ClinVar Miner

List of variants reported as uncertain significance for Fanconi anemia by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 570
Download table as spreadsheet
HGVS dbSNP
NG_008218.2:g.22853T>C rs777372106
NG_008218.2:g.23025C>G rs144346886
NG_008218.2:g.23094G>A rs758880377
NG_008218.2:g.23108A>G rs552236933
NG_008218.2:g.23167G>A rs886051517
NM_000059.3(BRCA2):c.*292A>C rs886050112
NM_000059.3(BRCA2):c.*345A>G rs886050113
NM_000059.3(BRCA2):c.*360dupC rs886050114
NM_000059.3(BRCA2):c.*399T>C rs886050115
NM_000059.3(BRCA2):c.*416G>T rs886050116
NM_000059.3(BRCA2):c.*50A>G rs761312704
NM_000059.3(BRCA2):c.*545T>C rs536333595
NM_000059.3(BRCA2):c.*675C>A rs886050117
NM_000059.3(BRCA2):c.*696G>A rs886050118
NM_000059.3(BRCA2):c.-210A>G rs886050111
NM_000059.3(BRCA2):c.2526A>G (p.Val842=) rs770778164
NM_000059.3(BRCA2):c.267G>A (p.Pro89=) rs587780648
NM_000059.3(BRCA2):c.2987T>G (p.Leu996Arg) rs80358545
NM_000059.3(BRCA2):c.316+13A>G rs773097109
NM_000059.3(BRCA2):c.323A>G (p.Asn108Ser) rs80358568
NM_000059.3(BRCA2):c.3415A>C (p.Lys1139Gln) rs747903103
NM_000059.3(BRCA2):c.3495T>C (p.His1165=) rs776655838
NM_000059.3(BRCA2):c.3497T>A (p.Val1166Asp) rs762886975
NM_000059.3(BRCA2):c.5225A>T (p.Asn1742Ile) rs756463217
NM_000059.3(BRCA2):c.5268A>G (p.Val1756=) rs199879914
NM_000059.3(BRCA2):c.5319G>A (p.Glu1773=) rs376257217
NM_000059.3(BRCA2):c.561G>A (p.Glu187=) rs754678843
NM_000059.3(BRCA2):c.6237G>A (p.Val2079=) rs864622516
NM_000059.3(BRCA2):c.7435+10G>A rs81002793
NM_000059.3(BRCA2):c.7976+12G>A rs81002827
NM_000059.3(BRCA2):c.8530G>A (p.Glu2844Lys) rs755783122
NM_000059.3(BRCA2):c.8825C>T (p.Ala2942Val) rs373227180
NM_000059.3(BRCA2):c.9032T>C (p.Leu3011Pro) rs80359155
NM_000059.3(BRCA2):c.909T>G (p.Ser303=) rs757430441
NM_000059.3(BRCA2):c.963A>G (p.Gln321=) rs276174927
NM_000135.2(FANCA):c.*1012A>G rs886052477
NM_000135.2(FANCA):c.*146C>T rs556325258
NM_000135.2(FANCA):c.*166G>A rs886052479
NM_000135.2(FANCA):c.*317G>A rs201817705
NM_000135.2(FANCA):c.*447T>C rs771942409
NM_000135.2(FANCA):c.*521C>T rs144644592
NM_000135.2(FANCA):c.*654C>T rs17227438
NM_000135.2(FANCA):c.*819T>C rs186050933
NM_000135.2(FANCA):c.*843C>T rs201316239
NM_000135.2(FANCA):c.*851G>A rs886052478
NM_000135.2(FANCA):c.*937A>G rs55794507
NM_000135.2(FANCA):c.-18G>A rs886038245
NM_000135.2(FANCA):c.-28C>G rs886052490
NM_000135.2(FANCA):c.1007-7C>G rs111271660
NM_000135.2(FANCA):c.1209G>A (p.Ala403=) rs773318145
NM_000135.2(FANCA):c.1328C>G (p.Ser443Cys) rs367733447
NM_000135.2(FANCA):c.1340C>T (p.Ser447Leu) rs149551759
NM_000135.2(FANCA):c.1359+10C>T rs34159559
NM_000135.2(FANCA):c.1471-12A>G rs9282684
NM_000135.2(FANCA):c.1518C>T (p.Leu506=) rs781524409
NM_000135.2(FANCA):c.1567-11C>A rs34353618
NM_000135.2(FANCA):c.157A>C (p.Ser53Arg) rs61757383
NM_000135.2(FANCA):c.1675G>A (p.Glu559Lys) rs201323171
NM_000135.2(FANCA):c.1737C>T (p.Tyr579=) rs529199293
NM_000135.2(FANCA):c.1777-15C>G rs371919426
NM_000135.2(FANCA):c.189+12C>G rs753101174
NM_000135.2(FANCA):c.1901-3C>A rs17226526
NM_000135.2(FANCA):c.1901-9T>G rs886052486
NM_000135.2(FANCA):c.1928C>G (p.Pro643Arg) rs34592408
NM_000135.2(FANCA):c.1990A>G (p.Met664Val) rs748579719
NM_000135.2(FANCA):c.2203A>G (p.Ser735Gly) rs886052485
NM_000135.2(FANCA):c.2236G>T (p.Ala746Ser) rs575108446
NM_000135.2(FANCA):c.2316+9C>T rs776301232
NM_000135.2(FANCA):c.2395C>T (p.Pro799Ser) rs762439008
NM_000135.2(FANCA):c.2570G>A (p.Cys857Tyr) rs886052484
NM_000135.2(FANCA):c.2602-14A>C rs886052483
