ClinVar Miner

Variants with conflicting interpretations studied for Hereditary breast ovarian cancer syndrome

Coded as:
Minimum review status of the submission for Hereditary breast ovarian cancer syndrome: Collection method of the submission for Hereditary breast ovarian cancer syndrome:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
20832 1616 0 399 166 5 42 587

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Hereditary breast ovarian cancer syndrome pathogenic likely pathogenic uncertain significance likely benign benign likely pathogenic, low penetrance pathogenic, low penetrance
pathogenic 0 235 9 0 0 4 1
likely pathogenic 235 0 35 1 1 3 1
uncertain significance 9 35 0 129 55 1 0
likely benign 0 1 129 0 164 0 0
benign 0 1 55 164 0 0 0
likely pathogenic, low penetrance 4 3 1 0 0 0 1
pathogenic, low penetrance 1 1 0 0 0 1 0

Condition to condition summary #

Total conditions: 1
Download table as spreadsheet
Condition Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
Hereditary breast ovarian cancer syndrome 20833 1615 0 399 166 5 42 587

All variants with conflicting interpretations #

Total variants: 587
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117 0.01834
NM_007294.4(BRCA1):c.*36C>G rs3092995 0.01385
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852 0.01109
NM_000059.4(BRCA2):c.8487+19A>G rs11571743 0.01055
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945 0.01054
NM_007294.4(BRCA1):c.212+23T>A rs8176128 0.01018
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg) rs4986860 0.00984
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113 0.00964
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526 0.00793
NM_000059.4(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331 0.00792
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831 0.00792
NM_000059.4(BRCA2):c.1788T>C (p.Asp596=) rs11571642 0.00768
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833 0.00597
NM_000059.4(BRCA2):c.7008-62A>G rs76584943 0.00439
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922 0.00431
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_000059.4(BRCA2):c.9648+54G>A rs11571823 0.00369
NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe) rs11571659 0.00346
NM_000059.4(BRCA2):c.1275A>G (p.Glu425=) rs34355306 0.00335
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485 0.00307
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530 0.00301
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724 0.00295
NM_000059.4(BRCA2):c.4681C>A (p.His1561Asn) rs2219594 0.00292
NM_000059.4(BRCA2):c.7805+6C>G rs81002819 0.00290
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657 0.00288
NM_000059.4(BRCA2):c.68-7T>A rs81002830 0.00277
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954 0.00268
NM_000059.4(BRCA2):c.6220C>A (p.His2074Asn) rs34309943 0.00264
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744 0.00240
NM_000059.4(BRCA2):c.7626G>A (p.Thr2542=) rs61754138 0.00228
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp) rs4986845 0.00209
NM_000059.4(BRCA2):c.2926T>A (p.Ser976Thr) rs144862123 0.00208
NM_000059.4(BRCA2):c.2927C>T (p.Ser976Phe) rs11571656 0.00208
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) rs147241704 0.00207
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008 0.00203
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746 0.00202
NM_000059.4(BRCA2):c.231T>G (p.Thr77=) rs114446594 0.00191
NM_007294.4(BRCA1):c.5277+48_5277+59dup rs572766355 0.00187
NM_007294.4(BRCA1):c.2814A>G (p.Pro938=) rs80356851 0.00183
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710 0.00182
NM_000059.4(BRCA2):c.1798T>C (p.Tyr600His) rs75419644 0.00170
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg) rs55969723 0.00168
NM_007294.4(BRCA1):c.21C>T (p.Arg7=) rs149402012 0.00165
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046 0.00158
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747 0.00158
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_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600 0.00146
NM_007294.4(BRCA1):c.4600G>A (p.Val1534Met) rs55815649 0.00145
NM_000059.4(BRCA2):c.9634G>C (p.Gly3212Arg) rs55775473 0.00141
NM_000059.4(BRCA2):c.2138A>T (p.Gln713Leu) rs55816687 0.00138
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=) rs28897762 0.00132
