MCID: BRC084
MIFTS: 43

Brca1 Hereditary Breast and Ovarian Cancer Syndrome malady

Categories: Genetic diseases, Rare diseases, Cancer diseases

Aliases & Classifications for Brca1 Hereditary Breast and Ovarian Cancer Syndrome

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Aliases & Descriptions for Brca1 Hereditary Breast and Ovarian Cancer Syndrome:

Name: Brca1 Hereditary Breast and Ovarian Cancer Syndrome 47
Familial Susceptibility to Breast-Ovarian Cancer 1 47 26
Brca1 Hereditary Breast and Ovarian Cancer 24
Malignant Neoplasm of Breast 67
 
Breast Carcinoma 67
Breast Cancer 24
Brovca1 47

Classifications:



Summaries for Brca1 Hereditary Breast and Ovarian Cancer Syndrome

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MalaCards based summary: Brca1 Hereditary Breast and Ovarian Cancer Syndrome, also known as familial susceptibility to breast-ovarian cancer 1, is related to estrogen-receptor negative breast cancer and familial breast cancer, and has symptoms including pelvic pain An important gene associated with Brca1 Hereditary Breast and Ovarian Cancer Syndrome is BRCA1 (BRCA1, DNA Repair Associated), and among its related pathways are FOXM1 transcription factor network and DNA damage_NHEJ mechanisms of DSBs repair. Affiliated tissues include breast, testes and prostate, and related mouse phenotypes are limbs/digits/tail and integument.

Related Diseases for Brca1 Hereditary Breast and Ovarian Cancer Syndrome

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Diseases related to Brca1 Hereditary Breast and Ovarian Cancer Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 70)
idRelated DiseaseScoreTop Affiliating Genes
1estrogen-receptor negative breast cancer33.0BRCA1, BRCA2
2familial breast cancer32.1APC, BRCA1, BRCA2, CHEK2, PALB2
3breast cancer, childhood30.9APC, BRCA1, BRCA2, CHEK2, NBN, PALB2
4breast cancer30.5APC, ATM, BRCA1, BRCA2, BRIP1, CHEK2
5bilateral breast cancer12.2
6estrogen-receptor positive breast cancer12.0
7sporadic breast cancer12.0
8female breast cancer11.9
9progesterone-receptor positive breast cancer11.9
10triple-receptor negative breast cancer11.9
11progesterone-receptor negative breast cancer11.9
12androgen insensitivity, partial, with or without breast cancer11.8
13inflammatory breast carcinoma11.8
14her2-receptor positive breast cancer11.8
15her2-receptor negative breast cancer11.8
16bard1-related susceptibility to breast cancer11.7
17brip1-related breast cancer11.7
18chek2-related susceptibility to breast cancer11.7
19rad51-related susceptibility to breast cancer11.7
20gastric cancer risk after h. pylori infection11.5
21breast-ovarian cancer, familial, 110.8
22congenital pulmonary veins atresia or stenosis10.4BRCA1, BRCA2
23bronchopulmonary dysplasia10.4BRCA1, BRCA2
24cutaneous lupus erythematosus10.4BRCA1, BRCA2
25autoimmune disease of blood10.4BRCA1, BRCA2
26selective ige deficiency disease10.4BRCA1, BRCA2
27cervical serous adenocarcinoma10.4BRCA1, BRCA2
28fat necrosis of breast10.4BRCA1, BRCA2
29ovarian brenner tumor10.4BRCA1, BRCA2
30fallopian tube germ cell cancer10.4BRCA1, BRCA2
31rectum mucinous adenocarcinoma10.4BRCA1, BRCA2
32chronic frontal sinusitis10.4BRCA1, BRCA2
33papillary adenofibroma10.3BRCA1, BRCA2
34spindle cell synovial sarcoma10.3BRCA1, BRCA2
35leiomyosarcoma10.3BRCA1, BRCA2
36breast squamous cell carcinoma10.3BRCA1, BRCA2
37distal monosomy 9p10.3BRCA1, BRCA2
38mediastinal neurilemmoma10.3BRCA1, BRCA2
39myasthenia gravis, limb-girdle10.3BRCA1, BRCA2
40ductal carcinoma in situ10.3BRCA1, BRCA2
41dental caries10.2BRCA1, BRCA2
42milker's nodule10.2BRCA1, BRCA2
43mucinous adenocarcinoma10.2APC, BRCA2
44ovarian wilms' cancer10.2BRCA1, BRCA2
45lung carcinoma in situ10.2BRCA1, BRCA2
46trachea sarcoma10.1BRCA1, BRCA2
47ovarian cancer, somatic10.0BRCA1, BRCA2, PALB2
48bile duct disease10.0ATM, BRCA1
49lethal congenital contracture syndrome 710.0BRCA1, BRCA2, NBN
50lipoma of the rectum10.0BRCA1, BRCA2

Graphical network of the top 20 diseases related to Brca1 Hereditary Breast and Ovarian Cancer Syndrome:



Diseases related to brca1 hereditary breast and ovarian cancer syndrome

Symptoms for Brca1 Hereditary Breast and Ovarian Cancer Syndrome

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UMLS symptoms related to Brca1 Hereditary Breast and Ovarian Cancer Syndrome:


pelvic pain

Drugs & Therapeutics for Brca1 Hereditary Breast and Ovarian Cancer Syndrome

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Drugs for Brca1 Hereditary Breast and Ovarian Cancer Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 20)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
CarboplatinapprovedPhase 2, Phase 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+)
2
Paclitaxelapproved, vet_approvedPhase 2, Phase 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
3
Doxorubicinapproved, investigationalPhase 2171423214-92-831703
Synonyms:
(1S,3S)-3-Glycoloyl-3,5,12-trihydroxy-10-methoxy-6,11-dioxo-1,2,3,4,6,11-hexahydrotetracen-1-yl 3-amino-2,3,6-trideoxy-alpha-L-lyxo-hexopyranoside
(8S-cis)-10-((3-amino-2,3,6-Trideoxy-alpha-L-lyxo-hexopyranosyl)oxy)-7,8,9,10-tetrahydro-6,8,11-trihydroxy-8-(hydroxyacetyl)-1-methoxy-5,12-naphthacenedione
111266-55-8
14-Hydroxydaunomycin
14-Hydroxydaunorubicine
14-hydroxydaunomycin
14-hydroxydaunorubicine
23214-92-8
23257-17-2
24385-08-8
25311-50-6
25316-40-9
25316-40-9 (hydrochloride)
29042-30-6
AC1L1M5T
AC1Q29OJ
ADM
ADR
Adriablastin
Adriacin (hydrochloride salt)
Adriamycin
Adriamycin PFS
Adriamycin PFS (hydrochloride salt)
Adriamycin RDF
Adriamycin RDF (hydrochloride salt)
Adriamycin Semiquinone
Adriamycin semiquinone
Adriblas tina
Adriblastin
Adriblastina
Adriblastina (TN)
Adriblastina (hydrochloride salt)
Aerosolized Doxorubicin
BPBio1_000502
BRD-K92093830-003-04-3
BSPBio_000456
BSPBio_001031
C01661
C27H29NO11
CCRIS 739
CHEBI:28748
CHEMBL179
CID31703
Caelyx
Conjugate of doxorubicin with humanized monoclonal antibody LL1 against CD74
Conjugate of doxorubicin with monoclonal antibody P4/D10 against GP120
D03899
DB00997
DM2
DOX-SL
Doxil
Doxo
Doxorubicin
Doxorubicin (USAN/INN)
Doxorubicin HCl
 
Doxorubicin Hydrochloride
Doxorubicin [USAN:INN:BAN]
Doxorubicin citrate
Doxorubicin hydrochloride (hydrochloride salt)
Doxorubicin-P4/D10
Doxorubicin-P4/D10 conjugate
Doxorubicin-hLL1
Doxorubicin-hLL1 conjugate
Doxorubicina
Doxorubicina [INN-Spanish]
Doxorubicine
Doxorubicine [INN-French]
Doxorubicinum
Doxorubicinum [INN-Latin]
EINECS 245-495-6
FI 106
Farmablastina (hydrochloride salt)
HMS2089H06
HSDB 3070
Hydroxydaunomycin hydrochlor ide (hydrochloride salt)
Hydroxydaunomycin hydrochloride (hydrochloride salt)
Hydroxydaunorubicin
Hydroxydaunorubicin hydrochloride (hydrochloride salt)
JT9100000
LMPK13050001
LS-1029
LS-165655
MLS000759533
Myocet
NCI-C01514
NChemBio.2007.10-comp13
NDC 38242-874
NIOSH/JT9100000
NSC 123127
Prestwick0_000438
Prestwick1_000438
Prestwick2_000438
Prestwick3_000438
Probes1_000151
Probes2_000129
RDF Rubex
Resmycin
Rubex
Rubex (hydrochloride salt)
SMP1_000106
SPBio_002395
TLC D-99
ThermoDox
Triferric doxorubicin
UNII-80168379AG
adiblastine (hydrochloride salt)
adr iablatina (hydrochloride salt)
adriablastine (hydrochloride salt)
adriablatina (hydrochloride salt)
adriblatina (hydrochloride salt)
doxorubicin
nchembio809-comp5
4
Cyclophosphamideapproved, investigationalPhase 2282950-18-0, 6055-19-22907
Synonyms:
(+-)-Cyclophosphamide
(-)-Cyclophosphamide
(RS)-Cyclophosphamide
1-(bis(2-chloroethyl)amino)-1-oxo-2-aza-5-oxaphosphoridine
1-Bis(2-chloroethyl)amino-1-oxo-2-aza-5-oxaphosphoridin
2-[Bis(2-chloroethylamino)]-tetrahydro-2H-1,3,2-oxazaphosphorine-2-oxide
4-Hydroxy-cyclophosphan-mamophosphatide
50-18-0
60007-95-6
6055-19-2 (monohydrate)
75526-90-8
AC1L1EQQ
AI3-26198
ASTA
ASTA B518
Anhydrous cyclophosphamide
Asta B 518
B 518
B-518
BRN 0011744
BSPBio_002099
Bis(2-chloroethyl)phosphoramide cyclic propanolamide ester
C 0768
C07888
C7H15Cl2N2O2P
CB 4564
CB-4564
CCRIS 188
CHEBI:4027
CHEMBL32520
CHEMBL88
CID2907
CP
CPA
CTX
CY
Ciclofosfamida
Ciclofosfamida [INN-Spanish]
Ciclofosfamide
Ciclophosphamide
Ciclophosphamide [INN]
Clafen
Claphene
Cycloblastin
Cyclophosphamid
Cyclophosphamide
Cyclophosphamide (INN)
Cyclophosphamide (TN)
Cyclophosphamide (anhydrous form)
Cyclophosphamide (anhydrous)
Cyclophosphamide Monohydrate
Cyclophosphamide Sterile
Cyclophosphamide anhydrous
Cyclophosphamide, (+-)-Isomer
Cyclophosphamides
Cyclophosphamidum
Cyclophosphamidum [INN-Latin]
Cyclophosphan
Cyclophosphane
Cyclophosphanum
Cyclophosphoramide
Cyclostin
Cyklofosfamid
Cyklofosfamid [Czech]
Cytophosphan
Cytophosphane
Cytoxan
Cytoxan (TN)
Cytoxan Lyoph
D,L-Cyclophosphamide
D07760
 
DB00531
DivK1c_000246
EINECS 200-015-4
EU-0100238
Endoxan
Endoxan R
Endoxan-Asta
Endoxana
Endoxanal
Endoxane
Enduxan
Genoxal
HMS2090A12
HSDB 3047
Hexadrin
IDI1_000246
KBio1_000246
KBio2_001338
KBio2_003906
KBio2_006474
KBio3_001319
KBioGR_000888
KBioSS_001338
LS-1302
LS-99787
Ledoxina
Lopac-C-0768
Lopac0_000238
Lyophilized Cytoxan
Mitoxan
MolPort-001-783-420
N,N-Bis(2-chloroethyl)-1,3,2-oxazaphosphinan-2-amine 2-oxide
N,N-Bis(2-chloroethyl)tetrahydro-2H-1,3,2-oxazaphosphorin-2-amine 2-oxide
NCGC00015209-01
NCGC00015209-03
NCGC00015209-06
NCGC00091741-02
NCGC00091741-03
NCI-C04900
NCI60_002097
NINDS_000246
NSC 26271
NSC-26271
NSC26271
NSC273033
NSC273034
Neosar
Occupation, cyclophosphamide exposure
Procytox
RCRA waste no. U058
Rcra Waste Number U058
Rcra waste number U058
Revimmune
S1217_Selleck
SK 20501
SPBio_001071
STK177249
STOCK2S-91217
Semdoxan
Sendoxan
Senduxan
Spectrum2_001146
Spectrum3_000370
Spectrum4_000304
Spectrum5_000795
Spectrum_000858
UNII-6UXW23996M
WLN: T6MPOTJ BO BN2G2G
Zyklophosphamid
Zyklophosphamid [German]
bis(2-Chloroethyl)phosphami de cyclic propanolamide
bis(2-Chloroethyl)phosphamide cyclic propanolamide ester
cyclophosphamide
5
DoxilApproved June 1999Phase 2171431703
Synonyms:
Dox-SL
Doxil
 
Evacet
LipoDox
Pegylated Liposomal Doxorubicin Hydrochloride
liposomal doxorubicin
6Antimitotic AgentsPhase 2, Phase 15498
7Antineoplastic Agents, PhytogenicPhase 2, Phase 15420
8Albumin-Bound PaclitaxelPhase 2, Phase 12757
9Alkylating AgentsPhase 24694
10Topoisomerase InhibitorsPhase 24945
11Immunosuppressive AgentsPhase 212770
12Anti-Bacterial AgentsPhase 210884
13Antibiotics, AntitubercularPhase 26972
14Antineoplastic Agents, AlkylatingPhase 24474
15Antirheumatic AgentsPhase 210627
16
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
17Poly(ADP-ribose) Polymerase InhibitorsPhase 1309
18
Olaparibapproved126763113-22-023725625
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
19
Pancrelipaseapproved93553608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
PA
 
Pancreatic alpha-amylase precursor
Pancrelipase (amylase
lipase
protease)
20pancreatin935

Interventional clinical trials:

(show all 23)
idNameStatusNCT IDPhase
1Methods in Education for Breast Cancer GeneticsActive, not recruitingNCT00001806Phase 3
2Trial of Inquiry Based Stress Reduction (IBSR) Program for BRCA1/2 Mutation CarriersCompletedNCT01367639Phase 2
3Search Allelic Imbalance of Expression of BRCA Genes in Hereditary Risk of Breast and/or Ovarian CancerCompletedNCT01333748Phase 2
4A Phase II Single Arm Pilot Study of the Chk1/2 Inhibitor (LY2606368) in BRCA1/2 Mutation Associated Breast or Ovarian Cancer, Triple Negative Breast Cancer, High Grade Serous Ovarian Cancer, and Metastatic Castrate-Resistant Prostate CancerRecruitingNCT02203513Phase 2
5Neoadjuvant Carboplatin in Triple Negative Breast CancerNot yet recruitingNCT02978495Phase 2
6Family Gene ToolkitSuspendedNCT02154633Phase 2
7Veliparib, Carboplatin, and Paclitaxel in Treating Patients With Advanced Solid CancerCompletedNCT00535119Phase 1
8Veliparib in Treating Patients With Malignant Solid Tumors That Do Not Respond to Previous TherapyActive, not recruitingNCT00892736Phase 1
9Risk Education and Assessment for Cancer HeredityCompletedNCT01346761
10Establishment of Normal Breast Epithelial Cell Lines From Patients at High Risk for Breast CancerCompletedNCT00001496
11Efficacy of Lifestyle Intervention in BRCA1/2 Mutation CarriersRecruitingNCT02516540
12Triple Negative Breast Cancer and Germline Hereditary Breast and Ovarian Cancer Mutation Carrier RegistryRecruitingNCT02302742
13Cancer Genetics Hereditary Cancer Panel TestingRecruitingNCT02324062
14Pancreatic Cancer GeneticsRecruitingNCT01102569
15C-PATROL - Non-interventional Study (NIS) to Collect Clinical and Patient Reported Outcome Data in an Olaparib Treated BRCAm+ PSR Ovarian Cancer PopulationRecruitingNCT02503436
16Feasibility of Lifestyle Intervention in BRCA1/2 Mutation CarriersActive, not recruitingNCT02087592
17Clinical, Genetic, Behavioral, Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Breast/Ovarian CancerActive, not recruitingNCT00040222
18Genetic Counseling for Breast Cancer Survivors (GC for BC)Active, not recruitingNCT02451735
19Culturally-Informed Counseling in Latinas at High Risk for Hereditary Breast or Ovarian CancerActive, not recruitingNCT01230346
20Identification and Referral of Women at Risk for Hereditary Breast/Ovarian CancerEnrolling by invitationNCT02786147
21Women at Risk of Breast Cancer and OLFM4Not yet recruitingNCT02653105
22Inherited Susceptible Genes Among Epithelial Ovarian CancerNot yet recruitingNCT03015376
23Family Communication of Hereditary Breast and Ovarian Cancer Risk Among African AmericansTerminatedNCT01374685

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Genetic Tests for Brca1 Hereditary Breast and Ovarian Cancer Syndrome

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Genetic tests related to Brca1 Hereditary Breast and Ovarian Cancer Syndrome:

id Genetic test Affiliating Genes
1 Breast-Ovarian Cancer, Familial 126
2 Brca1 Hereditary Breast and Ovarian Cancer24 BRCA1

Anatomical Context for Brca1 Hereditary Breast and Ovarian Cancer Syndrome

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MalaCards organs/tissues related to Brca1 Hereditary Breast and Ovarian Cancer Syndrome:

35
Breast, Testes, Prostate

Animal Models for Brca1 Hereditary Breast and Ovarian Cancer Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Brca1 Hereditary Breast and Ovarian Cancer Syndrome:

40 (show all 19)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.0APC, BRCA1, BRCA2, PALB2
2MP:00107718.1APC, ATM, BRCA1, BRCA2, PALB2
3MP:00053807.8APC, ATM, BRCA1, BRCA2, NBN, PALB2
4MP:00053877.6APC, ATM, BRCA1, BRCA2, CHEK2, NBN
5MP:00053977.5APC, ATM, BRCA1, BRCA2, CHEK2, NBN
6MP:00053797.5APC, ATM, BRCA1, BRCA2, BRIP1, NBN
7MP:00053897.5APC, ATM, BRCA1, BRCA2, BRIP1, NBN
8MP:00107686.9APC, ATM, BRCA1, BRCA2, CHEK2, NBN
9MP:00053766.9APC, ATM, BRCA1, BRCA2, BRIP1, CHEK2
10MP:00020066.7APC, ATM, BRCA1, BRCA2, BRIP1, CHEK2
11MP:00053846.6APC, ATM, BRCA1, BRCA2, BRIP1, CHEK2
12MP:00036316.5APC, ATM, BRCA1, BRCA2, BRIP1, NBN

Publications for Brca1 Hereditary Breast and Ovarian Cancer Syndrome

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Variations for Brca1 Hereditary Breast and Ovarian Cancer Syndrome

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Clinvar genetic disease variations for Brca1 Hereditary Breast and Ovarian Cancer Syndrome:

