ClinVar Miner

Variants from Medical and Scientific Branch, Hong Kong Genome Institute with conflicting interpretations

Location: Hong Kong  Primary collection method: clinical testing
Minimum review status of the submission from Medical and Scientific Branch, Hong Kong Genome Institute: Collection method of the submission from Medical and Scientific Branch, Hong Kong Genome Institute:
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
188 117 1 150 0 0 31 166

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
Medical and Scientific Branch, Hong Kong Genome Institute pathogenic likely pathogenic uncertain significance likely benign
pathogenic 1 71 9 2
likely pathogenic 79 0 20 0
uncertain significance 0 1 0 0

Submitter to submitter summary #

Total submitters: 127
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 54 1 31 0 0 0 32
Labcorp Genetics (formerly Invitae), Labcorp 0 46 0 28 0 0 2 30
3billion 0 47 0 15 0 0 4 19
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 39 0 18 0 0 0 18
Fulgent Genetics, Fulgent Genetics 0 47 0 15 0 0 1 16
Baylor Genetics 0 36 0 12 0 0 3 15
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 50 0 15 0 0 0 15
Department of Pathology and Laboratory Medicine, Sinai Health System 0 13 0 7 0 0 2 9
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 16 0 6 0 0 3 9
SingHealth Duke-NUS Institute of Precision Medicine 0 4 0 8 0 0 0 8
Juno Genomics, Hangzhou Juno Genomics, Inc 0 50 0 6 0 0 1 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 4 0 0 2 6
Genome-Nilou Lab 0 17 0 4 0 0 2 6
Institute of Human Genetics, University of Leipzig Medical Center 0 18 0 6 0 0 0 6
LDLR-LOVD, British Heart Foundation 0 2 0 6 0 0 0 6
Robarts Research Institute, Western University 0 1 0 5 0 0 1 6
Variantyx, Inc. 0 15 0 6 0 0 0 6
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 4 0 3 0 0 2 5
Counsyl 0 2 0 4 0 0 1 5
Illumina Laboratory Services, Illumina 0 13 0 4 0 0 1 5
Mendelics 0 8 0 4 0 0 1 5
Natera, Inc. 0 22 0 4 0 0 1 5
Revvity Omics, Revvity 0 17 0 5 0 0 0 5
Genomics England Pilot Project, Genomics England 0 1 0 4 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 7 0 3 0 0 1 4
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 0 0 0 4 0 0 0 4
Clinical Genetics Laboratory, Skane University Hospital Lund 0 2 0 3 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 2 0 3 0 0 0 3
Dasa 0 6 0 3 0 0 0 3
Department of Human Genetics, Hannover Medical School 0 6 0 3 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 0 4 0 3 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 7 0 3 0 0 0 3
Institute of Human Genetics Munich, TUM University Hospital 0 15 0 3 0 0 0 3
MGZ Medical Genetics Center 0 12 0 3 0 0 0 3
Myriad Genetics, Inc. 0 21 0 3 0 0 0 3
Ocular Genomics Institute, Massachusetts Eye and Ear 0 4 0 1 0 0 2 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 4 0 3 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 6 0 2 0 0 0 2
All of Us Research Program, National Institutes of Health 0 6 0 2 0 0 0 2
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 1 0 2 0 0 0 2
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia 0 5 0 1 0 0 1 2
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 7 0 1 0 0 1 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 3 0 2 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 2 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 7 0 2 0 0 0 2
Codex Genetics Limited 0 1 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 4 0 1 0 0 1 2
Fundacion Hipercolesterolemia Familiar 0 2 0 2 0 0 0 2
