ClinVar Miner

Variants from Génétique des Maladies du Développement, Hospices Civils de Lyon with conflicting interpretations

Location: France  Primary collection method: clinical testing
Minimum review status of the submission from Génétique des Maladies du Développement, Hospices Civils de Lyon: Collection method of the submission from Génétique des Maladies du Développement, Hospices Civils de Lyon:
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
566 154 0 106 8 1 41 146

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
Génétique des Maladies du Développement, Hospices Civils de Lyon pathogenic likely pathogenic uncertain significance likely benign benign protective other
pathogenic 0 78 14 1 1 1 1
likely pathogenic 28 0 21 0 0 0 0
uncertain significance 2 3 0 1 1 0 0
likely benign 0 1 5 0 0 0 0
benign 0 0 1 0 0 0 0

Submitter to submitter summary #

Total submitters: 113
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
GeneDx 0 89 0 18 2 0 9 28
Labcorp Genetics (formerly Invitae), Labcorp 0 68 0 13 4 0 11 27
Institute of Human Genetics, University of Leipzig Medical Center 0 28 0 11 0 0 2 13
Revvity Omics, Revvity 0 20 0 5 2 0 4 10
CeGaT Center for Human Genetics Tuebingen 0 52 0 4 1 0 4 9
Eurofins Ntd Llc (ga) 0 15 0 3 0 1 5 7
Baylor Genetics 0 19 0 6 0 0 0 6
Genetic Services Laboratory, University of Chicago 0 11 0 4 0 0 2 6
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 5 0 5 0 0 1 5
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 15 0 4 1 0 0 5
3billion 0 30 0 4 0 0 0 4
Athena Diagnostics 0 8 0 3 0 0 2 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 4 0 2 0 0 2 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 5 0 3 0 0 1 4
Illumina Laboratory Services, Illumina 0 7 0 3 0 0 2 4
Juno Genomics, Hangzhou Juno Genomics, Inc 0 4 0 4 0 0 0 4
Mendelics 0 3 0 2 0 0 2 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 10 0 4 0 0 1 4
Solve-RD Consortium 0 0 0 3 0 0 1 4
Ambry Genetics 0 1 0 1 1 0 2 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 10 0 3 0 0 0 3
Genomics England Pilot Project, Genomics England 0 3 0 3 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 15 0 3 0 0 0 3
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 3 0 2 0 0 1 3
MGZ Medical Genetics Center 0 4 0 3 0 0 0 3
OMIM 0 47 0 3 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 4 0 3 0 0 0 3
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 3 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 22 0 2 0 0 1 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 2 0 2 0 0 0 2
Blueprint Genetics 0 1 0 2 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 6 0 2 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 5 0 2 0 0 0 2
Diagnostic Laboratory, Strasbourg University Hospital 0 2 0 1 0 0 1 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 1 0 0 1 2
Fulgent Genetics, Fulgent Genetics 0 12 0 2 0 0 0 2
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 6 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 14 0 1 0 0 1 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 0 1 0 0 1 2
Institute for Human Genetics, University Hospital Essen 0 0 0 1 0 0 1 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 2 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 1 0 0 1 2
Mayo Clinic Laboratories, Mayo Clinic 0 9 0 2 0 0 1 2
Medical and Scientific Branch, Hong Kong Genome Institute 0 1 0 2 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 0 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 12 0 2 0 0 0 2
New York Genome Center 0 6 0 2 0 0 1 2
PreventionGenetics, part of Exact Sciences 0 16 0 1 0 0 1 2
Undiagnosed Diseases Network, NIH 0 4 0 2 0 0 1 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 12 0 1 0 0 1 2
Biochemistry Laboratory of CDMU, Chengde Medical University 0 0 0 1 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 2 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 3 0 1 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 1 0 0 0 0 1 1
