ClinVar Miner

List of variants reported as likely benign for breast disorder by Department of Pathology and Laboratory Medicine, Sinai Health System

Included ClinVar conditions (69):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 487
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.378T>A (p.Asp126Glu) rs2234997 0.06244
NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu) rs45551636 0.01717
NM_000546.6(TP53):c.993+12T>C rs1800899 0.01614
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser) rs45494092 0.01508
NM_000465.4(BARD1):c.1670G>C (p.Cys557Ser) rs28997576 0.01443
NM_002485.5(NBN):c.37+5G>A rs116735828 0.00767
NM_000465.4(BARD1):c.1972C>T (p.Arg658Cys) rs3738888 0.00736
NM_000051.4(ATM):c.6235G>A (p.Val2079Ile) rs1800060 0.00649
NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg) rs2229020 0.00636
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833 0.00597
NM_000535.7(PMS2):c.1569C>G (p.Ser523=) rs141458772 0.00560
NM_002878.4(RAD51D):c.695G>A (p.Arg232Gln) rs28363283 0.00457
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val) rs1801673 0.00441
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922 0.00431
NM_002878.4(RAD51D):c.873C>T (p.Arg291=) rs140848654 0.00399
NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys) rs115052399 0.00370
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys) rs4988345 0.00363
NM_000051.4(ATM):c.3993+5G>T rs3092842 0.00287
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_000051.4(ATM):c.2362A>C (p.Ser788Arg) rs641252 0.00265
NM_004360.5(CDH1):c.324A>G (p.Arg108=) rs116542018 0.00255
NM_004360.5(CDH1):c.345G>A (p.Thr115=) rs1801023 0.00236
NM_007194.4(CHEK2):c.593-14C>T rs145754558 0.00235
NM_000465.4(BARD1):c.1977A>G (p.Arg659=) rs147215925 0.00230
NM_000465.4(BARD1):c.620A>G (p.Lys207Arg) rs34969857 0.00218
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp) rs4986845 0.00209
NM_000455.5(STK11):c.464+9G>A rs376313955 0.00208
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) rs147241704 0.00207
NM_024675.4(PALB2):c.721A>G (p.Asn241Asp) rs113217267 0.00202
NM_032043.3(BRIP1):c.2937A>G (p.Lys979=) rs75091137 0.00194
NM_024675.4(PALB2):c.1606C>T (p.Leu536=) rs151162255 0.00193
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169 0.00177
NM_032043.3(BRIP1):c.2286T>C (p.Arg762=) rs61754141 0.00173
NM_002878.4(RAD51D):c.481-7G>A rs145832514 0.00171
NM_000059.4(BRCA2):c.1798T>C (p.Tyr600His) rs75419644 0.00170
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059 0.00169
NM_002878.4(RAD51D):c.568G>A (p.Ala190Thr) rs80116829 0.00167
NM_000051.4(ATM):c.7788+8G>T rs112775908 0.00165
NM_007294.4(BRCA1):c.21C>T (p.Arg7=) rs149402012 0.00165
NM_000251.3(MSH2):c.1277-8T>C rs145400590 0.00159
NM_004360.5(CDH1):c.2292C>T (p.Asp764=) rs61747636 0.00159
NM_000314.8(PTEN):c.1104T>C (p.Asp368=) rs35979531 0.00158
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn) rs142155101 0.00153
NM_007294.4(BRCA1):c.4113G>A (p.Gly1371=) rs147448807 0.00150
NM_007294.4(BRCA1):c.4682C>T (p.Thr1561Ile) rs56158747 0.00150
NM_000051.4(ATM):c.2608A>G (p.Asn870Asp) rs61734354 0.00146
NM_004360.5(CDH1):c.2440-6C>G rs139757930 0.00145
NM_000059.4(BRCA2):c.9634G>C (p.Gly3212Arg) rs55775473 0.00141
NM_000051.4(ATM):c.1066-6T>G rs201686625 0.00139
NM_000059.4(BRCA2):c.2138A>T (p.Gln713Leu) rs55816687 0.00138
NM_000059.4(BRCA2):c.6821G>T (p.Gly2274Val) rs55712212 0.00126
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg) rs140781259 0.00126
NM_000051.4(ATM):c.4473C>T (p.Phe1491=) rs4988008 0.00125
