ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario and "likely benign" from any submitter

Minimum review status of the submission from CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario: Collection method of the submission from CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 345
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HGVS dbSNP gnomAD frequency
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro) rs61735272 0.00126
NM_001943.5(DSG2):c.221A>G (p.His74Arg) rs201855245 0.00104
NM_003239.5(TGFB3):c.164G>A (p.Ser55Asn) rs143229915 0.00100
NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala) rs1800061 0.00096
NM_053025.4(MYLK):c.3706A>G (p.Met1236Val) rs113124819 0.00092
NM_000051.4(ATM):c.1073A>G (p.Asn358Ser) rs149636614 0.00079
NM_007194.4(CHEK2):c.320-5T>A rs121908700 0.00070
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln) rs149514924 0.00063
NM_001005242.3(PKP2):c.1955A>G (p.Asn652Ser) rs140852019 0.00060
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916 0.00060
NM_017617.5(NOTCH1):c.7606G>A (p.Val2536Ile) rs111627256 0.00058
NM_017617.5(NOTCH1):c.6291G>A (p.Pro2097=) rs201987555 0.00057
NM_016203.4(PRKAG2):c.250C>T (p.Arg84Trp) rs61746358 0.00056
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg) rs201278114 0.00055
NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu) rs146664754 0.00055
NM_001943.5(DSG2):c.44T>A (p.Leu15Gln) rs372174546 0.00054
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941 0.00053
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe) rs200078204 0.00051
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927 0.00051
NM_000138.5(FBN1):c.7346A>G (p.Asn2449Ser) rs146166400 0.00049
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962 0.00048
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217 0.00046
NM_001035.3(RYR2):c.6337G>A (p.Val2113Met) rs186906598 0.00045
NM_024422.6(DSC2):c.2497C>T (p.Arg833Cys) rs142410803 0.00045
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys) rs199601548 0.00041
NM_001105206.3(LAMA4):c.3054G>T (p.Leu1018Phe) rs183262122 0.00040
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg) rs55801750 0.00038
NM_002878.4(RAD51D):c.26G>C (p.Cys9Ser) rs140825795 0.00037
NM_007194.4(CHEK2):c.*18C>T rs17884403 0.00037
NM_002474.3(MYH11):c.5470G>A (p.Ala1824Thr) rs147710374 0.00036
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883 0.00034
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys) rs2229022 0.00032
NM_000179.3(MSH6):c.3488A>T (p.Glu1163Val) rs63750252 0.00032
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) rs63750124 0.00031
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His) rs201666889 0.00029
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys) rs375289386 0.00029
NM_001035.3(RYR2):c.649A>G (p.Ile217Val) rs200642525 0.00029
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser) rs146531614 0.00028
NM_000455.5(STK11):c.*8C>T rs587782259 0.00027
NM_032043.3(BRIP1):c.3559G>A (p.Ala1187Thr) rs367610893 0.00027
