ClinVar Miner

Variants from Zotz-Klimas Genetics Lab, MVZ Zotz Klimas with conflicting interpretations

Location: Germany  Primary collection method: clinical testing
Minimum review status of the submission from Zotz-Klimas Genetics Lab, MVZ Zotz Klimas: Collection method of the submission from Zotz-Klimas Genetics Lab, MVZ Zotz Klimas:
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
344 140 4 86 44 2 50 154

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
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas pathogenic likely pathogenic uncertain significance likely benign benign affects association
pathogenic 3 64 21 5 3 1 1
likely pathogenic 22 1 9 0 0 0 0
uncertain significance 11 13 0 32 16 0 0

Submitter to submitter summary #

Total submitters: 136
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 66 2 8 22 1 8 41
Institute of Human Genetics, University of Leipzig Medical Center 0 42 1 7 2 0 4 14
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 14 0 10 0 0 1 11
Mendelics 0 21 0 4 4 0 3 11
Department of Pathology and Laboratory Medicine, Sinai Health System 0 25 1 5 1 0 3 10
OMIM 0 48 0 5 0 0 5 10
Counsyl 0 19 0 6 0 0 2 8
Fulgent Genetics, Fulgent Genetics 0 35 0 5 0 0 3 8
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 8 0 5 0 0 3 8
Revvity Omics, Revvity 0 23 0 6 0 0 2 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 33 0 8 0 0 0 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 33 0 4 2 0 2 8
3billion 0 31 0 6 0 0 1 7
Ambry Genetics 0 11 1 1 4 0 1 7
Illumina Laboratory Services, Illumina 0 43 0 1 4 0 2 7
LDLR-LOVD, British Heart Foundation 0 0 0 6 0 0 1 7
Myriad Genetics, Inc. 0 21 0 3 4 0 0 7
Natera, Inc. 0 21 0 2 3 0 2 7
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 1 0 5 1 0 0 6
Genome-Nilou Lab 0 19 0 5 1 0 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 12 1 3 0 0 2 6
Color Diagnostics, LLC DBA Color Health 0 14 0 1 1 0 3 5
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 3 0 0 2 5
Baylor Genetics 0 61 0 3 0 0 1 4
Genomics England Pilot Project, Genomics England 0 2 0 4 0 0 0 4
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 7 0 3 0 0 1 4
MGZ Medical Genetics Center 0 30 0 3 0 0 1 4
Neuberg Centre For Genomic Medicine, NCGM 0 13 0 2 0 0 2 4
Robarts Research Institute, Western University 0 0 0 4 0 0 0 4
Sharing Clinical Reports Project (SCRP) 0 4 0 0 3 0 1 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 7 0 2 1 0 0 3
Blueprint Genetics 0 4 0 2 0 0 1 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 0 2 0 0 1 3
CSER _CC_NCGL, University of Washington 0 0 0 0 1 0 2 3
Genetics and Molecular Pathology, SA Pathology 0 10 0 2 1 0 0 3
Institute for Integrative and Experimental Genomics, University of Luebeck 0 0 0 2 0 0 1 3
Institute of Human Genetics Munich, TUM University Hospital 0 17 0 2 0 0 1 3
Johns Hopkins Genomics, Johns Hopkins University 0 8 0 1 2 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 12 1 1 0 0 1 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 16 0 2 0 0 1 3
Medical and Scientific Branch, Hong Kong Genome Institute 0 4 0 3 0 0 0 3
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 0 1 0 3 0 0 0 3
Breast Cancer Information Core (BIC) (BRCA2) 0 4 0 0 0 0 2 2
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 0 0 0 1 0 0 1 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 3 0 1 0 0 1 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 5 0 1 0 0 1 2
Dasa 0 10 0 2 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 5 1 1 0 0 0 2
Department of Human Genetics, Hannover Medical School 0 14 0 1 0 0 1 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 2 0 1 0 0 1 2
Fundacion Hipercolesterolemia Familiar 0 3 0 0 0 0 2 2
Genetic Services Laboratory, University of Chicago 0 12 0 1 0 0 1 2
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 2 0 1 1 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 4 0 2 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 5 0 2 0 0 0 2
Iberoamerican FH Network 0 1 0 0 0 0 2 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 5 0 1 0 0 1 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 2 0 1 0 0 1 2
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 4 0 1 0 0 1 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 2 0 0 0 2
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 1 0 0 0 0 2 2
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine 0 0 0 0 0 0 2 2
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II 0 0 0 1 0 0 1 2