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) rs1800371 0.00123
NM_007294.4(BRCA1):c.591C>T (p.Cys197=) rs1799965 0.00117
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_000059.4(BRCA2):c.9235G>A (p.Val3079Ile) rs55933907 0.00106
NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His) rs80357459 0.00106
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624 0.00100
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=) rs11571655 0.00097
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711 0.00096
NM_000059.4(BRCA2):c.5768A>C (p.Asp1923Ala) rs45491005 0.00088
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475 0.00074
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708 0.00074
NM_000059.4(BRCA2):c.-15A>C rs138705202 0.00066
NM_007294.4(BRCA1):c.81-12C>G rs80358055 0.00066
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704 0.00065
NM_007294.4(BRCA1):c.4840C>T (p.Pro1614Ser) rs70953660 0.00065
NM_007294.4(BRCA1):c.4992C>T (p.Leu1664=) rs142459158 0.00061
NM_000059.4(BRCA2):c.10121C>T (p.Thr3374Ile) rs56309455 0.00059
NM_007294.4(BRCA1):c.5348T>C (p.Met1783Thr) rs55808233 0.00058
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712 0.00054
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716 0.00054
NM_007294.4(BRCA1):c.301+8T>C rs80358101 0.00054
NM_000059.4(BRCA2):c.7435+6G>A rs81002852 0.00053
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927 0.00051
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744 0.00048
NM_000059.4(BRCA2):c.9720T>C (p.Val3240=) rs80359810 0.00048
NM_000059.4(BRCA2):c.7976+12G>A rs81002827 0.00045
NM_000059.4(BRCA2):c.322A>C (p.Asn108His) rs80358567 0.00034
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931 0.00034
NM_000059.4(BRCA2):c.10095_10096insT (p.Ser3366Ter) rs730881599 0.00033
NM_000059.4(BRCA2):c.223G>C (p.Ala75Pro) rs28897701 0.00032
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687 0.00031
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641 0.00029
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033 0.00029
NM_007294.4(BRCA1):c.3713C>T (p.Pro1238Leu) rs28897688 0.00027
NM_000059.4(BRCA2):c.1395A>C (p.Val465=) rs11571641 0.00026
NM_000059.4(BRCA2):c.6853A>G (p.Ile2285Val) rs56272235 0.00026
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675 0.00026
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701 0.00025
NM_000059.4(BRCA2):c.317-22C>T rs81002794 0.00024
NM_007294.4(BRCA1):c.528G>A (p.Thr176=) rs34545365 0.00024
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561 0.00023
NM_000059.4(BRCA2):c.467A>G (p.Asp156Gly) rs68071147 0.00022
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755 0.00022
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755 0.00021
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683 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_000059.4(BRCA2):c.2589T>A (p.Asn863Lys) rs80358521 0.00020
NM_000059.4(BRCA2):c.6803G>A (p.Arg2268Lys) rs80358906 0.00020
NM_000059.4(BRCA2):c.1123C>T (p.Pro375Ser) rs80358408 0.00019
NM_000059.4(BRCA2):c.5612G>A (p.Ser1871Asn) rs80358782 0.00019
NM_000059.4(BRCA2):c.7805+13A>G rs149769332 0.00019
NM_000059.4(BRCA2):c.9770A>G (p.Lys3257Arg) rs55847618 0.00019
NM_007294.4(BRCA1):c.1789G>A (p.Glu597Lys) rs55650082 0.00019
NM_000059.4(BRCA2):c.7712A>G (p.Glu2571Gly) rs55689095 0.00018
NM_000059.4(BRCA2):c.3417G>A (p.Lys1139=) rs145625991 0.00016
NM_007294.4(BRCA1):c.4410A>T (p.Glu1470Asp) rs80357075 0.00016
NM_000059.4(BRCA2):c.6560C>T (p.Pro2187Leu) rs56019712 0.00015
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342 0.00015
NM_000059.4(BRCA2):c.4061C>T (p.Thr1354Met) rs80358656 0.00014
NM_000059.4(BRCA2):c.3445A>G (p.Met1149Val) rs80358589 0.00013
NM_007294.4(BRCA1):c.3691T>C (p.Phe1231Leu) rs41293451 0.00013
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467 0.00012
NM_007294.4(BRCA1):c.1065G>A (p.Lys355=) rs41286292 0.00011
NM_007294.4(BRCA1):c.2002C>T (p.Leu668Phe) rs80357250 0.00011
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300 0.00011
NM_007294.4(BRCA1):c.3823A>G (p.Ile1275Val) rs80357280 0.00011
NM_007294.4(BRCA1):c.693G>A (p.Thr231=) rs62625298 0.00011
NM_000059.4(BRCA2):c.5414A>G (p.Asn1805Ser) rs80358765 0.00010
NM_000059.4(BRCA2):c.3262C>T (p.Pro1088Ser) rs80358572 0.00009
NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=) rs45520945 0.00009
NM_000059.4(BRCA2):c.4977C>T (p.Ser1659=) rs45484897 0.00009
NM_000059.4(BRCA2):c.6338A>G (p.Asn2113Ser) rs80358874 0.00009
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817 0.00009
NM_058216.3(RAD51C):c.506T>C (p.Val169Ala) rs587780256 0.00009
NM_000059.4(BRCA2):c.517-4C>G rs81002804 0.00008
NM_000059.4(BRCA2):c.9501+3A>T rs61757642 0.00008
NM_007194.4(CHEK2):c.1597A>G (p.Thr533Ala) rs562517792 0.00008
NM_000059.4(BRCA2):c.3568C>T (p.Arg1190Trp) rs80358604 0.00007
NM_007294.4(BRCA1):c.593+3G>A rs80358013 0.00007
NM_007294.4(BRCA1):c.692C>T (p.Thr231Met) rs80357001 0.00007
NM_000059.4(BRCA2):c.1011C>T (p.Asn337=) rs41293473 0.00006
NM_000059.4(BRCA2):c.2320A>G (p.Thr774Ala) rs55968715 0.00006
NM_000059.4(BRCA2):c.2957A>G (p.Asn986Ser) rs28897718 0.00006
NM_000059.4(BRCA2):c.6215C>G (p.Ser2072Cys) rs80358862 0.00006
NM_000059.4(BRCA2):c.7051G>A (p.Ala2351Thr) rs80358930 0.00006
NM_007294.4(BRCA1):c.1243G>A (p.Val415Ile) rs587782770 0.00006
NM_007294.4(BRCA1):c.1724A>G (p.Glu575Gly) rs111539978 0.00006
NM_007294.4(BRCA1):c.3608G>A (p.Arg1203Gln) rs55930959 0.00006
NM_000059.4(BRCA2):c.2550A>G (p.Gln850=) rs80359785 0.00005
NM_000059.4(BRCA2):c.5985C>T (p.Asn1995=) rs374620036 0.00005
NM_000059.4(BRCA2):c.8092G>A (p.Ala2698Thr) rs80359052 0.00005
NM_000059.4(BRCA2):c.8807T>C (p.Leu2936Ser) rs398122714 0.00005
NM_000059.4(BRCA2):c.9087G>A (p.Ala3029=) rs368576266 0.00005
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102 0.00005
NM_007294.4(BRCA1):c.4046C>T (p.Thr1349Met) rs80357345 0.00005
NM_007294.4(BRCA1):c.5117G>C (p.Gly1706Ala) rs80356860 0.00005
NM_000059.4(BRCA2):c.1181A>C (p.Glu394Ala) rs56016241 0.00004
NM_000059.4(BRCA2):c.136C>T (p.Pro46Ser) rs80358425 0.00004
NM_000059.4(BRCA2):c.1762A>G (p.Asn588Asp) rs398122731 0.00004
NM_000059.4(BRCA2):c.267G>A (p.Pro89=) rs587780648 0.00004
NM_000059.4(BRCA2):c.280C>T (p.Pro94Ser) rs80358531 0.00004
NM_000059.4(BRCA2):c.352C>T (p.Arg118Cys) rs375125172 0.00004
NM_000059.4(BRCA2):c.4531G>A (p.Glu1511Lys) rs376338226 0.00004
NM_000059.4(BRCA2):c.5319G>A (p.Glu1773=) rs376257217 0.00004
NM_000059.4(BRCA2):c.8420C>T (p.Ser2807Leu) rs55763607 0.00004
NM_000059.4(BRCA2):c.8723T>G (p.Val2908Gly) rs28897753 0.00004
NM_000059.4(BRCA2):c.9586A>G (p.Lys3196Glu) rs80359228 0.00004
NM_000465.4(BARD1):c.773T>C (p.Ile258Thr) rs146223579 0.00004
NM_007294.4(BRCA1):c.2669G>T (p.Gly890Val) rs80356874 0.00004
NM_007294.4(BRCA1):c.75C>T (p.Pro25=) rs80356839 0.00004
NM_000059.4(BRCA2):c.1564G>C (p.Gly522Arg) rs80358442 0.00003
NM_000059.4(BRCA2):c.3581G>A (p.Gly1194Asp) rs28897721 0.00003
NM_000059.4(BRCA2):c.3682A>G (p.Asn1228Asp) rs28897722 0.00003
NM_000059.4(BRCA2):c.5986G>A (p.Ala1996Thr) rs80358833 0.00003
NM_000059.4(BRCA2):c.6847C>G (p.Pro2283Ala) rs80358909 0.00003
NM_000059.4(BRCA2):c.6935A>T (p.Asp2312Val) rs80358916 0.00003
NM_000059.4(BRCA2):c.8010G>A (p.Ser2670=) rs146430937 0.00003
NM_000059.4(BRCA2):c.8188G>C (p.Ala2730Pro) rs80359066 0.00003
NM_000059.4(BRCA2):c.9235del (p.Val3079fs) rs397507422 0.00003
NM_007294.4(BRCA1):c.116G>A (p.Cys39Tyr) rs80357498 0.00003
NM_007294.4(BRCA1):c.1881C>G (p.Val627=) rs80356838 0.00003
NM_007294.4(BRCA1):c.3362A>G (p.Asn1121Ser) rs80356919 0.00003
NM_007294.4(BRCA1):c.4262A>G (p.His1421Arg) rs80357079 0.00003
NM_007294.4(BRCA1):c.5075-6C>A rs397507240 0.00003
NM_007294.4(BRCA1):c.5152+15A>G rs750905289 0.00003
NM_007294.4(BRCA1):c.5347A>C (p.Met1783Leu) rs80357012 0.00003
NM_007294.4(BRCA1):c.594-2A>C rs80358033 0.00003
NM_007294.4(BRCA1):c.81-6T>C rs80358179 0.00003
NM_007294.4(BRCA1):c.811G>A (p.Val271Met) rs80357244 0.00003
NM_000059.4(BRCA2):c.10154G>A (p.Arg3385His) rs80358398 0.00002
NM_000059.4(BRCA2):c.1409A>C (p.Glu470Ala) rs750341436 0.00002
NM_000059.4(BRCA2):c.2299A>C (p.Ser767Arg) rs750755676 0.00002
NM_000059.4(BRCA2):c.2484T>C (p.Tyr828=) rs45619134 0.00002
NM_000059.4(BRCA2):c.3310A>C (p.Thr1104Pro) rs80358577 0.00002
NM_000059.4(BRCA2):c.3916G>A (p.Val1306Ile) rs80358636 0.00002
NM_000059.4(BRCA2):c.5896C>T (p.His1966Tyr) rs80358822 0.00002
NM_000059.4(BRCA2):c.6665A>G (p.Tyr2222Cys) rs397507875 0.00002
NM_000059.4(BRCA2):c.7534C>T (p.Leu2512Phe) rs80358980 0.00002
NM_000059.4(BRCA2):c.8111C>T (p.Ser2704Phe) rs80359054 0.00002
