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
923 445 0 330 133 6 111 557

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 0 158 30 10 12 6
likely pathogenic 52 0 18 2 0 0
uncertain significance 36 25 0 65 41 0
likely benign 0 1 31 0 80 0
benign 0 0 14 40 0 0

Submitter to submitter summary #

Total submitters: 65
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 0 327 0 85 45 0 68 198
GeneDx 0 132 0 80 60 0 15 155
PreventionGenetics, part of Exact Sciences 0 47 0 52 27 0 6 85
Counsyl 0 68 0 62 1 0 12 75
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 65 0 25 22 0 4 51
Baylor Genetics 0 172 0 34 0 0 13 47
Genetic Services Laboratory, University of Chicago 0 28 0 21 16 0 6 43
Myriad Genetics, Inc. 0 70 0 19 12 0 4 35
Quest Diagnostics Nichols Institute San Juan Capistrano 0 55 0 10 20 0 4 34
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 16 0 26 3 0 0 29
Fulgent Genetics, Fulgent Genetics 0 50 0 19 1 0 8 28
CeGaT Center for Human Genetics Tuebingen 0 39 0 12 13 0 3 28
Natera, Inc. 0 39 0 6 5 0 13 24
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 9 0 14 9 0 1 24
Illumina Laboratory Services, Illumina 0 9 0 4 6 0 12 22
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 22 0 12 5 0 1 18
Revvity Omics, Revvity 0 28 0 11 1 0 4 16
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 22 0 2 10 0 4 16
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 32 0 10 5 0 1 16
Cancer Genetics Laboratory, Peter MacCallum Cancer Centre 0 10 0 9 6 0 0 15
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 26 0 11 2 0 0 13
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 13 0 6 5 0 1 12
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 10 0 7 4 0 1 12
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 13 0 6 3 0 2 11
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 1 0 1 6 0 4 11
Sema4, Sema4 0 4 0 2 1 0 7 10
Eurofins Ntd Llc (ga) 0 12 0 5 3 0 2 10
Mendelics 0 15 0 5 3 0 1 9
OMIM 0 51 0 1 0 6 1 8
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 18 0 7 1 0 0 8
ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Variant Curation Expert Panel, ClinGen 0 2 0 4 2 0 1 7
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 3 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
Genome-Nilou Lab 0 0 0 0 3 0 2 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 3 0 2 2 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 12 0 4 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 17 0 3 0 0 1 4
Clinical Genetics, Academic Medical Center 0 4 0 2 1 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 5 0 1 2 0 0 3
MGZ Medical Genetics Center 0 5 0 1 0 0 1 2
GeneKor MSA 0 1 0 2 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 4 0 2 0 0 0 2
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 3 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
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 0 1 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 0 1 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 0 0 0 1 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
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 0 0 0 1 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1 1
Daryl Scott Lab, Baylor College of Medicine 0 2 0 0 0 0 1 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 0 1 1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 0 2 0 1 0 0 0 1
Sharon lab, Hadassah-Hebrew University Medical Center 0 3 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 0 0 1 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 2 0 0 1 0 0 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
Istanbul Faculty of Medicine, Istanbul University 0 1 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 557
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000322.5(PRPH2):c.929G>A (p.Arg310Lys) rs425876 0.92861
NM_000322.5(PRPH2):c.910C>G (p.Gln304Glu) rs390659 0.78498
NM_032444.4(SLX4):c.4500T>C (p.Asn1500=) rs3810812 0.63612
NM_021922.3(FANCE):c.248+58A>C rs9470029 0.61786
NM_032043.3(BRIP1):c.2755T>C (p.Ser919Pro) rs4986764 0.61453
NM_000322.5(PRPH2):c.318T>C (p.Val106=) rs7764439 0.59853
NM_000322.5(PRPH2):c.582-67T>A rs3818086 0.56178
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser) rs2239359 0.51262
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp) rs7195066 0.46389
NM_021922.3(FANCE):c.900+39A>G rs13214239 0.42135
