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:
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
369 138 1 69 35 6 47 131

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 established risk allele likely risk allele pathogenic, low penetrance risk factor
pathogenic 1 51 21 4 3 1 1 2 1 2 1
likely pathogenic 18 0 8 0 0 0 0 0 0 1 0
uncertain significance 10 11 0 26 12 0 0 0 0 0 1

Submitter to submitter summary #

Total submitters: 105
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 65 0 6 18 4 7 35
Institute of Human Genetics, University of Leipzig Medical Center 0 28 0 9 2 1 4 16
OMIM 0 47 0 6 0 0 5 11
Mendelics 0 20 0 4 4 0 3 11
Illumina Laboratory Services, Illumina 0 40 0 0 4 0 6 10
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 8 0 5 0 0 3 8
Counsyl 0 19 0 6 0 0 1 7
LDLR-LOVD, British Heart Foundation 0 0 0 6 0 0 1 7
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 10 0 6 0 0 1 7
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 10 0 3 0 1 2 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 31 0 3 2 0 1 6
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
Revvity Omics, Revvity 0 22 0 4 0 0 1 5
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 5 0 4 0 0 1 5
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 3 0 0 2 5
Baylor Genetics 0 56 0 3 0 0 1 4
MGZ Medical Genetics Center 0 30 0 3 0 0 1 4
Natera, Inc. 0 16 0 1 3 0 0 4
Sharing Clinical Reports Project (SCRP) 0 4 0 0 3 0 1 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 21 0 4 0 0 0 4
Fulgent Genetics, Fulgent Genetics 0 29 0 2 0 0 2 4
Robarts Research Institute, Western University 0 0 0 4 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 1 0 0 3 4
Myriad Genetics, Inc. 0 20 0 2 2 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 9 0 2 0 0 2 4
Genomics England Pilot Project, Genomics England 0 2 0 4 0 0 0 4
Ambry Genetics 0 4 0 0 2 0 1 3
Blueprint Genetics 0 4 0 2 0 1 0 3
CSER _CC_NCGL, University of Washington 0 0 0 0 1 0 2 3
Institute for Integrative and Experimental Genomics, University of Luebeck 0 0 0 2 0 0 1 3
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 0 1 0 3 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 0 10 0 2 1 0 0 3
3billion 0 23 0 3 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 10 0 1 0 0 2 3
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 2 0 1 1 0 0 2
Genetic Services Laboratory, University of Chicago 0 12 0 1 0 0 1 2
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 1 0 2 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 4 0 2 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 14 0 2 0 0 0 2
Breast Cancer Information Core (BIC) (BRCA2) 0 4 0 0 0 0 2 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 4 0 2 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 1 0 1 0 0 1 2
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 1 0 0 0 0 2 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 3 0 1 0 0 1 2
Color Diagnostics, LLC DBA Color Health 0 8 0 0 1 0 1 2
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 0 0 0 1 0 0 1 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 5 0 1 0 0 1 2
Fundacion Hipercolesterolemia Familiar 0 3 0 0 0 0 2 2
Iberoamerican FH Network 0 1 0 0 0 0 2 2
Johns Hopkins Genomics, Johns Hopkins University 0 7 0 1 1 0 0 2
Lifecell International Pvt. Ltd 0 6 0 2 0 0 0 2
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine 0 0 0 0 0 0 2 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 0 1 0 0 1 2
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II 0 0 0 1 0 0 1 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 10 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 5 0 1 0 0 0 1
King Laboratory, University of Washington 0 2 0 0 0 0 1 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 4 0 0 0 1 0 1
Sema4, Sema4 0 1 0 0 1 0 0 1
GeneReviews 0 20 1 0 0 0 0 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 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
Pathway Genomics 0 1 0 1 0 0 0 1
Center for Medical Genetics Ghent, University of Ghent 0 1 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 4 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 4 0 1 0 0 0 1
Language and Genetics Department, Max Planck Institute for Psycholinguistics 0 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 2 0 0 0 0 1 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 0 0 1 0 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 1 0 1 0 0 0 1
CeGaT Center for Human Genetics Tuebingen 0 1 0 0 1 0 0 1
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 5 0 0 0 0 1 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 0 0 0 0 1 1
Daryl Scott Lab, Baylor College of Medicine 0 2 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 2 0 0 0 0 1 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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 10 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 3 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 3 0 0 0 1 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 1 0 0 0 1
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 5 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
