ClinVar Miner

Variants from Leiden Open Variation Database with conflicting interpretations

Location: Netherlands — Primary collection method: curation
Minimum review status of the submission from Leiden Open Variation Database: Collection method of the submission from Leiden Open Variation Database:
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
1036 285 4 188 87 7 53 329

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 submitters
Leiden Open Variation Database pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 4 99 23 6 9 7
likely pathogenic 5 0 4 1 0 0
uncertain significance 12 6 0 33 26 0
likely benign 0 0 25 0 56 0
benign 0 0 11 28 0 0

Submitter to submitter summary #

Total submitters: 34
Download table as spreadsheet
Submitter 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
Invitae 0 189 0 35 30 0 27 92
Counsyl 0 67 0 62 1 0 12 75
GeneDx 0 88 0 29 36 0 5 70
PreventionGenetics, PreventionGenetics 0 20 0 34 12 0 3 49
Integrated Genetics/Laboratory Corporation of America 0 43 0 21 13 0 2 36
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 16 0 24 2 0 0 26
Illumina Clinical Services Laboratory,Illumina 0 8 0 3 6 0 13 22
CeGaT Praxis fuer Humangenetik Tuebingen 0 18 0 7 10 0 1 18
Natera, Inc. 0 18 0 4 4 0 9 17
Cancer Genetics Laboratory,Peter MacCallum Cancer Centre 0 10 0 9 6 0 0 15
Genetic Services Laboratory, University of Chicago 0 13 0 5 7 0 2 14
Quest Diagnostics Nichols Institute San Juan Capistrano 0 43 0 8 3 0 1 12
OMIM 0 39 0 0 0 7 1 8
Mendelics 0 12 0 4 1 0 1 6
Fulgent Genetics,Fulgent Genetics 0 10 0 5 0 0 1 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 6 0 1 4 0 1 6
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 8 0 4 0 0 1 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 3 0 2 2 0 0 4
GeneReviews 0 4 4 0 0 0 0 4
Baylor Genetics 0 16 0 2 0 0 1 3
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 8 0 1 2 0 0 3
Department of Pathology and Laboratory Medicine,Sinai Health System 0 9 0 1 2 0 0 3
Myriad Women's Health, Inc. 0 3 0 3 0 0 0 3
GeneKor MSA 0 1 0 2 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 9 0 1 0 0 1 2
CZECANCA consortium 0 2 0 0 0 0 2 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 2 0 0 1 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 0 1 0 0 0 1
Center for Individualized Medicine,Mayo Clinic 0 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 0 1 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 0 1 0 0 1
Division of Medical Genetics, University of Washington 0 2 0 0 1 0 0 1
Department of Medical Genetics,Faculty of Medicine, Istanbul University 0 0 0 1 0 0 0 1
Nilou-Genome Lab 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 329
Download table as spreadsheet
HGVS dbSNP
NM_000135.2(FANCA):c.3788_3790delTCT (p.Phe1263del) rs397507553
NM_000135.4(FANCA):c.1034_1035del (p.Glu345fs) rs769580546