5 (show all 1,141)
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
3BRCA1NM_007294.3(BRCA1): c.19_47del29 (p.Arg7Cysfs)deletionPathogenicrs80359871GRCh37Chr 17, 41276067: 41276095
4BRCA1NM_007294.3(BRCA1): c.1518delG (p.Arg507Aspfs)deletionPathogenicrs80357947GRCh38Chr 17, 43094013: 43094013
5BRCA1NM_007294.3(BRCA1): c.1812delA (p.Ala605Hisfs)deletionPathogenicrs80357927GRCh38Chr 17, 43093719: 43093719
6BRCA1NM_007294.3(BRCA1): c.80+5G> ASNVPathogenicrs80358045GRCh38Chr 17, 43124012: 43124012
7BRCA1NM_007294.3(BRCA1): c.2077_2078insTA (p.Asp693Valfs)insertionPathogenicrs80357595GRCh38Chr 17, 43093453: 43093454
8BRCA1NM_007294.3(BRCA1): c.2273dupT (p.Leu758Phefs)duplicationPathogenicrs80357681GRCh37Chr 17, 41245275: 41245275
9BRCA1NM_007294.3(BRCA1): c.135-2A> GSNVLikely pathogenic, Pathogenicrs80358065GRCh38Chr 17, 43106535: 43106535
10BRCA1NM_007294.3(BRCA1): c.2995_2996delCTinsTA (p.Leu999Ter)indelPathogenicrs273899692GRCh38Chr 17, 43092535: 43092536
11BRCA1NM_007294.3(BRCA1): c.3044dupG (p.Asn1016Lysfs)duplicationPathogenicrs80357746GRCh38Chr 17, 43092487: 43092487
12BRCA1NM_007294.3(BRCA1): c.3908dupT (p.Leu1303Phefs)duplicationPathogenicrs80357634GRCh38Chr 17, 43091623: 43091623
13BRCA1NM_007294.3(BRCA1): c.4128_4129delAA (p.Ser1377Argfs)deletionPathogenicrs80357921GRCh38Chr 17, 43091000: 43091001
14BRCA1NM_007294.3(BRCA1): c.4676-1G> ASNVLikely pathogenic, Pathogenicrs80358008GRCh38Chr 17, 43071239: 43071239
15BRCA1NM_007294.3(BRCA1): c.4676-2A> GSNVLikely pathogenic, Pathogenicrs80358096GRCh37Chr 17, 41223257: 41223257
16BRCA1NM_007294.3(BRCA1): c.5152+1G> ASNVPathogenicrs80358094GRCh37Chr 17, 41215890: 41215890
17BRCA1NM_007294.3(BRCA1): c.5332+4A> GSNVPathogenicrs80358166GRCh38Chr 17, 43051059: 43051059
18BRCA1NM_007294.3(BRCA1): c.5467+2T> CSNVLikely pathogenic, Pathogenicrs80358009GRCh38Chr 17, 43047641: 43047641
19BRCA1NM_007294.3(BRCA1): c.456_457delCA (p.Ser153Cysfs)deletionPathogenicrs80357882GRCh38Chr 17, 43099865: 43099866
20BRCA1NM_007294.3(BRCA1): c.671-1G> TSNVLikely pathogenic, Pathogenicrs80358020GRCh38Chr 17, 43094861: 43094861
21PALB2NM_024675.3(PALB2): c.1027C> T (p.Gln343Ter)SNVPathogenic, risk factorrs180177097GRCh38Chr 16, 23635519: 23635519
22PALB2NM_024675.3(PALB2): c.1592delT (p.Leu531Cysfs)deletionPathogenic, risk factorrs180177102GRCh38Chr 16, 23634954: 23634954
23PALB2NM_024675.3(PALB2): c.2323C> T (p.Gln775Ter)SNVPathogenic, risk factorrs180177111GRCh38Chr 16, 23629831: 23629831
24PALB2NM_024675.3(PALB2): c.3113G> A (p.Trp1038Ter)SNVLikely pathogenic, Pathogenic, risk factorrs180177132GRCh38Chr 16, 23621362: 23621362
25PALB2NM_024675.3(PALB2): c.3116delA (p.Asn1039Ilefs)deletionLikely pathogenic, Pathogenic, risk factorrs180177133GRCh38Chr 16, 23614089: 23614089
26BRCA1NM_007294.3(BRCA1): c.2506delG (p.Glu836Lysfs)deletionPathogenicrs587780798GRCh37Chr 17, 41245042: 41245042
27BRCA1NM_007294.3(BRCA1): c.3874delT (p.Ser1292Leufs)deletionPathogenicrs587780802GRCh37Chr 17, 41243674: 41243674
28BRCA1NM_007294.3(BRCA1): c.5205delA (p.Val1736Serfs)deletionPathogenicrs587781258GRCh37Chr 17, 41209141: 41209141
29BRCA1NM_007294.3(BRCA1): c.2621delA (p.Asn874Ilefs)deletionPathogenicrs587781423GRCh38Chr 17, 43092910: 43092910
30BRCA1NM_007294.3(BRCA1): c.485dupT (p.Arg163Glufs)duplicationPathogenicrs587781427GRCh38Chr 17, 43099837: 43099837
31BRCA1NM_007294.3(BRCA1): c.512dupT (p.Gln172Thrfs)duplicationPathogenicrs587781487GRCh38Chr 17, 43099810: 43099810
32BRCA1NM_007294.3(BRCA1): c.4401delG (p.Asn1468Ilefs)deletionPathogenicrs587781611GRCh37Chr 17, 41228588: 41228588
33BRCA2NM_000059.3(BRCA2): c.1909+1G> ASNVLikely pathogenic, Pathogenicrs587781629GRCh37Chr 13, 32907525: 32907525
34BRCA1NM_007294.3(BRCA1): c.192T> A (p.Cys64Ter)SNVPathogenicrs587781632GRCh37Chr 17, 41258493: 41258493
35BRCA2NM_000059.3(BRCA2): c.6816_6820delAAGAG (p.Gly2274Alafs)deletionPathogenicrs587781803GRCh37Chr 13, 32915308: 32915312
36BRCA1NM_007294.3(BRCA1): c.5310_5311delGC (p.Pro1771Leufs)deletionPathogenicrs587781825GRCh37Chr 17, 41203101: 41203102
37BRCA1NM_007294.3(BRCA1): c.4655dupA (p.Tyr1552Terfs)duplicationPathogenicrs587782143GRCh37Chr 17, 41226368: 41226368
38BRCA1NM_007294.3(BRCA1): c.301+1G> ASNVLikely pathogenic, Pathogenicrs587782173GRCh38Chr 17, 43104867: 43104867
39BRCA1NM_007294.3(BRCA1): c.1488delT (p.Leu498Serfs)deletionPathogenicrs587782251GRCh37Chr 17, 41246060: 41246060
40BRCA1NM_007294.3(BRCA1): c.4799dupT (p.Leu1600Phefs)duplicationPathogenicrs587782392GRCh37Chr 17, 41223132: 41223132
41BRCA1NM_007294.3(BRCA1): c.2593A> T (p.Lys865Ter)SNVPathogenicrs587782628GRCh37Chr 17, 41244955: 41244955
42BRCA1NM_007294.3(BRCA1): c.335_338delATAA (p.Asn112Thrfs)deletionPathogenicrs587782666GRCh38Chr 17, 43104225: 43104228
43BRCA1NM_007294.3(BRCA1): c.2056G> T (p.Glu686Ter)SNVPathogenicrs587782709GRCh38Chr 17, 43093475: 43093475
44BRCA1NM_007294.3(BRCA1): c.4389C> G (p.Tyr1463Ter)SNVPathogenicrs80356997GRCh38Chr 17, 43076583: 43076583
45BRCA2NM_000059.3(BRCA2): c.2059_2063delGATTA (p.Asp687Terfs)deletionPathogenicrs587782780GRCh38Chr 13, 32336414: 32336418
46BRCA1NM_007294.3(BRCA1): c.3969_3970delAA (p.Gln1323Hisfs)deletionPathogenicrs587782834GRCh38Chr 17, 43091561: 43091562
47BRCA1NM_007294.3(BRCA1): c.4250delT (p.Val1417Glyfs)deletionPathogenicrs587782879GRCh38Chr 17, 43082511: 43082511
48BRCA1NM_007294.3(BRCA1): c.4468G> T (p.Glu1490Ter)SNVPathogenicrs138608489GRCh37Chr 17, 41228521: 41228521
49BRCA1NM_007294.3(BRCA1): c.181T> G (p.Cys61Gly)SNVPathogenicrs28897672GRCh37Chr 17, 41258504: 41258504
50BRCA1NM_007294.3(BRCA1): c.68_69delAG (p.Glu23Valfs)deletionPathogenicrs386833395GRCh37Chr 17, 41276047: 41276048
51BRCA1NM_007294.3(BRCA1): c.1175_1214del40 (p.Leu392Glnfs)deletionPathogenicrs80359874GRCh37Chr 17, 41246334: 41246373
52BRCA1NM_007294.3(BRCA1): c.2296_2297delAG (p.Ser766Terfs)deletionPathogenicrs80357780GRCh37Chr 17, 41245251: 41245252
53BRCA1NM_007294.3(BRCA1): c.2681_2682delAA (p.Lys894Thrfs)deletionPathogenicrs80357971GRCh37Chr 17, 41244866: 41244867
54BRCA1NM_007294.3(BRCA1): c.3005delA (p.Asn1002Thrfs)deletionPathogenicrs80357601GRCh38Chr 17, 43092526: 43092526
55BRCA1NM_007294.3(BRCA1): c.3607C> T (p.Arg1203Ter)SNVPathogenicrs62625308GRCh37Chr 17, 41243941: 41243941
56BRCA1NM_007294.3(BRCA1): c.3748G> T (p.Glu1250Ter)SNVPathogenicrs28897686GRCh37Chr 17, 41243800: 41243800
57BRCA1NM_007294.3(BRCA1): c.3756_3759delGTCT (p.Ser1253Argfs)deletionPathogenicrs80357868GRCh37Chr 17, 41243789: 41243792
58BRCA1NM_007294.3(BRCA1): c.4065_4068delTCAA (p.Asn1355Lysfs)deletionPathogenicrs80357508GRCh37Chr 17, 41243480: 41243483
59BRCA1NM_007294.3(BRCA1): c.4327C> T (p.Arg1443Ter)SNVPathogenicrs41293455GRCh37Chr 17, 41234451: 41234451
60BRCA1NM_007294.3(BRCA1): c.5266dupC (p.Gln1756Profs)duplicationPathogenicrs80357906GRCh37Chr 17, 41209082: 41209082
61BRCA1NM_007294.3(BRCA1): c.2389G> T (p.Glu797Ter)SNVPathogenicrs62625306GRCh37Chr 17, 41245159: 41245159
62BRCA1NM_007294.3(BRCA1): c.843_846delCTCA (p.Ser282Tyrfs)deletionPathogenicrs80357919GRCh37Chr 17, 41246702: 41246705
63BRCA1NM_007294.3(BRCA1): c.3481_3491delGAAGATACTAG (p.Glu1161Phefs)deletionPathogenicrs80357877GRCh37Chr 17, 41244057: 41244067
64BRCA1NM_007294.3(BRCA1): c.1556delA (p.Lys519Argfs)deletionPathogenicrs80357662GRCh37Chr 17, 41245992: 41245992
65BRCA1NM_007294.3(BRCA1): c.211A> G (p.Arg71Gly)SNVLikely pathogenic, Pathogenicrs80357382GRCh37Chr 17, 41258474: 41258474
66BRCA1NM_007294.3(BRCA1): c.5324T> G (p.Met1775Arg)SNVPathogenicrs41293463GRCh37Chr 17, 41203088: 41203088
67BRCA1NM_007294.3(BRCA1): c.5324T> A (p.Met1775Lys)SNVPathogenicrs41293463GRCh37Chr 17, 41203088: 41203088
68BRCA1NM_007294.3(BRCA1): c.2938delA (p.Ile980Tyrfs)deletionPathogenicrs730881439GRCh38Chr 17, 43092593: 43092593
69BRCA1NM_007294.3(BRCA1): c.3767_3768delCA (p.Thr1256Argfs)deletionPathogenicrs730881440GRCh37Chr 17, 41243780: 41243781
70BRCA1NM_007294.3(BRCA1): c.5474_5481delGGCAGATG (p.Gly1825Valfs)deletionPathogenicrs730881441GRCh38Chr 17, 43045789: 43045796
71BRCA1NM_007294.3(BRCA1): c.45delT (p.Asn16Metfs)deletionPathogenicrs730881457GRCh38Chr 17, 43124052: 43124052
72BRCA1NM_007294.3(BRCA1): c.1340_1341delTT (p.Val447Alafs)deletionPathogenicrs730881458GRCh37Chr 17, 41246207: 41246208
73BRCA1NM_007294.3(BRCA1): c.1860delT (p.His621Metfs)deletionPathogenicrs730881459GRCh38Chr 17, 43093671: 43093671
74BRCA1NM_007294.3(BRCA1): c.2945delC (p.Pro982Hisfs)deletionPathogenicrs730881461GRCh38Chr 17, 43092586: 43092586
75BRCA1NM_007294.3(BRCA1): c.3129_3138delTATTAATGAA (p.Asn1043Lysfs)deletionPathogenicrs730881462GRCh38Chr 17, 43092393: 43092402
76BRCA1NM_007294.3(BRCA1): c.869T> G (p.Leu290Ter)SNVPathogenicrs730881468GRCh38Chr 17, 43094662: 43094662
77BRCA1NM_007294.3(BRCA1): c.1714G> T (p.Glu572Ter)SNVPathogenicrs730881473GRCh38Chr 17, 43093817: 43093817
78BRCA1NM_007294.3(BRCA1): c.4987-1G> ASNVPathogenicrs730881495GRCh38Chr 17, 43067696: 43067696
79BRCA1NM_007294.3(BRCA1): c.4998C> A (p.Tyr1666Ter)SNVPathogenicrs730882165GRCh37Chr 17, 41219701: 41219701
80BRCA1NM_007294.3(BRCA1): c.5269_5273delGACAG (p.Asp1757Lysfs)deletionPathogenicrs786202040GRCh38Chr 17, 43057056: 43057060
81BRCA1NM_007294.3(BRCA1): c.4834C> T (p.Gln1612Ter)SNVPathogenicrs786202064GRCh37Chr 17, 41223097: 41223097
82BRCA1NM_007294.3(BRCA1): c.212G> T (p.Arg71Met)SNVLikely pathogenic, Pathogenicrs80356913GRCh37Chr 17, 41258473: 41258473
83BRCA1NM_007294.3(BRCA1): c.5153-2A> GSNVLikely pathogenic, Pathogenicrs786202545GRCh37Chr 17, 41215392: 41215392
84BRCA1NM_007294.3(BRCA1): c.4523G> A (p.Trp1508Ter)SNVPathogenicrs786202631GRCh37Chr 17, 41226500: 41226500
85BRCA1NM_007294.3(BRCA1): c.2398_2401delAAAT (p.Lys800Valfs)deletionPathogenicrs786202684GRCh37Chr 17, 41245147: 41245150
86BRCA1NM_007294.3(BRCA1): c.3323_3324delTA (p.Ile1108Lysfs)deletionPathogenicrs786202791GRCh37Chr 17, 41244224: 41244225
87BRCA1NM_007294.3(BRCA1): c.3066delA (p.Val1023Terfs)deletionPathogenicrs786202906GRCh37Chr 17, 41244482: 41244482
88BRCA1NM_007294.3(BRCA1): c.2407_2408delAG (p.Gln804Valfs)deletionPathogenicrs786202919GRCh37Chr 17, 41245140: 41245141
89BRCA1NM_007294.3(BRCA1): c.3658delG (p.Asp1220Metfs)deletionPathogenicrs786202963GRCh37Chr 17, 41243890: 41243890
90BRCA1NM_007294.3(BRCA1): c.4099G> T (p.Glu1367Ter)SNVPathogenicrs786202998GRCh37Chr 17, 41243047: 41243047
91BRCA1NM_007294.3(BRCA1): c.1256dupT (p.Asp420Argfs)duplicationPathogenicrs786203103GRCh37Chr 17, 41246292: 41246292
92BRCA1NM_007294.3(BRCA1): c.4379delG (p.Ser1460Ilefs)deletionPathogenicrs786203149GRCh37Chr 17, 41228610: 41228610
93BRCA1NM_007294.3(BRCA1): c.2214dupT (p.Lys739Terfs)duplicationPathogenicrs397507197GRCh37Chr 17, 41245334: 41245334
94BRCA1NM_007294.3(BRCA1): c.416dupA (p.Ser140Glufs)duplicationPathogenicrs786203432GRCh37Chr 17, 41256164: 41256164
95BRCA1NM_007294.3(BRCA1): c.3481G> T (p.Glu1161Ter)SNVPathogenicrs786203438GRCh37Chr 17, 41244067: 41244067
96BRCA1NM_007294.3(BRCA1): c.3157G> T (p.Glu1053Ter)SNVPathogenicrs786203587GRCh37Chr 17, 41244391: 41244391
97BRCA1NM_007294.3(BRCA1): c.2654dupT (p.Ser886Leufs)duplicationPathogenicrs786203592GRCh37Chr 17, 41244894: 41244894
98BRCA1NM_007294.3(BRCA1): c.1964delA (p.Tyr655Serfs)deletionPathogenicrs786203594GRCh37Chr 17, 41245584: 41245584
99BRCA1NM_007294.3(BRCA1): c.5359_5363delTGTGGinsAGTGA (p.Cys1787_Gly1788delinsSerAsp)indelPathogenicrs786203663GRCh37Chr 17, 41201181: 41201185
100BRCA1NM_007294.3(BRCA1): c.3478_3487delAAGGAAGATA (p.Lys1160Leufs)deletionPathogenicrs786203694GRCh37Chr 17, 41244061: 41244070
101BRCA1NM_007294.3(BRCA1): c.5027T> G (p.Leu1676Ter)SNVPathogenicrs786203754GRCh37Chr 17, 41219672: 41219672
102BRCA1NM_007294.3(BRCA1): c.3626T> G (p.Leu1209Ter)SNVPathogenicrs786203884GRCh37Chr 17, 41243922: 41243922
103BRCA1NM_007294.3(BRCA1): c.1477delA (p.Ile493Tyrfs)deletionPathogenicrs786203982GRCh37Chr 17, 41246071: 41246071
104BRCA1NM_007294.3(BRCA1): c.4186-?_4357+?dupduplicationPathogenicChr na, -1: -1
105BRCA1NM_007294.3(BRCA1): c.5278-?_5467+?deldeletionPathogenicChr na, -1: -1
106BRCA1NM_007294.3(BRCA1): c.1240dupG (p.Asp414Glyfs)duplicationPathogenicrs786204260GRCh37Chr 17, 41246308: 41246308
107BRCA1NM_007294.3(BRCA1): c.885_886delCA (p.Asp295Glufs)deletionPathogenicrs786204261GRCh37Chr 17, 41246662: 41246663
108BRCA1NM_007294.3(BRCA1): c.892_895dupAATG (p.Val299Glufs)duplicationPathogenicrs80357806GRCh37Chr 17, 41246653: 41246656
109BRCA1NM_007294.3(BRCA1): c.984_988delTAATG (p.Cys328Terfs)deletionPathogenicrs786204262GRCh37Chr 17, 41246560: 41246564
110BRCA1NM_007294.3(BRCA1): c.2298dupT (p.Ser767Terfs)duplicationPathogenicrs786204264GRCh38Chr 17, 43093233: 43093233
111BRCA1NM_007294.3(BRCA1): c.4386dupA (p.Tyr1463Ilefs)duplicationPathogenicrs786204267GRCh38Chr 17, 43076586: 43076586
112BRCA1NM_007294.3(BRCA1): c.594_597delTGTG (p.Ser198Argfs)deletionPathogenicrs797045175GRCh38Chr 17, 43095919: 43095922
113BRCA1NM_007294.3(BRCA1): c.4987-?_5193+?deldeletionLikely pathogenic, PathogenicChr na, -1: -1
114BRCA1NM_007294.3(BRCA1): c.2043dupT (p.Asn682Terfs)duplicationPathogenicrs863224510GRCh37Chr 17, 41245505: 41245505
115BRCA1NM_007294.3(BRCA1): c.4186-?_5193+?deldeletionPathogenicChr na, -1: -1
116BRCA1NM_007294.3(BRCA1): c.4358-?_4484+?deldeletionPathogenicChr na, -1: -1
117BRCA1NM_007294.3(BRCA1): c.4474G> T (p.Gly1492Ter)SNVPathogenicrs863224511GRCh38Chr 17, 43076498: 43076498
118BRCA1NM_007294.3(BRCA1): c.4676-?_5074+?deldeletionPathogenicChr na, -1: -1
119BRCA1NM_007294.3(BRCA1): c.490delA (p.Thr164Leufs)deletionPathogenicrs863224512GRCh37Chr 17, 41251849: 41251849
120BRCA1NM_007294.3(BRCA1): c.4709dupT (p.Phe1571Leufs)duplicationPathogenicrs864622132GRCh37Chr 17, 41223222: 41223222
121BRCA1NM_007294.3(BRCA1): c.5525delT (p.Val1842Glufs)deletionPathogenicrs864622220GRCh38Chr 17, 43045745: 43045745
122BRCA1NM_007294.3(BRCA1): c.548-?_4185+?deldeletionPathogenicChr na, -1: -1
123BRCA1NM_007294.3(BRCA1): c.531dupT (p.Val178Cysfs)duplicationPathogenicrs864622350GRCh37Chr 17, 41251808: 41251808
124BRCA1NM_007294.3(BRCA1): c.135-?_441+?dupduplicationLikely pathogenic, PathogenicChr na, -1: -1
125BRCA1NM_007294.3(BRCA1): c.2378dupA (p.Ala794Glyfs)duplicationPathogenicrs864622536GRCh37Chr 17, 41245170: 41245170
126BRCA2NM_000059.3(BRCA2): c.67+1G> CSNVLikely pathogenic, Pathogenicrs81002796GRCh38Chr 13, 32316528: 32316528
127BRCA1NM_007294.3(BRCA1): c.81-?_134+?deldeletionPathogenicChr na, -1: -1
128BRCA1NM_007294.3(BRCA1): c.132C> T (p.Cys44=)SNVPathogenicrs876658362GRCh37Chr 17, 41267745: 41267745
129BRCA1NM_007294.3(BRCA1): c.2719G> T (p.Glu907Ter)SNVPathogenicrs876658593GRCh37Chr 17, 41244829: 41244829
130BRCA1NM_007294.3(BRCA1): c.5135G> A (p.Trp1712Ter)SNVPathogenicrs876658672GRCh37Chr 17, 41215908: 41215908
131BRCA1NM_007294.3(BRCA1): c.1505_1509delTAAAG (p.Leu502Serfs)deletionPathogenicrs876659139GRCh37Chr 17, 41246039: 41246043
132BRCA1NM_007294.3(BRCA1): c.442C> T (p.Gln148Ter)SNVLikely pathogenic, Pathogenicrs876659614GRCh37Chr 17, 41251897: 41251897
133BRCA1NM_007294.3(BRCA1): c.3289dupA (p.Ser1097Lysfs)duplicationPathogenicrs876660194GRCh37Chr 17, 41244259: 41244259
134BRCA1NM_007294.3(BRCA1): c.2386_2387delACinsT (p.Thr796Terfs)indelPathogenicrs876660305GRCh37Chr 17, 41245161: 41245162
135BRCA1NM_007294.3(BRCA1): c.1155G> A (p.Trp385Ter)SNVPathogenicrs876660558GRCh37Chr 17, 41246393: 41246393
136BRCA1NM_007294.3(BRCA1): c.1601_1602delAG (p.Gln534Argfs)deletionPathogenicrs878854933GRCh38Chr 17, 43093929: 43093930
137BRCA1NM_007294.3(BRCA1): c.4484G> C (p.Arg1495Thr)SNVPathogenicrs80357389GRCh37Chr 17, 41228505: 41228505
138BRCA1NM_007294.3(BRCA1): c.3675C> A (p.Cys1225Ter)SNVPathogenicrs879254023GRCh37Chr 17, 41243873: 41243873
139BRCA1NM_007294.3(BRCA1): c.4485-1G> TSNVPathogenicrs80358189GRCh38Chr 17, 43074522: 43074522
140BRCA1NM_007294.3(BRCA1): c.2331_2332dupTG (p.Gly778Valfs)duplicationPathogenicrs431825390GRCh38Chr 17, 43093199: 43093200
141BRCA1NM_007294.3(BRCA1): c.-19-?_80+?dupduplicationPathogenicChr na, -1: -1
142BRCA1NM_007294.3(BRCA1): c.4485-?_4675+?deldeletionPathogenicChr na, -1: -1
143BRCA1NM_007294.3(BRCA1): c.81-?_4986+?deldeletionPathogenicChr na, -1: -1
144BRCA1NM_007294.3(BRCA1): c.442-?_593+?deldeletionPathogenicChr na, -1: -1
145BRCA1NM_007294.3(BRCA1): c.442-?_4357+?deldeletionPathogenicChr na, -1: -1
146BRCA1NM_007294.3(BRCA1): c.5333-?_5406+?deldeletionPathogenicChr na, -1: -1
147BRCA1NM_007294.3(BRCA1): c.5075-?_5277+?dupduplicationLikely pathogenic, PathogenicChr na, -1: -1
148BRCA1NM_007294.3(BRCA1): c.442-?_547+?deldeletionPathogenicChr na, -1: -1
149BRCA1NM_007294.3(BRCA1): c.-19-?_80+?deldeletionPathogenicChr na, -1: -1
150BRCA1NM_007294.3(BRCA1): c.65delT (p.Leu22Terfs)deletionPathogenicrs80357803GRCh37Chr 17, 41276049: 41276049
151BRCA1NM_007294.3(BRCA1): c.74_75delCC (p.Pro25Hisfs)deletionPathogenicrs80357633GRCh38Chr 17, 43124022: 43124023
152BRCA1NM_007294.3(BRCA1): c.1501_1504delAAAT (p.Lys501Terfs)deletionPathogenicrs80357632GRCh37Chr 17, 41246044: 41246047
153BRCA1NM_007294.3(BRCA1): c.1826delA (p.Asn609Ilefs)deletionPathogenicrs80357736GRCh37Chr 17, 41245722: 41245722
154BRCA1NM_007294.3(BRCA1): c.4038_4039delAA (p.Gly1348Asnfs)deletionPathogenicrs273900721GRCh37Chr 17, 41243509: 41243510
155BRCA1NM_007294.3(BRCA1): c.5276delA (p.Lys1759Argfs)deletionPathogenicrs80357732GRCh37Chr 17, 41209070: 41209070
156BRCA1NM_007294.3(BRCA1): c.3412G> T (p.Gly1138Ter)SNVPathogenicrs886040126GRCh38Chr 17, 43092119: 43092119
157ATMNM_000051.3(ATM): c.7271T> G (p.Val2424Gly)SNVLikely pathogenic, Pathogenic, risk factorrs28904921GRCh37Chr 11, 108199929: 108199929
158BRCA1NM_007294.3(BRCA1): c.1016delA (p.Lys339Argfs)deletionPathogenicrs80357618GRCh37Chr 17, 41246532: 41246532
159BRCA1NM_007294.3(BRCA1): c.1018delG (p.Val340Terfs)deletionPathogenicrs80357774GRCh37Chr 17, 41246530: 41246530
160BRCA1NM_007294.3(BRCA1): c.1121delC (p.Thr374Asnfs)deletionPathogenicrs80357612GRCh37Chr 17, 41246427: 41246427
161BRCA1NM_007294.3(BRCA1): c.116G> T (p.Cys39Phe)SNVPathogenicrs80357498GRCh37Chr 17, 41267761: 41267761
162BRCA1NM_007294.3(BRCA1): c.135-1G> TSNVPathogenicrs80358158GRCh37Chr 17, 41258551: 41258551
163BRCA1NM_007294.3(BRCA1): c.1360_1361delAG (p.Ser454Terfs)deletionPathogenicrs80357969GRCh37Chr 17, 41246187: 41246188
164BRCA1NM_007294.3(BRCA1): c.1389_1390delAAinsG (p.Thr464Profs)indelPathogenicrs273897659GRCh37Chr 17, 41246158: 41246159
165BRCA1NM_007294.3(BRCA1): c.143delT (p.Met48Serfs)deletionPathogenicrs80357637GRCh37Chr 17, 41258542: 41258542
166BRCA1NM_007294.3(BRCA1): c.1444_1447delATTA (p.Ile482Terfs)deletionPathogenicrs80357801GRCh37Chr 17, 41246101: 41246104
167BRCA1NM_007294.3(BRCA1): c.1480C> T (p.Gln494Ter)SNVPathogenicrs80357010GRCh37Chr 17, 41246068: 41246068
168BRCA1NM_007294.3(BRCA1): c.1504_1508delTTAAA (p.Leu502Alafs)deletionPathogenicrs80357888GRCh37Chr 17, 41246040: 41246044
169BRCA1NM_007294.3(BRCA1): c.1510delC (p.Arg504Valfs)deletionPathogenicrs80357908GRCh37Chr 17, 41246038: 41246038
170BRCA1NM_007294.3(BRCA1): c.1674delA (p.Gly559Valfs)deletionPathogenicrs80357600GRCh37Chr 17, 41245874: 41245874
171BRCA1NM_007294.3(BRCA1): c.1687C> T (p.Gln563Ter)SNVPathogenicrs80356898GRCh37Chr 17, 41245861: 41245861
172BRCA1NM_007294.3(BRCA1): c.1921dupA (p.Ile641Asnfs)duplicationPathogenicrs397507194GRCh37Chr 17, 41245627: 41245627
173BRCA1NM_007294.3(BRCA1): c.1953_1956delGAAA (p.Lys653Serfs)deletionPathogenicrs80357526GRCh37Chr 17, 41245592: 41245595
174BRCA1NM_007294.3(BRCA1): c.1960A> T (p.Lys654Ter)SNVPathogenicrs80357355GRCh37Chr 17, 41245588: 41245588
175BRCA1NM_007294.3(BRCA1): c.1961delA (p.Lys654Serfs)deletionPathogenicrs80357522GRCh37Chr 17, 41245587: 41245587
176BRCA1NM_007294.3(BRCA1): c.2071delA (p.Arg691Aspfs)deletionPathogenicrs80357688GRCh37Chr 17, 41245477: 41245477
177BRCA1NM_007294.3(BRCA1): c.2105dupT (p.Leu702Phefs)duplicationPathogenicrs80357880GRCh37Chr 17, 41245443: 41245443
178BRCA1NM_007294.3(BRCA1): c.212+1G> ASNVPathogenicrs80358042GRCh37Chr 17, 41258472: 41258472
179BRCA1NM_007294.3(BRCA1): c.213-11T> GSNVPathogenicrs80358061GRCh37Chr 17, 41256984: 41256984
180BRCA1NM_007294.3(BRCA1): c.213-12A> GSNVPathogenicrs80358163GRCh37Chr 17, 41256985: 41256985
181BRCA1NM_007294.3(BRCA1): c.2138C> G (p.Ser713Ter)SNVPathogenicrs80357233GRCh37Chr 17, 41245410: 41245410
182BRCA1NM_007294.3(BRCA1): c.2158G> T (p.Glu720Ter)SNVPathogenicrs80356875GRCh37Chr 17, 41245390: 41245390
183BRCA1NM_007294.3(BRCA1): c.2210_2211delCA (p.Thr737Serfs)deletionPathogenicrs80357654GRCh37Chr 17, 41245337: 41245338
184BRCA1NM_007294.3(BRCA1): c.2214_2215insTT (p.Lys739Leufs)duplicationPathogenicrs397507197GRCh37Chr 17, 41245334: 41245335
185BRCA1NM_007294.3(BRCA1): c.2269delG (p.Val757Phefs)deletionPathogenicrs80357583GRCh37Chr 17, 41245279: 41245279
186BRCA1NM_007294.3(BRCA1): c.2299delA (p.Ser767Alafs)deletionPathogenicrs80357786GRCh37Chr 17, 41245249: 41245249
187BRCA1NM_007294.3(BRCA1): c.2411_2412delAG (p.Gln804Leufs)deletionPathogenicrs80357664GRCh37Chr 17, 41245136: 41245137
188BRCA1NM_007294.3(BRCA1): c.2433delC (p.Lys812Argfs)deletionPathogenicrs80357524GRCh37Chr 17, 41245115: 41245115
189BRCA1NM_007294.3(BRCA1): c.2457delC (p.Asp821Ilefs)deletionPathogenicrs80357669GRCh37Chr 17, 41245091: 41245091
190BRCA1NM_007294.3(BRCA1): c.2475delC (p.Asp825Glufs)deletionPathogenicrs80357970GRCh37Chr 17, 41245073: 41245073
191BRCA1NM_007294.3(BRCA1): c.2515delC (p.His839Thrfs)deletionPathogenicrs80357607GRCh37Chr 17, 41245033: 41245033
192BRCA1NM_007294.3(BRCA1): c.2563C> T (p.Gln855Ter)SNVPathogenicrs80357131GRCh37Chr 17, 41244985: 41244985
193BRCA1NM_007294.3(BRCA1): c.2603C> G (p.Ser868Ter)SNVPathogenicrs80356925GRCh37Chr 17, 41244945: 41244945
194BRCA1NM_007294.3(BRCA1): c.2635G> T (p.Glu879Ter)SNVPathogenicrs80357251GRCh37Chr 17, 41244913: 41244913
195BRCA1NM_007294.3(BRCA1): c.2679_2682delGAAA (p.Lys893Asnfs)deletionPathogenicrs80357596GRCh37Chr 17, 41244866: 41244869
196BRCA1NM_007294.3(BRCA1): c.2707_2708insAT (p.Cys903Tyrfs)duplicationPathogenicrs80357717GRCh37Chr 17, 41244841: 41244842
197BRCA1NM_007294.3(BRCA1): c.2710G> T (p.Glu904Ter)SNVPathogenicrs80357035GRCh37Chr 17, 41244838: 41244838
198BRCA1NM_007294.3(BRCA1): c.2806_2809delGATA (p.Asp936Serfs)deletionPathogenicrs80357832GRCh37Chr 17, 41244739: 41244742
199BRCA1NM_007294.3(BRCA1): c.2934T> G (p.Tyr978Ter)SNVPathogenicrs80357115GRCh37Chr 17, 41244614: 41244614
200BRCA1NM_007294.3(BRCA1): c.302-2A> CSNVPathogenicrs80358011GRCh37Chr 17, 41256280: 41256280
201BRCA1NM_007294.3(BRCA1): c.302-3C> GSNVLikely pathogenic, Pathogenicrs80358051GRCh37Chr 17, 41256281: 41256281
202BRCA1NM_007294.3(BRCA1): c.3112G> T (p.Glu1038Ter)SNVPathogenicrs80357161GRCh37Chr 17, 41244436: 41244436
203BRCA1NM_007294.3(BRCA1): c.3228_3229delAG (p.Gly1077Alafs)deletionPathogenicrs80357635GRCh37Chr 17, 41244319: 41244320
204BRCA1NM_007294.3(BRCA1): c.3331_3334delCAAG (p.Gln1111Asnfs)deletionPathogenicrs80357701GRCh37Chr 17, 41244214: 41244217
205BRCA1NM_007294.3(BRCA1): c.3352C> T (p.Gln1118Ter)SNVPathogenicrs397507215GRCh37Chr 17, 41244196: 41244196
206BRCA1NM_007294.3(BRCA1): c.3358_3359delGT (p.Val1120Terfs)deletionPathogenicrs80357945GRCh37Chr 17, 41244189: 41244190
207BRCA1NM_007294.3(BRCA1): c.3389C> G (p.Ser1130Ter)SNVPathogenicrs80357405GRCh37Chr 17, 41244159: 41244159
208BRCA1NM_007294.3(BRCA1): c.3400G> T (p.Glu1134Ter)SNVPathogenicrs80357018GRCh37Chr 17, 41244148: 41244148
209BRCA1NM_007294.3(BRCA1): c.3442delG (p.Glu1148Argfs)deletionPathogenicrs80357808GRCh37Chr 17, 41244106: 41244106
210BRCA1NM_007294.3(BRCA1): c.3485delA (p.Asp1162Valfs)deletionPathogenicrs80357509GRCh37Chr 17, 41244063: 41244063
211BRCA1NM_007294.3(BRCA1): c.3612delA (p.Ala1206Profs)deletionPathogenicrs80357980GRCh37Chr 17, 41243936: 41243936
212BRCA1NM_007294.3(BRCA1): c.3627dupA (p.Glu1210Argfs)duplicationPathogenicrs80357729GRCh37Chr 17, 41243921: 41243921
213BRCA1NM_007294.3(BRCA1): c.3648dupA (p.Ser1217Ilefs)duplicationPathogenicrs80357902GRCh37Chr 17, 41243900: 41243900
214BRCA1NM_007294.3(BRCA1): c.3689T> G (p.Leu1230Ter)SNVPathogenicrs80357162GRCh37Chr 17, 41243859: 41243859
215BRCA1NM_007294.3(BRCA1): c.3700_3704delGTAAA (p.Val1234Glnfs)deletionPathogenicrs80357609GRCh37Chr 17, 41243844: 41243848
216BRCA1NM_007294.3(BRCA1): c.3759_3760delTA (p.Lys1254Glufs)deletionPathogenicrs80357520GRCh37Chr 17, 41243788: 41243789
217BRCA1NM_007294.3(BRCA1): c.3764dupA (p.Asn1255Lysfs)duplicationPathogenicrs80357848GRCh37Chr 17, 41243784: 41243784
218BRCA1NM_007294.3(BRCA1): c.3770_3771delAG (p.Glu1257Glyfs)deletionPathogenicrs80357579GRCh37Chr 17, 41243777: 41243778
219BRCA1NM_007294.3(BRCA1): c.3858_3861delTGAG (p.Ser1286Argfs)deletionPathogenicrs80357842GRCh37Chr 17, 41243687: 41243690
220BRCA1NM_007294.3(BRCA1): c.3868A> T (p.Lys1290Ter)SNVPathogenicrs80357254GRCh37Chr 17, 41243680: 41243680
221BRCA1NM_007294.3(BRCA1): c.3937C> T (p.Gln1313Ter)SNVPathogenicrs80357318GRCh37Chr 17, 41243611: 41243611
222BRCA1NM_007294.3(BRCA1): c.3991C> T (p.Gln1331Ter)SNVPathogenicrs397507224GRCh37Chr 17, 41243557: 41243557
223BRCA1NM_007294.3(BRCA1): c.4015G> T (p.Glu1339Ter)SNVPathogenicrs80357021GRCh37Chr 17, 41243533: 41243533
224BRCA1NM_007294.3(BRCA1): c.4035delA (p.Glu1346Lysfs)deletionPathogenicrs80357711GRCh37Chr 17, 41243513: 41243513
225BRCA1NM_007294.3(BRCA1): c.4096+1G> ASNVLikely pathogenic, Pathogenicrs80358178GRCh37Chr 17, 41243451: 41243451
226BRCA1NM_007294.3(BRCA1): c.4097-1G> ASNVPathogenicrs80358070GRCh37Chr 17, 41243050: 41243050
227BRCA1NM_007294.3(BRCA1): c.4116_4117delTG (p.Cys1372Terfs)deletionPathogenicrs80357804GRCh37Chr 17, 41243029: 41243030
228BRCA1NM_007294.3(BRCA1): c.4117G> T (p.Glu1373Ter)SNVPathogenicrs80357259GRCh37Chr 17, 41243029: 41243029
229BRCA1NM_007294.3(BRCA1): c.4120_4121delAG (p.Ser1374Terfs)deletionPathogenicrs80357787GRCh37Chr 17, 41243025: 41243026
230BRCA1NM_007294.3(BRCA1): c.4148C> G (p.Ser1383Ter)SNVPathogenicrs80357071GRCh37Chr 17, 41242998: 41242998
231BRCA1NM_007294.3(BRCA1): c.4185+2_4185+22del21insAindelPathogenicrs273900724GRCh37Chr 17, 41242939: 41242959
232BRCA1NM_007294.3(BRCA1): c.4243delG (p.Glu1415Lysfs)deletionPathogenicrs80357981GRCh37Chr 17, 41234535: 41234535
