA2NM_000059.3(BRCA2): c.5656C> T (p.Gln1886Ter)SNVPathogenicrs80358790GRCh37Chr 13, 32914148: 32914148
791BRCA2NM_000059.3(BRCA2): c.5665delA (p.Ile1889Leufs)deletionPathogenicrs397507796GRCh37Chr 13, 32914157: 32914157
792BRCA2NM_000059.3(BRCA2): c.5699C> A (p.Ser1900Ter)SNVPathogenicrs397507797GRCh37Chr 13, 32914191: 32914191
793BRCA2NM_000059.3(BRCA2): c.5702_5703delAG (p.Glu1901Glyfs)deletionPathogenicrs80359528GRCh37Chr 13, 32914194: 32914195
794BRCA2NM_000059.3(BRCA2): c.5717_5718delAC (p.Asn1906Ilefs)deletionPathogenicrs80359529GRCh37Chr 13, 32914209: 32914210
795BRCA2NM_000059.3(BRCA2): c.5724delA (p.Asp1909Ilefs)deletionPathogenicrs80359532GRCh37Chr 13, 32914216: 32914216
796BRCA2NM_000059.3(BRCA2): c.572delAinsCT (p.Asp191Alafs)indelPathogenicrs397507799GRCh37Chr 13, 32900691: 32900691
797BRCA2NM_000059.3(BRCA2): c.5734G> T (p.Glu1912Ter)SNVPathogenicrs397507800GRCh37Chr 13, 32914226: 32914226
798BRCA2NM_000059.3(BRCA2): c.5739T> A (p.Cys1913Ter)SNVPathogenicrs397507801GRCh37Chr 13, 32914231: 32914231
799BRCA2NM_000059.3(BRCA2): c.574dupA (p.Met192Asnfs)duplicationPathogenicrs397507802GRCh37Chr 13, 32900693: 32900693
800BRCA2NM_000059.3(BRCA2): c.5754_5755delTA (p.His1918Glnfs)deletionPathogenicrs397507803GRCh37Chr 13, 32914246: 32914247
801BRCA2NM_000059.3(BRCA2): c.5763dupT (p.Ala1922Cysfs)duplicationPathogenicrs80359534GRCh37Chr 13, 32914255: 32914255
802BRCA2NM_000059.3(BRCA2): c.5771_5774delTTCA (p.Ile1924Argfs)deletionPathogenicrs80359535GRCh37Chr 13, 32914263: 32914266
803BRCA2NM_000059.3(BRCA2): c.5773C> T (p.Gln1925Ter)SNVPathogenicrs80358806GRCh37Chr 13, 32914265: 32914265
804BRCA2NM_000059.3(BRCA2): c.5778_5779delTG (p.Ser1926Argfs)deletionPathogenicrs80359536GRCh37Chr 13, 32914270: 32914271
805BRCA2NM_000059.3(BRCA2): c.5789T> A (p.Leu1930Ter)SNVPathogenicrs397507805GRCh37Chr 13, 32914281: 32914281
806BRCA2NM_000059.3(BRCA2): c.5789delT (p.Leu1930Tyrfs)deletionPathogenicrs397507806GRCh37Chr 13, 32914281: 32914281
807BRCA2NM_000059.3(BRCA2): c.5791C> T (p.Gln1931Ter)SNVPathogenicrs80358807GRCh37Chr 13, 32914283: 32914283
808BRCA2NM_000059.3(BRCA2): c.5796_5797delTA (p.His1932Glnfs)deletionPathogenicrs80359537GRCh37Chr 13, 32914288: 32914289
809BRCA2NM_000059.3(BRCA2): c.581G> A (p.Trp194Ter)SNVPathogenicrs80358809GRCh37Chr 13, 32900700: 32900700
810BRCA2NM_000059.3(BRCA2): c.5820_5833delGAAAGTTTCTAAAA (p.Glu1940Aspfs)deletionPathogenicrs80359539GRCh37Chr 13, 32914312: 32914325
811BRCA2NM_000059.3(BRCA2): c.5823delA (p.Val1942Phefs)deletionPathogenicrs80359540GRCh37Chr 13, 32914315: 32914315
812BRCA2NM_000059.3(BRCA2): c.5836_5837insA (p.Ser1946Tyrfs)insertionPathogenicrs80359542GRCh37Chr 13, 32914328: 32914329
813BRCA2NM_000059.3(BRCA2): c.5857G> T (p.Glu1953Ter)SNVPathogenicrs80358814GRCh37Chr 13, 32914349: 32914349
814BRCA2NM_000059.3(BRCA2): c.5857delG (p.Glu1953Lysfs)deletionPathogenicrs80359545GRCh37Chr 13, 32914349: 32914349
815BRCA2NM_000059.3(BRCA2): c.5864C> A (p.Ser1955Ter)SNVPathogenicrs80358815GRCh37Chr 13, 32914356: 32914356
816BRCA2NM_000059.3(BRCA2): c.5864C> G (p.Ser1955Ter)SNVPathogenicrs80358815GRCh37Chr 13, 32914356: 32914356
817BRCA2NM_000059.3(BRCA2): c.5898delT (p.His1966Glnfs)deletionPathogenicrs397507811GRCh37Chr 13, 32914390: 32914390
818BRCA2NM_000059.3(BRCA2): c.5904_5907delAGTC (p.Val1969Hisfs)deletionPathogenicrs80359547GRCh37Chr 13, 32914396: 32914399
819BRCA2NM_000059.3(BRCA2): c.5925T> A (p.Cys1975Ter)SNVPathogenicrs80358825GRCh37Chr 13, 32914417: 32914417
820BRCA2NM_000059.3(BRCA2): c.5945dupG (p.Ser1982Argfs)duplicationPathogenicrs397507812GRCh37Chr 13, 32914437: 32914437
821BRCA2NM_000059.3(BRCA2): c.5946_5949delTGGA (p.Ser1982Argfs)deletionPathogenicrs80359549GRCh37Chr 13, 32914438: 32914441
822BRCA2NM_000059.3(BRCA2): c.5952dupA (p.Ser1985Ilefs)duplicationPathogenicrs397507814GRCh37Chr 13, 32914444: 32914444
823BRCA2NM_000059.3(BRCA2): c.5954_5955delCT (p.Ser1985Cysfs)deletionPathogenicrs80359551GRCh37Chr 13, 32914446: 32914447
824BRCA2NM_000059.3(BRCA2): c.5959C> T (p.Gln1987Ter)SNVPathogenicrs80358828GRCh37Chr 13, 32914451: 32914451
825BRCA2NM_000059.3(BRCA2): c.5967dupA (p.Asp1990Argfs)duplicationPathogenicrs276174865GRCh37Chr 13, 32914459: 32914459
826BRCA2NM_000059.3(BRCA2): c.5968_5969delGA (p.Asp1990Cysfs)deletionPathogenicrs80359552GRCh37Chr 13, 32914460: 32914461
827BRCA2NM_000059.3(BRCA2): c.5984dupA (p.Asn1995Lysfs)duplicationPathogenicrs397507818GRCh37Chr 13, 32914476: 32914476
828BRCA2NM_000059.3(BRCA2): c.5992C> T (p.Gln1998Ter)SNVPathogenicrs397507819GRCh37Chr 13, 32914484: 32914484
829BRCA2NM_000059.3(BRCA2): c.5delC (p.Pro2Leufs)deletionPathogenicrs397507820GRCh37Chr 13, 32890602: 32890602
830BRCA2NM_000059.3(BRCA2): c.6001delT (p.Ser2001Leufs)deletionPathogenicrs80359553GRCh37Chr 13, 32914493: 32914493
831BRCA2NM_000059.3(BRCA2): c.6025C> T (p.Gln2009Ter)SNVPathogenicrs80358838GRCh37Chr 13, 32914517: 32914517
832BRCA2NM_000059.3(BRCA2): c.6033_6034delTT (p.Ser2012Glnfs)deletionPathogenicrs397507823GRCh37Chr 13, 32914525: 32914526
833BRCA2NM_000059.3(BRCA2): c.6033_6034insGT (p.Ser2012Valfs)insertionPathogenicrs397507824GRCh37Chr 13, 32914525: 32914526
834BRCA2NM_000059.3(BRCA2): c.6058G> T (p.Glu2020Ter)SNVPathogenicrs80358842GRCh37Chr 13, 32914550: 32914550
835BRCA2NM_000059.3(BRCA2): c.6065C> G (p.Ser2022Ter)SNVPathogenicrs80358843GRCh37Chr 13, 32914557: 32914557
836BRCA2NM_000059.3(BRCA2): c.6068_6072delACCAG (p.Asp2023Alafs)deletionPathogenicrs80359555GRCh37Chr 13, 32914560: 32914564
837BRCA2NM_000059.3(BRCA2): c.6070C> T (p.Gln2024Ter)SNVPathogenicrs80358844GRCh37Chr 13, 32914562: 32914562
838BRCA2NM_000059.3(BRCA2): c.6071delA (p.Gln2024Argfs)deletionPathogenicrs80359556GRCh37Chr 13, 32914563: 32914563
839BRCA2NM_000059.3(BRCA2): c.6078_6079delAA (p.Glu2028Argfs)deletionPathogenicrs80359557GRCh37Chr 13, 32914570: 32914571
840BRCA2NM_000059.3(BRCA2): c.6079dupA (p.Arg2027Lysfs)duplicationPathogenicrs397507826GRCh37Chr 13, 32914571: 32914571
841BRCA2NM_000059.3(BRCA2): c.6082G> T (p.Glu2028Ter)SNVPathogenicrs397507827GRCh37Chr 13, 32914574: 32914574
842BRCA2NM_000059.3(BRCA2): c.6082_6086delGAAGA (p.Glu2028Lysfs)deletionPathogenicrs80359558GRCh37Chr 13, 32914574: 32914578
843BRCA2NM_000059.3(BRCA2): c.6085G> T (p.Glu2029Ter)SNVPathogenicrs397507828GRCh37Chr 13, 32914577: 32914577
844BRCA2NM_000059.3(BRCA2): c.6096dupT (p.Ile2033Tyrfs)duplicationPathogenicrs397507829GRCh37Chr 13, 32914588: 32914588
845BRCA2NM_000059.3(BRCA2): c.6103delA (p.Thr2035Leufs)deletionPathogenicrs80359559GRCh37Chr 13, 32914595: 32914595
846BRCA2NM_000059.3(BRCA2): c.610_613dupCTTA (p.Ser205Thrfs)duplicationPathogenicrs397507830GRCh37Chr 13, 32900729: 32900732
847BRCA2NM_000059.3(BRCA2): c.610delC (p.Ser205Valfs)deletionPathogenicrs80359560GRCh37Chr 13, 32900729: 32900729
848BRCA2NM_000059.3(BRCA2): c.6124C> T (p.Gln2042Ter)SNVPathogenicrs80358851GRCh37Chr 13, 32914616: 32914616
849BRCA2NM_000059.3(BRCA2): c.6129dupA (p.Gly2044Argfs)duplicationPathogenicrs80359561GRCh37Chr 13, 32914621: 32914621
850BRCA2NM_000059.3(BRCA2): c.6154delT (p.Ser2052Hisfs)deletionPathogenicrs80359562GRCh37Chr 13, 32914646: 32914646
851BRCA2NM_000059.3(BRCA2): c.6164delT (p.Phe2055Serfs)deletionPathogenicrs397507831GRCh37Chr 13, 32914656: 32914656
852BRCA2NM_000059.3(BRCA2): c.6169G> T (p.Gly2057Ter)SNVPathogenicrs80358856GRCh37Chr 13, 32914661: 32914661
853BRCA2NM_000059.3(BRCA2): c.6178delA (p.Thr2060Glnfs)deletionPathogenicrs80359563GRCh37Chr 13, 32914670: 32914670
854BRCA2NM_000059.3(BRCA2): c.6198_6199delTT (p.Ser2067Hisfs)deletionPathogenicrs80359564GRCh37Chr 13, 32914690: 32914691
855BRCA2NM_000059.3(BRCA2): c.6201delC (p.Ile2068Phefs)deletionPathogenicrs80359565GRCh37Chr 13, 32914693: 32914693
856BRCA2NM_000059.3(BRCA2): c.6202dupA (p.Ile2068Asnfs)duplicationPathogenicrs397507833GRCh37Chr 13, 32914694: 32914694
857BRCA2NM_000059.3(BRCA2): c.6209_6212delAAAG (p.Glu2070Valfs)deletionPathogenicrs276174866GRCh37Chr 13, 32914701: 32914704
