ClinVar Miner

List of variants in gene BRCA1 reported as pathogenic by Sharing Clinical Reports Project (SCRP)

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 443
Download table as spreadsheet
HGVS dbSNP
4586INS5
NM_007294.3(BRCA1):c.*103_*106del rs431825382
NM_007294.3(BRCA1):c.1016del (p.Lys339fs) rs80357569
NM_007294.3(BRCA1):c.1016dup (p.Val340fs) rs80357569
NM_007294.3(BRCA1):c.1018del (p.Lys339_Val340insTer) rs80357774
NM_007294.3(BRCA1):c.1067del (p.Gln356fs) rs80357796
NM_007294.3(BRCA1):c.1082_1092del (p.Cys360_Ser361insTer) rs80359880
NM_007294.3(BRCA1):c.1086_1141del (p.Asn363fs) rs80359875
NM_007294.3(BRCA1):c.1093A>T (p.Arg365Ter) rs398122627
NM_007294.3(BRCA1):c.1121del (p.Thr374fs) rs80357612
NM_007294.3(BRCA1):c.1148_1149del (p.Asn383fs) rs431825384
NM_007294.3(BRCA1):c.115T>C (p.Cys39Arg) rs80357164
NM_007294.3(BRCA1):c.115_116TG[1] (p.Cys39_Asp40delinsTer) rs80357972
NM_007294.3(BRCA1):c.116G>A (p.Cys39Tyr) rs80357498
NM_007294.3(BRCA1):c.116G>T (p.Cys39Phe) rs80357498
NM_007294.3(BRCA1):c.1175_1214del (p.Leu392fs) rs80359874
NM_007294.3(BRCA1):c.1175_1215del (p.Leu392fs) rs397507180
NM_007294.3(BRCA1):c.1175_1216del (p.Leu392_Asn406delinsHis) rs397507181
NM_007294.3(BRCA1):c.1175_1218del (p.Leu392fs) rs397507183
NM_007294.3(BRCA1):c.1177_1219del (p.Leu393fs) rs397507182
NM_007294.3(BRCA1):c.1214C>G (p.Ser405Ter) rs80357481
NM_007294.3(BRCA1):c.1287dupA (p.Asp430Argfs) rs80357576
NM_007294.3(BRCA1):c.1292del (p.Leu431fs) rs80357528
NM_007294.3(BRCA1):c.1298_1299ins4
NM_007294.3(BRCA1):c.130del (p.Cys44fs) rs80357951
NM_007294.3(BRCA1):c.130dup (p.Cys44fs) rs80357951
NM_007294.3(BRCA1):c.131G>A (p.Cys44Tyr) rs80357446
NM_007294.3(BRCA1):c.131G>T (p.Cys44Phe) rs80357446
NM_007294.3(BRCA1):c.1321_1322AT[1] (p.Ile441fs) rs80357570
NM_007294.3(BRCA1):c.1325_1326dup (p.Lys443fs) rs80357543
NM_007294.3(BRCA1):c.1327A>T (p.Lys443Ter) rs398122630
NM_007294.3(BRCA1):c.1336dup (p.Arg446fs) rs80357978
NM_007294.3(BRCA1):c.134+2T>C rs80358131
NM_007294.3(BRCA1):c.135-1G>T rs80358158
NM_007294.3(BRCA1):c.1356_1357AG[2] (p.Glu453_Ser454insTer) rs80357969
NM_007294.3(BRCA1):c.1361del (p.Ser454fs) rs398122632
NM_007294.3(BRCA1):c.1377_1378del (p.Lys459fs) rs398122633
NM_007294.3(BRCA1):c.1380dupA (p.Ile460_Phe461delinsIleIleTrpfs) rs80357714
NM_007294.3(BRCA1):c.1386del (p.Thr464fs) rs80357722
NM_007294.3(BRCA1):c.1387_1390delAAAAins5
NM_007294.3(BRCA1):c.1389_1390delinsG (p.Thr464fs) rs273897659
NM_007294.3(BRCA1):c.1407_1408del (p.Ser470fs) rs879255476
NM_007294.3(BRCA1):c.141C>A (p.Cys47Ter) rs398122635
NM_007294.3(BRCA1):c.1421T>G (p.Leu474Ter) rs80357490
NM_007294.3(BRCA1):c.1434del (p.Glu479fs) rs431825386
NM_007294.3(BRCA1):c.1439dupA (p.Asn480Lysfs) rs80357505
NM_007294.3(BRCA1):c.143del (p.Met48fs) rs80357637
NM_007294.3(BRCA1):c.1444_1447del (p.Leu481_Ile482insTer) rs80357801
NM_007294.3(BRCA1):c.1480C>T (p.Gln494Ter) rs80357010
NM_007294.3(BRCA1):c.1504_1508del (p.Leu502fs) rs80357888
NM_007294.3(BRCA1):c.1510del (p.Arg504fs) rs80357908
NM_007294.3(BRCA1):c.1512dup (p.Lys505Ter) rs398122636
NM_007294.3(BRCA1):c.1556del (p.Lys519fs) rs80357662