NM_000256.3(MYBPC3):c.1721G>A (p.Arg574Gln) rs397515922 0.00026
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser) rs200513014 0.00026
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp) rs150624408 0.00026
NM_001035.3(RYR2):c.2574G>A (p.Thr858=) rs367992907 0.00025
NM_002878.4(RAD51D):c.413A>G (p.Asn138Ser) rs201676898 0.00025
NM_014000.3(VCL):c.1294C>G (p.Leu432Val) rs144146254 0.00025
NM_024422.6(DSC2):c.1729A>G (p.Ile577Val) rs201845641 0.00025
NM_000465.4(BARD1):c.668A>G (p.Glu223Gly) rs145009419 0.00024
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098 0.00024
NM_000465.4(BARD1):c.1347A>G (p.Gln449=) rs373257776 0.00021
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr) rs63751132 0.00021
NM_004415.4(DSP):c.2422C>T (p.Arg808Cys) rs150339369 0.00021
NM_007294.4(BRCA1):c.2155A>G (p.Lys719Glu) rs80357147 0.00021
NM_016203.4(PRKAG2):c.521C>T (p.Thr174Met) rs148056866 0.00021
NM_024675.4(PALB2):c.298C>T (p.Leu100Phe) rs61756147 0.00021
NM_000059.4(BRCA2):c.6803G>A (p.Arg2268Lys) rs80358906 0.00020
NM_000256.3(MYBPC3):c.1813G>A (p.Asp605Asn) rs376736293 0.00020
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu) rs147187700 0.00019
NM_000059.4(BRCA2):c.8905G>A (p.Val2969Met) rs59004709 0.00019
NM_000251.3(MSH2):c.138C>G (p.His46Gln) rs33946261 0.00019
NM_001035.3(RYR2):c.3356G>A (p.Arg1119His) rs201312753 0.00019
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548 0.00019
NM_014000.3(VCL):c.590C>T (p.Thr197Ile) rs189242810 0.00019
NM_000059.4(BRCA2):c.7712A>G (p.Glu2571Gly) rs55689095 0.00018
NM_000138.5(FBN1):c.3590-8T>C rs140600 0.00018
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr) rs63749910 0.00018
NM_000051.4(ATM):c.2522A>C (p.Asp841Ala) rs587781812 0.00017
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser) rs370559102 0.00017
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His) rs202139499 0.00017
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046 0.00017
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp) rs201199629 0.00016
NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys) rs201309310 0.00016
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala) rs41295280 0.00016
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr) rs201343342 0.00016
NM_002474.3(MYH11):c.3291C>T (p.Ala1097=) rs147605116 0.00016
NM_005902.4(SMAD3):c.636G>A (p.Met212Ile) rs202094530 0.00016
NM_000059.4(BRCA2):c.6560C>T (p.Pro2187Leu) rs56019712 0.00015
NM_000138.5(FBN1):c.863-3C>T rs955955089 0.00015
NM_004360.5(CDH1):c.2329G>A (p.Asp777Asn) rs372989292 0.00015
NM_016203.4(PRKAG2):c.698C>G (p.Ala233Gly) rs201240745 0.00015
NM_000051.4(ATM):c.4066A>G (p.Asn1356Asp) rs147600485 0.00014
NM_000051.4(ATM):c.7618G>A (p.Val2540Ile) rs35203200 0.00014
NM_000059.4(BRCA2):c.742G>A (p.Ala248Thr) rs55854959 0.00014
NM_000138.5(FBN1):c.5917+3A>G rs202158568 0.00014
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu) rs61748083 0.00014
NM_000257.4(MYH7):c.4170-8C>A rs199632504 0.00014
NM_000546.6(TP53):c.869G>A (p.Arg290His) rs55819519 0.00014