Center for Medical Genetics Ghent, University of Ghent 0 0 0 1 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 4 0 1 0 0 0 1
Center for Statistical Genetics, Columbia University 0 0 0 0 0 0 1 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 3 0 1 0 0 0 1
Centre for Population Genomics, CPG 0 4 0 0 0 0 1 1
Centre of Medical Genetics, University Hospital Muenster 0 3 0 1 0 0 0 1
Chao Lab, Baylor College of Medicine, Texas Children's Hospital 0 0 0 1 0 0 0 1
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel 0 3 0 0 0 0 1 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 8 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 1 0 1 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 2 0 1 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 3 0 1 0 0 0 1
Counsyl 0 0 0 1 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 0 1 0 1 0 0 0 1
Cytoplasmic Inheritance Laboratory, Institute of Genetics and Cytology 0 0 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 2 0 1 0 0 0 1
Department of Neurology, Children’s Hospital of Chongqing Medical University 0 0 0 1 0 0 0 1
Department of Neurology, Zibo Changguo Hospital 0 0 0 1 0 0 0 1
Department of Paediatrics at Addenbrookes, Cambridge University Hospitals NHS Foundation Trust (UK) 0 0 0 0 0 0 1 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 7 0 0 1 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 0 0 1 0 0 0 1
Elsea Laboratory, Baylor College of Medicine 0 1 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 2 0 1 0 0 1 1
Genetics Department, University Hospital of Toulouse 0 0 0 1 0 0 0 1
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 0 1 0 1 0 0 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 1 0 1 0 0 0 1
Genome Sciences Centre, British Columbia Cancer Agency 0 0 0 1 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 0 1 0 0 0 1
IU Genetic Testing Laboratories, Indiana University School of Medicine 0 0 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 0 1 0 0 0 1
Institute of Cellular and Molecular Medicine, Copenhagen University 0 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 0 0 0 0 1 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 6 0 1 0 0 0 1
Kids Research, The Children's Hospital at Westmead 0 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 9 0 0 0 0 1 1
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 6 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 4 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 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
Medical Genetics Lab, Policlinico S. Orsola.Malpighi 0 0 0 1 0 0 1 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 0 0 1 0 0 0 1
Molecular Pathology Diagnostics Labratory, University of Iowa Hospitals & Clinics 0 0 0 1 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 1 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 0 4 0 1 0 0 0 1
Prof. Thelma's Laboratory, Department of Genetics, University of Delhi South Campus 0 0 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 0 0 0 0 1 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 0 0 0 1 0 0 1 1
Rare Disease Group, University of Exeter 0 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 2 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 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
Yale Center for Mendelian Genomics, Yale University 0 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 2 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 146
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_006567.5(FARS2):c.667C>T (p.Arg223Cys) rs202060864 0.00028
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00023
NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr) rs201762017 0.00022
NM_213622.4(STAMBP):c.112C>T (p.Arg38Cys) rs143739249 0.00009
NM_020137.5(GRIPAP1):c.1669G>A (p.Glu557Lys) rs185201841 0.00006
NM_032178.3(SLC7A6OS):c.191A>G (p.Gln64Arg) rs190706099 0.00006
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro) rs104894293 0.00005
NM_001110792.2(MECP2):c.1250C>T (p.Pro417Leu) rs61753016 0.00004