Genomenon, Inc, Genomenon, Inc 0 0 0 1 0 0 1 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 3 0 0 0 0 2 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 4 0 2 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 0 2 0 2 0 0 0 2
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 7 0 2 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 10 0 2 0 0 0 2
NHS Central & South Genomic Laboratory Hub 0 8 0 2 0 0 0 2
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 0 0 2 0 0 0 2
New York Genome Center 0 2 0 2 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 2 0 2 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 4 0 2 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 0 1 0 0 1 2
Amrita Institute of Medical Sciences and Research Centre, Amrita Vishwa Vidyapeetham 0 0 0 0 0 0 1 1
Blueprint Genetics 0 1 0 1 0 0 0 1
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 5 0 1 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 3 0 0 0 0 1 1
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 0 0 1 0 0 0 1
Center of Human Genetics, Hôpital Erasme 0 2 0 1 0 0 0 1
Center of Medical Genetics, Central South University 0 0 0 1 0 0 0 1
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 0 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 6 0 0 0 0 1 1
Centre of Medical Genetics, University Hospital Muenster 0 1 0 1 0 0 0 1
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel 0 3 0 0 0 0 1 1
Clinical Genetics Laboratory, Region Ostergotland 0 1 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 2 0 1 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 4 0 1 0 0 0 1
Color Diagnostics, LLC DBA Color Health 0 5 0 1 0 0 0 1
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 0 0 0 1 0 0 0 1
Department Of Endocrinology, Sanjay Gandhi Postgraduate Institute Of Medical Sciences 0 0 0 1 0 0 0 1
Department of Neurology, Affiliated Hospital of Shandong Second Medical University 0 0 0 1 0 0 0 1
Department of Neurology-Cell Therapy Center, Hanyang University 0 0 0 1 0 0 0 1
Department of Reproductive Genetics, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine 0 2 0 0 0 0 1 1
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital 0 4 0 1 0 0 0 1
Division of Medical Genetics, University of Washington 0 0 0 1 0 0 0 1
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 1 0 1 0 0 0 1
GeneReviews 0 32 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 3 0 0 0 0 1 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 0 2 0 1 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 6 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 3 0 1 0 0 0 1
Iberoamerican FH Network 0 2 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 1 0 0 0 1
Institute of Human Genetics Greifswald, Research Division, University Medicine Greifswald 0 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 0 1 0 0 0 1
Institute of Human Genetics, University of Ulm 0 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 8 0 1 0 0 0 1
Institute of Medical Molecular Genetics, University of Zurich 0 0 0 1 0 0 0 1
Integrating Genomics into Medicine, Frazer Institute, University Of Queensland 0 3 0 0 0 0 1 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 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
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 2 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 7 0 1 0 0 0 1
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 2 0 1 0 0 0 1
Lildballe Lab, Aarhus University Hospital 0 2 0 1 0 0 0 1