233BRCA1NM_007294.3(BRCA1): c.4251_4252delGT (p.Leu1418Argfs)deletionPathogenicrs80357977GRCh37Chr 17, 41234526: 41234527
234BRCA1NM_007294.3(BRCA1): c.427G> T (p.Glu143Ter)SNVPathogenicrs80356991GRCh37Chr 17, 41256153: 41256153
235BRCA1NM_007294.3(BRCA1): c.4357+1G> ASNVPathogenicrs80358027GRCh37Chr 17, 41234420: 41234420
236BRCA1NM_007294.3(BRCA1): c.4391_4393delCTAinsTT (p.Pro1464Leufs)indelPathogenicrs273900730GRCh37Chr 17, 41228596: 41228598
237BRCA1NM_007294.3(BRCA1): c.4391delC (p.Pro1464Leufs)deletionPathogenicrs80357916GRCh37Chr 17, 41228598: 41228598
238BRCA1NM_007294.3(BRCA1): c.4393delA (p.Ile1465Terfs)deletionPathogenicrs397507230GRCh37Chr 17, 41228596: 41228596
239BRCA1NM_007294.3(BRCA1): c.4482_4483delAA (p.Arg1495Valfs)deletionPathogenicrs80357854GRCh37Chr 17, 41228506: 41228507
240BRCA1NM_007294.3(BRCA1): c.4484+1G> ASNVPathogenicrs80358063GRCh37Chr 17, 41228504: 41228504
241BRCA1NM_007294.3(BRCA1): c.4484G> T (p.Arg1495Met)SNVPathogenicrs80357389GRCh37Chr 17, 41228505: 41228505
242BRCA1NM_007294.3(BRCA1): c.4675G> A (p.Glu1559Lys)SNVPathogenicrs80356988GRCh37Chr 17, 41226348: 41226348
243BRCA1NM_007294.3(BRCA1): c.4675G> C (p.Glu1559Gln)SNVLikely pathogenic, Pathogenicrs80356988GRCh37Chr 17, 41226348: 41226348
244BRCA1NM_007294.3(BRCA1): c.4689C> G (p.Tyr1563Ter)SNVPathogenicrs80357433GRCh37Chr 17, 41223242: 41223242
245BRCA1NM_007294.3(BRCA1): c.470_471delCT (p.Ser157Terfs)deletionPathogenicrs80357887GRCh37Chr 17, 41251868: 41251869
246BRCA1NM_007294.3(BRCA1): c.4749_4750delAG (p.Arg1583Serfs)deletionPathogenicrs80357641GRCh37Chr 17, 41223181: 41223182
247BRCA1NM_007294.3(BRCA1): c.4868C> G (p.Ala1623Gly)SNVLikely pathogenic, Pathogenicrs80356862GRCh37Chr 17, 41223063: 41223063
248BRCA1NM_007294.3(BRCA1): c.4964_4982del19 (p.Ser1655Tyrfs)deletionPathogenicrs80359876GRCh37Chr 17, 41222949: 41222967
249BRCA1NM_007294.3(BRCA1): c.4986+1G> TSNVPathogenicrs80358162GRCh37Chr 17, 41222944: 41222944
250BRCA1NM_007294.3(BRCA1): c.4986+6T> CSNVLikely pathogenic, Pathogenicrs80358086GRCh37Chr 17, 41222939: 41222939
251BRCA1NM_007294.3(BRCA1): c.5030_5033delCTAA (p.Thr1677Ilefs)deletionPathogenicrs80357580GRCh37Chr 17, 41219666: 41219669
252BRCA1NM_007294.3(BRCA1): c.5035_5039delCTAAT (p.Leu1679Tyrfs)deletionPathogenicrs80357623GRCh37Chr 17, 41219660: 41219664
253BRCA1NM_007294.3(BRCA1): c.5068A> T (p.Lys1690Ter)SNVPathogenicrs397507239GRCh37Chr 17, 41219631: 41219631
254BRCA1NM_007294.3(BRCA1): c.5074+1G> ASNVPathogenicrs80358053GRCh37Chr 17, 41219624: 41219624
255BRCA1NM_007294.3(BRCA1): c.5074+1G> TSNVLikely pathogenic, Pathogenicrs80358053GRCh37Chr 17, 41219624: 41219624
256BRCA1NM_007294.3(BRCA1): c.5074G> A (p.Asp1692Asn)SNVLikely pathogenic, Pathogenicrs80187739GRCh37Chr 17, 41219625: 41219625
257BRCA1NM_007294.3(BRCA1): c.5074G> C (p.Asp1692His)SNVLikely pathogenic, Pathogenicrs80187739GRCh37Chr 17, 41219625: 41219625
258BRCA1NM_007294.3(BRCA1): c.5096G> A (p.Arg1699Gln)SNVLikely pathogenic, Pathogenicrs41293459GRCh37Chr 17, 41215947: 41215947
259BRCA1NM_007294.3(BRCA1): c.5117G> A (p.Gly1706Glu)SNVPathogenicrs80356860GRCh37Chr 17, 41215926: 41215926
260BRCA1NM_007294.3(BRCA1): c.5152+1G> CSNVPathogenicrs80358094GRCh37Chr 17, 41215890: 41215890
261BRCA1NM_007294.3(BRCA1): c.5153-1G> CSNVPathogenicrs80358137GRCh37Chr 17, 41215391: 41215391
262BRCA1NM_007294.3(BRCA1): c.5177_5180delGAAA (p.Arg1726Lysfs)deletionPathogenicrs80357867GRCh37Chr 17, 41215363: 41215366
263BRCA1NM_007294.3(BRCA1): c.5179A> T (p.Lys1727Ter)SNVPathogenicrs80357347GRCh37Chr 17, 41215364: 41215364
264BRCA1NM_007294.3(BRCA1): c.5194-2A> GSNVLikely pathogenic, Pathogenicrs80358069GRCh37Chr 17, 41209154: 41209154
265BRCA1NM_007294.3(BRCA1): c.5207T> C (p.Val1736Ala)SNVLikely pathogenic, Pathogenicrs45553935GRCh37Chr 17, 41209139: 41209139
266BRCA1NM_007294.3(BRCA1): c.5259delA (p.Glu1754Asnfs)deletionPathogenicrs80357925GRCh37Chr 17, 41209087: 41209087
267BRCA1NM_007294.3(BRCA1): c.5277+1G> ASNVPathogenicrs80358150GRCh37Chr 17, 41209068: 41209068
268BRCA1NM_007294.3(BRCA1): c.5289dupG (p.Leu1764Alafs)duplicationPathogenicrs80357886GRCh37Chr 17, 41203123: 41203123
269BRCA1NM_007294.3(BRCA1): c.5297T> G (p.Ile1766Ser)SNVPathogenicrs80357463GRCh37Chr 17, 41203115: 41203115
270BRCA1NM_007294.3(BRCA1): c.5335delC (p.Gln1779Asnfs)deletionPathogenicrs80357590GRCh37Chr 17, 41201209: 41201209
271BRCA1NM_007294.3(BRCA1): c.5346G> A (p.Trp1782Ter)SNVPathogenicrs80357284GRCh37Chr 17, 41201198: 41201198
272BRCA1NM_007294.3(BRCA1): c.5363G> T (p.Gly1788Val)SNVPathogenicrs80357069GRCh37Chr 17, 41201181: 41201181
273BRCA1NM_007294.3(BRCA1): c.5387C> A (p.Ser1796Ter)SNVPathogenicrs80357055GRCh37Chr 17, 41201157: 41201157
274BRCA1NM_007294.3(BRCA1): c.5406+5G> TSNVLikely pathogenic, Pathogenicrs80358073GRCh37Chr 17, 41201133: 41201133
275BRCA1NM_007294.3(BRCA1): c.5417delC (p.Pro1806Glnfs)deletionPathogenicrs80357558GRCh37Chr 17, 41199710: 41199710
276BRCA1NM_007294.3(BRCA1): c.5434C> G (p.Pro1812Ala)SNVLikely pathogenic, Pathogenicrs1800751GRCh37Chr 17, 41199693: 41199693
277BRCA1NM_007294.3(BRCA1): c.5453A> G (p.Asp1818Gly)SNVLikely pathogenic, Pathogenicrs80357477GRCh37Chr 17, 41199674: 41199674
278BRCA1NM_007294.3(BRCA1): c.5467+1G> ASNVLikely pathogenic, Pathogenicrs80358145GRCh37Chr 17, 41199659: 41199659
279BRCA1NM_007294.3(BRCA1): c.547+2T> ASNVPathogenicrs80358047GRCh37Chr 17, 41251790: 41251790
280BRCA1NM_007294.3(BRCA1): c.66dupA (p.Glu23Argfs)duplicationPathogenicrs80357783GRCh37Chr 17, 41276048: 41276048
281BRCA1NM_007294.3(BRCA1): c.676delT (p.Cys226Valfs)deletionPathogenicrs80357941GRCh37Chr 17, 41246872: 41246872
282BRCA1NM_007294.3(BRCA1): c.697_698delGT (p.Val233Asnfs)deletionPathogenicrs80357747GRCh37Chr 17, 41246850: 41246851
283BRCA1NM_007294.3(BRCA1): c.783T> G (p.Tyr261Ter)SNVPathogenicrs80357321GRCh37Chr 17, 41246765: 41246765
284BRCA1NM_007294.3(BRCA1): c.798_799delTT (p.Ser267Lysfs)deletionPathogenicrs80357724GRCh37Chr 17, 41246749: 41246750
285BRCA1NM_007294.3(BRCA1): c.85G> T (p.Glu29Ter)SNVPathogenicrs80357443GRCh37Chr 17, 41267792: 41267792
286BRCA1NM_007294.3(BRCA1): c.929delA (p.Gln310Argfs)deletionPathogenicrs80357844GRCh37Chr 17, 41246619: 41246619
287BRCA1NM_007294.3(BRCA1): c.952_1015del64 (p.His318Argfs)deletionPathogenicrs80359872GRCh37Chr 17, 41246533: 41246596
288BRCA1NM_007294.3(BRCA1): c.962G> A (p.Trp321Ter)SNVPathogenicrs80357292GRCh37Chr 17, 41246586: 41246586
289BRCA2NM_000059.3(BRCA2): c.274C> T (p.Gln92Ter)SNVPathogenicrs80358529GRCh37Chr 13, 32893420: 32893420
290BRCA2NM_000059.3(BRCA2): c.5035delA (p.Thr1679Leufs)deletionPathogenicrs80359477GRCh37Chr 13, 32913527: 32913527
291BRCA2NM_000059.3(BRCA2): c.5645C> A (p.Ser1882Ter)SNVPathogenicrs80358785GRCh37Chr 13, 32914137: 32914137
292BRCA2NM_000059.3(BRCA2): c.6405_6409delCTTAA (p.Asn2135Lysfs)deletionPathogenicrs80359584GRCh37Chr 13, 32914897: 32914901
293BRCA2NM_000059.3(BRCA2): c.6952C> T (p.Arg2318Ter)SNVPathogenicrs80358920GRCh37Chr 13, 32920978: 32920978
294BRCA2NM_000059.3(BRCA2): c.8297delC (p.Thr2766Asnfs)deletionPathogenicrs80359705GRCh37Chr 13, 32937636: 32937636
295BRCA2NM_000059.3(BRCA2): c.8322dupT (p.Met2775Tyrfs)duplicationPathogenicrs80359706GRCh37Chr 13, 32937661: 32937661
296BRCA2NM_000059.3(BRCA2): c.9097dupA (p.Thr3033Asnfs)duplicationPathogenicrs397507419GRCh37Chr 13, 32954030: 32954030
297BRCA2NM_000059.3(BRCA2): c.9294C> G (p.Tyr3098Ter)SNVPathogenicrs80359200GRCh37Chr 13, 32968863: 32968863
298BRCA2NM_000059.3(BRCA2): c.9401delG (p.Gly3134Alafs)deletionPathogenicrs80359759GRCh37Chr 13, 32968970: 32968970
299BRCA2NM_000059.3(BRCA2): c.9435_9436delGT (p.Ser3147Cysfs)deletionPathogenicrs80359763GRCh37Chr 13, 32969004: 32969005
300BRIP1NM_032043.2(BRIP1): c.2392C> T (p.Arg798Ter)SNVPathogenicrs137852986GRCh37Chr 17, 59793412: 59793412
301BRCA2NM_000059.3(BRCA2): c.1399A> T (p.Lys467Ter)SNVPathogenicrs80358427GRCh37Chr 13, 32907014: 32907014
302BRCA2NM_000059.3(BRCA2): c.1763A> G (p.Asn588Ser)SNVPathogenicrs373400041GRCh37Chr 13, 32907378: 32907378
303BRCA2NM_000059.3(BRCA2): c.4151delT (p.Leu1384Cysfs)deletionPathogenicrs397507710GRCh37Chr 13, 32912643: 32912643
304BRCA2NM_000059.3(BRCA2): c.5130_5133delTGTA (p.Tyr1710Terfs)deletionPathogenicrs80359484GRCh37Chr 13, 32913622: 32913625
305BRCA2NM_000059.3(BRCA2): c.6553delG (p.Ala2185Leufs)deletionPathogenicrs80359603GRCh37Chr 13, 32915045: 32915045
306BRCA2NM_000059.3(BRCA2): c.7558C> T (p.Arg2520Ter)SNVPathogenicrs80358981GRCh37Chr 13, 32930687: 32930687
307BRCA2NM_000059.3(BRCA2): c.9154C> T (p.Arg3052Trp)SNVPathogenicrs45580035GRCh37Chr 13, 32954180: 32954180
308BRCA2NM_000059.3(BRCA2): c.9382C> T (p.Arg3128Ter)SNVPathogenicrs80359212GRCh37Chr 13, 32968951: 32968951
309BRCA1NM_007294.3(BRCA1): c.1008dupA (p.Glu337Argfs)duplicationPathogenicrs67284603GRCh37Chr 17, 41246540: 41246540
310BRCA1NM_007294.3(BRCA1): c.1012A> T (p.Lys338Ter)SNVPathogenicrs397508826GRCh37Chr 17, 41246536: 41246536
311BRCA1NM_007294.3(BRCA1): c.1011dupA (p.Val340Glyfs)duplicationPathogenicrs80357569GRCh37Chr 17, 41246532: 41246532
312BRCA1NM_007294.3(BRCA1): c.101delC (p.Pro34Leufs)deletionPathogenicrs80357750GRCh37Chr 17, 41267776: 41267776
313BRCA1NM_007294.3(BRCA1): c.1039_1040delCT (p.Leu347Valfs)deletionPathogenicrs397508827GRCh37Chr 17, 41246508: 41246509
314BRCA1NM_007294.3(BRCA1): c.1045G> T (p.Glu349Ter)SNVPathogenicrs80357338GRCh37Chr 17, 41246503: 41246503
315BRCA1NM_007294.3(BRCA1): c.1054G> T (p.Glu352Ter)SNVPathogenicrs80357472GRCh37Chr 17, 41246494: 41246494
316BRCA1NM_007294.3(BRCA1): c.1058G> A (p.Trp353Ter)SNVPathogenicrs80356908GRCh37Chr 17, 41246490: 41246490
317BRCA1NM_007294.3(BRCA1): c.1059G> A (p.Trp353Ter)SNVPathogenicrs80356935GRCh37Chr 17, 41246489: 41246489
318BRCA1NM_007294.3(BRCA1): c.1066C> T (p.Gln356Ter)SNVPathogenicrs80357215GRCh37Chr 17, 41246482: 41246482
319BRCA1NM_007294.3(BRCA1): c.1067delA (p.Gln356Argfs)deletionPathogenicrs80357796GRCh37Chr 17, 41246481: 41246481
320BRCA1NM_007294.3(BRCA1): c.1068_1077delGAAACTGCCA (p.Gln356Hisfs)deletionPathogenicrs397508830GRCh37Chr 17, 41246471: 41246480
321BRCA1NM_007294.3(BRCA1): c.1072delC (p.Leu358Cysfs)deletionPathogenicrs80357836GRCh37Chr 17, 41246476: 41246476
322BRCA1NM_007294.3(BRCA1): c.1082C> G (p.Ser361Ter)SNVPathogenicrs397508833GRCh37Chr 17, 41246466: 41246466
323BRCA1NM_007294.3(BRCA1): c.1082_1092delCAGAGAATCCT (p.Ser361Terfs)deletionPathogenicrs80359880GRCh37Chr 17, 41246456: 41246466
324BRCA1NM_007294.3(BRCA1): c.1086_1087delGA (p.Asn363Serfs)deletionPathogenicrs80357897GRCh37Chr 17, 41246461: 41246462
325BRCA1NM_007294.3(BRCA1): c.1088delA (p.Asn363Ilefs)deletionPathogenicrs80357954GRCh37Chr 17, 41246460: 41246460
326BRCA1NM_007294.3(BRCA1): c.1091delC (p.Pro364Leufs)deletionPathogenicrs397508834GRCh37Chr 17, 41246457: 41246457
327BRCA1NM_007294.3(BRCA1): c.1102G> T (p.Glu368Ter)SNVPathogenicrs80357139GRCh37Chr 17, 41246446: 41246446
328BRCA1NM_007294.3(BRCA1): c.110C> A (p.Thr37Lys)SNVPathogenicrs80356880GRCh37Chr 17, 41267767: 41267767
329BRCA1NM_007294.3(BRCA1): c.1115G> A (p.Trp372Ter)SNVPathogenicrs397508838GRCh37Chr 17, 41246433: 41246433
330BRCA1NM_007294.3(BRCA1): c.1116G> A (p.Trp372Ter)SNVPathogenicrs80357468GRCh37Chr 17, 41246432: 41246432
331BRCA1NM_007294.3(BRCA1): c.1121_1123delCACinsT (p.Thr374Ilefs)indelPathogenicrs273897652GRCh37Chr 17, 41246425: 41246427
332BRCA1NM_007294.3(BRCA1): c.1127delA (p.Asn376Ilefs)deletionPathogenicrs80357821GRCh37Chr 17, 41246421: 41246421
333BRCA1NM_007294.3(BRCA1): c.112_113delAA (p.Lys38Valfs)deletionPathogenicrs80357949GRCh37Chr 17, 41267764: 41267765
334BRCA1NM_007294.3(BRCA1): c.1138C> T (p.Gln380Ter)SNVPathogenicrs397508840GRCh37Chr 17, 41246410: 41246410
335BRCA1NM_007294.3(BRCA1): c.1141A> T (p.Lys381Ter)SNVPathogenicrs80357385GRCh37Chr 17, 41246407: 41246407
336BRCA1NM_007294.3(BRCA1): c.1152dupG (p.Trp385Valfs)duplicationPathogenicrs397508841GRCh37Chr 17, 41246396: 41246396
337BRCA1NM_007294.3(BRCA1): c.115T> C (p.Cys39Arg)SNVPathogenicrs80357164GRCh37Chr 17, 41267762: 41267762
338BRCA1NM_007294.3(BRCA1): c.115T> G (p.Cys39Gly)SNVPathogenicrs80357164GRCh37Chr 17, 41267762: 41267762
339BRCA1NM_007294.3(BRCA1): c.1165delA (p.Ser389Valfs)deletionPathogenicrs80357985GRCh37Chr 17, 41246383: 41246383
340BRCA1NM_007294.3(BRCA1): c.1166delG (p.Ser389Metfs)deletionPathogenicrs273897653GRCh37Chr 17, 41246382: 41246382
341BRCA1NM_007294.3(BRCA1): c.117_118delTG (p.Cys39Terfs)deletionPathogenicrs80357972GRCh37Chr 17, 41267759: 41267760
342BRCA1NM_007294.3(BRCA1): c.1188delT (p.Asp396Glufs)deletionPathogenicrs397508845GRCh37Chr 17, 41246360: 41246360
343BRCA1NM_007294.3(BRCA1): c.1193C> G (p.Ser398Ter)SNVPathogenicrs80357068GRCh37Chr 17, 41246355: 41246355
344BRCA1NM_007294.3(BRCA1): c.1204G> T (p.Glu402Ter)SNVPathogenicrs273897655GRCh37Chr 17, 41246344: 41246344
345BRCA1NM_007294.3(BRCA1): c.1204delG (p.Glu402Serfs)deletionPathogenicrs80357859GRCh37Chr 17, 41246344: 41246344
346BRCA1NM_007294.3(BRCA1): c.1214C> A (p.Ser405Ter)SNVPathogenicrs80357481GRCh37Chr 17, 41246334: 41246334
347BRCA1NM_007294.3(BRCA1): c.122A> G (p.His41Arg)SNVPathogenicrs80357276GRCh37Chr 17, 41267755: 41267755
348BRCA1NM_007294.3(BRCA1): c.1232_1233delAT (p.Asp411Glyfs)deletionPathogenicrs397508848GRCh37Chr 17, 41246315: 41246316
349BRCA1NM_007294.3(BRCA1): c.1240_1246delGACGTTC (p.Asp414Terfs)deletionPathogenicrs80357964GRCh37Chr 17, 41246302: 41246308
350BRCA1NM_007294.3(BRCA1): c.1241dupA (p.Asp414Glufs)duplicationPathogenicrs80357514GRCh37Chr 17, 41246307: 41246307
351BRCA1NM_007294.3(BRCA1): c.124delA (p.Ile42Tyrfs)deletionPathogenicrs80357943GRCh37Chr 17, 41267753: 41267753
352BRCA1NM_007294.3(BRCA1): c.1252G> T (p.Glu418Ter)SNVPathogenicrs80357083GRCh37Chr 17, 41246296: 41246296
353BRCA1NM_007294.3(BRCA1): c.1255delG (p.Val419Terfs)deletionPathogenicrs80357535GRCh37Chr 17, 41246293: 41246293
354BRCA1NM_007294.3(BRCA1): c.1265dupA (p.Tyr422Terfs)duplicationPathogenicrs80357809GRCh37Chr 17, 41246283: 41246283
355BRCA1NM_007294.3(BRCA1): c.1266T> G (p.Tyr422Ter)SNVPathogenicrs80357417GRCh37Chr 17, 41246282: 41246282
356BRCA1NM_007294.3(BRCA1): c.1276delT (p.Ser426Glnfs)deletionPathogenicrs80357766GRCh37Chr 17, 41246272: 41246272
357BRCA1NM_007294.3(BRCA1): c.1287dupA (p.Asp430Argfs)duplicationPathogenicrs80357576GRCh37Chr 17, 41246261: 41246261
358BRCA1NM_007294.3(BRCA1): c.1292T> G (p.Leu431Ter)SNVPathogenicrs80357346GRCh37Chr 17, 41246256: 41246256
359BRCA1NM_007294.3(BRCA1): c.1292dupT (p.Leu431Phefs)duplicationPathogenicrs80357528GRCh37Chr 17, 41246256: 41246256
360BRCA1NM_007294.3(BRCA1): c.1297delG (p.Ala433Profs)deletionPathogenicrs80357794GRCh37Chr 17, 41246251: 41246251
361BRCA1NM_007294.3(BRCA1): c.130T> A (p.Cys44Ser)SNVPathogenicrs80357327GRCh37Chr 17, 41267747: 41267747
362BRCA1NM_007294.3(BRCA1): c.130delT (p.Cys44Alafs)deletionPathogenicrs80357951GRCh37Chr 17, 41267747: 41267747
363BRCA1NM_007294.3(BRCA1): c.1319delT (p.Leu440Terfs)deletionPathogenicrs80357683GRCh37Chr 17, 41246229: 41246229
364BRCA1NM_007294.3(BRCA1): c.131G> A (p.Cys44Tyr)SNVPathogenicrs80357446GRCh37Chr 17, 41267746: 41267746
365BRCA1NM_007294.3(BRCA1): c.131G> T (p.Cys44Phe)SNVLikely pathogenic, Pathogenicrs80357446GRCh37Chr 17, 41267746: 41267746
366BRCA1NM_007294.3(BRCA1): c.1323_1324delAT (p.Ile441Metfs)deletionPathogenicrs80357570GRCh37Chr 17, 41246224: 41246225
367BRCA1NM_007294.3(BRCA1): c.1326T> A (p.Cys442Ter)SNVPathogenicrs397508854GRCh37Chr 17, 41246222: 41246222
368BRCA1NM_007294.3(BRCA1): c.1333G> T (p.Glu445Ter)SNVPathogenicrs80356915GRCh37Chr 17, 41246215: 41246215
369BRCA1NM_007294.3(BRCA1): c.1335_1336delAA (p.Arg446Serfs)deletionPathogenicrs80357978GRCh37Chr 17, 41246212: 41246213
370BRCA1NM_007294.3(BRCA1): c.133_134+3delAAGTAinsTindelPathogenicrs397508856GRCh37Chr 17, 41267740: 41267744
371BRCA1NM_007294.3(BRCA1): c.133_134delAA (p.Lys45Ilefs)deletionPathogenicrs397508857GRCh37Chr 17, 41267743: 41267744
372BRCA1NM_007294.3(BRCA1): c.134+1G> TSNVPathogenicrs80358043GRCh37Chr 17, 41267742: 41267742
373BRCA1NM_007294.3(BRCA1): c.134+2T> GSNVPathogenicrs80358131GRCh37Chr 17, 41267741: 41267741
374BRCA1NM_007294.3(BRCA1): c.134+3_134+6delAAGTdeletionPathogenicrs397508858GRCh37Chr 17, 41267737: 41267740
375BRCA1NM_007294.3(BRCA1): c.135-1G> CSNVPathogenicrs80358158GRCh37Chr 17, 41258551: 41258551
376BRCA1NM_007294.3(BRCA1): c.1352C> A (p.Ser451Ter)SNVPathogenicrs80356891GRCh37Chr 17, 41246196: 41246196
377BRCA1NM_007294.3(BRCA1): c.1352C> G (p.Ser451Ter)SNVPathogenicrs80356891GRCh37Chr 17, 41246196: 41246196
378BRCA1NM_007294.3(BRCA1): c.1371delA (p.Asp458Thrfs)deletionPathogenicrs397508861GRCh37Chr 17, 41246177: 41246177
379BRCA1NM_007294.3(BRCA1): c.1374delC (p.Asp458Glufs)deletionPathogenicrs397508862GRCh37Chr 17, 41246174: 41246174
380BRCA1NM_007294.3(BRCA1): c.1380dupA (p.Phe461Ilefs)duplicationPathogenicrs80357714GRCh37Chr 17, 41246168: 41246168
381BRCA1NM_007294.3(BRCA1): c.1383delT (p.Phe461Leufs)deletionPathogenicrs80357879GRCh37Chr 17, 41246165: 41246165
382BRCA1NM_007294.3(BRCA1): c.1386delG (p.Thr464Profs)deletionPathogenicrs80357722GRCh37Chr 17, 41246162: 41246162
383BRCA1NM_007294.3(BRCA1): c.1386dupG (p.Lys463Glufs)duplicationPathogenicrs397508865GRCh37Chr 17, 41246162: 41246162
384BRCA1NM_007294.3(BRCA1): c.1390delA (p.Thr464Profs)deletionPathogenicrs80357770GRCh37Chr 17, 41246158: 41246158
385BRCA1NM_007294.3(BRCA1): c.1392delC (p.Tyr465Ilefs)deletionPathogenicrs397508868GRCh37Chr 17, 41246156: 41246156
386BRCA1NM_007294.3(BRCA1): c.1399A> T (p.Lys467Ter)SNVPathogenicrs80357279GRCh37Chr 17, 41246149: 41246149
387BRCA1NM_007294.3(BRCA1): c.1403delA (p.Lys468Argfs)deletionPathogenicrs397508870GRCh37Chr 17, 41246145: 41246145
388BRCA1NM_007294.3(BRCA1): c.1405delG (p.Ala469Glnfs)deletionPathogenicrs397508871GRCh37Chr 17, 41246143: 41246143
389BRCA1NM_007294.3(BRCA1): c.140G> A (p.Cys47Tyr)SNVPathogenicrs80357150GRCh37Chr 17, 41258545: 41258545
390BRCA1NM_007294.3(BRCA1): c.140G> T (p.Cys47Phe)SNVLikely pathogenic, Pathogenicrs80357150GRCh37Chr 17, 41258545: 41258545
391BRCA1NM_007294.3(BRCA1): c.1421T> G (p.Leu474Ter)SNVPathogenicrs80357490GRCh37Chr 17, 41246127: 41246127
392BRCA1NM_007294.3(BRCA1): c.1439dupA (p.Asn480Lysfs)duplicationPathogenicrs80357505GRCh37Chr 17, 41246109: 41246109
393BRCA1NM_007294.3(BRCA1): c.1444delA (p.Ile482Leufs)deletionPathogenicrs80357648GRCh37Chr 17, 41246104: 41246104
394BRCA1NM_007294.3(BRCA1): c.144delG (p.Met48Ilefs)deletionPathogenicrs80357682GRCh37Chr 17, 41258541: 41258541
395BRCA1NM_007294.3(BRCA1): c.1450G> T (p.Gly484Ter)SNVPathogenicrs80357304GRCh37Chr 17, 41246098: 41246098
396BRCA1NM_007294.3(BRCA1): c.1465G> T (p.Glu489Ter)SNVPathogenicrs80357167GRCh37Chr 17, 41246083: 41246083
397BRCA1NM_007294.3(BRCA1): c.1471C> T (p.Gln491Ter)SNVPathogenicrs62625303GRCh37Chr 17, 41246077: 41246077
398BRCA1NM_007294.3(BRCA1): c.1483_1498del16 (p.Glu495Ilefs)deletionPathogenicrs397508872GRCh37Chr 17, 41246050: 41246065
399BRCA1NM_007294.3(BRCA1): c.1492delC (p.Leu498Serfs)deletionPathogenicrs80357527GRCh37Chr 17, 41246056: 41246056
400BRCA1NM_007294.3(BRCA1): c.1499delA (p.Asn500Ilefs)deletionPathogenicrs397508874GRCh37Chr 17, 41246049: 41246049
401BRCA1NM_007294.3(BRCA1): c.1508delA (p.Lys503Serfs)deletionPathogenicrs80357506GRCh37Chr 17, 41246040: 41246040
402BRCA1NM_007294.3(BRCA1): c.150delA (p.Lys50Asnfs)deletionPathogenicrs273897662GRCh37Chr 17, 41258535: 41258535
403BRCA1NM_007294.3(BRCA1): c.1511dupG (p.Lys505Terfs)duplicationPathogenicrs80357817GRCh37Chr 17, 41246037: 41246037
404BRCA1NM_007294.3(BRCA1): c.1513A> T (p.Lys505Ter)SNVPathogenicrs397508877GRCh37Chr 17, 41246035: 41246035
405BRCA1NM_007294.3(BRCA1): c.1513_1514insT (p.Lys505Ilefs)insertionPathogenicrs397508878GRCh37Chr 17, 41246034: 41246035
406BRCA1NM_007294.3(BRCA1): c.1523delC (p.Pro508Leufs)deletionPathogenicrs80357782GRCh37Chr 17, 41246025: 41246025
407BRCA1NM_007294.3(BRCA1): c.1529C> G (p.Ser510Ter)SNVPathogenicrs80357427GRCh37Chr 17, 41246019: 41246019
408BRCA1NM_007294.3(BRCA1): c.1530delA (p.Gly511Alafs)deletionPathogenicrs80357735GRCh37Chr 17, 41246018: 41246018
409BRCA1NM_007294.3(BRCA1): c.1551delT (p.Phe517Leufs)deletionPathogenicrs80357630GRCh37Chr 17, 41245997: 41245997
410BRCA1NM_007294.3(BRCA1): c.1576C> T (p.Gln526Ter)SNVPathogenicrs80356984GRCh37Chr 17, 41245972: 41245972
411BRCA1NM_007294.3(BRCA1): c.1583_1589delCTCCTGA (p.Thr528Lysfs)deletionPathogenicrs80357613GRCh37Chr 17, 41245959: 41245965
412BRCA1NM_007294.3(BRCA1): c.1600C> T (p.Gln534Ter)SNVPathogenicrs142074233GRCh37Chr 17, 41245948: 41245948
413BRCA1NM_007294.3(BRCA1): c.1601dupA (p.Thr536Asnfs)duplicationPathogenicrs397508889GRCh37Chr 17, 41245947: 41245947
414BRCA1NM_007294.3(BRCA1): c.1608_1611delTAAC (p.Asn537Lysfs)deletionPathogenicrs80357698GRCh37Chr 17, 41245937: 41245940
415BRCA1NM_007294.3(BRCA1): c.160C> T (p.Gln54Ter)SNVPathogenicrs80356864GRCh37Chr 17, 41258525: 41258525
416BRCA1NM_007294.3(BRCA1): c.1612C> T (p.Gln538Ter)SNVPathogenicrs80356893GRCh37Chr 17, 41245936: 41245936
417BRCA1NM_007294.3(BRCA1): c.1621C> T (p.Gln541Ter)SNVPathogenicrs80356904GRCh37Chr 17, 41245927: 41245927
418BRCA1NM_007294.3(BRCA1): c.1623dupG (p.Asn542Glufs)duplicationPathogenicrs397508891GRCh37Chr 17, 41245925: 41245925
419BRCA1NM_007294.3(BRCA1): c.1630C> T (p.Gln544Ter)SNVPathogenicrs80356952GRCh37Chr 17, 41245918: 41245918
420BRCA1NM_007294.3(BRCA1): c.1636_1654del19 (p.Met546Valfs)deletionPathogenicrs80359881GRCh37Chr 17, 41245894: 41245912
421BRCA1NM_007294.3(BRCA1): c.1649delA (p.Asn550Ilefs)deletionPathogenicrs80357619GRCh37Chr 17, 41245899: 41245899
422BRCA1NM_007294.3(BRCA1): c.1673_1674delAA (p.Lys558Argfs)deletionPathogenicrs397508896GRCh37Chr 17, 41245874: 41245875
423BRCA1NM_007294.3(BRCA1): c.1713_1717delAGAAT (p.Glu572Thrfs)deletionPathogenicrs80357640GRCh37Chr 17, 41245831: 41245835
424BRCA1NM_007294.3(BRCA1): c.1716delA (p.Glu572Aspfs)deletionPathogenicrs397508900GRCh37Chr 17, 41245832: 41245832
425BRCA1NM_007294.3(BRCA1): c.1729G> T (p.Glu577Ter)SNVPathogenicrs397508903GRCh37Chr 17, 41245819: 41245819
426BRCA1NM_007294.3(BRCA1): c.1729_1730delGA (p.Glu577Ilefs)deletionPathogenicrs80357834GRCh37Chr 17, 41245818: 41245819
427BRCA1NM_007294.3(BRCA1): c.1747A> T (p.Lys583Ter)SNVPathogenicrs80356928GRCh37Chr 17, 41245801: 41245801
428BRCA1NM_007294.3(BRCA1): c.1757delC (p.Pro586Leufs)deletionPathogenicrs80357723GRCh37Chr 17, 41245791: 41245791
429BRCA1NM_007294.3(BRCA1): c.1772delT (p.Ile591Lysfs)deletionPathogenicrs80357901GRCh37Chr 17, 41245776: 41245776
430BRCA1NM_007294.3(BRCA1): c.1789G> T (p.Glu597Ter)SNVPathogenicrs55650082GRCh37Chr 17, 41245759: 41245759
431BRCA1NM_007294.3(BRCA1): c.178C> T (p.Gln60Ter)SNVPathogenicrs80357471GRCh37Chr 17, 41258507: 41258507
432BRCA1NM_007294.3(BRCA1): c.1793T> A (p.Leu598Ter)SNVPathogenicrs80357118GRCh37Chr 17, 41245755: 41245755
433BRCA1NM_007294.3(BRCA1): c.1793T> G (p.Leu598Ter)SNVPathogenicrs80357118GRCh37Chr 17, 41245755: 41245755
434BRCA1NM_007294.3(BRCA1): c.179delA (p.Gln60Argfs)deletionPathogenicrs80357591GRCh37Chr 17, 41258506: 41258506
435BRCA1NM_007294.3(BRCA1): c.1805delA (p.Asn602Ilefs)deletionPathogenicrs397508908GRCh37Chr 17, 41245743: 41245743
436BRCA1NM_007294.3(BRCA1): c.1808C> G (p.Ser603Ter)SNVPathogenicrs397508909GRCh37Chr 17, 41245740: 41245740
437BRCA1NM_007294.3(BRCA1): c.1819A> T (p.Lys607Ter)SNVPathogenicrs80357220GRCh37Chr 17, 41245729: 41245729
438BRCA1NM_007294.3(BRCA1): c.181T> A (p.Cys61Ser)SNVPathogenicrs28897672GRCh37Chr 17, 41258504: 41258504
439BRCA1NM_007294.3(BRCA1): c.1823_1826delAGAA (p.Lys608Ilefs)deletionPathogenicrs80357585GRCh37Chr 17, 41245722: 41245725
440BRCA1NM_007294.3(BRCA1): c.1823delA (p.Lys608Argfs)deletionPathogenicrs397508911GRCh37Chr 17, 41245725: 41245725
441BRCA1NM_007294.3(BRCA1): c.182_183delGT (p.Cys61Serfs)deletionPathogenicrs397508912GRCh37Chr 17, 41258502: 41258503
442BRCA1NM_007294.3(BRCA1): c.1831delC (p.Leu611Terfs)deletionPathogenicrs397508913GRCh37Chr 17, 41245717: 41245717
443BRCA1NM_007294.3(BRCA1): c.1837delA (p.Arg613Glyfs)deletionPathogenicrs80357652GRCh37Chr 17, 41245711: 41245711
444BRCA1NM_007294.3(BRCA1): c.1840A> T (p.Lys614Ter)SNVPathogenicrs80357282GRCh37Chr 17, 41245708: 41245708
445BRCA1NM_007294.3(BRCA1): c.1870G> T (p.Glu624Ter)SNVPathogenicrs80356950GRCh37Chr 17, 41245678: 41245678
446BRCA1NM_007294.3(BRCA1): c.1874_1877dupTAGT (p.Val627Serfs)duplicationPathogenicrs80357516GRCh37Chr 17, 41245671: 41245674
447BRCA1NM_007294.3(BRCA1): c.1881_1884delCAGT (p.Ser628Glufs)deletionPathogenicrs80357567GRCh37Chr 17, 41245664: 41245667
448BRCA1NM_007294.3(BRCA1): c.188T> A (p.Leu63Ter)SNVPathogenicrs80357086GRCh37Chr 17, 41258497: 41258497
449BRCA1NM_007294.3(BRCA1): c.1892dupT (p.Ser632Lysfs)duplicationPathogenicrs80357932GRCh37Chr 17, 41245656: 41245656
450BRCA1NM_007294.3(BRCA1): c.1898delC (p.Pro633Hisfs)deletionPathogenicrs80357851GRCh37Chr 17, 41245650: 41245650
451BRCA1NM_007294.3(BRCA1): c.189dupA (p.Cys64Metfs)duplicationPathogenicrs273897665GRCh37Chr 17, 41258496: 41258496
452BRCA1NM_007294.3(BRCA1): c.1906delT (p.Cys636Valfs)deletionPathogenicrs397508916GRCh37Chr 17, 41245642: 41245642
453BRCA1NM_007294.3(BRCA1): c.1912G> T (p.Glu638Ter)SNVPathogenicrs80357005GRCh37Chr 17, 41245636: 41245636
454BRCA1NM_007294.3(BRCA1): c.1912delG (p.Glu638Asnfs)deletionPathogenicrs80357933GRCh37Chr 17, 41245636: 41245636
455BRCA1NM_007294.3(BRCA1): c.1916T> A (p.Leu639Ter)SNVPathogenicrs80357267GRCh37Chr 17, 41245632: 41245632
456BRCA1NM_007294.3(BRCA1): c.191G> A (p.Cys64Tyr)SNVPathogenicrs55851803GRCh37Chr 17, 41258494: 41258494
457BRCA1NM_007294.3(BRCA1): c.1936delA (p.Ser646Alafs)deletionPathogenicrs397508919GRCh37Chr 17, 41245612: 41245612
458BRCA1NM_007294.3(BRCA1): c.1938_1947delCAGTGAAGAG (p.Ser646Argfs)deletionPathogenicrs397508920GRCh37Chr 17, 41245601: 41245610
459BRCA1NM_007294.3(BRCA1): c.1945G> T (p.Glu649Ter)SNVPathogenicrs80356907GRCh37Chr 17, 41245603: 41245603
460BRCA1NM_007294.3(BRCA1): c.1949_1950delTA (p.Ile650Lysfs)deletionPathogenicrs397508921GRCh37Chr 17, 41245598: 41245599
461BRCA1NM_007294.3(BRCA1): c.1952delA (p.Lys651Argfs)deletionPathogenicrs397508922GRCh37Chr 17, 41245596: 41245596