NM_000059.4(BRCA2):c.8386C>T (p.Pro2796Ser) rs146120136 0.00002
NM_000059.4(BRCA2):c.8972G>A (p.Arg2991His) rs80359150 0.00002
NM_000059.4(BRCA2):c.9501+4A>G rs81002848 0.00002
NM_000059.4(BRCA2):c.9728C>T (p.Pro3243Leu) rs80359241 0.00002
NM_007294.4(BRCA1):c.5068A>C (p.Lys1690Gln) rs397507239 0.00002
NM_007294.4(BRCA1):c.509G>A (p.Arg170Gln) rs80357264 0.00002
NM_007294.4(BRCA1):c.5175A>G (p.Glu1725=) rs191373374 0.00002
NM_007294.4(BRCA1):c.5531T>G (p.Leu1844Arg) rs80357323 0.00002
NM_000059.4(BRCA2):c.10023C>T (p.Asp3341=) rs113507014 0.00001
NM_000059.4(BRCA2):c.10150C>T (p.Arg3384Ter) rs397507568 0.00001
NM_000059.4(BRCA2):c.232C>T (p.Pro78Ser) rs398122745 0.00001
NM_000059.4(BRCA2):c.2364C>T (p.Gly788=) rs773035582 0.00001
NM_000059.4(BRCA2):c.2524G>C (p.Val842Leu) rs587782454 0.00001
NM_000059.4(BRCA2):c.2698A>G (p.Asn900Asp) rs55736268 0.00001
NM_000059.4(BRCA2):c.4037del (p.Thr1346fs) rs1162394508 0.00001
NM_000059.4(BRCA2):c.4039_4043del (p.Val1347fs) rs1370021869 0.00001
NM_000059.4(BRCA2):c.4315G>A (p.Ala1439Thr) rs80358666 0.00001
NM_000059.4(BRCA2):c.4850G>A (p.Ser1617Asn) rs397507341 0.00001
NM_000059.4(BRCA2):c.599C>T (p.Thr200Ile) rs587781402 0.00001
NM_000059.4(BRCA2):c.6231G>C (p.Lys2077Asn) rs541826447 0.00001
NM_000059.4(BRCA2):c.6859A>T (p.Arg2287Ter) rs876661261 0.00001
NM_000059.4(BRCA2):c.7759C>T (p.Leu2587Phe) rs56335340 0.00001
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035 0.00001
NM_000059.4(BRCA2):c.8063T>C (p.Leu2688Pro) rs80359045 0.00001
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln) rs80359076 0.00001
NM_000059.4(BRCA2):c.8377G>A (p.Gly2793Arg) rs80359082 0.00001
NM_000059.4(BRCA2):c.847A>G (p.Ile283Val) rs80359097 0.00001
NM_000059.4(BRCA2):c.8524C>T (p.Arg2842Cys) rs80359104 0.00001
NM_000059.4(BRCA2):c.8668C>A (p.Leu2890Ile) rs80359127 0.00001
NM_000059.4(BRCA2):c.8866G>C (p.Glu2956Gln) rs142040996 0.00001
NM_000059.4(BRCA2):c.8867A>C (p.Glu2956Ala) rs151174152 0.00001
NM_000059.4(BRCA2):c.9032T>C (p.Leu3011Pro) rs80359155 0.00001
NM_000059.4(BRCA2):c.9242T>C (p.Val3081Ala) rs80359189 0.00001
NM_000059.4(BRCA2):c.927A>G (p.Ser309=) rs80359806 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000059.4(BRCA2):c.9396A>G (p.Lys3132=) rs201172050 0.00001
NM_000059.4(BRCA2):c.9433G>C (p.Val3145Leu) rs587776476 0.00001
NM_000059.4(BRCA2):c.9509A>G (p.Asp3170Gly) rs80359224 0.00001
NM_000059.4(BRCA2):c.963A>G (p.Gln321=) rs276174927 0.00001
NM_000059.4(BRCA2):c.9645T>A (p.Leu3215=) rs755111487 0.00001
NM_000059.4(BRCA2):c.987G>A (p.Arg329=) rs561002197 0.00001
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys) rs201206424 0.00001
NM_007294.4(BRCA1):c.1258G>T (p.Asp420Tyr) rs80357488 0.00001
NM_007294.4(BRCA1):c.1397G>A (p.Arg466Gln) rs199540030 0.00001
NM_007294.4(BRCA1):c.154C>T (p.Leu52Phe) rs80357084 0.00001
NM_007294.4(BRCA1):c.1772T>C (p.Ile591Thr) rs80356859 0.00001
NM_007294.4(BRCA1):c.212+3A>G rs80358083 0.00001
NM_007294.4(BRCA1):c.2393C>T (p.Pro798Leu) rs876660005 0.00001
NM_007294.4(BRCA1):c.2597G>A (p.Arg866His) rs80356911 0.00001
NM_007294.4(BRCA1):c.301+12A>C rs863224757 0.00001
NM_007294.4(BRCA1):c.301+1G>T rs587782173 0.00001
NM_007294.4(BRCA1):c.3416G>T (p.Ser1139Ile) rs80357228 0.00001
NM_007294.4(BRCA1):c.3746C>G (p.Thr1249Ser) rs80357099 0.00001
NM_007294.4(BRCA1):c.3800T>C (p.Leu1267Ser) rs587782190 0.00001
NM_007294.4(BRCA1):c.4185+4105C>T rs1597853155 0.00001
NM_007294.4(BRCA1):c.441+8C>T rs756130118 0.00001
NM_007294.4(BRCA1):c.4485-10A>G rs863224420 0.00001
NM_007294.4(BRCA1):c.4534A>T (p.Ser1512Cys) rs80357137 0.00001
NM_007294.4(BRCA1):c.5066T>C (p.Met1689Thr) rs80357061 0.00001
NM_007294.4(BRCA1):c.5074G>C (p.Asp1692His) rs80187739 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_007294.4(BRCA1):c.5407-25T>A rs758780152 0.00001
NM_007294.4(BRCA1):c.5467+2T>C rs80358009 0.00001
NM_007294.4(BRCA1):c.734A>T (p.Asp245Val) rs80356865 0.00001
NC_000013.11:g.32337455dup rs886040460
NC_000013.11:g.32339717_32339718delinsA rs1566232310
NC_000013.11:g.32357886A>G rs2137567485
NM_000059.4(BRCA2):c.-59_-57del rs545321666
NM_000059.4(BRCA2):c.10095delinsGAATTATATCT (p.Ser3366fs) rs276174803
NM_000059.4(BRCA2):c.10102T>C (p.Ser3368Pro) rs786205482
NM_000059.4(BRCA2):c.10176del (p.Glu3393fs) rs80359258
NM_000059.4(BRCA2):c.10253_10256del (p.Ile3418fs) rs80359259