858BRCA2NM_000059.3(BRCA2): c.6216delC (p.Leu2073Tyrfs)deletionPathogenicrs80359567GRCh37Chr 13, 32914708: 32914708
859BRCA2NM_000059.3(BRCA2): c.6220_6222delCACinsAA (p.His2074Lysfs)indelPathogenicrs276174867GRCh37Chr 13, 32914712: 32914714
860BRCA2NM_000059.3(BRCA2): c.6239T> G (p.Leu2080Ter)SNVPathogenicrs80358864GRCh37Chr 13, 32914731: 32914731
861BRCA2NM_000059.3(BRCA2): c.6240dupA (p.Glu2081Argfs)duplicationPathogenicrs80359570GRCh37Chr 13, 32914732: 32914732
862BRCA2NM_000059.3(BRCA2): c.6268_6269delCA (p.His2090Terfs)deletionPathogenicrs397507836GRCh37Chr 13, 32914760: 32914761
863BRCA2NM_000059.3(BRCA2): c.6270_6271delTA (p.His2090Glnfs)deletionPathogenicrs80359571GRCh37Chr 13, 32914762: 32914763
864BRCA2NM_000059.3(BRCA2): c.6280_6286delTATTCAC (p.Tyr2094Leufs)deletionPathogenicrs80359572GRCh37Chr 13, 32914772: 32914778
865BRCA2NM_000059.3(BRCA2): c.6282_6289delTTCACCTA (p.Ser2095Valfs)deletionPathogenicrs80359573GRCh37Chr 13, 32914774: 32914781
866BRCA2NM_000059.3(BRCA2): c.6302delA (p.Asn2101Metfs)deletionPathogenicrs397507839GRCh37Chr 13, 32914794: 32914794
867BRCA2NM_000059.3(BRCA2): c.6308C> A (p.Ser2103Ter)SNVPathogenicrs80358870GRCh37Chr 13, 32914800: 32914800
868BRCA2NM_000059.3(BRCA2): c.631+3A> GSNVPathogenicrs397507840GRCh37Chr 13, 32900753: 32900753
869BRCA2NM_000059.3(BRCA2): c.631+4A> GSNVPathogenicrs397507841GRCh37Chr 13, 32900754: 32900754
870BRCA2NM_000059.3(BRCA2): c.631G> A (p.Val211Ile)SNVPathogenicrs80358871GRCh37Chr 13, 32900750: 32900750
871BRCA2NM_000059.3(BRCA2): c.632-1G> ASNVPathogenicrs81002820GRCh37Chr 13, 32903579: 32903579
872BRCA2NM_000059.3(BRCA2): c.632-1G> CSNVPathogenicrs81002820GRCh37Chr 13, 32903579: 32903579
873BRCA2NM_000059.3(BRCA2): c.632-2A> GSNVPathogenicrs397507842GRCh37Chr 13, 32903578: 32903578
874BRCA2NM_000059.3(BRCA2): c.6325_6326delGT (p.Val2109Terfs)deletionPathogenicrs276174871GRCh37Chr 13, 32914817: 32914818
875BRCA2NM_000059.3(BRCA2): c.6335_6336delGA (p.Arg2112Lysfs)deletionPathogenicrs80359574GRCh37Chr 13, 32914827: 32914828
876BRCA2NM_000059.3(BRCA2): c.6352_6353delGT (p.Val2118Lysfs)deletionPathogenicrs80359576GRCh37Chr 13, 32914844: 32914845
877BRCA2NM_000059.3(BRCA2): c.6353_6366delTAAACTCAGAAATG (p.Val2118Glyfs)deletionPathogenicrs397507844GRCh37Chr 13, 32914845: 32914858
878BRCA2NM_000059.3(BRCA2): c.6359C> G (p.Ser2120Ter)SNVPathogenicrs397507845GRCh37Chr 13, 32914851: 32914851
879BRCA2NM_000059.3(BRCA2): c.6373delA (p.Thr2125Profs)deletionPathogenicrs80359578GRCh37Chr 13, 32914865: 32914865
880BRCA2NM_000059.3(BRCA2): c.6382A> T (p.Lys2128Ter)SNVPathogenicrs80358875GRCh37Chr 13, 32914874: 32914874
881BRCA2NM_000059.3(BRCA2): c.6393_6396delATTA (p.Lys2131Asnfs)deletionPathogenicrs397507849GRCh37Chr 13, 32914885: 32914888
882BRCA2NM_000059.3(BRCA2): c.63delA (p.Ala22Glnfs)deletionPathogenicrs80359582GRCh37Chr 13, 32890660: 32890660
883BRCA2NM_000059.3(BRCA2): c.6401_6404delATAA (p.Asn2134Thrfs)deletionPathogenicrs80359583GRCh37Chr 13, 32914893: 32914896
884BRCA2NM_000059.3(BRCA2): c.6407_6411delTAAAT (p.Leu2136Cysfs)deletionPathogenicrs80359586GRCh37Chr 13, 32914899: 32914903
885BRCA2NM_000059.3(BRCA2): c.6408_6414delAAATGTT (p.Asn2137Lysfs)deletionPathogenicrs397507851GRCh37Chr 13, 32914900: 32914906
886BRCA2NM_000059.3(BRCA2): c.6420_6421insA (p.Gly2141Argfs)insertionPathogenicrs397507852GRCh37Chr 13, 32914912: 32914913
887BRCA2NM_000059.3(BRCA2): c.6422dupG (p.Ser2142Phefs)duplicationPathogenicrs397507853GRCh37Chr 13, 32914914: 32914914
888BRCA2NM_000059.3(BRCA2): c.6443_6444delCT (p.Ser2148Tyrfs)deletionPathogenicrs80359589GRCh37Chr 13, 32914935: 32914936
889BRCA2NM_000059.3(BRCA2): c.6444_6447delTATT (p.Ile2149Lysfs)deletionPathogenicrs80359591GRCh37Chr 13, 32914936: 32914939
890BRCA2NM_000059.3(BRCA2): c.6445_6446delAT (p.Ile2149Terfs)deletionPathogenicrs80359592GRCh37Chr 13, 32914937: 32914938
891BRCA2NM_000059.3(BRCA2): c.6446_6450delTTAAA (p.Ile2149Serfs)deletionPathogenicrs80359593GRCh37Chr 13, 32914938: 32914942
892BRCA2NM_000059.3(BRCA2): c.6447_6448dupTA (p.Lys2150Ilefs)duplicationPathogenicrs397507858GRCh37Chr 13, 32914939: 32914940
893BRCA2NM_000059.3(BRCA2): c.6449_6450delAA (p.Lys2150Serfs)deletionPathogenicrs80359594GRCh37Chr 13, 32914941: 32914942
894BRCA2NM_000059.3(BRCA2): c.6450dupA (p.Val2151Serfs)duplicationPathogenicrs80359595GRCh37Chr 13, 32914942: 32914942
895BRCA2NM_000059.3(BRCA2): c.6462T> G (p.Tyr2154Ter)SNVPathogenicrs80358883GRCh37Chr 13, 32914954: 32914954
896BRCA2NM_000059.3(BRCA2): c.6469C> T (p.Gln2157Ter)SNVPathogenicrs397507859GRCh37Chr 13, 32914961: 32914961
897BRCA2NM_000059.3(BRCA2): c.6490C> T (p.Gln2164Ter)SNVPathogenicrs397507860GRCh37Chr 13, 32914982: 32914982
898BRCA2NM_000059.3(BRCA2): c.6490_6492delCAGinsGACT (p.Gln2164Aspfs)indelPathogenicrs397507861GRCh37Chr 13, 32914982: 32914984
899BRCA2NM_000059.3(BRCA2): c.6490delC (p.Gln2164Serfs)deletionPathogenicrs80359599GRCh37Chr 13, 32914982: 32914982
900BRCA2NM_000059.3(BRCA2): c.6491_6494delAGTT (p.Gln2164Argfs)deletionPathogenicrs397507862GRCh37Chr 13, 32914983: 32914986
901BRCA2NM_000059.3(BRCA2): c.6494delT (p.Leu2165Trpfs)deletionPathogenicrs276174874GRCh37Chr 13, 32914986: 32914986
902BRCA2NM_000059.3(BRCA2): c.6509_6510delAA (p.Lys2170Serfs)deletionPathogenicrs80359600GRCh37Chr 13, 32915001: 32915002
903BRCA2NM_000059.3(BRCA2): c.652G> T (p.Glu218Ter)SNVPathogenicrs80358884GRCh37Chr 13, 32903600: 32903600
904BRCA2NM_000059.3(BRCA2): c.6531_6534delTCAT (p.Ile2177Metfs)deletionPathogenicrs397507865GRCh37Chr 13, 32915023: 32915026
905BRCA2NM_000059.3(BRCA2): c.6547G> T (p.Glu2183Ter)SNVPathogenicrs397507866GRCh37Chr 13, 32915039: 32915039
906BRCA2NM_000059.3(BRCA2): c.6553delG (p.Ala2185Leufs)deletionPathogenicrs80359603GRCh37Chr 13, 32915045: 32915045
907BRCA2NM_000059.3(BRCA2): c.6557C> A (p.Ser2186Ter)SNVPathogenicrs397507867GRCh37Chr 13, 32915049: 32915049
908BRCA2NM_000059.3(BRCA2): c.6600_6601delTT (p.Ser2201Terfs)deletionPathogenicrs80359607GRCh37Chr 13, 32915092: 32915093
909BRCA2NM_000059.3(BRCA2): c.6601delT (p.Ser2201Leufs)deletionPathogenicrs397507869GRCh37Chr 13, 32915093: 32915093
910BRCA2NM_000059.3(BRCA2): c.6603_6604delTG (p.Asp2202Cysfs)deletionPathogenicrs80359608GRCh37Chr 13, 32915095: 32915096
911BRCA2NM_000059.3(BRCA2): c.6626_6627delTA (p.Ile2209Argfs)deletionPathogenicrs80359610GRCh37Chr 13, 32915118: 32915119
912BRCA2NM_000059.3(BRCA2): c.6629_6630delAA (p.Glu2210Glyfs)deletionPathogenicrs80359611GRCh37Chr 13, 32915121: 32915122
913BRCA2NM_000059.3(BRCA2): c.662_663delTT (p.Phe221Serfs)deletionPathogenicrs80359609GRCh37Chr 13, 32903610: 32903611
914BRCA2NM_000059.3(BRCA2): c.6634_6637delTGTT (p.Cys2212Leufs)deletionPathogenicrs397507871GRCh37Chr 13, 32915126: 32915129
915BRCA2NM_000059.3(BRCA2): c.6638delC (p.Ser2213Leufs)deletionPathogenicrs80359612GRCh37Chr 13, 32915130: 32915130
916BRCA2NM_000059.3(BRCA2): c.6643delT (p.Tyr2215Thrfs)deletionPathogenicrs80359614GRCh37Chr 13, 32915135: 32915135
917BRCA2NM_000059.3(BRCA2): c.6644dupA (p.Tyr2215Terfs)duplicationPathogenicrs80359615GRCh37Chr 13, 32915136: 32915136
918BRCA2NM_000059.3(BRCA2): c.6656C> G (p.Ser2219Ter)SNVPathogenicrs80358893GRCh37Chr 13, 32915148: 32915148
919BRCA2NM_000059.3(BRCA2): c.6658_6661delGAAA (p.Glu2220Thrfs)deletionPathogenicrs80359617GRCh37Chr 13, 32915150: 32915153
920BRCA2NM_000059.3(BRCA2): c.6673delA (p.Thr2225Glnfs)deletionPathogenicrs276174875GRCh37Chr 13, 32915165: 32915165
921BRCA2NM_000059.3(BRCA2): c.6676_6677delGA (p.Glu2226Serfs)deletionPathogenicrs80359619GRCh37Chr 13, 32915168: 32915169
922BRCA2NM_000059.3(BRCA2): c.6678delA (p.Ala2227Glnfs)deletionPathogenicrs80359620GRCh37Chr 13, 32915170: 32915170
923BRCA2NM_000059.3(BRCA2): c.6682dupG (p.Val2228Glyfs)duplicationPathogenicrs80359621GRCh37Chr 13, 32915174: 32915174
924BRCA2NM_000059.3(BRCA2): c.6688delA (p.Ile2230Leufs)deletionPathogenicrs397507877GRCh37Chr 13, 32915180: 32915180
925BRCA2NM_000059.3(BRCA2): c.67+1G> ASNVPathogenicrs81002796GRCh37Chr 13, 32890665: 32890665
926BRCA2NM_000059.3(BRCA2): c.67+1G> TSNVPathogenicrs81002796GRCh37Chr 13, 32890665: 32890665
