ClinVar Miner

List of variants reported as likely pathogenic for Hereditary cancer-predisposing syndrome by Sema4, Sema4

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ClinVar version:
Total variants: 257
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HGVS dbSNP gnomAD frequency
NM_002528.7(NTHL1):c.835C>T (p.Gln279Ter) rs146347092 0.00026
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_002485.5(NBN):c.127C>T (p.Arg43Ter) rs200287925 0.00006
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007 0.00005
NM_002439.5(MSH3):c.1341-1G>T rs61754780 0.00004
NM_017849.4(TMEM127):c.245-1G>C rs121908821 0.00004
NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro) rs149364097 0.00004
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys) rs752309409 0.00004
NM_000051.4(ATM):c.2639-384A>G rs1131691154 0.00003
NM_005431.2(XRCC2):c.190C>T (p.Arg64Ter) rs151110146 0.00003
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro) rs587782471 0.00003
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala) rs587780192 0.00003
NM_015450.3(POT1):c.1071dup (p.Gln358fs) rs750470470 0.00003
NM_017849.4(TMEM127):c.464T>A (p.Leu155Ter) rs886039439 0.00003
NM_024675.4(PALB2):c.2730T>A (p.Tyr910Ter) rs995629797 0.00003
NM_032043.3(BRIP1):c.2492+2dup rs587780240 0.00003
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617 0.00002
NM_002485.5(NBN):c.37+1G>A rs574673404 0.00002
NM_002528.7(NTHL1):c.115+1G>A rs749908882 0.00002
NM_002878.4(RAD51D):c.263+1612del rs750282687 0.00002
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu) rs370228071 0.00002
NM_002878.4(RAD51D):c.898C>T (p.Arg300Ter) rs750621215 0.00002
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser) rs200928781 0.00002
NM_007194.4(CHEK2):c.279G>A (p.Trp93Ter) rs587782070 0.00002
NM_020937.4(FANCM):c.1456C>T (p.Arg486Ter) rs1011870043 0.00002
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys) rs202206540 0.00001
NM_000051.4(ATM):c.7032G>A (p.Trp2344Ter) rs1131691162 0.00001
NM_000051.4(ATM):c.8505C>A (p.Cys2835Ter) rs587781597 0.00001
NM_000051.4(ATM):c.9023G>A (p.Arg3008His) rs587781894 0.00001
NM_000059.4(BRCA2):c.632-3C>G rs568027879 0.00001
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075 0.00001
NM_000143.4(FH):c.1255T>C (p.Ser419Pro) rs200004220 0.00001
NM_000465.4(BARD1):c.1205C>G (p.Ser402Ter) rs796666047 0.00001
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp) rs587779337 0.00001
NM_000535.7(PMS2):c.538-2A>G rs758304323 0.00001
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro) rs587779342 0.00001
NM_000546.6(TP53):c.374C>T (p.Thr125Met) rs786201057 0.00001
NM_001048174.2(MUTYH):c.502G>T (p.Glu168Ter) rs745921592 0.00001
NM_001048174.2(MUTYH):c.606G>A (p.Gln202=) rs199989617 0.00001
NM_002439.5(MSH3):c.237+2T>C rs1480047980 0.00001
NM_002439.5(MSH3):c.358+2T>G rs1450314617 0.00001
NM_002439.5(MSH3):c.978_984del (p.Phe326fs) rs1475633334 0.00001
NM_002485.5(NBN):c.171+3A>G rs1487002693 0.00001