NM_000059.4(BRCA2):c.1056C>T (p.Tyr352=) rs786201858
NM_000059.4(BRCA2):c.1077A>G (p.Glu359=) rs1135401832
NM_000059.4(BRCA2):c.1166C>A (p.Pro389Gln) rs397507263
NM_000059.4(BRCA2):c.1202C>A (p.Ser401Ter) rs80358413
NM_000059.4(BRCA2):c.1219C>T (p.Gln407Ter) rs781079248
NM_000059.4(BRCA2):c.125_132dup (p.Glu45fs) rs483353112
NM_000059.4(BRCA2):c.1362del (p.Lys454fs) rs80359282
NM_000059.4(BRCA2):c.1440C>A (p.Cys480Ter) rs1555281911
NM_000059.4(BRCA2):c.1645A>G (p.Lys549Glu) rs1555281997
NM_000059.4(BRCA2):c.1733del (p.Gly578fs) rs879255326
NM_000059.4(BRCA2):c.1780A>G (p.Ile594Val) rs431825287
NM_000059.4(BRCA2):c.1792dup (p.Thr598fs) rs886040389
NM_000059.4(BRCA2):c.1804G>T (p.Gly602Ter) rs80358466
NM_000059.4(BRCA2):c.1817_1819delinsTTT (p.Pro606_Lys607delinsLeuTer) rs587779358
NM_000059.4(BRCA2):c.1846del (p.Cys616fs) rs1566224496
NM_000059.4(BRCA2):c.1850C>A (p.Ser617Ter) rs397507278
NM_000059.4(BRCA2):c.1909+22dup rs276174816
NM_000059.4(BRCA2):c.1909+9_1909+10del rs527732001
NM_000059.4(BRCA2):c.1910-1G>T rs1566225769
NM_000059.4(BRCA2):c.2106del (p.Thr703fs) rs2072450488
NM_000059.4(BRCA2):c.2176del (p.Val726fs) rs1555282499
NM_000059.4(BRCA2):c.2253_2254del (p.Asp752fs) rs398122744
NM_000059.4(BRCA2):c.241T>A (p.Phe81Ile) rs80358507
NM_000059.4(BRCA2):c.2581C>T (p.Gln861Ter) rs773356478
NM_000059.4(BRCA2):c.2606C>G (p.Ser869Ter) rs80358523
NM_000059.4(BRCA2):c.2658_2659del (p.Asn886fs) rs397507291
NM_000059.4(BRCA2):c.2672dup (p.Phe892fs) rs2072462600
NM_000059.4(BRCA2):c.2731del (p.Glu911fs) rs80359344
NM_000059.4(BRCA2):c.277T>C (p.Ser93Pro) rs776730435
NM_000059.4(BRCA2):c.2786del (p.Leu929fs) rs80359347
NM_000059.4(BRCA2):c.2834_2835del (p.Lys945fs) rs80359356
NM_000059.4(BRCA2):c.2870del (p.Asn957fs) rs397507645
NM_000059.4(BRCA2):c.2886_3144del (p.His962fs) rs2072467220
NM_000059.4(BRCA2):c.2T>C (p.Met1Thr) rs80358547
NM_000059.4(BRCA2):c.3059_3060del (p.Leu1019_Ser1020insTer) rs876661270
NM_000059.4(BRCA2):c.3069del (p.Asn1023fs) rs876658555
NM_000059.4(BRCA2):c.3086dup (p.Met1029fs) rs2072472083
NM_000059.4(BRCA2):c.3100_3101del (p.Asp1033_Ile1034insTer) rs1555283051
NM_000059.4(BRCA2):c.316+5G>A rs81002840
NM_000059.4(BRCA2):c.3273_3276del (p.Leu1091fs) rs80359382
NM_000059.4(BRCA2):c.3385C>T (p.Gln1129Ter) rs1555283209
NM_000059.4(BRCA2):c.3405C>A (p.Tyr1135Ter) rs876659258
NM_000059.4(BRCA2):c.3436G>T (p.Glu1146Ter) rs1237049560
NM_000059.4(BRCA2):c.3481_3482dup (p.Asp1161fs) rs878853569
NM_000059.4(BRCA2):c.3649del (p.Arg1217fs) rs864622134
NM_000059.4(BRCA2):c.3703C>T (p.Gln1235Ter) rs1555283366
NM_000059.4(BRCA2):c.3738_3741del (p.Asn1246fs) rs1555283381
NM_000059.4(BRCA2):c.376C>T (p.Gln126Ter) rs1555280859
NM_000059.4(BRCA2):c.3786A>T (p.Ser1262=) rs1042077901
NM_000059.4(BRCA2):c.383A>G (p.Asp128Gly) rs80358627
NM_000059.4(BRCA2):c.3858_3860del (p.Lys1286del) rs80359406
NM_000059.4(BRCA2):c.3866_3868dup (p.Cys1290Ter) rs1555283442
NM_000059.4(BRCA2):c.3914_3915del (p.Phe1305fs) rs397507698
NM_000059.4(BRCA2):c.3937del (p.Tyr1313fs) rs1566229421
NM_000059.4(BRCA2):c.3994C>T (p.His1332Tyr) rs863224588
NM_000059.4(BRCA2):c.3G>A (p.Met1Ile) rs80358650
NM_000059.4(BRCA2):c.403_410dup (p.Ser137_Cys138insTer) rs1566218217
NM_000059.4(BRCA2):c.4092_4093insAA (p.Cys1365fs) rs876658329
NM_000059.4(BRCA2):c.4143AGA[1] (p.Glu1382del) rs80359432
NM_000059.4(BRCA2):c.425+1G>A rs587782590
NM_000059.4(BRCA2):c.425+2T>C rs876661045
NM_000059.4(BRCA2):c.425+5G>C rs1388671241
NM_000059.4(BRCA2):c.425G>T (p.Ser142Ile) rs397507713
NM_000059.4(BRCA2):c.4263dup (p.Glu1422Ter) rs1555283664
NM_000059.4(BRCA2):c.4502A>G (p.Asn1501Ser) rs545444016
NM_000059.4(BRCA2):c.452dup (p.Thr152fs) rs2072343917
NM_000059.4(BRCA2):c.4570_4573del (p.Phe1524fs) rs1057517565
NM_000059.4(BRCA2):c.4591A>T (p.Lys1531Ter) rs1555283865
NM_000059.4(BRCA2):c.4632_4636del (p.Asn1544_Leu1545insTer) rs2137508514
NM_000059.4(BRCA2):c.469_470del (p.Lys157fs) rs397507739
NM_000059.4(BRCA2):c.475+4del rs276174848
NM_000059.4(BRCA2):c.475+5G>T rs730881504
NM_000059.4(BRCA2):c.4795AAT[1] (p.Asn1600del) rs276174851
NM_000059.4(BRCA2):c.4804A>T (p.Lys1602Ter) rs1566231167
NM_000059.4(BRCA2):c.4894_4895del (p.Ser1632fs) rs397507748
NM_000059.4(BRCA2):c.4921G>T (p.Glu1641Ter) rs1566231364
NM_000059.4(BRCA2):c.4928T>C (p.Val1643Ala) rs28897731
NM_000059.4(BRCA2):c.5095G>A (p.Asp1699Asn) rs80358731