Medical Genetics, University of Parma 0 6 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 0 0 1 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 5 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 1 0 0 0 1
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital 0 1 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 11 0 1 0 0 0 1
Newborn Screening Ontario, Children's Hospital of Eastern Ontario (CHEO) 0 3 0 1 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 2 0 1 0 0 0 1
Ophthalmology, Kobe City Eye Hospital 0 0 0 1 0 0 0 1
Pangenia Genomics, Pangenia Inc. 0 2 0 1 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 0 0 1 0 0 0 1
Rare Genetic Disease Lab, Dept of Zoology, Government Postgraduate College Dargai Malakand, Higher Education Govt. of Khyber Pakhtunkhwa 0 0 0 0 0 0 1 1
Reproductive Health Research and Development, BGI Genomics 0 0 0 1 0 0 0 1
Sadaf Naz Human Genetics Laboratory, University of the Punjab 0 0 0 1 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 0 0 1 0 0 0 1
Solve-RD Consortium 0 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 2 0 1 0 0 0 1
Wendy Chung Laboratory, Boston Children's Hospital 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 166
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00944
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00475
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00393
NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu) rs9378251 0.00055
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln) rs5742904 0.00028
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg) rs200672755 0.00016
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp) rs201527662 0.00013
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys) rs201118034 0.00010
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr) rs749909863 0.00007
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter) rs189150283 0.00007
NM_017671.5(FERMT1):c.811C>T (p.Arg271Ter) rs121918293 0.00006
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly) rs200379491 0.00005
NM_000197.2(HSD17B3):c.389A>G (p.Asn130Ser) rs119481079 0.00004
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu) rs28942084 0.00004
NM_001142800.2(EYS):c.6557G>A (p.Gly2186Glu) rs527236068 0.00004
NM_001142800.2(EYS):c.7492G>C (p.Ala2498Pro) rs1311193836 0.00004
NM_001379270.1(CNGA1):c.253del (p.Leu85fs) rs749012133 0.00004
NM_005476.7(GNE):c.527A>T (p.Asp176Val) rs139425890 0.00004
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter) rs121908029 0.00003
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) rs768563000 0.00003
NM_000527.5(LDLR):c.986G>A (p.Cys329Tyr) rs761954844 0.00003
NM_001142800.2(EYS):c.7228+1G>A rs758899480 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878 0.00003
NM_006005.3(WFS1):c.2206G>A (p.Gly736Ser) rs71532864 0.00003
NM_017807.4(OSGEP):c.740G>A (p.Arg247Gln) rs773173317 0.00003
NM_058216.3(RAD51C):c.571+5G>A rs145779113 0.00003
NM_024120.5(NDUFAF5):c.836T>G (p.Met279Arg) rs761389904 0.00002
NM_206933.4(USH2A):c.2653C>T (p.His885Tyr) rs746071929 0.00002
NM_000166.6(GJB1):c.-103C>T rs863224971 0.00001
NM_000171.4(GLRA1):c.839G>A (p.Arg280His) rs281864918 0.00001
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp) rs1553925453 0.00001
NM_000516.7(GNAS):c.602G>A (p.Arg201His) rs121913495 0.00001
NM_000527.5(LDLR):c.1241T>G (p.Leu414Arg) rs748554592 0.00001
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp) rs570942190 0.00001
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr) rs28942079 0.00001
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897 0.00001
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter) rs760703505 0.00001