NM_007294.3(BRCA1):c.1575dup (p.Gln526fs) rs879255478
NM_007294.3(BRCA1):c.1579_1580del (p.Lys527fs) rs431825387
NM_007294.3(BRCA1):c.1612C>T (p.Gln538Ter) rs80356893
NM_007294.3(BRCA1):c.1612_1616del (p.Gln538fs) rs587776480
NM_007294.3(BRCA1):c.1621C>T (p.Gln541Ter) rs80356904
NM_007294.3(BRCA1):c.1628del (p.Gly543fs) rs398122640
NM_007294.3(BRCA1):c.1674del (p.Gly559fs) rs80357600
NM_007294.3(BRCA1):c.1687C>T (p.Gln563Ter) rs80356898
NM_007294.3(BRCA1):c.1713_1717del (p.Glu572fs) rs80357640
NM_007294.3(BRCA1):c.1728dup (p.Glu577fs) rs397507192
NM_007294.3(BRCA1):c.1744del (p.Thr582fs) rs398122641
NM_007294.3(BRCA1):c.1759_1762del (p.Ile587fs) rs879255479
NM_007294.3(BRCA1):c.1759del (p.Pro586_Ile587insTer) rs398122642
NM_007294.3(BRCA1):c.1772del (p.Ile591fs) rs80357901
NM_007294.3(BRCA1):c.1789G>T (p.Glu597Ter) rs55650082
NM_007294.3(BRCA1):c.178C>T (p.Gln60Ter) rs80357471
NM_007294.3(BRCA1):c.179del (p.Gln60fs) rs80357591
NM_007294.3(BRCA1):c.181T>G (p.Cys61Gly) rs28897672
NM_007294.3(BRCA1):c.1823_1826delAGAA (p.Lys608Ilefs) rs80357585
NM_007294.3(BRCA1):c.182G>A (p.Cys61Tyr) rs80357093
NM_007294.3(BRCA1):c.1854del (p.Arg618fs) rs397507193
NM_007294.3(BRCA1):c.1875del (p.Leu625_Val626insTer) rs398122646
NM_007294.3(BRCA1):c.1877_1878ins4
NM_007294.3(BRCA1):c.1881_1884del (p.Ser628fs) rs80357567
NM_007294.3(BRCA1):c.188T>A (p.Leu63Ter) rs80357086
NM_007294.3(BRCA1):c.18_19insG (p.Arg7fs) rs398122648
NM_007294.3(BRCA1):c.190T>C (p.Cys64Arg) rs80357064
NM_007294.3(BRCA1):c.190T>G (p.Cys64Gly) rs80357064
NM_007294.3(BRCA1):c.1916T>A (p.Leu639Ter) rs80357267
NM_007294.3(BRCA1):c.191G>A (p.Cys64Tyr) rs55851803
NM_007294.3(BRCA1):c.1921del (p.Ile641fs) rs397507194
NM_007294.3(BRCA1):c.1921dup (p.Ile641fs) rs397507194
NM_007294.3(BRCA1):c.1949_1950insCA (p.Lys652fs) rs1555590829
NM_007294.3(BRCA1):c.1953_1956delGAAA (p.Lys653Serfs) rs80357526
NM_007294.3(BRCA1):c.1960A>T (p.Lys654Ter) rs80357355
NM_007294.3(BRCA1):c.1961del (p.Lys654fs) rs80357522
NM_007294.3(BRCA1):c.1961dupA (p.Lys654delinsLysValfs) rs80357522
NM_007294.3(BRCA1):c.1972del (p.Met658fs) rs397507195
NM_007294.3(BRCA1):c.1A>G (p.Met1Val) rs80357287
NM_007294.3(BRCA1):c.2001dup (p.Leu668fs) rs80357521
NM_007294.3(BRCA1):c.2019del (p.Glu673fs) rs80357626
NM_007294.3(BRCA1):c.201_202TA[1] (p.Ile68fs) rs398122651
NM_007294.3(BRCA1):c.2035A>T (p.Lys679Ter) rs80357082
NM_007294.3(BRCA1):c.2070_2071del (p.Arg691fs) rs80357688
NM_007294.3(BRCA1):c.2071del (p.Arg691fs) rs80357688
NM_007294.3(BRCA1):c.2101_2102del (p.Lys701fs) rs431825389
NM_007294.3(BRCA1):c.2105dup (p.Leu702fs) rs80357880
NM_007294.3(BRCA1):c.211A>G (p.Arg71Gly) rs80357382
NM_007294.3(BRCA1):c.212+1G>A rs80358042
NM_007294.3(BRCA1):c.212+1G>T rs80358042
NM_007294.3(BRCA1):c.212+3A>G rs80358083
NM_007294.3(BRCA1):c.2125_2126ins3
NM_007294.3(BRCA1):c.2125_2126insA (p.Phe709fs) rs80357871
NM_007294.3(BRCA1):c.213-11T>G rs80358061
NM_007294.3(BRCA1):c.213-12A>G rs80358163
NM_007294.3(BRCA1):c.2131_2132del (p.Lys711fs) rs398122653
NM_007294.3(BRCA1):c.2138C>G (p.Ser713Ter) rs80357233