Lifecell International Pvt. Ltd 0 6 0 2 0 0 0 2
MVZ Martinsried, Medicover Genetics 0 1 0 1 0 0 1 2
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 1 0 2 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 5 0 2 0 0 0 2
Newborn Screening Ontario, Children's Hospital of Eastern Ontario (CHEO) 0 3 0 0 1 0 1 2
Otogenetics 0 2 0 1 0 0 1 2
Sema4, Sema4 0 4 0 0 1 0 1 2
UCLA Clinical Genomics Center, UCLA 0 1 0 1 0 0 1 2
Variantyx, Inc. 0 18 0 2 0 0 0 2
All of Us Research Program, National Institutes of Health 0 19 0 0 0 0 1 1
Amrita Institute of Medical Sciences and Research Centre, Amrita Vishwa Vidyapeetham 0 1 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 4 0 1 0 0 0 1
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia 0 2 0 1 0 0 0 1
CFTR-France 0 1 0 0 1 0 0 1
Catlab - Consorci Sanitari de Terrassa 0 0 0 0 0 0 1 1
CeGaT Center for Human Genetics Tuebingen 0 1 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 0 1 0 0 0 1
Center for Medical Genetics Ghent, University of Ghent 0 1 0 1 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 0 0 1 0 0 0 1
Center of Medical Genetics and Primary Health Care 0 0 0 1 0 0 0 1
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel 0 5 0 0 0 0 1 1
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen 0 0 0 0 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 5 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 6 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 3 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 4 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 4 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 2 0 1 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 0 4 0 0 0 0 1 1
Department of Human Genetics, Laborarztpraxis Dres. Walther, Weindel und Kollegen 0 0 0 1 0 0 0 1
Department of Pediatric Oncology, Hematology and Clinical Immunology, University Clinics Duesseldorf 0 0 0 0 0 0 1 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 4 0 1 0 0 0 1
Dunham Lab, University of Washington 0 2 0 0 0 0 1 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 10 0 1 0 0 0 1
Eurofins-Biomnis 0 0 0 1 0 0 0 1
GeneKor MSA 0 3 0 1 0 0 0 1
Genesis Genomics 0 2 0 1 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 3 0 0 0 0 1 1
Genetic Laboratory, Lianyungang Maternal and Child Health Hospital Affiliated to Kangda College of Nanjing Medical University 0 0 0 1 0 0 0 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 0 3 0 1 0 0 0 1
Gharavi Laboratory, Columbia University 0 0 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 16 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 2 0 0 0 0 1 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 4 0 1 0 0 0 1
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 0 0 0 1 0 0 0 1
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 0 2 0 0 0 0 1 1
Institute of Human Genetics Greifswald, Research Division, University Medicine Greifswald 0 0 0 1 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 3 0 0 0 0 1 1
Intergen Genetics and Rare Diseases Diagnosis Center 0 5 1 0 0 0 0 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 18 0 1 0 0 0 1
King Laboratory, University of Washington 0 2 0 0 0 0 1 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 12 0 1 0 0 0 1
Laboratorio de I+D, Fundación Centro Médico de Asturias 0 0 0 0 0 0 1 1
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 5 0 0 0 0 1 1
Language and Genetics Department, Max Planck Institute for Psycholinguistics 0 0 0 1 0 0 0 1
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences 0 0 0 1 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 2 0 1 0 0 0 1
Molecular Pathology, Peter Maccallum Cancer Centre 0 6 0 0 1 0 0 1
National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center 0 0 0 0 0 1 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 0 0 1 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 5 0 1 0 0 0 1
Pathway Genomics 0 0 0 1 0 0 0 1
PreventionGenetics, part of Exact Sciences 0 2 0 0 0 0 1 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 5 0 1 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 0 0 1 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 6 0 1 0 0 0 1
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 5 0 0 0 0 1 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 7 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 3 0 0 0 0 1 1