NM_000135.2(FANCA):c.2602-9_2602-8delCT rs577636020
NM_000135.2(FANCA):c.2778+10C>T rs371786839
NM_000135.2(FANCA):c.2799A>G (p.Leu933=) rs148250597
NM_000135.2(FANCA):c.284-9G>C rs367672895
NM_000135.2(FANCA):c.2958C>T (p.Asn986=) rs368953287
NM_000135.2(FANCA):c.3114C>T (p.Leu1038=) rs55758861
NM_000135.2(FANCA):c.3138C>T (p.His1046=) rs150884376
NM_000135.2(FANCA):c.3265G>A (p.Val1089Ile) rs536839082
NM_000135.2(FANCA):c.3348+7G>T rs185527578
NM_000135.2(FANCA):c.3352A>G (p.Asn1118Asp) rs371208490
NM_000135.2(FANCA):c.3412C>G (p.Leu1138Val) rs138417003
NM_000135.2(FANCA):c.3514-13G>A rs200270574
NM_000135.2(FANCA):c.3531G>A (p.Leu1177=) rs886052482
NM_000135.2(FANCA):c.3551G>C (p.Arg1184Pro) rs147672303
NM_000135.2(FANCA):c.356C>G (p.Ser119Cys) rs751309143
NM_000135.2(FANCA):c.3701T>C (p.Ile1234Thr) rs886052481
NM_000135.2(FANCA):c.3766-14G>A rs34476949
NM_000135.2(FANCA):c.3825A>G (p.Ser1275=) rs886052480
NM_000135.2(FANCA):c.386C>T (p.Ala129Val) rs577625130
NM_000135.2(FANCA):c.3901T>A (p.Ser1301Thr) rs765162125
NM_000135.2(FANCA):c.3935-6T>C rs368376237
NM_000135.2(FANCA):c.3935-9G>A rs9282680
NM_000135.2(FANCA):c.3950G>A (p.Arg1317Gln) rs376523966
NM_000135.2(FANCA):c.3999C>T (p.Phe1333=) rs774576283
NM_000135.2(FANCA):c.3G>T (p.Met1Ile) rs1555581729
NM_000135.2(FANCA):c.4064A>T (p.His1355Leu) rs145886270
NM_000135.2(FANCA):c.4199G>A (p.Arg1400His) rs149851163
NM_000135.2(FANCA):c.577C>G (p.Leu193Val) rs141861208
NM_000135.2(FANCA):c.590T>C (p.Leu197Pro) rs886052488
NM_000135.2(FANCA):c.59G>A (p.Arg20Lys) rs376307136
NM_000135.2(FANCA):c.688G>A (p.Val230Ile) rs144560850
NM_000135.2(FANCA):c.695G>A (p.Arg232Lys) rs886052487
NM_000135.2(FANCA):c.74T>G (p.Leu25Arg) rs886052489
NM_000135.2(FANCA):c.793-9T>C rs757500718
NM_000135.2(FANCA):c.932T>C (p.Ile311Thr) rs75501942
NM_000135.3(FANCA):c.4274G>A (p.Arg1425His) rs147406377
NM_000135.3(FANCA):c.4302C>T (p.Ala1434=) rs142784426
NM_000135.3(FANCA):c.4332T>G (p.Pro1444=) rs149531696
NM_000135.4(FANCA):c.3141dup (p.Leu1048Profs)
NM_000136.2(FANCC):c.*1045C>T rs537983135
NM_000136.2(FANCC):c.*1262T>C rs45520432
NM_000136.2(FANCC):c.*1276C>A rs1057515698
NM_000136.2(FANCC):c.*1332A>G rs191983554
NM_000136.2(FANCC):c.*1339C>T rs144155068
NM_000136.2(FANCC):c.*1359C>G rs1009336483
NM_000136.2(FANCC):c.*143A>G rs189154697
NM_000136.2(FANCC):c.*1483T>C rs552548603
NM_000136.2(FANCC):c.*1495T>G rs41281198
NM_000136.2(FANCC):c.*1516A>G rs541816451
NM_000136.2(FANCC):c.*1727T>C rs4647557
NM_000136.2(FANCC):c.*1879C>T rs192262179
NM_000136.2(FANCC):c.*1895T>C rs56161090
NM_000136.2(FANCC):c.*1895T>G rs56161090
NM_000136.2(FANCC):c.*1968G>A rs114827984
NM_000136.2(FANCC):c.*2052G>C rs539833295
NM_000136.2(FANCC):c.*2128C>T rs567507884
NM_000136.2(FANCC):c.*2271G>A rs562841213
NM_000136.2(FANCC):c.*2296G>A rs561975553
NM_000136.2(FANCC):c.*2305G>A rs562465438
NM_000136.2(FANCC):c.*249C>T rs1046795121
NM_000136.2(FANCC):c.*2528A>G rs1057515696
NM_000136.2(FANCC):c.*254G>A rs773331481
NM_000136.2(FANCC):c.*338C>A rs920400068
NM_000136.2(FANCC):c.*450G>A rs149227790
NM_000136.2(FANCC):c.*516T>G rs1004604171
NM_000136.2(FANCC):c.*576C>T rs1057515701
NM_000136.2(FANCC):c.*593C>G rs561885351
NM_000136.2(FANCC):c.*667C>T rs150462386
NM_000136.2(FANCC):c.*825C>A rs1057515700
NM_000136.2(FANCC):c.*884C>T rs1038927110
NM_000136.2(FANCC):c.*97dupG rs1057515705
NM_000136.2(FANCC):c.*983C>T rs56059656
NM_000136.2(FANCC):c.-155A>C rs549658720
NM_000136.2(FANCC):c.-172G>T rs1057515706
NM_000136.2(FANCC):c.-225C>T rs182633348
NM_000136.2(FANCC):c.-246A>G rs1000528763