NM_000059.4(BRCA2):c.516+2T>A rs397507764
NM_000059.4(BRCA2):c.516G>A (p.Lys172=) rs80359790
NM_000059.4(BRCA2):c.5200dup (p.Glu1734fs) rs1555284103
NM_000059.4(BRCA2):c.5225_5230del (p.Asn1742_Ser1743del) rs276174855
NM_000059.4(BRCA2):c.534del (p.Lys178fs) rs1191198388
NM_000059.4(BRCA2):c.5362dup (p.Ser1788fs) rs587781849
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs) rs80359520
NM_000059.4(BRCA2):c.5610C>G (p.Phe1870Leu) rs1060504598
NM_000059.4(BRCA2):c.5653del (p.Cys1885fs) rs886040602
NM_000059.4(BRCA2):c.5747A>G (p.His1916Arg) rs431825334
NM_000059.4(BRCA2):c.5779G>T (p.Glu1927Ter) rs886038131
NM_000059.4(BRCA2):c.5855T>A (p.Leu1952Ter) rs375064902
NM_000059.4(BRCA2):c.5862_5863del (p.Ser1955fs) rs786202700
NM_000059.4(BRCA2):c.6116T>G (p.Leu2039Ter) rs1555284559
NM_000059.4(BRCA2):c.6125A>C (p.Gln2042Pro) rs80358852
NM_000059.4(BRCA2):c.6155dup (p.Ser2053fs) rs1566234047
NM_000059.4(BRCA2):c.6237G>A (p.Val2079=) rs864622516
NM_000059.4(BRCA2):c.627C>A (p.Leu209=) rs28897704
NM_000059.4(BRCA2):c.631G>C (p.Val211Leu) rs80358871
NM_000059.4(BRCA2):c.6393del (p.Lys2131fs) rs886038145
NM_000059.4(BRCA2):c.6415_6426delinsTGTTTAGTTAG (p.Glu2139fs) rs2072554847
NM_000059.4(BRCA2):c.6487C>T (p.Gln2163Ter) rs398122559
NM_000059.4(BRCA2):c.6588_6589del (p.Lys2196fs) rs397507868
NM_000059.4(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000059.4(BRCA2):c.6649A>T (p.Lys2217Ter) rs1555284779
NM_000059.4(BRCA2):c.67+16A>G rs529148674
NM_000059.4(BRCA2):c.6762del (p.Phe2254fs) rs80359624
NM_000059.4(BRCA2):c.68-2A>G rs769152395
NM_000059.4(BRCA2):c.68-7del rs276174878
NM_000059.4(BRCA2):c.681+2dup rs587781486
NM_000059.4(BRCA2):c.681+4A>G rs397507884
NM_000059.4(BRCA2):c.6847C>A (p.Pro2283Thr) rs80358909
NM_000059.4(BRCA2):c.6865_6866del (p.Leu2289fs) rs2137536911
NM_000059.4(BRCA2):c.6938-2A>G rs81002863
NM_000059.4(BRCA2):c.6980del (p.Ser2326_Leu2327insTer) rs879255306
NM_000059.4(BRCA2):c.7007+5G>A rs81002816
NM_000059.4(BRCA2):c.7007G>T (p.Arg2336Leu) rs28897743
NM_000059.4(BRCA2):c.7033C>T (p.Gln2345Ter) rs886040685
NM_000059.4(BRCA2):c.7097dup (p.Thr2367fs) rs786202600
NM_000059.4(BRCA2):c.7110dup (p.Ser2371fs) rs80359638
NM_000059.4(BRCA2):c.7124T>G (p.Leu2375Ter) rs886040687
NM_000059.4(BRCA2):c.7147dup (p.Tyr2383fs) rs878853599
NM_000059.4(BRCA2):c.7186_7187del (p.Leu2396fs) rs1555286031
NM_000059.4(BRCA2):c.718_719del (p.Leu240fs) rs1555281459
NM_000059.4(BRCA2):c.7219_7220del (p.Val2407fs) rs2137556981
NM_000059.4(BRCA2):c.7414_7415del (p.Lys2472fs) rs80359650
NM_000059.4(BRCA2):c.7435+10G>A rs81002793
NM_000059.4(BRCA2):c.7436-1G>T rs886040939
NM_000059.4(BRCA2):c.7525dup (p.Ser2509fs) rs80359656
NM_000059.4(BRCA2):c.7529T>C (p.Leu2510Pro) rs80358979
NM_000059.4(BRCA2):c.7625C>T (p.Thr2542Met) rs80358989
NM_000059.4(BRCA2):c.7682A>C (p.Gln2561Pro) rs55647716
NM_000059.4(BRCA2):c.7717_7718del (p.Leu2573fs) rs2137567005
NM_000059.4(BRCA2):c.7753G>A (p.Gly2585Arg) rs80359002
NM_000059.4(BRCA2):c.7786G>A (p.Gly2596Arg) rs398122591
NM_000059.4(BRCA2):c.7787G>A (p.Gly2596Glu) rs1064795140
NM_000059.4(BRCA2):c.7792GAA[1] (p.Glu2599del) rs80359682
NM_000059.4(BRCA2):c.7826G>T (p.Gly2609Val) rs80359009
NM_000059.4(BRCA2):c.7832A>G (p.Asp2611Gly) rs80359010
NM_000059.4(BRCA2):c.7847C>T (p.Ser2616Phe) rs1174303167
NM_000059.4(BRCA2):c.7868A>G (p.His2623Arg) rs80359012
NM_000059.4(BRCA2):c.7872T>G (p.Tyr2624Ter) rs863224468
NM_000059.4(BRCA2):c.7884dup (p.Trp2629fs) rs397507943
NM_000059.4(BRCA2):c.7958T>C (p.Leu2653Pro) rs80359022
NM_000059.4(BRCA2):c.7976+1G>A rs81002873
NM_000059.4(BRCA2):c.7977-3_7977-2delinsAG rs1135401921
NM_000059.4(BRCA2):c.799G>T (p.Gly267Ter) rs786202796
NM_000059.4(BRCA2):c.8009C>G (p.Ser2670Trp) rs80359035
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) rs397507954
NM_000059.4(BRCA2):c.8057T>C (p.Leu2686Pro) rs28897746
NM_000059.4(BRCA2):c.8099del (p.Ile2700fs) rs2137580749
NM_000059.4(BRCA2):c.8162T>A (p.Leu2721His) rs80359061
NM_000059.4(BRCA2):c.8167G>A (p.Asp2723Asn) rs41293511
NM_000059.4(BRCA2):c.8168A>C (p.Asp2723Ala) rs41293513
NM_000059.4(BRCA2):c.8168A>T (p.Asp2723Val) rs41293513
NM_000059.4(BRCA2):c.8331+2T>G rs398122602
NM_000059.4(BRCA2):c.8332-2A>G rs587782774
NM_000059.4(BRCA2):c.8342A>G (p.Asn2781Ser) rs1434821822
NM_000059.4(BRCA2):c.8362T>C (p.Trp2788Arg) rs80359079