Unidad de Genética Molecular HGU Elche, Hospital General Universitario de Elche 0 2 0 0 0 0 1 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 154
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_000500.9(CYP21A2):c.*13G>A rs6447 0.01770
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100 0.00625
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792 0.00573
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00408
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_020987.5(ANK3):c.5582C>T (p.Thr1861Met) rs117475706 0.00287
NM_012275.3(IL36RN):c.338C>T (p.Ser113Leu) rs144478519 0.00264
NM_001321739.2(M1AP):c.676dup (p.Trp226fs) rs144217347 0.00238
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn) rs138480801 0.00230
NM_021870.3(FGG):c.323C>G (p.Ala108Gly) rs148685782 0.00218
NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu) rs2227624 0.00167
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_014915.3(ANKRD26):c.3007G>A (p.Glu1003Lys) rs41304587 0.00141
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter) rs150766139 0.00138
NM_000130.5(F5):c.2222A>G (p.Asn741Ser) rs144979314 0.00133
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00131
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) rs6475 0.00117
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00111
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys) rs147136339 0.00110
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val) rs146429605 0.00107
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00102
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027 0.00101
NM_144668.6(CFAP251):c.331G>T (p.Glu111Ter) rs199671406 0.00098
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu) rs121909551 0.00084
NM_000174.5(GP9):c.368C>T (p.Pro123Leu) rs202229101 0.00083
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) rs36210422 0.00061
NM_001848.3(COL6A1):c.2876T>C (p.Val959Ala) rs144814689 0.00050
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp) rs121918170 0.00040
NM_002769.5(PRSS1):c.623G>C (p.Gly208Ala) rs189270875 0.00035
NM_018117.12(WDR11):c.3450T>G (p.Phe1150Leu) rs139007744 0.00033
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967 0.00024
NM_000237.3(LPL):c.644G>A (p.Gly215Glu) rs118204057 0.00022
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val) rs199897298 0.00021
NM_014946.4(SPAST):c.1625A>G (p.Asp542Gly) rs142053576 0.00021
NM_000088.4(COL1A1):c.1691G>A (p.Arg564His) rs1800211 0.00020
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His) rs121909552 0.00018
NM_001001548.3(CD36):c.1079T>G (p.Leu360Ter) rs56381858 0.00017
NM_020247.5(COQ8A):c.1665G>A (p.Met555Ile) rs199874519 0.00016
NM_001436401.1(NOBOX):c.1132C>A (p.Pro378Thr) rs762648490 0.00013
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_000093.5(COL5A1):c.1888C>T (p.Arg630Trp) rs577618553 0.00011
NM_002691.4(POLD1):c.521G>A (p.Arg174Gln) rs141976385 0.00011
NM_014915.3(ANKRD26):c.2005A>G (p.Asn669Asp) rs368602859 0.00010
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_000059.4(BRCA2):c.3218A>G (p.Gln1073Arg) rs80358566 0.00008
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter) rs376161880 0.00008
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter) rs189150283 0.00007
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His) rs121908706 0.00007
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) rs111033305 0.00006
NM_000535.7(PMS2):c.632G>A (p.Arg211Gln) rs587781934 0.00005
NM_001134407.3(GRIN2A):c.3578T>G (p.Leu1193Trp) rs75761674 0.00005
NM_053025.4(MYLK):c.5702C>T (p.Thr1901Met) rs200490629 0.00005
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_005912.3(MC4R):c.496G>A (p.Val166Ile) rs942758928 0.00004
NM_000113.3(TOR1A):c.862C>T (p.Arg288Ter) rs760768475 0.00003
NM_000133.4(F9):c.391+4A>G rs749754992 0.00003
NM_001848.3(COL6A1):c.994G>A (p.Gly332Ser) rs11701912 0.00003
NM_007294.4(BRCA1):c.3454G>A (p.Asp1152Asn) rs80357175 0.00003
NM_030773.4(TUBB1):c.952C>T (p.Arg318Trp) rs121918555 0.00003
NM_000027.4(AGA):c.503G>A (p.Trp168Ter) rs386833430 0.00002
NM_000053.4(ATP7B):c.3505A>G (p.Met1169Val) rs749085322 0.00002
NM_000057.4(BLM):c.3028del (p.Asp1010fs) rs780379121 0.00002
NM_000059.4(BRCA2):c.10202C>T (p.Thr3401Met) rs55853199 0.00002
NM_000093.5(COL5A1):c.187G>A (p.Ala63Thr) rs749697867 0.00002
NM_000093.5(COL5A1):c.2635C>A (p.Gln879Lys) rs758475317 0.00002
NM_000128.4(F11):c.977G>A (p.Arg326His) rs1554082932 0.00002
NM_000251.3(MSH2):c.2009C>T (p.Pro670Leu) rs41294982 0.00002
