ClinVar Miner

Variants from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne with conflicting interpretations

Location: France — Primary collection method: clinical testing
Minimum review status of the submission from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne: Collection method of the submission from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne:
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
545 106 12 94 12 6 42 153

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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne pathogenic likely pathogenic uncertain significance likely benign benign association drug response protective risk factor other
pathogenic 11 32 6 1 1 0 1 1 0 1
likely pathogenic 59 1 17 2 2 0 1 1 0 1
uncertain significance 12 4 0 8 4 1 0 0 1 0
likely benign 5 0 2 0 4 0 0 0 0 0
benign 0 0 0 1 0 0 0 0 0 0
drug response 2 0 0 1 0 0 0 0 0 2

Submitter to submitter summary #

Total submitters: 110
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
OMIM 0 77 0 22 0 2 13 37
Invitae 0 44 0 17 5 1 10 32
GeneReviews 0 18 11 8 0 0 3 22
Illumina Clinical Services Laboratory,Illumina 0 13 0 3 7 0 5 15
Baylor Genetics 0 19 0 11 0 0 3 14
Institute of Human Genetics, University of Leipzig Medical Center 0 16 0 6 4 0 1 11
Counsyl 0 14 0 5 1 0 2 8
GeneDx 0 2 0 4 0 1 3 7
Natera, Inc. 0 7 0 5 0 0 0 5
Mendelics 0 15 0 2 2 0 1 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 12 0 5 0 0 1 5
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 2 0 0 4 5
Genetic Services Laboratory, University of Chicago 0 16 0 2 0 0 2 4
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 0 1 0 3 2 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 8 0 4 0 0 0 4
SIB Swiss Institute of Bioinformatics 0 3 0 4 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 0 2 0 0 1 3
Fulgent Genetics,Fulgent Genetics 0 15 0 3 0 0 0 3
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 1 2 0 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 3 0 3 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2 0 2 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 4 0 0 2 0 0 2
Elsea Laboratory,Baylor College of Medicine 0 0 0 2 0 0 0 2
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 2 0 2 0 0 0 2
Integrated Genetics/Laboratory Corporation of America 0 14 0 2 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 3 0 2 0 0 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 6 0 1 0 1 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 4 0 2 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 2 0 2 0 0 1 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 3 0 2 0 0 0 2
Neurogenetics Laboratory - MEYER,AOU Meyer 0 0 0 2 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 2 0 0 1 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 799 3 0 2 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 6 0 2 0 0 1 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 4 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 2 0 2 0 0 0 2
Myriad Women's Health, Inc. 0 11 0 2 0 0 0 2
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University 0 0 0 2 0 0 0 2
Paris Brain Institute,Inserm - ICM 0 1 0 2 0 0 0 2
Athena Diagnostics Inc 0 0 0 0 0 0 1 1
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 1 0 1 0 0 0 1
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 0 0 0 1 0 0 0 1
Institute of Human Genetics,Cologne University 0 1 0 1 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 4 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 2 0 1 0 0 0 1
Sharing Clinical Reports Project (SCRP) 0 5 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 1 0 0 1 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 0 0 0 0 1 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 1 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 0 15 0 1 0 0 0 1
LISIN Facultad de Ciencias Exactas, Universidad Nacional de La Plata 0 0 0 0 0 0 1 1
Breast Cancer Information Core (BIC) (BRCA2) 0 4 0 1 0 0 0 1