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro) rs199628364 0.00004
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr) rs80338958 0.00003
NM_012123.4(MTO1):c.1282G>A (p.Ala428Thr) rs143747297 0.00003
NM_019023.5(PRMT7):c.224C>T (p.Thr75Met) rs371698853 0.00003
NM_003748.4(ALDH4A1):c.1571G>A (p.Arg524Gln) rs757032042 0.00002
NM_001037.5(SCN1B):c.373C>T (p.Arg125Cys) rs1135401736 0.00001
NM_001271.4(CHD2):c.3112C>T (p.Arg1038Cys) rs1024223144 0.00001
NM_002241.5(KCNJ10):c.115G>A (p.Val39Met) rs1274663711 0.00001
NM_006516.4(SLC2A1):c.277C>T (p.Arg93Trp) rs267607061 0.00001
NM_006545.5(NPRL2):c.721-2A>G rs776473269 0.00001
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009 0.00001
NM_020822.3(KCNT1):c.2798G>A (p.Arg933His) rs1023136319 0.00001
NM_000382.3(ALDH3A2):c.798+5G>A rs786204677
NM_000807.4(GABRA2):c.280C>T (p.Arg94Ter)
NM_000814.6(GABRB3):c.551A>G (p.Tyr184Cys) rs2504205415
NM_000836.4(GRIN2D):c.2008C>T (p.Leu670Phe) rs1600982189
NM_000937.5(POLR2A):c.1462G>A (p.Val488Met) rs2070561031
NM_001005273.3(CHD3):c.3515G>A (p.Arg1172Gln) rs1567861501
NM_001029896.2(WDR45):c.397C>T (p.Arg133Ter) rs797046101
NM_001029896.2(WDR45):c.746CCT[1] (p.Ser250del) rs1064793294
NM_001032221.6(STXBP1):c.1461+1G>T rs2538589846
NM_001040142.2(SCN2A):c.1399G>T (p.Ala467Ser) rs745774658
NM_001040142.2(SCN2A):c.3956G>A (p.Arg1319Gln) rs121917753
NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His) rs796053157
NM_001040142.2(SCN2A):c.4976C>T (p.Ala1659Val) rs1060503101
NM_001040142.2(SCN2A):c.5317G>A (p.Ala1773Thr) rs796053162
NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln) rs794727444
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val) rs1553567409
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) rs398122394
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp) rs61748420
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr) rs886037945
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) rs1057520918
NM_001127222.2(CACNA1A):c.4072C>T (p.Arg1358Trp) rs1555745461
NM_001127222.2(CACNA1A):c.4250G>A (p.Arg1417Gln) rs1568471977
NM_001127222.2(CACNA1A):c.6181_6184del (p.Asn2061fs) rs2144524434
NM_001127222.2(CACNA1A):c.6466C>G (p.Arg2156Gly) rs554393704
NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln) rs587777308
NM_001134407.3(GRIN2A):c.1007+1G>A rs397518465
NM_001134407.3(GRIN2A):c.1362del (p.Lys454fs) rs2542835757
NM_001134407.3(GRIN2A):c.2146G>A (p.Ala716Thr) rs762659685
NM_001161352.2(KCNMA1):c.2572C>T (p.Arg858Trp) rs199681253
NM_001165963.4(SCN1A):c.2589+3A>T rs794726775
NM_001165963.4(SCN1A):c.4324G>T (p.Val1442Phe) rs1690574155
NM_001165963.4(SCN1A):c.5066T>C (p.Met1689Thr) rs1559104676
NM_001165963.4(SCN1A):c.580G>A (p.Asp194Asn) rs121917935
NM_001165963.4(SCN1A):c.602+1G>A rs794726827
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys) rs1057521083
NM_001172509.2(SATB2):c.597+1G>A rs1559016679
NM_001182.5(ALDH7A1):c.1112C>T (p.Pro371Leu) rs1272252113
NM_001184880.2(PCDH19):c.369C>G (p.Asn123Lys) rs796052796
NM_001184880.2(PCDH19):c.462C>G (p.Tyr154Ter) rs1569315876
NM_001184880.2(PCDH19):c.593G>T (p.Arg198Leu) rs772837341
NM_001271.4(CHD2):c.2095C>T (p.Arg699Trp) rs1131691515
NM_001321075.3(DLG4):c.1083G>A (p.Ser361=) rs1227093654
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter) rs267608395
NM_001330260.2(SCN8A):c.1093C>T (p.Arg365Cys) rs867660463
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln) rs587780586
NM_001330260.2(SCN8A):c.3967G>A (p.Ala1323Thr) rs794727361
NM_001330260.2(SCN8A):c.4115A>G (p.Asn1372Ser) rs2138904379
NM_001348323.3(TRIP12):c.5801C>T (p.Pro1934Leu) rs747501109
NM_001352027.3(PHF21A):c.1741C>T (p.Arg581Ter) rs1565138763
NM_001353921.2(ARHGEF9):c.331C>T (p.Arg111Trp) rs1556401730
NM_001356.5(DDX3X):c.1595C>T (p.Thr532Met) rs1064795387
NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met) rs1564493599
NM_001370100.5(ZMYND11):c.1798C>T (p.Arg600Trp) rs797044854
NM_001371727.1(GABRB2):c.877C>T (p.Arg293Trp) rs1554093891