927BRCA2NM_000059.3(BRCA2): c.67+2T> ASNVPathogenicrs81002885GRCh37Chr 13, 32890666: 32890666
928BRCA2NM_000059.3(BRCA2): c.67+2T> CSNVPathogenicrs81002885GRCh37Chr 13, 32890666: 32890666
929BRCA2NM_000059.3(BRCA2): c.6715G> T (p.Glu2239Ter)SNVPathogenicrs276174876GRCh37Chr 13, 32915207: 32915207
930BRCA2NM_000059.3(BRCA2): c.6732delA (p.Lys2244Asnfs)deletionPathogenicrs397507879GRCh37Chr 13, 32915224: 32915224
931BRCA2NM_000059.3(BRCA2): c.673_676delACTA (p.Thr225Leufs)deletionPathogenicrs397507880GRCh37Chr 13, 32903621: 32903624
932BRCA2NM_000059.3(BRCA2): c.6743_6755delATGCCACACATTC (p.His2248Leufs)deletionPathogenicrs80359622GRCh37Chr 13, 32915235: 32915247
933BRCA2NM_000059.3(BRCA2): c.6754dupT (p.Ser2252Phefs)duplicationPathogenicrs180670511GRCh37Chr 13, 32915246: 32915246
934BRCA2NM_000059.3(BRCA2): c.6757_6758delCT (p.Leu2253Phefs)deletionPathogenicrs80359623GRCh37Chr 13, 32915249: 32915250
935BRCA2NM_000059.3(BRCA2): c.6761_6762delTT (p.Phe2254Tyrfs)deletionPathogenicrs80359624GRCh37Chr 13, 32915253: 32915254
936BRCA2NM_000059.3(BRCA2): c.6768T> A (p.Cys2256Ter)SNVPathogenicrs80358901GRCh37Chr 13, 32915260: 32915260
937BRCA2NM_000059.3(BRCA2): c.67G> T (p.Asp23Tyr)SNVPathogenicrs397507881GRCh37Chr 13, 32890664: 32890664
938BRCA2NM_000059.3(BRCA2): c.6809delG (p.Gly2270Glufs)deletionPathogenicrs80359625GRCh37Chr 13, 32915301: 32915301
939BRCA2NM_000059.3(BRCA2): c.681+4A> GSNVPathogenicrs397507884GRCh37Chr 13, 32903633: 32903633
940BRCA2NM_000059.3(BRCA2): c.6814delA (p.Arg2272Glufs)deletionPathogenicrs397507885GRCh37Chr 13, 32915306: 32915306
941BRCA2NM_000059.3(BRCA2): c.6816_6817delAA (p.Gly2274Argfs)deletionPathogenicrs397507886GRCh37Chr 13, 32915308: 32915309
942BRCA2NM_000059.3(BRCA2): c.682-1G> CSNVLikely pathogenic, Pathogenicrs81002831GRCh37Chr 13, 32905055: 32905055
943BRCA2NM_000059.3(BRCA2): c.6833_6837delTCTTA (p.Ile2278Serfs)deletionPathogenicrs80359626GRCh37Chr 13, 32915325: 32915329
944BRCA2NM_000059.3(BRCA2): c.6841+1delGdeletionPathogenicrs397507887GRCh37Chr 13, 32915334: 32915334
945BRCA2NM_000059.3(BRCA2): c.6938-2A> GSNVLikely pathogenic, Pathogenicrs81002863GRCh37Chr 13, 32920962: 32920962
946BRCA2NM_000059.3(BRCA2): c.6959delT (p.Leu2320Cysfs)deletionPathogenicrs397507888GRCh37Chr 13, 32920985: 32920985
947BRCA2NM_000059.3(BRCA2): c.6990_6994delTACCT (p.Ile2330Metfs)deletionPathogenicrs80359631GRCh37Chr 13, 32921016: 32921020
948BRCA2NM_000059.3(BRCA2): c.7003_7007delTTTCG (p.Phe2335Hisfs)deletionPathogenicrs80359632GRCh37Chr 13, 32921029: 32921033
949BRCA2NM_000059.3(BRCA2): c.7007+1G> CSNVPathogenicrs397507891GRCh37Chr 13, 32921034: 32921034
950BRCA2NM_000059.3(BRCA2): c.7007G> C (p.Arg2336Pro)SNVPathogenicrs28897743GRCh37Chr 13, 32921033: 32921033
951BRCA2NM_000059.3(BRCA2): c.7007G> T (p.Arg2336Leu)SNVLikely pathogenic, Pathogenicrs28897743GRCh37Chr 13, 32921033: 32921033
952BRCA2NM_000059.3(BRCA2): c.7008-2A> GSNVPathogenicrs81002823GRCh37Chr 13, 32928996: 32928996
953BRCA2NM_000059.3(BRCA2): c.7008-2A> TSNVPathogenicrs81002823GRCh37Chr 13, 32928996: 32928996
954BRCA2NM_000059.3(BRCA2): c.7024C> T (p.Gln2342Ter)SNVPathogenicrs80358928GRCh37Chr 13, 32929014: 32929014
955BRCA2NM_000059.3(BRCA2): c.7025_7026delAA (p.Gln2342Argfs)deletionPathogenicrs80359634GRCh37Chr 13, 32929015: 32929016
956BRCA2NM_000059.3(BRCA2): c.702delC (p.Asn235Ilefs)deletionPathogenicrs397507892GRCh37Chr 13, 32905076: 32905076
957BRCA2NM_000059.3(BRCA2): c.7032dupA (p.Gln2345Thrfs)duplicationPathogenicrs80359635GRCh37Chr 13, 32929022: 32929022
958BRCA2NM_000059.3(BRCA2): c.7047delT (p.Phe2349Leufs)deletionPathogenicrs397507893GRCh37Chr 13, 32929037: 32929037
959BRCA2NM_000059.3(BRCA2): c.7060C> T (p.Gln2354Ter)SNVPathogenicrs80358936GRCh37Chr 13, 32929050: 32929050
960BRCA2NM_000059.3(BRCA2): c.7092delA (p.Glu2364Aspfs)deletionPathogenicrs397507896GRCh37Chr 13, 32929082: 32929082
961BRCA2NM_000059.3(BRCA2): c.7110delA (p.Lys2370Asnfs)deletionPathogenicrs397507897GRCh37Chr 13, 32929100: 32929100
962BRCA2NM_000059.3(BRCA2): c.7115C> G (p.Ser2372Ter)SNVPathogenicrs80358943GRCh37Chr 13, 32929105: 32929105
963BRCA2NM_000059.3(BRCA2): c.7151_7152delAA (p.Gln2384Argfs)deletionPathogenicrs276174890GRCh37Chr 13, 32929141: 32929142
964BRCA2NM_000059.3(BRCA2): c.7156dupT (p.Ser2386Phefs)duplicationPathogenicrs80359639GRCh37Chr 13, 32929146: 32929146
965BRCA2NM_000059.3(BRCA2): c.7177dupA (p.Met2393Asnfs)duplicationPathogenicrs397507899GRCh37Chr 13, 32929167: 32929167
966BRCA2NM_000059.3(BRCA2): c.7180A> T (p.Arg2394Ter)SNVPathogenicrs80358946GRCh37Chr 13, 32929170: 32929170
967BRCA2NM_000059.3(BRCA2): c.7183delC (p.His2395Thrfs)deletionPathogenicrs397507900GRCh37Chr 13, 32929173: 32929173
968BRCA2NM_000059.3(BRCA2): c.71delT (p.Leu24Terfs)deletionPathogenicrs397507903GRCh37Chr 13, 32893217: 32893217
969BRCA2NM_000059.3(BRCA2): c.7208_7211delCCAA (p.Thr2403Lysfs)deletionPathogenicrs80359641GRCh37Chr 13, 32929198: 32929201
970BRCA2NM_000059.3(BRCA2): c.7211_7212delAA (p.Lys2404Serfs)deletionPathogenicrs80359642GRCh37Chr 13, 32929201: 32929202
971BRCA2NM_000059.3(BRCA2): c.7226delC (p.Pro2409Leufs)deletionPathogenicrs80359643GRCh37Chr 13, 32929216: 32929216
972BRCA2NM_000059.3(BRCA2): c.7234_7235insG (p.Thr2412Serfs)insertionPathogenicrs397507906GRCh37Chr 13, 32929224: 32929225
973BRCA2NM_000059.3(BRCA2): c.7241C> G (p.Ser2414Ter)SNVPathogenicrs80358951GRCh37Chr 13, 32929231: 32929231
974BRCA2NM_000059.3(BRCA2): c.7251_7252delCA (p.His2417Glnfs)deletionPathogenicrs397507907GRCh37Chr 13, 32929241: 32929242
975BRCA2NM_000059.3(BRCA2): c.7254_7255delAG (p.Arg2418Serfs)deletionPathogenicrs80359644GRCh37Chr 13, 32929244: 32929245
976BRCA2NM_000059.3(BRCA2): c.7261C> T (p.Gln2421Ter)SNVPathogenicrs397507908GRCh37Chr 13, 32929251: 32929251
977BRCA2NM_000059.3(BRCA2): c.729_732delTGAT (p.Asn243Lysfs)deletionPathogenicrs80359645GRCh37Chr 13, 32905103: 32905106
978BRCA2NM_000059.3(BRCA2): c.7303C> T (p.Gln2435Ter)SNVPathogenicrs397507910GRCh37Chr 13, 32929293: 32929293
979BRCA2NM_000059.3(BRCA2): c.7322delG (p.Gly2441Alafs)deletionPathogenicrs397507911GRCh37Chr 13, 32929312: 32929312
980BRCA2NM_000059.3(BRCA2): c.733A> T (p.Arg245Ter)SNVPathogenicrs80358959GRCh37Chr 13, 32905107: 32905107
981BRCA2NM_000059.3(BRCA2): c.7360delA (p.Ile2454Phefs)deletionPathogenicrs80359646GRCh37Chr 13, 32929350: 32929350
982BRCA2NM_000059.3(BRCA2): c.7375A> T (p.Lys2459Ter)SNVPathogenicrs397507913GRCh37Chr 13, 32929365: 32929365
983BRCA2NM_000059.3(BRCA2): c.7379delA (p.Asn2460Thrfs)deletionPathogenicrs397507914GRCh37Chr 13, 32929369: 32929369
984BRCA2NM_000059.3(BRCA2): c.7408_7409delTT (p.Phe2470Hisfs)deletionPathogenicrs397507915GRCh37Chr 13, 32929398: 32929399
985BRCA2NM_000059.3(BRCA2): c.7409dupT (p.Thr2471Hisfs)duplicationPathogenicrs397507916GRCh37Chr 13, 32929399: 32929399
986BRCA2NM_000059.3(BRCA2): c.7436-2A> TSNVPathogenicrs397507917GRCh37Chr 13, 32930563: 32930563
987BRCA2NM_000059.3(BRCA2): c.7443delT (p.Thr2482Glnfs)deletionPathogenicrs80359652GRCh37Chr 13, 32930572: 32930572
988BRCA2NM_000059.3(BRCA2): c.7467dupT (p.Ile2490Tyrfs)duplicationPathogenicrs397507918GRCh37Chr 13, 32930596: 32930596
989BRCA2NM_000059.3(BRCA2): c.7471C> T (p.Gln2491Ter)SNVPathogenicrs80358971GRCh37Chr 13, 32930600: 32930600
990BRCA2NM_000059.3(BRCA2): c.7474_7475delGA (p.Asp2492Tyrfs)deletionPathogenicrs80359653GRCh37Chr 13, 32930603: 32930604
991BRCA2NM_000059.3(BRCA2): c.748delG (p.Val250Terfs)deletionPathogenicrs80359654GRCh37Chr 13, 32905122: 32905122
992BRCA2NM_000059.3(BRCA2): c.7538delC (p.Ala2513Glufs)deletionPathogenicrs397507919GRCh37Chr 13, 32930667: 32930667
993BRCA2NM_000059.3(BRCA2): c.7543delA (p.Thr2515Hisfs)deletionPathogenicrs80359658GRCh37Chr 13, 32930672: 32930672
994BRCA2NM_000059.3(BRCA2): c.7544delC (p.Thr2515Asnfs)deletionPathogenicrs397507920GRCh37Chr 13, 32930673: 32930673
995BRCA2NM_000059.3(BRCA2): c.7558C> T (p.Arg2520Ter)SNVPathogenicrs80358981GRCh37Chr 13, 32930687: 32930687