NM_000136.2(FANCC):c.1073-5C>T rs375613884
NM_000136.2(FANCC):c.1544C>G (p.Thr515Ser) rs201379302
NM_000136.2(FANCC):c.38A>G (p.Gln13Arg) rs199968672
NM_000136.2(FANCC):c.395C>G (p.Ala132Gly) rs587779905
NM_000136.2(FANCC):c.3G>A (p.Met1Ile)
NM_000136.2(FANCC):c.632C>G (p.Pro211Arg) rs140781259
NM_000136.2(FANCC):c.705C>T (p.Pro235=) rs141828876
NM_000136.2(FANCC):c.816C>T (p.Ile272=) rs55719336
NM_001018115.2(FANCD2):c.1336C>G (p.Leu446Val) rs34557223
NM_001018115.2(FANCD2):c.1656+14T>A rs200473919
NM_001113378.1(FANCI):c.*384A>G rs536522307
NM_001113378.1(FANCI):c.*440G>T rs1801377
NM_001113378.1(FANCI):c.*545_*547dupCTT rs1555452148
NM_001113378.1(FANCI):c.*614T>G rs886051521
NM_001113378.1(FANCI):c.-23G>A rs886051506
NM_001113378.1(FANCI):c.-72C>G rs886051505
NM_001113378.1(FANCI):c.-90T>C rs559714713
NM_001113378.1(FANCI):c.1111A>G (p.Ser371Gly) rs149008055
NM_001113378.1(FANCI):c.1113-10G>C rs756650711
NM_001113378.1(FANCI):c.1176A>T (p.Ser392=) rs201871288
NM_001113378.1(FANCI):c.1311A>G (p.Arg437=) rs772846275
NM_001113378.1(FANCI):c.1326G>A (p.Glu442=) rs34405660
NM_001113378.1(FANCI):c.1399G>A (p.Val467Ile) rs199726965
NM_001113378.1(FANCI):c.1491A>G (p.Gln497=) rs145349375
NM_001113378.1(FANCI):c.1512+3A>G rs760846523
NM_001113378.1(FANCI):c.1573A>G (p.Met525Val) rs144908351
NM_001113378.1(FANCI):c.17T>C (p.Leu6Ser) rs369268726
NM_001113378.1(FANCI):c.1801G>A (p.Val601Ile) rs200007022
NM_001113378.1(FANCI):c.1856T>A (p.Leu619Gln) rs151038616
NM_001113378.1(FANCI):c.1890+3A>G rs886051510
NM_001113378.1(FANCI):c.1900T>A (p.Phe634Ile) rs140965103
NM_001113378.1(FANCI):c.196C>T (p.Arg66Cys) rs143105092
NM_001113378.1(FANCI):c.2011A>G (p.Ile671Val) rs139814895
NM_001113378.1(FANCI):c.2021G>T (p.Cys674Phe) rs886051511
NM_001113378.1(FANCI):c.2169+12G>A rs886051512
NM_001113378.1(FANCI):c.2519G>A (p.Arg840His) rs777483611
NM_001113378.1(FANCI):c.2604A>C (p.Glu868Asp) rs118031800
NM_001113378.1(FANCI):c.2646A>G (p.Leu882=) rs199627578
NM_001113378.1(FANCI):c.2768A>G (p.Tyr923Cys) rs200907824
NM_001113378.1(FANCI):c.2832A>C (p.Arg944Ser) rs79685648
NM_001113378.1(FANCI):c.2856T>A (p.Thr952=) rs368915464
NM_001113378.1(FANCI):c.288+10C>T rs370505986
NM_001113378.1(FANCI):c.292C>T (p.His98Tyr) rs886051507
NM_001113378.1(FANCI):c.2997C>T (p.Ser999=) rs138675752
NM_001113378.1(FANCI):c.3103C>T (p.Leu1035=) rs34462132
NM_001113378.1(FANCI):c.3237G>A (p.Thr1079=) rs767103109
NM_001113378.1(FANCI):c.3241G>A (p.Ala1081Thr) rs375746069
NM_001113378.1(FANCI):c.3247A>G (p.Thr1083Ala) rs886051513
NM_001113378.1(FANCI):c.3400A>G (p.Ile1134Val) rs377630829
NM_001113378.1(FANCI):c.3705C>T (p.Ala1235=) rs185771112
NM_001113378.1(FANCI):c.3721-15G>A rs552581027
NM_001113378.1(FANCI):c.3721G>A (p.Ala1241Thr) rs140357734
NM_001113378.1(FANCI):c.3816+17_3816+19delTAT rs374324314
NM_001113378.1(FANCI):c.3896G>T (p.Arg1299Leu) rs138663330
NM_001113378.1(FANCI):c.467G>A (p.Cys156Tyr) rs112387610
NM_001113378.1(FANCI):c.539T>C (p.Met180Thr) rs139834845
NM_001113378.1(FANCI):c.546-6C>T rs754929965
NM_001113378.1(FANCI):c.606C>T (p.Phe202=) rs886051508
NM_001113378.1(FANCI):c.669+17_669+18delGT rs751881445
NM_001113378.1(FANCI):c.753C>T (p.Asp251=) rs151169233
NM_001113378.1(FANCI):c.849T>A (p.Tyr283Ter) rs760412752
NM_001114636.1(FANCL):c.*165A>G rs866675905
NM_001114636.1(FANCL):c.*296C>T rs201610023
NM_001114636.1(FANCL):c.*333A>G rs147811379
NM_001114636.1(FANCL):c.*447_*450delTGTT rs748896681
NM_001114636.1(FANCL):c.-13C>T rs757714548