NM_000059.4(BRCA2):c.8363G>C (p.Trp2788Ser) rs80359080
NM_000059.4(BRCA2):c.8375T>C (p.Leu2792Pro) rs28897751
NM_000059.4(BRCA2):c.8378G>A (p.Gly2793Glu) rs80359083
NM_000059.4(BRCA2):c.8470A>T (p.Arg2824Ter) rs886040778
NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg) rs80359100
NM_000059.4(BRCA2):c.8488-20T>G rs1593930846
NM_000059.4(BRCA2):c.8501del (p.Thr2834fs) rs80359712
NM_000059.4(BRCA2):c.8632+2T>G rs397507998
NM_000059.4(BRCA2):c.8632G>A (p.Glu2878Lys) rs398122710
NM_000059.4(BRCA2):c.8754+4A>G rs81002893
NM_000059.4(BRCA2):c.8754+4A>T rs81002893
NM_000059.4(BRCA2):c.8754G>A (p.Glu2918=) rs80359803
NM_000059.4(BRCA2):c.8850G>A (p.Lys2950=) rs28897754
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.4(BRCA2):c.8868dup (p.Gln2957fs) rs1555288386
NM_000059.4(BRCA2):c.8924del (p.Val2975fs) rs397508020
NM_000059.4(BRCA2):c.8931T>A (p.Tyr2977Ter) rs886040801
NM_000059.4(BRCA2):c.8954-2A>C rs1135401928
NM_000059.4(BRCA2):c.8954-2A>G rs1135401928
NM_000059.4(BRCA2):c.8954-2A>T rs1135401928
NM_000059.4(BRCA2):c.8954-5A>G rs886040949
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152
NM_000059.4(BRCA2):c.9006A>T (p.Glu3002Asp) rs80359153
NM_000059.4(BRCA2):c.9008G>A (p.Gly3003Glu) rs1566253139
NM_000059.4(BRCA2):c.9016_9017del (p.Tyr3006fs) rs80359739
NM_000059.4(BRCA2):c.9041C>G (p.Ser3014Ter) rs80359156
NM_000059.4(BRCA2):c.9045del (p.Lys3015fs) rs2137622994
NM_000059.4(BRCA2):c.9096_9097del (p.Lys3032fs) rs397507419
NM_000059.4(BRCA2):c.9104A>C (p.Tyr3035Ser) rs80359165
NM_000059.4(BRCA2):c.9116C>T (p.Pro3039Leu) rs80359167
NM_000059.4(BRCA2):c.9118-6C>A
NM_000059.4(BRCA2):c.9127G>T (p.Glu3043Ter) rs398122610
NM_000059.4(BRCA2):c.91T>G (p.Trp31Gly) rs80359182
NM_000059.4(BRCA2):c.9218A>G (p.Asp3073Gly) rs80359186
NM_000059.4(BRCA2):c.9227G>A (p.Gly3076Glu) rs80359187
NM_000059.4(BRCA2):c.9227G>T (p.Gly3076Val) rs80359187
NM_000059.4(BRCA2):c.9256_9256+1delinsTA rs587781422
NM_000059.4(BRCA2):c.9257-2A>G rs886040954
NM_000059.4(BRCA2):c.9286dup (p.Glu3096fs) rs778782209
NM_000059.4(BRCA2):c.9374T>A (p.Leu3125His) rs80359209
NM_000059.4(BRCA2):c.9421G>A (p.Gly3141Arg) rs1566259143
NM_000059.4(BRCA2):c.9593_9594del (p.Cys3198fs) rs1566260198
NM_000059.4(BRCA2):c.9649-1G>T rs1555289898
NM_000059.4(BRCA2):c.9770_9771del (p.Lys3257fs) rs1566260997
NM_000059.4(BRCA2):c.9925G>T (p.Glu3309Ter) rs80359251
NM_000465.4(BARD1):c.1935_1954dup (p.Glu652fs) rs587780024
NM_002878.4(RAD51D):c.270_271dup (p.Lys91fs) rs753862052
NM_002878.4(RAD51D):c.904-2A>T rs1403784434
NM_007194.4(CHEK2):c.846+4_846+7del rs764884641
NM_007294.3(BRCA1):c.81-?_134+?del
NM_007294.4(BRCA1):c.*873del rs59541324
NM_007294.4(BRCA1):c.1016A>G (p.Lys339Arg) rs587781737
NM_007294.4(BRCA1):c.1044T>A (p.Cys348Ter) rs886037985
NM_007294.4(BRCA1):c.1091_1092del (p.Pro364fs) rs1555592526
NM_007294.4(BRCA1):c.1168G>A (p.Asp390Asn) rs2154472475
NM_007294.4(BRCA1):c.1232A>T (p.Asp411Val) rs730881469
NM_007294.4(BRCA1):c.1292del (p.Leu431fs) rs80357528
NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe) rs80357446
NM_007294.4(BRCA1):c.134+1G>C rs80358043
NM_007294.4(BRCA1):c.1356del (p.Glu453fs) rs80357939
NM_007294.4(BRCA1):c.1363_1364insT (p.Asn455fs) rs1555591850
NM_007294.4(BRCA1):c.1387_1390delinsGAAAG (p.Lys463fs) rs80357770
NM_007294.4(BRCA1):c.1391C>T (p.Thr464Ile) rs62625301
NM_007294.4(BRCA1):c.1400A>G (p.Lys467Arg) rs876659316
NM_007294.4(BRCA1):c.140G>A (p.Cys47Tyr) rs80357150
NM_007294.4(BRCA1):c.14C>T (p.Ala5Val) rs1335137805
NM_007294.4(BRCA1):c.1843TCT[1] (p.Ser616del) rs80358329
NM_007294.4(BRCA1):c.1A>G (p.Met1Val) rs80357287
NM_007294.4(BRCA1):c.203T>G (p.Ile68Arg) rs80357116
NM_007294.4(BRCA1):c.212+17T>C rs369461674
NM_007294.4(BRCA1):c.2120G>A (p.Gly707Asp) rs80357192
NM_007294.4(BRCA1):c.2263del (p.Glu755fs) rs80357960
NM_007294.4(BRCA1):c.2283A>C (p.Glu761Asp) rs1567796302
NM_007294.4(BRCA1):c.2295del (p.Ser766fs) rs1567796243
NM_007294.4(BRCA1):c.2346dup (p.Ile783fs) rs886040027
NM_007294.4(BRCA1):c.2429dup (p.Asn810fs) rs397508967
NM_007294.4(BRCA1):c.2619A>T (p.Ser873=) rs1597868763
NM_007294.4(BRCA1):c.2624del (p.Pro875fs) rs2154368003
NM_007294.4(BRCA1):c.2748del (p.Asn916fs) rs398122667
NM_007294.4(BRCA1):c.2764_2767del (p.Thr922fs) rs80357822
NM_007294.4(BRCA1):c.2861dup (p.Ser955fs) rs886040079
NM_007294.4(BRCA1):c.2915del (p.Gly972fs) rs80357573