996BRCA2NM_000059.3(BRCA2): c.755delA (p.Asp252Alafs)deletionPathogenicrs80359661GRCh37Chr 13, 32905129: 32905129
997BRCA2NM_000059.3(BRCA2): c.756_759delCAGT (p.Asp252Glufs)deletionPathogenicrs80359663GRCh37Chr 13, 32905130: 32905133
998BRCA2NM_000059.3(BRCA2): c.7593delT (p.Ser2533Leufs)deletionPathogenicrs80359665GRCh37Chr 13, 32930722: 32930722
999BRCA2NM_000059.3(BRCA2): c.7612A> T (p.Lys2538Ter)SNVPathogenicrs397507921GRCh37Chr 13, 32930741: 32930741
1000BRCA2NM_000059.3(BRCA2): c.7617+1G> ASNVPathogenicrs397507922GRCh37Chr 13, 32930747: 32930747
1001BRCA2NM_000059.3(BRCA2): c.7617+1G> TSNVPathogenicrs397507922GRCh37Chr 13, 32930747: 32930747
1002BRCA2NM_000059.3(BRCA2): c.7617+2T> GSNVPathogenicrs81002843GRCh37Chr 13, 32930748: 32930748
1003BRCA2NM_000059.3(BRCA2): c.7647C> A (p.Cys2549Ter)SNVPathogenicrs80358993GRCh37Chr 13, 32931908: 32931908
1004BRCA2NM_000059.3(BRCA2): c.7655_7658delTTAA (p.Ile2552Thrfs)deletionPathogenicrs80359669GRCh37Chr 13, 32931916: 32931919
1005BRCA2NM_000059.3(BRCA2): c.7671delA (p.Glu2558Serfs)deletionPathogenicrs397507928GRCh37Chr 13, 32931932: 32931932
1006BRCA2NM_000059.3(BRCA2): c.7679_7680delTT (p.Phe2560Serfs)deletionPathogenicrs80359673GRCh37Chr 13, 32931940: 32931941
1007BRCA2NM_000059.3(BRCA2): c.767_768delCA (p.Thr256Lysfs)deletionPathogenicrs80359670GRCh37Chr 13, 32905141: 32905142
1008BRCA2NM_000059.3(BRCA2): c.767delC (p.Thr256Lysfs)deletionPathogenicrs397507930GRCh37Chr 13, 32905141: 32905141
1009BRCA2NM_000059.3(BRCA2): c.7680dupT (p.Gln2561Serfs)duplicationPathogenicrs397507932GRCh37Chr 13, 32931941: 32931941
1010BRCA2NM_000059.3(BRCA2): c.7681C> T (p.Gln2561Ter)SNVPathogenicrs80358994GRCh37Chr 13, 32931942: 32931942
1011BRCA2NM_000059.3(BRCA2): c.7681_7682insT (p.Gln2561Leufs)insertionPathogenicrs397507933GRCh37Chr 13, 32931942: 32931943
1012BRCA2NM_000059.3(BRCA2): c.7689delC (p.His2563Glnfs)deletionPathogenicrs80359674GRCh37Chr 13, 32931950: 32931950
1013BRCA2NM_000059.3(BRCA2): c.7697dupA (p.Asp2566Glufs)duplicationPathogenicrs397507934GRCh37Chr 13, 32931958: 32931958
1014BRCA2NM_000059.3(BRCA2): c.7707delT (p.Lys2570Argfs)deletionPathogenicrs397507935GRCh37Chr 13, 32931968: 32931968
1015BRCA2NM_000059.3(BRCA2): c.7721G> A (p.Trp2574Ter)SNVPathogenicrs80358997GRCh37Chr 13, 32931982: 32931982
1016BRCA2NM_000059.3(BRCA2): c.772C> T (p.Gln258Ter)SNVPathogenicrs80358998GRCh37Chr 13, 32905146: 32905146
1017BRCA2NM_000059.3(BRCA2): c.7738C> T (p.Gln2580Ter)SNVPathogenicrs80358999GRCh37Chr 13, 32931999: 32931999
1018BRCA2NM_000059.3(BRCA2): c.7751delG (p.Gly2584Valfs)deletionPathogenicrs397507936GRCh37Chr 13, 32932012: 32932012
1019BRCA2NM_000059.3(BRCA2): c.7757G> A (p.Trp2586Ter)SNVPathogenicrs80359003GRCh37Chr 13, 32932018: 32932018
1020BRCA2NM_000059.3(BRCA2): c.775delA (p.Arg259Glufs)deletionPathogenicrs75096777GRCh37Chr 13, 32905149: 32905149
1021BRCA2NM_000059.3(BRCA2): c.7761delC (p.Ile2588Tyrfs)deletionPathogenicrs80359678GRCh37Chr 13, 32932022: 32932022
1022BRCA2NM_000059.3(BRCA2): c.7762delA (p.Ile2588Tyrfs)deletionPathogenicrs80359679GRCh37Chr 13, 32932023: 32932023
1023BRCA2NM_000059.3(BRCA2): c.7805+1G> ASNVLikely pathogenic, Pathogenicrs81002809GRCh37Chr 13, 32932067: 32932067
1024BRCA2NM_000059.3(BRCA2): c.7805G> C (p.Arg2602Thr)SNVPathogenicrs397507938GRCh37Chr 13, 32932066: 32932066
1025BRCA2NM_000059.3(BRCA2): c.7806-1G> TSNVPathogenicrs81002860GRCh37Chr 13, 32936659: 32936659
1026BRCA2NM_000059.3(BRCA2): c.7806-2A> GSNVLikely pathogenic, Pathogenicrs81002836GRCh37Chr 13, 32936658: 32936658
1027BRCA2NM_000059.3(BRCA2): c.7806_7807insAG (p.Ala2603Argfs)insertionPathogenicrs80359683GRCh37Chr 13, 32936660: 32936661
1028BRCA2NM_000059.3(BRCA2): c.7846delT (p.Ser2616Leufs)deletionPathogenicrs397507940GRCh37Chr 13, 32936700: 32936700
1029BRCA2NM_000059.3(BRCA2): c.7847delC (p.Ser2616Leufs)deletionPathogenicrs80359685GRCh37Chr 13, 32936701: 32936701
1030BRCA2NM_000059.3(BRCA2): c.7856G> A (p.Trp2619Ter)SNVPathogenicrs397507941GRCh37Chr 13, 32936710: 32936710
1031BRCA2NM_000059.3(BRCA2): c.7863T> A (p.Tyr2621Ter)SNVPathogenicrs276174896GRCh37Chr 13, 32936717: 32936717
1032BRCA2NM_000059.3(BRCA2): c.7872_7873delTA (p.Tyr2624Terfs)deletionPathogenicrs397507942GRCh37Chr 13, 32936726: 32936727
1033BRCA2NM_000059.3(BRCA2): c.7879A> T (p.Ile2627Phe)SNVPathogenicrs80359014GRCh37Chr 13, 32936733: 32936733
1034BRCA2NM_000059.3(BRCA2): c.7884dupA (p.Trp2629Metfs)duplicationPathogenicrs397507943GRCh37Chr 13, 32936738: 32936738
1035BRCA2NM_000059.3(BRCA2): c.7886G> A (p.Trp2629Ter)SNVPathogenicrs80359015GRCh37Chr 13, 32936740: 32936740
1036BRCA2NM_000059.3(BRCA2): c.7908T> A (p.Cys2636Ter)SNVPathogenicrs80359016GRCh37Chr 13, 32936762: 32936762
1037BRCA2NM_000059.3(BRCA2): c.793+1G> ASNVPathogenicrs81002846GRCh37Chr 13, 32905168: 32905168
1038BRCA2NM_000059.3(BRCA2): c.793+1G> TSNVPathogenicrs81002846GRCh37Chr 13, 32905168: 32905168
1039BRCA2NM_000059.3(BRCA2): c.7934delG (p.Arg2645Asnfs)deletionPathogenicrs80359688GRCh37Chr 13, 32936788: 32936788
1040BRCA2NM_000059.3(BRCA2): c.7954delG (p.Val2652Cysfs)deletionPathogenicrs80359689GRCh37Chr 13, 32936808: 32936808
1041BRCA2NM_000059.3(BRCA2): c.7958T> C (p.Leu2653Pro)SNVLikely pathogenic, Pathogenicrs80359022GRCh37Chr 13, 32936812: 32936812
1042BRCA2NM_000059.3(BRCA2): c.7976+1G> ASNVLikely pathogenic, Pathogenicrs81002873GRCh37Chr 13, 32936831: 32936831
1043BRCA2NM_000059.3(BRCA2): c.7976+3_7976+4delAAdeletionPathogenicrs397507946GRCh37Chr 13, 32936833: 32936834
1044BRCA2NM_000059.3(BRCA2): c.7976G> C (p.Arg2659Thr)SNVPathogenicrs80359027GRCh37Chr 13, 32936830: 32936830
1045BRCA2NM_000059.3(BRCA2): c.7977-2delAdeletionPathogenicrs397507947GRCh37Chr 13, 32937314: 32937314
1046BRCA2NM_000059.3(BRCA2): c.7977-7C> GSNVPathogenicrs397507948GRCh37Chr 13, 32937309: 32937309
1047BRCA2NM_000059.3(BRCA2): c.7980T> G (p.Tyr2660Ter)SNVPathogenicrs397507949GRCh37Chr 13, 32937319: 32937319
1048BRCA2NM_000059.3(BRCA2): c.7980_7984delTGATA (p.Asp2661Glyfs)deletionPathogenicrs397507950GRCh37Chr 13, 32937319: 32937323
1049BRCA2NM_000059.3(BRCA2): c.7988A> T (p.Glu2663Val)SNVPathogenicrs80359031GRCh37Chr 13, 32937327: 32937327
1050BRCA2NM_000059.3(BRCA2): c.7996A> T (p.Arg2666Ter)SNVPathogenicrs80359032GRCh37Chr 13, 32937335: 32937335
1051BRCA2NM_000059.3(BRCA2): c.8002A> T (p.Arg2668Ter)SNVPathogenicrs276174900GRCh37Chr 13, 32937341: 32937341
1052BRCA2NM_000059.3(BRCA2): c.8002_8008dupAGAAGAT (p.Ser2670Terfs)duplicationPathogenicrs397507951GRCh37Chr 13, 32937341: 32937347
1053BRCA2NM_000059.3(BRCA2): c.8009C> A (p.Ser2670Ter)SNVPathogenicrs80359035GRCh37Chr 13, 32937348: 32937348
1054BRCA2NM_000059.3(BRCA2): c.8020_8021delAA (p.Lys2674Aspfs)deletionPathogenicrs397507952GRCh37Chr 13, 32937359: 32937360
1055BRCA2NM_000059.3(BRCA2): c.8021delA (p.Lys2674Argfs)deletionPathogenicrs397507953GRCh37Chr 13, 32937360: 32937360
1056BRCA2NM_000059.3(BRCA2): c.8023A> G (p.Ile2675Val)SNVLikely pathogenic, Pathogenicrs397507954GRCh37Chr 13, 32937362: 32937362
1057BRCA2NM_000059.3(BRCA2): c.8029_8030delGA (p.Glu2677Lysfs)deletionPathogenicrs397507955GRCh37Chr 13, 32937368: 32937369
1058BRCA2NM_000059.3(BRCA2): c.8029delG (p.Glu2677Lysfs)deletionPathogenicrs80359691GRCh37Chr 13, 32937368: 32937368
1059BRCA2NM_000059.3(BRCA2): c.8032_8033dupAG (p.Asp2679Glyfs)duplicationPathogenicrs397507956GRCh37Chr 13, 32937371: 32937372
1060BRCA2NM_000059.3(BRCA2): c.8042_8043delCA (p.Thr2681Serfs)deletionPathogenicrs276174901GRCh37Chr 13, 32937381: 32937382
1061BRCA2NM_000059.3(BRCA2): c.8053delA (p.Thr2685Hisfs)deletionPathogenicrs397507958GRCh37Chr 13, 32937392: 32937392
1062BRCA2NM_000059.3(BRCA2): c.8053dupA (p.Thr2685Asnfs)duplicationPathogenicrs397507959GRCh37Chr 13, 32937392: 32937392
1063BRCA2NM_000059.3(BRCA2): c.8058delT (p.Val2687Phefs)deletionPathogenicrs80359692GRCh37Chr 13, 32937397: 32937397
1064BRCA2NM_000059.3(BRCA2): c.8064_8065delCT (p.Val2690Phefs)deletionPathogenicrs397507961GRCh37Chr 13, 32937403: 32937404
1065BRCA2NM_000059.3(BRCA2): c.8067T> A (p.Cys2689Ter)SNVPathogenicrs80359046GRCh37Chr 13, 32937406: 32937406
