ClinVar Miner

Variants from Clinical Genetics Laboratory, University Hospital Schleswig-Holstein with conflicting interpretations

Location: Germany  Primary collection method: clinical testing
Minimum review status of the submission from Clinical Genetics Laboratory, University Hospital Schleswig-Holstein: Collection method of the submission from Clinical Genetics Laboratory, University Hospital Schleswig-Holstein:
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
615 137 7 106 1 2 44 143

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
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein pathogenic likely pathogenic uncertain significance likely benign benign protective other
pathogenic 6 76 10 1 2 0 1
likely pathogenic 30 1 18 0 0 0 0
uncertain significance 6 9 0 1 0 1 0

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
OMIM 0 68 3 12 0 2 4 21
Labcorp Genetics (formerly Invitae), Labcorp 0 79 2 6 0 0 6 14
Institute of Human Genetics, University of Leipzig Medical Center 0 49 0 10 0 0 2 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 48 0 8 0 0 3 11
Solve-RD Consortium 0 0 0 10 0 0 0 10
Department of Pathology and Laboratory Medicine, Sinai Health System 0 11 1 6 0 0 1 8
Fulgent Genetics, Fulgent Genetics 0 37 0 6 0 0 2 8
3billion 0 46 0 7 0 0 0 7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 7 0 5 0 0 2 7
Baylor Genetics 0 33 0 3 0 0 3 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 9 0 3 0 0 3 6
Department of Human Genetics, Hannover Medical School 0 11 0 5 0 0 0 5
Institute of Human Genetics Munich, TUM University Hospital 0 25 0 3 0 0 2 5
MGZ Medical Genetics Center 0 34 0 1 0 0 3 4
MVZ Martinsried, Medicover Genetics 0 0 0 2 0 0 2 4
Revvity Omics, Revvity 0 20 0 4 0 0 0 4
SIB Swiss Institute of Bioinformatics 0 0 0 4 0 0 0 4
Variantyx, Inc. 0 20 1 3 0 0 0 4
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 7 0 3 0 0 0 3
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 0 0 2 0 0 1 3
Centre of Medical Genetics, University Hospital Muenster 0 5 0 3 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 9 0 3 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 0 11 0 2 0 0 1 3
Genome-Nilou Lab 0 9 0 3 0 0 0 3
Genomics England Pilot Project, Genomics England 0 3 0 3 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 16 0 2 0 0 1 3
Illumina Laboratory Services, Illumina 0 18 0 1 1 0 1 3
LDLR-LOVD, British Heart Foundation 0 0 0 3 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 17 0 3 0 0 0 3
Medical and Scientific Branch, Hong Kong Genome Institute 0 2 0 3 0 0 0 3
Mendelics 0 16 0 2 0 0 1 3
New York Genome Center 0 5 0 0 0 0 3 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 6 0 1 0 0 1 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 10 0 2 0 0 0 2
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 0 0 0 2 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 7 0 2 0 0 0 2
Counsyl 0 10 0 2 0 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 0 3 0 1 0 0 1 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 7 0 1 0 0 1 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 4 0 0 0 0 2 2
Institute of Immunology and Genetics Kaiserslautern 0 20 0 2 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 12 0 1 0 0 1 2
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 0 0 2 0 0 0 2
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II 0 0 0 2 0 0 0 2
MVZ Medizinische Genetik Mainz 0 2 0 0 0 0 2 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 2 0 2 0 0 0 2
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 0 0 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 9 0 1 0 0 1 2
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 2 0 0 0 2
Robarts Research Institute, Western University 0 0 0 2 0 0 0 2