RettBASE 0 1 0 1 0 0 0 1
Department of Psychiatry,Nagoya University 0 0 0 1 0 0 0 1
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 7 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 2 0 1 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 0 0 0 0 1 1
Center for Medical Genetics Ghent,University of Ghent 0 0 0 1 0 0 0 1
CHU Sainte-Justine Research Center,University of Montreal 0 0 0 1 0 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 0 0 1 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 0 0 0 1 0 0 0 1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics 0 0 0 0 0 1 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 3 0 1 0 0 0 1
Lyon Laboratory, Cold Spring Harbor Laboratory 0 0 0 0 0 0 1 1
University of Washington Center for Mendelian Genomics, University of Washington 0 2 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 7 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 0 0 1 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 0 0 1 0 0 0 1
Genome Sciences Centre,British Columbia Cancer Agency 0 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 0 0 0 1 1
Medical Biochemical Genetics, National Human Genome institute, NIH,National Institutes of Health 0 0 0 1 0 0 0 1
Institute for Genomic Medicine, Columbia University,Columbia University Medical Center 0 0 0 1 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 0 0 1 0 0 0 1
Database of Curated Mutations (DoCM) 0 0 0 0 0 0 1 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 1 0 0 0 1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 7 0 1 0 0 0 1
Pediatric Highly Intensive Care Unit,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 0 0 0 1 0 0 0 1
Daryl Scott Lab,Baylor College of Medicine 0 0 0 1 0 0 0 1
Undiagnosed Diseases Network,NIH 0 5 0 1 0 0 1 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 3 0 1 0 0 1 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 1 0 1 0 0 1 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 0 1 0 0 1 1
Institute of Cellular and Molecular Medicine,Copenhagen University 0 0 0 1 0 0 0 1
Flegel Lab,National Institutes of Health 0 0 0 1 0 0 0 1
Department of Human Genetics, University Hospital Magdeburg 0 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 4 0 1 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 2 0 1 0 0 0 1
ClinGen PAH Variant Curation Expert Panel 0 3 0 1 0 0 0 1
Laboratoire de Genetique Moleculaire,Centre Hospitalier Universitaire de Bordeaux 0 0 0 0 0 0 1 1
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 0 0 0 1 0 0 1 1
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 0 0 0 0 0 0 1 1
Broad Institute Rare Disease Group, Broad Institute 0 2 0 0 0 0 1 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 0 0 1 0 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 0 0 0 0 0 1 1
Michaelson Lab,University of Iowa 0 0 0 0 0 0 1 1
Molecular Pathology Diagnostics Labratory,University of Iowa Hospitals & Clinics 0 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 6 0 1 0 0 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 0 0 0 1 0 0 0 1
Institute for Human Genetics, University Hospital Essen 0 0 0 1 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 0 0 1 0 0 0 1
Genesis Genome Database 0 0 0 0 0 0 1 1
UT Southwestern Medical Center, UT Southwestern Medical Center 0 0 0 0 0 1 0 1
Central Laboratory,The First Hospital of Lanzhou University 0 0 0 1 0 0 0 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 0 0 1 0 0 0 1
New York Genome Center 0 1 0 0 0 0 1 1
Molecular Biology Laboratory, Fundació Puigvert 0 0 0 1 0 0 0 1
GenomeConnect - Simons Searchlight 0 5 0 1 0 0 0 1
Dept. Genetics and Cancer, Menzies Institute for Medical Research,University of Tasmania 0 0 0 0 0 0 1 1
Wilkie Group, Clinical Genetics Lab, WIMM,University of Oxford 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 153
Download table as spreadsheet
HGVS dbSNP
CYP2C9*2 rs1799853
CYP2C9*3 rs1057910
NC_012920.1(MT-ATP6):m.9035T>C rs1603222000