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587 0.00124
NM_000455.5(STK11):c.598-8C>T rs373610101 0.00123
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192 0.00121
NM_024675.4(PALB2):c.3495G>A (p.Ser1165=) rs45439097 0.00121
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg) rs28997570 0.00113
NM_000059.4(BRCA2):c.1040A>G (p.Gln347Arg) rs55800493 0.00109
NM_000059.4(BRCA2):c.1911T>C (p.Gly637=) rs11571652 0.00109
NM_000059.4(BRCA2):c.175C>G (p.Pro59Ala) rs56091799 0.00108
NM_007294.4(BRCA1):c.765G>A (p.Glu255=) rs62625299 0.00107
NM_000059.4(BRCA2):c.9235G>A (p.Val3079Ile) rs55933907 0.00106
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp) rs28997569 0.00104
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406 0.00103
NM_000059.4(BRCA2):c.6057C>T (p.Asn2019=) rs147961615 0.00102
NM_000179.3(MSH6):c.984C>T (p.Ser328=) rs138143769 0.00101
NM_024675.4(PALB2):c.909C>T (p.Leu303=) rs145788619 0.00101
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441 0.00091
NM_000059.4(BRCA2):c.5768A>C (p.Asp1923Ala) rs45491005 0.00088
NM_002878.4(RAD51D):c.919G>A (p.Glu307Lys) rs115031549 0.00083
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770 0.00081
NM_000051.4(ATM):c.1073A>G (p.Asn358Ser) rs149636614 0.00079
NM_000051.4(ATM):c.3517T>C (p.Leu1173=) rs141460670 0.00079
NM_000051.4(ATM):c.7928-10T>C rs188404773 0.00079
NM_000051.4(ATM):c.3150T>C (p.Leu1050=) rs3092859 0.00076
NM_032043.3(BRIP1):c.3378A>C (p.Glu1126Asp) rs145855459 0.00076
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu) rs2235006 0.00071
NM_000455.5(STK11):c.597+14del rs536282050 0.00067
NM_007194.4(CHEK2):c.-6G>A rs376995740 0.00065
NM_000249.4(MLH1):c.375A>G (p.Ala125=) rs1800144 0.00062
NM_002691.4(POLD1):c.581C>G (p.Ser194Cys) rs144656348 0.00061
NM_007294.4(BRCA1):c.4992C>T (p.Leu1664=) rs142459158 0.00061
NM_000455.5(STK11):c.945G>A (p.Pro315=) rs376329042 0.00060
NM_007294.4(BRCA1):c.5348T>C (p.Met1783Thr) rs55808233 0.00058
NM_004360.5(CDH1):c.2439+10C>T rs35236080 0.00057
NM_000251.3(MSH2):c.1563T>C (p.Tyr521=) rs63750330 0.00053
NM_002691.4(POLD1):c.1665C>T (p.Val555=) rs150238541 0.00053
NM_000051.4(ATM):c.8592C>T (p.Tyr2864=) rs56025670 0.00051
NM_000059.4(BRCA2):c.9720T>C (p.Val3240=) rs80359810 0.00048
NM_000455.5(STK11):c.1185A>G (p.Thr395=) rs370207155 0.00047
NM_000051.4(ATM):c.1986T>C (p.Phe662=) rs1800055 0.00046
NM_000136.3(FANCC):c.672C>T (p.Asn224=) rs150647141 0.00046
NM_000136.3(FANCC):c.705C>T (p.Pro235=) rs141828876 0.00046
NM_000251.3(MSH2):c.815C>T (p.Ala272Val) rs34136999 0.00046
NM_000059.4(BRCA2):c.7976+12G>A rs81002827 0.00045
NM_004360.5(CDH1):c.1744C>T (p.Leu582=) rs1801025 0.00045
NM_000051.4(ATM):c.3342G>A (p.Lys1114=) rs138393322 0.00044
NM_002485.5(NBN):c.1720T>A (p.Leu574Ile) rs142334798 0.00044
NM_000251.3(MSH2):c.1680T>C (p.Asn560=) rs200056411 0.00043
NM_007294.4(BRCA1):c.-20+11C>T rs273898672 0.00042
NM_000249.4(MLH1):c.702G>A (p.Glu234=) rs35908749 0.00041
NM_000535.7(PMS2):c.1560G>A (p.Ala520=) rs201167814 0.00039
NM_000051.4(ATM):c.6795C>T (p.Phe2265=) rs3218699 0.00038
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg) rs55801750 0.00038
NM_000179.3(MSH6):c.1449G>T (p.Val483=) rs35590297 0.00037
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe) rs56009889 0.00035
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233 0.00034
NM_007194.4(CHEK2):c.1176G>A (p.Ala392=) rs142692907 0.00034
NM_007294.4(BRCA1):c.1036C>T (p.Pro346Ser) rs80357015 0.00032
NM_002485.5(NBN):c.1690G>A (p.Glu564Lys) rs72550742 0.00030
NM_000251.3(MSH2):c.471C>A (p.Gly157=) rs61756463 0.00029