462BRCA1NM_007294.3(BRCA1): c.1952dupA (p.Lys652Glufs)duplicationPathogenicrs80357885GRCh37Chr 17, 41245596: 41245596
463BRCA1NM_007294.3(BRCA1): c.1953dupG (p.Lys652Glufs)duplicationPathogenicrs80357753GRCh37Chr 17, 41245595: 41245595
464BRCA1NM_007294.3(BRCA1): c.1958_1961delAAAA (p.Lys653Serfs)deletionPathogenicrs397508923GRCh37Chr 17, 41245587: 41245590
465BRCA1NM_007294.3(BRCA1): c.195delG (p.Asn66Metfs)deletionPathogenicrs80357869GRCh37Chr 17, 41258490: 41258490
466BRCA1NM_007294.3(BRCA1): c.1960_1961delAA (p.Lys654Valfs)deletionPathogenicrs80357643GRCh37Chr 17, 41245587: 41245588
467BRCA1NM_007294.3(BRCA1): c.1961dupA (p.Tyr655Valfs)duplicationPathogenicrs80357853GRCh37Chr 17, 41245587: 41245587
468BRCA1NM_007294.3(BRCA1): c.1963_1964insG (p.Tyr655Terfs)insertionPathogenicrs397508924GRCh37Chr 17, 41245584: 41245585
469BRCA1NM_007294.3(BRCA1): c.1969C> T (p.Gln657Ter)SNVPathogenicrs397508926GRCh37Chr 17, 41245579: 41245579
470BRCA1NM_007294.3(BRCA1): c.1996delC (p.Leu666Tyrfs)deletionPathogenicrs80357922GRCh37Chr 17, 41245552: 41245552
471BRCA1NM_007294.3(BRCA1): c.1999C> T (p.Gln667Ter)SNVPathogenicrs80356889GRCh37Chr 17, 41245549: 41245549
472BRCA1NM_007294.3(BRCA1): c.1A> G (p.Met1Val)SNVPathogenicrs80357287GRCh37Chr 17, 41276113: 41276113
473BRCA1NM_007294.3(BRCA1): c.2014A> T (p.Lys672Ter)SNVPathogenicrs397508929GRCh37Chr 17, 41245534: 41245534
474BRCA1NM_007294.3(BRCA1): c.2017G> T (p.Glu673Ter)SNVPathogenicrs80357391GRCh37Chr 17, 41245531: 41245531
475BRCA1NM_007294.3(BRCA1): c.2017delG (p.Glu673Asnfs)deletionPathogenicrs80357638GRCh37Chr 17, 41245531: 41245531
476BRCA1NM_007294.3(BRCA1): c.2019delA (p.Glu673Aspfs)deletionPathogenicrs80357626GRCh37Chr 17, 41245529: 41245529
477BRCA1NM_007294.3(BRCA1): c.2035A> T (p.Lys679Ter)SNVPathogenicrs80357082GRCh37Chr 17, 41245513: 41245513
478BRCA1NM_007294.3(BRCA1): c.2037delGinsCC (p.Lys679Asnfs)indelPathogenicrs397508932GRCh37Chr 17, 41245511: 41245511
479BRCA1NM_007294.3(BRCA1): c.2059C> T (p.Gln687Ter)SNVPathogenicrs273898674GRCh37Chr 17, 41245489: 41245489
480BRCA1NM_007294.3(BRCA1): c.2063_2066delCAAG (p.Thr688Ilefs)deletionPathogenicrs397508935GRCh37Chr 17, 41245482: 41245485
481BRCA1NM_007294.3(BRCA1): c.2074delC (p.His692Metfs)deletionPathogenicrs80357554GRCh37Chr 17, 41245474: 41245474
482BRCA1NM_007294.3(BRCA1): c.2079_2080delCA (p.Asp693Glufs)deletionPathogenicrs80357773GRCh37Chr 17, 41245468: 41245469
483BRCA1NM_007294.3(BRCA1): c.2105T> G (p.Leu702Ter)SNVPathogenicrs80357298GRCh37Chr 17, 41245443: 41245443
484BRCA1NM_007294.3(BRCA1): c.2110_2111delAA (p.Asn704Cysfs)deletionPathogenicrs80357814GRCh37Chr 17, 41245437: 41245438
485BRCA1NM_007294.3(BRCA1): c.212+1G> CSNVPathogenicrs80358042GRCh37Chr 17, 41258472: 41258472
486BRCA1NM_007294.3(BRCA1): c.212+1G> TSNVPathogenicrs80358042GRCh37Chr 17, 41258472: 41258472
487BRCA1NM_007294.3(BRCA1): c.212+2T> CSNVPathogenicrs80358026GRCh37Chr 17, 41258471: 41258471
488BRCA1NM_007294.3(BRCA1): c.212+3A> GSNVPathogenicrs80358083GRCh37Chr 17, 41258470: 41258470
489BRCA1NM_007294.3(BRCA1): c.2125_2126insA (p.Phe709Tyrfs)insertionPathogenicrs80357871GRCh37Chr 17, 41245422: 41245423
490BRCA1NM_007294.3(BRCA1): c.2126_2127delTT (p.Phe709Tyrfs)deletionPathogenicrs397508939GRCh37Chr 17, 41245421: 41245422
491BRCA1NM_007294.3(BRCA1): c.212G> A (p.Arg71Lys)SNVPathogenicrs80356913GRCh37Chr 17, 41258473: 41258473
492BRCA1NM_007294.3(BRCA1): c.213-1G> ASNVPathogenicrs80358146GRCh37Chr 17, 41256974: 41256974
493BRCA1NM_007294.3(BRCA1): c.213-2A> CSNVPathogenicrs397508940GRCh37Chr 17, 41256975: 41256975
494BRCA1NM_007294.3(BRCA1): c.2142delT (p.Asn714Lysfs)deletionPathogenicrs273898679GRCh37Chr 17, 41245406: 41245406
495BRCA1NM_007294.3(BRCA1): c.2155A> T (p.Lys719Ter)SNVPathogenicrs80357147GRCh37Chr 17, 41245393: 41245393
496BRCA1NM_007294.3(BRCA1): c.2155_2168delAAAGAATTTGTCAA (p.Lys719Serfs)deletionPathogenicrs397508941GRCh37Chr 17, 41245380: 41245393
497BRCA1NM_007294.3(BRCA1): c.2157dupA (p.Glu720Argfs)duplicationPathogenicrs80357715GRCh37Chr 17, 41245391: 41245391
498BRCA1NM_007294.3(BRCA1): c.2176_2177delCT (p.Leu726Serfs)deletionPathogenicrs397508945GRCh37Chr 17, 41245371: 41245372
499BRCA1NM_007294.3(BRCA1): c.2176delC (p.Leu726Phefs)deletionPathogenicrs80357668GRCh37Chr 17, 41245372: 41245372
500BRCA1NM_007294.3(BRCA1): c.2188G> T (p.Glu730Ter)SNVPathogenicrs80357058GRCh37Chr 17, 41245360: 41245360
501BRCA1NM_007294.3(BRCA1): c.2188_2201delGAAAAAGAAGAGAA (p.Glu730Thrfs)deletionPathogenicrs273898681GRCh37Chr 17, 41245347: 41245360
502BRCA1NM_007294.3(BRCA1): c.2192_2196delAAGAA (p.Lys731Argfs)deletionPathogenicrs397508946GRCh37Chr 17, 41245352: 41245356
503BRCA1NM_007294.3(BRCA1): c.2194G> T (p.Glu732Ter)SNVPathogenicrs80357426GRCh37Chr 17, 41245354: 41245354
504BRCA1NM_007294.3(BRCA1): c.2197G> T (p.Glu733Ter)SNVPathogenicrs397508949GRCh37Chr 17, 41245351: 41245351
505BRCA1NM_007294.3(BRCA1): c.2197_2201delGAGAA (p.Glu733Thrfs)deletionPathogenicrs80357507GRCh37Chr 17, 41245347: 41245351
506BRCA1NM_007294.3(BRCA1): c.2202delA (p.Lys734Asnfs)deletionPathogenicrs80357982GRCh37Chr 17, 41245346: 41245346
507BRCA1NM_007294.3(BRCA1): c.2203delC (p.Leu735Terfs)deletionPathogenicrs80357936GRCh37Chr 17, 41245345: 41245345
508BRCA1NM_007294.3(BRCA1): c.2206delG (p.Glu736Lysfs)deletionPathogenicrs80357860GRCh37Chr 17, 41245342: 41245342
509BRCA1NM_007294.3(BRCA1): c.220C> T (p.Gln74Ter)SNVPathogenicrs80357234GRCh37Chr 17, 41256966: 41256966
510BRCA1NM_007294.3(BRCA1): c.2210delC (p.Thr737Lysfs)deletionPathogenicrs80357793GRCh37Chr 17, 41245338: 41245338
511BRCA1NM_007294.3(BRCA1): c.2212_2215delGTTA (p.Val738Lysfs)deletionPathogenicrs397508951GRCh37Chr 17, 41245333: 41245336
512BRCA1NM_007294.3(BRCA1): c.2215A> T (p.Lys739Ter)SNVPathogenicrs56329598GRCh37Chr 17, 41245333: 41245333
513BRCA1NM_007294.3(BRCA1): c.2216_2217delAA (p.Lys739Serfs)deletionPathogenicrs397508952GRCh37Chr 17, 41245331: 41245332
514BRCA1NM_007294.3(BRCA1): c.2236dupG (p.Asp746Glyfs)duplicationPathogenicrs80357909GRCh37Chr 17, 41245312: 41245312
515BRCA1NM_007294.3(BRCA1): c.2241delC (p.Asp749Ilefs)deletionPathogenicrs80357650GRCh37Chr 17, 41245307: 41245307
516BRCA1NM_007294.3(BRCA1): c.2241dupC (p.Lys748Glnfs)duplicationPathogenicrs397508953GRCh37Chr 17, 41245307: 41245307
517BRCA1NM_007294.3(BRCA1): c.2248_2252delCTCAT (p.Leu750Valfs)deletionPathogenicrs397508954GRCh37Chr 17, 41245296: 41245300
518BRCA1NM_007294.3(BRCA1): c.224_227delAAAG (p.Glu75Valfs)deletionPathogenicrs80357697GRCh37Chr 17, 41256959: 41256962
519BRCA1NM_007294.3(BRCA1): c.2253_2254delGT (p.Met751Ilefs)deletionPathogenicrs80357602GRCh37Chr 17, 41245294: 41245295
520BRCA1NM_007294.3(BRCA1): c.2263G> T (p.Glu755Ter)SNVPathogenicrs41286296GRCh37Chr 17, 41245285: 41245285
521BRCA1NM_007294.3(BRCA1): c.2263delG (p.Glu755Lysfs)deletionPathogenicrs80357960GRCh37Chr 17, 41245285: 41245285
522BRCA1NM_007294.3(BRCA1): c.2275C> T (p.Gln759Ter)SNVPathogenicrs80356999GRCh37Chr 17, 41245273: 41245273
523BRCA1NM_007294.3(BRCA1): c.2283_2284delAA (p.Arg762Ilefs)deletionPathogenicrs80357657GRCh37Chr 17, 41245264: 41245265
524BRCA1NM_007294.3(BRCA1): c.2292_2310dup19 (p.Leu771Argfs)duplicationPathogenicrs397508955GRCh37Chr 17, 41245238: 41245256
525BRCA1NM_007294.3(BRCA1): c.2293G> T (p.Glu765Ter)SNVPathogenicrs80357449GRCh37Chr 17, 41245255: 41245255
526BRCA1NM_007294.3(BRCA1): c.2309C> A (p.Ser770Ter)SNVPathogenicrs80357063GRCh37Chr 17, 41245239: 41245239
527BRCA1NM_007294.3(BRCA1): c.2314delG (p.Val772Tyrfs)deletionPathogenicrs80357957GRCh37Chr 17, 41245234: 41245234
528BRCA1NM_007294.3(BRCA1): c.2329delT (p.Tyr777Metfs)deletionPathogenicrs80357725GRCh37Chr 17, 41245219: 41245219
529BRCA1NM_007294.3(BRCA1): c.232delA (p.Arg78Aspfs)deletionPathogenicrs80357884GRCh37Chr 17, 41256954: 41256954
530BRCA1NM_007294.3(BRCA1): c.2331T> A (p.Tyr777Ter)SNVPathogenicrs80357444GRCh37Chr 17, 41245217: 41245217
531BRCA1NM_007294.3(BRCA1): c.2338C> T (p.Gln780Ter)SNVPathogenicrs80356945GRCh37Chr 17, 41245210: 41245210
532BRCA1NM_007294.3(BRCA1): c.2350_2351delTC (p.Ser784Valfs)deletionPathogenicrs397508960GRCh37Chr 17, 41245197: 41245198
533BRCA1NM_007294.3(BRCA1): c.2351_2357delCGTTACT (p.Ser784Trpfs)deletionPathogenicrs80357820GRCh37Chr 17, 41245191: 41245197
534BRCA1NM_007294.3(BRCA1): c.2354T> A (p.Leu785Ter)SNVPathogenicrs397508961GRCh37Chr 17, 41245194: 41245194
535BRCA1NM_007294.3(BRCA1): c.2357delT (p.Leu786Argfs)deletionPathogenicrs397508963GRCh37Chr 17, 41245191: 41245191
536BRCA1NM_007294.3(BRCA1): c.2359delG (p.Glu787Lysfs)deletionPathogenicrs397508964GRCh37Chr 17, 41245189: 41245189
537BRCA1NM_007294.3(BRCA1): c.2359dupG (p.Glu787Glyfs)duplicationPathogenicrs80357739GRCh37Chr 17, 41245189: 41245189
538BRCA1NM_007294.3(BRCA1): c.2389_2390delGA (p.Glu797Thrfs)deletionPathogenicrs80357695GRCh37Chr 17, 41245158: 41245159
539BRCA1NM_007294.3(BRCA1): c.2390_2391delAA (p.Glu797Alafs)deletionPathogenicrs80357546GRCh37Chr 17, 41245157: 41245158
540BRCA1NM_007294.3(BRCA1): c.2393delC (p.Pro798Glnfs)deletionPathogenicrs80357850GRCh37Chr 17, 41245155: 41245155
541BRCA1NM_007294.3(BRCA1): c.2403T> A (p.Cys801Ter)SNVPathogenicrs80357381GRCh37Chr 17, 41245145: 41245145
542BRCA1NM_007294.3(BRCA1): c.2405_2406delTG (p.Val802Glufs)deletionPathogenicrs80357706GRCh37Chr 17, 41245142: 41245143
543BRCA1NM_007294.3(BRCA1): c.2406_2409delGAGT (p.Gln804Valfs)deletionPathogenicrs80357674GRCh37Chr 17, 41245139: 41245142
544BRCA1NM_007294.3(BRCA1): c.2410C> T (p.Gln804Ter)SNVPathogenicrs80356982GRCh37Chr 17, 41245138: 41245138
545BRCA1NM_007294.3(BRCA1): c.241C> T (p.Gln81Ter)SNVPathogenicrs80357350GRCh37Chr 17, 41256945: 41256945
546BRCA1NM_007294.3(BRCA1): c.2429delA (p.Asn810Thrfs)deletionPathogenicrs397508967GRCh37Chr 17, 41245119: 41245119
547BRCA1NM_007294.3(BRCA1): c.2434A> T (p.Lys812Ter)SNVPathogenicrs397508968GRCh37Chr 17, 41245114: 41245114
548BRCA1NM_007294.3(BRCA1): c.2437G> T (p.Gly813Ter)SNVPathogenicrs80357186GRCh37Chr 17, 41245111: 41245111
549BRCA1NM_007294.3(BRCA1): c.2443delA (p.Ile815Phefs)deletionPathogenicrs80357598GRCh37Chr 17, 41245105: 41245105
550BRCA1NM_007294.3(BRCA1): c.2450delG (p.Gly817Valfs)deletionPathogenicrs80357679GRCh37Chr 17, 41245098: 41245098
551BRCA1NM_007294.3(BRCA1): c.2468delG (p.Arg823Lysfs)deletionPathogenicrs80357799GRCh37Chr 17, 41245080: 41245080
552BRCA1NM_007294.3(BRCA1): c.2476delA (p.Thr826Glnfs)deletionPathogenicrs80357631GRCh37Chr 17, 41245072: 41245072
553BRCA1NM_007294.3(BRCA1): c.2477_2478delCA (p.Thr826Argfs)deletionPathogenicrs80357800GRCh37Chr 17, 41245070: 41245071
554BRCA1NM_007294.3(BRCA1): c.2477delC (p.Thr826Lysfs)deletionPathogenicrs80357740GRCh37Chr 17, 41245071: 41245071
555BRCA1NM_007294.3(BRCA1): c.2487delT (p.Phe829Leufs)deletionPathogenicrs80357658GRCh37Chr 17, 41245061: 41245061
556BRCA1NM_007294.3(BRCA1): c.2487dupT (p.Lys830Terfs)duplicationPathogenicrs397508972GRCh37Chr 17, 41245061: 41245061
557BRCA1NM_007294.3(BRCA1): c.2488_2497dupAAGTATCCAT (p.Leu833Terfs)duplicationPathogenicrs397508973GRCh37Chr 17, 41245051: 41245060
558BRCA1NM_007294.3(BRCA1): c.2507_2508delAA (p.Glu836Glyfs)deletionPathogenicrs273899686GRCh37Chr 17, 41245040: 41245041
559BRCA1NM_007294.3(BRCA1): c.2513delA (p.Asn838Thrfs)deletionPathogenicrs80357863GRCh37Chr 17, 41245035: 41245035
560BRCA1NM_007294.3(BRCA1): c.2517_2518delCA (p.His839Glnfs)deletionPathogenicrs397508974GRCh37Chr 17, 41245030: 41245031
561BRCA1NM_007294.3(BRCA1): c.2518delA (p.Ser840Valfs)deletionPathogenicrs397508975GRCh37Chr 17, 41245030: 41245030
562BRCA1NM_007294.3(BRCA1): c.2545G> T (p.Glu849Ter)SNVPathogenicrs80356951GRCh37Chr 17, 41245003: 41245003
563BRCA1NM_007294.3(BRCA1): c.2558dupA (p.Asp853Glufs)duplicationPathogenicrs80357835GRCh37Chr 17, 41244990: 41244990
564BRCA1NM_007294.3(BRCA1): c.2560_2561dupGC (p.Gln855Leufs)duplicationPathogenicrs80357968GRCh37Chr 17, 41244987: 41244988
565BRCA1NM_007294.3(BRCA1): c.2561_2565delCTCAG (p.Ala854Valfs)deletionPathogenicrs397508981GRCh37Chr 17, 41244983: 41244987
566BRCA1NM_007294.3(BRCA1): c.2568T> G (p.Tyr856Ter)SNVPathogenicrs80356832GRCh37Chr 17, 41244980: 41244980
567BRCA1NM_007294.3(BRCA1): c.2572C> T (p.Gln858Ter)SNVPathogenicrs397508983GRCh37Chr 17, 41244976: 41244976
568BRCA1NM_007294.3(BRCA1): c.2591C> G (p.Ser864Ter)SNVPathogenicrs80357003GRCh37Chr 17, 41244957: 41244957
569BRCA1NM_007294.3(BRCA1): c.2594delA (p.Lys865Serfs)deletionPathogenicrs80357756GRCh37Chr 17, 41244954: 41244954
570BRCA1NM_007294.3(BRCA1): c.2611_2612delCC (p.Pro871Valfs)deletionPathogenicrs80357962GRCh37Chr 17, 41244936: 41244937
571BRCA1NM_007294.3(BRCA1): c.2612_2613insT (p.Phe872Valfs)insertionPathogenicrs80357948GRCh37Chr 17, 41244935: 41244936
572BRCA1NM_007294.3(BRCA1): c.2612delCinsTT (p.Pro871Leufs)indelPathogenicrs397508986GRCh37Chr 17, 41244936: 41244936
573BRCA1NM_007294.3(BRCA1): c.2612dupC (p.Phe872Valfs)duplicationPathogenicrs80357948GRCh37Chr 17, 41244936: 41244936
574BRCA1NM_007294.3(BRCA1): c.2617dupT (p.Ser873Phefs)duplicationPathogenicrs80357912GRCh37Chr 17, 41244932: 41244932
575BRCA1NM_007294.3(BRCA1): c.2641G> T (p.Glu881Ter)SNVPathogenicrs397508988GRCh37Chr 17, 41244907: 41244907
576BRCA1NM_007294.3(BRCA1): c.2643delA (p.Glu881Aspfs)deletionPathogenicrs397508989GRCh37Chr 17, 41244905: 41244905
577BRCA1NM_007294.3(BRCA1): c.2646_2648delTGC (p.Cys882_Ser1217delinsTer)deletionPathogenicrs80357513GRCh37Chr 17, 41244900: 41244902
578BRCA1NM_007294.3(BRCA1): c.2657_2658delCT (p.Ser886Cysfs)deletionPathogenicrs397508990GRCh37Chr 17, 41244890: 41244891
579BRCA1NM_007294.3(BRCA1): c.2659dupG (p.Ala887Glyfs)duplicationPathogenicrs397508991GRCh37Chr 17, 41244889: 41244889
580BRCA1NM_007294.3(BRCA1): c.2670delG (p.Ser891Profs)deletionPathogenicrs80357659GRCh37Chr 17, 41244878: 41244878
581BRCA1NM_007294.3(BRCA1): c.2675_2678delTAAA (p.Leu892Terfs)deletionPathogenicrs80357518GRCh37Chr 17, 41244870: 41244873
582BRCA1NM_007294.3(BRCA1): c.2682delA (p.Lys894Asnfs)deletionPathogenicrs397508996GRCh37Chr 17, 41244866: 41244866
583BRCA1NM_007294.3(BRCA1): c.2683C> T (p.Gln895Ter)SNVPathogenicrs397508997GRCh37Chr 17, 41244865: 41244865
584BRCA1NM_007294.3(BRCA1): c.2683_2686delCAAA (p.Gln895Valfs)deletionPathogenicrs397508998GRCh37Chr 17, 41244862: 41244865
585BRCA1NM_007294.3(BRCA1): c.2685_2686delAA (p.Pro897Lysfs)deletionPathogenicrs80357636GRCh37Chr 17, 41244862: 41244863
586BRCA1NM_007294.3(BRCA1): c.2694dupA (p.Val899Serfs)duplicationPathogenicrs80357549GRCh37Chr 17, 41244854: 41244854
587BRCA1NM_007294.3(BRCA1): c.269_281delTTTGTGCTTTTCA (p.Ile90Serfs)deletionPathogenicrs80359879GRCh37Chr 17, 41256905: 41256917
588BRCA1NM_007294.3(BRCA1): c.2702_2703delTT (p.Phe901Terfs)deletionPathogenicrs80357899GRCh37Chr 17, 41244845: 41244846
589BRCA1NM_007294.3(BRCA1): c.2709delT (p.Cys903Trpfs)deletionPathogenicrs80357594GRCh37Chr 17, 41244839: 41244839
590BRCA1NM_007294.3(BRCA1): c.2713C> T (p.Gln905Ter)SNVPathogenicrs397509002GRCh37Chr 17, 41244835: 41244835
591BRCA1NM_007294.3(BRCA1): c.2719_2722delGAAG (p.Glu907Lysfs)deletionPathogenicrs80357731GRCh37Chr 17, 41244826: 41244829
592BRCA1NM_007294.3(BRCA1): c.2722G> T (p.Glu908Ter)SNVPathogenicrs80356978GRCh37Chr 17, 41244826: 41244826
593BRCA1NM_007294.3(BRCA1): c.2726_2730delATCAA (p.Asn909Argfs)deletionPathogenicrs80357712GRCh37Chr 17, 41244818: 41244822
594BRCA1NM_007294.3(BRCA1): c.2726delA (p.Asn909Ilefs)deletionPathogenicrs80357614GRCh37Chr 17, 41244822: 41244822
595BRCA1NM_007294.3(BRCA1): c.2726dupA (p.Asn909Lysfs)duplicationPathogenicrs80357685GRCh37Chr 17, 41244822: 41244822
596BRCA1NM_007294.3(BRCA1): c.2727_2730delTCAA (p.Asn909Lysfs)deletionPathogenicrs80357605GRCh37Chr 17, 41244818: 41244821
597BRCA1NM_007294.3(BRCA1): c.2728delC (p.Gln910Lysfs)deletionPathogenicrs397509005GRCh37Chr 17, 41244820: 41244820
598BRCA1NM_007294.3(BRCA1): c.2740G> T (p.Glu914Ter)SNVPathogenicrs80357419GRCh37Chr 17, 41244808: 41244808
599BRCA1NM_007294.3(BRCA1): c.2744_2745delCT (p.Ser915Terfs)deletionPathogenicrs80357540GRCh37Chr 17, 41244803: 41244804
600BRCA1NM_007294.3(BRCA1): c.2749dupA (p.Ile917Asnfs)duplicationPathogenicrs80357942GRCh37Chr 17, 41244799: 41244799
601BRCA1NM_007294.3(BRCA1): c.2761C> T (p.Gln921Ter)SNVPathogenicrs80357377GRCh37Chr 17, 41244787: 41244787
602BRCA1NM_007294.3(BRCA1): c.2762delA (p.Gln921Argfs)deletionPathogenicrs80357703GRCh37Chr 17, 41244786: 41244786
603BRCA1NM_007294.3(BRCA1): c.2764_2767delACAG (p.Thr922Leufs)deletionPathogenicrs80357822GRCh37Chr 17, 41244781: 41244784
604BRCA1NM_007294.3(BRCA1): c.2766delA (p.Val923Leufs)deletionPathogenicrs80357812GRCh37Chr 17, 41244782: 41244782
605BRCA1NM_007294.3(BRCA1): c.2767_2770delGTTA (p.Val923Ilefs)deletionPathogenicrs80357661GRCh37Chr 17, 41244778: 41244781
606BRCA1NM_007294.3(BRCA1): c.2796_2799delTGGT (p.Gly933Argfs)deletionPathogenicrs80357840GRCh37Chr 17, 41244749: 41244752
607BRCA1NM_007294.3(BRCA1): c.2800C> T (p.Gln934Ter)SNVPathogenicrs80357223GRCh37Chr 17, 41244748: 41244748
608BRCA1NM_007294.3(BRCA1): c.2805delA (p.Asp936Ilefs)deletionPathogenicrs397509012GRCh37Chr 17, 41244743: 41244743
609BRCA1NM_007294.3(BRCA1): c.2808_2811delTAAG (p.Lys937Glnfs)deletionPathogenicrs397509013GRCh37Chr 17, 41244737: 41244740
610BRCA1NM_007294.3(BRCA1): c.2812_2813delCCinsG (p.Pro938Glufs)indelPathogenicrs273899689GRCh37Chr 17, 41244735: 41244736
611BRCA1NM_007294.3(BRCA1): c.2832T> A (p.Cys944Ter)SNVPathogenicrs80357458GRCh37Chr 17, 41244716: 41244716
612BRCA1NM_007294.3(BRCA1): c.2834_2835delGT (p.Ser945Asnfs)deletionPathogenicrs397509015GRCh37Chr 17, 41244713: 41244714
613BRCA1NM_007294.3(BRCA1): c.2834_2836delGTAinsC (p.Ser945Thrfs)indelPathogenicrs386134270GRCh37Chr 17, 41244712: 41244714
614BRCA1NM_007294.3(BRCA1): c.2835dupT (p.Ile946Tyrfs)duplicationPathogenicrs80357519GRCh37Chr 17, 41244713: 41244713
615BRCA1NM_007294.3(BRCA1): c.2840_2841delAA (p.Lys947Argfs)deletionPathogenicrs80357984GRCh37Chr 17, 41244707: 41244708
616BRCA1NM_007294.3(BRCA1): c.2856_2857delTT (p.Phe952Leufs)deletionPathogenicrs397509019GRCh37Chr 17, 41244691: 41244692
617BRCA1NM_007294.3(BRCA1): c.2864C> A (p.Ser955Ter)SNVPathogenicrs80357295GRCh37Chr 17, 41244684: 41244684
618BRCA1NM_007294.3(BRCA1): c.2866_2870delTCTCA (p.Ser956Valfs)deletionPathogenicrs80357819GRCh37Chr 17, 41244678: 41244682
619BRCA1NM_007294.3(BRCA1): c.2869C> T (p.Gln957Ter)SNVPathogenicrs80356973GRCh37Chr 17, 41244679: 41244679
620BRCA1NM_007294.3(BRCA1): c.2887delA (p.Thr963Leufs)deletionPathogenicrs80357559GRCh37Chr 17, 41244661: 41244661
621BRCA1NM_007294.3(BRCA1): c.290_291delCA (p.Thr97Argfs)deletionPathogenicrs80357738GRCh37Chr 17, 41256895: 41256896
622BRCA1NM_007294.3(BRCA1): c.2910delA (p.Lys970Asnfs)deletionPathogenicrs80357893GRCh37Chr 17, 41244638: 41244638
623BRCA1NM_007294.3(BRCA1): c.2914G> T (p.Gly972Ter)SNVPathogenicrs397509023GRCh37Chr 17, 41244634: 41244634
624BRCA1NM_007294.3(BRCA1): c.2915delG (p.Gly972Aspfs)deletionPathogenicrs80357573GRCh37Chr 17, 41244633: 41244633
625BRCA1NM_007294.3(BRCA1): c.2920_2921delTT (p.Leu974Thrfs)deletionPathogenicrs80357611GRCh37Chr 17, 41244627: 41244628
626BRCA1NM_007294.3(BRCA1): c.2921T> A (p.Leu974Ter)SNVPathogenicrs80356872GRCh37Chr 17, 41244627: 41244627
627BRCA1NM_007294.3(BRCA1): c.2923C> T (p.Gln975Ter)SNVPathogenicrs80357497GRCh37Chr 17, 41244625: 41244625
628BRCA1NM_007294.3(BRCA1): c.2934delT (p.Arg979Valfs)deletionPathogenicrs80357741GRCh37Chr 17, 41244614: 41244614
629BRCA1NM_007294.3(BRCA1): c.2952delT (p.Ile986Serfs)deletionPathogenicrs80357627GRCh37Chr 17, 41244596: 41244596
630BRCA1NM_007294.3(BRCA1): c.2952dupT (p.Pro985Serfs)duplicationPathogenicrs397509026GRCh37Chr 17, 41244596: 41244596
631BRCA1NM_007294.3(BRCA1): c.2955delC (p.Ile986Serfs)deletionPathogenicrs397509027GRCh37Chr 17, 41244593: 41244593
632BRCA1NM_007294.3(BRCA1): c.2963C> A (p.Ser988Ter)SNVPathogenicrs397507206GRCh37Chr 17, 41244585: 41244585
633BRCA1NM_007294.3(BRCA1): c.2973_2979delAACTAAA (p.Lys991Asnfs)deletionPathogenicrs397509030GRCh37Chr 17, 41244569: 41244575
634BRCA1NM_007294.3(BRCA1): c.2980delT (p.Cys994Valfs)deletionPathogenicrs80357502GRCh37Chr 17, 41244568: 41244568
635BRCA1NM_007294.3(BRCA1): c.2989_2990dupAA (p.Asn997Lysfs)duplicationPathogenicrs80357829GRCh37Chr 17, 41244558: 41244559
636BRCA1NM_007294.3(BRCA1): c.2990delA (p.Asn997Ilefs)deletionPathogenicrs397509032GRCh37Chr 17, 41244558: 41244558
637BRCA1NM_007294.3(BRCA1): c.2999delA (p.Glu1000Glyfs)deletionPathogenicrs80357991GRCh37Chr 17, 41244549: 41244549
638BRCA1NM_007294.3(BRCA1): c.2T> C (p.Met1Thr)SNVPathogenicrs80357111GRCh37Chr 17, 41276112: 41276112
639BRCA1NM_007294.3(BRCA1): c.2T> G (p.Met1Arg)SNVPathogenicrs80357111GRCh37Chr 17, 41276112: 41276112
640BRCA1NM_007294.3(BRCA1): c.3008_3009delTT (p.Phe1003Terfs)deletionPathogenicrs80357617GRCh37Chr 17, 41244539: 41244540
641BRCA1NM_007294.3(BRCA1): c.3013delG (p.Glu1005Asnfs)deletionPathogenicrs80357937GRCh37Chr 17, 41244535: 41244535
642BRCA1NM_007294.3(BRCA1): c.3018_3021delTTCA (p.His1006Glnfs)deletionPathogenicrs80357749GRCh37Chr 17, 41244527: 41244530
643BRCA1NM_007294.3(BRCA1): c.302-1G> ASNVPathogenicrs80358116GRCh37Chr 17, 41256279: 41256279
644BRCA1NM_007294.3(BRCA1): c.302-1G> CSNVPathogenicrs80358116GRCh37Chr 17, 41256279: 41256279
645BRCA1NM_007294.3(BRCA1): c.302-2A> GSNVPathogenicrs80358011GRCh37Chr 17, 41256280: 41256280
646BRCA1NM_007294.3(BRCA1): c.302-2delAdeletionPathogenicrs273899695GRCh37Chr 17, 41256280: 41256280
647BRCA1NM_007294.3(BRCA1): c.3020C> G (p.Ser1007Ter)SNVPathogenicrs80357168GRCh37Chr 17, 41244528: 41244528
648BRCA1NM_007294.3(BRCA1): c.3026C> A (p.Ser1009Ter)SNVPathogenicrs273899696GRCh37Chr 17, 41244522: 41244522
649BRCA1NM_007294.3(BRCA1): c.3029_3030delCT (p.Pro1010Argfs)deletionPathogenicrs80357510GRCh37Chr 17, 41244518: 41244519
650BRCA1NM_007294.3(BRCA1): c.303T> G (p.Tyr101Ter)SNVPathogenicrs80356936GRCh37Chr 17, 41256277: 41256277
651BRCA1NM_007294.3(BRCA1): c.3048_3052dupTGAGA (p.Asn1018Metfs)duplicationPathogenicrs80357856GRCh37Chr 17, 41244496: 41244500
652BRCA1NM_007294.3(BRCA1): c.3049G> T (p.Glu1017Ter)SNVPathogenicrs80357004GRCh37Chr 17, 41244499: 41244499
653BRCA1NM_007294.3(BRCA1): c.3084_3094delTAATAACATTA (p.Asn1029Argfs)deletionPathogenicrs80357647GRCh37Chr 17, 41244454: 41244464
654BRCA1NM_007294.3(BRCA1): c.3097G> T (p.Glu1033Ter)SNVPathogenicrs273899698GRCh37Chr 17, 41244451: 41244451
655BRCA1NM_007294.3(BRCA1): c.3107_3112delTTAAAG (p.Phe1036_Cys1372delinsTer)deletionPathogenicrs80357920GRCh37Chr 17, 41244436: 41244441
656BRCA1NM_007294.3(BRCA1): c.3108delT (p.Phe1036Leufs)deletionPathogenicrs80357841GRCh37Chr 17, 41244440: 41244440
657BRCA1NM_007294.3(BRCA1): c.3108dupT (p.Lys1037Terfs)duplicationPathogenicrs273899699GRCh37Chr 17, 41244440: 41244440
658BRCA1NM_007294.3(BRCA1): c.3122C> G (p.Ser1041Ter)SNVPathogenicrs397509035GRCh37Chr 17, 41244426: 41244426
659BRCA1NM_007294.3(BRCA1): c.3145delT (p.Ser1049Profs)deletionPathogenicrs397509038GRCh37Chr 17, 41244403: 41244403
660BRCA1NM_007294.3(BRCA1): c.3155delA (p.Asn1052Metfs)deletionPathogenicrs397509040GRCh37Chr 17, 41244393: 41244393
661BRCA1NM_007294.3(BRCA1): c.3168delC (p.Ser1057Valfs)deletionPathogenicrs397509044GRCh37Chr 17, 41244380: 41244380
662BRCA1NM_007294.3(BRCA1): c.3178G> T (p.Glu1060Ter)SNVPathogenicrs80357424GRCh37Chr 17, 41244370: 41244370
663BRCA1NM_007294.3(BRCA1): c.317delA (p.Asn106Ilefs)deletionPathogenicrs80357950GRCh37Chr 17, 41256263: 41256263
664BRCA1NM_007294.3(BRCA1): c.3181delA (p.Ile1061Terfs)deletionPathogenicrs80357702GRCh37Chr 17, 41244367: 41244367
665BRCA1NM_007294.3(BRCA1): c.3188_3189delCCinsG (p.Ser1063Terfs)indelPathogenicrs273899701GRCh37Chr 17, 41244359: 41244360
666BRCA1NM_007294.3(BRCA1): c.3193dupG (p.Asp1065Glyfs)duplicationPathogenicrs80357511GRCh37Chr 17, 41244355: 41244355
667BRCA1NM_007294.3(BRCA1): c.3214delC (p.Leu1072Terfs)deletionPathogenicrs80357923GRCh37Chr 17, 41244334: 41244334
668BRCA1NM_007294.3(BRCA1): c.321delT (p.Phe107Leufs)deletionPathogenicrs80357544GRCh37Chr 17, 41256259: 41256259
669BRCA1NM_007294.3(BRCA1): c.3226delA (p.Arg1076Glufs)deletionPathogenicrs273899703GRCh37Chr 17, 41244322: 41244322
670BRCA1NM_007294.3(BRCA1): c.3239T> A (p.Leu1080Ter)SNVPathogenicrs80357145GRCh37Chr 17, 41244309: 41244309
671BRCA1NM_007294.3(BRCA1): c.3253dupA (p.Arg1085Lysfs)duplicationPathogenicrs80357517GRCh37Chr 17, 41244295: 41244295
672BRCA1NM_007294.3(BRCA1): c.3254_3255dupGA (p.Leu1086Aspfs)duplicationPathogenicrs80357624GRCh37Chr 17, 41244293: 41244294
673BRCA1NM_007294.3(BRCA1): c.3255dupA (p.Leu1086Ilefs)duplicationPathogenicrs80357624GRCh37Chr 17, 41244293: 41244293
674BRCA1NM_007294.3(BRCA1): c.3257T> A (p.Leu1086Ter)SNVPathogenicrs80357006GRCh37Chr 17, 41244291: 41244291
675BRCA1NM_007294.3(BRCA1): c.3257T> G (p.Leu1086Ter)SNVPathogenicrs80357006GRCh37Chr 17, 41244291: 41244291
676BRCA1NM_007294.3(BRCA1): c.3257dupT (p.Leu1086Phefs)duplicationPathogenicrs80357858GRCh37Chr 17, 41244291: 41244291
677BRCA1NM_007294.3(BRCA1): c.3262delG (p.Val1088Phefs)deletionPathogenicrs397509049GRCh37Chr 17, 41244286: 41244286
678BRCA1NM_007294.3(BRCA1): c.3268C> T (p.Gln1090Ter)SNVPathogenicrs80357402GRCh37Chr 17, 41244280: 41244280
679BRCA1NM_007294.3(BRCA1): c.3279delC (p.Tyr1094Ilefs)deletionPathogenicrs397509050GRCh37Chr 17, 41244269: 41244269
680BRCA1NM_007294.3(BRCA1): c.3285delA (p.Lys1095Asnfs)deletionPathogenicrs397509051GRCh37Chr 17, 41244263: 41244263
681BRCA1NM_007294.3(BRCA1): c.3286C> T (p.Gln1096Ter)SNVPathogenicrs80357485GRCh37Chr 17, 41244262: 41244262
682BRCA1NM_007294.3(BRCA1): c.3286delC (p.Gln1096Lysfs)deletionPathogenicrs80357533GRCh37Chr 17, 41244262: 41244262
683BRCA1NM_007294.3(BRCA1): c.3288_3289delAA (p.Leu1098Serfs)deletionPathogenicrs80357686GRCh37Chr 17, 41244259: 41244260
684BRCA1NM_007294.3(BRCA1): c.3292_3293delCT (p.Leu1098Serfs)deletionPathogenicrs80357992GRCh37Chr 17, 41244255: 41244256
685BRCA1NM_007294.3(BRCA1): c.3296delC (p.Pro1099Leufs)deletionPathogenicrs80357815GRCh37Chr 17, 41244252: 41244252
686BRCA1NM_007294.3(BRCA1): c.329_330delAG (p.Lys110Argfs)deletionPathogenicrs80357754GRCh37Chr 17, 41256250: 41256251