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg) rs200450676 0.00014
NM_000090.4(COL3A1):c.3299G>A (p.Arg1100His) rs370069953 0.00013
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr) rs45478699 0.00013
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu) rs374704824 0.00013
NM_001035.3(RYR2):c.3153C>T (p.Arg1051=) rs397516524 0.00013
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp) rs199708878 0.00013
NM_000535.7(PMS2):c.2445G>A (p.Ser815=) rs753199796 0.00012
NM_004360.5(CDH1):c.1409C>T (p.Thr470Ile) rs370864592 0.00012
NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu) rs201963507 0.00011
NM_000090.4(COL3A1):c.3818A>G (p.Lys1273Arg) rs144614075 0.00011
NM_000251.3(MSH2):c.1461C>G (p.Asp487Glu) rs35107951 0.00011
NM_000251.3(MSH2):c.557A>G (p.Asn186Ser) rs151129360 0.00011
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587 0.00011
NM_000455.5(STK11):c.1038C>T (p.Gly346=) rs767565606 0.00011
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly) rs116788608 0.00011
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu) rs28997573 0.00011
NM_053025.4(MYLK):c.4620-4G>A rs371533014 0.00011
NM_002878.4(RAD51D):c.137C>G (p.Ser46Cys) rs587780102 0.00010
NM_024675.4(PALB2):c.11C>T (p.Pro4Leu) rs45619737 0.00010
NM_053025.4(MYLK):c.1133G>A (p.Arg378His) rs56378658 0.00010
NM_000138.5(FBN1):c.1345G>A (p.Val449Ile) rs139058991 0.00009
NM_000257.4(MYH7):c.2183C>T (p.Ala728Val) rs121913644 0.00009
NM_002474.3(MYH11):c.5226G>C (p.Glu1742Asp) rs144421849 0.00009
NM_024675.4(PALB2):c.1544A>G (p.Lys515Arg) rs515726072 0.00009
NM_058216.3(RAD51C):c.506T>C (p.Val169Ala) rs587780256 0.00009
NM_000251.3(MSH2):c.1662-10C>T rs752606387 0.00008
NM_000251.3(MSH2):c.4G>A (p.Ala2Thr) rs63750466 0.00008
NM_001035.3(RYR2):c.9820A>G (p.Asn3274Asp) rs751551400 0.00008
NM_004360.5(CDH1):c.164T>G (p.Val55Gly) rs587778174 0.00008
NM_024675.4(PALB2):c.2509G>A (p.Glu837Lys) rs587778587 0.00008
NM_000051.4(ATM):c.2021A>G (p.His674Arg) rs201762714 0.00007
NM_000051.4(ATM):c.749G>A (p.Arg250Gln) rs56123940 0.00007
NM_000179.3(MSH6):c.2384T>C (p.Ile795Thr) rs202127474 0.00007
NM_000249.4(MLH1):c.277A>G (p.Ser93Gly) rs41295282 0.00007
NM_000251.3(MSH2):c.2732T>G (p.Leu911Arg) rs41295182 0.00007
NM_000256.3(MYBPC3):c.3107G>A (p.Arg1036His) rs374255381 0.00007
NM_000535.7(PMS2):c.2559C>G (p.Ile853Met) rs371673459 0.00007
NM_007294.4(BRCA1):c.1865C>T (p.Ala622Val) rs56039126 0.00007
NM_017617.5(NOTCH1):c.6583G>A (p.Gly2195Ser) rs376422513 0.00007
NM_000051.4(ATM):c.1010G>A (p.Arg337His) rs202160435 0.00006
NM_000051.4(ATM):c.610G>A (p.Gly204Arg) rs147915571 0.00006
NM_000059.4(BRCA2):c.1021T>C (p.Cys341Arg) rs55833327 0.00006
NM_000059.4(BRCA2):c.1662T>G (p.Cys554Trp) rs80358451 0.00006
NM_000059.4(BRCA2):c.3073A>G (p.Lys1025Glu) rs80358550 0.00006
NM_000059.4(BRCA2):c.4828G>A (p.Val1610Met) rs80358705 0.00006
NM_000059.4(BRCA2):c.6215C>G (p.Ser2072Cys) rs80358862 0.00006
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys) rs28897705 0.00006