NM_000465.4(BARD1):c.1515G>T (p.Gly505=) rs139721211 0.00029
NM_000465.4(BARD1):c.346C>T (p.His116Tyr) rs144856889 0.00029
NM_002878.4(RAD51D):c.216C>T (p.Tyr72=) rs148690585 0.00028
NM_004360.5(CDH1):c.892G>A (p.Ala298Thr) rs142822590 0.00028
NM_000455.5(STK11):c.*8C>T rs587782259 0.00027
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser) rs104895032 0.00027
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr) rs35963548 0.00026
NM_000059.4(BRCA2):c.2208A>G (p.Ala736=) rs144984153 0.00026
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser) rs200513014 0.00026
NM_004360.5(CDH1):c.2413G>A (p.Asp805Asn) rs200894246 0.00026
NM_007294.4(BRCA1):c.528G>A (p.Thr176=) rs34545365 0.00024
NM_058216.3(RAD51C):c.145+12T>G rs377297129 0.00024
NM_000455.5(STK11):c.1194G>A (p.Ala398=) rs184271025 0.00023
NM_004360.5(CDH1):c.2589C>T (p.Asn863=) rs115817750 0.00022
NM_007294.4(BRCA1):c.4813T>C (p.Leu1605=) rs80356833 0.00022
NM_004360.5(CDH1):c.670C>T (p.Arg224Cys) rs200310662 0.00021
NM_007294.4(BRCA1):c.3804T>C (p.Asn1268=) rs140588714 0.00021
NM_007294.4(BRCA1):c.5411T>A (p.Val1804Asp) rs80356920 0.00021
NM_024675.4(PALB2):c.1492G>T (p.Asp498Tyr) rs75023630 0.00020
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr) rs145119475 0.00019
NM_000051.4(ATM):c.4980C>T (p.Asn1660=) rs144338238 0.00019
NM_000051.4(ATM):c.8734A>G (p.Arg2912Gly) rs376676328 0.00019
NM_000251.3(MSH2):c.138C>G (p.His46Gln) rs33946261 0.00019
NM_002485.5(NBN):c.2220T>C (p.Ala740=) rs147494981 0.00019
NM_004360.5(CDH1):c.1296C>T (p.Asn432=) rs187862045 0.00019
NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser) rs80357087 0.00019
NM_000455.5(STK11):c.618G>A (p.Ala206=) rs370976710 0.00018
NM_002878.4(RAD51D):c.904-3C>T rs45478491 0.00018
NM_000051.4(ATM):c.6108T>C (p.Tyr2036=) rs3092826 0.00017
NM_000535.7(PMS2):c.-7T>C rs199660792 0.00017
NM_007294.4(BRCA1):c.4132G>A (p.Val1378Ile) rs28897690 0.00017
NM_032043.3(BRIP1):c.587A>G (p.Asn196Ser) rs550707862 0.00017
NM_000059.4(BRCA2):c.3417G>A (p.Lys1139=) rs145625991 0.00016
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala) rs41295280 0.00016
NM_000465.4(BARD1):c.1554C>T (p.Ala518=) rs139612775 0.00015
NM_000038.6(APC):c.6609T>C (p.Val2203=) rs149328018 0.00014
NM_000051.4(ATM):c.3077+4G>A rs201222237 0.00014
NM_000465.4(BARD1):c.1203T>C (p.Ser401=) rs370553043 0.00014
NM_002485.5(NBN):c.1809C>A (p.Phe603Leu) rs192236678 0.00014
NM_004360.5(CDH1):c.1353T>C (p.Ile451=) rs114192597 0.00014
NM_000059.4(BRCA2):c.3445A>G (p.Met1149Val) rs80358589 0.00013
NM_000059.4(BRCA2):c.6960G>A (p.Leu2320=) rs373134168 0.00013
NM_000251.3(MSH2):c.2425G>A (p.Glu809Lys) rs202145681 0.00013
NM_000251.3(MSH2):c.505A>G (p.Ile169Val) rs63750716 0.00013
NM_002485.5(NBN):c.1124+6G>T rs375862750 0.00013
NM_007294.4(BRCA1):c.2773A>C (p.Ile925Leu) rs4986847 0.00013
NM_024675.4(PALB2):c.232G>A (p.Val78Ile) rs515726085 0.00013
NM_000179.3(MSH6):c.3203G>A (p.Arg1068Gln) rs398123230 0.00012
NM_000535.7(PMS2):c.1320A>G (p.Pro440=) rs138697590 0.00012
NM_000059.4(BRCA2):c.2680G>A (p.Val894Ile) rs28897715 0.00011
NM_000059.4(BRCA2):c.9501+9A>C rs81002867 0.00011
NM_002485.5(NBN):c.1914+10G>A rs577706448 0.00011
NM_002485.5(NBN):c.37+10G>C rs369408590 0.00011
NM_004360.5(CDH1):c.2643C>T (p.Asp881=) rs114708971 0.00011
NM_007294.4(BRCA1):c.2002C>T (p.Leu668Phe) rs80357250 0.00011
NM_007294.4(BRCA1):c.4934G>C (p.Arg1645Thr) rs70953661 0.00011
NM_007294.4(BRCA1):c.5158A>G (p.Thr1720Ala) rs56195342 0.00011
NM_000059.4(BRCA2):c.2488A>G (p.Asn830Asp) rs574039421 0.00010
NM_000455.5(STK11):c.787T>C (p.Leu263=) rs372378119 0.00010