1066BRCA2NM_000059.3(BRCA2): c.8067delT (p.Cys2689Trpfs)deletionPathogenicrs80359693GRCh37Chr 13, 32937406: 32937406
1067BRCA2NM_000059.3(BRCA2): c.8068_8069delGT (p.Val2690Phefs)deletionPathogenicrs80359694GRCh37Chr 13, 32937407: 32937408
1068BRCA2NM_000059.3(BRCA2): c.8070_8071dupTT (p.Ser2691Phefs)duplicationPathogenicrs397507962GRCh37Chr 13, 32937409: 32937410
1069BRCA2NM_000059.3(BRCA2): c.8072_8073delCT (p.Ser2691Terfs)deletionPathogenicrs397507963GRCh37Chr 13, 32937411: 32937412
1070BRCA2NM_000059.3(BRCA2): c.8084C> G (p.Ser2695Ter)SNVPathogenicrs80359048GRCh37Chr 13, 32937423: 32937423
1071BRCA2NM_000059.3(BRCA2): c.8087T> A (p.Leu2696Ter)SNVPathogenicrs80359050GRCh37Chr 13, 32937426: 32937426
1072BRCA2NM_000059.3(BRCA2): c.8087delT (p.Leu2696Terfs)deletionPathogenicrs80359695GRCh37Chr 13, 32937426: 32937426
1073BRCA2NM_000059.3(BRCA2): c.809C> G (p.Ser270Ter)SNVPathogenicrs276174902GRCh37Chr 13, 32906424: 32906424
1074BRCA2NM_000059.3(BRCA2): c.8130delT (p.Ser2710Argfs)deletionPathogenicrs80359696GRCh37Chr 13, 32937469: 32937469
1075BRCA2NM_000059.3(BRCA2): c.8140C> T (p.Gln2714Ter)SNVPathogenicrs80359058GRCh37Chr 13, 32937479: 32937479
1076BRCA2NM_000059.3(BRCA2): c.8167G> C (p.Asp2723His)SNVPathogenicrs41293511GRCh37Chr 13, 32937506: 32937506
1077BRCA2NM_000059.3(BRCA2): c.8172_8175dupGTGG (p.Tyr2726Valfs)duplicationPathogenicrs397507964GRCh37Chr 13, 32937511: 32937514
1078BRCA2NM_000059.3(BRCA2): c.818C> A (p.Ser273Ter)SNVPathogenicrs80359068GRCh37Chr 13, 32906433: 32906433
1079BRCA2NM_000059.3(BRCA2): c.818C> G (p.Ser273Ter)SNVPathogenicrs80359068GRCh37Chr 13, 32906433: 32906433
1080BRCA2NM_000059.3(BRCA2): c.8195T> G (p.Leu2732Ter)SNVPathogenicrs397507967GRCh37Chr 13, 32937534: 32937534
1081BRCA2NM_000059.3(BRCA2): c.8206dupC (p.Leu2736Profs)duplicationPathogenicrs397507968GRCh37Chr 13, 32937545: 32937545
1082BRCA2NM_000059.3(BRCA2): c.8207delT (p.Leu2736Profs)deletionPathogenicrs397507969GRCh37Chr 13, 32937546: 32937546
1083BRCA2NM_000059.3(BRCA2): c.8234_8237delTGAC (p.Leu2745Glnfs)deletionPathogenicrs80359699GRCh37Chr 13, 32937573: 32937576
1084BRCA2NM_000059.3(BRCA2): c.8234dupT (p.Thr2746Aspfs)duplicationPathogenicrs276174903GRCh37Chr 13, 32937573: 32937573
1085BRCA2NM_000059.3(BRCA2): c.8237_8238delCA (p.Thr2746Serfs)deletionPathogenicrs80359700GRCh37Chr 13, 32937576: 32937577
1086BRCA2NM_000059.3(BRCA2): c.8243G> A (p.Gly2748Asp)SNVPathogenicrs80359071GRCh37Chr 13, 32937582: 32937582
1087BRCA2NM_000059.3(BRCA2): c.8247_8248delGA (p.Lys2750Aspfs)deletionPathogenicrs80359701GRCh37Chr 13, 32937586: 32937587
1088BRCA2NM_000059.3(BRCA2): c.8285delC (p.Pro2762Leufs)deletionPathogenicrs397507972GRCh37Chr 13, 32937624: 32937624
1089BRCA2NM_000059.3(BRCA2): c.8298_8299dupAC (p.Pro2767Hisfs)duplicationPathogenicrs397507973GRCh37Chr 13, 32937637: 32937638
1090BRCA2NM_000059.3(BRCA2): c.8314G> T (p.Glu2772Ter)SNVPathogenicrs397507975GRCh37Chr 13, 32937653: 32937653
1091BRCA2NM_000059.3(BRCA2): c.8327T> G (p.Leu2776Ter)SNVPathogenicrs397507977GRCh37Chr 13, 32937666: 32937666
1092BRCA2NM_000059.3(BRCA2): c.8331+1G> TSNVPathogenicrs81002837GRCh37Chr 13, 32937671: 32937671
1093BRCA2NM_000059.3(BRCA2): c.8340_8343delTAAC (p.Asn2781Valfs)deletionPathogenicrs80359707GRCh37Chr 13, 32944547: 32944550
1094BRCA2NM_000059.3(BRCA2): c.8343delC (p.Asn2781Lysfs)deletionPathogenicrs80359708GRCh37Chr 13, 32944550: 32944550
1095BRCA2NM_000059.3(BRCA2): c.8363G> A (p.Trp2788Ter)SNVPathogenicrs80359080GRCh37Chr 13, 32944570: 32944570
1096BRCA2NM_000059.3(BRCA2): c.8364G> A (p.Trp2788Ter)SNVPathogenicrs397507981GRCh37Chr 13, 32944571: 32944571
1097BRCA2NM_000059.3(BRCA2): c.8377G> A (p.Gly2793Arg)SNVLikely pathogenic, Pathogenicrs80359082GRCh37Chr 13, 32944584: 32944584
1098BRCA2NM_000059.3(BRCA2): c.8394_8396delTAGinsAA (p.Arg2799Asnfs)indelPathogenicrs276174907GRCh37Chr 13, 32944601: 32944603
1099BRCA2NM_000059.3(BRCA2): c.8395delA (p.Arg2799Aspfs)deletionPathogenicrs80359709GRCh37Chr 13, 32944602: 32944602
1100BRCA2NM_000059.3(BRCA2): c.8436dupA (p.Gly2813Argfs)duplicationPathogenicrs80359710GRCh37Chr 13, 32944643: 32944643
1101BRCA2NM_000059.3(BRCA2): c.8451T> A (p.Cys2817Ter)SNVPathogenicrs397507987GRCh37Chr 13, 32944658: 32944658
1102BRCA2NM_000059.3(BRCA2): c.8463dupT (p.Ile2822Tyrfs)duplicationPathogenicrs397507988GRCh37Chr 13, 32944670: 32944670
1103BRCA2NM_000059.3(BRCA2): c.8474delC (p.Ala2825Aspfs)deletionPathogenicrs80359711GRCh37Chr 13, 32944681: 32944681
1104BRCA2NM_000059.3(BRCA2): c.8485C> T (p.Gln2829Ter)SNVPathogenicrs80359099GRCh37Chr 13, 32944692: 32944692
1105BRCA2NM_000059.3(BRCA2): c.8487+1G> ASNVPathogenicrs81002798GRCh37Chr 13, 32944695: 32944695
1106BRCA2NM_000059.3(BRCA2): c.8489G> A (p.Trp2830Ter)SNVPathogenicrs80359101GRCh37Chr 13, 32945094: 32945094
1107BRCA2NM_000059.3(BRCA2): c.8504C> A (p.Ser2835Ter)SNVPathogenicrs80359102GRCh37Chr 13, 32945109: 32945109
1108BRCA2NM_000059.3(BRCA2): c.8505delA (p.Ser2836Leufs)deletionPathogenicrs80359713GRCh37Chr 13, 32945110: 32945110
1109BRCA2NM_000059.3(BRCA2): c.8535_8538delAGAG (p.Glu2846Lysfs)deletionPathogenicrs80359715GRCh37Chr 13, 32945140: 32945143
1110BRCA2NM_000059.3(BRCA2): c.8546delA (p.Lys2849Argfs)deletionPathogenicrs397507991GRCh37Chr 13, 32945151: 32945151
1111BRCA2NM_000059.3(BRCA2): c.8560delT (p.Tyr2854Metfs)deletionPathogenicrs80359717GRCh37Chr 13, 32945165: 32945165
1112BRCA2NM_000059.3(BRCA2): c.8561dupA (p.Tyr2854Terfs)duplicationPathogenicrs397507992GRCh37Chr 13, 32945166: 32945166
1113BRCA2NM_000059.3(BRCA2): c.8572C> T (p.Gln2858Ter)SNVPathogenicrs80359112GRCh37Chr 13, 32945177: 32945177
1114BRCA2NM_000059.3(BRCA2): c.8575C> T (p.Gln2859Ter)SNVPathogenicrs80359115GRCh37Chr 13, 32945180: 32945180
1115BRCA2NM_000059.3(BRCA2): c.8579delA (p.Lys2860Argfs)deletionPathogenicrs397507993GRCh37Chr 13, 32945184: 32945184
1116BRCA2NM_000059.3(BRCA2): c.8594T> A (p.Leu2865Ter)SNVPathogenicrs80359118GRCh37Chr 13, 32945199: 32945199
1117BRCA2NM_000059.3(BRCA2): c.8594dupT (p.Leu2865Phefs)duplicationPathogenicrs80359721GRCh37Chr 13, 32945199: 32945199
1118BRCA2NM_000059.3(BRCA2): c.8620G> T (p.Glu2874Ter)SNVPathogenicrs397507996GRCh37Chr 13, 32945225: 32945225
1119BRCA2NM_000059.3(BRCA2): c.8629G> T (p.Glu2877Ter)SNVPathogenicrs80359121GRCh37Chr 13, 32945234: 32945234
1120BRCA2NM_000059.3(BRCA2): c.8632+1G> ASNVLikely pathogenic, Pathogenicrs397507997GRCh37Chr 13, 32945238: 32945238
1121BRCA2NM_000059.3(BRCA2): c.8633-2A> TSNVPathogenicrs81002886GRCh37Chr 13, 32950805: 32950805
1122BRCA2NM_000059.3(BRCA2): c.8636dupA (p.Asn2879Lysfs)duplicationPathogenicrs80359723GRCh37Chr 13, 32950810: 32950810
1123BRCA2NM_000059.3(BRCA2): c.8673_8674delAA (p.Arg2892Thrfs)deletionPathogenicrs80359724GRCh37Chr 13, 32950847: 32950848
1124BRCA2NM_000059.3(BRCA2): c.8676delA (p.Arg2892Serfs)deletionPathogenicrs80359725GRCh37Chr 13, 32950850: 32950850
1125BRCA2NM_000059.3(BRCA2): c.86_87delTT (p.Leu29Glnfs)deletionPathogenicrs80359722GRCh37Chr 13, 32893232: 32893233
1126BRCA2NM_000059.3(BRCA2): c.8713_8716delTATG (p.Tyr2905Lysfs)deletionPathogenicrs80359726GRCh37Chr 13, 32950887: 32950890
1127BRCA2NM_000059.3(BRCA2): c.8717_8718delAA (p.Glu2906Glyfs)deletionPathogenicrs397508003GRCh37Chr 13, 32950891: 32950892
1128BRCA2NM_000059.3(BRCA2): c.8730delT (p.Asn2910Lysfs)deletionPathogenicrs397508004GRCh37Chr 13, 32950904: 32950904
1129BRCA2NM_000059.3(BRCA2): c.8754+1G> ASNVPathogenicrs397508006GRCh37Chr 13, 32950929: 32950929
1130BRCA2NM_000059.3(BRCA2): c.8754+3G> CSNVLikely pathogenic, Pathogenicrs397508007GRCh37Chr 13, 32950931: 32950931
1131BRCA2NM_000059.3(BRCA2): c.8754G> A (p.Glu2918=)SNVLikely pathogenic, Pathogenicrs80359803GRCh37Chr 13, 32950928: 32950928
1132BRCA2NM_000059.3(BRCA2): c.8756delG (p.Gly2919Valfs)deletionPathogenicrs80359728GRCh37Chr 13, 32953455: 32953455
1133BRCA2NM_000059.3(BRCA2): c.8770G> T (p.Glu2924Ter)SNVPathogenicrs80359133GRCh37Chr 13, 32953469: 32953469
1134BRCA2NM_000059.3(BRCA2): c.8773C> T (p.Gln2925Ter)SNVPathogenicrs80359134GRCh37Chr 13, 32953472: 32953472