NM_007294.3(BRCA1):c.2158G>T (p.Glu720Ter) rs80356875
NM_007294.3(BRCA1):c.2176del (p.Leu726fs) rs80357668
NM_007294.3(BRCA1):c.2197G>T (p.Glu733Ter) rs397508949
NM_007294.3(BRCA1):c.2199del (p.Lys734fs) rs80357944
NM_007294.3(BRCA1):c.2206del (p.Glu736fs) rs80357860
NM_007294.3(BRCA1):c.2210_2211del (p.Thr737fs) rs80357654
NM_007294.3(BRCA1):c.2213_2214dup (p.Lys739fs) rs80357574
NM_007294.3(BRCA1):c.2214del (p.Val740fs) rs80357574
NM_007294.3(BRCA1):c.2216_2217del (p.Lys739fs) rs80357802
NM_007294.3(BRCA1):c.2241del (p.Asp749fs) rs80357650
NM_007294.3(BRCA1):c.2241dupC (p.Lys748Glnfs) rs80357650
NM_007294.3(BRCA1):c.2245_2246dup (p.Asp749fs) rs398122654
NM_007294.3(BRCA1):c.2269del (p.Val757fs) rs80357583
NM_007294.3(BRCA1):c.2292_2293AG[2] (p.Glu765_Ser766insTer) rs80357780
NM_007294.3(BRCA1):c.2299del (p.Ser767fs) rs80357786
NM_007294.3(BRCA1):c.2309C>A (p.Ser770Ter) rs80357063
NM_007294.3(BRCA1):c.2331_2332dup (p.Gly778fs) rs431825390
NM_007294.3(BRCA1):c.2338C>T (p.Gln780Ter) rs80356945
NM_007294.3(BRCA1):c.2386dup (p.Thr796fs) rs398122657
NM_007294.3(BRCA1):c.2389G>T (p.Glu797Ter) rs62625306
NM_007294.3(BRCA1):c.2389_2390del (p.Glu797fs) rs80357695
NM_007294.3(BRCA1):c.2403T>A (p.Cys801Ter) rs80357381
NM_007294.3(BRCA1):c.2410C>T (p.Gln804Ter) rs80356982
NM_007294.3(BRCA1):c.2411_2412del (p.Gln804fs) rs80357664
NM_007294.3(BRCA1):c.241_251del (p.Gln81fs) rs398122659
NM_007294.3(BRCA1):c.2424del (p.Phe808fs) rs397507200
NM_007294.3(BRCA1):c.2433del (p.Lys812fs) rs80357524
NM_007294.3(BRCA1):c.2443del (p.Ile815fs) rs80357598
NM_007294.3(BRCA1):c.2457del (p.Asp821fs) rs80357669
NM_007294.3(BRCA1):c.2475del (p.Asp825fs) rs80357970
NM_007294.3(BRCA1):c.2504_2505ins17 (p.?)
NM_007294.3(BRCA1):c.250G>T (p.Glu84Ter) rs398122661
NM_007294.3(BRCA1):c.2515_2516CA[1] (p.His839fs) rs397508974
NM_007294.3(BRCA1):c.2515del (p.His839fs) rs80357607
NM_007294.3(BRCA1):c.2563C>T (p.Gln855Ter) rs80357131
NM_007294.3(BRCA1):c.2594del (p.Lys865fs) rs80357756
NM_007294.3(BRCA1):c.2603C>G (p.Ser868Ter) rs80356925
NM_007294.3(BRCA1):c.2635G>T (p.Glu879Ter) rs80357251
NM_007294.3(BRCA1):c.2646_2648del (p.Cys882_Ala883delinsTer) rs80357513
NM_007294.3(BRCA1):c.2654del (p.Phe885fs) rs398122663
NM_007294.3(BRCA1):c.2677A>T (p.Lys893Ter) rs80357170
NM_007294.3(BRCA1):c.2679_2682del (p.Lys893fs) rs80357596
NM_007294.3(BRCA1):c.2681_2682del (p.Lys894fs) rs80357971
NM_007294.3(BRCA1):c.2685_2686del (p.Pro897fs) rs80357636
NM_007294.3(BRCA1):c.2686dup (p.Ser896fs) rs80357636
NM_007294.3(BRCA1):c.2706_2707dup (p.Cys903fs) rs80357717
NM_007294.3(BRCA1):c.2710G>T (p.Glu904Ter) rs80357035
NM_007294.3(BRCA1):c.2719_2722del (p.Glu907fs) rs80357731
NM_007294.3(BRCA1):c.2719del (p.Glu907fs) rs879255481
NM_007294.3(BRCA1):c.271_272TG[1] (p.Ala92fs) rs587776485
NM_007294.3(BRCA1):c.2722G>T (p.Glu908Ter) rs80356978
NM_007294.3(BRCA1):c.2727_2730del (p.Asn909fs) rs80357605
NM_007294.3(BRCA1):c.2748del (p.Asn916fs) rs398122667
NM_007294.3(BRCA1):c.2766del (p.Val923fs) rs80357812
NM_007294.3(BRCA1):c.2767_2770del (p.Val923fs) rs80357661
NM_007294.3(BRCA1):c.2774del (p.Ile925fs) rs398122669