687BRCA1NM_007294.3(BRCA1): c.329dupA (p.Glu111Glyfs)duplicationPathogenicrs80357604GRCh37Chr 17, 41256251: 41256251
688BRCA1NM_007294.3(BRCA1): c.32_33insC (p.Gln12Thrfs)insertionPathogenicrs80357811GRCh37Chr 17, 41276081: 41276082
689BRCA1NM_007294.3(BRCA1): c.3309T> A (p.Cys1103Ter)SNVPathogenicrs80357317GRCh37Chr 17, 41244239: 41244239
690BRCA1NM_007294.3(BRCA1): c.3314delA (p.His1105Leufs)deletionPathogenicrs397509054GRCh37Chr 17, 41244234: 41244234
691BRCA1NM_007294.3(BRCA1): c.3319G> T (p.Glu1107Ter)SNVPathogenicrs80357106GRCh37Chr 17, 41244229: 41244229
692BRCA1NM_007294.3(BRCA1): c.3323_3326delTAAA (p.Ile1108Lysfs)deletionPathogenicrs80357763GRCh37Chr 17, 41244222: 41244225
693BRCA1NM_007294.3(BRCA1): c.3325_3329delAAAAA (p.Lys1109Alafs)deletionPathogenicrs80357680GRCh37Chr 17, 41244219: 41244223
694BRCA1NM_007294.3(BRCA1): c.3326_3329delAAAA (p.Lys1109Serfs)deletionPathogenicrs80357575GRCh37Chr 17, 41244219: 41244222
695BRCA1NM_007294.3(BRCA1): c.3329_3330delAG (p.Lys1110Thrfs)deletionPathogenicrs80357525GRCh37Chr 17, 41244218: 41244219
696BRCA1NM_007294.3(BRCA1): c.3329delA (p.Lys1110Serfs)deletionPathogenicrs397509056GRCh37Chr 17, 41244219: 41244219
697BRCA1NM_007294.3(BRCA1): c.3329dupA (p.Gln1111Alafs)duplicationPathogenicrs80357692GRCh37Chr 17, 41244219: 41244219
698BRCA1NM_007294.3(BRCA1): c.3331C> T (p.Gln1111Ter)SNVPathogenicrs80357089GRCh37Chr 17, 41244217: 41244217
699BRCA1NM_007294.3(BRCA1): c.3333_3336delAGAA (p.Gln1111Hisfs)deletionPathogenicrs397509057GRCh37Chr 17, 41244212: 41244215
700BRCA1NM_007294.3(BRCA1): c.3333delA (p.Glu1112Asnfs)deletionPathogenicrs80357966GRCh37Chr 17, 41244215: 41244215
701BRCA1NM_007294.3(BRCA1): c.3339T> G (p.Tyr1113Ter)SNVPathogenicrs80357421GRCh37Chr 17, 41244209: 41244209
702BRCA1NM_007294.3(BRCA1): c.3340G> T (p.Glu1114Ter)SNVPathogenicrs80357278GRCh37Chr 17, 41244208: 41244208
703BRCA1NM_007294.3(BRCA1): c.3342_3345delAGAA (p.Glu1115Terfs)deletionPathogenicrs397509058GRCh37Chr 17, 41244203: 41244206
704BRCA1NM_007294.3(BRCA1): c.3343delG (p.Glu1115Lysfs)deletionPathogenicrs273899705GRCh37Chr 17, 41244205: 41244205
705BRCA1NM_007294.3(BRCA1): c.3354_3355delGA (p.Gln1118Hisfs)deletionPathogenicrs397509059GRCh37Chr 17, 41244193: 41244194
706BRCA1NM_007294.3(BRCA1): c.3359_3360delTT (p.Val1120Glufs)deletionPathogenicrs80357843GRCh37Chr 17, 41244188: 41244189
707BRCA1NM_007294.3(BRCA1): c.3362delA (p.Asn1121Ilefs)deletionPathogenicrs80357865GRCh37Chr 17, 41244186: 41244186
708BRCA1NM_007294.3(BRCA1): c.3365_3366delCA (p.Thr1122Argfs)deletionPathogenicrs80357892GRCh37Chr 17, 41244182: 41244183
709BRCA1NM_007294.3(BRCA1): c.3375_3376delTC (p.Pro1126Ilefs)deletionPathogenicrs80357828GRCh37Chr 17, 41244172: 41244173
710BRCA1NM_007294.3(BRCA1): c.3377delC (p.Pro1126Hisfs)deletionPathogenicrs397509061GRCh37Chr 17, 41244171: 41244171
711BRCA1NM_007294.3(BRCA1): c.3390delA (p.Asp1131Ilefs)deletionPathogenicrs80357900GRCh37Chr 17, 41244158: 41244158
712BRCA1NM_007294.3(BRCA1): c.3397_3398delTT (p.Leu1133Argfs)deletionPathogenicrs80357577GRCh37Chr 17, 41244150: 41244151
713BRCA1NM_007294.3(BRCA1): c.3398T> A (p.Leu1133Ter)SNVPathogenicrs80356971GRCh37Chr 17, 41244150: 41244150
714BRCA1NM_007294.3(BRCA1): c.3398T> G (p.Leu1133Ter)SNVPathogenicrs80356971GRCh37Chr 17, 41244150: 41244150
715BRCA1NM_007294.3(BRCA1): c.3403C> T (p.Gln1135Ter)SNVPathogenicrs80357136GRCh37Chr 17, 41244145: 41244145
716BRCA1NM_007294.3(BRCA1): c.3417delT (p.Ser1139Argfs)deletionPathogenicrs273899706GRCh37Chr 17, 41244131: 41244131
717BRCA1NM_007294.3(BRCA1): c.3428delCinsTA (p.Ser1143Leufs)indelPathogenicrs397509066GRCh37Chr 17, 41244120: 41244120
718BRCA1NM_007294.3(BRCA1): c.342_343delTC (p.Pro115Terfs)deletionPathogenicrs80357881GRCh37Chr 17, 41256237: 41256238
719BRCA1NM_007294.3(BRCA1): c.3430C> T (p.Gln1144Ter)SNVPathogenicrs80357369GRCh37Chr 17, 41244118: 41244118
720BRCA1NM_007294.3(BRCA1): c.3436_3439delTGTT (p.Cys1146Leufs)deletionPathogenicrs397509067GRCh37Chr 17, 41244109: 41244112
721BRCA1NM_007294.3(BRCA1): c.3472G> T (p.Glu1158Ter)SNVPathogenicrs397509072GRCh37Chr 17, 41244076: 41244076
722BRCA1NM_007294.3(BRCA1): c.3477_3479delAAAinsC (p.Lys1160Glyfs)indelPathogenicrs273899707GRCh37Chr 17, 41244069: 41244071
723BRCA1NM_007294.3(BRCA1): c.3477_3480delAAAG (p.Ile1159Metfs)deletionPathogenicrs80357781GRCh37Chr 17, 41244068: 41244071
724BRCA1NM_007294.3(BRCA1): c.3494_3495delTT (p.Phe1165Cysfs)deletionPathogenicrs397509076GRCh37Chr 17, 41244053: 41244054
725BRCA1NM_007294.3(BRCA1): c.34C> T (p.Gln12Ter)SNVPathogenicrs80357134GRCh37Chr 17, 41276080: 41276080
726BRCA1NM_007294.3(BRCA1): c.3514G> T (p.Glu1172Ter)SNVPathogenicrs397509079GRCh37Chr 17, 41244034: 41244034
727BRCA1NM_007294.3(BRCA1): c.3531delT (p.Phe1177Leufs)deletionPathogenicrs80357621GRCh37Chr 17, 41244017: 41244017
728BRCA1NM_007294.3(BRCA1): c.3544C> T (p.Gln1182Ter)SNVPathogenicrs80357296GRCh37Chr 17, 41244004: 41244004
729BRCA1NM_007294.3(BRCA1): c.3549_3550delAGinsT (p.Lys1183Asnfs)indelPathogenicrs273899709GRCh37Chr 17, 41243998: 41243999
730BRCA1NM_007294.3(BRCA1): c.3553G> T (p.Glu1185Ter)SNVPathogenicrs397509081GRCh37Chr 17, 41243995: 41243995
731BRCA1NM_007294.3(BRCA1): c.3569_3570delCT (p.Pro1190Glnfs)deletionPathogenicrs80357845GRCh37Chr 17, 41243978: 41243979
732BRCA1NM_007294.3(BRCA1): c.3578dupT (p.Thr1194Hisfs)duplicationPathogenicrs397509083GRCh37Chr 17, 41243970: 41243970
733BRCA1NM_007294.3(BRCA1): c.3580delA (p.Thr1194Profs)deletionPathogenicrs80357663GRCh37Chr 17, 41243968: 41243968
734BRCA1NM_007294.3(BRCA1): c.3583delC (p.His1195Ilefs)deletionPathogenicrs273900710GRCh37Chr 17, 41243965: 41243965
735BRCA1NM_007294.3(BRCA1): c.3586dupA (p.Thr1196Asnfs)duplicationPathogenicrs80357531GRCh37Chr 17, 41243962: 41243962
736BRCA1NM_007294.3(BRCA1): c.3593T> A (p.Leu1198Ter)SNVPathogenicrs397509085GRCh37Chr 17, 41243955: 41243955
737BRCA1NM_007294.3(BRCA1): c.3596_3602delCTCAGGG (p.Ala1199Valfs)deletionPathogenicrs397509086GRCh37Chr 17, 41243946: 41243952
738BRCA1NM_007294.3(BRCA1): c.3598C> T (p.Gln1200Ter)SNVPathogenicrs62625307GRCh37Chr 17, 41243950: 41243950
739BRCA1NM_007294.3(BRCA1): c.3619A> T (p.Lys1207Ter)SNVPathogenicrs80357455GRCh37Chr 17, 41243929: 41243929
740BRCA1NM_007294.3(BRCA1): c.3624dupA (p.Leu1209Ilefs)duplicationPathogenicrs80357512GRCh37Chr 17, 41243924: 41243924
741BRCA1NM_007294.3(BRCA1): c.3626delT (p.Leu1209Terfs)deletionPathogenicrs80357571GRCh37Chr 17, 41243922: 41243922
742BRCA1NM_007294.3(BRCA1): c.3628delG (p.Glu1210Serfs)deletionPathogenicrs397509090GRCh37Chr 17, 41243920: 41243920
743BRCA1NM_007294.3(BRCA1): c.3629_3630delAG (p.Glu1210Valfs)deletionPathogenicrs80357589GRCh37Chr 17, 41243918: 41243919
744BRCA1NM_007294.3(BRCA1): c.3640G> T (p.Glu1214Ter)SNVPathogenicrs80356923GRCh37Chr 17, 41243908: 41243908
745BRCA1NM_007294.3(BRCA1): c.3642_3643delGA (p.Asn1215Leufs)deletionPathogenicrs80357805GRCh37Chr 17, 41243905: 41243906
746BRCA1NM_007294.3(BRCA1): c.3661G> T (p.Glu1221Ter)SNVPathogenicrs80357310GRCh37Chr 17, 41243887: 41243887
747BRCA1NM_007294.3(BRCA1): c.3664G> T (p.Glu1222Ter)SNVPathogenicrs80357356GRCh37Chr 17, 41243884: 41243884
748BRCA1NM_007294.3(BRCA1): c.3668_3671dupTTCC (p.Cys1225Serfs)duplicationPathogenicrs80357797GRCh37Chr 17, 41243877: 41243880
749BRCA1NM_007294.3(BRCA1): c.3676_3679delTTCC (p.Phe1226Asnfs)deletionPathogenicrs80357671GRCh37Chr 17, 41243869: 41243872
750BRCA1NM_007294.3(BRCA1): c.3693dupT (p.Gly1232Trpfs)duplicationPathogenicrs397509092GRCh37Chr 17, 41243855: 41243855
751BRCA1NM_007294.3(BRCA1): c.3699delA (p.Val1234Terfs)deletionPathogenicrs80357873GRCh37Chr 17, 41243849: 41243849
752BRCA1NM_007294.3(BRCA1): c.3704_3707delACAA (p.Asn1235Ilefs)deletionPathogenicrs397509094GRCh37Chr 17, 41243841: 41243844
753BRCA1NM_007294.3(BRCA1): c.3704delA (p.Asn1235Thrfs)deletionPathogenicrs397509095GRCh37Chr 17, 41243844: 41243844
754BRCA1NM_007294.3(BRCA1): c.3706_3707delAA (p.Asn1236Tyrfs)deletionPathogenicrs80357666GRCh37Chr 17, 41243841: 41243842
755BRCA1NM_007294.3(BRCA1): c.3706_3713delAATATACC (p.Asn1236Phefs)deletionPathogenicrs80357552GRCh37Chr 17, 41243835: 41243842
756BRCA1NM_007294.3(BRCA1): c.3710delT (p.Ile1237Asnfs)deletionPathogenicrs80357564GRCh37Chr 17, 41243838: 41243838
757BRCA1NM_007294.3(BRCA1): c.3715_3717delTCTinsC (p.Ser1239Profs)indelPathogenicrs273900714GRCh37Chr 17, 41243831: 41243833
758BRCA1NM_007294.3(BRCA1): c.3718C> T (p.Gln1240Ter)SNVPathogenicrs80356903GRCh37Chr 17, 41243830: 41243830
759BRCA1NM_007294.3(BRCA1): c.3722_3740del19 (p.Ser1241Leufs)deletionPathogenicrs80359882GRCh37Chr 17, 41243808: 41243826
760BRCA1NM_007294.3(BRCA1): c.3736delA (p.Thr1246Profs)deletionPathogenicrs80357578GRCh37Chr 17, 41243812: 41243812
761BRCA1NM_007294.3(BRCA1): c.3753T> A (p.Cys1251Ter)SNVPathogenicrs397509098GRCh37Chr 17, 41243795: 41243795
762BRCA1NM_007294.3(BRCA1): c.3756_3757delGT (p.Ser1253Terfs)deletionPathogenicrs397509099GRCh37Chr 17, 41243791: 41243792
763BRCA1NM_007294.3(BRCA1): c.3759dupT (p.Lys1254Terfs)duplicationPathogenicrs80357687GRCh37Chr 17, 41243789: 41243789
764BRCA1NM_007294.3(BRCA1): c.375_376insT (p.Gln126Serfs)insertionPathogenicrs397509101GRCh37Chr 17, 41256204: 41256205
765BRCA1NM_007294.3(BRCA1): c.3760_3761insT (p.Lys1254Ilefs)insertionPathogenicrs80357986GRCh37Chr 17, 41243787: 41243788
766BRCA1NM_007294.3(BRCA1): c.3762_3763delGA (p.Asn1255Hisfs)deletionPathogenicrs80357645GRCh37Chr 17, 41243785: 41243786
767BRCA1NM_007294.3(BRCA1): c.3763_3764delAA (p.Asn1255Hisfs)deletionPathogenicrs397509103GRCh37Chr 17, 41243784: 41243785
768BRCA1NM_007294.3(BRCA1): c.3774_3775delGA (p.Asn1259Phefs)deletionPathogenicrs397509106GRCh37Chr 17, 41243773: 41243774
769BRCA1NM_007294.3(BRCA1): c.3779delT (p.Leu1260Tyrfs)deletionPathogenicrs80357798GRCh37Chr 17, 41243769: 41243769
770BRCA1NM_007294.3(BRCA1): c.3782delT (p.Leu1261Tyrfs)deletionPathogenicrs80357545GRCh37Chr 17, 41243766: 41243766
771BRCA1NM_007294.3(BRCA1): c.3785C> A (p.Ser1262Ter)SNVPathogenicrs80357269GRCh37Chr 17, 41243763: 41243763
772BRCA1NM_007294.3(BRCA1): c.3794delA (p.Asn1265Ilefs)deletionPathogenicrs80357767GRCh37Chr 17, 41243754: 41243754
773BRCA1NM_007294.3(BRCA1): c.37_40delAATG (p.Asn13Serfs)deletionPathogenicrs80357530GRCh37Chr 17, 41276074: 41276077
774BRCA1NM_007294.3(BRCA1): c.3813dupT (p.Asn1272Terfs)duplicationPathogenicrs397509108GRCh37Chr 17, 41243735: 41243735
775BRCA1NM_007294.3(BRCA1): c.3814_3815insT (p.Asn1272Ilefs)insertionPathogenicrs397509109GRCh37Chr 17, 41243733: 41243734
776BRCA1NM_007294.3(BRCA1): c.3817C> T (p.Gln1273Ter)SNVPathogenicrs80357208GRCh37Chr 17, 41243731: 41243731
777BRCA1NM_007294.3(BRCA1): c.3820delG (p.Val1274Terfs)deletionPathogenicrs397509110GRCh37Chr 17, 41243728: 41243728
778BRCA1NM_007294.3(BRCA1): c.3820dupG (p.Val1274Glyfs)duplicationPathogenicrs80357616GRCh37Chr 17, 41243728: 41243728
779BRCA1NM_007294.3(BRCA1): c.3839_3843delCTCAGinsAGGC (p.Ser1280Terfs)indelPathogenicrs273900717GRCh37Chr 17, 41243705: 41243709
780BRCA1NM_007294.3(BRCA1): c.3841C> T (p.Gln1281Ter)SNVPathogenicrs80356866GRCh37Chr 17, 41243707: 41243707
781BRCA1NM_007294.3(BRCA1): c.3841_3842delCA (p.Gln1281Glyfs)deletionPathogenicrs80357584GRCh37Chr 17, 41243706: 41243707
782BRCA1NM_007294.3(BRCA1): c.3844delG (p.Glu1282Asnfs)deletionPathogenicrs397509113GRCh37Chr 17, 41243704: 41243704
783BRCA1NM_007294.3(BRCA1): c.3856delA (p.Ser1286Valfs)deletionPathogenicrs80357855GRCh37Chr 17, 41243692: 41243692
784BRCA1NM_007294.3(BRCA1): c.3862delG (p.Glu1288Lysfs)deletionPathogenicrs273900718GRCh37Chr 17, 41243686: 41243686
785BRCA1NM_007294.3(BRCA1): c.3869_3870delAA (p.Lys1290Metfs)deletionPathogenicrs80357918GRCh37Chr 17, 41243678: 41243679
786BRCA1NM_007294.3(BRCA1): c.3893C> A (p.Ser1298Ter)SNVPathogenicrs80357440GRCh37Chr 17, 41243655: 41243655
787BRCA1NM_007294.3(BRCA1): c.3895C> T (p.Gln1299Ter)SNVPathogenicrs80357038GRCh37Chr 17, 41243653: 41243653
788BRCA1NM_007294.3(BRCA1): c.3901_3902delAG (p.Ser1301Terfs)deletionPathogenicrs80357646GRCh37Chr 17, 41243646: 41243647
789BRCA1NM_007294.3(BRCA1): c.3904G> T (p.Glu1302Ter)SNVPathogenicrs80357461GRCh37Chr 17, 41243644: 41243644
790BRCA1NM_007294.3(BRCA1): c.390C> A (p.Tyr130Ter)SNVPathogenicrs80356888GRCh37Chr 17, 41256190: 41256190
791BRCA1NM_007294.3(BRCA1): c.3910delG (p.Glu1304Lysfs)deletionPathogenicrs397509117GRCh37Chr 17, 41243638: 41243638
792BRCA1NM_007294.3(BRCA1): c.3914delA (p.Asp1305Alafs)deletionPathogenicrs397509118GRCh37Chr 17, 41243634: 41243634
793BRCA1NM_007294.3(BRCA1): c.3916_3917delTT (p.Leu1306Aspfs)deletionPathogenicrs80357678GRCh37Chr 17, 41243631: 41243632
794BRCA1NM_007294.3(BRCA1): c.391A> T (p.Arg131Ter)SNVPathogenicrs80357207GRCh37Chr 17, 41256189: 41256189
795BRCA1NM_007294.3(BRCA1): c.3926delA (p.Asn1309Ilefs)deletionPathogenicrs397509119GRCh37Chr 17, 41243622: 41243622
796BRCA1NM_007294.3(BRCA1): c.3931_3934delAACA (p.Asn1311Profs)deletionPathogenicrs80357864GRCh37Chr 17, 41243614: 41243617
797BRCA1NM_007294.3(BRCA1): c.3932delA (p.Asn1311Thrfs)deletionPathogenicrs80357504GRCh37Chr 17, 41243616: 41243616
798BRCA1NM_007294.3(BRCA1): c.3964A> T (p.Lys1322Ter)SNVPathogenicrs80357343GRCh37Chr 17, 41243584: 41243584
799BRCA1NM_007294.3(BRCA1): c.3966delA (p.Lys1322Asnfs)deletionPathogenicrs80357979GRCh37Chr 17, 41243582: 41243582
800BRCA1NM_007294.3(BRCA1): c.3967C> T (p.Gln1323Ter)SNVPathogenicrs80357262GRCh37Chr 17, 41243581: 41243581
801BRCA1NM_007294.3(BRCA1): c.3967delC (p.Gln1323Lysfs)deletionPathogenicrs397509122GRCh37Chr 17, 41243581: 41243581
802BRCA1NM_007294.3(BRCA1): c.3972delG (p.Met1324Ilefs)deletionPathogenicrs80357987GRCh37Chr 17, 41243576: 41243576
803BRCA1NM_007294.3(BRCA1): c.3973delA (p.Arg1325Glyfs)deletionPathogenicrs80357904GRCh37Chr 17, 41243575: 41243575
804BRCA1NM_007294.3(BRCA1): c.3981delG (p.Gln1327Hisfs)deletionPathogenicrs397509123GRCh37Chr 17, 41243567: 41243567
805BRCA1NM_007294.3(BRCA1): c.399_400delTG (p.Ala134Glnfs)deletionPathogenicrs80357568GRCh37Chr 17, 41256180: 41256181
806BRCA1NM_007294.3(BRCA1): c.3G> T (p.Met1Ile)SNVPathogenicrs80357475GRCh37Chr 17, 41276111: 41276111
807BRCA1NM_007294.3(BRCA1): c.4001delG (p.Gly1334Valfs)deletionPathogenicrs397509127GRCh37Chr 17, 41243547: 41243547
808BRCA1NM_007294.3(BRCA1): c.4002_4005delTCTG (p.Leu1335Valfs)deletionPathogenicrs397509128GRCh37Chr 17, 41243543: 41243546
809BRCA1NM_007294.3(BRCA1): c.4041_4042delAG (p.Gly1348Asnfs)deletionPathogenicrs80357727GRCh37Chr 17, 41243506: 41243507
810BRCA1NM_007294.3(BRCA1): c.4043delG (p.Gly1348Glufs)deletionPathogenicrs397509130GRCh37Chr 17, 41243505: 41243505
811BRCA1NM_007294.3(BRCA1): c.4049dupG (p.Glu1352Glyfs)duplicationPathogenicrs397509131GRCh37Chr 17, 41243499: 41243499
812BRCA1NM_007294.3(BRCA1): c.4052T> A (p.Leu1351Ter)SNVPathogenicrs397509132GRCh37Chr 17, 41243496: 41243496
813BRCA1NM_007294.3(BRCA1): c.4052dupT (p.Leu1351Phefs)duplicationPathogenicrs80357779GRCh37Chr 17, 41243496: 41243496
814BRCA1NM_007294.3(BRCA1): c.4057G> T (p.Glu1353Ter)SNVPathogenicrs80357178GRCh37Chr 17, 41243491: 41243491
815BRCA1NM_007294.3(BRCA1): c.4057_4061delGAAAA (p.Glu1353Terfs)deletionPathogenicrs397509133GRCh37Chr 17, 41243487: 41243491
816BRCA1NM_007294.3(BRCA1): c.4062_4068delTAATCAA (p.Asn1354Lysfs)deletionPathogenicrs397509134GRCh37Chr 17, 41243480: 41243486
817BRCA1NM_007294.3(BRCA1): c.4066_4069delCAAG (p.Gln1356Lysfs)deletionPathogenicrs397509135GRCh37Chr 17, 41243479: 41243482
818BRCA1NM_007294.3(BRCA1): c.406dupA (p.Arg136Lysfs)duplicationPathogenicrs80357709GRCh37Chr 17, 41256174: 41256174
819BRCA1NM_007294.3(BRCA1): c.4075C> T (p.Gln1359Ter)SNVPathogenicrs80357456GRCh37Chr 17, 41243473: 41243473
820BRCA1NM_007294.3(BRCA1): c.4085delA (p.Asp1362Valfs)deletionPathogenicrs80357737GRCh37Chr 17, 41243463: 41243463
821BRCA1NM_007294.3(BRCA1): c.4092_4093delCT (p.Leu1365Argfs)deletionPathogenicrs397509137GRCh37Chr 17, 41243455: 41243456
822BRCA1NM_007294.3(BRCA1): c.4097-2A> GSNVPathogenicrs80358019GRCh37Chr 17, 41243051: 41243051
823BRCA1NM_007294.3(BRCA1): c.4107_4110dupATCT (p.Gly1371Ilefs)duplicationPathogenicrs397509139GRCh37Chr 17, 41243036: 41243039
824BRCA1NM_007294.3(BRCA1): c.4122_4123delTG (p.Ser1374Argfs)deletionPathogenicrs80357691GRCh37Chr 17, 41243023: 41243024
825BRCA1NM_007294.3(BRCA1): c.4123G> T (p.Glu1375Ter)SNVPathogenicrs80357397GRCh37Chr 17, 41243023: 41243023
826BRCA1NM_007294.3(BRCA1): c.412_418delCTACAGA (p.Leu138Valfs)deletionPathogenicrs80357816GRCh37Chr 17, 41256162: 41256168
827BRCA1NM_007294.3(BRCA1): c.4136_4137delCT (p.Ser1379Terfs)deletionPathogenicrs397509141GRCh37Chr 17, 41243009: 41243010
828BRCA1NM_007294.3(BRCA1): c.4158_4162delCTCTC (p.Ser1387Glufs)deletionPathogenicrs397509142GRCh37Chr 17, 41242984: 41242988
829BRCA1NM_007294.3(BRCA1): c.415C> T (p.Gln139Ter)SNVPathogenicrs80357372GRCh37Chr 17, 41256165: 41256165
830BRCA1NM_007294.3(BRCA1): c.4161_4162delTC (p.Gln1388Glufs)deletionPathogenicrs80357565GRCh37Chr 17, 41242984: 41242985
831BRCA1NM_007294.3(BRCA1): c.4163_4166delAGAG (p.Gln1388Leufs)deletionPathogenicrs80357532GRCh37Chr 17, 41242980: 41242983
832BRCA1NM_007294.3(BRCA1): c.4165_4166delAG (p.Ser1389Terfs)deletionPathogenicrs80357572GRCh37Chr 17, 41242980: 41242981
833BRCA1NM_007294.3(BRCA1): c.4165_4166dupAG (p.Ser1389Argfs)duplicationPathogenicrs397509143GRCh37Chr 17, 41242980: 41242981
834BRCA1NM_007294.3(BRCA1): c.4167_4168delTG (p.Ser1389Argfs)deletionPathogenicrs397509144GRCh37Chr 17, 41242978: 41242979
835BRCA1NM_007294.3(BRCA1): c.4167_4170delTGAC (p.Ser1389Argfs)deletionPathogenicrs80357538GRCh37Chr 17, 41242976: 41242979
836BRCA1NM_007294.3(BRCA1): c.4182_4183dupTC (p.Gln1395Leufs)duplicationPathogenicrs80357742GRCh37Chr 17, 41242963: 41242964
837BRCA1NM_007294.3(BRCA1): c.4183C> T (p.Gln1395Ter)SNVPathogenicrs80357260GRCh37Chr 17, 41242963: 41242963
838BRCA1NM_007294.3(BRCA1): c.4185+1G> TSNVPathogenicrs80358076GRCh37Chr 17, 41242960: 41242960
839BRCA1NM_007294.3(BRCA1): c.4185G> A (p.Gln1395=)SNVPathogenicrs80356857GRCh37Chr 17, 41242961: 41242961
840BRCA1NM_007294.3(BRCA1): c.4185_4185+3delGGTAdeletionPathogenicrs397509149GRCh37Chr 17, 41242958: 41242961
841BRCA1NM_007294.3(BRCA1): c.4186C> T (p.Gln1396Ter)SNVPathogenicrs80357011GRCh37Chr 17, 41234592: 41234592
842BRCA1NM_007294.3(BRCA1): c.4195_4196delAC (p.Thr1399Hisfs)deletionPathogenicrs80357649GRCh37Chr 17, 41234582: 41234583
843BRCA1NM_007294.3(BRCA1): c.4201C> T (p.Gln1401Ter)SNVPathogenicrs397509151GRCh37Chr 17, 41234577: 41234577
844BRCA1NM_007294.3(BRCA1): c.4210delC (p.Leu1404Terfs)deletionPathogenicrs80357765GRCh37Chr 17, 41234568: 41234568
845BRCA1NM_007294.3(BRCA1): c.4222C> T (p.Gln1408Ter)SNVPathogenicrs80356989GRCh37Chr 17, 41234556: 41234556
846BRCA1NM_007294.3(BRCA1): c.4228G> T (p.Glu1410Ter)SNVPathogenicrs397509152GRCh37Chr 17, 41234550: 41234550
847BRCA1NM_007294.3(BRCA1): c.4240dupC (p.Leu1414Profs)duplicationPathogenicrs397509154GRCh37Chr 17, 41234538: 41234538
848BRCA1NM_007294.3(BRCA1): c.4258C> T (p.Gln1420Ter)SNVPathogenicrs80357305GRCh37Chr 17, 41234520: 41234520
849BRCA1NM_007294.3(BRCA1): c.4266dupG (p.Ser1423Glufs)duplicationPathogenicrs397509158GRCh37Chr 17, 41234512: 41234512
850BRCA1NM_007294.3(BRCA1): c.4300dupA (p.Ser1434Lysfs)duplicationPathogenicrs80357790GRCh37Chr 17, 41234478: 41234478
851BRCA1NM_007294.3(BRCA1): c.431delA (p.Asn144Ilefs)deletionPathogenicrs397509162GRCh37Chr 17, 41256149: 41256149
852BRCA1NM_007294.3(BRCA1): c.4321dupG (p.Asp1441Glyfs)duplicationPathogenicrs80357748GRCh37Chr 17, 41234457: 41234457
853BRCA1NM_007294.3(BRCA1): c.4331_4332delAT (p.Asn1444Thrfs)deletionPathogenicrs397509163GRCh37Chr 17, 41234446: 41234447
854BRCA1NM_007294.3(BRCA1): c.4331_4338delATCCAGAA (p.Asn1444Thrfs)deletionPathogenicrs80357825GRCh37Chr 17, 41234440: 41234447
855BRCA1NM_007294.3(BRCA1): c.4335_4338dupAGAA (p.Gln1447Argfs)duplicationPathogenicrs397509164GRCh37Chr 17, 41234440: 41234443
856BRCA1NM_007294.3(BRCA1): c.4339C> T (p.Gln1447Ter)SNVPathogenicrs80357067GRCh37Chr 17, 41234439: 41234439
857BRCA1NM_007294.3(BRCA1): c.4357+1G> CSNVLikely pathogenic, Pathogenicrs80358027GRCh37Chr 17, 41234420: 41234420
858BRCA1NM_007294.3(BRCA1): c.4357+1G> TSNVPathogenicrs80358027GRCh37Chr 17, 41234420: 41234420
859BRCA1NM_007294.3(BRCA1): c.4357+1delGdeletionPathogenicrs397509165GRCh37Chr 17, 41234420: 41234420
860BRCA1NM_007294.3(BRCA1): c.4357+2T> CSNVPathogenicrs80358152GRCh37Chr 17, 41234419: 41234419
861BRCA1NM_007294.3(BRCA1): c.4370C> G (p.Ser1457Ter)SNVPathogenicrs80357130GRCh37Chr 17, 41228619: 41228619
862BRCA1NM_007294.3(BRCA1): c.4372C> T (p.Gln1458Ter)SNVPathogenicrs80356932GRCh37Chr 17, 41228617: 41228617
863BRCA1NM_007294.3(BRCA1): c.4373_4389del17 (p.Gln1458Profs)deletionPathogenicrs80359885GRCh37Chr 17, 41228600: 41228616
864BRCA1NM_007294.3(BRCA1): c.4389C> A (p.Tyr1463Ter)SNVPathogenicrs80356997GRCh37Chr 17, 41228600: 41228600
865BRCA1NM_007294.3(BRCA1): c.4391_4403delCTATAAGCCAGAAinsTT (p.Pro1464Leufs)indelPathogenicrs273900731GRCh37Chr 17, 41228586: 41228598
866BRCA1NM_007294.3(BRCA1): c.4399C> T (p.Gln1467Ter)SNVPathogenicrs397509171GRCh37Chr 17, 41228590: 41228590
867BRCA1NM_007294.3(BRCA1): c.441+1G> ASNVPathogenicrs397509172GRCh37Chr 17, 41256138: 41256138
868BRCA1NM_007294.3(BRCA1): c.4416_4417delTTinsG (p.Ser1473Leufs)indelPathogenicrs397509174GRCh37Chr 17, 41228572: 41228573
869BRCA1NM_007294.3(BRCA1): c.4435delG (p.Val1479Cysfs)deletionPathogenicrs397509176GRCh37Chr 17, 41228554: 41228554
870BRCA1NM_007294.3(BRCA1): c.4456delA (p.Ser1486Valfs)deletionPathogenicrs397509179GRCh37Chr 17, 41228533: 41228533
871BRCA1NM_007294.3(BRCA1): c.4457delG (p.Ser1486Ilefs)deletionPathogenicrs397509180GRCh37Chr 17, 41228532: 41228532
872BRCA1NM_007294.3(BRCA1): c.4480G> T (p.Glu1494Ter)SNVPathogenicrs80357148GRCh37Chr 17, 41228509: 41228509
873BRCA1NM_007294.3(BRCA1): c.4484+1delGdeletionPathogenicrs397509181GRCh37Chr 17, 41228504: 41228504
874BRCA1NM_007294.3(BRCA1): c.4485-1G> ASNVPathogenicrs80358189GRCh37Chr 17, 41226539: 41226539
875BRCA1NM_007294.3(BRCA1): c.4485-2A> GSNVLikely pathogenic, Pathogenicrs80358054GRCh37Chr 17, 41226540: 41226540
876BRCA1NM_007294.3(BRCA1): c.4487C> A (p.Ser1496Ter)SNVPathogenicrs80356953GRCh37Chr 17, 41226536: 41226536
877BRCA1NM_007294.3(BRCA1): c.4487C> G (p.Ser1496Ter)SNVPathogenicrs80356953GRCh37Chr 17, 41226536: 41226536
878BRCA1NM_007294.3(BRCA1): c.4508C> A (p.Ser1503Ter)SNVPathogenicrs80357437GRCh37Chr 17, 41226515: 41226515
879BRCA1NM_007294.3(BRCA1): c.4516delG (p.Asp1506Ilefs)deletionPathogenicrs273900736GRCh37Chr 17, 41226507: 41226507
880BRCA1NM_007294.3(BRCA1): c.4524G> A (p.Trp1508Ter)SNVPathogenicrs80356885GRCh37Chr 17, 41226499: 41226499
881BRCA1NM_007294.3(BRCA1): c.4528delA (p.Met1510Cysfs)deletionPathogenicrs397509182GRCh37Chr 17, 41226495: 41226495
882BRCA1NM_007294.3(BRCA1): c.4533_4534delCA (p.His1511Glnfs)deletionPathogenicrs80357534GRCh37Chr 17, 41226489: 41226490
883BRCA1NM_007294.3(BRCA1): c.4552C> T (p.Gln1518Ter)SNVPathogenicrs80356881GRCh37Chr 17, 41226471: 41226471
884BRCA1NM_007294.3(BRCA1): c.4574_4575delAA (p.Gln1525Argfs)deletionPathogenicrs80357813GRCh37Chr 17, 41226448: 41226449
885BRCA1NM_007294.3(BRCA1): c.4575_4585delAGAGGAGCTCA (p.Gln1525Hisfs)deletionPathogenicrs397509184GRCh37Chr 17, 41226438: 41226448
886BRCA1NM_007294.3(BRCA1): c.4595_4596insCT (p.Asp1533Leufs)insertionPathogenicrs80357699GRCh37Chr 17, 41226427: 41226428
887BRCA1NM_007294.3(BRCA1): c.4603G> T (p.Glu1535Ter)SNVPathogenicrs80357366GRCh37Chr 17, 41226420: 41226420
888BRCA1NM_007294.3(BRCA1): c.4609C> T (p.Gln1537Ter)SNVPathogenicrs80357229GRCh37Chr 17, 41226414: 41226414
889BRCA1NM_007294.3(BRCA1): c.4611_4612insG (p.Gln1538Alafs)insertionPathogenicrs80357915GRCh37Chr 17, 41226411: 41226412
890BRCA1NM_007294.3(BRCA1): c.4612C> T (p.Gln1538Ter)SNVPathogenicrs80356992GRCh37Chr 17, 41226411: 41226411
891BRCA1NM_007294.3(BRCA1): c.4618G> T (p.Glu1540Ter)SNVPathogenicrs80357277GRCh37Chr 17, 41226405: 41226405
892BRCA1NM_007294.3(BRCA1): c.4621G> T (p.Glu1541Ter)SNVPathogenicrs80357248GRCh37Chr 17, 41226402: 41226402
893BRCA1NM_007294.3(BRCA1): c.4625_4626delCT (p.Ser1542Trpfs)deletionPathogenicrs80357542GRCh37Chr 17, 41226397: 41226398
894BRCA1NM_007294.3(BRCA1): c.4655_4658delACTT (p.Tyr1552Cysfs)deletionPathogenicrs80357561GRCh37Chr 17, 41226365: 41226368
895BRCA1NM_007294.3(BRCA1): c.4656C> G (p.Tyr1552Ter)SNVPathogenicrs80357151GRCh37Chr 17, 41226367: 41226367
896BRCA1NM_007294.3(BRCA1): c.4675+1G> ASNVPathogenicrs80358044GRCh37Chr 17, 41226347: 41226347
897BRCA1NM_007294.3(BRCA1): c.4678G> T (p.Gly1560Ter)SNVPathogenicrs80357349GRCh37Chr 17, 41223253: 41223253
898BRCA1NM_007294.3(BRCA1): c.4681delA (p.Thr1561Profs)deletionPathogenicrs397509187GRCh37Chr 17, 41223250: 41223250
899BRCA1NM_007294.3(BRCA1): c.4684_4685delCC (p.Pro1562Leufs)deletionPathogenicrs397509188GRCh37Chr 17, 41223246: 41223247
900BRCA1NM_007294.3(BRCA1): c.4695dupA (p.Ser1566Ilefs)duplicationPathogenicrs397509189GRCh37Chr 17, 41223236: 41223236
901BRCA1NM_007294.3(BRCA1): c.4712_4716delTCTCT (p.Phe1571Terfs)deletionPathogenicrs80357718GRCh37Chr 17, 41223215: 41223219
902BRCA1NM_007294.3(BRCA1): c.4724delC (p.Pro1575Leufs)deletionPathogenicrs397509191GRCh37Chr 17, 41223207: 41223207
903BRCA1NM_007294.3(BRCA1): c.4741G> T (p.Glu1581Ter)SNVPathogenicrs397509193GRCh37Chr 17, 41223190: 41223190
904BRCA1NM_007294.3(BRCA1): c.4745delA (p.Asp1582Alafs)deletionPathogenicrs80357907GRCh37Chr 17, 41223186: 41223186
905BRCA1NM_007294.3(BRCA1): c.4754_4755delCA (p.Pro1585Argfs)deletionPathogenicrs80357837GRCh37Chr 17, 41223176: 41223177
906BRCA1NM_007294.3(BRCA1): c.4760C> G (p.Ser1587Ter)SNVPathogenicrs397509195GRCh37Chr 17, 41223171: 41223171
907BRCA1NM_007294.3(BRCA1): c.4801A> T (p.Lys1601Ter)SNVPathogenicrs80357303GRCh37Chr 17, 41223130: 41223130
908BRCA1NM_007294.3(BRCA1): c.4810C> T (p.Gln1604Ter)SNVPathogenicrs80357352GRCh37Chr 17, 41223121: 41223121
909BRCA1NM_007294.3(BRCA1): c.4837delA (p.Ser1613Valfs)deletionPathogenicrs397509199GRCh37Chr 17, 41223094: 41223094
910BRCA1NM_007294.3(BRCA1): c.4838_4839insC (p.Pro1614Serfs)insertionPathogenicrs397509200GRCh37Chr 17, 41223092: 41223093