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs) rs397507552
NM_000135.4(FANCA):c.11C>A (p.Ser4Ter) rs1484087361
NM_000135.4(FANCA):c.1226-2A>G rs773906241
NM_000135.4(FANCA):c.1267C>T (p.Gln423Ter) rs774026652
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys) rs148473140
NM_000135.4(FANCA):c.1304G>T (p.Arg435Leu) rs1060501879
NM_000135.4(FANCA):c.1340C>G (p.Ser447Ter) rs149551759
NM_000135.4(FANCA):c.1475A>G (p.His492Arg) rs925457555
NM_000135.4(FANCA):c.1475A>T (p.His492Leu) rs925457555
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser) rs2239359
NM_000135.4(FANCA):c.1814_1815del (p.Glu605fs) rs759899153
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751
NM_000135.4(FANCA):c.190-1G>T rs765277254
NM_000135.4(FANCA):c.1944del (p.Glu648fs) rs1555549451
NM_000135.4(FANCA):c.1A>G (p.Met1Val) rs772751654
NM_000135.4(FANCA):c.2014+1G>C rs1598116164
NM_000135.4(FANCA):c.2026C>T (p.Gln676Ter) rs1448463647
NM_000135.4(FANCA):c.2051T>C (p.Leu684Pro) rs762526878
NM_000135.4(FANCA):c.2107C>T (p.Gln703Ter) rs1555548512
NM_000135.4(FANCA):c.2151G>T (p.Met717Ile) rs1131660
NM_000135.4(FANCA):c.2164CTG[1] (p.Leu723del) rs1567618907
NM_000135.4(FANCA):c.2175_2182del (p.Phe726fs) rs1555547935
NM_000135.4(FANCA):c.2222+1G>C rs775388912
NM_000135.4(FANCA):c.2303T>C (p.Leu768Pro) rs1490352414
NM_000135.4(FANCA):c.240_241del (p.Cys80_Asp81delinsTer)
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp) rs7195066
NM_000135.4(FANCA):c.2492TCT[1] (p.Phe832del) rs1310756192
NM_000135.4(FANCA):c.24C>G (p.Asn8Lys) rs76275444
NM_000135.4(FANCA):c.2524del (p.Ser842fs) rs1205909298
NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter) rs1247378731
NM_000135.4(FANCA):c.2534T>C (p.Leu845Pro) rs1173704265
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141
NM_000135.4(FANCA):c.258T>A (p.Tyr86Ter) rs1452688134
NM_000135.4(FANCA):c.2602T>G (p.Phe868Val) rs1555545588
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro) rs780825099
NM_000135.4(FANCA):c.2632G>C (p.Glu878Gln)
NM_000135.4(FANCA):c.2638C>G (p.Arg880Gly) rs762804216
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398
NM_000135.4(FANCA):c.2778+1G>A rs140180549
NM_000135.4(FANCA):c.2778+83C>G rs750997715
NM_000135.4(FANCA):c.2807A>G (p.Glu936Gly)
NM_000135.4(FANCA):c.283+1G>T rs1232171121
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp) rs755546887
NM_000135.4(FANCA):c.2853-15_2856del rs1285346388
NM_000135.4(FANCA):c.2853-2A>C rs947311062
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu) rs149112292
NM_000135.4(FANCA):c.3031C>T (p.Arg1011Cys) rs142377616
NM_000135.4(FANCA):c.3066+1G>A
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp) rs753063086
NM_000135.4(FANCA):c.3164G>T (p.Arg1055Leu) rs1429943036
NM_000135.4(FANCA):c.3239G>A (p.Arg1080Gln) rs1555538571
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe) rs17233497
NM_000135.4(FANCA):c.3266T>G (p.Val1089Gly)