NM_007294.3(BRCA1):c.2800C>T (p.Gln934Ter) rs80357223
NM_007294.3(BRCA1):c.2806_2809del (p.Asp936fs) rs80357832
NM_007294.3(BRCA1):c.2834_2836delinsC (p.Ser945fs) rs386134270
NM_007294.3(BRCA1):c.2864C>A (p.Ser955Ter) rs80357295
NM_007294.3(BRCA1):c.2864_2865insT (p.Ser956fs) rs397507205
NM_007294.3(BRCA1):c.2901_2902dup (p.Pro968fs) rs398122670
NM_007294.3(BRCA1):c.2934T>G (p.Tyr978Ter) rs80357115
NM_007294.3(BRCA1):c.2940del (p.Pro981fs) rs80357876
NM_007294.3(BRCA1):c.2955del (p.Ile986fs) rs397509027
NM_007294.3(BRCA1):c.2981_2982del (p.Lys993_Cys994insTer) rs397507207
NM_007294.3(BRCA1):c.2989_2990dup (p.Asn997fs) rs80357829
NM_007294.3(BRCA1):c.2999del (p.Glu1000fs) rs80357991
NM_007294.3(BRCA1):c.3005delA (p.Asn1002Thrfs) rs80357601
NM_007294.3(BRCA1):c.3008_3009del (p.Asn1002_Phe1003insTer) rs80357617
NM_007294.3(BRCA1):c.3013del (p.Glu1005fs) rs80357937
NM_007294.3(BRCA1):c.302-2A>C rs80358011
NM_007294.3(BRCA1):c.302-2delA rs273899695
NM_007294.3(BRCA1):c.3029_3030del (p.Pro1010fs) rs80357510
NM_007294.3(BRCA1):c.3035_3036GA[1] (p.Glu1013fs) rs397507208
NM_007294.3(BRCA1):c.3052_3053ins5
NM_007294.3(BRCA1):c.3084_3094del (p.Asn1029fs) rs80357647
NM_007294.3(BRCA1):c.3097G>T (p.Glu1033Ter) rs273899698
NM_007294.3(BRCA1):c.3108dup (p.Lys1037Ter) rs80357841
NM_007294.3(BRCA1):c.3112G>T (p.Glu1038Ter) rs80357161
NM_007294.3(BRCA1):c.3164_3165ins4
NM_007294.3(BRCA1):c.3174del (p.Asn1059fs) rs397507210
NM_007294.3(BRCA1):c.3178G>T (p.Glu1060Ter) rs80357424
NM_007294.3(BRCA1):c.3193dup (p.Asp1065fs) rs80357511
NM_007294.3(BRCA1):c.3204del (p.Gln1069fs) rs398122673
NM_007294.3(BRCA1):c.3226_3227AG[1] (p.Gly1077fs) rs80357635
NM_007294.3(BRCA1):c.3253dupA (p.Arg1085Lysfs) rs80357517
NM_007294.3(BRCA1):c.3254_3255dup (p.Leu1086fs) rs80357624
NM_007294.3(BRCA1):c.3257T>G (p.Leu1086Ter) rs80357006
NM_007294.3(BRCA1):c.3257del (p.Arg1085_Leu1086insTer) rs80357858
NM_007294.3(BRCA1):c.329_330del (p.Lys110fs) rs80357754
NM_007294.3(BRCA1):c.329del (p.Lys110fs) rs80357604
NM_007294.3(BRCA1):c.329dup (p.Glu111fs) rs80357604
NM_007294.3(BRCA1):c.3329_3330del (p.Lys1110fs) rs80357525
NM_007294.3(BRCA1):c.3331_3334del (p.Gln1111fs) rs80357701
NM_007294.3(BRCA1):c.3342_3345del (p.Glu1114_Glu1115insTer) rs397509058
NM_007294.3(BRCA1):c.3352C>T (p.Gln1118Ter) rs397507215
NM_007294.3(BRCA1):c.3358_3359del (p.Thr1119_Val1120insTer) rs80357945
NM_007294.3(BRCA1):c.3359_3360del (p.Val1120fs) rs80357843
NM_007294.3(BRCA1):c.3389C>G (p.Ser1130Ter) rs80357405
NM_007294.3(BRCA1):c.3390del (p.Asp1131fs) rs80357900
NM_007294.3(BRCA1):c.3400G>T (p.Glu1134Ter) rs80357018
NM_007294.3(BRCA1):c.3403C>T (p.Gln1135Ter) rs80357136
NM_007294.3(BRCA1):c.3436_3439del (p.Cys1146fs) rs397509067
NM_007294.3(BRCA1):c.3442del (p.Glu1148fs) rs80357808
NM_007294.3(BRCA1):c.3477_3479delinsC (p.Lys1160fs) rs273899707
NM_007294.3(BRCA1):c.3477_3480del (p.Ile1159fs) rs80357781
NM_007294.3(BRCA1):c.3481_3491del (p.Glu1161fs) rs80357877
NM_007294.3(BRCA1):c.3485del (p.Asp1162fs) rs80357509
NM_007294.3(BRCA1):c.3503del (p.Asn1168fs) rs397507216
NM_007294.3(BRCA1):c.3544C>T (p.Gln1182Ter) rs80357296