NC_012920.1:m.1494C>T rs267606619
NC_012920.1:m.1555A>G rs267606617
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs) rs80359525
NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu) rs141204958
NM_000086.2(CLN3):c.883G>A (p.Glu295Lys) rs121434286
NM_000091.4(COL4A3):c.2083G>A (p.Gly695Arg) rs200287952
NM_000118.3(ENG):c.640G>A (p.Gly214Ser) rs150932144
NM_000202.8(IDS):c.641C>T (p.Thr214Met) rs61736892
NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg) rs200625851
NM_000256.3(MYBPC3):c.1544A>G (p.Asn515Ser) rs181834806
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr) rs199865688
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys) rs138049878
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937
NM_000277.3(PAH):c.842+1G>A rs5030852
NM_000310.4(PPT1):c.541G>A rs148412181
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603
NM_000337.5(SGCD):c.451T>G (p.Ser151Ala) rs121909298
NM_000346.4(SOX9):c.508C>T (p.Pro170Ser) rs866706988
NM_000359.3(TGM1):c.968G>A (p.Arg323Gln) rs121918717
NM_000370.3(TTPA):c.744del (p.Glu249fs) rs397515377
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr) rs104894363
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala) rs143139258
NM_000489.5(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) rs6475
NM_000528.4(MAN2B1):c.1645-1G>A rs938576591
NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs) rs797044680
NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter) rs370803545
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000755.5(CRAT):c.962G>A (p.Arg321His) rs138665095
NM_001001557.4(GDF6):c.1304C>T (p.Ala435Val) rs140782427
NM_001011658.4(TRAPPC2):c.-97G>A rs746032983
NM_001029882.3(AHDC1):c.2062C>T (p.Arg688Ter) rs1165205177
NM_001032221.6(STXBP1):c.325+2_325+3del rs1554776853
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val)
NM_001040142.2(SCN2A):c.606-159A>G rs1553567473
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001110556.2(FLNA):c.4660G>A (p.Gly1554Arg) rs1603360542
NM_001110792.2(MECP2):c.1000C>T (p.Pro334Ser) rs61751449
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys) rs121908955
NM_001160372.4(TRAPPC9):c.1414C>T (p.Arg472Ter) rs267607137
NM_001190737.2(NFIB):c.376A>G (p.Lys126Glu) rs1554709662
NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter) rs1135401808
NM_001347721.2(DYRK1A):c.924+4_924+7del rs1555984461
NM_001360.2(DHCR7):c.1139G>A (p.Cys380Tyr) rs779709646
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001371279.1(REEP1):c.512del (p.Pro171fs) rs387906263
NM_001383.4(DPH1):c.374T>C (p.Leu125Pro) rs200530055
NM_001759.4(CCND2):c.839C>T (p.Thr280Ile) rs587777620
NM_001848.2(COL6A1):c.717+4A>G rs762867111
NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys) rs576404380
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs) rs397516706
NM_002633.3(PGM1):c.1495C>T (p.Arg499Ter)
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg) rs886037952
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012
NM_003036.4(SKI):c.539C>T (p.Thr180Met) rs863223722
NM_003042.4(SLC6A1):c.1377C>A (p.Ser459Arg) rs1064795099
NM_003309.4(TSPYL1):c.725_726del (p.Val242fs) rs775957625
NM_003611.2(OFD1):c.312+1delG rs312262822
NM_003611.3(OFD1):c.431dup (p.Leu144fs) rs312262834
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser) rs878853160
NM_004044.7(ATIC):c.406G>A (p.Ala136Thr) rs1575116846
NM_004321.7(KIF1A):c.643A>C (p.Ser215Arg) rs672601367
NM_004321.7(KIF1A):c.914C>T (p.Pro305Leu) rs1131690804
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998
NM_004519.4(KCNQ3):c.1599dup (p.Phe534fs) rs762289015
NM_004615.3(TSPAN7):c.515C>A (p.Pro172His) rs104894951
NM_004646.3(NPHS1):c.2417C>A (p.Ala806Asp) rs386833912
NM_004975.4(KCNB1):c.1183G>A (p.Gly395Arg) rs959316981
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro) rs139632595
NM_005249.5(FOXG1):c.670G>A (p.Gly224Ser) rs727503935
NM_005262.3(GFER):c.219del (p.Cys74fs) rs1597063051