NM_001114636.1(FANCL):c.-39A>C rs41281511
NM_001114636.1(FANCL):c.-39A>G rs41281511
NM_001114636.1(FANCL):c.-40C>A rs199661008
NM_001114636.1(FANCL):c.-44C>T rs780348127
NM_001114636.1(FANCL):c.1111_1114dupATTA (p.Thr372Asnfs) rs759217526
NM_001114636.1(FANCL):c.791-10dupT rs374236117
NM_001114636.1(FANCL):c.947dupA (p.Tyr316Terfs) rs529201454
NM_001114636.1(FANCL):c.984G>A (p.Val328=) rs200819615
NM_002693.2(POLG):c.*438_*441dupATCT rs1444126104
NM_002693.2(POLG):c.3644-9A>G rs115048121
NM_004629.1(FANCG):c.*101A>G rs751616369
NM_004629.1(FANCG):c.*250C>T rs535188841
NM_004629.1(FANCG):c.-182delG rs886063899
NM_004629.1(FANCG):c.-311T>A rs886063900
NM_004629.1(FANCG):c.-348A>G rs376750755
NM_004629.1(FANCG):c.-450G>C rs535301610
NM_004629.1(FANCG):c.-488G>A rs752617227
NM_004629.1(FANCG):c.-491G>A rs886063901
NM_004629.1(FANCG):c.-93C>G rs532840867
NM_004629.1(FANCG):c.1252G>A (p.Glu418Lys) rs886063896
NM_004629.1(FANCG):c.161dupT (p.His55Profs) rs886063898
NM_004629.1(FANCG):c.1638T>C (p.Gly546=) rs45537335
NM_004629.1(FANCG):c.1689G>C (p.Arg563=) rs138855718
NM_004629.1(FANCG):c.1808C>T (p.Ser603Phe) rs17878854
NM_004629.1(FANCG):c.238C>T (p.Leu80=) rs115131067
NM_004629.1(FANCG):c.682G>A (p.Ala228Thr) rs765095688
NM_004629.1(FANCG):c.880G>A (p.Gly294Arg) rs886063897
NM_004629.1(FANCG):c.957G>A (p.Pro319=) rs145092954
NM_018062.3(FANCL):c.755T>G (p.Phe252Cys) rs139801716
NM_020937.2(FANCM):c.1576C>G (p.Leu526Val) rs144215747
NM_020937.3(FANCM):c.*104_*107delTTTA rs886050504
NM_020937.3(FANCM):c.*140_*144delGATTA rs886050505
NM_020937.3(FANCM):c.*254dupG rs112491585
NM_020937.3(FANCM):c.*368C>G rs886050507
NM_020937.3(FANCM):c.*375A>G rs749001988
NM_020937.3(FANCM):c.*546C>G rs886050508
NM_020937.3(FANCM):c.*756G>A rs886050509
NM_020937.3(FANCM):c.*797T>C rs886050510
NM_020937.3(FANCM):c.1040C>T (p.Pro347Leu) rs151071546
NM_020937.3(FANCM):c.1394A>G (p.Asn465Ser) rs747572587
NM_020937.3(FANCM):c.1539A>G (p.Ser513=) rs886050499
NM_020937.3(FANCM):c.171G>C (p.Leu57Phe) rs142007602
NM_020937.3(FANCM):c.1741C>T (p.Arg581Cys) rs202171930
NM_020937.3(FANCM):c.1760T>C (p.Ile587Thr) rs147805461
NM_020937.3(FANCM):c.1880G>C (p.Arg627Pro) rs777379515
NM_020937.3(FANCM):c.1964A>G (p.Asn655Ser) rs61753893
NM_020937.3(FANCM):c.2160+10A>G rs767254996
NM_020937.3(FANCM):c.2240A>G (p.His747Arg) rs181827583
NM_020937.3(FANCM):c.2339A>C (p.Glu780Ala) rs149856496
NM_020937.3(FANCM):c.2389C>G (p.Pro797Ala) rs144771929
NM_020937.3(FANCM):c.269C>T (p.Pro90Leu) rs142904668
NM_020937.3(FANCM):c.2734A>G (p.Ile912Val) rs45568842
NM_020937.3(FANCM):c.2859A>C (p.Lys953Asn) rs142864437
NM_020937.3(FANCM):c.3040G>T (p.Gly1014Cys) rs77532752
NM_020937.3(FANCM):c.3096T>C (p.Asp1032=) rs199507375
NM_020937.3(FANCM):c.3327T>C (p.Asn1109=) rs886050500
NM_020937.3(FANCM):c.3758A>T (p.Asn1253Ile) rs45604036
NM_020937.3(FANCM):c.390C>T (p.Arg130=) rs147395934
NM_020937.3(FANCM):c.3998A>C (p.Gln1333Pro) rs143681767
NM_020937.3(FANCM):c.4047A>G (p.Ser1349=) rs772889740
NM_020937.3(FANCM):c.4102G>A (p.Val1368Ile) rs886050501
NM_020937.3(FANCM):c.4222+7T>G rs148675704
NM_020937.3(FANCM):c.4261G>A (p.Glu1421Lys) rs886050502
NM_020937.3(FANCM):c.4366C>T (p.Arg1456Cys) rs200360968
NM_020937.3(FANCM):c.4563A>C (p.Glu1521Asp) rs113986680
NM_020937.3(FANCM):c.4606A>G (p.Asn1536Asp) rs375640203
NM_020937.3(FANCM):c.4627C>T (p.Leu1543Phe) rs139536545
NM_020937.3(FANCM):c.4709G>A (p.Arg1570His) rs201803784
NM_020937.3(FANCM):c.4878T>C (p.Asp1626=) rs150389713
NM_020937.3(FANCM):c.4933C>T (p.Arg1645Cys) rs186197572