NM_007294.3(BRCA1):c.3598C>T (p.Gln1200Ter) rs62625307
NM_007294.3(BRCA1):c.3599_3600del (p.Gln1200fs) rs398122674
NM_007294.3(BRCA1):c.3607C>T (p.Arg1203Ter) rs62625308
NM_007294.3(BRCA1):c.3612del (p.Ala1206fs) rs80357980
NM_007294.3(BRCA1):c.3627dupA (p.Glu1210Argfs) rs80357729
NM_007294.3(BRCA1):c.3648dupA (p.Ser1217Ilefs) rs80357902
NM_007294.3(BRCA1):c.3661G>T (p.Glu1221Ter) rs80357310
NM_007294.3(BRCA1):c.3664G>T (p.Glu1222Ter) rs80357356
NM_007294.3(BRCA1):c.3671_3672ins4
NM_007294.3(BRCA1):c.3672del (p.Cys1225fs) rs398122677
NM_007294.3(BRCA1):c.3676_3679del (p.Phe1226fs) rs80357671
NM_007294.3(BRCA1):c.3683del (p.His1228fs) rs397507217
NM_007294.3(BRCA1):c.368del (p.Ser123fs) rs431825397
NM_007294.3(BRCA1):c.3695_3699GTAAA[1] (p.Val1234fs) rs80357609
NM_007294.3(BRCA1):c.3710del (p.Ile1237fs) rs80357564
NM_007294.3(BRCA1):c.3718C>T (p.Gln1240Ter) rs80356903
NM_007294.3(BRCA1):c.3748G>T (p.Glu1250Ter) rs28897686
NM_007294.3(BRCA1):c.3752_3755GTCT[1] (p.Ser1253fs) rs80357868
NM_007294.3(BRCA1):c.3759_3760del (p.Lys1254fs) rs80357520
NM_007294.3(BRCA1):c.3759del (p.Lys1254fs) rs431825398
NM_007294.3(BRCA1):c.3759dupT (p.Lys1254Terfs) rs80357687
NM_007294.3(BRCA1):c.3761_3762insTT (p.Lys1254fs) rs80357928
NM_007294.3(BRCA1):c.3764dupA (p.Asn1255Lysfs) rs80357848
NM_007294.3(BRCA1):c.3768_3769AG[1] (p.Glu1257fs) rs80357579
NM_007294.3(BRCA1):c.3771_3772delinsC (p.Glu1257fs) rs397507218
NM_007294.3(BRCA1):c.3825dup (p.Leu1276fs) rs397507220
NM_007294.3(BRCA1):c.3839_3843delCTCAGins4
NM_007294.3(BRCA1):c.3851_3852dup (p.Leu1285fs) rs397507221
NM_007294.3(BRCA1):c.3853del (p.Ser1286fs) rs397507222
NM_007294.3(BRCA1):c.3858_3861del (p.Ser1286fs) rs80357842
NM_007294.3(BRCA1):c.3868A>T (p.Lys1290Ter) rs80357254
NM_007294.3(BRCA1):c.3893C>A (p.Ser1298Ter) rs80357440
NM_007294.3(BRCA1):c.3901_3902del (p.Cys1300_Ser1301insTer) rs80357646
NM_007294.3(BRCA1):c.3904G>T (p.Glu1302Ter) rs80357461
NM_007294.3(BRCA1):c.3916_3917del (p.Leu1306fs) rs80357678
NM_007294.3(BRCA1):c.3937C>T (p.Gln1313Ter) rs80357318
NM_007294.3(BRCA1):c.3967C>T (p.Gln1323Ter) rs80357262
NM_007294.3(BRCA1):c.3991C>T (p.Gln1331Ter) rs397507224
NM_007294.3(BRCA1):c.4015G>T (p.Glu1339Ter) rs80357021
NM_007294.3(BRCA1):c.4034_4037AAGA[1] (p.Arg1347fs) rs431825404
NM_007294.3(BRCA1):c.4035del (p.Glu1346fs) rs80357711
NM_007294.3(BRCA1):c.4039_4040AG[1] (p.Gly1348fs) rs80357727
NM_007294.3(BRCA1):c.403A>T (p.Lys135Ter) rs879255485
NM_007294.3(BRCA1):c.4052T>A (p.Leu1351Ter) rs397509132
NM_007294.3(BRCA1):c.4054G>T (p.Glu1352Ter) rs80357202
NM_007294.3(BRCA1):c.4062_4065del (p.Asn1355fs) rs398122679
NM_007294.3(BRCA1):c.4065_4068del (p.Asn1355fs) rs80357508
NM_007294.3(BRCA1):c.4072G>T (p.Glu1358Ter) rs397509136
NM_007294.3(BRCA1):c.4094T>G (p.Leu1365Ter) rs398122681
NM_007294.3(BRCA1):c.4096+1G>A rs80358178
NM_007294.3(BRCA1):c.4097-1G>A rs80358070
NM_007294.3(BRCA1):c.4116_4117insTT (p.Glu1373fs) rs398122682
NM_007294.3(BRCA1):c.4117G>T (p.Glu1373Ter) rs80357259
NM_007294.3(BRCA1):c.4118_4119AG[1] (p.Glu1373_Ser1374insTer) rs80357787
NM_007294.3(BRCA1):c.4155_4156ins10 (p.?)