deCODE genetics, Amgen 0 2 0 2 0 0 0 2
Al Jawhara Center for Molecular Medicine, Arabian Gulf University 0 0 0 0 0 0 1 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 0 1 0 0 0 1
Blueprint Genetics 0 5 0 1 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 0 0 1 0 0 0 1
Center of Human Genetics, Hôpital Erasme 0 5 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 3 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 8 0 0 0 0 1 1
Clinical Genomics Labs, University Health Network 0 0 0 0 0 0 1 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 2 0 1 0 0 0 1
Department of Laboratory Medicine and Genetics, Samsung Medical Center 0 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1 1
Fundacion Hipercolesterolemia Familiar 0 0 0 1 0 0 0 1
Genetic Foundation of Khorasan Razavi (GFKR) 0 0 0 1 0 0 0 1
Genomenon, Inc, Genomenon, Inc 0 0 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 3 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 7 0 1 0 0 0 1
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 1 0 1 0 0 0 1
Iberoamerican FH Network 0 0 0 1 0 0 0 1
Inherited Neuropathy Consortium Ii, University Of Miami 0 1 0 0 0 0 1 1
Institute for Integrative and Experimental Genomics, University of Luebeck 0 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 4 0 1 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 0 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 15 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 3 0 1 0 0 0 1
Laboratoire Génétique Moléculaire, CHRU TOURS 0 1 0 0 0 0 1 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 6 0 1 0 0 0 1
Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics 0 0 0 1 0 0 0 1
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine 0 0 0 1 0 0 0 1
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 0 0 0 1 0 0 0 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 1 0 1 0 0 0 1
Molecular Diagnostics Laboratory, Fox Chase Cancer Center - Temple Health 0 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 1 0 0 0 1
Natera, Inc. 0 20 0 1 0 0 0 1
National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center 0 0 0 1 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 0 2 0 1 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 5 0 1 0 0 0 1
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 0 1 0 0 0 1
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana 0 0 0 1 0 0 0 1
Otogenetics 0 1 0 0 0 0 1 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 7 0 1 0 0 0 1
Prenatal Diagnosis Center, Inner Mongolia Medical University 0 0 0 1 0 0 0 1
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 0 0 1 0 0 0 1
Sharon lab, Hadassah-Hebrew University Medical Center 0 2 0 1 0 0 0 1
Suma Genomics 0 1 0 0 0 0 1 1
Sung Lab, Department of Medicine, Roswell Park Comprehensive Cancer Center 0 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 10 0 1 0 0 1 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 40 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 6 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 143
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03738
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025 0.01762
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00391
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00364
NM_006715.4(MAN2C1):c.2303G>A (p.Arg768Gln) rs62029711 0.00344
NM_025152.3(NUBPL):c.815-27T>C rs118161496 0.00343
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg) rs104893836 0.00236
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00178
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00164
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu) rs138213197 0.00160
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met) rs58331765 0.00136