NM_000090.4(COL3A1):c.3390C>T (p.Ile1130=) rs148918486 0.00006
NM_000138.5(FBN1):c.7516G>A (p.Gly2506Ser) rs756295016 0.00006
NM_000179.3(MSH6):c.3283C>T (p.Arg1095Cys) rs376243329 0.00006
NM_000257.4(MYH7):c.1000-7C>T rs200129563 0.00006
NM_000535.7(PMS2):c.353+6A>G rs376449640 0.00006
NM_000546.6(TP53):c.920-17C>A rs911934766 0.00006
NM_001035.3(RYR2):c.10725+4A>T rs116444428 0.00006
NM_002474.3(MYH11):c.5666C>T (p.Ala1889Val) rs369950711 0.00006
NM_002878.4(RAD51D):c.145-4G>A rs201361465 0.00006
NM_003238.6(TGFB2):c.1140C>T (p.Cys380=) rs201129153 0.00006
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) rs587780180 0.00006
NM_016203.4(PRKAG2):c.130G>A (p.Ala44Thr) rs144857453 0.00006
NM_017617.5(NOTCH1):c.339C>T (p.Asn113=) rs369947231 0.00006
NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys) rs200620434 0.00006
NM_053025.4(MYLK):c.3184G>A (p.Ala1062Thr) rs11558550 0.00006
NM_000059.4(BRCA2):c.8090G>A (p.Ser2697Asn) rs80359051 0.00005
NM_000179.3(MSH6):c.2173A>G (p.Ile725Val) rs148898662 0.00005
NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys) rs63750760 0.00005
NM_000256.3(MYBPC3):c.3190+4C>T rs571457875 0.00005
NM_000256.3(MYBPC3):c.534G>T (p.Val178=) rs759249105 0.00005
NM_000455.5(STK11):c.465-5C>T rs567202367 0.00005
NM_002878.4(RAD51D):c.346-10C>T rs779972784 0.00005
NM_005902.4(SMAD3):c.401-7C>T rs774268232 0.00005
NM_000051.4(ATM):c.1516G>T (p.Gly506Cys) rs587779816 0.00004
NM_000059.4(BRCA2):c.280C>T (p.Pro94Ser) rs80358531 0.00004
NM_000059.4(BRCA2):c.4094G>A (p.Cys1365Tyr) rs80358657 0.00004
NM_000059.4(BRCA2):c.8918G>A (p.Arg2973His) rs80359143 0.00004
NM_000179.3(MSH6):c.107C>T (p.Ala36Val) rs61756469 0.00004
NM_000179.3(MSH6):c.1937A>G (p.Lys646Arg) rs201096652 0.00004
NM_000251.3(MSH2):c.2211-6C>A rs267608003 0.00004
NM_000546.6(TP53):c.1096T>G (p.Ser366Ala) rs17881470 0.00004
NM_001018005.2(TPM1):c.851+7G>A rs765721221 0.00004
NM_001035.3(RYR2):c.4875G>A (p.Leu1625=) rs369323506 0.00004
NM_001276345.2(TNNT2):c.720-7C>T rs376303087 0.00004
NM_001943.5(DSG2):c.1920C>T (p.Gly640=) rs775642244 0.00004
NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys) rs587781813 0.00004
NM_024422.6(DSC2):c.669A>G (p.Pro223=) rs923697621 0.00004
NM_024675.4(PALB2):c.2289G>C (p.Leu763Phe) rs373478248 0.00004
NM_053025.4(MYLK):c.5001C>T (p.Asn1667=) rs375038682 0.00004
NM_053025.4(MYLK):c.998C>T (p.Pro333Leu) rs568039936 0.00004
NM_170707.4(LMNA):c.1931G>A (p.Arg644His) rs368386019 0.00004
NM_000051.4(ATM):c.2396C>T (p.Ala799Val) rs199954262 0.00003
NM_000051.4(ATM):c.8246A>T (p.Lys2749Ile) rs779145081 0.00003
NM_000059.4(BRCA2):c.3910A>G (p.Thr1304Ala) rs28897723 0.00003
NM_000059.4(BRCA2):c.9116C>G (p.Pro3039Arg) rs80359167 0.00003
NM_000138.5(FBN1):c.378A>G (p.Gly126=) rs149611106 0.00003
NM_000179.3(MSH6):c.-2G>T rs374748889 0.00003
NM_000256.3(MYBPC3):c.3191-7C>T rs373012629 0.00003
NM_000256.3(MYBPC3):c.927-10C>T rs201078659 0.00003
NM_000363.5(TNNI3):c.-8G>A rs773513015 0.00003
NM_000465.4(BARD1):c.568G>A (p.Asp190Asn) rs369561166 0.00003