NM_007294.3(BRCA1):c.4163_4164AG[1] (p.Gln1388_Ser1389insTer) rs80357572
NM_007294.3(BRCA1):c.4182_4183dup (p.Gln1395fs) rs80357742
NM_007294.3(BRCA1):c.4183C>T (p.Gln1395Ter) rs80357260
NM_007294.3(BRCA1):c.4185+1G>T rs80358076
NM_007294.3(BRCA1):c.4185+2T>A rs431825406
NM_007294.3(BRCA1):c.4185+2_4185+22del21insA rs273900724
NM_007294.3(BRCA1):c.4201C>T (p.Gln1401Ter) rs397509151
NM_007294.3(BRCA1):c.4222C>T (p.Gln1408Ter) rs80356989
NM_007294.3(BRCA1):c.4243del (p.Glu1415fs) rs80357981
NM_007294.3(BRCA1):c.4249_4250GT[1] (p.Leu1418fs) rs80357977
NM_007294.3(BRCA1):c.4258C>T (p.Gln1420Ter) rs80357305
NM_007294.3(BRCA1):c.427G>T (p.Glu143Ter) rs80356991
NM_007294.3(BRCA1):c.4327C>T (p.Arg1443Ter) rs41293455
NM_007294.3(BRCA1):c.4339C>T (p.Gln1447Ter) rs80357067
NM_007294.3(BRCA1):c.4348dup (p.Ser1450fs) rs80357548
NM_007294.3(BRCA1):c.4354A>T (p.Lys1452Ter) rs398122685
NM_007294.3(BRCA1):c.4357+1G>A rs80358027
NM_007294.3(BRCA1):c.4357+2T>C rs80358152
NM_007294.3(BRCA1):c.4357+2T>G rs80358152
NM_007294.3(BRCA1):c.4387del (p.Tyr1463fs) rs397507229
NM_007294.3(BRCA1):c.4388_4389ins7
NM_007294.3(BRCA1):c.4389C>A (p.Tyr1463Ter) rs80356997
NM_007294.3(BRCA1):c.4391_4393delinsTT (p.Pro1464fs) rs273900730
NM_007294.3(BRCA1):c.4391del (p.Pro1464fs) rs80357916
NM_007294.3(BRCA1):c.4393del (p.Pro1464_Ile1465insTer) rs397507230
NM_007294.3(BRCA1):c.4427dup (p.Phe1477fs) rs397507231
NM_007294.3(BRCA1):c.4450_4451ins4
NM_007294.3(BRCA1):c.4482_4483del (p.Arg1495fs) rs80357854
NM_007294.3(BRCA1):c.4484+1G>A rs80358063
NM_007294.3(BRCA1):c.4484G>T (p.Arg1495Met) rs80357389
NM_007294.3(BRCA1):c.4493del (p.Pro1498fs) rs398122687
NM_007294.3(BRCA1):c.4524G>A (p.Trp1508Ter) rs80356885
NM_007294.3(BRCA1):c.4574_4575del (p.Gln1525fs) rs80357813
NM_007294.3(BRCA1):c.4587_4590del (p.Ile1529fs) rs431825409
NM_007294.3(BRCA1):c.4603G>T (p.Glu1535Ter) rs80357366
NM_007294.3(BRCA1):c.4609C>T (p.Gln1537Ter) rs80357229
NM_007294.3(BRCA1):c.4612C>T (p.Gln1538Ter) rs80356992
NM_007294.3(BRCA1):c.4618G>T (p.Glu1540Ter) rs80357277
NM_007294.3(BRCA1):c.4655_4658del (p.Tyr1552fs) rs80357561
NM_007294.3(BRCA1):c.466_467CT[2] (p.Leu156_Ser157insTer) rs80357887
NM_007294.3(BRCA1):c.466dup (p.Leu156fs) rs397507236
NM_007294.3(BRCA1):c.4675+1G>A rs80358044
NM_007294.3(BRCA1):c.4675G>A (p.Glu1559Lys) rs80356988
NM_007294.3(BRCA1):c.4678G>T (p.Gly1560Ter) rs80357349
NM_007294.3(BRCA1):c.4689C>G (p.Tyr1563Ter) rs80357433