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly) rs149277003
NM_000135.4(FANCA):c.3382C>G (p.Gln1128Glu) rs1439817346
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197
NM_000135.4(FANCA):c.3397del (p.His1133fs)
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp) rs143671872
NM_000135.4(FANCA):c.3581C>T (p.Pro1194Leu) rs1555536390
NM_000135.4(FANCA):c.3592C>T (p.Gln1198Ter) rs1381684916
NM_000135.4(FANCA):c.3602AAG[1] (p.Glu1202del) rs1380850249
NM_000135.4(FANCA):c.3696del (p.Phe1232fs) rs1555535527
NM_000135.4(FANCA):c.3761_3762dup (p.Glu1255fs) rs868273545
NM_000135.4(FANCA):c.3878del (p.Glu1293fs)
NM_000135.4(FANCA):c.3884T>A (p.Leu1295Ter) rs986710868
NM_000135.4(FANCA):c.3884T>G (p.Leu1295Ter) rs986710868
NM_000135.4(FANCA):c.3904T>C (p.Trp1302Arg) rs878853665
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe) rs753700179
NM_000135.4(FANCA):c.3971C>T (p.Pro1324Leu) rs182657062
NM_000135.4(FANCA):c.3982A>G (p.Thr1328Ala) rs9282681
NM_000135.4(FANCA):c.4010+1_4010+18del rs752457319
NM_000135.4(FANCA):c.4015del (p.Leu1339fs) rs762902309
NM_000135.4(FANCA):c.401dup (p.Val135fs) rs1555575253
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr) rs17227396
NM_000135.4(FANCA):c.4075G>T (p.Asp1359Tyr) rs1555533313
NM_000135.4(FANCA):c.4167+46C>T rs191404781
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys) rs745882980
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp) rs17227403
NM_000135.4(FANCA):c.424A>T (p.Arg142Ter)
NM_000135.4(FANCA):c.426+2T>G rs1598190568
NM_000135.4(FANCA):c.4261-2A>G
NM_000135.4(FANCA):c.4275del (p.Asp1427fs) rs1598048941
NM_000135.4(FANCA):c.542C>T (p.Ala181Val) rs17232246
NM_000135.4(FANCA):c.597-1G>C rs147945881
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter) rs761341952
NM_000135.4(FANCA):c.709+5G>A rs759877008
NM_000135.4(FANCA):c.709+5G>T rs759877008
NM_000135.4(FANCA):c.793-3C>G rs749688050
NM_000135.4(FANCA):c.811C>T (p.Gln271Ter) rs372163487
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter) rs1291524243
NM_000135.4(FANCA):c.894-2A>G rs976556567
NM_000135.4(FANCA):c.916_917del (p.Thr306fs) rs764122657
NM_000135.4(FANCA):c.971T>G (p.Leu324Arg) rs1447363475
NM_000136.3(FANCC):c.*42G>A rs7029888
NM_000136.3(FANCC):c.1155-1G>C
NM_000136.3(FANCC):c.1333C>T (p.Gln445Ter) rs1057516298
NM_000136.3(FANCC):c.1345G>A (p.Val449Met) rs1800367
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg) rs1800368
NM_000136.3(FANCC):c.1417C>T (p.Gln473Ter) rs1410356625
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) rs104886458
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441
NM_000136.3(FANCC):c.356_360del (p.Ser119fs) rs1060499606
NM_000136.3(FANCC):c.377_378del (p.Arg126fs) rs1564720637
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784
NM_000136.3(FANCC):c.408A>G (p.Gln136=) rs1800360
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu) rs1800362