NM_000465.4(BARD1):c.1568+15G>T rs145936354 0.00010
NM_000465.4(BARD1):c.2002-11C>T rs187240320 0.00010
NM_000051.4(ATM):c.5005+7_5005+8del rs587780626 0.00009
NM_000059.4(BRCA2):c.1568A>G (p.His523Arg) rs80358443 0.00009
NM_000059.4(BRCA2):c.3218A>G (p.Gln1073Arg) rs80358566 0.00009
NM_000059.4(BRCA2):c.6338A>G (p.Asn2113Ser) rs80358874 0.00009
NM_000059.4(BRCA2):c.8215G>A (p.Val2739Ile) rs80359069 0.00009
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817 0.00009
NM_000249.4(MLH1):c.1808C>G (p.Pro603Arg) rs63750876 0.00009
NM_000455.5(STK11):c.863-14C>T rs756001994 0.00009
NM_004360.5(CDH1):c.1888C>G (p.Leu630Val) rs2276331 0.00009
NM_004360.5(CDH1):c.894C>T (p.Ala298=) rs139110184 0.00009
NM_007194.4(CHEK2):c.*7T>C rs121908710 0.00009
NM_007194.4(CHEK2):c.1217G>A (p.Arg406His) rs200649225 0.00009
NM_024675.4(PALB2):c.344G>T (p.Gly115Val) rs145598272 0.00009
NM_000059.4(BRCA2):c.3420T>C (p.Ser1140=) rs118093942 0.00008
NM_000059.4(BRCA2):c.517-4C>G rs81002804 0.00008
NM_000535.7(PMS2):c.1656T>C (p.His552=) rs113726095 0.00008
NM_007294.4(BRCA1):c.4882A>G (p.Met1628Val) rs80357465 0.00008
NM_024675.4(PALB2):c.2509G>A (p.Glu837Lys) rs587778587 0.00008
NM_000051.4(ATM):c.125A>G (p.His42Arg) rs201773026 0.00007
NM_000051.4(ATM):c.496+4T>C rs587781375 0.00007
NM_000059.4(BRCA2):c.1167G>A (p.Pro389=) rs148607710 0.00007
NM_000059.4(BRCA2):c.9949C>T (p.Leu3317=) rs777488349 0.00007
NM_000249.4(MLH1):c.42A>C (p.Thr14=) rs369737664 0.00007
NM_000251.3(MSH2):c.1560A>G (p.Gly520=) rs63750820 0.00007
NM_004360.5(CDH1):c.1298A>G (p.Asp433Gly) rs376097289 0.00007
NM_000051.4(ATM):c.198A>G (p.Lys66=) rs540920248 0.00006
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys) rs28897705 0.00006
NM_000179.3(MSH6):c.1050C>T (p.Ala350=) rs730881802 0.00006
NM_000179.3(MSH6):c.3282A>T (p.Ser1094=) rs372996269 0.00006
NM_000251.3(MSH2):c.2271C>T (p.Tyr757=) rs56076152 0.00006
NM_000251.3(MSH2):c.2400A>G (p.Leu800=) rs201298777 0.00006
NM_000251.3(MSH2):c.944G>T (p.Gly315Val) rs202026056 0.00006
NM_000465.4(BARD1):c.722C>G (p.Ser241Cys) rs3738885 0.00006
NM_000535.7(PMS2):c.1510G>C (p.Glu504Gln) rs368516768 0.00006
NM_000535.7(PMS2):c.477G>A (p.Val159=) rs147701251 0.00006
NM_002485.5(NBN):c.819A>T (p.Thr273=) rs147660518 0.00006
NM_002485.5(NBN):c.930T>A (p.Ile310=) rs142813526 0.00006
NM_002878.4(RAD51D):c.957G>A (p.Gln319=) rs147669627 0.00006
NM_004360.5(CDH1):c.48+15_48+16del rs730881655 0.00006
NM_007194.4(CHEK2):c.1023C>T (p.Asn341=) rs377668478 0.00006
NM_007294.4(BRCA1):c.1392C>T (p.Thr464=) rs533802049 0.00006
NM_007294.4(BRCA1):c.2522G>A (p.Arg841Gln) rs80357337 0.00006
NM_007294.4(BRCA1):c.5278-14C>G rs80358105 0.00006
NM_007294.4(BRCA1):c.946A>G (p.Ser316Gly) rs55874646 0.00006
NM_024675.4(PALB2):c.768C>T (p.Ser256=) rs45487491 0.00006
NM_058216.3(RAD51C):c.870T>A (p.Ile290=) rs376402418 0.00006
NM_000051.4(ATM):c.2220A>G (p.Ala740=) rs56353517 0.00005
NM_000059.4(BRCA2):c.5985C>T (p.Asn1995=) rs374620036 0.00005
NM_000059.4(BRCA2):c.8525G>A (p.Arg2842His) rs80359105 0.00005
NM_000136.3(FANCC):c.1425A>G (p.Thr475=) rs199739450 0.00005
NM_000455.5(STK11):c.666C>T (p.Pro222=) rs542189325 0.00005
NM_007294.4(BRCA1):c.4653T>C (p.Ser1551=) rs587780863 0.00005
NM_007294.4(BRCA1):c.5117G>C (p.Gly1706Ala) rs80356860 0.00005
NM_007294.4(BRCA1):c.670+16G>A rs199916228 0.00005
NM_024675.4(PALB2):c.2442G>A (p.Glu814=) rs140776736 0.00005
NM_000038.6(APC):c.6387G>A (p.Ser2129=) rs374310157 0.00004
NM_000051.4(ATM):c.6114C>T (p.His2038=) rs774993357 0.00004