NM_001042492.3(NF1):c.5812+332A>G rs863224491 0.00001
NM_001298.3(CNGA3):c.396-11C>G rs545114991 0.00001
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp) rs119103229 0.00001
NM_001354712.2(THRB):c.1357C>G (p.Pro453Ala) rs28933408 0.00001
NM_001365536.1(SCN9A):c.2521C>T (p.Arg841Ter) rs780673293 0.00001
NM_003060.4(SLC22A5):c.865C>T (p.Arg289Ter) rs386134212 0.00001
NM_003722.5(TP63):c.728G>A (p.Arg243Gln) rs121908836 0.00001
NM_004646.4(NPHS1):c.616C>A (p.Pro206Thr) rs201822740 0.00001
NM_004826.4(ECEL1):c.1810G>A (p.Gly604Arg) rs745378093 0.00001
NM_005198.5(CHKB):c.940C>T (p.Arg314Cys) rs200919604 0.00001
NM_005677.4(COLQ):c.175C>T (p.Pro59Ser) rs763036328 0.00001
NM_007375.4(TARDBP):c.1009A>G (p.Met337Val) rs80356730 0.00001
NM_014585.6(SLC40A1):c.610G>A (p.Gly204Ser) rs387907377 0.00001
NM_018130.3(SHQ1):c.997C>G (p.Leu333Val) rs759531964 0.00001
NM_018486.3(HDAC8):c.932C>T (p.Thr311Met) rs397515417 0.00001
NM_020320.5(RARS2):c.685C>T (p.Arg229Ter) rs769473411 0.00001
NM_020919.4(ALS2):c.3520A>T (p.Lys1174Ter) rs757972700 0.00001
NM_024740.2(ALG9):c.1225del (p.Arg409fs) rs1324062430 0.00001
NM_024818.6(UBA5):c.169A>G (p.Met57Val) rs532178791 0.00001
NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp) rs267607017 0.00001
NM_206933.4(USH2A):c.5572+1G>A rs775293551 0.00001
NM_206933.4(USH2A):c.8254G>A (p.Gly2752Arg) rs201863550 0.00001
NM_207352.4(CYP4V2):c.1091-2A>G rs199476183 0.00001
NM_000020.3(ACVRL1):c.1150C>T (p.Gln384Ter)
NM_000020.3(ACVRL1):c.632G>A (p.Gly211Asp) rs28936687
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs) rs1450394308
NM_000054.7(AVPR2):c.607C>T (p.Arg203Cys) rs104894750
NM_000059.4(BRCA2):c.3010del (p.Ser1004fs) rs730881604
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp) rs868791726
NM_000088.4(COL1A1):c.441dup (p.Gly148fs)
NM_000096.4(CP):c.607+1del rs753254095
NM_000169.3(GLA):c.1059_1061del (p.Met353del)
NM_000169.3(GLA):c.41T>C (p.Leu14Pro) rs730880455
NM_000188.3(HK1):c.1334C>T (p.Ser445Leu) rs1064794848
NM_000297.4(PKD2):c.1094+3_1094+6del rs1553925470
NM_000297.4(PKD2):c.1609C>T (p.Gln537Ter) rs1720124087
NM_000297.4(PKD2):c.2358+1G>A rs2110138755
NM_000348.4(SRD5A2):c.164T>C (p.Leu55Pro) rs121434245
NM_000388.4(CASR):c.2362T>C (p.Phe788Leu) rs104893711
NM_000435.3(NOTCH3):c.865G>T (p.Gly289Cys) rs1253499013
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000500.9(CYP21A2):c.923dup (p.Leu308fs) rs267606756
NM_000527.5(LDLR):c.1586+5G>C rs781362878
NM_000527.5(LDLR):c.313+2dup rs875989897
NM_000539.3(RHO):c.180C>A (p.Tyr60Ter) rs527236101
NM_000546.6(TP53):c.742C>G (p.Arg248Gly) rs121912651
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln) rs28934872
NM_000548.5(TSC2):c.2647C>T (p.Gln883Ter) rs45476100
NM_000548.5(TSC2):c.3284+1G>A rs45517289
NM_000553.6(WRN):c.3244del (p.Val1082fs) rs745905108
NM_000701.8(ATP1A1):c.2576T>G (p.Met859Arg) rs781629728
NM_001007527.2(LMBRD2):c.1448G>A (p.Arg483His) rs2111857835
NM_001009944.3(PKD1):c.10118C>A (p.Ser3373Ter) rs373222937
NM_001009944.3(PKD1):c.10167+25_10167+43del rs1197421698
NM_001009944.3(PKD1):c.11863C>T (p.Gln3955Ter) rs2091493090
NM_001009944.3(PKD1):c.12215_12216del (p.Ser4072fs) rs2544588372
NM_001009944.3(PKD1):c.1295C>T (p.Ala432Val) rs1060499699
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.3202C>T (p.Gln1068Ter) rs2092538738
NM_001009944.3(PKD1):c.3296-1G>A rs1567204631
NM_001009944.3(PKD1):c.341_345del (p.Asn113_Leu114insTer) rs2544884834
NM_001009944.3(PKD1):c.8299C>T (p.Arg2767Cys) rs2092203712
NM_001042492.3(NF1):c.1260+1604A>G rs1131691067
NM_001042492.3(NF1):c.1260+1G>T rs267606603