NM_020937.3(FANCM):c.496G>A (p.Ala166Thr) rs369365858
NM_020937.3(FANCM):c.508+5C>G rs886050497
NM_020937.3(FANCM):c.5097A>G (p.Lys1699=) rs886050503
NM_020937.3(FANCM):c.5108A>G (p.His1703Arg) rs146897650
NM_020937.3(FANCM):c.5177C>T (p.Pro1726Leu) rs750384175
NM_020937.3(FANCM):c.5224A>G (p.Ile1742Val) rs143662421
NM_020937.3(FANCM):c.527C>T (p.Thr176Ile) rs77374493
NM_020937.3(FANCM):c.547A>C (p.Ser183Arg) rs368937236
NM_020937.3(FANCM):c.555A>G (p.Arg185=) rs886050498
NM_020937.3(FANCM):c.5824G>A (p.Ala1942Thr) rs759078220
NM_020937.3(FANCM):c.5887A>G (p.Thr1963Ala) rs757062269
NM_020937.3(FANCM):c.6138T>G (p.Ser2046=) rs746677351
NM_020937.3(FANCM):c.926A>C (p.Glu309Ala) rs143006771
NM_020937.3(FANCM):c.92G>T (p.Arg31Leu) rs886050496
NM_021922.2(FANCE):c.*322C>T rs559999264
NM_021922.2(FANCE):c.*401G>C rs886061333
NM_021922.2(FANCE):c.*729A>G rs886061334
NM_021922.2(FANCE):c.-100C>T rs374493565
NM_021922.2(FANCE):c.-105C>T rs886061326
NM_021922.2(FANCE):c.-132A>G rs886061325
NM_021922.2(FANCE):c.-182G>A rs886061324
NM_021922.2(FANCE):c.-19G>C rs13215706
NM_021922.2(FANCE):c.1007T>C (p.Leu336Pro) rs886061330
NM_021922.2(FANCE):c.1018G>C (p.Gly340Arg) rs45524646
NM_021922.2(FANCE):c.1290G>T (p.Glu430Asp) rs886061331
NM_021922.2(FANCE):c.1333C>T (p.Pro445Ser) rs141551053
NM_021922.2(FANCE):c.1378C>T (p.Arg460Trp) rs200535245
NM_021922.2(FANCE):c.1424A>G (p.Lys475Arg) rs200083899
NM_021922.2(FANCE):c.1510-11C>T rs189384185
NM_021922.2(FANCE):c.1572G>A (p.Arg524=) rs115195341
NM_021922.2(FANCE):c.1593G>A (p.Leu531=) rs886061332
NM_021922.2(FANCE):c.216G>T (p.Pro72=) rs886061328
NM_021922.2(FANCE):c.229C>A (p.Pro77Thr) rs587778335
NM_021922.2(FANCE):c.253C>T (p.Pro85Ser) rs145068586
NM_021922.2(FANCE):c.480C>A (p.Cys160Ter) rs45509302
NM_021922.2(FANCE):c.4G>C (p.Ala2Pro) rs886061327
NM_021922.2(FANCE):c.552A>C (p.Pro184=) rs138182352
NM_021922.2(FANCE):c.696G>A (p.Glu232=) rs147356927
NM_021922.2(FANCE):c.862C>T (p.Leu288Phe) rs886061329
NM_021922.2(FANCE):c.977T>G (p.Leu326Trp) rs779336261
NM_022725.3(FANCF):c.*1094A>G rs544116147
NM_022725.3(FANCF):c.*1119T>A rs558392453
NM_022725.3(FANCF):c.*1190C>A rs750376328
NM_022725.3(FANCF):c.*1338dupA rs45554234
NM_022725.3(FANCF):c.*1509G>C rs886048153
NM_022725.3(FANCF):c.*1525T>G rs886048152
NM_022725.3(FANCF):c.*1535T>A rs886048151
NM_022725.3(FANCF):c.*1630G>A rs559054290
NM_022725.3(FANCF):c.*1632G>C rs886048150
NM_022725.3(FANCF):c.*1696G>A rs886048149
NM_022725.3(FANCF):c.*1879T>C rs45553340
NM_022725.3(FANCF):c.*2071A>G rs886048148
NM_022725.3(FANCF):c.*2123G>A rs45625034
NM_022725.3(FANCF):c.*287C>T rs886048156
NM_022725.3(FANCF):c.*499T>C rs566136504
NM_022725.3(FANCF):c.*565A>G rs886048155
NM_022725.3(FANCF):c.*597G>A rs373336301
NM_022725.3(FANCF):c.*624G>C rs768178918
NM_022725.3(FANCF):c.*655_*659delATTAA rs886048154
NM_022725.3(FANCF):c.*695dupT rs796646840
NM_022725.3(FANCF):c.*708C>T rs61889392
NM_022725.3(FANCF):c.*709G>T rs140060318
NM_022725.3(FANCF):c.*7C>G rs770964562
NM_022725.3(FANCF):c.-21A>G rs751857151
NM_022725.3(FANCF):c.-31T>C rs202069513
NM_022725.3(FANCF):c.1006G>A (p.Asp336Asn) rs886048157
NM_022725.3(FANCF):c.101C>T (p.Ala34Val) rs780228540
NM_022725.3(FANCF):c.1087C>T (p.Gln363Ter) rs201285915
NM_022725.3(FANCF):c.199A>C (p.Arg67=) rs146647469
NM_022725.3(FANCF):c.210C>T (p.Gly70=) rs769740744
NM_022725.3(FANCF):c.241G>T (p.Ala81Ser) rs145057187
NM_022725.3(FANCF):c.261_263delTCA (p.His88del) rs886048158
NM_022725.3(FANCF):c.2T>C (p.Met1Thr) rs745495865