NM_002485.5(NBN):c.2117C>G (p.Ser706Ter) rs730881857 0.00001
NM_002485.5(NBN):c.2234+2T>G rs142301194 0.00001
NM_002485.5(NBN):c.481-2A>T rs751567476 0.00001
NM_002878.4(RAD51D):c.442C>T (p.Gln148Ter) rs773906955 0.00001
NM_004260.4(RECQL4):c.2869C>T (p.Gln957Ter) rs368081792 0.00001
NM_004260.4(RECQL4):c.3056-2A>C rs786200889 0.00001
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg) rs72552322 0.00001
NM_007194.4(CHEK2):c.592+3A>T rs587782849 0.00001
NM_007294.4(BRCA1):c.110C>G (p.Thr37Arg) rs80356880 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_015450.3(POT1):c.991C>T (p.Gln331Ter) rs531061783 0.00001
NM_020937.4(FANCM):c.1213C>T (p.Arg405Ter) rs1034818403 0.00001
NM_024675.4(PALB2):c.3350+5G>A rs587782566 0.00001
NM_032043.3(BRIP1):c.193C>T (p.Gln65Ter) rs575595017 0.00001
NM_032043.3(BRIP1):c.2377C>T (p.Gln793Ter) rs587782574 0.00001
NM_000038.6(APC):c.1743+1G>T rs761458613
NM_000038.6(APC):c.3901dup (p.Thr1301fs) rs1554085382
NM_000038.6(APC):c.4009_4010dup (p.Gln1338fs) rs1554085450
NM_000038.6(APC):c.503del (p.Arg168fs) rs2149615791
NM_000038.6(APC):c.5506G>T (p.Gly1836Ter) rs766739164
NM_000038.6(APC):c.7489dup (p.Ser2497fs) rs1409414498
NM_000038.6(APC):c.7904del (p.Thr2635fs) rs2149995957
NM_000051.3(ATM):c.2839-579_2839-576del rs587776552
NM_000051.4(ATM):c.1608-2A>G rs2135338498
NM_000051.4(ATM):c.1817_1818del (p.Leu606fs) rs2135352900
NM_000051.4(ATM):c.2239C>T (p.Gln747Ter) rs2080483369
NM_000051.4(ATM):c.289del (p.Ile97fs) rs878853497
NM_000051.4(ATM):c.3049C>T (p.Gln1017Ter) rs730881388
NM_000051.4(ATM):c.3381_3384del (p.Gln1128fs) rs587781971
NM_000051.4(ATM):c.3485del (p.Leu1162fs) rs2082207948
NM_000051.4(ATM):c.3510dup (p.Gln1171fs) rs876658899
NM_000051.4(ATM):c.3997_3998insCCACCATGCCAGGCTTCTGCGGATGCTTATACGCCTTCAAACCACCGGCCAGCTTGCCCTCCTGCGTGAAGGGAACCGAT (p.Asp1333fs) rs2135735043
NM_000051.4(ATM):c.4374_4377dup (p.Ala1460fs) rs2135764458
NM_000051.4(ATM):c.4523dup (p.Tyr1508Ter) rs2135800044
NM_000051.4(ATM):c.4879del (p.Gln1627fs) rs2135837254
NM_000051.4(ATM):c.495_496+16del rs1555059522
NM_000051.4(ATM):c.5184dup (p.Val1729fs) rs1555105588
NM_000051.4(ATM):c.5762+1G>A rs869312756
NM_000051.4(ATM):c.5858C>T (p.Thr1953Ile) rs587781963
NM_000051.4(ATM):c.6096-9_6096-5del rs879254095
NM_000051.4(ATM):c.6115G>A (p.Glu2039Lys) rs864622251
NM_000051.4(ATM):c.6289G>T (p.Glu2097Ter) rs1555114737
NM_000051.4(ATM):c.6364_6365del (p.Thr2122fs) rs2136219026
NM_000051.4(ATM):c.6585_6586del (p.His2195fs) rs1555119004
NM_000051.4(ATM):c.689del (p.Asn230fs) rs1057518965
NM_000051.4(ATM):c.7181C>T (p.Ser2394Leu) rs587779861
NM_000051.4(ATM):c.8150A>G (p.Lys2717Arg) rs1555127353
NM_000051.4(ATM):c.8292_8293del (p.Ser2764fs) rs879254036
NM_000051.4(ATM):c.8988-1G>A rs730881386
NM_000051.4(ATM):c.8del (p.Leu3fs) rs879254052
NM_000051.4(ATM):c.900del (p.Gly301fs) rs1555067335
NM_000057.4(BLM):c.298_299del (p.Gln100fs) rs745807085
NM_000057.4(BLM):c.320dup (p.Leu107fs) rs781221411