1135BRCA2NM_000059.3(BRCA2): c.8789delA (p.Asn2930Ilefs)deletionPathogenicrs80359729GRCh37Chr 13, 32953488: 32953488
1136BRCA2NM_000059.3(BRCA2): c.880G> T (p.Glu294Ter)SNVPathogenicrs397508009GRCh37Chr 13, 32906495: 32906495
1137BRCA2NM_000059.3(BRCA2): c.8817_8820delGAAA (p.Lys2939Asnfs)deletionPathogenicrs397508010GRCh37Chr 13, 32953516: 32953519
1138BRCA2NM_000059.3(BRCA2): c.8821C> T (p.Gln2941Ter)SNVPathogenicrs397508012GRCh37Chr 13, 32953520: 32953520
1139BRCA2NM_000059.3(BRCA2): c.8827_8828insG (p.Gln2943Argfs)insertionPathogenicrs397508013GRCh37Chr 13, 32953526: 32953527
1140BRCA2NM_000059.3(BRCA2): c.8848_8851delAAGG (p.Lys2950Profs)deletionPathogenicrs397508015GRCh37Chr 13, 32953547: 32953550
1141BRCA2NM_000059.3(BRCA2): c.8848delAinsCT (p.Lys2950Leufs)indelPathogenicrs276174912GRCh37Chr 13, 32953547: 32953547
1142BRCA2NM_000059.3(BRCA2): c.8878C> T (p.Gln2960Ter)SNVPathogenicrs80359140GRCh37Chr 13, 32953577: 32953577
1143BRCA2NM_000059.3(BRCA2): c.8912delA (p.Lys2971Serfs)deletionPathogenicrs80359731GRCh37Chr 13, 32953611: 32953611
1144BRCA2NM_000059.3(BRCA2): c.8915delT (p.Leu2972Cysfs)deletionPathogenicrs397508019GRCh37Chr 13, 32953614: 32953614
1145BRCA2NM_000059.3(BRCA2): c.8924delT (p.Val2975Glufs)deletionPathogenicrs397508020GRCh37Chr 13, 32953623: 32953623
1146BRCA2NM_000059.3(BRCA2): c.8933C> A (p.Ser2978Ter)SNVPathogenicrs80359144GRCh37Chr 13, 32953632: 32953632
1147BRCA2NM_000059.3(BRCA2): c.8946delA (p.Asp2983Ilefs)deletionPathogenicrs397508021GRCh37Chr 13, 32953645: 32953645
1148BRCA2NM_000059.3(BRCA2): c.8953+1G> ASNVPathogenicrs81002882GRCh37Chr 13, 32953653: 32953653
1149BRCA2NM_000059.3(BRCA2): c.8954-3C> GSNVPathogenicrs81002844GRCh37Chr 13, 32953884: 32953884
1150BRCA2NM_000059.3(BRCA2): c.8961_8964delGAGT (p.Ser2988Phefs)deletionPathogenicrs80359734GRCh37Chr 13, 32953894: 32953897
1151BRCA2NM_000059.3(BRCA2): c.8970G> A (p.Trp2990Ter)SNVPathogenicrs80359149GRCh37Chr 13, 32953903: 32953903
1152BRCA2NM_000059.3(BRCA2): c.8978C> A (p.Ser2993Ter)SNVPathogenicrs397508025GRCh37Chr 13, 32953911: 32953911
1153BRCA2NM_000059.3(BRCA2): c.8978_8991delCATCAGATTTATAT (p.Ser2993Phefs)deletionPathogenicrs397508026GRCh37Chr 13, 32953911: 32953924
1154BRCA2NM_000059.3(BRCA2): c.897_898insC (p.Val300Argfs)insertionPathogenicrs80359735GRCh37Chr 13, 32906512: 32906513
1155BRCA2NM_000059.3(BRCA2): c.8980_8983delTCAG (p.Ser2994Ilefs)deletionPathogenicrs80359737GRCh37Chr 13, 32953913: 32953916
1156BRCA2NM_000059.3(BRCA2): c.8988_8990delATAinsTT (p.Leu2996Phefs)indelPathogenicrs397508027GRCh37Chr 13, 32953921: 32953923
1157BRCA2NM_000059.3(BRCA2): c.8991T> G (p.Tyr2997Ter)SNVPathogenicrs397508028GRCh37Chr 13, 32953924: 32953924
1158BRCA2NM_000059.3(BRCA2): c.8999T> A (p.Leu3000Ter)SNVPathogenicrs80359151GRCh37Chr 13, 32953932: 32953932
1159BRCA2NM_000059.3(BRCA2): c.9016_9017delTA (p.Tyr3006Glnfs)deletionPathogenicrs80359739GRCh37Chr 13, 32953949: 32953950
1160BRCA2NM_000059.3(BRCA2): c.9018C> A (p.Tyr3006Ter)SNVPathogenicrs80359154GRCh37Chr 13, 32953951: 32953951
1161BRCA2NM_000059.3(BRCA2): c.901dupG (p.Asp301Glyfs)duplicationPathogenicrs80359738GRCh37Chr 13, 32906516: 32906516
1162BRCA2NM_000059.3(BRCA2): c.9027delT (p.His3010Ilefs)deletionPathogenicrs80359742GRCh37Chr 13, 32953960: 32953960
1163BRCA2NM_000059.3(BRCA2): c.9041C> A (p.Ser3014Ter)SNVPathogenicrs80359156GRCh37Chr 13, 32953974: 32953974
1164BRCA2NM_000059.3(BRCA2): c.9054_9055delTA (p.Ser3018Argfs)deletionPathogenicrs80359743GRCh37Chr 13, 32953987: 32953988
1165BRCA2NM_000059.3(BRCA2): c.9057delA (p.Lys3019Asnfs)deletionPathogenicrs80359744GRCh37Chr 13, 32953990: 32953990
1166BRCA2NM_000059.3(BRCA2): c.9063_9078del16 (p.Glu3021Aspfs)deletionPathogenicrs397508032GRCh37Chr 13, 32953996: 32954011
1167BRCA2NM_000059.3(BRCA2): c.9069_9076delTAACATAC (p.Asn3024Valfs)deletionPathogenicrs80359746GRCh37Chr 13, 32954002: 32954009
1168BRCA2NM_000059.3(BRCA2): c.906delC (p.Ser303Leufs)deletionPathogenicrs397508033GRCh37Chr 13, 32906521: 32906521
1169BRCA2NM_000059.3(BRCA2): c.9074_9075delTA (p.Ile3025Thrfs)deletionPathogenicrs397508034GRCh37Chr 13, 32954007: 32954008
1170BRCA2NM_000059.3(BRCA2): c.9098_9099insA (p.Gln3034Serfs)insertionPathogenicrs80359747GRCh37Chr 13, 32954031: 32954032
1171BRCA2NM_000059.3(BRCA2): c.9099_9100delTC (p.Gln3034Valfs)deletionPathogenicrs80359748GRCh37Chr 13, 32954032: 32954033
1172BRCA2NM_000059.3(BRCA2): c.9100C> T (p.Gln3034Ter)SNVPathogenicrs80359163GRCh37Chr 13, 32954033: 32954033
1173BRCA2NM_000059.3(BRCA2): c.9109C> T (p.Gln3037Ter)SNVPathogenicrs397508037GRCh37Chr 13, 32954042: 32954042
1174BRCA2NM_000059.3(BRCA2): c.9117+1G> ASNVPathogenicrs81002802GRCh37Chr 13, 32954051: 32954051
1175BRCA2NM_000059.3(BRCA2): c.9117+1G> TSNVPathogenicrs81002802GRCh37Chr 13, 32954051: 32954051
1176BRCA2NM_000059.3(BRCA2): c.9118-2A> GSNVPathogenicrs81002862GRCh37Chr 13, 32954142: 32954142
1177BRCA2NM_000059.3(BRCA2): c.9148C> T (p.Gln3050Ter)SNVPathogenicrs80359170GRCh37Chr 13, 32954174: 32954174
1178BRCA2NM_000059.3(BRCA2): c.9154C> T (p.Arg3052Trp)SNVPathogenicrs45580035GRCh37Chr 13, 32954180: 32954180
1179BRCA2NM_000059.3(BRCA2): c.9157delG (p.Glu3053Serfs)deletionPathogenicrs80359750GRCh37Chr 13, 32954183: 32954183
1180BRCA2NM_000059.3(BRCA2): c.9177delA (p.Lys3059Asnfs)deletionPathogenicrs80359751GRCh37Chr 13, 32954203: 32954203
1181BRCA2NM_000059.3(BRCA2): c.9182T> A (p.Leu3061Ter)SNVPathogenicrs80359175GRCh37Chr 13, 32954208: 32954208
1182BRCA2NM_000059.3(BRCA2): c.918dupT (p.Ser307Terfs)duplicationPathogenicrs397508039GRCh37Chr 13, 32906533: 32906533
1183BRCA2NM_000059.3(BRCA2): c.9207T> A (p.Cys3069Ter)SNVPathogenicrs80359183GRCh37Chr 13, 32954233: 32954233
1184BRCA2NM_000059.3(BRCA2): c.9227delG (p.Gly3076Aspfs)deletionPathogenicrs397508040GRCh37Chr 13, 32954253: 32954253
1185BRCA2NM_000059.3(BRCA2): c.9247A> T (p.Lys3083Ter)SNVPathogenicrs80359190GRCh37Chr 13, 32954273: 32954273
1186BRCA2NM_000059.3(BRCA2): c.9253delA (p.Thr3085Glnfs)deletionPathogenicrs397508041GRCh37Chr 13, 32954279: 32954279
1187BRCA2NM_000059.3(BRCA2): c.9256+1G> ASNVPathogenicrs81002883GRCh37Chr 13, 32954283: 32954283
1188BRCA2NM_000059.3(BRCA2): c.9256G> T (p.Gly3086Ter)SNVPathogenicrs80359192GRCh37Chr 13, 32954282: 32954282
1189BRCA2NM_000059.3(BRCA2): c.9257-1G> CSNVLikely pathogenic, Pathogenicrs81002889GRCh37Chr 13, 32968825: 32968825
1190BRCA2NM_000059.3(BRCA2): c.9269dupT (p.Val3091Argfs)duplicationPathogenicrs80359753GRCh37Chr 13, 32968838: 32968838
1191BRCA2NM_000059.3(BRCA2): c.9275_9276delAT (p.Tyr3092Phefs)deletionPathogenicrs397508043GRCh37Chr 13, 32968844: 32968845
1192BRCA2NM_000059.3(BRCA2): c.9275_9278delATTT (p.Tyr3092Cysfs)deletionPathogenicrs80359754GRCh37Chr 13, 32968844: 32968847
1193BRCA2NM_000059.3(BRCA2): c.9276T> G (p.Tyr3092Ter)SNVPathogenicrs80359197GRCh37Chr 13, 32968845: 32968845
1194BRCA2NM_000059.3(BRCA2): c.9285C> G (p.Asp3095Glu)SNVLikely pathogenic, Pathogenicrs80359198GRCh37Chr 13, 32968854: 32968854
1195BRCA2NM_000059.3(BRCA2): c.9286G> T (p.Glu3096Ter)SNVPathogenicrs80359199GRCh37Chr 13, 32968855: 32968855
1196BRCA2NM_000059.3(BRCA2): c.92G> A (p.Trp31Ter)SNVPathogenicrs397508045GRCh37Chr 13, 32893238: 32893238
1197BRCA2NM_000059.3(BRCA2): c.930_931delAT (p.Cys311Phefs)deletionPathogenicrs80359755GRCh37Chr 13, 32906545: 32906546
1198BRCA2NM_000059.3(BRCA2): c.9310_9311delAA (p.Lys3104Valfs)deletionPathogenicrs80359756GRCh37Chr 13, 32968879: 32968880
1199BRCA2NM_000059.3(BRCA2): c.9317G> A (p.Trp3106Ter)SNVPathogenicrs80359205GRCh37Chr 13, 32968886: 32968886
1200BRCA2NM_000059.3(BRCA2): c.9331G> T (p.Glu3111Ter)SNVPathogenicrs397508047GRCh37Chr 13, 32968900: 32968900
1201BRCA2NM_000059.3(BRCA2): c.9356T> G (p.Leu3119Ter)SNVPathogenicrs80359207GRCh37Chr 13, 32968925: 32968925
1202BRCA2NM_000059.3(BRCA2): c.9360delT (p.Ile3120Metfs)deletionPathogenicrs80359757GRCh37Chr 13, 32968929: 32968929
1203BRCA2NM_000059.3(BRCA2): c.9376C> T (p.Gln3126Ter)SNVPathogenicrs80359210GRCh37Chr 13, 32968945: 32968945