NM_022725.3(FANCF):c.350C>T (p.Pro117Leu) rs374572943
NM_022725.3(FANCF):c.373G>A (p.Asp125Asn) rs61752920
NM_022725.3(FANCF):c.385C>G (p.Leu129Val) rs61753271
NM_022725.3(FANCF):c.387C>T (p.Leu129=) rs45556032
NM_022725.3(FANCF):c.436C>G (p.Leu146Val) rs779428484
NM_022725.3(FANCF):c.465A>T (p.Pro155=) rs201215734
NM_022725.3(FANCF):c.547G>C (p.Glu183Gln) rs774728053
NM_022725.3(FANCF):c.557C>T (p.Ala186Val) rs113910234
NM_022725.3(FANCF):c.633G>T (p.Gln211His) rs146975768
NM_022725.3(FANCF):c.860A>G (p.Tyr287Cys) rs750623273
NM_024675.3(PALB2):c.-149G>A rs886051832
NM_024675.3(PALB2):c.113C>G (p.Ala38Gly) rs371875379
NM_024675.3(PALB2):c.1379A>G (p.Gln460Arg) rs749494645
NM_024675.3(PALB2):c.1955G>A (p.Ser652Asn) rs587781818
NM_024675.3(PALB2):c.2100A>T (p.Ser700=) rs757145884
NM_024675.3(PALB2):c.2379C>T (p.Gly793=) rs377626805
NM_024675.3(PALB2):c.2507_2509delTCG (p.Val836del) rs587782697
NM_024675.3(PALB2):c.2896A>G (p.Ile966Val) rs786204248
NM_024675.3(PALB2):c.733G>C (p.Ala245Pro) rs886051831
NM_032043.2(BRIP1):c.*1048_*1050delTAT rs564290244
NM_032043.2(BRIP1):c.*1257_*1258delAG rs886053209
NM_032043.2(BRIP1):c.*128A>G rs150444311
NM_032043.2(BRIP1):c.*1381G>T rs886053208
NM_032043.2(BRIP1):c.*1393G>T rs754698039
NM_032043.2(BRIP1):c.*1868G>T rs184666432
NM_032043.2(BRIP1):c.*2337A>T rs373664066
NM_032043.2(BRIP1):c.*2522A>G rs886053207
NM_032043.2(BRIP1):c.*2667C>T rs373156872
NM_032043.2(BRIP1):c.*2668G>A rs886053206
NM_032043.2(BRIP1):c.*2691C>G rs886053205
NM_032043.2(BRIP1):c.*2692A>G rs886053204
NM_032043.2(BRIP1):c.*2715C>T rs886053203
NM_032043.2(BRIP1):c.*2811_*2815dupAAAAA rs768910110
NM_032043.2(BRIP1):c.*2812_*2815dupAAAA rs768910110
NM_032043.2(BRIP1):c.*2815_*2816insAAAGAAA rs1555571892
NM_032043.2(BRIP1):c.*2815_*2816insAAGAAA rs1555571892
NM_032043.2(BRIP1):c.*2815_*2816insAGAAA rs1555571892
NM_032043.2(BRIP1):c.*2817_*2818insGAAAGA rs886053202
NM_032043.2(BRIP1):c.*2819_*2820insAAAA rs551338531
NM_032043.2(BRIP1):c.*2819_*2820insAAAAAA rs551338531
NM_032043.2(BRIP1):c.*2819_*2820insAAAAAAA rs551338531
NM_032043.2(BRIP1):c.*288A>G rs886053213
NM_032043.2(BRIP1):c.*2908C>T rs549941795
NM_032043.2(BRIP1):c.*2926T>A rs886053201
NM_032043.2(BRIP1):c.*3145A>G rs886053200
NM_032043.2(BRIP1):c.*3188G>A rs369850537
NM_032043.2(BRIP1):c.*3307T>C rs886053199
NM_032043.2(BRIP1):c.*339G>C rs886053212
NM_032043.2(BRIP1):c.*3479A>G rs573351550
NM_032043.2(BRIP1):c.*3489T>C rs140891191
NM_032043.2(BRIP1):c.*3617T>C rs886053198
NM_032043.2(BRIP1):c.*380C>T rs556729826
NM_032043.2(BRIP1):c.*3821A>G rs886053197
NM_032043.2(BRIP1):c.*3918C>T rs886053196
NM_032043.2(BRIP1):c.*3924T>G rs886053195
NM_032043.2(BRIP1):c.*396_*397delCT rs546666211
NM_032043.2(BRIP1):c.*421C>T rs886053211
NM_032043.2(BRIP1):c.*900C>A rs886053210
NM_032043.2(BRIP1):c.-229C>G rs886053217
NM_032043.2(BRIP1):c.-237dupT rs112243287
NM_032043.2(BRIP1):c.1474-3T>C rs552752779
NM_032043.2(BRIP1):c.1629-11T>C rs375710640
NM_032043.2(BRIP1):c.1641T>G (p.Asp547Glu) rs754414731
NM_032043.2(BRIP1):c.1774T>G (p.Trp592Gly) rs587780231
NM_032043.2(BRIP1):c.1935+11_1935+13delGTT rs730881641
NM_032043.2(BRIP1):c.2097+7G>A rs4988352
NM_032043.2(BRIP1):c.2286T>C (p.Arg762=) rs61754141
NM_032043.2(BRIP1):c.2741T>C (p.Leu914Ser) rs886053215
NM_032043.2(BRIP1):c.2801T>C (p.Phe934Ser) rs778916092
NM_032043.2(BRIP1):c.2811T>C (p.Asp937=) rs374335608
NM_032043.2(BRIP1):c.2829C>A (p.Val943=) rs767164240
NM_032043.2(BRIP1):c.3020C>A (p.Ser1007Tyr) rs886053214
NM_032043.2(BRIP1):c.3099T>C (p.Pro1033=) rs202228407