911BRCA1NM_007294.3(BRCA1): c.485_486delTG (p.Val162Glufs)deletionPathogenicrs80357708GRCh37Chr 17, 41251853: 41251854
912BRCA1NM_007294.3(BRCA1): c.4873_4885delTATAATGCAATGG (p.Tyr1625Lysfs)deletionPathogenicrs397509201GRCh37Chr 17, 41223046: 41223058
913BRCA1NM_007294.3(BRCA1): c.4903G> T (p.Glu1635Ter)SNVPathogenicrs200432771GRCh37Chr 17, 41223028: 41223028
914BRCA1NM_007294.3(BRCA1): c.4905_4906delGA (p.Lys1636Alafs)deletionPathogenicrs397509203GRCh37Chr 17, 41223025: 41223026
915BRCA1NM_007294.3(BRCA1): c.4930G> T (p.Glu1644Ter)SNVPathogenicrs397509205GRCh37Chr 17, 41223001: 41223001
916BRCA1NM_007294.3(BRCA1): c.4936delG (p.Val1646Serfs)deletionPathogenicrs80357653GRCh37Chr 17, 41222995: 41222995
917BRCA1NM_007294.3(BRCA1): c.493_494delCT (p.Leu165Glufs)deletionPathogenicrs397509206GRCh37Chr 17, 41251845: 41251846
918BRCA1NM_007294.3(BRCA1): c.493delC (p.Leu165Terfs)deletionPathogenicrs80357551GRCh37Chr 17, 41251846: 41251846
919BRCA1NM_007294.3(BRCA1): c.4941delC (p.Asn1647Lysfs)deletionPathogenicrs80357905GRCh37Chr 17, 41222990: 41222990
920BRCA1NM_007294.3(BRCA1): c.4945_4947delAGAinsTTTT (p.Arg1649Phefs)indelPathogenicrs397509207GRCh37Chr 17, 41222984: 41222986
921BRCA1NM_007294.3(BRCA1): c.4945delA (p.Arg1649Glufs)deletionPathogenicrs80357761GRCh37Chr 17, 41222986: 41222986
922BRCA1NM_007294.3(BRCA1): c.494dupT (p.Arg166Glufs)duplicationPathogenicrs80357762GRCh37Chr 17, 41251845: 41251845
923BRCA1NM_007294.3(BRCA1): c.4964_4979del16 (p.Ser1655Terfs)deletionPathogenicrs397509209GRCh37Chr 17, 41222952: 41222967
924BRCA1NM_007294.3(BRCA1): c.4981G> T (p.Glu1661Ter)SNVPathogenicrs80357401GRCh37Chr 17, 41222950: 41222950
925BRCA1NM_007294.3(BRCA1): c.4986+2T> CSNVPathogenicrs397509210GRCh37Chr 17, 41222943: 41222943
926BRCA1NM_007294.3(BRCA1): c.4986+3G> CSNVLikely pathogenic, Pathogenicrs80358023GRCh37Chr 17, 41222942: 41222942
927BRCA1NM_007294.3(BRCA1): c.4986+4A> TSNVLikely pathogenic, Pathogenicrs80358087GRCh37Chr 17, 41222941: 41222941
928BRCA1NM_007294.3(BRCA1): c.4986+6T> GSNVLikely pathogenic, Pathogenicrs80358086GRCh37Chr 17, 41222939: 41222939
929BRCA1NM_007294.3(BRCA1): c.4987-2A> GSNVPathogenicrs397509212GRCh37Chr 17, 41219714: 41219714
930BRCA1NM_007294.3(BRCA1): c.4987-5T> ASNVPathogenicrs397509214GRCh37Chr 17, 41219717: 41219717
931BRCA1NM_007294.3(BRCA1): c.4999A> T (p.Lys1667Ter)SNVPathogenicrs80357204GRCh37Chr 17, 41219700: 41219700
932BRCA1NM_007294.3(BRCA1): c.5005delG (p.Ala1669Profs)deletionPathogenicrs80357938GRCh37Chr 17, 41219694: 41219694
933BRCA1NM_007294.3(BRCA1): c.5026_5036delTTAACTAATCT (p.Leu1676Asnfs)deletionPathogenicrs80357894GRCh37Chr 17, 41219663: 41219673
934BRCA1NM_007294.3(BRCA1): c.5027dupT (p.Leu1676Phefs)duplicationPathogenicrs397509217GRCh37Chr 17, 41219672: 41219672
935BRCA1NM_007294.3(BRCA1): c.5035delC (p.Leu1679Terfs)deletionPathogenicrs80357896GRCh37Chr 17, 41219664: 41219664
936BRCA1NM_007294.3(BRCA1): c.5040delT (p.Thr1681Leufs)deletionPathogenicrs80357673GRCh37Chr 17, 41219659: 41219659
937BRCA1NM_007294.3(BRCA1): c.5047G> T (p.Glu1683Ter)SNVPathogenicrs80356879GRCh37Chr 17, 41219652: 41219652
938BRCA1NM_007294.3(BRCA1): c.5053A> G (p.Thr1685Ala)SNVPathogenicrs80356890GRCh37Chr 17, 41219646: 41219646
939BRCA1NM_007294.3(BRCA1): c.5054C> T (p.Thr1685Ile)SNVPathogenicrs80357043GRCh37Chr 17, 41219645: 41219645
940BRCA1NM_007294.3(BRCA1): c.505C> T (p.Gln169Ter)SNVPathogenicrs80357133GRCh37Chr 17, 41251834: 41251834
941BRCA1NM_007294.3(BRCA1): c.5071dupA (p.Thr1691Asnfs)duplicationPathogenicrs80357672GRCh37Chr 17, 41219628: 41219628
942BRCA1NM_007294.3(BRCA1): c.5074G> T (p.Asp1692Tyr)SNVPathogenicrs80187739GRCh37Chr 17, 41219625: 41219625
943BRCA1NM_007294.3(BRCA1): c.5075-1G> ASNVPathogenicrs1800747GRCh37Chr 17, 41215969: 41215969
944BRCA1NM_007294.3(BRCA1): c.5075-2A> CSNVPathogenicrs80358066GRCh37Chr 17, 41215970: 41215970
945BRCA1NM_007294.3(BRCA1): c.5075-2A> TSNVPathogenicrs80358066GRCh37Chr 17, 41215970: 41215970
946BRCA1NM_007294.3(BRCA1): c.5075-8T> GSNVPathogenicrs397509221GRCh37Chr 17, 41215976: 41215976
947BRCA1NM_007294.3(BRCA1): c.5078_5080delCTG (p.Ala1693del)deletionLikely pathogenic, Pathogenicrs80358345GRCh37Chr 17, 41215963: 41215965
948BRCA1NM_007294.3(BRCA1): c.5080G> T (p.Glu1694Ter)SNVPathogenicrs80356896GRCh37Chr 17, 41215963: 41215963
949BRCA1NM_007294.3(BRCA1): c.5084_5085delTT (p.Phe1695Cysfs)deletionPathogenicrs80357760GRCh37Chr 17, 41215958: 41215959
950BRCA1NM_007294.3(BRCA1): c.5091_5092delTG (p.Cys1697Terfs)deletionPathogenicrs80357710GRCh37Chr 17, 41215951: 41215952
951BRCA1NM_007294.3(BRCA1): c.5095C> T (p.Arg1699Trp)SNVPathogenicrs55770810GRCh37Chr 17, 41215948: 41215948
952BRCA1NM_007294.3(BRCA1): c.5102_5103delTG (p.Leu1701Glnfs)deletionPathogenicrs80357608GRCh37Chr 17, 41215940: 41215941
953BRCA1NM_007294.3(BRCA1): c.5106delA (p.Lys1702Asnfs)deletionPathogenicrs80357553GRCh37Chr 17, 41215937: 41215937
954BRCA1NM_007294.3(BRCA1): c.5109T> G (p.Tyr1703Ter)SNVPathogenicrs80356974GRCh37Chr 17, 41215934: 41215934
955BRCA1NM_007294.3(BRCA1): c.5112delT (p.Leu1705Terfs)deletionPathogenicrs397509228GRCh37Chr 17, 41215931: 41215931
956BRCA1NM_007294.3(BRCA1): c.5123C> A (p.Ala1708Glu)SNVPathogenicrs28897696GRCh37Chr 17, 41215920: 41215920
957BRCA1NM_007294.3(BRCA1): c.5126delG (p.Gly1709Glufs)deletionPathogenicrs80357874GRCh37Chr 17, 41215917: 41215917
958BRCA1NM_007294.3(BRCA1): c.5128G> T (p.Gly1710Ter)SNVPathogenicrs397509229GRCh37Chr 17, 41215915: 41215915
959BRCA1NM_007294.3(BRCA1): c.5136G> A (p.Trp1712Ter)SNVPathogenicrs80357418GRCh37Chr 17, 41215907: 41215907
960BRCA1NM_007294.3(BRCA1): c.5137delG (p.Val1713Terfs)deletionPathogenicrs80357997GRCh37Chr 17, 41215906: 41215906
961BRCA1NM_007294.3(BRCA1): c.5143A> C (p.Ser1715Arg)SNVPathogenicrs80357222GRCh37Chr 17, 41215900: 41215900
962BRCA1NM_007294.3(BRCA1): c.514C> T (p.Gln172Ter)SNVPathogenicrs80356947GRCh37Chr 17, 41251825: 41251825
963BRCA1NM_007294.3(BRCA1): c.514delC (p.Gln172Asnfs)deletionPathogenicrs80357872GRCh37Chr 17, 41251825: 41251825
964BRCA1NM_007294.3(BRCA1): c.5150delT (p.Phe1717Serfs)deletionPathogenicrs80357720GRCh37Chr 17, 41215893: 41215893
965BRCA1NM_007294.3(BRCA1): c.5152+1G> TSNVPathogenicrs80358094GRCh37Chr 17, 41215890: 41215890
966BRCA1NM_007294.3(BRCA1): c.5152+2dupTduplicationLikely pathogenic, Pathogenicrs397509231GRCh37Chr 17, 41215889: 41215889
967BRCA1NM_007294.3(BRCA1): c.5152+3A> CSNVPathogenicrs80358124GRCh37Chr 17, 41215888: 41215888
968BRCA1NM_007294.3(BRCA1): c.5152+5G> ASNVLikely pathogenic, Pathogenicrs80358165GRCh37Chr 17, 41215886: 41215886
969BRCA1NM_007294.3(BRCA1): c.5153-1G> ASNVPathogenicrs80358137GRCh37Chr 17, 41215391: 41215391
970BRCA1NM_007294.3(BRCA1): c.5153-2delAdeletionPathogenicrs273901746GRCh37Chr 17, 41215392: 41215392
971BRCA1NM_007294.3(BRCA1): c.5153G> A (p.Trp1718Ter)SNVPathogenicrs41293461GRCh37Chr 17, 41215390: 41215390
972BRCA1NM_007294.3(BRCA1): c.5154G> A (p.Trp1718Ter)SNVPathogenicrs80357239GRCh37Chr 17, 41215389: 41215389
973BRCA1NM_007294.3(BRCA1): c.5155delG (p.Val1719Terfs)deletionPathogenicrs80357743GRCh37Chr 17, 41215388: 41215388
974BRCA1NM_007294.3(BRCA1): c.5156_5157delTG (p.Val1719Aspfs)deletionPathogenicrs80357895GRCh37Chr 17, 41215386: 41215387
975BRCA1NM_007294.3(BRCA1): c.5162delA (p.Gln1721Argfs)deletionPathogenicrs397509233GRCh37Chr 17, 41215381: 41215381
976BRCA1NM_007294.3(BRCA1): c.5165C> T (p.Ser1722Phe)SNVLikely pathogenic, Pathogenicrs80357104GRCh37Chr 17, 41215378: 41215378
977BRCA1NM_007294.3(BRCA1): c.5173G> T (p.Glu1725Ter)SNVPathogenicrs80357291GRCh37Chr 17, 41215370: 41215370
978BRCA1NM_007294.3(BRCA1): c.5177_5178delGA (p.Arg1726Lysfs)deletionPathogenicrs80357730GRCh37Chr 17, 41215365: 41215366
979BRCA1NM_007294.3(BRCA1): c.5193+1G> CSNVPathogenicrs80358004GRCh37Chr 17, 41215349: 41215349
980BRCA1NM_007294.3(BRCA1): c.5193+1delGdeletionPathogenicrs397509236GRCh37Chr 17, 41215349: 41215349
981BRCA1NM_007294.3(BRCA1): c.5193+2delTdeletionPathogenicrs273901751GRCh37Chr 17, 41215348: 41215348
982BRCA1NM_007294.3(BRCA1): c.5194-12G> ASNVPathogenicrs80358079GRCh37Chr 17, 41209164: 41209164
983BRCA1NM_007294.3(BRCA1): c.5209A> T (p.Arg1737Ter)SNVPathogenicrs80357496GRCh37Chr 17, 41209137: 41209137
984BRCA1NM_007294.3(BRCA1): c.5209_5248del40insTC (p.Arg1737Serfs)indelPathogenicrs273901753GRCh37Chr 17, 41209098: 41209137
985BRCA1NM_007294.3(BRCA1): c.520delC (p.Gln174Lysfs)deletionPathogenicrs80357639GRCh37Chr 17, 41251819: 41251819
986BRCA1NM_007294.3(BRCA1): c.5212G> A (p.Gly1738Arg)SNVPathogenicrs80356937GRCh37Chr 17, 41209134: 41209134
987BRCA1NM_007294.3(BRCA1): c.5213G> A (p.Gly1738Glu)SNVLikely pathogenic, Pathogenicrs80357450GRCh37Chr 17, 41209133: 41209133
988BRCA1NM_007294.3(BRCA1): c.5229_5230delAA (p.Arg1744Lysfs)deletionPathogenicrs80357852GRCh37Chr 17, 41209116: 41209117
989BRCA1NM_007294.3(BRCA1): c.5239C> T (p.Gln1747Ter)SNVPathogenicrs80357367GRCh37Chr 17, 41209107: 41209107
990BRCA1NM_007294.3(BRCA1): c.5243delG (p.Gly1748Valfs)deletionPathogenicrs80357676GRCh37Chr 17, 41209103: 41209103
991BRCA1NM_007294.3(BRCA1): c.5251C> T (p.Arg1751Ter)SNVPathogenicrs80357123GRCh37Chr 17, 41209095: 41209095
992BRCA1NM_007294.3(BRCA1): c.5257dupA (p.Arg1753Lysfs)duplicationPathogenicrs397509245GRCh37Chr 17, 41209089: 41209089
993BRCA1NM_007294.3(BRCA1): c.5260G> T (p.Glu1754Ter)SNVPathogenicrs80357432GRCh37Chr 17, 41209086: 41209086
994BRCA1NM_007294.3(BRCA1): c.5266C> T (p.Gln1756Ter)SNVPathogenicrs397509247GRCh37Chr 17, 41209080: 41209080
995BRCA1NM_007294.3(BRCA1): c.5278-1G> ASNVPathogenicrs80358099GRCh37Chr 17, 41203135: 41203135
996BRCA1NM_007294.3(BRCA1): c.5278-1G> CSNVPathogenicrs80358099GRCh37Chr 17, 41203135: 41203135
997BRCA1NM_007294.3(BRCA1): c.5278-1G> TSNVPathogenicrs80358099GRCh37Chr 17, 41203135: 41203135
998BRCA1NM_007294.3(BRCA1): c.5284delA (p.Arg1762Glyfs)deletionPathogenicrs80357684GRCh37Chr 17, 41203128: 41203128
999BRCA1NM_007294.3(BRCA1): c.5289delG (p.Leu1764Terfs)deletionPathogenicrs397509255GRCh37Chr 17, 41203123: 41203123
1000BRCA1NM_007294.3(BRCA1): c.5291T> C (p.Leu1764Pro)SNVPathogenicrs80357281GRCh37Chr 17, 41203121: 41203121
1001BRCA1NM_007294.3(BRCA1): c.529delT (p.Ser177Leufs)deletionPathogenicrs80357758GRCh37Chr 17, 41251810: 41251810
1002BRCA1NM_007294.3(BRCA1): c.5307T> A (p.Tyr1769Ter)SNVPathogenicrs397509258GRCh37Chr 17, 41203105: 41203105
1003BRCA1NM_007294.3(BRCA1): c.5310delG (p.Phe1772Serfs)deletionPathogenicrs80357581GRCh37Chr 17, 41203102: 41203102
1004BRCA1NM_007294.3(BRCA1): c.5315delT (p.Phe1772Serfs)deletionPathogenicrs397509261GRCh37Chr 17, 41203097: 41203097
1005BRCA1NM_007294.3(BRCA1): c.5319dupC (p.Asn1774Glnfs)duplicationPathogenicrs80357823GRCh37Chr 17, 41203093: 41203093
1006BRCA1NM_007294.3(BRCA1): c.5320_5321delAA (p.Asn1774Hisfs)deletionPathogenicrs80357818GRCh37Chr 17, 41203091: 41203092
1007BRCA1NM_007294.3(BRCA1): c.5328dupC (p.Thr1777Hisfs)duplicationPathogenicrs80357751GRCh37Chr 17, 41203084: 41203084
1008BRCA1NM_007294.3(BRCA1): c.5332+1G> ASNVPathogenicrs80358041GRCh37Chr 17, 41203079: 41203079
1009BRCA1NM_007294.3(BRCA1): c.5332G> A (p.Asp1778Asn)SNVPathogenicrs80357112GRCh37Chr 17, 41203080: 41203080
1010BRCA1NM_007294.3(BRCA1): c.5333-1G> CSNVPathogenicrs80358126GRCh37Chr 17, 41201212: 41201212
1011BRCA1NM_007294.3(BRCA1): c.5333-2A> CSNVPathogenicrs397509264GRCh37Chr 17, 41201213: 41201213
1012BRCA1NM_007294.3(BRCA1): c.5333-3T> GSNVPathogenicrs397509265GRCh37Chr 17, 41201214: 41201214
1013BRCA1NM_007294.3(BRCA1): c.5335C> T (p.Gln1779Ter)SNVPathogenicrs397509267GRCh37Chr 17, 41201209: 41201209
1014BRCA1NM_007294.3(BRCA1): c.5339T> C (p.Leu1780Pro)SNVPathogenicrs80357474GRCh37Chr 17, 41201205: 41201205
1015BRCA1NM_007294.3(BRCA1): c.5341G> T (p.Glu1781Ter)SNVPathogenicrs397509268GRCh37Chr 17, 41201203: 41201203
1016BRCA1NM_007294.3(BRCA1): c.5341delG (p.Glu1781Asnfs)deletionPathogenicrs80357694GRCh37Chr 17, 41201203: 41201203
1017BRCA1NM_007294.3(BRCA1): c.5345G> A (p.Trp1782Ter)SNVPathogenicrs80357219GRCh37Chr 17, 41201199: 41201199
1018BRCA1NM_007294.3(BRCA1): c.5353C> T (p.Gln1785Ter)SNVPathogenicrs80356969GRCh37Chr 17, 41201191: 41201191
1019BRCA1NM_007294.3(BRCA1): c.5359T> A (p.Cys1787Ser)SNVPathogenicrs80357065GRCh37Chr 17, 41201185: 41201185
1020BRCA1NM_007294.3(BRCA1): c.5360_5361delGTinsAG (p.Cys1787Ter)indelPathogenicrs397509270GRCh37Chr 17, 41201183: 41201184
1021BRCA1NM_007294.3(BRCA1): c.5386dupT (p.Ser1796Phefs)duplicationPathogenicrs80357838GRCh37Chr 17, 41201158: 41201158
1022BRCA1NM_007294.3(BRCA1): c.5406+1_5406+3delGTAdeletionPathogenicrs397509277GRCh37Chr 17, 41201135: 41201137
1023BRCA1NM_007294.3(BRCA1): c.5406+3A> TSNVPathogenicrs397509278GRCh37Chr 17, 41201135: 41201135
1024BRCA1NM_007294.3(BRCA1): c.5407-2A> GSNVPathogenicrs80358002GRCh37Chr 17, 41199722: 41199722
1025BRCA1NM_007294.3(BRCA1): c.5419delA (p.Ile1807Leufs)deletionPathogenicrs80357934GRCh37Chr 17, 41199708: 41199708
1026BRCA1NM_007294.3(BRCA1): c.5431C> T (p.Gln1811Ter)SNVPathogenicrs397509283GRCh37Chr 17, 41199696: 41199696
1027BRCA1NM_007294.3(BRCA1): c.5440delG (p.Ala1814Profs)deletionPathogenicrs80357946GRCh37Chr 17, 41199687: 41199687
1028BRCA1NM_007294.3(BRCA1): c.5444G> A (p.Trp1815Ter)SNVPathogenicrs80356962GRCh37Chr 17, 41199683: 41199683
1029BRCA1NM_007294.3(BRCA1): c.5445G> A (p.Trp1815Ter)SNVPathogenicrs397509284GRCh37Chr 17, 41199682: 41199682
1030BRCA1NM_007294.3(BRCA1): c.5449G> T (p.Glu1817Ter)SNVPathogenicrs80356868GRCh37Chr 17, 41199678: 41199678
1031BRCA1NM_007294.3(BRCA1): c.5450_5451delAG (p.Glu1817Glyfs)deletionPathogenicrs397509286GRCh37Chr 17, 41199676: 41199677
1032BRCA1NM_007294.3(BRCA1): c.5467G> A (p.Ala1823Thr)SNVPathogenicrs80357212GRCh37Chr 17, 41199660: 41199660
1033BRCA1NM_007294.3(BRCA1): c.547+1G> TSNVLikely pathogenic, Pathogenicrs80358030GRCh37Chr 17, 41251791: 41251791
1034BRCA1NM_007294.3(BRCA1): c.5470_5477delATTGGGCA (p.Ile1824Aspfs)deletionPathogenicrs80357973GRCh37Chr 17, 41197810: 41197817
1035BRCA1NM_007294.3(BRCA1): c.5483delG (p.Cys1828Leufs)deletionPathogenicrs397509288GRCh37Chr 17, 41197804: 41197804
1036BRCA1NM_007294.3(BRCA1): c.5492delC (p.Pro1831Leufs)deletionPathogenicrs80357582GRCh37Chr 17, 41197795: 41197795
1037BRCA1NM_007294.3(BRCA1): c.5496_5506delGGTGACCCGAGinsA (p.Val1833Serfs)indelPathogenicrs273902775GRCh37Chr 17, 41197781: 41197791
1038BRCA1NM_007294.3(BRCA1): c.5497G> A (p.Val1833Met)SNVLikely pathogenic, Pathogenicrs80357268GRCh37Chr 17, 41197790: 41197790
1039BRCA1NM_007294.3(BRCA1): c.5503C> T (p.Arg1835Ter)SNVPathogenicrs41293465GRCh37Chr 17, 41197784: 41197784
1040BRCA1NM_007294.3(BRCA1): c.5503_5564del62 (p.Arg1835Thrfs)deletionPathogenicrs80359883GRCh37Chr 17, 41197723: 41197784
1041BRCA1NM_007294.3(BRCA1): c.5503delC (p.Arg1835Glufs)deletionPathogenicrs397509291GRCh37Chr 17, 41197784: 41197784
1042BRCA1NM_007294.3(BRCA1): c.5506G> T (p.Glu1836Ter)SNVPathogenicrs80356942GRCh37Chr 17, 41197781: 41197781
1043BRCA1NM_007294.3(BRCA1): c.5510G> A (p.Trp1837Ter)SNVPathogenicrs80357307GRCh37Chr 17, 41197777: 41197777
1044BRCA1NM_007294.3(BRCA1): c.5511G> A (p.Trp1837Ter)SNVPathogenicrs80356914GRCh37Chr 17, 41197776: 41197776
1045BRCA1NM_007294.3(BRCA1): c.5512delG (p.Val1838Cysfs)deletionPathogenicrs80357839GRCh37Chr 17, 41197775: 41197775
1046BRCA1NM_007294.3(BRCA1): c.5513T> A (p.Val1838Glu)SNVPathogenicrs80357107GRCh37Chr 17, 41197774: 41197774
1047BRCA1NM_007294.3(BRCA1): c.5521delA (p.Ser1841Valfs)deletionPathogenicrs80357721GRCh37Chr 17, 41197766: 41197766
1048BRCA1NM_007294.3(BRCA1): c.5535C> A (p.Tyr1845Ter)SNVPathogenicrs80356977GRCh37Chr 17, 41197752: 41197752
1049BRCA1NM_007294.3(BRCA1): c.5536C> T (p.Gln1846Ter)SNVPathogenicrs80356873GRCh37Chr 17, 41197751: 41197751
1050BRCA1NM_007294.3(BRCA1): c.5541C> A (p.Cys1847Ter)SNVPathogenicrs397509295GRCh37Chr 17, 41197746: 41197746
1051BRCA1NM_007294.3(BRCA1): c.5548delC (p.Leu1850Trpfs)deletionPathogenicrs397509296GRCh37Chr 17, 41197739: 41197739
1052BRCA1NM_007294.3(BRCA1): c.5553dupC (p.Thr1852Hisfs)duplicationPathogenicrs397509297GRCh37Chr 17, 41197734: 41197734
1053BRCA1NM_007294.3(BRCA1): c.5558dupA (p.Tyr1853Terfs)duplicationPathogenicrs80357629GRCh37Chr 17, 41197729: 41197729
1054BRCA1NM_007294.3(BRCA1): c.5559C> A (p.Tyr1853Ter)SNVPathogenicrs80357336GRCh37Chr 17, 41197728: 41197728
1055BRCA1NM_007294.3(BRCA1): c.55C> T (p.Gln19Ter)SNVPathogenicrs397509299GRCh37Chr 17, 41276059: 41276059
1056BRCA1NM_007294.3(BRCA1): c.569_570insAACG (p.Val191Thrfs)insertionPathogenicrs397509300GRCh37Chr 17, 41249284: 41249285
1057BRCA1NM_007294.3(BRCA1): c.61delA (p.Ile21Serfs)deletionPathogenicrs273902778GRCh37Chr 17, 41276053: 41276053
1058BRCA1NM_007294.3(BRCA1): c.65T> C (p.Leu22Ser)SNVPathogenicrs80357438GRCh37Chr 17, 41276049: 41276049
1059BRCA1NM_007294.3(BRCA1): c.667_668delAA (p.Lys223Glyfs)deletionPathogenicrs397509305GRCh37Chr 17, 41247865: 41247866
1060BRCA1NM_007294.3(BRCA1): c.668delA (p.Lys223Argfs)deletionPathogenicrs80357745GRCh37Chr 17, 41247865: 41247865
1061BRCA1NM_007294.3(BRCA1): c.671-1G> ASNVPathogenicrs80358020GRCh37Chr 17, 41246878: 41246878
1062BRCA1NM_007294.3(BRCA1): c.671-2A> CSNVPathogenicrs80358108GRCh37Chr 17, 41246879: 41246879
1063BRCA1NM_007294.3(BRCA1): c.678T> A (p.Cys226Ter)SNVPathogenicrs397509308GRCh37Chr 17, 41246870: 41246870
1064BRCA1NM_007294.3(BRCA1): c.685delT (p.Ser229Leufs)deletionPathogenicrs80357824GRCh37Chr 17, 41246863: 41246863
1065BRCA1NM_007294.3(BRCA1): c.68_69dupAG (p.Cys24Serfs)duplicationPathogenicrs80357914GRCh37Chr 17, 41276045: 41276046
1066BRCA1NM_007294.3(BRCA1): c.68dupA (p.Cys24Valfs)duplicationPathogenicrs397509309GRCh37Chr 17, 41276046: 41276046
1067BRCA1NM_007294.3(BRCA1): c.70_73dupTGTC (p.Pro25Leufs)duplicationPathogenicrs397509310GRCh37Chr 17, 41276041: 41276044
1068BRCA1NM_007294.3(BRCA1): c.70_80delTGTCCCATCTG (p.Cys24Serfs)deletionPathogenicrs80357696GRCh37Chr 17, 41276034: 41276044
1069BRCA1NM_007294.3(BRCA1): c.731delA (p.Asn244Metfs)deletionPathogenicrs80357700GRCh37Chr 17, 41246817: 41246817
1070BRCA1NM_007294.3(BRCA1): c.737delT (p.Leu246Terfs)deletionPathogenicrs397509312GRCh37Chr 17, 41246811: 41246811
1071BRCA1NM_007294.3(BRCA1): c.763G> T (p.Glu255Ter)SNVPathogenicrs80357009GRCh37Chr 17, 41246785: 41246785
1072BRCA1NM_007294.3(BRCA1): c.775delG (p.Glu259Lysfs)deletionPathogenicrs80357628GRCh37Chr 17, 41246773: 41246773
1073BRCA1NM_007294.3(BRCA1): c.791_794delGTTC (p.Ser264Metfs)deletionPathogenicrs80357707GRCh37Chr 17, 41246754: 41246757
1074BRCA1NM_007294.3(BRCA1): c.794_795delCT (p.Ser265Cysfs)deletionPathogenicrs80357955GRCh37Chr 17, 41246753: 41246754
1075BRCA1NM_007294.3(BRCA1): c.799dupT (p.Ser267Phefs)duplicationPathogenicrs397509323GRCh37Chr 17, 41246749: 41246749
1076BRCA1NM_007294.3(BRCA1): c.80+1G> ASNVPathogenicrs80358010GRCh37Chr 17, 41276033: 41276033
1077BRCA1NM_007294.3(BRCA1): c.800C> G (p.Ser267Ter)SNVPathogenicrs80357392GRCh37Chr 17, 41246748: 41246748
1078BRCA1NM_007294.3(BRCA1): c.809delA (p.His270Leufs)deletionPathogenicrs80357965GRCh37Chr 17, 41246739: 41246739
1079BRCA1NM_007294.3(BRCA1): c.81-1G> CSNVPathogenicrs80358018GRCh37Chr 17, 41267797: 41267797
1080BRCA1NM_007294.3(BRCA1): c.81-2A> GSNVPathogenicrs397509326GRCh37Chr 17, 41267798: 41267798
1081BRCA1NM_007294.3(BRCA1): c.81-2delAdeletionPathogenicrs273902791GRCh37Chr 17, 41267798: 41267798
1082BRCA1NM_007294.3(BRCA1): c.815_824dupAGCCATGTGG (p.Thr276Alafs)duplicationPathogenicrs387906563GRCh37Chr 17, 41246724: 41246733
1083BRCA1NM_007294.3(BRCA1): c.822T> A (p.Cys274Ter)SNVPathogenicrs80357331GRCh37Chr 17, 41246726: 41246726
1084BRCA1NM_007294.3(BRCA1): c.835delC (p.His279Metfs)deletionPathogenicrs80357523GRCh37Chr 17, 41246713: 41246713
1085BRCA1NM_007294.3(BRCA1): c.83_84delTG (p.Leu28Argfs)deletionPathogenicrs80357728GRCh37Chr 17, 41267793: 41267794
1086BRCA1NM_007294.3(BRCA1): c.844_850dupTCATTAC (p.Gln284Leufs)duplicationPathogenicrs80357989GRCh37Chr 17, 41246698: 41246704
1087BRCA1NM_007294.3(BRCA1): c.848T> A (p.Leu283Ter)SNVPathogenicrs273902792GRCh37Chr 17, 41246700: 41246700
1088BRCA1NM_007294.3(BRCA1): c.848T> G (p.Leu283Ter)SNVPathogenicrs273902792GRCh37Chr 17, 41246700: 41246700
1089BRCA1NM_007294.3(BRCA1): c.850C> T (p.Gln284Ter)SNVPathogenicrs397509330GRCh37Chr 17, 41246698: 41246698
1090BRCA1NM_007294.3(BRCA1): c.851_852delAG (p.Gln284Profs)deletionPathogenicrs80357719GRCh37Chr 17, 41246696: 41246697
1091BRCA1NM_007294.3(BRCA1): c.895_896delGT (p.Val299Argfs)deletionPathogenicrs80357670GRCh37Chr 17, 41246652: 41246653
1092BRCA1NM_007294.3(BRCA1): c.89T> A (p.Leu30Ter)SNVPathogenicrs397509331GRCh37Chr 17, 41267788: 41267788
1093BRCA1NM_007294.3(BRCA1): c.904delG (p.Ala302Leufs)deletionPathogenicrs273903793GRCh37Chr 17, 41246644: 41246644
1094BRCA1NM_007294.3(BRCA1): c.911delT (p.Phe304Serfs)deletionPathogenicrs80357622GRCh37Chr 17, 41246637: 41246637
1095BRCA1NM_007294.3(BRCA1): c.922_923delAG (p.Ser308Glnfs)deletionPathogenicrs80357644GRCh37Chr 17, 41246625: 41246626
1096BRCA1NM_007294.3(BRCA1): c.922_924delAGCinsT (p.Ser308Terfs)indelPathogenicrs397509335GRCh37Chr 17, 41246624: 41246626
1097BRCA1NM_007294.3(BRCA1): c.923delG (p.Ser308Thrfs)deletionPathogenicrs80357953GRCh37Chr 17, 41246625: 41246625
1098BRCA1NM_007294.3(BRCA1): c.924delC (p.Ser308Argfs)deletionPathogenicrs397509336GRCh37Chr 17, 41246624: 41246624
1099BRCA1NM_007294.3(BRCA1): c.927delA (p.Lys309Asnfs)deletionPathogenicrs397509337GRCh37Chr 17, 41246621: 41246621
1100BRCA1NM_007294.3(BRCA1): c.928C> T (p.Gln310Ter)SNVPathogenicrs397509338GRCh37Chr 17, 41246620: 41246620
1101BRCA1NM_007294.3(BRCA1): c.930delG (p.Gln310Hisfs)deletionPathogenicrs80357689GRCh37Chr 17, 41246618: 41246618
1102BRCA1NM_007294.3(BRCA1): c.949C> T (p.Gln317Ter)SNVPathogenicrs80357211GRCh37Chr 17, 41246599: 41246599
1103BRCA1NM_007294.3(BRCA1): c.949_953delCAACA (p.Gln317Terfs)deletionPathogenicrs80357555GRCh37Chr 17, 41246595: 41246599
1104BRCA1NM_007294.3(BRCA1): c.959_960delGA (p.Arg320Metfs)deletionPathogenicrs397509339GRCh37Chr 17, 41246588: 41246589
1105BRCA1NM_007294.3(BRCA1): c.964delG (p.Ala322Leufs)deletionPathogenicrs273903794GRCh37Chr 17, 41246584: 41246584
1106BRCA1NM_007294.3(BRCA1): c.980_981delCA (p.Thr327Metfs)deletionPathogenicrs80357610GRCh37Chr 17, 41246567: 41246568
1107BRCA1NM_007294.3(BRCA1): c.981_982delAT (p.Cys328Terfs)deletionPathogenicrs80357772GRCh37Chr 17, 41246566: 41246567
1108CHEK2CHEK2, 1-BP DEL, 1100CdeletionPathogenic, risk factorChr na, -1: -1
1109CHEK2NM_007194.3(CHEK2): c.1283C> T (p.Ser428Phe)SNVPathogenic, risk factorrs137853011GRCh37Chr 22, 29091207: 29091207
1110NBNNM_002485.4(NBN): c.657_661delACAAA (p.Lys219Asnfs)deletionPathogenic, risk factorrs587776650GRCh37Chr 8, 90983442: 90983446
1111APCNM_000038.5(APC): c.3920T> A (p.Ile1307Lys)SNVPathogenic, risk factorrs1801155GRCh37Chr 5, 112175211: 112175211
1112BRCA1NM_007294.3(BRCA1): c.135-?_441+?deldeletionPathogenicGRCh37Chr 17, 41256139: 41258550
1113BRCA1NM_007294.3(BRCA1): c.4186-?_4675+?deldeletionPathogenicGRCh37Chr 17, 41226348: 41234592
1114BRCA1NM_007294.3(BRCA1): c.4358-?_5277+?deldeletionPathogenicGRCh37Chr 17, 41209069: 41228631
1115BRCA1NM_007294.3(BRCA1): c.4485-?_4986+?deldeletionPathogenicGRCh37Chr 17, 41222945: 41226538
1116BRCA1NM_007294.3(BRCA1): c.4987-?_5074+?deldeletionPathogenicGRCh37Chr 17, 41219625: 41219712
1117BRCA1NM_007294.3(BRCA1): c.548-?_5193+?deldeletionPathogenicGRCh37Chr 17, 41215891: 41249306
1118BRCA1NM_007294.3(BRCA1): c.134+2T> CSNVPathogenicrs80358131GRCh37Chr 17, 41267741: 41267741
1119BRCA1NM_007294.3(BRCA1): c.203_204delTA (p.Ile68Asnfs)deletionPathogenicrs398122651GRCh37Chr 17, 41258481: 41258482
1120BRCA1NM_007294.3(BRCA1): c.2070_2071delAA (p.Arg691Thrfs)deletionPathogenicrs273898676GRCh37Chr 17, 41245477: 41245478
1121BRCA1NM_007294.3(BRCA1): c.2131_2132delAA (p.Lys711Valfs)deletionPathogenicrs398122653GRCh37Chr 17, 41245416: 41245417
1122BRCA1NM_007294.3(BRCA1): c.2199delG (p.Lys734Asnfs)deletionPathogenicrs80357944GRCh37Chr 17, 41245349: 41245349
1123BRCA1NM_007294.3(BRCA1): c.2686dupA (p.Ser896Lysfs)duplicationPathogenicrs398122664GRCh37Chr 17, 41244862: 41244862
1124BRCA1NM_007294.3(BRCA1): c.2902_2903insTC (p.Pro968Leufs)duplicationPathogenicrs398122670GRCh37Chr 17, 41244646: 41244647
1125BRCA1NM_007294.3(BRCA1): c.2940delA (p.Pro981Hisfs)deletionPathogenicrs80357876GRCh37Chr 17, 41244608: 41244608
1126BRCA1NM_007294.3(BRCA1): c.3672delC (p.Cys1225Alafs)deletionPathogenicrs398122677GRCh37Chr 17, 41243876: 41243876
1127BRCA1NM_007294.3(BRCA1): c.3761_3762insTT (p.Lys1254Asnfs)insertionPathogenicrs80357928GRCh37Chr 17, 41243786: 41243787
1128BRCA1NM_007294.3(BRCA1): c.4354A> T (p.Lys1452Ter)SNVPathogenicrs398122685GRCh37Chr 17, 41234424: 41234424
1129BRCA1NM_007294.3(BRCA1): c.4493delC (p.Pro1498Leufs)deletionPathogenicrs398122687GRCh37Chr 17, 41226530: 41226530
1130BRCA1NM_007294.3(BRCA1): c.5193+1G> TSNVPathogenicrs80358004GRCh37Chr 17, 41215349: 41215349
1131BRCA1NM_007294.3(BRCA1): c.5277+1delGdeletionPathogenicrs273901754GRCh37Chr 17, 41209068: 41209068
1132BRCA1NM_007294.3(BRCA1): c.670+1G> TSNVLikely pathogenic, Pathogenicrs398122706GRCh37Chr 17, 41247862: 41247862
1133BRCA1NM_007294.3(BRCA1): c.81-1G> ASNVLikely pathogenic, Pathogenicrs80358018GRCh37Chr 17, 41267797: 41267797
1134BRCA1NM_007294.3(BRCA1): c.936delC (p.Leu313Terfs)deletionPathogenicrs398122709GRCh37Chr 17, 41246612: 41246612
1135BRCA2NM_000059.3(BRCA2): c.2808_2811del4 (p.Ala938Profs)deletionPathogenicrs80359351GRCh37Chr 13, 32911300: 32911303
1136BRCA2NM_000059.3(BRCA2): c.658_659delGT (p.Val220Ilefs)deletionPathogenicrs80359604GRCh37Chr 13, 32903606: 32903607
1137BRCA2NM_000059.3(BRCA2): c.9196C> T (p.Gln3066Ter)SNVPathogenicrs80359180GRCh37Chr 13, 32954222: 32954222
1138BRCA2NM_000059.3(BRCA2): c.7985C> A (p.Thr2662Lys)SNVPathogenicrs431825362GRCh37Chr 13, 32937324: 32937324
1139BRCA1NM_007294.3(BRCA1): c.2001dupA (p.Leu668Thrfs)duplicationPathogenicrs80357521GRCh37Chr 17, 41245547: 41245547
1140BRCA1NM_007294.3(BRCA1): c.4038_4041delAAGA (p.Arg1347Glufs)deletionPathogenicrs431825404GRCh37Chr 17, 41243507: 41243510
1141BRCA1NM_007294.3(BRCA1): c.4986+5G> ASNVLikely pathogenic, Pathogenicrs397509211GRCh37Chr 17, 41222940: 41222940