NM_005262.3(GFER):c.259-25_259-24del rs1597063303
NM_005591.4(MRE11):c.350A>G (p.Asn117Ser) rs137852760
NM_005862.3(STAG1):c.659A>G (p.His220Arg) rs1057519153
NM_005933.4(KMT2A):c.3464G>A (p.Cys1155Tyr) rs1057518074
NM_006086.4(TUBB3):c.292G>A (p.Gly98Ser) rs587784505
NM_006086.4(TUBB3):c.785G>A (p.Arg262His) rs864321716
NM_006158.4(NEFL):c.293A>G (p.Asn98Ser) rs58982919
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006245.4(PPP2R5D):c.632A>C (p.Gln211Pro)
NM_006516.3(SLC2A1):c.376C>T (p.Arg126Cys) rs80359818
NM_006593.4(TBR1):c.1118A>G (p.Gln373Arg) rs1553510492
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs) rs869312704
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter) rs199469465
NM_006796.2(AFG3L2):c.1961C>T (p.Thr654Ile) rs151344513
NM_006940.6(SOX5):c.637C>T (p.Arg213Ter) rs767241917
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala) rs200533370
NM_007144.3(PCGF2):c.194C>T (p.Pro65Leu) rs1567941252
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048
NM_012062.5(DNM1L):c.1085G>A (p.Gly362Asp) rs879255685
NM_014225.6(PPP2R1A):c.656C>T (p.Ser219Leu) rs1555791268
NM_014423.4(AFF4):c.761C>G (p.Thr254Ser) rs786205679
NM_014423.4(AFF4):c.772C>T (p.Arg258Trp) rs786205680
NM_014846.4(WASHC5):c.1771T>C (p.Ser591Pro) rs1554593901
NM_015133.5(MAPK8IP3):c.1732C>T (p.Arg578Cys) rs1567203083
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val) rs72552293
NM_015243.2(VPS13B):c.916_917del (p.Asp306fs) rs386834117
NM_015338.5(ASXL1):c.1934dup (p.Gly646fs) rs750318549
NM_015978.3(TNNI3K):c.2302G>A (p.Glu768Lys) rs202238194
NM_017654.4(SAMD9):c.2945G>A (p.Arg982His) rs1554336974
NM_017890.4(VPS13B):c.10515_10516del (p.Cys3506fs) rs1554581504
NM_017890.4(VPS13B):c.1915C>T (p.Arg639Ter) rs764776104
NM_017890.4(VPS13B):c.6732+1G>A rs180177366
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_018297.4(NGLY1):c.931G>A (p.Glu311Lys) rs201791209
NM_018400.3(SCN3B):c.29T>C (p.Leu10Pro) rs121918282
NM_019026.6(TMCO1):c.139_140del (p.Gln46_Ser47insTer) rs752176040
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527
NM_020732.3(ARID1B):c.5267_5270del (p.Glu1756fs) rs1583513256
NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp) rs587777695
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903
NM_021815.5(SLC5A7):c.123_126del (p.Ala41_Ile42insTer) rs886039767
NM_022893.4(BCL11A):c.154C>T (p.Gln52Ter) rs886037868
NM_024339.5(THOC6):c.135C>A (p.Tyr45Ter) rs772533643
NM_024339.5(THOC6):c.569G>A (p.Gly190Glu) rs199795381
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679
NM_024577.3(SH3TC2):c.1972C>T (p.Arg658Cys) rs80338926
NM_024665.6(TBL1XR1):c.974G>A (p.Cys325Tyr) rs1553810255
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594
NM_024757.5(EHMT1):c.673C>T (p.Arg225Ter) rs879255531
NM_025137.4(SPG11):c.1235C>G (p.Ser412Ter) rs312262723
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668
NM_033629.6(TREX1):c.397del (p.Leu133fs) rs78762691
NM_053025.4(MYLK):c.505C>T (p.Arg169Ter) rs778050996
NM_078480.3(PUF60):c.1381-2A>G rs1057518681
NM_078480.3(PUF60):c.24+1G>C rs1064795388
NM_138477.4(CDAN1):c.3389C>T (p.Pro1130Leu) rs80338699
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys) rs148617572
NM_138694.4(PKHD1):c.5521G>A (p.Glu1841Lys) rs913487671
NM_144997.7(FLCN):c.1285dup (p.His429fs) rs80338682
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr) rs41419545
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val) rs587777219
NM_172201.1(KCNE2):c.170T>C (p.Ile57Thr) rs74315448
NM_176787.5(PIGN):c.654T>G (p.His218Gln) rs1035743375
NM_177550.4(SLC13A5):c.1463T>C (p.Leu488Pro) rs587777578
NM_177550.4(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569
NM_177550.4(SLC13A5):c.680C>T (p.Thr227Met) rs587777577
NM_181798.1(KCNQ1):c.143_153dup (p.Gly52fs) rs763462603
NM_181798.1(KCNQ1):c.808C>T (p.Arg270Trp) rs199472776
NM_182931.3(KMT2E):c.1099_1103dup (p.Glu369fs)
NM_194318.4(B3GLCT):c.660+1G>A rs80338851
Single allele

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