NM_032043.2(BRIP1):c.3251C>G (p.Thr1084Ser) rs876660768
NM_032043.2(BRIP1):c.3459T>C (p.Asp1153=) rs4987050
NM_032043.2(BRIP1):c.36G>T (p.Gly12=) rs45566938
NM_032043.2(BRIP1):c.54T>C (p.Pro18=) rs886053216
NM_032043.2(BRIP1):c.612C>G (p.Ser204=) rs587780832
NM_032043.2(BRIP1):c.93+15G>A rs113052745
NM_032444.3(SLX4):c.*1022A>G rs78346491
NM_032444.3(SLX4):c.*1095G>A rs116498263
NM_032444.3(SLX4):c.*1150G>C rs886051972
NM_032444.3(SLX4):c.*128A>G rs528843807
NM_032444.3(SLX4):c.*168T>G rs886051975
NM_032444.3(SLX4):c.*298_*301delTTTT rs566716185
NM_032444.3(SLX4):c.*311G>A rs749668095
NM_032444.3(SLX4):c.*374C>T rs369843531
NM_032444.3(SLX4):c.*469A>T rs868278470
NM_032444.3(SLX4):c.*555C>T rs146163310
NM_032444.3(SLX4):c.*652A>G rs546917026
NM_032444.3(SLX4):c.*658T>C rs541410329
NM_032444.3(SLX4):c.*811G>C rs371879504
NM_032444.3(SLX4):c.*871A>G rs886051974
NM_032444.3(SLX4):c.*957C>T rs886051973
NM_032444.3(SLX4):c.*98A>G rs551538592
NM_032444.3(SLX4):c.-112C>A rs779687936
NM_032444.3(SLX4):c.-143_-140delAACA rs779611690
NM_032444.3(SLX4):c.-19G>A rs113845637
NM_032444.3(SLX4):c.-210G>A rs747849749
NM_032444.3(SLX4):c.-211dup rs149138178
NM_032444.3(SLX4):c.-21G>C rs200717103
NM_032444.3(SLX4):c.-271G>A rs149773885
NM_032444.3(SLX4):c.-305C>T rs886051983
NM_032444.3(SLX4):c.-381A>G rs375326827
NM_032444.3(SLX4):c.-395C>T rs886051984
NM_032444.3(SLX4):c.-416G>A rs528320603
NM_032444.3(SLX4):c.-580T>C rs886051985
NM_032444.3(SLX4):c.-602-6C>G rs886051986
NM_032444.3(SLX4):c.-603+8G>C rs886051987
NM_032444.3(SLX4):c.-616C>T rs886051988
NM_032444.3(SLX4):c.1110T>C (p.Ala370=) rs886051981
NM_032444.3(SLX4):c.1115G>A (p.Arg372Gln) rs372956623
NM_032444.3(SLX4):c.1324A>C (p.Arg442=) rs886051980
NM_032444.3(SLX4):c.1325G>C (p.Arg442Thr) rs886051979
NM_032444.3(SLX4):c.13G>A (p.Val5Met) rs750091754
NM_032444.3(SLX4):c.1415T>C (p.Leu472Ser) rs776189589
NM_032444.3(SLX4):c.1520G>A (p.Arg507Lys) rs762550449
NM_032444.3(SLX4):c.1547C>T (p.Ala516Val) rs199683722
NM_032444.3(SLX4):c.1583G>A (p.Ser528Asn) rs752899329
NM_032444.3(SLX4):c.1707G>A (p.Pro569=) rs141687678
NM_032444.3(SLX4):c.1740C>T (p.Ser580=) rs200354014
NM_032444.3(SLX4):c.1755C>T (p.Pro585=) rs114016359
NM_032444.3(SLX4):c.1911G>T (p.Ser637=) rs200013924
NM_032444.3(SLX4):c.1941C>T (p.Pro647=) rs540288743
NM_032444.3(SLX4):c.1976C>T (p.Ser659Leu) rs372150541
NM_032444.3(SLX4):c.2006G>A (p.Arg669His) rs200807331
NM_032444.3(SLX4):c.2057A>G (p.Asn686Ser) rs571330689
NM_032444.3(SLX4):c.2125G>A (p.Val709Met) rs151026877
NM_032444.3(SLX4):c.2235C>T (p.Thr745=) rs75184268
NM_032444.3(SLX4):c.231A>G (p.Gln77=) rs143279888
NM_032444.3(SLX4):c.2585G>A (p.Arg862Gln) rs143558209
NM_032444.3(SLX4):c.2681T>G (p.Val894Gly) rs145137472
NM_032444.3(SLX4):c.2786C>T (p.Pro929Leu) rs117707719
NM_032444.3(SLX4):c.2844G>A (p.Ala948=) rs376877866
NM_032444.3(SLX4):c.2882C>T (p.Pro961Leu) rs886051978
NM_032444.3(SLX4):c.2924C>T (p.Pro975Leu) rs114472821
NM_032444.3(SLX4):c.2975G>A (p.Gly992Glu) rs139287784
NM_032444.3(SLX4):c.2991G>A (p.Pro997=) rs770736311
NM_032444.3(SLX4):c.3062G>C (p.Arg1021Pro) rs200842643
NM_032444.3(SLX4):c.3087A>T (p.Pro1029=) rs746254787
NM_032444.3(SLX4):c.3118C>T (p.Pro1040Ser) rs201359490
NM_032444.3(SLX4):c.360T>C (p.Thr120=) rs886051982
NM_032444.3(SLX4):c.3841G>A (p.Gly1281Arg) rs754996241
NM_032444.3(SLX4):c.3857C>T (p.Ala1286Val) rs149011965
NM_032444.3(SLX4):c.3912C>T (p.Val1304=) rs140254478
NM_032444.3(SLX4):c.3913G>A (p.Ala1305Thr) rs763524714