NM_007294.3(BRCA1):c.4712_4716del (p.Leu1570_Phe1571insTer) rs80357718
NM_007294.3(BRCA1):c.4747_4748AG[1] (p.Arg1583fs) rs80357641
NM_007294.3(BRCA1):c.4775_4779delinsC (p.Asn1592fs) rs397507237
NM_007294.3(BRCA1):c.4801A>T (p.Lys1601Ter) rs80357303
NM_007294.3(BRCA1):c.483_484TG[1] (p.Val162fs) rs80357708
NM_007294.3(BRCA1):c.4868C>G (p.Ala1623Gly) rs80356862
NM_007294.3(BRCA1):c.4888_4889del (p.Glu1630fs) rs879255490
NM_007294.3(BRCA1):c.4964_4982del (p.Ser1655fs) rs80359876
NM_007294.3(BRCA1):c.4986+1G>T rs80358162
NM_007294.3(BRCA1):c.4986+4A>C rs80358087
NM_007294.3(BRCA1):c.4986+4A>T rs80358087
NM_007294.3(BRCA1):c.4986+5G>A rs397509211
NM_007294.3(BRCA1):c.4986+6T>C rs80358086
NM_007294.3(BRCA1):c.4986+6T>G rs80358086
NM_007294.3(BRCA1):c.5027_5031del (p.Thr1675_Leu1676insTer) rs431825410
NM_007294.3(BRCA1):c.5030_5033del (p.Thr1677fs) rs80357580
NM_007294.3(BRCA1):c.5030_5034CTAAT[1] (p.Leu1679fs) rs80357623
NM_007294.3(BRCA1):c.5035del (p.Asn1678_Leu1679insTer) rs80357896
NM_007294.3(BRCA1):c.5066T>G (p.Met1689Arg) rs80357061
NM_007294.3(BRCA1):c.5068A>T (p.Lys1690Ter) rs397507239
NM_007294.3(BRCA1):c.5074+1G>A rs80358053
NM_007294.3(BRCA1):c.5074+2T>C rs80358089
NM_007294.3(BRCA1):c.5074G>C (p.Asp1692His) rs80187739
NM_007294.3(BRCA1):c.5080G>T (p.Glu1694Ter) rs80356896
NM_007294.3(BRCA1):c.5095C>T (p.Arg1699Trp) rs55770810
NM_007294.3(BRCA1):c.5102_5103del (p.Leu1701fs) rs80357608
NM_007294.3(BRCA1):c.5109T>G (p.Tyr1703Ter) rs80356974
NM_007294.3(BRCA1):c.5123C>A (p.Ala1708Glu) rs28897696
NM_007294.3(BRCA1):c.5136G>A (p.Trp1712Ter) rs80357418
NM_007294.3(BRCA1):c.5137del (p.Trp1712_Val1713insTer) rs80357997
NM_007294.3(BRCA1):c.514C>T (p.Gln172Ter) rs80356947
NM_007294.3(BRCA1):c.514del (p.Gln172fs) rs80357872
NM_007294.3(BRCA1):c.5152+1G>A rs80358094
NM_007294.3(BRCA1):c.5152+1G>C rs80358094
NM_007294.3(BRCA1):c.5153-2delA rs273901746
NM_007294.3(BRCA1):c.5154G>A (p.Trp1718Ter) rs80357239
NM_007294.3(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104
NM_007294.3(BRCA1):c.5173_5176GAAA[1] (p.Arg1726fs) rs80357867
NM_007294.3(BRCA1):c.5179A>T (p.Lys1727Ter) rs80357347
NM_007294.3(BRCA1):c.5186del (p.Leu1729fs) rs398122692
NM_007294.3(BRCA1):c.5193+1G>A rs80358004
NM_007294.3(BRCA1):c.5193+1G>T rs80358004
NM_007294.3(BRCA1):c.5193+2delT rs273901751
NM_007294.3(BRCA1):c.5194-2A>G rs80358069
NM_007294.3(BRCA1):c.5232_5238delAAACCACins12 (p.?)