NM_007294.4(BRCA1):c.301+1G>C rs587782173
NM_007294.4(BRCA1):c.3289dup (p.Ser1097fs) rs80357686
NM_007294.4(BRCA1):c.3328_3330del (p.Lys1110del) rs80358335
NM_007294.4(BRCA1):c.3475dup (p.Ile1159fs) rs1555587638
NM_007294.4(BRCA1):c.3600G>C (p.Gln1200His) rs56214134
NM_007294.4(BRCA1):c.3600G>T (p.Gln1200His) rs56214134
NM_007294.4(BRCA1):c.3681A>T (p.Gln1227His) rs730881488
NM_007294.4(BRCA1):c.3705_3747dup (p.Glu1250delinsGlnTyrThrPheSerValTyrTer) rs797044631
NM_007294.4(BRCA1):c.3865del (p.Thr1289fs) rs2053509532
NM_007294.4(BRCA1):c.3964A>T (p.Lys1322Ter) rs80357343
NM_007294.4(BRCA1):c.4096+3A>G rs80358015
NM_007294.4(BRCA1):c.4116_4117insTT (p.Glu1373fs) rs398122682
NM_007294.4(BRCA1):c.4186-10G>A rs80358172
NM_007294.4(BRCA1):c.4327C>G (p.Arg1443Gly) rs41293455
NM_007294.4(BRCA1):c.4357+6T>C rs80358143
NM_007294.4(BRCA1):c.4396dup (p.Ser1466fs) rs397509170
NM_007294.4(BRCA1):c.442-22_442-13del rs879254224
NM_007294.4(BRCA1):c.442C>T (p.Gln148Ter) rs876659614
NM_007294.4(BRCA1):c.4468G>T (p.Glu1490Ter) rs138608489
NM_007294.4(BRCA1):c.4484+1del rs397509181
NM_007294.4(BRCA1):c.4484+5G>C rs886040910
NM_007294.4(BRCA1):c.4534del (p.Ser1512fs) rs1567778176
NM_007294.4(BRCA1):c.4675+1G>C rs80358044
NM_007294.4(BRCA1):c.4676-1G>A rs80358008
NM_007294.4(BRCA1):c.4860T>C (p.Thr1620=) rs750938749
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly) rs80356862
NM_007294.4(BRCA1):c.4964C>T (p.Ser1655Phe) rs80357390
NM_007294.4(BRCA1):c.4973C>A (p.Thr1658Asn) rs1015073230
NM_007294.4(BRCA1):c.4986+3G>C rs80358023
NM_007294.4(BRCA1):c.4986+5G>A rs397509211
NM_007294.4(BRCA1):c.5003T>C (p.Phe1668Ser) rs1567772408
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del) rs80358343
NM_007294.4(BRCA1):c.5053A>G (p.Thr1685Ala) rs80356890
NM_007294.4(BRCA1):c.5066T>G (p.Met1689Arg) rs80357061
NM_007294.4(BRCA1):c.5074G>A (p.Asp1692Asn) rs80187739
NM_007294.4(BRCA1):c.5075-1G>A rs1800747
NM_007294.4(BRCA1):c.5089_5092del (p.Cys1697fs) rs80357710
NM_007294.4(BRCA1):c.5098A>G (p.Thr1700Ala) rs397509227
NM_007294.4(BRCA1):c.5117G>A (p.Gly1706Glu) rs80356860
NM_007294.4(BRCA1):c.5141T>G (p.Val1714Gly) rs80357243
NM_007294.4(BRCA1):c.5152T>G (p.Trp1718Gly) rs1567769155
NM_007294.4(BRCA1):c.5153G>C (p.Trp1718Ser) rs41293461
NM_007294.4(BRCA1):c.5154G>T (p.Trp1718Cys) rs80357239
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104
NM_007294.4(BRCA1):c.5198A>G (p.Asp1733Gly) rs80357270
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935
NM_007294.4(BRCA1):c.5211A>G (p.Arg1737=) rs1555576963
NM_007294.4(BRCA1):c.5232_5238delinsGTCCAAAGCGAG (p.Asn1745fs) rs483353071
NM_007294.4(BRCA1):c.5236C>G (p.His1746Asp) rs80357146
NM_007294.4(BRCA1):c.5243G>A (p.Gly1748Asp) rs397509243
NM_007294.4(BRCA1):c.5278-2A>C rs397509253
NM_007294.4(BRCA1):c.5297T>G (p.Ile1766Ser) rs80357463
NM_007294.4(BRCA1):c.5306A>G (p.Tyr1769Cys) rs397509257
NM_007294.4(BRCA1):c.5333-3T>G rs397509265
NM_007294.4(BRCA1):c.5357T>C (p.Leu1786Pro) rs398122697
NM_007294.4(BRCA1):c.53T>A (p.Met18Lys) rs80356929
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr) rs80356929
NM_007294.4(BRCA1):c.5406+4_5406+7del rs1555575073
NM_007294.4(BRCA1):c.5425G>A (p.Val1809Ile) rs28897698
NM_007294.4(BRCA1):c.5427dup (p.Val1810fs) rs1555574739
NM_007294.4(BRCA1):c.5453A>G (p.Asp1818Gly) rs80357477
NM_007294.4(BRCA1):c.5468-12C>T rs751653743
NM_007294.4(BRCA1):c.547+1G>A rs80358030
NM_007294.4(BRCA1):c.547+1G>C rs80358030
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met) rs80357268
NM_007294.4(BRCA1):c.5511G>T (p.Trp1837Cys) rs80356914
NM_007294.4(BRCA1):c.5517_5518insC (p.Asp1840fs) rs1597796956
NM_007294.4(BRCA1):c.5522G>A (p.Ser1841Asn) rs80357368
NM_007294.4(BRCA1):c.5556_5560del (p.Tyr1853fs) rs886040305
NM_007294.4(BRCA1):c.5558A>G (p.Tyr1853Cys) rs80357258
NM_007294.4(BRCA1):c.663A>G (p.Ala221=) rs375952040
NM_007294.4(BRCA1):c.671-12del rs273902781
NM_007294.4(BRCA1):c.671-2A>G rs80358108
NM_007294.4(BRCA1):c.70T>C (p.Cys24Arg) rs80357410
NM_007294.4(BRCA1):c.71G>A (p.Cys24Tyr) rs80357198
NM_007294.4(BRCA1):c.81-11T>C rs767144634
NM_007294.4(BRCA1):c.81-13C>G rs56328013
NM_007294.4(BRCA1):c.933del (p.Gly312fs) rs1135401839
NM_032043.3(BRIP1):c.2992_2993del (p.Lys998fs) rs878855151
Single allele

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.