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_000312.4(PROC):c.925G>A (p.Ala309Thr) rs121918146 0.00002
NM_000455.5(STK11):c.1193C>T (p.Ala398Val) rs768058962 0.00002
NM_000497.4(CYP11B1):c.995G>A (p.Arg332Gln) rs149881706 0.00002
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser) rs730882096 0.00002
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp) rs373371572 0.00002
NM_006295.3(VARS1):c.3173G>A (p.Arg1058Gln) rs769369302 0.00002
NM_007194.4(CHEK2):c.480A>G (p.Ile160Met) rs575910805 0.00002
NM_000048.4(ASL):c.707G>A (p.Arg236Gln) rs764602422 0.00001
NM_000051.4(ATM):c.8549T>A (p.Leu2850Ter) rs876658716 0.00001
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000128.4(F11):c.723C>G (p.Phe241Leu) rs281875265 0.00001
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00001
NM_000251.3(MSH2):c.775C>T (p.Pro259Ser) rs587781294 0.00001
NM_000312.4(PROC):c.1106C>T (p.Pro369Leu) rs1211098698 0.00001
NM_000441.2(SLC26A4):c.3G>C (p.Met1Ile) rs786204426 0.00001
NM_000455.5(STK11):c.632G>A (p.Arg211Gln) rs730881982 0.00001
NM_000465.4(BARD1):c.2129A>T (p.Asp710Val) rs150121935 0.00001
NM_000488.4(SERPINC1):c.133C>T (p.Arg45Trp) rs768704768 0.00001
NM_000488.4(SERPINC1):c.391C>T (p.Leu131Phe) rs121909567 0.00001
NM_000527.5(LDLR):c.1285G>A (p.Val429Met) rs28942078 0.00001
NM_000527.5(LDLR):c.1359-1G>A rs139617694 0.00001
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn) rs200727689 0.00001
NM_001042492.3(NF1):c.1921A>G (p.Ser641Gly) rs769154907 0.00001
NM_001110556.2(FLNA):c.3637G>A (p.Gly1213Ser) rs1557177704 0.00001
NM_001849.4(COL6A2):c.2099G>A (p.Gly700Asp) rs2078657536 0.00001
NM_001849.4(COL6A2):c.2483C>T (p.Thr828Met) rs755782924 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_003482.4(KMT2D):c.3455C>T (p.Pro1152Leu) rs765863571 0.00001
NM_004369.4(COL6A3):c.1630C>T (p.Arg544Trp) rs749113845 0.00001
NM_006772.3(SYNGAP1):c.3308G>A (p.Arg1103His) rs764952741 0.00001
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro) rs267606668
NM_000088.4(COL1A1):c.3065G>T (p.Gly1022Val) rs67771061
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile) rs28940580
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000251.3(MSH2):c.2576_2584del (p.Glu859_Gln861del) rs587781278
NM_000251.3(MSH2):c.490G>T (p.Gly164Trp) rs63750582
NM_000277.3(PAH):c.47_48del (p.Leu15_Ser16insTer) rs62642906
NM_000297.4(PKD2):c.2358+1G>A rs2110138755
NM_000313.4(PROS1):c.1501T>C (p.Ser501Pro) rs121918472
NM_000488.4(SERPINC1):c.1157T>C (p.Ile386Thr) rs1449772752
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000500.9(CYP21A2):c.1439G>T (p.Arg480Leu) rs184649564
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_000535.7(PMS2):c.354-1G>A rs786203954
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del) rs1064794572
NM_000552.5(VWF):c.4636del (p.Met1545_Val1546insTer) rs267607345
NM_001009944.3(PKD1):c.6752_6754del (p.Val2251del) rs1596550396
NM_001009944.3(PKD1):c.8932TTC[1] (p.Phe2979del) rs1358948221
NM_001042424.3(NSD2):c.1348C>T (p.Arg450Ter) rs2108805626
NM_001042492.3(NF1):c.2798T>C (p.Leu933Pro) rs1555614342
NM_001042492.3(NF1):c.5521C>T (p.Gln1841Ter) rs786203570
NM_001042492.3(NF1):c.5858T>C (p.Leu1953Pro) rs199474792
NM_001083962.2(TCF4):c.1486G>A (p.Gly496Ser) rs1599570613
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001134673.4(NFIA):c.361C>T (p.Arg121Cys) rs886039429
NM_001165963.4(SCN1A):c.5066T>C (p.Met1689Thr) rs1559104676
NM_001190274.2(FBXO11):c.2729A>G (p.Asp910Gly) rs1670355281
NM_001303052.2(MYT1L):c.2221_2230del (p.Thr741fs) rs1253072668
NM_001349338.3(FOXP1):c.1540C>T (p.Arg514Cys) rs869025203
NM_001845.6(COL4A1):c.3715G>A (p.Gly1239Arg) rs1085307709
NM_003482.4(KMT2D):c.4853T>C (p.Leu1618Pro) rs1436813824
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg) rs587776934
NM_005373.3(MPL):c.823C>A (p.Pro275Thr) rs28928908
NM_014112.5(TRPS1):c.769C>T (p.Arg257Ter) rs2130531352
NM_014712.3(SETD1A):c.2665C>T (p.Arg889Trp) rs2056158149
NM_014915.3(ANKRD26):c.-128G>A rs1589393809
NM_019616.4(F7):c.1325del (p.Pro442fs) rs750457207
NM_024757.5(EHMT1):c.1359C>G (p.Ser453Arg) rs545055517
NM_138694.4(PKHD1):c.8552T>C (p.Ile2851Thr) rs1554232224
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg) rs869312840
NM_182916.3(TRNT1):c.498_501del (p.Phe167fs) rs754883449
NM_183235.3(RAB27A):c.259G>C (p.Ala87Pro) rs104894497
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter) rs397518048

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