Expression for genes affiliated with Brca1 Hereditary Breast and Ovarian Cancer Syndrome

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Search GEO for disease gene expression data for Brca1 Hereditary Breast and Ovarian Cancer Syndrome.

Pathways for genes affiliated with Brca1 Hereditary Breast and Ovarian Cancer Syndrome

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Pathways related to Brca1 Hereditary Breast and Ovarian Cancer Syndrome according to GeneCards Suite gene sharing:

(show all 28)
idSuper pathwaysScoreTop Affiliating Genes
19.7BRCA2, CHEK2
29.6BRCA1, NBN
39.3ATM, BRCA1
49.3ATM, BRCA1
5
Show member pathways
9.3ATM, CHEK2
6
Show member pathways
9.3ATM, CHEK2
79.3ATM, CHEK2
8
Show member pathways
8.9ATM, BRCA1, CHEK2
9
Show member pathways
8.9ATM, BRCA1, BRCA2
108.8ATM, BRCA1, NBN
118.8APC, ATM, BRCA1
128.8APC, ATM, CHEK2
13
Show member pathways
8.6BRCA1, BRCA2, BRIP1, PALB2
148.5ATM, BRCA1, BRCA2, CHEK2
158.4ATM, BRCA1, CHEK2, NBN
16
Show member pathways
8.4ATM, BRCA1, CHEK2, NBN
17
Show member pathways
8.4ATM, BRCA1, CHEK2, NBN
18
Show member pathways
8.4ATM, BRCA1, BRCA2, NBN
19
Show member pathways
8.0ATM, BRCA1, BRCA2, CHEK2, NBN
20
Show member pathways
8.0ATM, BRCA1, BRCA2, CHEK2, NBN
218.0APC, ATM, BRCA1, BRCA2, CHEK2
22
Show member pathways
7.8ATM, BRCA1, BRIP1, CHEK2, NBN
237.8ATM, BRCA1, BRIP1, CHEK2, NBN
24
Show member pathways
7.8ATM, BRCA1, BRIP1, CHEK2, NBN
25
Show member pathways
7.4ATM, BRCA1, BRCA2, BRIP1, CHEK2, NBN
26
Show member pathways
7.4ATM, BRCA1, BRCA2, BRIP1, CHEK2, NBN
27
Show member pathways
7.3ATM, BRCA1, BRCA2, BRIP1, NBN, PALB2
28
Show member pathways
6.9ATM, BRCA1, BRCA2, BRIP1, CHEK2, NBN