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00131
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu) rs139260335 0.00057
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln) rs5742904 0.00028
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys) rs200945460 0.00019
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_001363711.2(DUOX2):c.1126C>T (p.Arg376Trp) rs119472029 0.00014
NM_016239.4(MYO15A):c.8090T>C (p.Val2697Ala) rs200451098 0.00013
NM_016222.4(DDX41):c.3G>A (p.Met1Ile) rs141601766 0.00012
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565 0.00010
NM_000829.4(GRIA4):c.2090G>A (p.Arg697Gln) rs765556214 0.00005
NM_001171613.2(PREPL):c.40C>T (p.Gln14Ter) rs200761047 0.00005
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) rs104894080 0.00005
NM_025103.4(IFT74):c.1685-1G>T rs200699377 0.00005
NM_000169.3(GLA):c.644A>G (p.Asn215Ser) rs28935197 0.00004
NM_000283.4(PDE6B):c.1798G>A (p.Asp600Asn) rs764605140 0.00004
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met) rs118192177 0.00004
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) rs62635654 0.00004
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu) rs137929307 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_024334.3(TMEM43):c.1114C>T (p.Arg372Ter) rs773224617 0.00003
NM_000527.5(LDLR):c.268G>A (p.Asp90Asn) rs749038326 0.00002
NM_000875.5(IGF1R):c.2216G>A (p.Arg739Gln) rs121912429 0.00002
NM_018116.4(MSTO1):c.716C>A (p.Ser239Tyr) rs764871960 0.00002
NM_030662.4(MAP2K2):c.528G>A (p.Ala176=) rs767939999 0.00002
NM_206933.4(USH2A):c.4732C>T (p.Arg1578Cys) rs201529124 0.00002
NC_000011.10:g.47335082_47335083del rs397515990 0.00001
NM_000070.3(CAPN3):c.1622G>A (p.Arg541Gln) rs398123143 0.00001
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter) rs397516037 0.00001
NM_000260.4(MYO7A):c.1138G>A (p.Glu380Lys) rs876657913 0.00001
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His) rs111033437 0.00001
NM_000372.5(TYR):c.1255G>A (p.Gly419Arg) rs61754392 0.00001
NM_000527.5(LDLR):c.761A>C (p.Gln254Pro) rs879254667 0.00001
NM_001005373.4(LRSAM1):c.1279C>T (p.Arg427Ter) rs138226428 0.00001
NM_001122764.3(PPOX):c.503G>A (p.Arg168His) rs41270025 0.00001
NM_001142800.2(EYS):c.4045C>T (p.Arg1349Ter) rs930421180 0.00001
NM_001256317.3(TMPRSS3):c.1340T>C (p.Met447Thr) rs201018751 0.00001
NM_001267550.2(TTN):c.83416C>T (p.Arg27806Ter) rs886055237 0.00001
NM_001287491.2(TET3):c.5030C>T (p.Pro1677Leu) rs1691236972 0.00001
NM_001609.4(ACADSB):c.303+3A>G rs1345480688 0.00001
NM_001849.4(COL6A2):c.946G>A (p.Gly316Ser) rs762882543 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_003119.4(SPG7):c.759-2A>G rs770299071 0.00001
NM_004211.5(SLC6A5):c.2152G>A (p.Gly718Arg) rs777399866 0.00001
NM_006618.5(KDM5B):c.3139C>T (p.Arg1047Ter) rs750775126 0.00001
NM_012179.4(FBXO7):c.133C>T (p.Arg45Ter) rs1370252127 0.00001
NM_014249.4(NR2E3):c.166G>A (p.Gly56Arg) rs121912631 0.00001
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) rs387907196 0.00001
NM_018082.6(POLR3B):c.2302C>T (p.Arg768Cys) rs371453512 0.00001
NM_024884.3(L2HGDH):c.905C>T (p.Pro302Leu) rs118204020 0.00001
NM_057175.5(NAA15):c.239_240del (p.His80fs) rs779009256 0.00001
NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp) rs267607017 0.00001
NM_198503.5(KCNT2):c.1621C>T (p.Arg541Ter) rs528303127 0.00001
NC_012920.1(MT-TL1):m.3243A>G rs199474657
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met) rs1569540704
NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del) rs80358233
NM_000138.5(FBN1):c.6331T>C (p.Cys2111Arg) rs363815
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000214.3(JAG1):c.713G>A (p.Cys238Tyr) rs2122620330