NM_000322.5(PRPH2):c.582-85G>A rs34722725 0.25301
NM_000322.5(PRPH2):c.829-48C>T rs41273820 0.22114
NM_032444.4(SLX4):c.753G>A (p.Ala251=) rs8061528 0.21914
NM_032444.4(SLX4):c.3365C>T (p.Pro1122Leu) rs714181 0.20566
NM_000136.3(FANCC):c.250+220G>A rs356667 0.18637
NM_058216.3(RAD51C):c.-26C>T rs12946397 0.18608
NM_021922.3(FANCE):c.1504G>A (p.Ala502Thr) rs9462088 0.14730
NM_021922.3(FANCE):c.856-70G>A rs9470033 0.14674
NM_021922.3(FANCE):c.1316+19G>A rs6457823 0.14669
NM_032444.4(SLX4):c.4739+24G>T rs12933120 0.09148
NM_021922.3(FANCE):c.970-84T>C rs3800376 0.08678
NM_032444.4(SLX4):c.1366+11T>C rs76350200 0.08654
NM_032444.4(SLX4):c.*8A>G rs3751839 0.08334
NM_032444.4(SLX4):c.2012T>C (p.Leu671Ser) rs77985244 0.07388
NM_032444.4(SLX4):c.2013+137G>C rs80186343 0.07384
NM_032444.4(SLX4):c.610C>T (p.Arg204Cys) rs79842542 0.07023
NM_032444.4(SLX4):c.1371T>G (p.Asn457Lys) rs74319927 0.06397
NM_032444.4(SLX4):c.1152A>G (p.Pro384=) rs112511042 0.06386
NM_032444.4(SLX4):c.1156A>G (p.Met386Val) rs113490934 0.06384
NM_032444.4(SLX4):c.2013+23G>A rs112226642 0.06373
NM_032444.4(SLX4):c.2160+50C>T rs75762935 0.06369
NM_000135.4(FANCA):c.3982A>G (p.Thr1328Ala) rs9282681 0.05868
NM_032444.4(SLX4):c.4637-227C>T rs75693937 0.05798
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe) rs17233497 0.05303
NM_032444.4(SLX4):c.*113C>T rs76661336 0.04982
NM_000135.4(FANCA):c.542C>T (p.Ala181Val) rs17232246 0.04972
NM_032444.4(SLX4):c.555C>T (p.Asp185=) rs74640850 0.04956
NM_032444.4(SLX4):c.3662C>T (p.Ala1221Val) rs3827530 0.04930
NM_032444.4(SLX4):c.678C>T (p.His226=) rs28516461 0.04916
NM_032444.4(SLX4):c.3812C>T (p.Ser1271Phe) rs3810813 0.04718
NM_000135.4(FANCA):c.24C>G (p.Asn8Lys) rs76275444 0.04436
NM_021922.3(FANCE):c.611C>T (p.Ser204Leu) rs7761870 0.03770
NM_000136.3(FANCC):c.*116A>C rs7048910 0.03439
NM_032444.4(SLX4):c.3162G>A (p.Ser1054=) rs76488917 0.03405
NM_004629.2(FANCG):c.890C>T (p.Thr297Ile) rs2237857 0.02968
NM_001018115.3(FANCD2):c.1367T>G (p.Leu456Arg) rs35782247 0.02918
NM_000135.4(FANCA):c.3348+18A>G rs1800347 0.02828
NM_024675.4(PALB2):c.3300T>G (p.Thr1100=) rs45516100 0.02529
NM_000136.3(FANCC):c.408A>G (p.Gln136=) rs1800360 0.02397
NM_021922.3(FANCE):c.1071C>T (p.Leu357=) rs3823434 0.02388
NM_032444.4(SLX4):c.3783G>A (p.Pro1261=) rs77699867 0.02290
NM_032444.4(SLX4):c.4581G>A (p.Pro1527=) rs78635099 0.02283
NM_032444.4(SLX4):c.4637-110T>C rs74005837 0.02262
NM_000136.3(FANCC):c.1345G>A (p.Val449Met) rs1800367 0.02254
NM_000135.4(FANCA):c.2151G>T (p.Met717Ile) rs1131660 0.02234
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln) rs45532440 0.02171
NM_024675.4(PALB2):c.629C>T (p.Pro210Leu) rs57605939 0.02101
NM_022725.4(FANCF):c.825G>A (p.Leu275=) rs36045913 0.01879
NM_032444.4(SLX4):c.2824G>C (p.Glu942Gln) rs114014006 0.01879
NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu) rs45551636 0.01717
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser) rs45494092 0.01508
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu) rs1800362 0.01494
NM_000136.3(FANCC):c.686+30C>T rs1800363 0.01287
NM_032444.4(SLX4):c.999C>T (p.Ile333=) rs7198338 0.00974
NM_032444.4(SLX4):c.1153C>A (p.Pro385Thr) rs115694169 0.00968
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln) rs17885240 0.00863
NM_032444.4(SLX4):c.710G>A (p.Arg237Gln) rs138615800 0.00848
NM_032444.4(SLX4):c.3963G>A (p.Pro1321=) rs116781836 0.00774
NM_032444.4(SLX4):c.2924C>T (p.Pro975Leu) rs114472821 0.00679
NM_032444.4(SLX4):c.1803G>A (p.Ser601=) rs144892556 0.00649
NM_032444.4(SLX4):c.1925-30G>A rs149916101 0.00641
NM_032444.4(SLX4):c.1755C>T (p.Pro585=) rs114016359 0.00638
NM_032444.4(SLX4):c.90C>T (p.Ser30=) rs118089506 0.00612
NM_032444.4(SLX4):c.5501A>G (p.Asn1834Ser) rs111738042 0.00575
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141 0.00567
NM_024675.4(PALB2):c.53A>G (p.Lys18Arg) rs138789658 0.00530
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361 0.00511
NM_024675.4(PALB2):c.2794G>A (p.Val932Met) rs45624036 0.00449
NM_000322.5(PRPH2):c.133C>T (p.Leu45Phe) rs61755770 0.00414
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp) rs17227403 0.00362
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg) rs1800368 0.00361
NM_024675.4(PALB2):c.1572A>G (p.Ser524=) rs45472400 0.00312
NM_024675.4(PALB2):c.1419A>C (p.Pro473=) rs62625275 0.00309
NM_032444.4(SLX4):c.3857C>T (p.Ala1286Val) rs149011965 0.00302
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser) rs45568339 0.00287
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751 0.00230
NM_032444.4(SLX4):c.4648C>T (p.Arg1550Trp) rs77021998 0.00214
NM_005431.2(XRCC2):c.808T>G (p.Phe270Val) rs145085742 0.00205
NM_024675.4(PALB2):c.1810C>T (p.Leu604=) rs144015319 0.00202
NM_024675.4(PALB2):c.721A>G (p.Asn241Asp) rs113217267 0.00202
NM_024675.4(PALB2):c.1606C>T (p.Leu536=) rs151162255 0.00193
NM_024675.4(PALB2):c.2256A>G (p.Gly752=) rs147120218 0.00193
NM_024675.4(PALB2):c.400G>A (p.Asp134Asn) rs139555085 0.00160
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg) rs140781259 0.00126
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu) rs149112292 0.00125
NM_032444.4(SLX4):c.2359G>A (p.Glu787Lys) rs140600202 0.00125
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192 0.00121
NM_024675.4(PALB2):c.3495G>A (p.Ser1165=) rs45439097 0.00121
NM_058216.3(RAD51C):c.195A>G (p.Arg65=) rs45511291 0.00105
NM_024675.4(PALB2):c.1194G>A (p.Val398=) rs61755173 0.00103
NM_024675.4(PALB2):c.909C>T (p.Leu303=) rs145788619 0.00101
NM_024675.4(PALB2):c.2365C>T (p.Leu789=) rs145805054 0.00099
NM_001113525.2(ZNF276):c.*841G>A rs191404781 0.00092
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441 0.00091
NM_032444.4(SLX4):c.1372A>G (p.Lys458Glu) rs149126845 0.00087
NM_000322.5(PRPH2):c.866C>T (p.Ser289Leu) rs62645939 0.00079
NM_032444.4(SLX4):c.2786C>T (p.Pro929Leu) rs117707719 0.00078
NM_000136.3(FANCC):c.816C>T (p.Ile272=) rs55719336 0.00074
NM_058216.3(RAD51C):c.146-8A>G rs201079501 0.00074
NM_032444.4(SLX4):c.4261A>T (p.Ile1421Phe) rs141567438 0.00069
NM_000322.5(PRPH2):c.708C>T (p.Tyr236=) rs61755813 0.00062
NM_024675.4(PALB2):c.2996+17T>C rs180177128 0.00060
NM_024675.4(PALB2):c.2851T>C (p.Ser951Pro) rs149522412 0.00058
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr) rs17227396 0.00056
NM_024675.4(PALB2):c.2749-18C>T rs182194007 0.00055
NM_032043.3(BRIP1):c.430G>A (p.Ala144Thr) rs116952709 0.00055
NM_000136.3(FANCC):c.934A>G (p.Ile312Val) rs1800366 0.00051
NM_024675.4(PALB2):c.23C>T (p.Pro8Leu) rs150390726 0.00051
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp) rs143671872 0.00047
NM_000136.3(FANCC):c.705C>T (p.Pro235=) rs141828876 0.00046
NM_000322.5(PRPH2):c.938C>T (p.Pro313Leu) rs61748434 0.00044
NM_032444.4(SLX4):c.2681T>G (p.Val894Gly) rs145137472 0.00036
NM_024675.4(PALB2):c.1470C>T (p.Pro490=) rs45612837 0.00035
NM_032444.4(SLX4):c.3368C>A (p.Ser1123Tyr) rs144647122 0.00031
NM_024675.4(PALB2):c.1000T>G (p.Tyr334Asp) rs202241382 0.00026
NM_058216.3(RAD51C):c.145+12T>G rs377297129 0.00024
NM_024675.4(PALB2):c.298C>T (p.Leu100Phe) rs61756147 0.00021
NM_024675.4(PALB2):c.656A>G (p.Asp219Gly) rs45594034 0.00021
NM_024675.4(PALB2):c.1492G>T (p.Asp498Tyr) rs75023630 0.00020
NM_000322.5(PRPH2):c.367C>T (p.Arg123Trp) rs563581127 0.00019
NM_000322.5(PRPH2):c.1015G>A (p.Ala339Thr) rs760687443 0.00018
NM_000322.5(PRPH2):c.37C>T (p.Arg13Trp) rs61754402 0.00018
NM_032043.3(BRIP1):c.587A>G (p.Asn196Ser) rs550707862 0.00017
NM_005431.2(XRCC2):c.283A>G (p.Ile95Val) rs140214637 0.00016
NM_024675.4(PALB2):c.3054G>C (p.Glu1018Asp) rs183489969 0.00016
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys) rs201869624 0.00016
NM_032444.4(SLX4):c.3315C>T (p.Ser1105=) rs183029626 0.00015
NM_024675.4(PALB2):c.2586+10A>G rs373321719 0.00014
NM_005431.2(XRCC2):c.620A>G (p.Glu207Gly) rs61762969 0.00013
NM_024675.4(PALB2):c.232G>A (p.Val78Ile) rs515726085 0.00013
NM_024675.4(PALB2):c.3257G>A (p.Arg1086Gln) rs146377793 0.00013
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter) rs761341952 0.00012
NM_005431.2(XRCC2):c.354G>A (p.Val118=) rs558977371 0.00012
NM_032043.3(BRIP1):c.3069C>T (p.Leu1023=) rs61754142 0.00012
NM_000322.5(PRPH2):c.781C>T (p.Leu261Phe) rs150381599 0.00011
NM_024675.4(PALB2):c.1250C>A (p.Ser417Tyr) rs45510998 0.00011
NM_058216.3(RAD51C):c.*25C>G rs28363336 0.00011
NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp) rs139185976 0.00010
NM_024675.4(PALB2):c.11C>T (p.Pro4Leu) rs45619737 0.00010
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_024675.4(PALB2):c.1431C>T (p.Thr477=) rs515726068 0.00009
NM_024675.4(PALB2):c.1544A>G (p.Lys515Arg) rs515726072 0.00009
NM_024675.4(PALB2):c.2379C>T (p.Gly793=) rs377626805 0.00009
NM_024675.4(PALB2):c.3251C>T (p.Ser1084Leu) rs62625271 0.00009
NM_024675.4(PALB2):c.344G>T (p.Gly115Val) rs145598272 0.00009
NM_024675.4(PALB2):c.3508C>T (p.His1170Tyr) rs200283306 0.00009
NM_024675.4(PALB2):c.2509G>A (p.Glu837Lys) rs587778587 0.00008
NM_024675.4(PALB2):c.3056T>C (p.Val1019Ala) rs376619846 0.00008
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457 0.00007
NM_024675.4(PALB2):c.2200A>T (p.Thr734Ser) rs45543843 0.00007
NM_000135.4(FANCA):c.3031C>T (p.Arg1011Cys) rs142377616 0.00006
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly) rs149277003 0.00006
NM_000322.5(PRPH2):c.44A>G (p.Lys15Arg) rs555112175 0.00006
NM_000322.5(PRPH2):c.923T>A (p.Leu308Gln) rs762660751 0.00006
NM_005431.2(XRCC2):c.643C>T (p.Arg215Ter) rs143153871 0.00006
NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys) rs200620434 0.00006
NM_024675.4(PALB2):c.1273G>A (p.Val425Met) rs576081828 0.00006
NM_024675.4(PALB2):c.765T>C (p.Asp255=) rs45465299 0.00006
NM_032043.3(BRIP1):c.1356C>T (p.Asn452=) rs730881640 0.00006
NM_032043.3(BRIP1):c.2232C>T (p.Asp744=) rs374362388 0.00006
NM_058216.3(RAD51C):c.428A>G (p.Gln143Arg) rs587780255 0.00006
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398 0.00005
NM_001113378.2(FANCI):c.3853C>T (p.Arg1285Ter) rs121918164 0.00005
NM_024675.4(PALB2):c.3249G>C (p.Glu1083Asp) rs147045425 0.00005
NM_032043.3(BRIP1):c.3567T>C (p.Asp1189=) rs764848326 0.00005
NM_032444.4(SLX4):c.3019C>A (p.Gln1007Lys) rs138798067 0.00005
NM_000135.4(FANCA):c.4015del (p.Leu1339fs) rs762902309 0.00004
NM_000136.3(FANCC):c.521+1G>A rs145394391 0.00004
NM_000322.5(PRPH2):c.271T>A (p.Tyr91Asn) rs747893076 0.00004
NM_005431.2(XRCC2):c.581C>T (p.Thr194Met) rs775565256 0.00004
NM_021922.3(FANCE):c.1111C>T (p.Arg371Trp) rs775076977 0.00004
NM_024675.4(PALB2):c.13C>T (p.Pro5Ser) rs377085677 0.00004
NM_024675.4(PALB2):c.1699C>T (p.His567Tyr) rs370422990 0.00004
NM_024675.4(PALB2):c.2067G>A (p.Ser689=) rs371149159 0.00004
NM_024675.4(PALB2):c.2289G>C (p.Leu763Phe) rs373478248 0.00004
NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro) rs149364097 0.00004
NM_058216.3(RAD51C):c.774del (p.Thr259fs) rs754367349 0.00004
NM_000322.5(PRPH2):c.380A>G (p.Glu127Gly) rs543703718 0.00003
NM_000322.5(PRPH2):c.425G>A (p.Arg142Gln) rs554945964 0.00003
NM_000322.5(PRPH2):c.927G>T (p.Glu309Asp) rs759011231 0.00003
NM_000322.5(PRPH2):c.946T>G (p.Trp316Gly) rs202230698 0.00003
NM_001113378.2(FANCI):c.3622_3623del (p.Leu1208fs) rs1491132258 0.00003
NM_024675.4(PALB2):c.1756G>A (p.Asp586Asn) rs587781954 0.00003
NM_024675.4(PALB2):c.1881G>A (p.Val627=) rs139362268 0.00003
NM_024675.4(PALB2):c.212-33A>C rs515726079 0.00003
NM_024675.4(PALB2):c.2136G>A (p.Ala712=) rs905951607 0.00003
NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg) rs142132127 0.00003
NM_024675.4(PALB2):c.94C>G (p.Leu32Val) rs151316635 0.00003
NM_032043.3(BRIP1):c.2324A>G (p.Asn775Ser) rs571108955 0.00003
NM_032043.3(BRIP1):c.2543G>A (p.Arg848His) rs374334794 0.00003
NM_032043.3(BRIP1):c.2830C>G (p.Gln944Glu) rs140233356 0.00003
NM_032043.3(BRIP1):c.2854A>G (p.Ile952Val) rs200239986 0.00003
NM_032444.4(SLX4):c.4089_4090del (p.Asp1365fs) rs748930384 0.00003
NM_058216.3(RAD51C):c.7G>A (p.Gly3Arg) rs376403182 0.00003
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys) rs148473140 0.00002
NM_000135.4(FANCA):c.2778+1G>A rs140180549 0.00002
NM_000135.4(FANCA):c.3316G>A (p.Glu1106Lys) rs777825824 0.00002
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) rs104886458 0.00002
NM_000136.3(FANCC):c.520C>T (p.Arg174Ter) rs781542763 0.00002
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter) rs377294947 0.00002
NM_000136.3(FANCC):c.843+1G>A rs587779909 0.00002
NM_000322.5(PRPH2):c.409G>A (p.Gly137Ser) rs781256236 0.00002
NM_000322.5(PRPH2):c.454A>G (p.Met152Val) rs146703538 0.00002
NM_000322.5(PRPH2):c.464C>T (p.Thr155Ile) rs199572514 0.00002
NM_000322.5(PRPH2):c.625G>A (p.Val209Ile) rs753657349 0.00002
NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg) rs749494645 0.00002
NM_024675.4(PALB2):c.1955G>A (p.Ser652Asn) rs587781818 0.00002
NM_024675.4(PALB2):c.2319T>C (p.Thr773=) rs562168734 0.00002
NM_024675.4(PALB2):c.2418G>A (p.Pro806=) rs577076372 0.00002
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter) rs180177132 0.00002
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter) rs587776527 0.00002
NM_024675.4(PALB2):c.3356T>C (p.Leu1119Pro) rs515726116 0.00002
NM_024675.4(PALB2):c.3432C>T (p.Leu1144=) rs748363227 0.00002
NM_024675.4(PALB2):c.746C>T (p.Pro249Leu) rs759810283 0.00002
NM_024675.4(PALB2):c.807T>C (p.Gly269=) rs180177093 0.00002
NM_024675.4(PALB2):c.897T>C (p.Ser299=) rs180177095 0.00002
NM_024675.4(PALB2):c.995T>A (p.Leu332His) rs377149139 0.00002
NM_058216.3(RAD51C):c.706-2A>G rs587780259 0.00002
NM_058216.3(RAD51C):c.773G>A (p.Arg258His) rs267606997 0.00002
NM_000135.4(FANCA):c.1153C>T (p.His385Tyr) rs757760966 0.00001
NM_000135.4(FANCA):c.1226-2A>G rs773906241 0.00001
NM_000135.4(FANCA):c.1944del (p.Glu648fs) rs1555549451 0.00001
NM_000135.4(FANCA):c.2026C>T (p.Gln676Ter) rs1448463647 0.00001
NM_000135.4(FANCA):c.2051T>C (p.Leu684Pro) rs762526878 0.00001
NM_000135.4(FANCA):c.2233dup (p.Trp745fs) rs2039278551 0.00001
NM_000135.4(FANCA):c.2303T>C (p.Leu768Pro) rs1490352414 0.00001
NM_000135.4(FANCA):c.2534T>C (p.Leu845Pro) rs1173704265 0.00001
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro) rs780825099 0.00001
NM_000135.4(FANCA):c.2853-2A>C rs947311062 0.00001
NM_000135.4(FANCA):c.3382C>G (p.Gln1128Glu) rs1439817346 0.00001
NM_000135.4(FANCA):c.3766-2A>G rs1219402916 0.00001
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe) rs753700179 0.00001
NM_000135.4(FANCA):c.3971C>T (p.Pro1324Leu) rs182657062 0.00001
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys) rs745882980 0.00001
NM_000135.4(FANCA):c.597-1G>C rs147945881 0.00001
NM_000135.4(FANCA):c.709+5G>A rs759877008 0.00001
NM_000135.4(FANCA):c.793-3C>G rs749688050 0.00001
NM_000135.4(FANCA):c.811C>T (p.Gln271Ter) rs372163487 0.00001
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter) rs1291524243 0.00001
NM_000135.4(FANCA):c.894-2A>G rs976556567 0.00001
NM_000136.3(FANCC):c.1417C>T (p.Gln473Ter) rs1410356625 0.00001
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784 0.00001
NM_000322.5(PRPH2):c.299C>T (p.Pro100Leu) rs768400169 0.00001
NM_000322.5(PRPH2):c.374C>T (p.Ser125Leu) rs772861671 0.00001
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp) rs61755783 0.00001
NM_000322.5(PRPH2):c.537G>T (p.Trp179Cys) rs779414078 0.00001
NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu) rs61755806 0.00001
NM_000322.5(PRPH2):c.649A>G (p.Ser217Gly) rs767471467 0.00001
NM_000322.5(PRPH2):c.659G>A (p.Arg220Gln) rs61755810 0.00001
NM_000322.5(PRPH2):c.80C>T (p.Ser27Phe) rs61755766 0.00001
NM_000322.5(PRPH2):c.828+3A>T rs281865373 0.00001
NM_001018115.3(FANCD2):c.1279G>T (p.Val427Phe) rs529893298 0.00001
NM_001018115.3(FANCD2):c.1370T>C (p.Leu457Pro) rs1181436417 0.00001
NM_001018115.3(FANCD2):c.3707G>A (p.Arg1236His) rs121917786 0.00001
NM_001018115.3(FANCD2):c.491+1G>A rs943009372 0.00001
NM_001018115.3(FANCD2):c.782A>T (p.Lys261Met) rs778289599 0.00001
NM_001018115.3(FANCD2):c.904C>T (p.Arg302Trp) rs121917787 0.00001
NM_001113378.2(FANCI):c.2509G>T (p.Glu837Ter) rs748000458 0.00001
NM_001113378.2(FANCI):c.3006+3A>G rs1294973649 0.00001
NM_005431.2(XRCC2):c.223G>C (p.Glu75Gln) rs1327414828 0.00001
NM_005431.2(XRCC2):c.742C>G (p.Gln248Glu) rs190900560 0.00001
NM_018062.4(FANCL):c.2T>C (p.Met1Thr) rs761291501 0.00001
NM_021922.3(FANCE):c.1114-8G>A rs878854342 0.00001
NM_021922.3(FANCE):c.1510-1G>A rs772678337 0.00001
NM_024675.4(PALB2):c.1033T>C (p.Leu345=) rs786201393 0.00001
NM_024675.4(PALB2):c.1038A>G (p.Lys346=) rs515726059 0.00001
NM_024675.4(PALB2):c.1123C>A (p.Leu375Ile) rs373298267 0.00001
NM_024675.4(PALB2):c.1145G>T (p.Ser382Ile) rs515726063 0.00001
NM_024675.4(PALB2):c.127A>G (p.Lys43Glu) rs765125459 0.00001
NM_024675.4(PALB2):c.1380A>G (p.Gln460=) rs372641262 0.00001
NM_024675.4(PALB2):c.156del (p.Glu53fs) rs587776406 0.00001
NM_024675.4(PALB2):c.1653T>A (p.Tyr551Ter) rs118203997 0.00001
NM_024675.4(PALB2):c.1697G>A (p.Arg566His) rs144617793 0.00001
NM_024675.4(PALB2):c.196C>T (p.Gln66Ter) rs180177083 0.00001
NM_024675.4(PALB2):c.2258G>A (p.Arg753Gln) rs587778586 0.00001
NM_024675.4(PALB2):c.2277A>G (p.Gln759=) rs786202524 0.00001
NM_024675.4(PALB2):c.2386G>T (p.Gly796Ter) rs180177112 0.00001
NM_024675.4(PALB2):c.2505C>T (p.Ser835=) rs756502783 0.00001
NM_024675.4(PALB2):c.2559C>T (p.Gly853=) rs180177115 0.00001
NM_024675.4(PALB2):c.2619T>G (p.Ser873Arg) rs587782387 0.00001
NM_024675.4(PALB2):c.2673C>T (p.Cys891=) rs78179744 0.00001
NM_024675.4(PALB2):c.2784G>A (p.Val928=) rs763411245 0.00001
NM_024675.4(PALB2):c.2859T>C (p.Asp953=) rs515726101 0.00001
NM_024675.4(PALB2):c.2881C>T (p.Leu961=) rs61755166 0.00001
NM_024675.4(PALB2):c.3113+5G>C rs876659463 0.00001
NM_024675.4(PALB2):c.315G>C (p.Glu105Asp) rs515726108 0.00001
NM_024675.4(PALB2):c.3483T>C (p.Phe1161=) rs372686500 0.00001
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter) rs118203998 0.00001
NM_024675.4(PALB2):c.495C>T (p.Gly165=) rs200937538 0.00001
NM_024675.4(PALB2):c.734C>T (p.Ala245Val) rs571063157 0.00001
NM_024675.4(PALB2):c.758dup (p.Ser254fs) rs515726126 0.00001
NM_024675.4(PALB2):c.928A>G (p.Ser310Gly) rs45561331 0.00001
NM_032043.3(BRIP1):c.1018C>T (p.Leu340Phe) rs755796609 0.00001
NM_032043.3(BRIP1):c.1194C>T (p.Ile398=) rs757427498 0.00001
NM_032043.3(BRIP1):c.1442G>A (p.Gly481Asp) rs200062099 0.00001
NM_032043.3(BRIP1):c.225C>T (p.Gly75=) rs186802750 0.00001
NM_032043.3(BRIP1):c.2273dup (p.Ala759fs) rs587780236 0.00001
NM_032043.3(BRIP1):c.3717C>T (p.Ser1239=) rs758809865 0.00001
NM_032043.3(BRIP1):c.787C>T (p.Leu263Phe) rs1060501776 0.00001
NM_032444.4(SLX4):c.5081C>T (p.Ala1694Val) rs761226343 0.00001
NM_058216.3(RAD51C):c.1097G>A (p.Arg366Gln) rs577852020 0.00001
NM_058216.3(RAD51C):c.154A>C (p.Ile52Leu) rs730881927 0.00001
NM_058216.3(RAD51C):c.414G>C (p.Leu138Phe) rs267606999 0.00001
NM_058216.3(RAD51C):c.458G>A (p.Gly153Asp) rs765730332 0.00001
NM_058216.3(RAD51C):c.904+5G>T rs587782702 0.00001
NM_058216.3(RAD51C):c.905-2_905-1del rs587781995 0.00001
NM_058216.3(RAD51C):c.905-2del rs876658652 0.00001
NM_058216.3(RAD51C):c.9G>C (p.Gly3=) rs751117852 0.00001
NM_000135.4(FANCA):c.1034_1035del (p.Glu345fs) rs769580546
NM_000135.4(FANCA):c.11C>A (p.Ser4Ter) rs1484087361
NM_000135.4(FANCA):c.1267C>T (p.Gln423Ter) rs774026652
NM_000135.4(FANCA):c.1292dup (p.Leu432fs) rs1416639878
NM_000135.4(FANCA):c.1304G>A (p.Arg435His) rs1060501879
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.1459dup (p.Arg487fs) rs2039844868
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.1567-20A>G rs775154397
NM_000135.4(FANCA):c.1777-3_1783del rs2039605605
NM_000135.4(FANCA):c.1814_1815del (p.Glu605fs) rs759899153
NM_000135.4(FANCA):c.189+2T>A rs2041094594
NM_000135.4(FANCA):c.190-1G>T rs765277254
NM_000135.4(FANCA):c.1A>C (p.Met1Leu) rs772751654
NM_000135.4(FANCA):c.1A>G (p.Met1Val) rs772751654
NM_000135.4(FANCA):c.2014+1G>C rs1598116164
NM_000135.4(FANCA):c.2015-1G>T rs1555548632
NM_000135.4(FANCA):c.2021C>A (p.Ser674Ter) rs17232973
NM_000135.4(FANCA):c.2107C>T (p.Gln703Ter) rs1555548512
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.2316+1_2316+3del rs2039275264
NM_000135.4(FANCA):c.240_241del (p.Cys80_Asp81delinsTer) rs1363946483
NM_000135.4(FANCA):c.2492TCT[1] (p.Phe832del) rs1310756192
NM_000135.4(FANCA):c.2524del (p.Ser842fs) rs1205909298
NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter) rs1247378731
NM_000135.4(FANCA):c.258T>A (p.Tyr86Ter) rs1452688134
NM_000135.4(FANCA):c.2602-2A>C rs1555545592
NM_000135.4(FANCA):c.2602T>G (p.Phe868Val) rs1555545588
NM_000135.4(FANCA):c.2604_2609del
NM_000135.4(FANCA):c.2632G>C (p.Glu878Gln) rs1017086086
NM_000135.4(FANCA):c.2638C>G (p.Arg880Gly) rs762804216
NM_000135.4(FANCA):c.275C>A (p.Ser92Ter) rs1183559927
NM_000135.4(FANCA):c.2778+83C>G rs750997715
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.3066+1G>A rs587783028
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp) rs753063086
NM_000135.4(FANCA):c.3164G>A (p.Arg1055Gln) rs1429943036
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.3266T>G (p.Val1089Gly) rs2038476999
NM_000135.4(FANCA):c.3397del (p.His1133fs) rs758917273
NM_000135.4(FANCA):c.3400TTC[1] (p.Phe1135del) rs786204246
NM_000135.4(FANCA):c.3490C>T (p.Pro1164Ser) rs545772434
NM_000135.4(FANCA):c.3491C>T (p.Pro1164Leu) rs2038399117
NM_000135.4(FANCA):c.3555G>A (p.Trp1185Ter) rs1185165443
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.3627-1G>A rs2062172440
NM_000135.4(FANCA):c.3627-3_3627-2del rs2062172458
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) rs2062089336
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.3934+1G>A rs2062087795
NM_000135.4(FANCA):c.4010+1_4010+18del rs752457319
NM_000135.4(FANCA):c.4010+2T>C rs2062067746
NM_000135.4(FANCA):c.401dup (p.Val135fs) rs1555575253
NM_000135.4(FANCA):c.4075G>T (p.Asp1359Tyr) rs1555533313
NM_000135.4(FANCA):c.424A>T (p.Arg142Ter) rs2040853392
NM_000135.4(FANCA):c.426+2T>G rs1598190568
NM_000135.4(FANCA):c.4261-2A>G rs915983602
NM_000135.4(FANCA):c.427-2A>G rs765684774
NM_000135.4(FANCA):c.4275del (p.Asp1427fs) rs1598048941
NM_000135.4(FANCA):c.709+5G>T rs759877008
NM_000135.4(FANCA):c.710-10G>A rs2040524006
NM_000135.4(FANCA):c.710-142_710-141dup rs17232344
NM_000135.4(FANCA):c.820C>T (p.Leu274=) rs2040370137
NM_000135.4(FANCA):c.827-1G>T rs753728435
NM_000135.4(FANCA):c.916_917del (p.Thr306fs) rs764122657
NM_000135.4(FANCA):c.971T>G (p.Leu324Arg) rs1447363475
NM_000135.4(FANCA):c.987_990del (p.His330fs) rs772359099
NM_000136.3(FANCC):c.*42G>A rs7029888
NM_000136.3(FANCC):c.1155-1G>C rs1554829575
NM_000136.3(FANCC):c.1208G>A (p.Trp403Ter) rs2071939263
NM_000136.3(FANCC):c.1333C>T (p.Gln445Ter) rs1057516298
NM_000136.3(FANCC):c.346-1G>A rs1484503633
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.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.8_9del (p.Gln3fs) rs1831183107
NM_000136.3(FANCC):c.996+1G>A rs370510954
NM_000136.3(FANCC):c.996G>A (p.Gln332=) rs1825770865
NM_000322.5(PRPH2):c.1011_1014dup (p.Ala339fs) rs1799984208
NM_000322.5(PRPH2):c.198_202delinsAAGACACA (p.Met67_Gly68delinsArgHisArg) rs63749073
NM_000322.5(PRPH2):c.246C>A (p.Cys82Ter) rs1242862941
NM_000322.5(PRPH2):c.276dup (p.Arg93fs) rs1582780842
NM_000322.5(PRPH2):c.303C>G (p.Tyr101Ter) rs61755776
NM_000322.5(PRPH2):c.318del (p.Leu107fs) rs1761913048
NM_000322.5(PRPH2):c.377T>C (p.Leu126Pro) rs2152010976
NM_000322.5(PRPH2):c.389T>C (p.Leu130Pro) rs1761911206
NM_000322.5(PRPH2):c.410G>A (p.Gly137Asp) rs527236097
NM_000322.5(PRPH2):c.457A>G (p.Lys153Glu) rs2152010930
NM_000322.5(PRPH2):c.458A>G (p.Lys153Arg) rs61755785
NM_000322.5(PRPH2):c.458AGA[1] (p.Lys154del) rs61755786
NM_000322.5(PRPH2):c.469G>A (p.Asp157Asn) rs61755787
NM_000322.5(PRPH2):c.483C>G (p.Ile161Met) rs76989855
NM_000322.5(PRPH2):c.493T>C (p.Cys165Arg) rs2152010916
NM_000322.5(PRPH2):c.494G>A (p.Cys165Tyr) rs61755788
NM_000322.5(PRPH2):c.494G>T (p.Cys165Phe) rs61755788
NM_000322.5(PRPH2):c.497G>A (p.Cys166Tyr) rs786205579
NM_000322.5(PRPH2):c.499G>A (p.Gly167Ser) rs527236098
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp) rs61755792
NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln) rs61755793
NM_000322.5(PRPH2):c.518A>C (p.Asp173Ala) rs61755794
NM_000322.5(PRPH2):c.522G>C (p.Trp174Cys) rs1064793237
NM_000322.5(PRPH2):c.535T>C (p.Trp179Arg) rs61755796
NM_000322.5(PRPH2):c.556G>A (p.Asp186Asn) rs2152010859
NM_000322.5(PRPH2):c.582T>A (p.Asp194Glu) rs1331346375
NM_000322.5(PRPH2):c.583C>G (p.Arg195Gly) rs1322278463
NM_000322.5(PRPH2):c.584G>A (p.Arg195Gln) rs121918567
NM_000322.5(PRPH2):c.584G>T (p.Arg195Leu) rs121918567
NM_000322.5(PRPH2):c.589A>G (p.Lys197Glu) rs62645931
NM_000322.5(PRPH2):c.595A>G (p.Asn199Asp) rs757988141
NM_000322.5(PRPH2):c.603_620del (p.Arg203_Gly208del) rs1800116963
NM_000322.5(PRPH2):c.625G>T (p.Val209Phe) rs753657349
NM_000322.5(PRPH2):c.628C>T (p.Pro210Ser) rs61755797
NM_000322.5(PRPH2):c.629C>G (p.Pro210Arg) rs61755798
NM_000322.5(PRPH2):c.629C>T (p.Pro210Leu) rs61755798
NM_000322.5(PRPH2):c.633C>A (p.Phe211Leu) rs61755799
NM_000322.5(PRPH2):c.633C>G (p.Phe211Leu) rs61755799
NM_000322.5(PRPH2):c.634A>G (p.Ser212Gly) rs61755800
NM_000322.5(PRPH2):c.635G>C (p.Ser212Thr) rs61755801
NM_000322.5(PRPH2):c.637T>C (p.Cys213Arg) rs61755802
NM_000322.5(PRPH2):c.638G>C (p.Cys213Ser) rs61755803
NM_000322.5(PRPH2):c.639C>G (p.Cys213Trp) rs1800115811
NM_000322.5(PRPH2):c.643A>C (p.Asn215His) rs2152005339
NM_000322.5(PRPH2):c.643A>T (p.Asn215Tyr) rs2152005339
NM_000322.5(PRPH2):c.646C>G (p.Pro216Ala) rs61755805
NM_000322.5(PRPH2):c.646C>T (p.Pro216Ser) rs61755805
NM_000322.5(PRPH2):c.647C>G (p.Pro216Arg) rs61755806
NM_000322.5(PRPH2):c.652T>C (p.Ser218Pro) rs1582764878
NM_000322.5(PRPH2):c.658C>T (p.Arg220Trp) rs61755809
NM_000322.5(PRPH2):c.659G>C (p.Arg220Pro) rs61755810
NM_000322.5(PRPH2):c.662C>T (p.Pro221Leu) rs973931180
NM_000322.5(PRPH2):c.665G>C (p.Cys222Ser) rs1442844778
NM_000322.5(PRPH2):c.715C>T (p.Gln239Ter) rs61755814
NM_000322.5(PRPH2):c.725A>G (p.Glu242Gly) rs542296728
NM_000322.5(PRPH2):c.738G>C (p.Trp246Cys) rs1800111659
NM_000322.5(PRPH2):c.748T>A (p.Cys250Ser) rs1064793931
NM_000322.5(PRPH2):c.758C>A (p.Ala253Asp) rs2152005234
NM_000322.5(PRPH2):c.797G>A (p.Gly266Asp) rs62645935
NM_000322.5(PRPH2):c.802G>A (p.Val268Ile) rs62645936
NM_000322.5(PRPH2):c.808_818del (p.Leu270fs) rs1582764504
NM_000322.5(PRPH2):c.811del (p.Leu271fs) rs1582764528
NM_000322.5(PRPH2):c.826G>T (p.Glu276Ter) rs751900290
NM_000322.5(PRPH2):c.828+2T>C rs1800108496
NM_000322.5(PRPH2):c.829-4C>G rs1582759785
NM_000322.5(PRPH2):c.855C>A (p.Tyr285Ter) rs62645938
NM_000322.5(PRPH2):c.914G>A (p.Gly305Asp) rs61748432
NM_000322.5(PRPH2):c.937_938del (p.Pro313fs) rs1799986489
NM_000322.5(PRPH2):c.948G>A (p.Trp316Ter) rs1554268521
NM_000322.5(PRPH2):c.995T>A (p.Val332Glu) rs1582759492
NM_001113378.2(FANCI):c.3895C>T (p.Arg1299Ter) rs551305056
NM_001113525.2(ZNF276):c.*474_*481del rs1567591276
NM_002875.5(RAD51):c.877G>A (p.Ala293Thr) rs1057519413
NM_004629.2(FANCG):c.1158dup (p.Ser387fs) rs757418016
NM_004629.2(FANCG):c.1528C>T (p.Gln510Ter) rs1829056657
NM_004629.2(FANCG):c.1715G>A (p.Trp572Ter) rs1829041127
NM_004629.2(FANCG):c.1771dup (p.Leu591fs) rs746392434
NM_004629.2(FANCG):c.212T>C (p.Leu71Pro) rs1829130135
NM_004629.2(FANCG):c.85-1G>A rs1052044702
NM_004629.2(FANCG):c.908T>C (p.Leu303Pro) rs1563986439
NM_005431.2(XRCC2):c.-1G>A rs768232997
NM_005431.2(XRCC2):c.651_652del (p.Cys217_Asp218delinsTer) rs746142129
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_018062.4(FANCL):c.375-2033C>G rs1690571577
NM_021922.3(FANCE):c.248+1G>A rs1480350743
NM_021922.3(FANCE):c.387A>C (p.Pro129=) rs4713867
NM_021922.3(FANCE):c.421C>T (p.Arg141Ter) rs121434506
NM_021922.3(FANCE):c.855+58A>G rs3800377
NM_021922.3(FANCE):c.929dup (p.Val311fs) rs587778337
NM_022725.4(FANCF):c.84del (p.Ala29fs) rs1275961745
NM_024675.4(PALB2):c.1027C>T (p.Gln343Ter) rs180177097
NM_024675.4(PALB2):c.1191A>G (p.Thr397=) rs1597096781
NM_024675.4(PALB2):c.123del (p.Glu42fs) rs1967104136
NM_024675.4(PALB2):c.1285A>G (p.Ile429Val) rs1555461360
NM_024675.4(PALB2):c.1317G>A (p.Gly439=) rs515726066
NM_024675.4(PALB2):c.1376A>G (p.Asp459Gly) rs1031787378
NM_024675.4(PALB2):c.1646A>G (p.His549Arg) rs1597095334
NM_024675.4(PALB2):c.1881G>T (p.Val627=) rs139362268
NM_024675.4(PALB2):c.1924del (p.Met642fs) rs730881865
NM_024675.4(PALB2):c.1947dup (p.Glu650fs) rs515726075
NM_024675.4(PALB2):c.2074C>T (p.Gln692Ter) rs587776415
NM_024675.4(PALB2):c.223A>T (p.Lys75Ter) rs1555461875
NM_024675.4(PALB2):c.2391del (p.Gln797fs) rs1555460360
NM_024675.4(PALB2):c.2418G>T (p.Pro806=) rs577076372
NM_024675.4(PALB2):c.243G>A (p.Lys81=) rs1060502775
NM_024675.4(PALB2):c.2508C>T (p.Val836=) rs786203603
NM_024675.4(PALB2):c.2562C>T (p.Asn854=) rs1966853809
NM_024675.4(PALB2):c.2607C>T (p.Ser869=) rs45542234
NM_024675.4(PALB2):c.2747_2748+4del rs786203892
NM_024675.4(PALB2):c.2752C>T (p.Pro918Ser) rs515726094
NM_024675.4(PALB2):c.2834+1G>T rs587776419
NM_024675.4(PALB2):c.2835-1G>C rs515726099
NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter) rs118203999
NM_024675.4(PALB2):c.2982dup (p.Ala995fs) rs180177127
NM_024675.4(PALB2):c.3049G>A (p.Ala1017Thr) rs759795184
NM_024675.4(PALB2):c.3053A>C (p.Glu1018Ala) rs1567212910
NM_024675.4(PALB2):c.3116del (p.Asn1039fs) rs180177133
NM_024675.4(PALB2):c.3201+1G>C rs587776423
NM_024675.4(PALB2):c.3202-1G>C rs515726111
NM_024675.4(PALB2):c.3306C>T (p.Ser1102=) rs515726112
NM_024675.4(PALB2):c.3307G>A (p.Val1103Met) rs201657283
NM_024675.4(PALB2):c.3321G>A (p.Leu1107=) rs515726113
NM_024675.4(PALB2):c.3324C>G (p.Tyr1108Ter) rs1218512317
NM_024675.4(PALB2):c.3362del (p.Gly1121fs) rs515726117
NM_024675.4(PALB2):c.3500C>T (p.Thr1167Ile) rs1308784980
NM_024675.4(PALB2):c.3504C>G (p.Asp1168Glu) rs1966396729
NM_024675.4(PALB2):c.3507_3508del (p.His1170fs) rs587776428
NM_024675.4(PALB2):c.459G>A (p.Arg153=) rs876658633
NM_024675.4(PALB2):c.48G>A (p.Lys16=) rs587776405
NM_024675.4(PALB2):c.49-2A>T rs786203245
NM_024675.4(PALB2):c.503C>A (p.Ser168Ter) rs515726122
NM_024675.4(PALB2):c.820dup (p.Thr274fs) rs1555461611
NM_024675.4(PALB2):c.93dup (p.Leu32fs) rs864622498
NM_024675.4(PALB2):c.999C>T (p.Thr333=) rs180177096
NM_032043.3(BRIP1):c.1628+5G>A rs754929230
NM_032043.3(BRIP1):c.1941G>C (p.Trp647Cys) rs786202760
NM_032043.3(BRIP1):c.2786_2789del (p.Leu929fs) rs1295703239
NM_032043.3(BRIP1):c.408A>G (p.Ala136=) rs876660891
NM_032444.4(SLX4):c.1163+10C>T rs80116508
NM_032444.4(SLX4):c.421G>T (p.Gly141Trp) rs137976282
NM_032444.4(SLX4):c.4739+79G>A rs74762428
NM_058216.3(RAD51C):c.485G>A (p.Gly162Glu) rs35151472
NM_058216.3(RAD51C):c.502A>T (p.Arg168Ter) rs587781490
NM_058216.3(RAD51C):c.706-2A>C rs587780259
PALB2:c.2515-1G>T rs587776417

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.