NM_032444.3(SLX4):c.3940C>A (p.Gln1314Lys) rs142040192
NM_032444.3(SLX4):c.4057C>A (p.His1353Asn) rs142205392
NM_032444.3(SLX4):c.4068G>A (p.Pro1356=) rs115491049
NM_032444.3(SLX4):c.4347G>A (p.Leu1449=) rs373300793
NM_032444.3(SLX4):c.4494G>A (p.Leu1498=) rs146532299
NM_032444.3(SLX4):c.4546G>A (p.Gly1516Arg) rs775915651
NM_032444.3(SLX4):c.4656_4658delGAA (p.Lys1552del) rs760517738
NM_032444.3(SLX4):c.4750C>T (p.Arg1584Cys) rs560866356
NM_032444.3(SLX4):c.4889C>A (p.Ala1630Asp) rs886051977
NM_032444.3(SLX4):c.489T>G (p.Gly163=) rs201211891
NM_032444.3(SLX4):c.4918G>C (p.Gly1640Arg) rs368102037
NM_032444.3(SLX4):c.5027C>T (p.Thr1676Ile) rs377544881
NM_032444.3(SLX4):c.5029C>T (p.Pro1677Ser) rs7196345
NM_032444.3(SLX4):c.5042C>T (p.Ser1681Leu) rs530123827
NM_032444.3(SLX4):c.5060C>G (p.Pro1687Arg) rs765960272
NM_032444.3(SLX4):c.5281C>T (p.Arg1761Cys) rs143818824
NM_032444.3(SLX4):c.5418C>G (p.Ile1806Met) rs886051976
NM_032444.3(SLX4):c.561G>T (p.Gln187His) rs778738306
NM_032444.3(SLX4):c.742G>A (p.Glu248Lys) rs148547201
NM_032444.3(SLX4):c.752C>T (p.Ala251Val) rs201117707
NM_032444.3(SLX4):c.890A>G (p.Gln297Arg) rs778643553
NM_032444.4(SLX4):c.-46G>A rs113023461
NM_032444.4(SLX4):c.2584C>T (p.Arg862Ter)
NM_032444.4(SLX4):c.4996C>T (p.Arg1666Ter)
NM_033084.4(FANCD2):c.*122C>T rs886057694
NM_033084.4(FANCD2):c.*220A>G rs770674504
NM_033084.4(FANCD2):c.*390A>G rs886057695
NM_033084.4(FANCD2):c.*399G>A rs886057696
NM_033084.4(FANCD2):c.*408C>T rs540249462
NM_033084.4(FANCD2):c.*427C>A rs550613588
NM_033084.4(FANCD2):c.*44C>T rs370459744
NM_033084.4(FANCD2):c.*462C>T rs548255173
NM_033084.4(FANCD2):c.*688A>G rs886057697
NM_033084.4(FANCD2):c.-33-13G>A rs113338938
NM_033084.4(FANCD2):c.1116C>T (p.Ala372=) rs370078641
NM_033084.4(FANCD2):c.1134+8T>G rs373232961
NM_033084.4(FANCD2):c.1232G>T (p.Cys411Phe) rs886057663
NM_033084.4(FANCD2):c.1265C>G (p.Ser422Cys) rs765378218
NM_033084.4(FANCD2):c.1400C>T (p.Thr467Met) rs760246372
NM_033084.4(FANCD2):c.1545+9T>C rs769459614
NM_033084.4(FANCD2):c.1546-8T>C rs530202330
NM_033084.4(FANCD2):c.1874C>T (p.Pro625Leu) rs886057690
NM_033084.4(FANCD2):c.1948-7C>T rs757782326
NM_033084.4(FANCD2):c.195G>C (p.Gln65His) rs36084488
NM_033084.4(FANCD2):c.2022-5C>T rs4019784
NM_033084.4(FANCD2):c.2067C>T (p.Tyr689=) rs763189891
NM_033084.4(FANCD2):c.2148C>G (p.Thr716=) rs55856815
NM_033084.4(FANCD2):c.2181G>A (p.Pro727=) rs560600678
NM_033084.4(FANCD2):c.2469A>G (p.Gln823=) rs574054963
NM_033084.4(FANCD2):c.2480A>C (p.Glu827Ala) rs145099733
NM_033084.4(FANCD2):c.2581A>G (p.Lys861Glu) rs886057691
NM_033084.4(FANCD2):c.2613A>C (p.Lys871Asn) rs56041034
NM_033084.4(FANCD2):c.2826G>A (p.Thr942=) rs200118565
NM_033084.4(FANCD2):c.2826G>C (p.Thr942=) rs200118565
NM_033084.4(FANCD2):c.3105+15C>T rs460965
NM_033084.4(FANCD2):c.3351C>T (p.Tyr1117=) rs566518051
NM_033084.4(FANCD2):c.33G>A (p.Glu11=) rs147426418
NM_033084.4(FANCD2):c.3446C>T (p.Ala1149Val) rs147675860
NM_033084.4(FANCD2):c.3646A>G (p.Lys1216Glu) rs367552677
NM_033084.4(FANCD2):c.3734C>T (p.Thr1245Met) rs764775864
NM_033084.4(FANCD2):c.3788A>G (p.Glu1263Gly) rs886057692
NM_033084.4(FANCD2):c.382G>T (p.Gly128Cys) rs772201181
NM_033084.4(FANCD2):c.4186-13C>T rs755767180
NM_033084.4(FANCD2):c.4186-5T>C rs763801603
NM_033084.4(FANCD2):c.4234_4239del (p.Ser1412_Glu1413del) rs766605179
NM_033084.4(FANCD2):c.491+10G>A rs17032279
NM_058216.2(RAD51C):c.1102C>T (p.Arg368Trp) rs587780253
NM_058216.2(RAD51C):c.87T>C (p.Ser29=) rs786203249

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.