NM_000059.4(BRCA2):c.1762A>G (p.Asn588Asp) rs398122731 0.00004
NM_000059.4(BRCA2):c.5319G>A (p.Glu1773=) rs376257217 0.00004
NM_000059.4(BRCA2):c.7102T>G (p.Leu2368Val) rs397507382 0.00004
NM_000059.4(BRCA2):c.8723T>G (p.Val2908Gly) rs28897753 0.00004
NM_000455.5(STK11):c.374+11C>T rs368923696 0.00004
NM_000465.4(BARD1):c.2280G>A (p.Ser760=) rs749959440 0.00004
NM_000465.4(BARD1):c.253G>T (p.Val85Leu) rs370359540 0.00004
NM_000465.4(BARD1):c.365-7C>T rs745929983 0.00004
NM_000535.7(PMS2):c.1197G>A (p.Lys399=) rs757730609 0.00004
NM_000535.7(PMS2):c.2049C>T (p.Asn683=) rs752950007 0.00004
NM_000535.7(PMS2):c.2334C>T (p.Phe778=) rs768674294 0.00004
NM_000535.7(PMS2):c.831G>A (p.Thr277=) rs116481522 0.00004
NM_000546.6(TP53):c.1096T>G (p.Ser366Ala) rs17881470 0.00004
NM_004360.5(CDH1):c.213C>T (p.Leu71=) rs376667778 0.00004
NM_004360.5(CDH1):c.780C>T (p.Pro260=) rs765090311 0.00004
NM_007294.4(BRCA1):c.2979A>G (p.Lys993=) rs772854836 0.00004
NM_007294.4(BRCA1):c.425C>A (p.Pro142His) rs55971303 0.00004
NM_007294.4(BRCA1):c.5252G>A (p.Arg1751Gln) rs80357442 0.00004
NM_007294.4(BRCA1):c.570C>T (p.Thr190=) rs201536070 0.00004
NM_007294.4(BRCA1):c.81-11del rs273902788 0.00004
NM_032043.3(BRIP1):c.69G>A (p.Pro23=) rs45458996 0.00004
NM_058216.3(RAD51C):c.1062A>G (p.Ala354=) rs201000407 0.00004
NM_000051.4(ATM):c.3300G>A (p.Thr1100=) rs587780621 0.00003
NM_000051.4(ATM):c.6888A>T (p.Ala2296=) rs200735689 0.00003
NM_000051.4(ATM):c.7191A>G (p.Gln2397=) rs768906734 0.00003
NM_000051.4(ATM):c.9006C>T (p.Phe3002=) rs540172506 0.00003
NM_000059.4(BRCA2):c.1917G>A (p.Leu639=) rs779226644 0.00003
NM_000059.4(BRCA2):c.3462C>T (p.Thr1154=) rs4986856 0.00003
NM_000251.3(MSH2):c.2120G>A (p.Cys707Tyr) rs373226409 0.00003
NM_000251.3(MSH2):c.399C>T (p.Asp133=) rs61756462 0.00003
NM_000455.5(STK11):c.1035C>T (p.His345=) rs751619208 0.00003
NM_000546.6(TP53):c.459C>T (p.Pro153=) rs72661116 0.00003
NM_000546.6(TP53):c.903A>G (p.Pro301=) rs72661120 0.00003
NM_002485.5(NBN):c.896+13T>G rs376695206 0.00003
NM_005359.6(SMAD4):c.1215C>T (p.His405=) rs751732234 0.00003
NM_007294.4(BRCA1):c.3063T>C (p.Ser1021=) rs1364539273 0.00003
NM_007294.4(BRCA1):c.396C>A (p.Asn132Lys) rs80357413 0.00003
NM_007294.4(BRCA1):c.811G>A (p.Val271Met) rs80357244 0.00003
NM_032043.3(BRIP1):c.2748C>T (p.Tyr916=) rs555200296 0.00003
NM_032043.3(BRIP1):c.702G>A (p.Lys234=) rs45512798 0.00003
NM_000051.4(ATM):c.8151+11C>T rs555381912 0.00002
NM_000059.4(BRCA2):c.10154G>A (p.Arg3385His) rs80358398 0.00002
NM_000059.4(BRCA2):c.2256C>T (p.Asp752=) rs766384913 0.00002
NM_000059.4(BRCA2):c.2944A>C (p.Ile982Leu) rs28897717 0.00002
NM_000059.4(BRCA2):c.5896C>T (p.His1966Tyr) rs80358822 0.00002
NM_000059.4(BRCA2):c.7413A>G (p.Thr2471=) rs138067005 0.00002
NM_000059.4(BRCA2):c.7534C>T (p.Leu2512Phe) rs80358980 0.00002
NM_000059.4(BRCA2):c.8505A>G (p.Ser2835=) rs765655952 0.00002
NM_000059.4(BRCA2):c.8687G>A (p.Arg2896His) rs80359128 0.00002
NM_000059.4(BRCA2):c.9085G>A (p.Ala3029Thr) rs56179254 0.00002
NM_000059.4(BRCA2):c.9234C>T (p.Val3078=) rs587782428 0.00002
NM_000136.3(FANCC):c.457-7T>C rs749994612 0.00002
NM_000251.3(MSH2):c.1131A>G (p.Gln377=) rs181852377 0.00002
NM_000535.7(PMS2):c.706-13T>C rs730881918 0.00002
NM_000546.6(TP53):c.18A>C (p.Ser6=) rs573130482 0.00002
NM_002878.4(RAD51D):c.171G>A (p.Leu57=) rs786202885 0.00002
NM_004360.5(CDH1):c.378G>A (p.Pro126=) rs786201504 0.00002
NM_007294.4(BRCA1):c.19C>T (p.Arg7Cys) rs80356994 0.00002
NM_007294.4(BRCA1):c.3130A>G (p.Ile1044Val) rs80357271 0.00002
NM_007294.4(BRCA1):c.3835G>A (p.Ala1279Thr) rs80357036 0.00002