GO Terms for genes affiliated with Brca1 Hereditary Breast and Ovarian Cancer Syndrome

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Cellular components related to Brca1 Hereditary Breast and Ovarian Cancer Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1chromosome, telomeric regionGO:00007819.6ATM, CHEK2
2nuclear chromosome, telomeric regionGO:00007849.1ATM, BRCA2, NBN
3nucleoplasmGO:00056546.4APC, ATM, BRCA1, BRCA2, BRIP1, CHEK2

Biological processes related to Brca1 Hereditary Breast and Ovarian Cancer Syndrome according to GeneCards Suite gene sharing:

(show all 26)
idNameGO IDScoreTop Affiliating Genes
1chordate embryonic developmentGO:004300910.3BRCA1, BRCA2
2DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:000697810.3BRCA1, BRCA2
3inner cell mass cell proliferationGO:000183310.1BRCA2, PALB2
4response to gamma radiationGO:001033210.1BRCA2, CHEK2
5chromosome breakageGO:00310529.8BRCA1, BRCA2, PALB2
6DNA damage induced protein phosphorylationGO:00069759.8ATM, CHEK2
7DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrestGO:00069779.8ATM, CHEK2
8negative regulation of telomere cappingGO:19043549.8ATM, NBN
9replicative senescenceGO:00903999.8ATM, CHEK2
10mitotic spindle assembly checkpointGO:00070949.7APC, ATM
11DNA duplex unwindingGO:00325089.6BRIP1, NBN
12somitogenesisGO:00017569.3ATM, PALB2
13double-strand break repair via nonhomologous end joiningGO:00063039.2ATM, BRCA1, NBN
14DNA double-strand break processingGO:00007299.1ATM, BRCA1, NBN
15DNA damage checkpointGO:00000779.0BRIP1, CHEK2, NBN
16response to ionizing radiationGO:00102129.0ATM, BRCA1
17intrinsic apoptotic signaling pathway in response to DNA damageGO:00086309.0ATM, BRCA1, BRCA2, CHEK2
18cell cycle arrestGO:00070508.9APC, ATM, NBN
19brain developmentGO:00074208.9ATM, BRCA1, BRCA2
20double-strand break repairGO:00063028.6BRCA1, BRCA2, BRIP1, CHEK2, NBN
21double-strand break repair via homologous recombinationGO:00007248.5ATM, BRCA1, BRCA2, NBN, PALB2
22DNA replicationGO:00062608.4ATM, BRCA1, BRIP1, NBN
23cellular response to DNA damage stimulusGO:00069748.3APC, ATM, BRCA1, BRCA2, CHEK2
24regulation of signal transduction by p53 class mediatorGO:19017968.1ATM, BRCA1, BRIP1, CHEK2, NBN
25DNA synthesis involved in DNA repairGO:00007317.6ATM, BRCA1, BRCA2, BRIP1, NBN, PALB2
26strand displacementGO:00007327.6ATM, BRCA1, BRCA2, BRIP1, NBN, PALB2

Molecular functions related to Brca1 Hereditary Breast and Ovarian Cancer Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ATP-dependent DNA helicase activityGO:00040039.3BRIP1, NBN

Sources for Brca1 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