1204BRCA2NM_000059.3(BRCA2): c.9382C> T (p.Arg3128Ter)SNVPathogenicrs80359212GRCh37Chr 13, 32968951: 32968951
1205BRCA2NM_000059.3(BRCA2): c.9393delC (p.Lys3132Asnfs)deletionPathogenicrs397508049GRCh37Chr 13, 32968962: 32968962
1206BRCA2NM_000059.3(BRCA2): c.93G> A (p.Trp31Ter)SNVPathogenicrs80359214GRCh37Chr 13, 32893239: 32893239
1207BRCA2NM_000059.3(BRCA2): c.9403delC (p.Leu3135Phefs)deletionPathogenicrs80359760GRCh37Chr 13, 32968972: 32968972
1208BRCA2NM_000059.3(BRCA2): c.9408delT (p.Thr3137Leufs)deletionPathogenicrs80359761GRCh37Chr 13, 32968977: 32968977
1209BRCA2NM_000059.3(BRCA2): c.9430delT (p.Ser3144Leufs)deletionPathogenicrs397508050GRCh37Chr 13, 32968999: 32968999
1210BRCA2NM_000059.3(BRCA2): c.9455_9456delAG (p.Glu3152Glyfs)deletionPathogenicrs80359764GRCh37Chr 13, 32969024: 32969025
1211BRCA2NM_000059.3(BRCA2): c.9458delG (p.Gly3153Alafs)deletionPathogenicrs397508052GRCh37Chr 13, 32969027: 32969027
1212BRCA2NM_000059.3(BRCA2): c.9463_9467delTTTCAinsGAATGATC (p.Phe3155_Ile3418delinsGlu)indelPathogenicrs397508053GRCh37Chr 13, 32969032: 32969036
1213BRCA2NM_000059.3(BRCA2): c.9466C> T (p.Gln3156Ter)SNVPathogenicrs276174925GRCh37Chr 13, 32969035: 32969035
1214BRCA2NM_000059.3(BRCA2): c.9466delC (p.Gln3156Lysfs)deletionPathogenicrs80359766GRCh37Chr 13, 32969035: 32969035
1215BRCA2NM_000059.3(BRCA2): c.9474delA (p.Phe3159Serfs)deletionPathogenicrs397508054GRCh37Chr 13, 32969043: 32969043
1216BRCA2NM_000059.3(BRCA2): c.9481A> T (p.Lys3161Ter)SNVPathogenicrs80359222GRCh37Chr 13, 32969050: 32969050
1217BRCA2NM_000059.3(BRCA2): c.9498delT (p.Glu3167Argfs)deletionPathogenicrs397508055GRCh37Chr 13, 32969067: 32969067
1218BRCA2NM_000059.3(BRCA2): c.9501+1G> ASNVPathogenicrs397508058GRCh37Chr 13, 32969071: 32969071
1219BRCA2NM_000059.3(BRCA2): c.9501G> A (p.Glu3167=)SNVPathogenicrs80359808GRCh37Chr 13, 32969070: 32969070
1220BRCA2NM_000059.3(BRCA2): c.9502-2A> CSNVLikely pathogenic, Pathogenicrs81002868GRCh37Chr 13, 32971033: 32971033
1221BRCA2NM_000059.3(BRCA2): c.9507delT (p.Ile3169Metfs)deletionPathogenicrs80359767GRCh37Chr 13, 32971040: 32971040
1222BRCA2NM_000059.3(BRCA2): c.9513_9516delACTT (p.Leu3172Alafs)deletionPathogenicrs80359769GRCh37Chr 13, 32971046: 32971049
1223BRCA2NM_000059.3(BRCA2): c.952A> T (p.Lys318Ter)SNVPathogenicrs397508060GRCh37Chr 13, 32906567: 32906567
1224BRCA2NM_000059.3(BRCA2): c.9537dupG (p.Leu3180Alafs)duplicationPathogenicrs397508061GRCh37Chr 13, 32971070: 32971070
1225BRCA2NM_000059.3(BRCA2): c.9541_9554delATGCATATACTGCA (p.Met3181Cysfs)deletionPathogenicrs397508062GRCh37Chr 13, 32971074: 32971087
1226BRCA2NM_000059.3(BRCA2): c.956dupA (p.Asn319Lysfs)duplicationPathogenicrs80359770GRCh37Chr 13, 32906571: 32906571
1227BRCA2NM_000059.3(BRCA2): c.9572G> A (p.Trp3191Ter)SNVPathogenicrs397508063GRCh37Chr 13, 32971105: 32971105
1228BRCA2NM_000059.3(BRCA2): c.961C> T (p.Gln321Ter)SNVPathogenicrs80359234GRCh37Chr 13, 32906576: 32906576
1229BRCA2NM_000059.3(BRCA2): c.9649-2A> GSNVPathogenicrs81002895GRCh37Chr 13, 32972297: 32972297
1230BRCA2NM_000059.3(BRCA2): c.9666delT (p.Cys3222Trpfs)deletionPathogenicrs80359772GRCh37Chr 13, 32972316: 32972316
1231BRCA2NM_000059.3(BRCA2): c.9676delT (p.Tyr3226Ilefs)deletionPathogenicrs80359774GRCh37Chr 13, 32972326: 32972326
1232BRCA2NM_000059.3(BRCA2): c.97G> T (p.Glu33Ter)SNVPathogenicrs397508065GRCh37Chr 13, 32893243: 32893243
1233BRCA2NM_000059.3(BRCA2): c.9868delG (p.Val3290Phefs)deletionPathogenicrs80359776GRCh37Chr 13, 32972518: 32972518
1234BRCA2NM_000059.3(BRCA2): c.9883C> T (p.Gln3295Ter)SNVPathogenicrs80359247GRCh37Chr 13, 32972533: 32972533
1235BRCA2NM_000059.3(BRCA2): c.9924C> G (p.Tyr3308Ter)SNVPathogenicrs4987049GRCh37Chr 13, 32972574: 32972574
1236BRCA2NM_000059.3(BRCA2): c.9925G> T (p.Glu3309Ter)SNVPathogenicrs80359251GRCh37Chr 13, 32972575: 32972575
1237BRCA2NM_000059.3(BRCA2): c.993_994delAA (p.Lys331Asnfs)deletionPathogenicrs80359777GRCh37Chr 13, 32906608: 32906609
1238BRCA2NM_000059.3(BRCA2): c.994delA (p.Ile332Phefs)deletionPathogenicrs80359778GRCh37Chr 13, 32906609: 32906609
1239BRCA2NM_000059.3(BRCA2): c.994dupA (p.Ile332Asnfs)duplicationPathogenicrs397508066GRCh37Chr 13, 32906609: 32906609
1240BRCA1NM_007294.3(BRCA1): c.2059C> T (p.Gln687Ter)SNVPathogenicrs273898674GRCh37Chr 17, 41245489: 41245489
1241BRCA1NM_007294.3(BRCA1): c.213-1G> ASNVPathogenicrs80358146GRCh37Chr 17, 41256974: 41256974
1242BRCA1NM_007294.3(BRCA1): c.2572C> T (p.Gln858Ter)SNVPathogenicrs397508983GRCh37Chr 17, 41244976: 41244976
1243BRCA1NM_007294.3(BRCA1): c.2722G> T (p.Glu908Ter)SNVPathogenicrs80356978GRCh37Chr 17, 41244826: 41244826
1244BRCA1NM_007294.3(BRCA1): c.3661G> T (p.Glu1221Ter)SNVPathogenicrs80357310GRCh37Chr 17, 41243887: 41243887
1245BRCA1NM_007294.3(BRCA1): c.4801A> T (p.Lys1601Ter)SNVPathogenicrs80357303GRCh37Chr 17, 41223130: 41223130
1246BRCA1NM_007294.3(BRCA1): c.5470_5477delATTGGGCA (p.Ile1824Aspfs)deletionPathogenicrs80357973GRCh37Chr 17, 41197810: 41197817
1247BRCA1NM_007294.3(BRCA1): c.5503C> T (p.Arg1835Ter)SNVPathogenicrs41293465GRCh37Chr 17, 41197784: 41197784
1248BRCA1NM_007294.3(BRCA1): c.981_982delAT (p.Cys328Terfs)deletionPathogenicrs80357772GRCh37Chr 17, 41246566: 41246567
1249BRCA2NM_000059.3(BRCA2): c.1321dupA (p.Thr441Asnfs)duplicationPathogenicrs80359281GRCh37Chr 13, 32906936: 32906936
1250BRCA2NM_000059.3(BRCA2): c.1325C> A (p.Ser442Ter)SNVPathogenicrs80358421GRCh37Chr 13, 32906940: 32906940
1251BRCA2NM_000059.3(BRCA2): c.2834_2835delAA (p.Lys945Argfs)deletionPathogenicrs80359356GRCh37Chr 13, 32911326: 32911327
1252BRCA2NM_000059.3(BRCA2): c.2835delA (p.Asp946Ilefs)deletionPathogenicrs397509342GRCh37Chr 13, 32911327: 32911327
1253CHEK2CHEK2, 1-BP DEL, 1100CdeletionPathogenic, risk factorChr na, -1: -1
1254CHEK2NM_007194.3(CHEK2): c.1283C> T (p.Ser428Phe)SNVPathogenic, risk factorrs137853011GRCh37Chr 22, 29091207: 29091207
1255APCNM_000038.5(APC): c.3920T> A (p.Ile1307Lys)SNVPathogenic, risk factorrs1801155GRCh37Chr 5, 112175211: 112175211
1256BRCA2NM_000059.3(BRCA2): c.3075_3076delGAinsTT (p.Lys1025_Lys1026delinsAsnTer)indelPathogenicrs587779362GRCh37Chr 13, 32911567: 32911568
1257BRCA2NM_000059.3(BRCA2): c.5195delT (p.Leu1732Profs)deletionPathogenicrs587779363GRCh37Chr 13, 32913687: 32913687
1258BRCA2NM_000059.3(BRCA2): c.5364dupC (p.Lys1789Glnfs)duplicationPathogenicrs587779364GRCh37Chr 13, 32913856: 32913856
1259BRCA2NM_000059.3(BRCA2): c.5692delG (p.Asp1898Metfs)deletionPathogenicrs398122539GRCh37Chr 13, 32914184: 32914184
1260BRCA2NM_000059.3(BRCA2): c.635_636delGA (p.Arg212Lysfs)deletionPathogenicrs80359575GRCh37Chr 13, 32903583: 32903584
1261BRCA2NM_000059.3(BRCA2): c.7556dupC (p.Arg2520Serfs)duplicationPathogenicrs80359660GRCh37Chr 13, 32930685: 32930685
1262BRCA2NM_000059.3(BRCA2): c.8308delG (p.Ala2770Profs)deletionPathogenicrs398122601GRCh37Chr 13, 32937647: 32937647
1263BRCA2NM_000059.3(BRCA2): c.8581A> T (p.Arg2861Ter)SNVPathogenicrs398122608GRCh37Chr 13, 32945186: 32945186
1264BRCA2NM_000059.3(BRCA2): c.9127G> T (p.Glu3043Ter)SNVPathogenicrs398122610GRCh37Chr 13, 32954153: 32954153
1265BRCA2NM_000059.3(BRCA2): c.9252_9255delAACAinsTT (p.Lys3084Asnfs)indelPathogenicrs276174918GRCh37Chr 13, 32954278: 32954281
1266BRCA2NM_000059.3(BRCA2): c.9808delG (p.Ala3270Profs)deletionPathogenicrs398122622GRCh37Chr 13, 32972458: 32972458
1267BRCA2NM_000059.3(BRCA2): c.8839G> T (p.Glu2947Ter)SNVPathogenicrs398122715GRCh37Chr 13, 32953538: 32953538
1268BRCA2NM_000059.3(BRCA2): c.1642C> T (p.Gln548Ter)SNVPathogenicrs398122729GRCh37Chr 13, 32907257: 32907257
1269BRCA2NM_000059.3(BRCA2): c.2330dupA (p.Asp777Glufs)duplicationPathogenicrs80359328GRCh37Chr 13, 32910822: 32910822
1270BRCA2NM_000059.3(BRCA2): c.2692_2696delAGGAA (p.Arg898Terfs)deletionPathogenicrs398122752GRCh37Chr 13, 32911184: 32911188
1271BRCA2NM_000059.3(BRCA2): c.2808delA (p.Lys936Asnfs)deletionPathogenicrs398122753GRCh37Chr 13, 32911300: 32911300
1272BRCA2NM_000059.3(BRCA2): c.3708dupA (p.Ala1237Serfs)duplicationPathogenicrs398122769GRCh37Chr 13, 32912200: 32912200