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000264.5(PTCH1):c.3921del (p.Arg1308fs) rs761353734
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del) rs749697698
NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter) rs118203542
NM_001007527.2(LMBRD2):c.1448G>A (p.Arg483His) rs2111857835
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln) rs794728811
NM_001042603.3(KDM5A):c.1726C>T (p.Gln576Ter) rs773333271
NM_001080.3(ALDH5A1):c.1402+1G>T rs762290992
NM_001110556.2(FLNA):c.382G>A (p.Ala128Thr) rs1603363301
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) rs1057520918
NM_001134407.3(GRIN2A):c.1492G>A (p.Gly498Ser) rs757713617
NM_001134673.4(NFIA):c.361C>T (p.Arg121Cys) rs886039429
NM_001159699.2(FHL1):c.720C>G (p.Cys240Trp) rs122458141
NM_001172509.2(SATB2):c.262C>T (p.Arg88Trp)
NM_001267550.2(TTN):c.54406_54409del (p.Gln18136fs) rs796943170
NM_001276345.2(TNNT2):c.446G>A (p.Arg149His) rs397516466
NM_001282531.3(ADNP):c.1540T>G (p.Cys514Gly) rs2122752568
NM_001286445.3(RIPOR2):c.1633_1644del (p.Gln545_Lys548del) rs760676508
NM_001347721.2(DYRK1A):c.1635_1636del (p.His545fs) rs1601319352
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs) rs567500345
NM_001367721.1(CASK):c.464C>T (p.Ser155Leu) rs2519234687
NM_001370259.2(MEN1):c.773A>C (p.Gln258Pro)
NM_001374828.1(ARID1B):c.5939_5942del (p.Lys1980fs) rs886041706
NM_001377142.1(PLCB4):c.1223T>C (p.Phe408Ser) rs2148407785
NM_001378969.1(KCND3):c.1111G>A (p.Gly371Arg) rs1057521793
NM_001385012.1(NBEA):c.8596C>T (p.Arg2866Ter) rs1288199769
NM_001453.3(FOXC1):c.388C>T (p.Leu130Phe) rs121909338
NM_001987.5(ETV6):c.641C>T (p.Pro214Leu) rs724159947
NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter) rs138726443
NM_002047.4(GARS1):c.1000A>T (p.Ile334Phe) rs1554338260
NM_002576.5(PAK1):c.391T>A (p.Tyr131Asn) rs2137081759
NM_003104.6(SORD):c.757del (p.Ala253fs) rs55901542
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004380.3(CREBBP):c.5600G>A (p.Arg1867Gln) rs1131691326
NM_004380.3(CREBBP):c.5615T>C (p.Met1872Thr) rs879255381
NM_004975.4(KCNB1):c.1297C>T (p.Arg433Ter) rs1064794764
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) rs387906930
NM_006009.4(TUBA1A):c.362G>A (p.Arg121Gln) rs2121246284
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006261.5(PROP1):c.301_302del (p.Leu102fs) rs193922688
NM_006772.3(SYNGAP1):c.2764C>T (p.Arg922Ter) rs1554122244
NM_006895.3(HNMT):c.623T>C (p.Leu208Pro) rs745756308
NM_007118.4(TRIO):c.6153+1G>A rs1755124330
NM_007289.4(MME):c.716_717del (p.Lys239fs) rs2108261555
NM_013275.6(ANKRD11):c.7735C>T (p.Arg2579Cys) rs1567537413
NM_014458.4(KLHL20):c.1069G>A (p.Gly357Arg) rs1673582111
NM_014946.4(SPAST):c.1676G>A (p.Gly559Asp) rs864622179
NM_015047.3(EMC1):c.1978C>T (p.Arg660Ter) rs201271494
NM_017635.5(KMT5B):c.840+1_840+5del rs2153052061
NM_017780.4(CHD7):c.8077-2A>G rs1806173195
NM_017934.7(PHIP):c.328C>T (p.Arg110Cys) rs768324201
NM_018684.4(ZC4H2):c.617G>T (p.Cys206Phe) rs1064795753
NM_018972.4(GDAP1):c.194A>G (p.Glu65Gly) rs2131496131
NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His) rs147001633
NM_022834.5(VWA1):c.462del (p.Met155fs) rs760281341
NM_024675.4(PALB2):c.172_175del (p.Gln60fs) rs180177143
NM_030662.4(MAP2K2):c.404G>T (p.Gly135Val) rs2041140884
NM_031407.7(HUWE1):c.9209G>A (p.Arg3070His) rs2061745581
NM_130837.3(OPA1):c.2995G>T (p.Glu999Ter) rs2475490408
NM_133433.4(NIPBL):c.5808+5G>A rs2149704635
NM_138927.4(SON):c.3334C>T (p.Arg1112Ter) rs1064796472
NM_145207.3(AFG2A):c.1883A>G (p.Asp628Gly) rs768528444
NM_145207.3(AFG2A):c.1A>C (p.Met1Leu) rs552219028
NM_145239.3(PRRT2):c.649dup (p.Arg217fs) rs587778771
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp) rs1555873985
NM_213599.3(ANO5):c.191dup (p.Asn64fs) rs137854521

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