NM_007294.4(BRCA1):c.4097-11T>C rs80358072 0.00002
NM_007294.4(BRCA1):c.4245A>G (p.Glu1415=) rs41293453 0.00002
NM_007294.4(BRCA1):c.5175A>G (p.Glu1725=) rs191373374 0.00002
NM_007294.4(BRCA1):c.522A>G (p.Gln174=) rs765432756 0.00002
NM_007294.4(BRCA1):c.5274A>G (p.Arg1758=) rs758739620 0.00002
NM_000038.6(APC):c.7377T>C (p.Ser2459=) rs775573115 0.00001
NM_000038.6(APC):c.993G>A (p.Ser331=) rs148343173 0.00001
NM_000051.4(ATM):c.1303T>C (p.Leu435=) rs748469311 0.00001
NM_000051.4(ATM):c.1899-10T>G rs763685190 0.00001
NM_000051.4(ATM):c.372C>A (p.Ile124=) rs773495195 0.00001
NM_000051.4(ATM):c.5693G>A (p.Arg1898Gln) rs370680798 0.00001
NM_000051.4(ATM):c.6006+13G>C rs368207631 0.00001
NM_000051.4(ATM):c.811C>A (p.Leu271Ile) rs730881339 0.00001
NM_000051.4(ATM):c.8265T>C (p.Tyr2755=) rs758654836 0.00001
NM_000051.4(ATM):c.8730C>G (p.Leu2910=) rs551041839 0.00001
NM_000059.4(BRCA2):c.1818G>A (p.Pro606=) rs76844014 0.00001
NM_000059.4(BRCA2):c.2127G>C (p.Leu709=) rs554040246 0.00001
NM_000059.4(BRCA2):c.2330A>G (p.Asp777Gly) rs780489283 0.00001
NM_000059.4(BRCA2):c.2416G>C (p.Asp806His) rs56404215 0.00001
NM_000059.4(BRCA2):c.2817C>T (p.Thr939=) rs367921107 0.00001
NM_000059.4(BRCA2):c.3309A>G (p.Leu1103=) rs786203980 0.00001
NM_000059.4(BRCA2):c.5652T>C (p.Ile1884=) rs766067138 0.00001
NM_000059.4(BRCA2):c.6131G>T (p.Gly2044Val) rs56191579 0.00001
NM_000059.4(BRCA2):c.6582T>C (p.Ile2194=) rs1178835711 0.00001
NM_000059.4(BRCA2):c.6868T>C (p.Leu2290=) rs876660341 0.00001
NM_000059.4(BRCA2):c.7307A>T (p.Asn2436Ile) rs80358955 0.00001
NM_000059.4(BRCA2):c.8061T>C (p.Val2687=) rs776992904 0.00001
NM_000059.4(BRCA2):c.8124T>G (p.Thr2708=) rs587780662 0.00001
NM_000059.4(BRCA2):c.8997G>A (p.Leu2999=) rs80359804 0.00001
NM_000059.4(BRCA2):c.909T>G (p.Ser303=) rs757430441 0.00001
NM_000059.4(BRCA2):c.9501+16A>C rs1555289626 0.00001
NM_000059.4(BRCA2):c.9509A>G (p.Asp3170Gly) rs80359224 0.00001
NM_000136.3(FANCC):c.510C>T (p.Asn170=) rs777734585 0.00001
NM_000179.3(MSH6):c.3625C>T (p.Leu1209=) rs753675331 0.00001
NM_000179.3(MSH6):c.3879T>C (p.Ala1293=) rs752369374 0.00001
NM_000179.3(MSH6):c.417A>G (p.Thr139=) rs758390144 0.00001
NM_000249.4(MLH1):c.545+10A>C rs781569222 0.00001
NM_000251.3(MSH2):c.1759+9A>C rs994093288 0.00001
NM_000251.3(MSH2):c.1760-12A>G rs774350590 0.00001
NM_000251.3(MSH2):c.646-13T>C rs761205332 0.00001
NM_000314.8(PTEN):c.75G>A (p.Leu25=) rs786201506 0.00001
NM_000455.5(STK11):c.1101G>A (p.Thr367=) rs750954647 0.00001
NM_000455.5(STK11):c.621C>T (p.Asp207=) rs569380138 0.00001
NM_000455.5(STK11):c.765C>T (p.Phe255=) rs769912677 0.00001
NM_000455.5(STK11):c.882G>A (p.Pro294=) rs587781178 0.00001
NM_000455.5(STK11):c.921-8G>A rs863224362 0.00001
NM_000465.4(BARD1):c.1497C>T (p.His499=) rs760665188 0.00001
NM_000535.7(PMS2):c.2148C>T (p.Thr716=) rs748404138 0.00001
NM_000535.7(PMS2):c.480G>A (p.Gln160=) rs1426242773 0.00001
NM_000546.6(TP53):c.891C>T (p.His297=) rs750578863 0.00001
NM_002485.5(NBN):c.306T>C (p.Phe102=) rs1554568276 0.00001
NM_002878.4(RAD51D):c.27C>T (p.Cys9=) rs200487648 0.00001
NM_002878.4(RAD51D):c.739-10T>C rs199998187 0.00001
NM_004329.3(BMPR1A):c.430+12G>A rs201530603 0.00001
NM_004360.5(CDH1):c.114G>C (p.Thr38=) rs786201492 0.00001
NM_004360.5(CDH1):c.1266A>G (p.Gln422=) rs776805501 0.00001
NM_007194.4(CHEK2):c.1590C>T (p.Ala530=) rs786201796 0.00001
NM_007194.4(CHEK2):c.1593G>A (p.Glu531=) rs758555487 0.00001
NM_007194.4(CHEK2):c.714C>T (p.Phe238=) rs864622322 0.00001
NM_007294.4(BRCA1):c.1105G>A (p.Asp369Asn) rs56056711 0.00001
NM_007294.4(BRCA1):c.2207A>C (p.Glu736Ala) rs397507196 0.00001