NM_000057.4(BLM):c.3496C>T (p.Gln1166Ter) rs1596267627
NM_000059.4(BRCA2):c.1774del (p.Tyr592fs) rs1566224293
NM_000059.4(BRCA2):c.316+5G>A rs81002840
NM_000059.4(BRCA2):c.3914_3915del (p.Phe1305fs) rs397507698
NM_000059.4(BRCA2):c.452dup (p.Thr152fs) rs2072343917
NM_000059.4(BRCA2):c.475G>A (p.Val159Met) rs80358702
NM_000059.4(BRCA2):c.4961_4971del (p.Cys1654fs) rs2137512109
NM_000059.4(BRCA2):c.5818G>T (p.Glu1940Ter) rs1566233278
NM_000059.4(BRCA2):c.6681dup (p.Val2228fs) rs1555284790
NM_000059.4(BRCA2):c.681+1G>A rs398122565
NM_000059.4(BRCA2):c.7717_7718del (p.Leu2573fs) rs2137567005
NM_000059.4(BRCA2):c.7826G>T (p.Gly2609Val) rs80359009
NM_000059.4(BRCA2):c.7868A>G (p.His2623Arg) rs80359012
NM_000059.4(BRCA2):c.8331+2T>C rs398122602
NM_000059.4(BRCA2):c.8954-2A>G rs1135401928
NM_000059.4(BRCA2):c.9256+1G>C rs81002883
NM_000059.4(BRCA2):c.9502-2A>C rs81002868
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[3] (p.Ala4_Pro11dup) rs587780668
NM_000077.5(CDKN2A):c.212A>G (p.Asn71Ser) rs559848002
NM_000077.5(CDKN2A):c.266G>A (p.Gly89Asp) rs137854599
NM_000143.4(FH):c.703C>T (p.His235Tyr) rs863223968
NM_000179.3(MSH6):c.171del (p.Arg58fs) rs1553408306
NM_000179.3(MSH6):c.2300C>T (p.Thr767Ile) rs587781462
NM_000179.3(MSH6):c.3163dup (p.Ala1055fs) rs878853729
NM_000179.3(MSH6):c.3646+2del rs2104526796
NM_000179.3(MSH6):c.3815_3816insT (p.Glu1272fs) rs2104552191
NM_000249.4(MLH1):c.-27C>A rs587779001
NM_000249.4(MLH1):c.1409+1G>T rs267607825
NM_000249.4(MLH1):c.325del (p.His109fs) rs1553641273
NM_000249.4(MLH1):c.380+1G>C rs267607745
NM_000249.4(MLH1):c.589-1G>T rs587779027
NM_000251.3(MSH2):c.1077-1G>C rs267607944
NM_000251.3(MSH2):c.161_162insGCAGAACGTGGTCGTGG (p.Arg55fs) rs2103878331
NM_000251.3(MSH2):c.164_165insC (p.Glu56fs) rs2103878687
NM_000251.3(MSH2):c.170_171insCTACCTCGGCTCGATCCTCGCCGATCCGCGCCCA (p.Phe58fs) rs2103879195
NM_000251.3(MSH2):c.2635-24A>G rs1667575488
NM_000264.5(PTCH1):c.25_26insCGGTCCTGGGGCTCGGCGGCGTTACC (p.Glu9fs) rs2118910332
NM_000268.4(NF2):c.599+1G>A rs1555993352
NM_000314.8(PTEN):c.103dup (p.Met35fs) rs2132187278
NM_000321.3(RB1):c.1963dup (p.Tyr655fs) rs2138335800
NM_000465.4(BARD1):c.1811-2A>G rs1693044156
NM_000465.4(BARD1):c.1872del (p.Leu625fs) rs876659572
NM_000465.4(BARD1):c.2001+1G>C rs768490891
NM_000465.4(BARD1):c.2002-2A>T rs876658260
NM_000465.4(BARD1):c.2148_2149del (p.Ile717fs) rs786203811
NM_000465.4(BARD1):c.215+2T>C rs1559441760
NM_000465.4(BARD1):c.2300_2301del (p.Val767fs) rs750413473
NM_000465.4(BARD1):c.298C>T (p.Gln100Ter) rs786201912
NM_000465.4(BARD1):c.740del (p.Ser247fs) rs2106110712
NM_000465.4(BARD1):c.858dup (p.Glu287fs) rs1553622397
NM_000535.6(PMS2):c.2182_2184delinsG (p.Thr728Alafs) rs1554294508
NM_000535.7(PMS2):c.11_12insCCCGCTCACC (p.Glu5fs) rs2128866103
NM_000535.7(PMS2):c.12_13insC (p.Glu5fs) rs2128866045
NM_000535.7(PMS2):c.15_16insCTCTC (p.Ser6fs) rs2128865982
NM_000535.7(PMS2):c.2095G>C (p.Asp699His) rs587781317
NM_000535.7(PMS2):c.2445+1G>C rs876661113
NM_000535.7(PMS2):c.2T>G (p.Met1Arg) rs587780059
NM_000546.6(TP53):c.298C>T (p.Gln100Ter) rs1567555994
NM_000546.6(TP53):c.375+1G>C rs1567555445
NM_000546.6(TP53):c.587G>C (p.Arg196Pro) rs483352697
NM_000546.6(TP53):c.643A>G (p.Ser215Gly) rs886039484
NM_000551.4(VHL):c.123_126del (p.Glu41fs) rs2125124755
NM_000551.4(VHL):c.134_135insAGTTCCTCCGGGCCGGACTCTTCCGGGCC (p.Glu46fs) rs2125124781
NM_001042492.3(NF1):c.3198-1G>T rs1223905930
NM_001042492.3(NF1):c.3942G>A (p.Trp1314Ter) rs2067194816
NM_001042492.3(NF1):c.6820-1G>A rs1060500266
NM_001048174.2(MUTYH):c.1046del (p.Leu349fs) rs2149126191
NM_001048174.2(MUTYH):c.1341G>A (p.Trp447Ter) rs2149112121
NM_001048174.2(MUTYH):c.309G>A (p.Trp103Ter) rs587781295
NM_001048174.2(MUTYH):c.364dup (p.Thr122fs) rs2149164805
NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe) rs587780749
NM_001048174.2(MUTYH):c.775del (p.Ala259fs) rs761468459
NM_001048174.2(MUTYH):c.834C>G (p.Cys278Trp) rs730881834
NM_001370259.2(MEN1):c.1266del (p.Lys422fs) rs2136101566
NM_001754.5(RUNX1):c.259_260dup (p.Glu88fs) rs2146410280
NM_002382.5(MAX):c.296-1G>T rs1555340265
NM_002439.5(MSH3):c.1256C>G (p.Ser419Ter) rs578113271
NM_002439.5(MSH3):c.1625dup (p.Leu542fs) rs775863622
NM_002439.5(MSH3):c.1736G>A (p.Trp579Ter) rs2112868963
NM_002439.5(MSH3):c.2352del (p.Phe784fs) rs2112007724
NM_002439.5(MSH3):c.238-1G>A rs1749285930
NM_002439.5(MSH3):c.2760del (p.Tyr921fs) rs751326348
NM_002485.5(NBN):c.1255_1258del (p.Asn419fs) rs1238152597
NM_002485.5(NBN):c.1396dup (p.Arg466fs) rs1349928568
NM_002485.5(NBN):c.83_89del (p.Arg28fs) rs1554569106
NM_002485.5(NBN):c.872dup (p.Ser292fs) rs1563559078
NM_002528.7(NTHL1):c.211dup (p.Ala71fs) rs745671590
NM_002528.7(NTHL1):c.234dup (p.Trp79fs) rs2150946400
NM_002528.7(NTHL1):c.239del (p.Glu80fs) rs2150946310
NM_002528.7(NTHL1):c.241_242insT (p.Pro81fs) rs2150946263
NM_002528.7(NTHL1):c.247del (p.Asp83fs) rs2150946170
NM_002528.7(NTHL1):c.354+1G>A rs1377633383
NM_002878.4(RAD51D):c.481-2A>G rs2091605461
NM_002878.4(RAD51D):c.547C>T (p.Gln183Ter) rs587782695
NM_002878.4(RAD51D):c.576+1_576+2insC rs2142428761
NM_003002.4(SDHD):c.445_448dup (p.Cys150fs) rs2135277783
NM_003072.5(SMARCA4):c.3229C>T (p.Arg1077Ter) rs2146541571
NM_004168.4(SDHA):c.1468G>T (p.Glu490Ter) rs1554000360
NM_004168.4(SDHA):c.1794+1G>A rs876659595
NM_004168.4(SDHA):c.298_299del (p.Thr100fs) rs2126543272
NM_004168.4(SDHA):c.322_323del (p.Asn108fs) rs2126546657
NM_004168.4(SDHA):c.667del (p.Asp223fs) rs587782077
NM_004260.4(RECQL4):c.1131_1131+3del rs1060501353
NM_004260.4(RECQL4):c.1166_1167del (p.Cys389fs) rs34134064
NM_004260.4(RECQL4):c.3471_3472insG (p.Arg1158fs) rs2130651375
NM_004360.5(CDH1):c.1427del (p.Asp476fs) rs2152134893
NM_004360.5(CDH1):c.2430dup (p.Ile811fs) rs786203752
NM_004360.5(CDH1):c.377dup (p.Pro127fs) rs1060501215
NM_004360.5(CDH1):c.532-1G>C rs771085839
NM_004360.5(CDH1):c.566del (p.Phe189fs) rs2152130104
NM_004364.5(CEBPA):c.342_343insATGA (p.Pro115fs) rs2145262824
NM_004364.5(CEBPA):c.344_345del (p.Pro115fs) rs2145262808
NM_004364.5(CEBPA):c.356_359del (p.Val119fs) rs2145262693
NM_004655.4(AXIN2):c.1408dup (p.His470fs) rs2144463649
NM_004655.4(AXIN2):c.1907+1G>A rs2043930740
NM_007194.4(CHEK2):c.1008+2T>G rs1555915295
NM_007194.4(CHEK2):c.1462-2A>G rs587782575
NM_007194.4(CHEK2):c.1531del (p.Val511fs) rs2145748375
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del) rs587782008
NM_007194.4(CHEK2):c.593-1G>T rs786203229
NM_007194.4(CHEK2):c.846+2T>A rs1601777275
NM_007194.4(CHEK2):c.846+4_846+7del rs764884641
NM_007194.4(CHEK2):c.909-1G>C rs886039721
NM_007194.4(CHEK2):c.961G>T (p.Glu321Ter) rs1555915433
NM_007294.4(BRCA1):c.1095del (p.Asp366fs) rs2154476432
NM_007294.4(BRCA1):c.1399_1453dup (p.Ala485delinsGluGluGlyLysProProGlnLeuLysProCysAsnTer) rs2053936273
NM_007294.4(BRCA1):c.1499del (p.Asn500fs) rs397508874
NM_007294.4(BRCA1):c.3475del (p.Glu1158_Ile1159insTer) rs1555587638
NM_007294.4(BRCA1):c.3888_3889del (p.Ser1297fs) rs886038027
NM_007294.4(BRCA1):c.4116_4117del (p.Cys1372_Glu1373delinsTer) rs80357804
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly) rs80356862
NM_007294.4(BRCA1):c.5072C>G (p.Thr1691Arg) rs80357034
NM_007294.4(BRCA1):c.5152T>G (p.Trp1718Gly) rs1567769155
NM_007294.4(BRCA1):c.5207T>G (p.Val1736Gly) rs45553935
NM_007294.4(BRCA1):c.5310_5311del (p.Pro1771fs) rs587781825
NM_007294.4(BRCA1):c.5332G>A (p.Asp1778Asn) rs80357112
NM_007294.4(BRCA1):c.5453A>G (p.Asp1818Gly) rs80357477
NM_007294.4(BRCA1):c.65T>C (p.Leu22Ser) rs80357438
NM_015450.3(POT1):c.1781_1782del (p.Gly594fs) rs1562972380
NM_015450.3(POT1):c.469C>T (p.Gln157Ter) rs2116541623
NM_024426.6(WT1):c.783_784+1del rs2133074888
NM_024675.4(PALB2):c.1138_1139del (p.Ser380_Leu381insTer) rs1567221521
NM_024675.4(PALB2):c.1156del (p.Thr386fs) rs1597096949
NM_024675.4(PALB2):c.1317dup (p.Phe440fs) rs515726067
NM_024675.4(PALB2):c.1706_1707del (p.Lys569fs) rs1060502759
NM_024675.4(PALB2):c.1784del (p.Asp595fs) rs2142389365
NM_024675.4(PALB2):c.3324C>G (p.Tyr1108Ter) rs1218512317
NM_024675.4(PALB2):c.3350+4A>G rs180177136
NM_024675.4(PALB2):c.390_391insT (p.Arg131Ter) rs2142444537
NM_024675.4(PALB2):c.921del (p.Ala308fs) rs202151522
NM_032043.3(BRIP1):c.1403G>A (p.Trp468Ter) rs2145242325
NM_032043.3(BRIP1):c.2329del (p.Arg777fs) rs2144677021
NM_032043.3(BRIP1):c.2383G>T (p.Glu795Ter) rs2144384208
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs) rs771028677
NM_032043.3(BRIP1):c.477_481del (p.Lys159fs) rs1555616143
NM_032043.3(BRIP1):c.55dup (p.Tyr19fs) rs1567878148
NM_058195.4(CDKN2A):c.58del (p.Arg19_Val20insTer) rs1563902931
NM_058216.3(RAD51C):c.1026+5_1026+7del rs587781410
NM_058216.3(RAD51C):c.904+1G>T rs1555602159
NM_144997.7(FLCN):c.1584del (p.Glu530fs) rs1131690827
NM_177438.3(DICER1):c.1642C>T (p.Gln548Ter) rs2140124358

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