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 6 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 4 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 2 0 0 0 0 1 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 4 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 5 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 8 0 0 0 0 1 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 0 1 0 0 1
Department of Human Genetics, Laborarztpraxis Dres. Walther, Weindel und Kollegen 0 0 0 1 0 0 0 1
National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center 0 0 0 0 0 1 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 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
CFTR-France 0 1 0 0 1 0 0 1
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia 0 2 0 1 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 3 0 1 0 0 0 1
DASA 0 8 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, Royal Melbourne Hospital 0 5 0 1 0 0 0 1
Eurofins-Biomnis 0 0 0 1 0 0 0 1
Dunham Lab, University of Washington 0 2 0 0 0 0 1 1
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 2 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 131
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 0.00434
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 0.00292
NM_012275.3(IL36RN):c.338C>T (p.Ser113Leu) rs144478519 0.00264
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn) rs138480801 0.00244
NM_001321739.2(M1AP):c.676dup (p.Trp226fs) rs144217347 0.00238
NM_021870.3(FGG):c.323C>G (p.Ala108Gly) rs148685782 0.00222
NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu) rs2227624 0.00171
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_000130.5(F5):c.2222A>G (p.Asn741Ser) rs144979314 0.00140
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) rs6475 0.00117
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys) rs147136339 0.00108
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val) rs146429605 0.00107
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00103
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027 0.00101
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu) rs121909551 0.00092
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 0.00043
NM_018117.12(WDR11):c.3450T>G (p.Phe1150Leu) rs139007744 0.00031
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967 0.00025
NM_000237.3(LPL):c.644G>A (p.Gly215Glu) rs118204057 0.00024
NM_002769.5(PRSS1):c.623G>C (p.Gly208Ala) rs189270875 0.00024
NM_014946.4(SPAST):c.1625A>G (p.Asp542Gly) rs142053576 0.00024
NM_000088.4(COL1A1):c.1691G>A (p.Arg564His) rs1800211 0.00021
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His) rs121909552 0.00018
NM_001080413.3(NOBOX):c.1483C>A (p.Pro495Thr) rs762648490 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_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_000093.5(COL5A1):c.1888C>T (p.Arg630Trp) rs577618553 0.00011
NM_014915.3(ANKRD26):c.2005A>G (p.Asn669Asp) rs368602859 0.00010
NM_000059.4(BRCA2):c.3218A>G (p.Gln1073Arg) rs80358566 0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
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 0.00006
NM_006295.3(VARS1):c.3173G>A (p.Arg1058Gln) rs769369302 0.00006
NM_001848.3(COL6A1):c.994G>A (p.Gly332Ser) rs11701912 0.00005
NM_053025.4(MYLK):c.5702C>T (p.Thr1901Met) rs200490629 0.00005
NM_000128.4(F11):c.723C>G (p.Phe241Leu) rs281875265 0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_000558.5(HBA1):c.358C>T (p.Pro120Ser) rs63750751 0.00004
NM_007294.4(BRCA1):c.3454G>A (p.Asp1152Asn) rs80357175 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_001134407.3(GRIN2A):c.3578T>G (p.Leu1193Trp) rs75761674 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_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 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_000497.4(CYP11B1):c.995G>A (p.Arg332Gln) rs149881706 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_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.1359-1G>A rs139617694 0.00001
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn) rs200727689 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_005912.3(MC4R):c.496G>A (p.Val166Ile) rs942758928 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_000128.4(F11):c.977G>A (p.Arg326His) rs1554082932
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000251.3(MSH2):c.2576_2584del (p.Glu859_Gln861del) rs587781278
NM_000277.3(PAH):c.47_48del (p.Leu15_Ser16insTer) rs62642906
NM_000313.4(PROS1):c.1501T>C (p.Ser501Pro) rs121918472
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000488.4(SERPINC1):c.1157T>C (p.Ile386Thr) rs1449772752
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.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
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_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_001083962.2(TCF4):c.1486G>A (p.Gly496Ser) rs1599570613
NM_001110556.2(FLNA):c.3637G>A (p.Gly1213Ser)
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)
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_004369.4(COL6A3):c.1630C>T (p.Arg544Trp)
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)
NM_019616.4(F7):c.1325del (p.Pro442fs) rs750457207
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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