NM_001035.3(RYR2):c.8209-4T>C rs371966353 0.00003
NM_001105206.3(LAMA4):c.572G>A (p.Gly191Glu) rs782010849 0.00003
NM_003242.6(TGFBR2):c.94+16278G>C rs557449314 0.00003
NM_007294.4(BRCA1):c.1573G>A (p.Val525Ile) rs80357273 0.00003
NM_007294.4(BRCA1):c.2447A>G (p.His816Arg) rs80357108 0.00003
NM_007294.4(BRCA1):c.594-2A>C rs80358033 0.00003
NM_007294.4(BRCA1):c.641A>G (p.Asp214Gly) rs55680408 0.00003
NM_007294.4(BRCA1):c.81-6T>C rs80358179 0.00003
NM_016203.4(PRKAG2):c.*2C>T rs199559205 0.00003
NM_016203.4(PRKAG2):c.1053G>A (p.Glu351=) rs767902787 0.00003
NM_016203.4(PRKAG2):c.1234-6G>A rs780341115 0.00003
NM_053025.4(MYLK):c.1509A>G (p.Gln503=) rs948829374 0.00003
NM_000051.4(ATM):c.2159G>A (p.Arg720His) rs55830714 0.00002
NM_000059.4(BRCA2):c.5813G>C (p.Gly1938Ala) rs41293499 0.00002
NM_000059.4(BRCA2):c.6738A>G (p.Pro2246=) rs760272304 0.00002
NM_000059.4(BRCA2):c.7534C>T (p.Leu2512Phe) rs80358980 0.00002
NM_000059.4(BRCA2):c.800G>A (p.Gly267Glu) rs80359036 0.00002
NM_000059.4(BRCA2):c.8386C>T (p.Pro2796Ser) rs146120136 0.00002
NM_000059.4(BRCA2):c.8573A>G (p.Gln2858Arg) rs80359114 0.00002
NM_000090.4(COL3A1):c.2287C>T (p.Pro763Ser) rs771671892 0.00002
NM_000138.5(FBN1):c.1961-7T>C rs878853675 0.00002
NM_000179.3(MSH6):c.3851C>T (p.Thr1284Met) rs63750836 0.00002
NM_000251.3(MSH2):c.943-6T>C rs768644134 0.00002
NM_000256.3(MYBPC3):c.1351+4G>A rs777487971 0.00002
NM_000256.3(MYBPC3):c.2877G>A (p.Thr959=) rs727503181 0.00002
NM_000257.4(MYH7):c.3854-5C>T rs752385694 0.00002
NM_000257.4(MYH7):c.4557C>T (p.Ser1519=) rs150552664 0.00002
NM_000257.4(MYH7):c.733-3C>T rs765068619 0.00002
NM_000363.5(TNNI3):c.151-6C>G rs377258542 0.00002
NM_000432.4(MYL2):c.355G>A (p.Val119Ile) rs730880940 0.00002
NM_000455.5(STK11):c.1108+3G>A rs755746417 0.00002
NM_000465.4(BARD1):c.159T>C (p.Cys53=) rs201708813 0.00002
NM_000546.6(TP53):c.665C>T (p.Pro222Leu) rs146340390 0.00002
NM_001005242.3(PKP2):c.1887C>T (p.Gly629=) rs368325383 0.00002
NM_002474.3(MYH11):c.5772C>G (p.Leu1924=) rs774511118 0.00002
NM_003239.5(TGFB3):c.324C>T (p.Phe108=) rs779502039 0.00002
NM_004360.5(CDH1):c.388-4T>C rs750722169 0.00002
NM_004415.4(DSP):c.3282G>A (p.Lys1094=) rs2491080 0.00002
NM_016203.4(PRKAG2):c.138G>A (p.Pro46=) rs767613486 0.00002
NM_016203.4(PRKAG2):c.685-5C>A rs779931367 0.00002
NM_024675.4(PALB2):c.149A>C (p.Lys50Thr) rs763598472 0.00002
NM_032043.3(BRIP1):c.778A>G (p.Thr260Ala) rs138743097 0.00002
NM_000051.4(ATM):c.4910-16A>T rs866500582 0.00001
NM_000051.4(ATM):c.5063T>C (p.Ile1688Thr) rs199836342 0.00001
NM_000051.4(ATM):c.6452+5T>A rs533830556 0.00001
NM_000059.4(BRCA2):c.1144A>C (p.Lys382Gln) rs371454630 0.00001
NM_000059.4(BRCA2):c.1466C>G (p.Ser489Cys) rs587782535 0.00001
NM_000059.4(BRCA2):c.1769T>G (p.Phe590Cys) rs80358459 0.00001
NM_000059.4(BRCA2):c.4662T>G (p.Ser1554Arg) rs276174845 0.00001
NM_000059.4(BRCA2):c.5191C>A (p.His1731Asn) rs80358745 0.00001
NM_000059.4(BRCA2):c.5723T>C (p.Leu1908Pro) rs80358797 0.00001
NM_000059.4(BRCA2):c.6613G>A (p.Val2205Met) rs80358889 0.00001