1273BRCA2NM_000059.3(BRCA2): c.4000_4001delTT (p.Leu1334Argfs)deletionPathogenicrs398122775GRCh37Chr 13, 32912492: 32912493
1274BRCA2NM_000059.3(BRCA2): c.426-2A> GSNVPathogenicrs398122779GRCh37Chr 13, 32900236: 32900236
1275BRCA2NM_000059.3(BRCA2): c.4325C> G (p.Ser1442Ter)SNVPathogenicrs80358670GRCh37Chr 13, 32912817: 32912817
1276BRCA2NM_000059.3(BRCA2): c.4552delG (p.Glu1518Asnfs)deletionPathogenicrs398122783GRCh37Chr 13, 32913044: 32913044
1277BRCA2NM_000059.3(BRCA2): c.4964dupA (p.Tyr1655Terfs)duplicationPathogenicrs398122789GRCh37Chr 13, 32913456: 32913456
1278BRCA2NM_000059.3(BRCA2): c.5054C> A (p.Ser1685Ter)SNVPathogenicrs398122791GRCh37Chr 13, 32913546: 32913546
1279BRCA2NM_000059.3(BRCA2): c.512dupT (p.Lys172Glufs)duplicationPathogenicrs398122793GRCh37Chr 13, 32900415: 32900415
1280BRCA2NM_000059.3(BRCA2): c.6275_6276delTT (p.Leu2092Profs)deletionPathogenicrs11571658GRCh37Chr 13, 32914767: 32914768
1281BRCA2NM_000059.3(BRCA2): c.6591_6592delTG (p.Glu2198Asnfs)deletionPathogenicrs80359605GRCh37Chr 13, 32915083: 32915084
1282BRCA2NM_000059.3(BRCA2): c.5722_5723delCT (p.Leu1908Argfs)deletionPathogenicrs80359530GRCh37Chr 13, 32914214: 32914215
1283BRCA2NM_000059.3(BRCA2): c.2808_2811del4 (p.Ala938Profs)deletionPathogenicrs80359351GRCh37Chr 13, 32911300: 32911303
1284BRCA2NM_000059.3(BRCA2): c.5946delT (p.Ser1982Argfs)deletionPathogenicrs80359550GRCh37Chr 13, 32914438: 32914438
1285BRCA2NM_000059.3(BRCA2): c.771_775delTCAAA (p.Asn257Lysfs)deletionPathogenicrs80359671GRCh37Chr 13, 32905145: 32905149
1286BRCA2NM_000059.3(BRCA2): c.8537_8538delAG (p.Glu2846Glyfs)deletionPathogenicrs80359714GRCh37Chr 13, 32945142: 32945143
1287BRCA2NM_000059.3(BRCA2): c.8165C> G (p.Thr2722Arg)SNVPathogenicrs80359062GRCh37Chr 13, 32937504: 32937504
1288BRCA2NM_000059.3(BRCA2): c.658_659delGT (p.Val220Ilefs)deletionPathogenicrs80359604GRCh37Chr 13, 32903606: 32903607
1289BRCA2NM_000059.3(BRCA2): c.8219T> A (p.Leu2740Ter)SNVPathogenicrs80359070GRCh37Chr 13, 32937558: 32937558
1290BRCA2NM_000059.3(BRCA2): c.4648G> T (p.Glu1550Ter)SNVPathogenicrs80358695GRCh37Chr 13, 32913140: 32913140
1291BRCA2NM_000059.3(BRCA2): c.5645C> G (p.Ser1882Ter)SNVPathogenicrs80358785GRCh37Chr 13, 32914137: 32914137
1292BRCA2NM_000059.3(BRCA2): c.9196C> T (p.Gln3066Ter)SNVPathogenicrs80359180GRCh37Chr 13, 32954222: 32954222
1293BRCA2NM_000059.3(BRCA2): c.631+1G> ASNVPathogenicrs81002897GRCh37Chr 13, 32900751: 32900751
1294BRCA2NM_000059.3(BRCA2): c.631+2T> GSNVPathogenicrs81002899GRCh37Chr 13, 32900752: 32900752
1295BRCA2NM_000059.3(BRCA2): c.3779delT (p.Leu1260Tyrfs)deletionPathogenicrs431825312GRCh37Chr 13, 32912271: 32912271
1296BRCA2NM_000059.3(BRCA2): c.4936_4937delGA (p.Glu1646Asnfs)deletionPathogenicrs431825323GRCh37Chr 13, 32913428: 32913429
1297BRCA2NM_000059.3(BRCA2): c.4976_4977insG (p.Tyr1661Leufs)insertionPathogenicrs431825325GRCh37Chr 13, 32913468: 32913469
1298BRCA2NM_000059.3(BRCA2): c.5578A> T (p.Lys1860Ter)SNVPathogenicrs431825332GRCh37Chr 13, 32914070: 32914070
1299BRCA2NM_000059.3(BRCA2): c.6211delA (p.Ser2071Valfs)deletionPathogenicrs431825338GRCh37Chr 13, 32914703: 32914703
1300BRCA2NM_000059.3(BRCA2): c.6397dupT (p.Ser2133Phefs)duplicationPathogenicrs431825342GRCh37Chr 13, 32914889: 32914889
1301BRCA2NM_000059.3(BRCA2): c.6959T> A (p.Leu2320Ter)SNVPathogenicrs80358923GRCh37Chr 13, 32920985: 32920985
1302BRCA2NM_000059.3(BRCA2): c.7985C> A (p.Thr2662Lys)SNVPathogenicrs431825362GRCh37Chr 13, 32937324: 32937324
1303BRCA2NM_000059.3(BRCA2): c.8463delT (p.Ile2822Phefs)deletionPathogenicrs431825365GRCh37Chr 13, 32944670: 32944670
1304BRCA2NM_000059.3(BRCA2): c.8837T> A (p.Leu2946Ter)SNVPathogenicrs431825371GRCh37Chr 13, 32953536: 32953536
1305BRCA2NM_000059.3(BRCA2): c.9945delA (p.Glu3316Asnfs)deletionPathogenicrs431825381GRCh37Chr 13, 32972595: 32972595

Expression for genes affiliated with Brca2 Hereditary Breast and Ovarian Cancer Syndrome

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Search GEO for disease gene expression data for Brca2 Hereditary Breast and Ovarian Cancer Syndrome.

Pathways for genes affiliated with Brca2 Hereditary Breast and Ovarian Cancer Syndrome

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Pathways related to Brca2 Hereditary Breast and Ovarian Cancer Syndrome according to GeneCards Suite gene sharing:

(show all 29)
idSuper pathwaysScoreTop Affiliating Genes
19.6BRCA2, CHEK2
29.5ATM, BRCA1
39.5ATM, BRCA1
49.5ATM, BRCA1
59.5ATM, BRCA1
69.4ATM, CHEK2
7
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9.4ATM, CHEK2
8
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9.4ATM, CHEK2
9
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9.4ATM, CHEK2
10
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9.2ATM, BRCA1, BRCA2
11
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9.2ATM, BRCA1, BRCA2
12
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9.0ATM, BRCA1, CHEK2
13
Show member pathways
9.0ATM, BRCA1, CHEK2
149.0ATM, BRCA1, CHEK2
15
Show member pathways
9.0ATM, BRCA1, CHEK2
168.7APC, ATM, BRCA1
17
Show member pathways
8.6ATM, BRCA1, BRCA2, CHEK2
188.6ATM, BRCA1, BRCA2, CHEK2
19
Show member pathways
8.6ATM, BRCA1, BRCA2, CHEK2
20
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8.6BRCA1, BRCA2, BRIP1, PALB2
218.6APC, ATM, CHEK2
22
Show member pathways
8.4ATM, BRCA1, BRIP1, CHEK2
238.4ATM, BRCA1, BRIP1, CHEK2
24
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8.4ATM, BRCA1, BRIP1, CHEK2
25
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8.1ATM, BRCA1, BRCA2, BRIP1, PALB2
26
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8.0ATM, BRCA1, BRCA2, BRIP1, CHEK2
27
Show member pathways
8.0ATM, BRCA1, BRCA2, BRIP1, CHEK2
287.8APC, ATM, BRCA1, BRCA2, CHEK2
29
Show member pathways
7.6ATM, BRCA1, BRCA2, BRIP1, CHEK2, PALB2

GO Terms for genes affiliated with Brca2 Hereditary Breast and Ovarian Cancer Syndrome

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Cellular components related to Brca2 Hereditary Breast and Ovarian Cancer Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1chromosome, telomeric regionGO:00007819.7ATM, CHEK2
2nucleoplasmGO:00056546.7APC, ATM, BRCA1, BRCA2, BRIP1, CHEK2

Biological processes related to Brca2 Hereditary Breast and Ovarian Cancer Syndrome according to GeneCards Suite gene sharing:

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1chordate embryonic developmentGO:004300910.2BRCA1, BRCA2
2DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:000697810.2BRCA1, BRCA2
3inner cell mass cell proliferationGO:000183310.2BRCA2, PALB2
4double-strand break repair via nonhomologous end joiningGO:00063039.9ATM, BRCA1
5response to gamma radiationGO:00103329.9BRCA2, CHEK2
6DNA damage induced protein phosphorylationGO:00069759.9ATM, CHEK2
7DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrestGO:00069779.9ATM, CHEK2
8replicative senescenceGO:00903999.9ATM, CHEK2
9DNA double-strand break processingGO:00007299.8ATM, BRCA1
10chromosome breakageGO:00310529.8BRCA1, BRCA2, PALB2
11mitotic spindle assembly checkpointGO:00070949.7APC, ATM
12somitogenesisGO:00017569.6ATM, PALB2
13DNA damage checkpointGO:00000779.4BRIP1, CHEK2
14double-strand break repair via homologous recombinationGO:00007249.3ATM, BRCA1, BRCA2, PALB2
15response to ionizing radiationGO:00102129.2ATM, BRCA1
16brain developmentGO:00074209.2ATM, BRCA1, BRCA2
17DNA replicationGO:00062609.1ATM, BRCA1, BRIP1
18intrinsic apoptotic signaling pathway in response to DNA damageGO:00086309.1ATM, BRCA1, BRCA2, CHEK2
19double-strand break repairGO:00063028.9BRCA1, BRCA2, BRIP1, CHEK2
20regulation of signal transduction by p53 class mediatorGO:19017968.6ATM, BRCA1, BRIP1, CHEK2
21DNA synthesis involved in DNA repairGO:00007318.4ATM, BRCA1, BRCA2, BRIP1, PALB2
22strand displacementGO:00007328.3ATM, BRCA1, BRCA2, BRIP1, PALB2
23cellular response to DNA damage stimulusGO:00069748.1APC, ATM, BRCA1, BRCA2, CHEK2

Sources for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet