ClinVar Miner

Variants from NHS Central & South Genomic Laboratory Hub with conflicting interpretations

Location: United Kingdom  Primary collection method: clinical testing
Minimum review status of the submission from NHS Central & South Genomic Laboratory Hub: Collection method of the submission from NHS Central & South Genomic Laboratory Hub:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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
311 308 1 151 11 6 65 210

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
NHS Central & South Genomic Laboratory Hub pathogenic likely pathogenic uncertain significance likely benign benign association drug response other
pathogenic 1 78 19 0 0 0 4 0
likely pathogenic 72 0 30 1 1 0 0 0
uncertain significance 5 11 0 10 5 2 0 1
likely benign 0 0 0 0 1 0 0 0

Submitter to submitter summary #

Total submitters: 85
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
Labcorp Genetics (formerly Invitae), Labcorp 0 208 0 41 6 0 12 59
GeneDx 0 155 0 30 2 0 19 51
CeGaT Center for Human Genetics Tuebingen 0 70 0 17 7 0 6 30
Eurofins Ntd Llc (ga) 0 52 0 10 2 0 10 22
Mayo Clinic Laboratories, Mayo Clinic 0 54 0 15 2 0 3 20
Revvity Omics, Revvity 0 52 0 11 0 0 6 17
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 40 0 7 3 0 7 17
Genome-Nilou Lab 0 78 0 14 0 0 2 16
PreventionGenetics, part of Exact Sciences 0 64 0 11 3 0 2 16
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 34 0 8 0 0 4 12
Quest Diagnostics Nichols Institute San Juan Capistrano 0 64 0 6 1 0 5 12
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 40 0 8 0 0 2 10
Athena Diagnostics 0 10 0 6 1 0 1 8
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 22 0 5 1 0 2 8
Clinical Genetics Laboratory, Skane University Hospital Lund 0 31 0 5 1 0 2 8
Genetic Services Laboratory, University of Chicago 0 16 0 6 1 1 0 8
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 43 0 6 0 0 2 8
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 21 0 5 1 0 2 8
Baylor Genetics 0 16 0 5 0 0 2 7
Dasa 0 40 0 7 0 0 0 7
Department of Pathology and Laboratory Medicine, Sinai Health System 0 15 0 3 0 0 4 7
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 11 0 4 0 0 3 7
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 34 0 6 0 0 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 20 0 4 1 0 0 5
OMIM 0 14 1 2 0 2 0 5
Ambry Genetics 0 9 0 3 1 0 0 4
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 19 0 3 0 0 1 4
ClinPGx 0 0 0 0 0 4 0 4
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 14 0 2 0 0 2 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 9 0 1 1 0 2 4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 6 0 3 1 0 0 4
3billion 0 30 0 3 0 0 0 3
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 14 0 2 0 0 1 3
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 0 23 0 3 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 7 0 2 1 0 0 3
Genomics and Molecular Medicine Service, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 5 0 3 0 0 0 3
Illumina Laboratory Services, Illumina 0 6 0 3 0 0 0 3
Medical Genetics, University of Parma 0 20 0 2 0 0 1 3
Mendelics 0 3 0 2 0 0 1 3
Molecular Genetics, Royal Melbourne Hospital 0 0 0 2 0 0 1 3
Blueprint Genetics 0 4 0 1 0 0 1 2
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 14 0 2 0 0 0 2
Clinical Genetics and Genomics, Karolinska University Hospital 0 19 0 2 0 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 0 1 0 1 0 0 1 2
Fulgent Genetics, Fulgent Genetics 0 8 0 1 0 0 1 2
Genomics England Pilot Project, Genomics England 0 0 0 2 0 0 0 2
Human Genetics Bochum, Ruhr University Bochum 0 1 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 7 0 1 0 0 1 2
Medical and Scientific Branch, Hong Kong Genome Institute 0 8 0 2 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 12 0 1 0 0 0 1
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 0 0 0 0 1 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 1 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 2 0 0 0 0 1 1
CSER _CC_NCGL, University of Washington 0 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 9 0 0 0 0 1 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 10 0 1 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 11 0 1 0 0 0 1
Clinical Genetics, Academic Medical Center 0 6 0 1 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 4 0 1 0 0 0 1
Department of Vascular Biology, Beijing Anzhen Hospital 0 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 0 1 0 0 0 1
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 7 0 1 0 0 0 1
GeneKor MSA 0 4 0 1 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 1 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 10 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 17 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 15 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 12 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 21 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 0 1 0 0 0 1
Institute of Reproductive Genetics, University of Münster 0 3 0 0 0 0 1 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 29 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 4 0 1 0 0 0 1
King Laboratory, University of Washington 0 0 0 0 0 0 1 1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 0 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 11 0 1 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 0 0 1 0 0 0 1
Snyder Lab, Genetics Department, Stanford University 0 0 0 1 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 5 0 1 0 0 0 1
Swedish Neurofibromatosis Center, Swedish Medical Center 0 0 0 0 0 0 1 1
UCLA Clinical Genomics Center, UCLA 0 0 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 17 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 210
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24046
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.17677
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792 0.00573
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly) rs121909046 0.00335
NM_001605.3(AARS1):c.1672-4T>A rs187509039 0.00236
NM_000334.4(SCN4A):c.1100+7G>A rs200770684 0.00212
NM_000406.3(GNRHR):c.785G>A (p.Arg262Gln) rs104893837 0.00132
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala) rs80265967 0.00121
NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp) rs11568514 0.00110
NM_004130.4(GYG1):c.304G>C (p.Asp102His) rs143137713 0.00109
NM_001270974.2(HYDIN):c.1855C>T (p.His619Tyr) rs144124863 0.00106
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) rs137854523 0.00098
NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly) rs35068278 0.00080
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val) rs61745150 0.00078
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00076
NM_021971.4(GMPPB):c.79G>C (p.Asp27His) rs142336618 0.00054
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_000492.4(CFTR):c.1210-12_1210-11insG rs4148705 0.00039
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00038
NM_013251.4(TAC3):c.209-1G>C rs146391497 0.00035
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542 0.00030
NM_000875.5(IGF1R):c.1502C>T (p.Ser501Leu) rs543853218 0.00025
NM_000143.4(FH):c.4T>C (p.Tyr2His) rs112335468 0.00023
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met) rs144812594 0.00023
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_000372.5(TYR):c.823G>T (p.Val275Phe) rs104894314 0.00019
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met) rs114269482 0.00018
NM_000492.4(CFTR):c.489+3A>G rs377729736 0.00016
NM_016180.5(SLC45A2):c.606G>C (p.Trp202Cys) rs146802593 0.00016
NM_005188.4(CBL):c.1871T>C (p.Leu624Ser) rs150550899 0.00014
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys) rs201118034 0.00010
NM_001003722.2(GLE1):c.1706G>A (p.Arg569His) rs121434407 0.00010
NM_000492.4(CFTR):c.2657+2_2657+3insA rs397508414 0.00009
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298 0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_015909.4(NBAS):c.767G>A (p.Cys256Tyr) rs575240073 0.00007
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) rs28904921 0.00006
NM_000102.4(CYP17A1):c.286C>T (p.Arg96Trp) rs104894138 0.00006
NM_000372.5(TYR):c.1A>G (p.Met1Val) rs28940881 0.00006
NM_000492.4(CFTR):c.254G>A (p.Gly85Glu) rs75961395 0.00006
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala) rs200334114 0.00006
NM_006261.5(PROP1):c.150del (p.Arg53fs) rs587776683 0.00006
NM_000372.5(TYR):c.1063G>C (p.Ala355Pro) rs62645908 0.00005
NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter) rs149850248 0.00005
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu) rs397508442 0.00004
NM_000492.4(CFTR):c.358G>A (p.Ala120Thr) rs201958172 0.00004
NM_000551.4(VHL):c.562C>G (p.Leu188Val) rs5030824 0.00004
NM_001349206.2(LPIN1):c.2282G>A (p.Arg761His) rs398124543 0.00004
NM_001369.3(DNAH5):c.8404C>T (p.Gln2802Ter) rs1193586811 0.00004
NM_004168.4(SDHA):c.563G>A (p.Arg188Gln) rs139881415 0.00004
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His) rs112406105 0.00003
NM_000098.3(CPT2):c.1429C>T (p.Arg477Trp) rs770734793 0.00003
NM_001130987.2(DYSF):c.5420G>A (p.Arg1807Gln) rs148860301 0.00003
NM_001369.3(DNAH5):c.1730G>C (p.Arg577Thr) rs397515541 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_002878.4(RAD51D):c.556C>T (p.Arg186Ter) rs387906843 0.00003
NM_000044.6(AR):c.2612C>T (p.Ala871Val) rs143040492 0.00002
NM_000138.5(FBN1):c.5518C>T (p.Arg1840Cys) rs765387131 0.00002
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617 0.00002
NM_000551.4(VHL):c.376G>A (p.Asp126Asn) rs104893831 0.00002
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) rs137854550 0.00002
NM_001369.3(DNAH5):c.8642C>G (p.Ala2881Gly) rs727502973 0.00002
NM_000018.4(ACADVL):c.637G>A (p.Ala213Thr) rs140629318 0.00001
NM_000051.4(ATM):c.7456C>T (p.Arg2486Ter) rs587779865 0.00001
NM_000059.4(BRCA2):c.3785C>G (p.Ser1262Ter) rs80358620 0.00001
NM_000059.4(BRCA2):c.681+1G>A rs398122565 0.00001
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014 0.00001
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00001
NM_000163.5(GHR):c.508G>C (p.Asp170His) rs121909366 0.00001
NM_000275.3(OCA2):c.1080C>T (p.Ser360=) rs373775562 0.00001
NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys) rs777751303 0.00001
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile) rs397508600 0.00001
NM_000492.4(CFTR):c.4364C>G (p.Ser1455Ter) rs121909043 0.00001
NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe) rs193922781 0.00001
NM_001042492.3(NF1):c.2350T>C (p.Trp784Arg) rs199474730 0.00001
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter) rs760703505 0.00001
NM_001613.4(ACTA2):c.592C>T (p.Arg198Cys) rs772862676 0.00001
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln) rs772551056 0.00001
NM_003000.3(SDHB):c.286G>A (p.Gly96Ser) rs587782243 0.00001
NM_003000.3(SDHB):c.380T>G (p.Ile127Ser) rs786201095 0.00001
NM_003000.3(SDHB):c.600G>T (p.Trp200Cys) rs397516836 0.00001
NM_003000.3(SDHB):c.689G>A (p.Arg230His) rs587782604 0.00001
NM_003001.5(SDHC):c.380A>G (p.His127Arg) rs786203457 0.00001
NM_003907.3(EIF2B5):c.913A>T (p.Met305Leu) rs200143780 0.00001
NM_003995.4(NPR2):c.2723T>C (p.Ile908Thr) rs369313283 0.00001
NM_004863.4(SPTLC2):c.547C>T (p.Arg183Trp) rs775437084 0.00001
NM_006070.6(TFG):c.317G>A (p.Arg106His) rs376971794 0.00001
NM_015909.4(NBAS):c.2373G>A (p.Trp791Ter) rs927816752 0.00001
NM_130810.4(DNAAF4):c.808C>T (p.Arg270Ter) rs397515621 0.00001
NM_000044.6(AR):c.2258G>A (p.Arg753Gln) rs1057523747
NM_000059.4(BRCA2):c.8072C>T (p.Ser2691Phe) rs80359047
NM_000098.3(CPT2):c.852del (p.Glu285fs) rs1057517729
NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs) rs556794126
NM_000138.5(FBN1):c.1516A>T (p.Asn506Tyr) rs2141327814
NM_000138.5(FBN1):c.1837+5G>A rs1445085747
NM_000138.5(FBN1):c.2131T>C (p.Cys711Arg) rs1555399481
NM_000138.5(FBN1):c.3656A>G (p.Tyr1219Cys) rs1555398394
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys) rs794728334
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter) rs113001196
NM_000138.5(FBN1):c.6707A>G (p.Tyr2236Cys) rs368439899
NM_000143.4(FH):c.934T>C (p.Phe312Leu) rs863224000
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn) rs535644999
NM_000179.3(MSH6):c.1450G>A (p.Glu484Lys) rs587782706
NM_000179.3(MSH6):c.1621A>C (p.Ser541Arg) rs587779778
NM_000179.3(MSH6):c.3385T>C (p.Cys1129Arg) rs1060502905
NM_000197.2(HSD17B3):c.242C>T (p.Thr81Met)
NM_000218.3(KCNQ1):c.1106C>T (p.Pro369Leu) rs781369724
NM_000249.4(MLH1):c.1595G>A (p.Gly532Asp) rs2084640841
NM_000251.3(MSH2):c.1355A>T (p.Glu452Val) rs1553361274
NM_000251.3(MSH2):c.2087C>T (p.Pro696Leu) rs267607994
NM_000292.3(PHKA2):c.3614C>T (p.Pro1205Leu) rs137852288
NM_000368.5(TSC1):c.1498C>T (p.Arg500Ter) rs118203537
NM_000368.5(TSC1):c.671T>G (p.Met224Arg) rs118203426
NM_000368.5(TSC1):c.733C>T (p.Arg245Ter) rs118203434
NM_000435.3(NOTCH3):c.1279C>T (p.Arg427Cys) rs1599391536
NM_000435.3(NOTCH3):c.2791A>T (p.Ser931Cys) rs2145423783
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys) rs28933696
NM_000435.3(NOTCH3):c.698G>A (p.Cys233Tyr) rs2145440883
NM_000475.5(NR0B1):c.1273A>G (p.Arg425Gly) rs2519049376
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.4(CFTR):c.4056G>T (p.Gln1352His) rs113857788
NM_000530.8(MPZ):c.233C>T (p.Ser78Leu) rs121913601
NM_001012759.3(CTU2):c.881C>A (p.Ser294Ter) rs201111272
NM_001042492.3(NF1):c.1185+5G>C rs1597682182
NM_001042492.3(NF1):c.1185G>A (p.Lys395=) rs1567835847
NM_001042492.3(NF1):c.1260+1G>T rs267606603
NM_001042492.3(NF1):c.1260+6T>C rs1555611111
NM_001042492.3(NF1):c.1496T>G (p.Leu499Arg) rs1555612288
NM_001042492.3(NF1):c.1527+5G>A rs1060500352
NM_001042492.3(NF1):c.1598T>G (p.Val533Gly) rs1555612857
NM_001042492.3(NF1):c.1641+1G>A rs1555612866
NM_001042492.3(NF1):c.1658A>G (p.His553Arg) rs1064794274
NM_001042492.3(NF1):c.1660C>T (p.Gln554Ter) rs953440640
NM_001042492.3(NF1):c.1846C>T (p.Gln616Ter) rs1555613543
NM_001042492.3(NF1):c.2084T>C (p.Leu695Pro) rs199474761
NM_001042492.3(NF1):c.2288T>G (p.Leu763Arg) rs199474762
NM_001042492.3(NF1):c.2325G>A (p.Glu775=) rs1555613932
NM_001042492.3(NF1):c.2329T>C (p.Trp777Arg) rs876658853
NM_001042492.3(NF1):c.245C>T (p.Ser82Phe) rs199474729
NM_001042492.3(NF1):c.248A>C (p.Gln83Pro) rs1060500360
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_001042492.3(NF1):c.2623G>T (p.Gly875Cys) rs754734571
NM_001042492.3(NF1):c.269T>G (p.Leu90Arg) rs1555605393
NM_001042492.3(NF1):c.277T>C (p.Cys93Arg) rs1555605398
NM_001042492.3(NF1):c.288+4A>G rs781459468
NM_001042492.3(NF1):c.2990+5G>A rs1555614464
NM_001042492.3(NF1):c.2991-2A>G rs1555614495
NM_001042492.3(NF1):c.3113+2T>G rs876658997
NM_001042492.3(NF1):c.3113+5G>A rs1555614549
NM_001042492.3(NF1):c.3114-2A>G rs1428885377
NM_001042492.3(NF1):c.3197+1G>A rs1555614653
NM_001042492.3(NF1):c.3277G>A (p.Val1093Met) rs1555614858
NM_001042492.3(NF1):c.3445A>G (p.Met1149Val) rs1187097568
NM_001042492.3(NF1):c.3461A>T (p.Asn1154Ile) rs371544233
NM_001042492.3(NF1):c.3502G>C (p.Gly1168Arg) rs878853883
NM_001042492.3(NF1):c.3572C>G (p.Thr1191Arg) rs2151435462
NM_001042492.3(NF1):c.3578T>A (p.Phe1193Tyr) rs199474780
NM_001042492.3(NF1):c.3590C>T (p.Ala1197Val) rs370820478
NM_001042492.3(NF1):c.3892C>T (p.Gln1298Ter) rs2067193761
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925
NM_001042492.3(NF1):c.3G>T (p.Met1Ile) rs1598173737
NM_001042492.3(NF1):c.4016T>G (p.Leu1339Arg) rs1567858306
NM_001042492.3(NF1):c.4231C>T (p.Leu1411Phe) rs199474789
NM_001042492.3(NF1):c.4235G>C (p.Arg1412Thr) rs1555618516
NM_001042492.3(NF1):c.4340A>G (p.Gln1447Arg) rs786204157
NM_001042492.3(NF1):c.4382T>A (p.Met1461Lys) rs754639587
NM_001042492.3(NF1):c.4724+1G>A rs1555619056
NM_001042492.3(NF1):c.47G>C (p.Arg16Pro) rs1555594493
NM_001042492.3(NF1):c.4886T>C (p.Leu1629Pro) rs1555533288
NM_001042492.3(NF1):c.5534T>G (p.Ile1845Ser) rs1060500339
NM_001042492.3(NF1):c.5548G>T (p.Val1850Phe) rs1597832397
NM_001042492.3(NF1):c.5609G>C (p.Arg1870Pro) rs786202112
NM_001042492.3(NF1):c.5610-2A>T rs1135402876
NM_001042492.3(NF1):c.58C>T (p.Gln20Ter) rs1567786905
NM_001042492.3(NF1):c.5933T>G (p.Leu1978Arg) rs2069606635
NM_001042492.3(NF1):c.6864A>G (p.Gln2288=) rs1064794756
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter) rs786201367
NM_001042492.3(NF1):c.7970+5G>T rs1567627286
NM_001042492.3(NF1):c.7970+6T>C rs1555536775
NM_001110556.2(FLNA):c.2137-2A>G rs1064796297
NM_001130987.2(DYSF):c.5174+5G>A rs745891180
NM_001386125.1(OBSCN):c.25255+1G>A
NM_001791.4(CDC42):c.68A>G (p.Tyr23Cys) rs797044916
NM_002834.5(PTPN11):c.1502G>A (p.Arg501Lys) rs397507543
NM_004612.4(TGFBR1):c.655G>T (p.Val219Phe) rs863223810
NM_006767.4(LZTR1):c.1614A>G (p.Lys538=) rs2147967487
NM_006767.4(LZTR1):c.2069+2T>C rs1274454493
NM_007055.4(POLR3A):c.1771-7C>G rs201314157
NM_007194.4(CHEK2):c.1115C>G (p.Ser372Cys) rs147877722
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter) rs80356885
NM_007294.4(BRCA1):c.4675+1G>A rs80358044
NM_007294.4(BRCA1):c.4963T>C (p.Ser1655Pro) rs1057518639
NM_007294.4(BRCA1):c.5057A>G (p.His1686Arg) rs730882166
NM_013275.6(ANKRD11):c.2716C>T (p.Arg906Ter) rs929007085
NM_014874.4(MFN2):c.1126A>G (p.Met376Val) rs863224967
NM_015909.4(NBAS):c.2950del (p.Ile984fs) rs776797592
NM_015909.4(NBAS):c.4090-10_4090-8del rs576912470
NM_017950.4(CCDC40):c.3354C>A (p.Tyr1118Ter) rs374909386
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_021076.4(NEFH):c.3010_3011del (p.Asp1004fs) rs876657411
NM_024301.5(FKRP):c.158_162dup (p.Glu55fs) rs1290836394
NM_144997.7(FLCN):c.1176+1G>C rs1555607929
NM_144997.7(FLCN):c.1177-5_1177-3del rs767671406
NM_144997.7(FLCN):c.171dup (p.Met58fs) rs886041203
NM_144997.7(FLCN):c.466TTC[1] (p.Phe157del) rs786203218

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