NM_007294.4(BRCA1):c.2295G>A (p.Glu765=) rs201875054 0.00001
NM_007294.4(BRCA1):c.2584A>G (p.Lys862Glu) rs80356927 0.00001
NM_007294.4(BRCA1):c.301+12A>C rs863224757 0.00001
NM_007294.4(BRCA1):c.4848T>C (p.Ala1616=) rs1480250917 0.00001
NM_007294.4(BRCA1):c.4910C>T (p.Pro1637Leu) rs80357048 0.00001
NM_007294.4(BRCA1):c.5100A>G (p.Thr1700=) rs45519437 0.00001
NM_007294.4(BRCA1):c.5153-13A>G rs45471406 0.00001
NM_007294.4(BRCA1):c.5333A>G (p.Asp1778Gly) rs80357041 0.00001
NM_007294.4(BRCA1):c.825C>T (p.Gly275=) rs397509328 0.00001
NM_024675.4(PALB2):c.21G>A (p.Lys7=) rs1424944402 0.00001
NM_024675.4(PALB2):c.2505C>T (p.Ser835=) rs756502783 0.00001
NM_024675.4(PALB2):c.3024C>T (p.Pro1008=) rs180177130 0.00001
NM_024675.4(PALB2):c.828C>T (p.His276=) rs911713488 0.00001
NM_000051.4(ATM):c.1380G>C (p.Thr460=) rs145333518
NM_000051.4(ATM):c.2805G>C (p.Thr935=) rs55934812
NM_000051.4(ATM):c.291C>T (p.Ile97=) rs746762110
NM_000051.4(ATM):c.3077+15T>C rs1555085277
NM_000051.4(ATM):c.3154-4G>A rs199543313
NM_000051.4(ATM):c.3919G>A (p.Gly1307Arg) rs568451087
NM_000051.4(ATM):c.4239T>C (p.Asp1413=) rs1565455938
NM_000051.4(ATM):c.5675-4T>A rs56075338
NM_000051.4(ATM):c.6975+13dup rs763287238
NM_000051.4(ATM):c.7567T>C (p.Leu2523=) rs1565532289
NM_000051.4(ATM):c.87A>G (p.Lys29=) rs1591446799
NM_000051.4(ATM):c.8893T>C (p.Leu2965=) rs1060504287
NM_000059.4(BRCA2):c.10095C>T (p.Val3365=) rs1060504607
NM_000059.4(BRCA2):c.1478C>T (p.Pro493Leu) rs786202916
NM_000059.4(BRCA2):c.1627C>A (p.His543Asn) rs80358446
NM_000059.4(BRCA2):c.1909+9_1909+10del rs527732001
NM_000059.4(BRCA2):c.2211A>G (p.Ala737=) rs587780647
NM_000059.4(BRCA2):c.240A>T (p.Ile80=) rs80358505
NM_000059.4(BRCA2):c.2562C>T (p.Asn854=) rs1555282746
NM_000059.4(BRCA2):c.2598A>G (p.Glu866=) rs587780549
NM_000059.4(BRCA2):c.2604T>C (p.Thr868=) rs1428997179
NM_000059.4(BRCA2):c.3003A>T (p.Ser1001=) rs786203591
NM_000059.4(BRCA2):c.3249T>C (p.Asn1083=) rs876659029
NM_000059.4(BRCA2):c.3409T>C (p.Leu1137=) rs1054724641
NM_000059.4(BRCA2):c.3630T>C (p.Asp1210=) rs786202991
NM_000059.4(BRCA2):c.3949A>T (p.Thr1317Ser) rs398122773
NM_000059.4(BRCA2):c.4269T>G (p.Thr1423=) rs786201377
NM_000059.4(BRCA2):c.4278A>G (p.Thr1426=) rs1555283682
NM_000059.4(BRCA2):c.4794C>G (p.Leu1598=) rs1294850148
NM_000059.4(BRCA2):c.4860A>G (p.Leu1620=) rs976841328
NM_000059.4(BRCA2):c.4928T>C (p.Val1643Ala) rs28897731
NM_000059.4(BRCA2):c.5171T>C (p.Ile1724Thr) rs80358743
NM_000059.4(BRCA2):c.5634C>T (p.Asn1878=) rs80358784
NM_000059.4(BRCA2):c.5748T>G (p.His1916Gln) rs1555284387
NM_000059.4(BRCA2):c.5922T>C (p.Thr1974=) rs786201515
NM_000059.4(BRCA2):c.6131G>C (p.Gly2044Ala) rs56191579
NM_000059.4(BRCA2):c.6304G>A (p.Val2102Ile) rs80358869
NM_000059.4(BRCA2):c.6465C>T (p.Leu2155=) rs746099644
NM_000059.4(BRCA2):c.6495G>A (p.Leu2165=) rs1555284722
NM_000059.4(BRCA2):c.6761T>A (p.Phe2254Tyr) rs786202915
NM_000059.4(BRCA2):c.682-12_682-11del rs276174879
NM_000059.4(BRCA2):c.7308C>T (p.Asn2436=) rs2137557865
NM_000059.4(BRCA2):c.7641A>G (p.Lys2547=) rs1555286393
NM_000059.4(BRCA2):c.7806-15C>T rs1555286802
NM_000059.4(BRCA2):c.793+12G>A rs1555281482
NM_000059.4(BRCA2):c.8633-14T>C rs769984654
NM_000059.4(BRCA2):c.8954-5_8954-2del rs587782878
NM_000059.4(BRCA2):c.898G>A (p.Val300Ile) rs878853616
NM_000059.4(BRCA2):c.9099T>C (p.Thr3033=) rs876658635
NM_000059.4(BRCA2):c.9116C>T (p.Pro3039Leu) rs80359167
NM_000059.4(BRCA2):c.9162C>G (p.Pro3054=) rs778426874
NM_000059.4(BRCA2):c.9364G>A (p.Ala3122Thr) rs587782313
NM_000059.4(BRCA2):c.956A>C (p.Asn319Thr) rs55939572