NM_001904.4(CTNNB1):c.1759C>T (p.Arg587Ter) rs1064796453
NM_001958.5(EEF1A2):c.364G>A (p.Glu122Lys) rs786205866
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) rs752746786
NM_002074.5(GNB1):c.284T>C (p.Leu95Pro) rs869312824
NM_002397.5(MEF2C):c.44G>A (p.Arg15His) rs1202957297
NM_002641.4(PIGA):c.356G>A (p.Arg119Gln) rs2519331621
NM_002653.5(PITX1):c.793G>T (p.Gly265Cys) rs141612135
NM_003042.4(SLC6A1):c.847G>A (p.Glu283Lys) rs1697587984
NM_004113.6(FGF12):c.148G>A (p.Gly50Ser) rs1553798675
NM_004113.6(FGF12):c.155G>A (p.Arg52His) rs886039903
NM_004408.4(DNM1):c.854T>A (p.Leu285Gln) rs1131691877
NM_004415.4(DSP):c.1783C>T (p.Gln595Ter) rs2533894086
NM_004519.4(KCNQ3):c.689G>A (p.Arg230His) rs749205120
NM_004519.4(KCNQ3):c.956A>G (p.Tyr319Cys) rs1554627218
NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu) rs876657389
NM_004974.4(KCNA2):c.1265_1266del (p.Glu422fs) rs1064796294
NM_004975.4(KCNB1):c.1041C>G (p.Ser347Arg) rs587777848
NM_004975.4(KCNB1):c.1190G>A (p.Cys397Tyr) rs1555889084
NM_004975.4(KCNB1):c.1297C>T (p.Arg433Ter) rs1064794764
NM_004975.4(KCNB1):c.934C>T (p.Arg312Cys) rs886039396
NM_005097.4(LGI1):c.1580_1581del (p.His527fs) rs1364913665
NM_005445.4(SMC3):c.181C>T (p.Arg61Trp) rs866273473
NM_006009.4(TUBA1A):c.26T>C (p.Val9Ala) rs1565627795
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys) rs863225082
NM_006516.4(SLC2A1):c.1196C>G (p.Pro399Arg) rs1643442142
NM_006516.4(SLC2A1):c.1259T>C (p.Met420Thr) rs2124446220
NM_006516.4(SLC2A1):c.940G>A (p.Gly314Ser) rs121909739
NM_006772.3(SYNGAP1):c.1532-3C>G rs1561785573
NM_006772.3(SYNGAP1):c.2764C>T (p.Arg922Ter) rs1554122244
NM_006772.3(SYNGAP1):c.67+1G>T rs2537261082
NM_006772.3(SYNGAP1):c.928G>A (p.Glu310Lys) rs1554121206
NM_006772.3(SYNGAP1):c.980T>C (p.Leu327Pro) rs1581987268
NM_006908.5(RAC1):c.116A>G (p.Asn39Ser) rs1554263624
NM_006914.4(RORB):c.1163T>A (p.Ile388Asn) rs2489648663
NM_006914.4(RORB):c.1224G>A (p.Lys408=) rs2489648843
NM_006922.4(SCN3A):c.1060A>C (p.Lys354Gln) rs1553535457
NM_006940.6(SOX5):c.1711C>T (p.Arg571Trp) rs1565669640
NM_007144.3(PCGF2):c.194C>T (p.Pro65Leu) rs1567941252
NM_007325.5(GRIA3):c.1236A>C (p.Gln412His) rs2045454194
NM_012309.5(SHANK2):c.2439+1G>A rs2058899044
NM_012479.4(YWHAG):c.394C>T (p.Arg132Cys) rs1554616628
NM_014225.6(PPP2R1A):c.656C>T (p.Ser219Leu) rs1555791268
NM_014225.6(PPP2R1A):c.773G>A (p.Arg258His) rs863225094
NM_014458.4(KLHL20):c.1069G>A (p.Gly357Arg) rs1673582111
NM_015047.3(EMC1):c.1134C>A (p.Tyr378Ter) rs778470143
NM_015047.3(EMC1):c.2858T>C (p.Phe953Ser) rs1267383375
NM_015267.4(CUX2):c.1768G>A (p.Glu590Lys) rs1565909334
NM_018486.3(HDAC8):c.1081C>T (p.Arg361Ter) rs1555948969
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His) rs397515404
NM_020822.3(KCNT1):c.2686A>G (p.Met896Val) rs2491038179
NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln) rs886043455
NM_020988.3(GNAO1):c.118G>C (p.Gly40Arg) rs886041715
NM_020988.3(GNAO1):c.680C>T (p.Ala227Val) rs797045599
NM_020988.3(GNAO1):c.904G>A (p.Ala302Thr) rs2143704776
NM_022552.5(DNMT3A):c.1004A>G (p.Lys335Arg) rs2149307214
NM_024757.5(EHMT1):c.3589C>T (p.Arg1197Trp) rs137852727
NM_052874.5(STX1B):c.262G>T (p.Val88Phe) rs995045434
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs) rs587784527
NM_145239.3(PRRT2):c.649dup (p.Arg217fs) rs587778771
NM_152296.5(ATP1A3):c.1825G>T (p.Asp609Tyr) rs2075190697
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) rs1064797245
NM_153747.2(PIGC):c.12_13insTTGTGACTAACA (p.Pro5delinsLeuTer) rs2526991185
NM_170675.5(MEIS2):c.934_937del (p.Leu312fs) rs1595790647
NM_172107.4(KCNQ2):c.1639C>T (p.Arg547Trp) rs796052650
NM_172107.4(KCNQ2):c.1657C>T (p.Arg553Trp) rs759584387
NM_172107.4(KCNQ2):c.394G>A (p.Val132Met) rs1600789325
NM_172107.4(KCNQ2):c.532G>A (p.Ala178Thr) rs1555873790
NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln) rs397514581
NM_198904.4(GABRG2):c.670C>T (p.Arg224Ter) rs1045493304
Single allele

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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.