NM_007294.3(BRCA1):c.5251C>T (p.Arg1751Ter) rs80357123
NM_007294.3(BRCA1):c.5259del (p.Glu1754fs) rs80357925
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs80357906
NM_007294.3(BRCA1):c.5268_5269insC (p.Asp1757fs) rs431825414
NM_007294.3(BRCA1):c.5277+1G>A rs80358150
NM_007294.3(BRCA1):c.5277+1delG rs273901754
NM_007294.3(BRCA1):c.5278-1G>C rs80358099
NM_007294.3(BRCA1):c.5297T>G (p.Ile1766Ser) rs80357463
NM_007294.3(BRCA1):c.5319dup (p.Asn1774fs) rs80357823
NM_007294.3(BRCA1):c.5324T>G (p.Met1775Arg) rs41293463
NM_007294.3(BRCA1):c.5335del (p.Gln1779fs) rs80357590
NM_007294.3(BRCA1):c.5341G>T (p.Glu1781Ter) rs397509268
NM_007294.3(BRCA1):c.5346G>A (p.Trp1782Ter) rs80357284
NM_007294.3(BRCA1):c.5353C>T (p.Gln1785Ter) rs80356969
NM_007294.3(BRCA1):c.5359T>A (p.Cys1787Ser) rs80357065
NM_007294.3(BRCA1):c.5363G>A (p.Gly1788Asp) rs80357069
NM_007294.3(BRCA1):c.5363G>T (p.Gly1788Val) rs80357069
NM_007294.3(BRCA1):c.5386del (p.Ser1796fs) rs80357838
NM_007294.3(BRCA1):c.5387C>A (p.Ser1796Ter) rs80357055
NM_007294.3(BRCA1):c.5406+1G>A rs80358028
NM_007294.3(BRCA1):c.5406+5G>A rs80358073
NM_007294.3(BRCA1):c.5406+5G>T rs80358073
NM_007294.3(BRCA1):c.5417del (p.Pro1806fs) rs80357558
NM_007294.3(BRCA1):c.5444G>A (p.Trp1815Ter) rs80356962
NM_007294.3(BRCA1):c.5445G>A (p.Trp1815Ter) rs397509284
NM_007294.3(BRCA1):c.5453A>G (p.Asp1818Gly) rs80357477
NM_007294.3(BRCA1):c.5467+1G>A rs80358145
NM_007294.3(BRCA1):c.547+2T>A rs80358047
NM_007294.3(BRCA1):c.5478_5479dup (p.Met1827fs) rs80357757
NM_007294.3(BRCA1):c.5497G>A (p.Val1833Met) rs80357268
NM_007294.3(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465
NM_007294.3(BRCA1):c.5541C>A (p.Cys1847Ter) rs397509295
NM_007294.3(BRCA1):c.5558dup (p.Tyr1853Ter) rs80357629
NM_007294.3(BRCA1):c.628C>T (p.Gln210Ter) rs879255495
NM_007294.3(BRCA1):c.66_67AG[1] (p.Glu23fs) rs80357914
NM_007294.3(BRCA1):c.66_67AG[3] (p.Cys24fs) rs80357914
NM_007294.3(BRCA1):c.66dupA (p.Glu23Argfs) rs80357783
NM_007294.3(BRCA1):c.670+1G>T rs398122706
NM_007294.3(BRCA1):c.676del (p.Cys226fs) rs80357941
NM_007294.3(BRCA1):c.697_698del (p.Val233fs) rs80357747
NM_007294.3(BRCA1):c.77T>A (p.Ile26Asn) rs879255496
NM_007294.3(BRCA1):c.783T>G (p.Tyr261Ter) rs80357321
NM_007294.3(BRCA1):c.798_799del (p.Ser267fs) rs80357724
NM_007294.3(BRCA1):c.81-1G>A rs80358018
NM_007294.3(BRCA1):c.81-2A>G rs397509326
NM_007294.3(BRCA1):c.824_825ins10 (p.?)
NM_007294.3(BRCA1):c.843_846del (p.Ser282fs) rs80357919
NM_007294.3(BRCA1):c.85G>T (p.Glu29Ter) rs80357443
NM_007294.3(BRCA1):c.922_924delinsT (p.Lys307_Ser308insTer) rs397509335
NM_007294.3(BRCA1):c.929del (p.Gln310fs) rs80357844
NM_007294.3(BRCA1):c.936del (p.Gly312_Leu313insTer) rs398122709
NM_007294.3(BRCA1):c.949C>T (p.Gln317Ter) rs80357211
NM_007294.3(BRCA1):c.952_1015del (p.His318fs) rs80359872
NM_007294.3(BRCA1):c.962G>A (p.Trp321Ter) rs80357292
NM_007294.3(BRCA1):c.964del (p.Ala322fs) rs273903794
NM_007294.3(BRCA1):c.981_982del (p.Thr327_Cys328insTer) rs80357772
NP_009225.1(BRCA1):p.Ala521Ter
NP_009225.1(BRCA1):p.Cys39Ser
NP_009225.1(BRCA1):p.Gly1738Arg
NP_009225.1(BRCA1):p.Leu1086Ter
NP_009225.1(BRCA1):p.Leu1230Ter
NP_009225.1(BRCA1):p.Leu598Ter
NP_009225.1(BRCA1):p.Leu63Ter
NP_009225.1(BRCA1):p.Ser1383Ter
NP_009225.1(BRCA1):p.Ser713Ter
NP_009225.1(BRCA1):p.Ser864Ter
NP_009225.1(BRCA1):p.Ser868Ter
NP_009225.1(BRCA1):p.Ser955Ter
NP_009225.1(BRCA1):p.Trp1508Ter
NP_009225.1(BRCA1):p.Trp1712Ter
NP_009225.1(BRCA1):p.Trp1782Ter
NP_009225.1(BRCA1):p.Trp1815Ter
NP_009225.1(BRCA1):p.Trp321Ter
NP_009225.1(BRCA1):p.Tyr1563Ter
NP_009225.1(BRCA1):p.Tyr1703Ter
NP_009225.1(BRCA1):p.Tyr261Ter
NP_009225.1:p.Ser1007Ter

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.