NM_000059.4(BRCA2):c.6953G>A (p.Arg2318Gln) rs80358921 0.00001
NM_000059.4(BRCA2):c.7436-4A>G rs81002904 0.00001
NM_000059.4(BRCA2):c.7484T>C (p.Ile2495Thr) rs80358974 0.00001
NM_000059.4(BRCA2):c.8117A>G (p.Asn2706Ser) rs80359055 0.00001
NM_000059.4(BRCA2):c.811G>A (p.Gly271Arg) rs786204274 0.00001
NM_000059.4(BRCA2):c.8417C>T (p.Ser2806Leu) rs587782785 0.00001
NM_000059.4(BRCA2):c.9155G>A (p.Arg3052Gln) rs80359171 0.00001
NM_000090.4(COL3A1):c.1819C>G (p.Pro607Ala) rs376525602 0.00001
NM_000090.4(COL3A1):c.3526-10C>T rs376171095 0.00001
NM_000179.3(MSH6):c.161G>C (p.Gly54Ala) rs63751098 0.00001
NM_000249.4(MLH1):c.1460G>A (p.Arg487Gln) rs587778917 0.00001
NM_000251.3(MSH2):c.1378A>G (p.Met460Val) rs575905950 0.00001
NM_000251.3(MSH2):c.646-3T>C rs267607930 0.00001
NM_000256.3(MYBPC3):c.1038C>T (p.Arg346=) rs758016271 0.00001
NM_000256.3(MYBPC3):c.148A>G (p.Ser50Gly) rs373164247 0.00001
NM_000256.3(MYBPC3):c.2034T>C (p.Ala678=) rs757832991 0.00001
NM_000256.3(MYBPC3):c.3379C>T (p.Pro1127Ser) rs1488618086 0.00001
NM_000256.3(MYBPC3):c.651C>T (p.Ser217=) rs1199611247 0.00001
NM_000257.4(MYH7):c.3147G>A (p.Glu1049=) rs1216521596 0.00001
NM_000257.4(MYH7):c.3975G>A (p.Ala1325=) rs1424491117 0.00001
NM_000257.4(MYH7):c.4992C>T (p.Asn1664=) rs763538103 0.00001
NM_000257.4(MYH7):c.5178G>A (p.Gln1726=) rs747252861 0.00001
NM_000314.8(PTEN):c.210-9T>C rs751744545 0.00001
NM_000455.5(STK11):c.-1C>T rs759284466 0.00001
NM_000455.5(STK11):c.632G>A (p.Arg211Gln) rs730881982 0.00001
NM_000535.7(PMS2):c.354C>T (p.Ser118=) rs760615315 0.00001
NM_001005242.3(PKP2):c.1379-5T>C rs189036647 0.00001
NM_001018005.2(TPM1):c.774C>T (p.Asp258=) rs762282433 0.00001
NM_001035.3(RYR2):c.13326C>T (p.Ala4442=) rs768161152 0.00001
NM_001035.3(RYR2):c.2719-4T>A rs397516523 0.00001
NM_001035.3(RYR2):c.463+6C>T rs397516533 0.00001
NM_001035.3(RYR2):c.6346A>G (p.Thr2116Ala) rs780707255 0.00001
NM_001035.3(RYR2):c.7443A>G (p.Gln2481=) rs759314800 0.00001
NM_001035.3(RYR2):c.8736G>A (p.Leu2912=) rs762521873 0.00001
NM_001035.3(RYR2):c.8896-9T>C rs773401697 0.00001
NM_001276345.2(TNNT2):c.200-4C>G rs397516448 0.00001
NM_001943.5(DSG2):c.3224C>T (p.Thr1075Met) rs943749481 0.00001
NM_005902.4(SMAD3):c.1010-10T>C rs1179340088 0.00001
NM_005902.4(SMAD3):c.798G>A (p.Ser266=) rs761391442 0.00001
NM_007294.4(BRCA1):c.1396C>T (p.Arg466Trp) rs80356964 0.00001
NM_007294.4(BRCA1):c.154C>T (p.Leu52Phe) rs80357084 0.00001
NM_007294.4(BRCA1):c.230C>T (p.Thr77Met) rs80357209 0.00001
NM_007294.4(BRCA1):c.2758G>A (p.Val920Ile) rs80357361 0.00001
NM_007294.4(BRCA1):c.3711A>G (p.Ile1237Met) rs80357388 0.00001
NM_007294.4(BRCA1):c.4115G>A (p.Cys1372Tyr) rs55848034 0.00001
NM_007294.4(BRCA1):c.4520G>C (p.Arg1507Thr) rs80357470 0.00001
NM_007294.4(BRCA1):c.5022C>T (p.Ile1674=) rs786203868 0.00001
NM_007294.4(BRCA1):c.5506G>A (p.Glu1836Lys) rs80356942 0.00001
NM_017668.3(NDE1):c.947+11990G>A rs745371874 0.00001
NM_017668.3(NDE1):c.948-3872G>A rs375652279 0.00001
NM_024422.6(DSC2):c.474+5C>T rs397517400 0.00001