NM_000059.4(BRCA2):c.9606G>C (p.Pro3202=) rs755890067
NM_000136.3(FANCC):c.1485G>A (p.Leu495=) rs56082100
NM_000179.3(MSH6):c.1233G>A (p.Arg411=) rs554843104
NM_000179.3(MSH6):c.24C>T (p.Tyr8=) rs746306598
NM_000179.3(MSH6):c.3162C>T (p.Ile1054=) rs149605979
NM_000179.3(MSH6):c.3647-6T>C rs182871847
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000179.3(MSH6):c.4001+2TAAC[4] rs267608132
NM_000179.3(MSH6):c.597C>T (p.Pro199=) rs1553411498
NM_000179.3(MSH6):c.628-13C>G rs538280815
NM_000179.3(MSH6):c.957G>A (p.Thr319=) rs375210430
NM_000249.4(MLH1):c.2091C>T (p.Leu697=) rs536488280
NM_000249.4(MLH1):c.2247A>G (p.Leu749=) rs786202209
NM_000249.4(MLH1):c.864A>C (p.Thr288=) rs1457205659
NM_000249.4(MLH1):c.927C>T (p.Pro309=) rs63749896
NM_000251.3(MSH2):c.2210+11_2210+22del rs730881782
NM_000251.3(MSH2):c.67T>C (p.Phe23Leu) rs372619120
NM_000314.8(PTEN):c.966A>G (p.Lys322=) rs786201392
NM_000455.5(STK11):c.1284G>C (p.Ser428=) rs369097329
NM_000455.5(STK11):c.465-4G>A rs587780009
NM_000455.5(STK11):c.735-10C>T rs553975112
NM_000455.5(STK11):c.96C>G (p.Thr32=) rs79175212
NM_000465.4(BARD1):c.130C>T (p.Leu44=) rs876658807
NM_000465.4(BARD1):c.1635A>G (p.Leu545=) rs786203364
NM_000535.7(PMS2):c.2160G>A (p.Gly720=) rs546441038
NM_000535.7(PMS2):c.21G>C (p.Ser7=) rs587780726
NM_000535.7(PMS2):c.396A>G (p.Gly132=) rs786201073
NM_000546.6(TP53):c.782+14T>G rs1437756379
NM_002485.5(NBN):c.1124+11_1124+13del rs747584990
NM_002485.5(NBN):c.2082T>C (p.Pro694=) rs7823648
NM_002485.5(NBN):c.481-11C>T rs2129890419
NM_004360.5(CDH1):c.1170C>T (p.Asn390=) rs766505270
NM_004360.5(CDH1):c.1437T>C (p.Asp479=) rs2152134915
NM_004360.5(CDH1):c.1665C>T (p.His555=) rs559270110
NM_004360.5(CDH1):c.1712-8T>C rs1060504172
NM_004360.5(CDH1):c.2352T>C (p.Arg784=) rs768796172
NM_004360.5(CDH1):c.832+9A>G rs1057521268
NM_005359.6(SMAD4):c.1139+12A>G rs2144448157
NM_007194.4(CHEK2):c.258G>A (p.Glu86=) rs1201436179
NM_007294.4(BRCA1):c.1222A>G (p.Lys408Glu) rs80357253
NM_007294.4(BRCA1):c.1441C>G (p.Leu481Val) rs1397842308
NM_007294.4(BRCA1):c.1863T>C (p.His621=) rs786201460
NM_007294.4(BRCA1):c.2083G>T (p.Asp695Tyr) rs28897681
NM_007294.4(BRCA1):c.2433C>T (p.Pro811=) rs1555589666
NM_007294.4(BRCA1):c.2649A>C (p.Ala883=) rs2154366693
NM_007294.4(BRCA1):c.3113A>C (p.Glu1038Ala) rs16941
NM_007294.4(BRCA1):c.3179A>C (p.Glu1060Ala) rs80357184
NM_007294.4(BRCA1):c.4185+14G>C rs762153716
NM_007294.4(BRCA1):c.4773C>T (p.Gly1591=) rs2153860804
NM_007294.4(BRCA1):c.477T>C (p.Leu159=) rs779704727
NM_007294.4(BRCA1):c.4837A>T (p.Ser1613Cys) rs1799966
NM_007294.4(BRCA1):c.5103G>A (p.Leu1701=) rs1060504591
NM_007294.4(BRCA1):c.5194-4T>C rs1057524456
NM_007294.4(BRCA1):c.5251C>A (p.Arg1751=) rs80357123
NM_007294.4(BRCA1):c.5306A>G (p.Tyr1769Cys) rs397509257
NM_007294.4(BRCA1):c.547+14del rs273902771
NM_007294.4(BRCA1):c.5538G>A (p.Gln1846=) rs80356849
NM_007294.4(BRCA1):c.594-16dup rs1555593635
NM_007294.4(BRCA1):c.671-12del rs273902781
NM_007294.4(BRCA1):c.81-13C>G rs56328013
NM_007294.4(BRCA1):c.888A>G (p.Arg296=) rs1555592914
NM_024675.4(PALB2):c.1095G>A (p.Arg365=) rs515726062
NM_024675.4(PALB2):c.1242A>C (p.Arg414=) rs875989795
NM_024675.4(PALB2):c.1278G>A (p.Glu426=) rs1555461362
NM_024675.4(PALB2):c.2996+9del rs769414858
NM_024675.4(PALB2):c.426G>A (p.Lys142=) rs1967047677
NM_032043.3(BRIP1):c.*15C>G rs1057523100
NM_032043.3(BRIP1):c.1170C>T (p.Val390=) rs754755989
NM_032043.3(BRIP1):c.1566A>G (p.Ser522=) rs985465808
NM_032043.3(BRIP1):c.2158G>A (p.Val720Met) rs1555591459

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.