NM_001042492.3(NF1):c.2087G>A (p.Trp696Ter) rs2151425754
NM_001042492.3(NF1):c.2331G>A (p.Trp777Ter) rs1555613983
NM_001042492.3(NF1):c.2339C>G (p.Thr780Arg) rs199474746
NM_001042492.3(NF1):c.2410-16A>G rs1567848704
NM_001042492.3(NF1):c.4173+278A>G
NM_001042492.3(NF1):c.4340A>G (p.Gln1447Arg) rs786204157
NM_001042492.3(NF1):c.5858T>C (p.Leu1953Pro) rs199474792
NM_001042492.3(NF1):c.7025T>G (p.Leu2342Arg) rs2151561874
NM_001042492.3(NF1):c.7537C>T (p.Gln2513Ter) rs2070170274
NM_001077350.3(NPRL3):c.274C>T (p.Arg92Ter) rs1199226176
NM_001114753.3(ENG):c.765del (p.Tyr258fs) rs1554810232
NM_001142800.2(EYS):c.2486del (p.Ile829fs) rs2150076869
NM_001190274.2(FBXO11):c.2729A>G (p.Asp910Gly) rs1670355281
NM_001271.4(CHD2):c.3409C>T (p.Arg1137Ter) rs773860345
NM_001277115.2(DNAH11):c.5506C>T (p.Arg1836Ter) rs370080269
NM_001288705.3(CSF1R):c.2381T>C (p.Ile794Thr) rs281860274
NM_001323289.2(CDKL5):c.656A>G (p.Gln219Arg) rs786204963
NM_001348800.3(ZBTB20):c.1727dup (p.Pro577fs) rs2108200372
NM_001370259.2(MEN1):c.1664G>A (p.Ser555Asn) rs863224527
NM_001830.4(CLCN4):c.2167C>T (p.Arg723Trp) rs1924842665
NM_001844.5(COL2A1):c.1527+135G>A rs1592218346
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys) rs121912884
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) rs752746786
NM_002226.5(JAG2):c.2134C>T (p.Arg712Cys) rs764146079
NM_002739.5(PRKCG):c.301C>T (p.His101Tyr) rs121918511
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.846C>G (p.Ile282Met) rs397507530
NM_004247.4(EFTUD2):c.568_569del (p.Leu190fs)
NM_004408.4(DNM1):c.112G>A (p.Gly38Ser) rs1131692025
NM_004975.4(KCNB1):c.1041C>G (p.Ser347Arg) rs587777848
NM_004975.4(KCNB1):c.949C>T (p.Leu317Phe) rs2516851941
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg) rs587776934
NM_005208.5(CRYBA1):c.215+1G>T rs1264025914
NM_005343.4(HRAS):c.187_207dup (p.Glu63_Asp69dup) rs587777239
NM_005402.4(RALA):c.73G>A (p.Val25Met) rs1554297905
NM_005476.7(GNE):c.556T>C (p.Tyr186His) rs2489786253
NM_006086.4(TUBB3):c.292G>A (p.Gly98Ser) rs587784505
NM_006160.4(NEUROD2):c.388G>C (p.Glu130Gln) rs1323339153
NM_006516.4(SLC2A1):c.823G>A (p.Ala275Thr) rs121909740
NM_006521.6(TFE3):c.560C>T (p.Thr187Met) rs2064742925
NM_006772.3(SYNGAP1):c.1685C>T (p.Pro562Leu) rs397514670
NM_006908.5(RAC1):c.190T>G (p.Tyr64Asp) rs1554263626
NM_007315.4(STAT1):c.1151G>A (p.Gly384Asp) rs796065052
NM_007375.4(TARDBP):c.892G>A (p.Gly298Ser) rs4884357
NM_014946.4(SPAST):c.1536G>A (p.Glu512=) rs1553319093
NM_015046.7(SETX):c.2332C>T (p.Arg778Ter) rs747501465
NM_015267.4(CUX2):c.1768G>A (p.Glu590Lys) rs1565909334
NM_016284.5(CNOT1):c.76C>T (p.Arg26Ter) rs1597562609
NM_018191.4(RCBTB1):c.707del (p.Asn236fs) rs777630688
NM_020822.3(KCNT1):c.1546A>G (p.Met516Val) rs886041691
NM_022455.5(NSD1):c.6173A>G (p.Tyr2058Cys) rs398124380
NM_024298.5(MBOAT7):c.259C>T (p.Arg87Ter) rs2076453599
NM_024577.4(SH3TC2):c.3676-8G>A rs772823083
NM_031844.3(HNRNPU):c.1780_1781del (p.Cys594fs) rs2527505699
NM_031844.3(HNRNPU):c.643_652del (p.Lys215fs) rs2527894074
NM_033380.3(COL4A5):c.1120G>A (p.Gly374Arg) rs2066342176
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_138383.3(MTSS2):c.2011C>T (p.Arg671Trp) rs753688777
NM_145239.3(PRRT2):c.649dup (p.Arg217fs) rs587778771
NM_170784.3(MKKS):c.175C>T (p.Gln59Ter) rs1334961999
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr) rs796052505
NM_206933.4(USH2A):c.13339A>G (p.Met4447Val) rs139474806
NM_206933.4(USH2A):c.5530C>T (p.Gln1844Ter) rs761075303
NM_206933.4(USH2A):c.7184_7194del (p.Leu2395fs) rs2102499717

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