NM_053025.4(MYLK):c.1630C>T (p.Arg544Trp) rs552998417 0.00001
NM_170707.4(LMNA):c.1699-8C>G rs727503137 0.00001
NM_000051.4(ATM):c.3154-4G>A rs199543313
NM_000051.4(ATM):c.332-7G>T rs1591474291
NM_000051.4(ATM):c.8851-10C>T rs1057521676
NM_000059.4(BRCA2):c.-39-12_-39-10del rs276174798
NM_000059.4(BRCA2):c.162CAA[1] (p.Asn56del) rs11571587
NM_000059.4(BRCA2):c.2803G>C (p.Asp935His) rs28897716
NM_000059.4(BRCA2):c.2999T>C (p.Ile1000Thr) rs374769365
NM_000059.4(BRCA2):c.3858_3860del (p.Lys1286del) rs80359406
NM_000059.4(BRCA2):c.3965A>C (p.Asn1322Thr) rs80358646
NM_000059.4(BRCA2):c.4143AGA[1] (p.Glu1382del) rs80359432
NM_000059.4(BRCA2):c.5644T>C (p.Ser1882Pro) rs730881538
NM_000059.4(BRCA2):c.6131G>C (p.Gly2044Ala) rs56191579
NM_000059.4(BRCA2):c.68-6A>T rs1555280325
NM_000059.4(BRCA2):c.7313A>G (p.Asp2438Gly) rs80358957
NM_000059.4(BRCA2):c.7436-10T>C rs398122582
NM_000059.4(BRCA2):c.9104A>C (p.Tyr3035Ser) rs80359165
NM_000059.4(BRCA2):c.9257G>C (p.Gly3086Ala) rs574271678
NM_000090.4(COL3A1):c.3117T>C (p.Ser1039=) rs1559061716
NM_000138.5(FBN1):c.1158C>G (p.Asn386Lys) rs368737502
NM_000179.3(MSH6):c.3259C>G (p.Pro1087Ala) rs63750998
NM_000179.3(MSH6):c.3260C>G (p.Pro1087Arg) rs63750753
NM_000179.3(MSH6):c.3438+8dup rs878853734
NM_000179.3(MSH6):c.866_867delinsAA (p.Gly289Glu) rs267608079
NM_000249.4(MLH1):c.589-9_589-6del rs587779026
NM_000249.4(MLH1):c.91_92delinsTG (p.Ala31Cys) rs63749994
NM_000256.3(MYBPC3):c.1827C>G (p.Ala609=) rs535853707
NM_000256.3(MYBPC3):c.3229G>A (p.Ala1077Thr) rs397516009
NM_000256.3(MYBPC3):c.3628-41_3628-17del rs36212066
NM_000256.3(MYBPC3):c.362C>T (p.Pro121Leu) rs551888783
NM_000314.8(PTEN):c.801+9T>C rs1060503839
NM_000455.5(STK11):c.465-4G>A rs587780009
NM_000535.7(PMS2):c.1688_1689delinsAG (p.Arg563Gln) rs587780725
NM_000535.7(PMS2):c.1733G>A (p.Arg578His) rs63750770
NM_001035.3(RYR2):c.14757-7_14757-6delinsAT rs727504630
NM_001040113.2(MYH11):c.5819dup (p.Gln1941fs) rs747392139
NM_001276345.2(TNNT2):c.610-10C>T rs375547142
NM_002474.3(MYH11):c.2653-6G>A rs200637980
NM_002474.3(MYH11):c.3651+6_3651+11del rs371843272
NM_004415.4(DSP):c.1266+6G>A rs73375345
NM_004415.4(DSP):c.8508_8517delinsGTCCCGCAGT (p.Gly2836_Ser2839=) rs1561706189
NM_004612.4(TGFBR1):c.52GCG[11] (p.Ala25_Ala26dup) rs11466445
NM_005159.5(ACTC1):c.1038C>T (p.Ser346=) rs748062476
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys) rs587782527
NM_007294.4(BRCA1):c.2668G>A (p.Gly890Arg) rs80357200
NM_007294.4(BRCA1):c.4485-8C>A rs397507234
NM_007294.4(BRCA1):c.5306A>G (p.Tyr1769Cys) rs397509257
NM_007294.4(BRCA1):c.5406+9T>C rs80358040
NM_007294.4(BRCA1):c.547+14del rs273902771
NM_017617.5(NOTCH1):c.17_18delinsTT (p.Ala6Val) rs878855023
NM_017617.5(NOTCH1):c.4049G>T (p.Arg1350Leu) rs150343794
NM_024675.4(PALB2):c.3202-8G>T rs367979106
NM_032043.3(BRIP1):c.1795-12_1795-10del rs1475317357
NM_053025.4(MYLK):c.1048G>A (p.Ala350Thr) rs532659627
NM_170707.4(LMNA):c.1749G>A (p.Ser583=) rs970494454
NM_170707.4(LMNA):c.897C>T (p.Ile299=) rs762718963

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