NM_000136.3(FANCC):c.455dup (p.Asn152fs) rs774170058
NM_000136.3(FANCC):c.487_490del (p.Glu163fs) rs730881708
NM_000136.3(FANCC):c.489_490del (p.Asn164fs) rs730881708
NM_000136.3(FANCC):c.520C>T (p.Arg174Ter) rs781542763
NM_000136.3(FANCC):c.521+1G>A rs145394391
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg) rs140781259
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter) rs377294947
NM_000136.3(FANCC):c.705C>T (p.Pro235=) rs141828876
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361
NM_000136.3(FANCC):c.816C>T (p.Ile272=) rs55719336
NM_000136.3(FANCC):c.843+1G>A rs587779909
NM_000136.3(FANCC):c.844-1G>C rs774209201
NM_000136.3(FANCC):c.934A>G (p.Ile312Val) rs1800366
NM_000136.3(FANCC):c.996+1G>A rs370510954
NM_001018115.2(FANCD2):c.904C>T (p.Arg302Trp) rs121917787
NM_001113378.1(FANCI):c.2509G>T (p.Glu837Ter) rs748000458
NM_001114636.1(FANCL):c.2T>C (p.Met1Thr) rs761291501
NM_004629.1(FANCG):c.1480+1G>C rs149616199
NM_004629.1(FANCG):c.1538G>A (p.Arg513Gln) rs17885240
NM_004629.1(FANCG):c.307+1G>C rs200479612
NM_004629.1(FANCG):c.890C>T (p.Thr297Ile) rs2237857
NM_004629.2(FANCG):c.1158dup (p.Ser387fs) rs757418016
NM_005431.2(XRCC2):c.223G>C (p.Glu75Gln) rs1327414828
NM_005431.2(XRCC2):c.283A>G (p.Ile95Val) rs140214637
NM_005431.2(XRCC2):c.354G>A (p.Val118=) rs558977371
NM_005431.2(XRCC2):c.620A>G (p.Glu207Gly) rs61762969
NM_005431.2(XRCC2):c.643C>T (p.Arg215Ter) rs143153871
NM_005431.2(XRCC2):c.742C>G (p.Gln248Glu) rs190900560
NM_005431.2(XRCC2):c.808T>G (p.Phe270Val) rs145085742
NM_021922.2(FANCE):c.1071C>T (p.Leu357=) rs3823434
NM_021922.2(FANCE):c.1111C>T (p.Arg371Trp) rs775076977
NM_021922.2(FANCE):c.1114-8G>A rs878854342
NM_021922.2(FANCE):c.1316+19G>A rs6457823
NM_021922.2(FANCE):c.1504G>A (p.Ala502Thr) rs9462088
NM_021922.2(FANCE):c.387A>C (p.Pro129=) rs4713867
NM_021922.2(FANCE):c.611C>T (p.Ser204Leu) rs7761870
NM_021922.2(FANCE):c.900+39A>G rs13214239
NM_022725.3(FANCF):c.825G>A (p.Leu275=) rs36045913
NM_024675.3(PALB2):c.1000T>G (p.Tyr334Asp) rs202241382
NM_024675.3(PALB2):c.1001A>G (p.Tyr334Cys) rs200620434
NM_024675.3(PALB2):c.1027C>T (p.Gln343Ter) rs180177097
NM_024675.3(PALB2):c.1194G>A (p.Val398=) rs61755173
NM_024675.3(PALB2):c.11C>T (p.Pro4Leu) rs45619737
NM_024675.3(PALB2):c.1273G>A (p.Val425Met) rs576081828
NM_024675.3(PALB2):c.1285A>G (p.Ile429Val) rs1555461360
NM_024675.3(PALB2):c.1317G>A (p.Gly439=) rs515726066
NM_024675.3(PALB2):c.1376A>G (p.Asp459Gly) rs1031787378
NM_024675.3(PALB2):c.1380A>G (p.Gln460=) rs372641262
NM_024675.3(PALB2):c.1419A>C (p.Pro473=) rs62625275
NM_024675.3(PALB2):c.1431C>T (p.Thr477=) rs515726068
NM_024675.3(PALB2):c.1470C>T (p.Pro490=) rs45612837
NM_024675.3(PALB2):c.1492G>T (p.Asp498Tyr) rs75023630
NM_024675.3(PALB2):c.1572A>G (p.Ser524=) rs45472400
NM_024675.3(PALB2):c.1606C>T (p.Leu536=) rs151162255
NM_024675.3(PALB2):c.1646A>G (p.His549Arg) rs1597095334
NM_024675.3(PALB2):c.1653T>A (p.Tyr551Ter) rs118203997
NM_024675.3(PALB2):c.1697G>A (p.Arg566His) rs144617793
NM_024675.3(PALB2):c.1699C>T (p.His567Tyr) rs370422990
NM_024675.3(PALB2):c.1810C>T (p.Leu604=) rs144015319
NM_024675.3(PALB2):c.1881G>A (p.Val627=) rs139362268
NM_024675.3(PALB2):c.1881G>T (p.Val627=) rs139362268
NM_024675.3(PALB2):c.1924del (p.Met642fs) rs730881865
NM_024675.3(PALB2):c.1947dup (p.Glu650fs) rs515726075
NM_024675.3(PALB2):c.1955G>A (p.Ser652Asn) rs587781818
NM_024675.3(PALB2):c.196C>T (p.Gln66Ter) rs180177083
NM_024675.3(PALB2):c.2067G>A (p.Ser689=) rs371149159
NM_024675.3(PALB2):c.223A>T (p.Lys75Ter) rs1555461875
NM_024675.3(PALB2):c.2256A>G (p.Gly752=) rs147120218
NM_024675.3(PALB2):c.2277A>G (p.Gln759=) rs786202524
NM_024675.3(PALB2):c.2289G>C (p.Leu763Phe) rs373478248
NM_024675.3(PALB2):c.232G>A (p.Val78Ile) rs515726085
NM_024675.3(PALB2):c.2365C>T (p.Leu789=) rs145805054
NM_024675.3(PALB2):c.2386G>T (p.Gly796Ter) rs180177112
NM_024675.3(PALB2):c.2391del (p.Gln797fs) rs1555460360
NM_024675.3(PALB2):c.2418G>A (p.Pro806=) rs577076372
NM_024675.3(PALB2):c.2418G>T (p.Pro806=) rs577076372
NM_024675.3(PALB2):c.243G>A (p.Lys81=) rs1060502775
NM_024675.3(PALB2):c.2484C>T (p.Cys828=) rs875989798
NM_024675.3(PALB2):c.2505C>T (p.Ser835=) rs756502783
NM_024675.3(PALB2):c.2509G>A (p.Glu837Lys) rs587778587
NM_024675.3(PALB2):c.2559C>T (p.Gly853=) rs180177115
NM_024675.3(PALB2):c.2586+10A>G rs373321719
NM_024675.3(PALB2):c.2590C>T (p.Pro864Ser) rs45568339
NM_024675.3(PALB2):c.2607C>T (p.Ser869=) rs45542234
NM_024675.3(PALB2):c.2673C>T (p.Cys891=) rs78179744
NM_024675.3(PALB2):c.2674G>A (p.Glu892Lys) rs45476495
NM_024675.3(PALB2):c.2747_2748+4del rs786203892
NM_024675.3(PALB2):c.2749-18C>T rs182194007
NM_024675.3(PALB2):c.2784G>A (p.Val928=) rs763411245
NM_024675.3(PALB2):c.2794G>A (p.Val932Met) rs45624036
NM_024675.3(PALB2):c.2834+1G>T rs587776419
NM_024675.3(PALB2):c.2835-1G>C rs515726099
NM_024675.3(PALB2):c.2851T>C (p.Ser951Pro) rs149522412
NM_024675.3(PALB2):c.2881C>T (p.Leu961=) rs61755166
NM_024675.3(PALB2):c.2962C>T (p.Gln988Ter) rs118203999
NM_024675.3(PALB2):c.2982dup (p.Ala995fs) rs180177127
NM_024675.3(PALB2):c.298C>T (p.Leu100Phe) rs61756147
NM_024675.3(PALB2):c.3053A>C (p.Glu1018Ala) rs1567212910
NM_024675.3(PALB2):c.3054G>C (p.Glu1018Asp) rs183489969
NM_024675.3(PALB2):c.3113+5G>C rs876659463
NM_024675.3(PALB2):c.3113G>A (p.Trp1038Ter) rs180177132
NM_024675.3(PALB2):c.3116del (p.Asn1039fs) rs180177133
NM_024675.3(PALB2):c.3201+1G>C rs587776423
NM_024675.3(PALB2):c.3249G>C (p.Glu1083Asp) rs147045425
NM_024675.3(PALB2):c.3256C>T (p.Arg1086Ter) rs587776527
NM_024675.3(PALB2):c.3297G>C (p.Thr1099=) rs45565738
NM_024675.3(PALB2):c.3307G>A (p.Val1103Met) rs201657283
NM_024675.3(PALB2):c.3324C>G (p.Tyr1108Ter) rs1218512317
NM_024675.3(PALB2):c.3362del (p.Gly1121fs) rs515726117
NM_024675.3(PALB2):c.344G>T (p.Gly115Val) rs145598272
NM_024675.3(PALB2):c.3495G>A (p.Ser1165=) rs45439097
NM_024675.3(PALB2):c.3500C>T (p.Thr1167Ile) rs1308784980
NM_024675.3(PALB2):c.3549C>G (p.Tyr1183Ter) rs118203998
NM_024675.3(PALB2):c.400G>A (p.Asp134Asn) rs139555085
NM_024675.3(PALB2):c.459G>A (p.Arg153=) rs876658633
NM_024675.3(PALB2):c.48G>A (p.Lys16=) rs587776405
NM_024675.3(PALB2):c.49-2A>T rs786203245
NM_024675.3(PALB2):c.495C>T (p.Gly165=) rs200937538
NM_024675.3(PALB2):c.503C>A (p.Ser168Ter) rs515726122
NM_024675.3(PALB2):c.53A>G (p.Lys18Arg) rs138789658
NM_024675.3(PALB2):c.629C>T (p.Pro210Leu) rs57605939
NM_024675.3(PALB2):c.721A>G (p.Asn241Asp) rs113217267
NM_024675.3(PALB2):c.734C>T (p.Ala245Val) rs571063157
NM_024675.3(PALB2):c.758dup (p.Ser254fs) rs515726126
NM_024675.3(PALB2):c.820dup (p.Thr274fs) rs1555461611
NM_024675.3(PALB2):c.909C>T (p.Leu303=) rs145788619
NM_024675.3(PALB2):c.94C>G (p.Leu32Val) rs151316635
NM_024675.3(PALB2):c.999C>T (p.Thr333=) rs180177096
NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg) rs749494645
NM_024675.4(PALB2):c.1544A>G (p.Lys515Arg) rs515726072
NM_024675.4(PALB2):c.172_175del (p.Gln60fs) rs180177143
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln) rs45532440
NM_024675.4(PALB2):c.2055A>G (p.Lys685=) rs1597090304
NM_024675.4(PALB2):c.2258G>A (p.Arg753Gln) rs587778586
NM_024675.4(PALB2):c.2379C>T (p.Gly793=) rs377626805
NM_024675.4(PALB2):c.23C>T (p.Pro8Leu) rs150390726
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192
NM_024675.4(PALB2):c.3049G>A (p.Ala1017Thr)
NM_024675.4(PALB2):c.3056T>C (p.Val1019Ala) rs376619846
NM_024675.4(PALB2):c.3257G>A (p.Arg1086Gln) rs146377793
NM_024675.4(PALB2):c.3426_3429del (p.Leu1142fs) rs587776424
NM_024675.4(PALB2):c.3504C>G (p.Asp1168Glu)
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs) rs587776428
NM_024675.4(PALB2):c.656A>G (p.Asp219Gly) rs45594034
NM_024675.4(PALB2):c.93dup (p.Leu32fs) rs864622498
NM_032043.2(BRIP1):c.1194C>T (p.Ile398=) rs757427498
NM_032043.2(BRIP1):c.1442G>A (p.Gly481Asp) rs200062099
NM_032043.2(BRIP1):c.1628+5G>A rs754929230
NM_032043.2(BRIP1):c.2232C>T (p.Asp744=) rs374362388
NM_032043.2(BRIP1):c.225C>T (p.Gly75=) rs186802750
NM_032043.2(BRIP1):c.2273dup (p.Ala759fs) rs587780236
NM_032043.2(BRIP1):c.2324A>G (p.Asn775Ser) rs571108955
NM_032043.2(BRIP1):c.3567T>C (p.Asp1189=) rs764848326
NM_032043.2(BRIP1):c.3717C>T (p.Ser1239=) rs758809865
NM_032043.2(BRIP1):c.408A>G (p.Ala136=) rs876660891
NM_032043.2(BRIP1):c.430G>A (p.Ala144Thr) rs116952709
NM_032043.2(BRIP1):c.587A>G (p.Asn196Ser) rs550707862
NM_032043.3(BRIP1):c.1941G>C (p.Trp647Cys) rs786202760
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys) rs201869624
NM_032043.3(BRIP1):c.2755T>C (p.Ser919Pro) rs4986764
NM_032043.3(BRIP1):c.2830C>G (p.Gln944Glu) rs140233356
NM_032043.3(BRIP1):c.2854A>G (p.Ile952Val) rs200239986
NM_032444.4(SLX4):c.*8A>G rs3751839
NM_032444.4(SLX4):c.1152A>G (p.Pro384=) rs112511042
NM_032444.4(SLX4):c.1153C>A (p.Pro385Thr) rs115694169
NM_032444.4(SLX4):c.1156A>G (p.Met386Val) rs113490934
NM_032444.4(SLX4):c.1163+10C>T rs80116508
NM_032444.4(SLX4):c.1366+11T>C rs76350200
NM_032444.4(SLX4):c.1371T>G (p.Asn457Lys) rs74319927
NM_032444.4(SLX4):c.1372A>G (p.Lys458Glu) rs149126845
NM_032444.4(SLX4):c.1755C>T (p.Pro585=) rs114016359
NM_032444.4(SLX4):c.1803G>A (p.Ser601=) rs144892556
NM_032444.4(SLX4):c.1925-30G>A rs149916101
NM_032444.4(SLX4):c.2012T>C (p.Leu671Ser) rs77985244
NM_032444.4(SLX4):c.2013+23G>A rs112226642
NM_032444.4(SLX4):c.2160+50C>T rs75762935
NM_032444.4(SLX4):c.2359G>A (p.Glu787Lys) rs140600202
NM_032444.4(SLX4):c.2681T>G (p.Val894Gly) rs145137472
NM_032444.4(SLX4):c.2786C>T (p.Pro929Leu) rs117707719
NM_032444.4(SLX4):c.2824G>C (p.Glu942Gln) rs114014006
NM_032444.4(SLX4):c.2924C>T (p.Pro975Leu) rs114472821
NM_032444.4(SLX4):c.3162G>A (p.Ser1054=) rs76488917
NM_032444.4(SLX4):c.3365C>T (p.Pro1122Leu) rs714181
NM_032444.4(SLX4):c.3368C>A (p.Ser1123Tyr) rs144647122
NM_032444.4(SLX4):c.3662C>T (p.Ala1221Val) rs3827530
NM_032444.4(SLX4):c.3783G>A (p.Pro1261=) rs77699867
NM_032444.4(SLX4):c.3812C>T (p.Ser1271Phe) rs3810813
NM_032444.4(SLX4):c.3963G>A (p.Pro1321=) rs116781836
NM_032444.4(SLX4):c.4261A>T (p.Ile1421Phe) rs141567438
NM_032444.4(SLX4):c.4500T>C (p.Asn1500=) rs3810812
NM_032444.4(SLX4):c.4581G>A (p.Pro1527=) rs78635099
NM_032444.4(SLX4):c.5501A>G (p.Asn1834Ser) rs111738042
NM_032444.4(SLX4):c.555C>T (p.Asp185=) rs74640850
NM_032444.4(SLX4):c.590T>C (p.Val197Ala) rs147826749
NM_032444.4(SLX4):c.610C>T (p.Arg204Cys) rs79842542
NM_032444.4(SLX4):c.678C>T (p.His226=) rs28516461
NM_032444.4(SLX4):c.710G>A (p.Arg237Gln) rs138615800
NM_032444.4(SLX4):c.753G>A (p.Ala251=) rs8061528
NM_032444.4(SLX4):c.90C>T (p.Ser30=) rs118089506
NM_033084.5(FANCD2):c.1367T>G (p.Leu456Arg) rs35782247
NM_058216.3(RAD51C):c.*25C>G rs28363336
NM_058216.3(RAD51C):c.1097G>A (p.Arg366Gln) rs577852020
NM_058216.3(RAD51C):c.145+12T>G rs377297129
NM_058216.3(RAD51C):c.146-8A>G rs201079501
NM_058216.3(RAD51C):c.154A>C (p.Ile52Leu) rs730881927
NM_058216.3(RAD51C):c.195A>G (p.Arg65=) rs45511291
NM_058216.3(RAD51C):c.428A>G (p.Gln143Arg) rs587780255
NM_058216.3(RAD51C):c.458G>A (p.Gly153Asp) rs765730332
NM_058216.3(RAD51C):c.502A>T (p.Arg168Ter) rs587781490
NM_058216.3(RAD51C):c.666A>G (p.Gln222=) rs1567794382
NM_058216.3(RAD51C):c.706-2A>G rs587780259
NM_058216.3(RAD51C):c.773G>A (p.Arg258His) rs267606997
NM_058216.3(RAD51C):c.774del (p.Thr259fs) rs754367349
NM_058216.3(RAD51C):c.7G>A (p.Gly3Arg) rs376403182
NM_058216.3(RAD51C):c.904+5G>T rs587782702
NM_058216.3(RAD51C):c.905-2_905-1del rs587781995
NM_058216.3(RAD51C):c.9G>C (p.Gly3=) rs751117852
NM_173472.2(FANCD2OS):c.44-8784C>T rs121917786

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