ClinVar Miner

Variants from Laboratory of Medical Genetics, National & Kapodistrian University of Athens with conflicting interpretations

Location: Greece  Primary collection method: clinical testing
Minimum review status of the submission from Laboratory of Medical Genetics, National & Kapodistrian University of Athens: Collection method of the submission from Laboratory of Medical Genetics, National & Kapodistrian University of Athens:
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
644 249 1 114 11 5 53 167

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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens pathogenic likely pathogenic uncertain significance likely benign benign drug response established risk allele risk factor
pathogenic 1 86 19 0 0 0 0 0
likely pathogenic 28 0 24 2 1 1 1 2
uncertain significance 6 3 0 7 5 0 0 0
likely benign 0 0 2 0 0 0 0 0
affects 1 1 1 0 0 0 0 0
likely risk allele 0 0 0 0 0 0 0 1
risk factor 0 0 0 1 1 0 0 0

Submitter to submitter summary #

Total submitters: 107
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 0 134 0 17 8 1 12 38
OMIM 0 118 0 12 0 2 4 18
Institute of Human Genetics, University of Leipzig Medical Center 0 32 0 11 0 0 2 13
Genome-Nilou Lab 0 28 0 9 2 0 2 13
Baylor Genetics 0 57 0 8 0 1 3 12
Mendelics 0 23 0 6 0 2 1 9
Counsyl 0 12 0 2 1 0 4 7
Natera, Inc. 0 29 0 1 3 0 3 7
Center for Medical Genetics Ghent, University of Ghent 0 4 0 2 0 0 5 7
Revvity Omics, Revvity 0 26 0 4 0 0 2 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 40 0 5 0 0 1 6
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 25 0 6 0 0 0 6
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 17 0 6 0 0 0 6
Fulgent Genetics, Fulgent Genetics 0 37 0 4 0 1 0 5
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 5 0 0 0 5
3billion 0 57 0 5 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 37 0 2 0 0 2 4
Illumina Laboratory Services, Illumina 0 26 0 1 1 1 1 4
UCLA Clinical Genomics Center, UCLA 0 5 0 4 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 20 0 2 0 1 1 4
SIB Swiss Institute of Bioinformatics 0 6 0 4 0 0 0 4
Myriad Genetics, Inc. 0 13 0 3 0 0 1 4
MGZ Medical Genetics Center 0 32 0 3 0 0 0 3
Institute of Medical Molecular Genetics, University of Zurich 0 0 0 3 0 0 0 3
Centre of Medical Genetics, University of Antwerp 0 3 0 3 0 0 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 3 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 10 0 3 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 23 0 1 0 0 2 3
Genomics England Pilot Project, Genomics England 0 5 0 3 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 0 3 0 1 1 1 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 20 0 2 0 0 0 2
LDLR-LOVD, British Heart Foundation 0 1 0 1 1 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 5 0 1 0 1 0 2
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 1 0 2 0 0 0 2
Color Diagnostics, LLC DBA Color Health 0 1 0 1 1 0 0 2
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 1 0 1 0 0 1 2
Robarts Research Institute, Western University 0 1 0 1 1 0 0 2
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 1 1 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 11 0 1 0 0 1 2
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 1 0 1 1 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 12 0 2 0 0 0 2
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 0 0 0 2 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 6 0 1 0 0 1 2
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia 0 0 0 1 0 0 1 2
Molecular Biology Laboratory, Fundació Puigvert 0 2 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 16 0 2 0 0 0 2
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 0 0 0 0 2 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 8 0 1 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 17 0 1 0 0 0 1
GeneDx 0 0 0 1 0 0 0 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 3 0 1 0 0 0 1
PreventionGenetics, part of Exact Sciences 0 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 2 0 0 0 1 0 1
MyeliNeuroGene Lab, McGill University Health Center Research Institute 0 0 0 1 0 0 0 1
GeneReviews 0 45 1 0 0 0 0 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 0 1 0 0 0 1
PharmGKB 0 0 0 0 0 1 0 1
RettBASE 0 3 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 5 0 1 0 0 0 1
Center for Genetic Medicine Research, Children's National Medical Center 0 0 0 1 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 0 2 0 0 0 0 1 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 5 0 0 0 0 1 1
Hadassah Hebrew University Medical Center 0 1 0 1 0 0 0 1
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 1 0 1 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 6 0 1 0 0 0 1
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 0 2 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 11 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 6 0 1 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 2 0 1 0 0 0 1
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 0 2 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 1 0 1
Fundacion Hipercolesterolemia Familiar 0 0 0 1 0 0 0 1
Iberoamerican FH Network 0 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 2 0 0 0 1 0 1
Pediatric Metabolic Diseases, Hacettepe University 0 1 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 2 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 9 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 3 0 1 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 1 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 2 0 0 0 1 0 1
Genomic Medicine Lab, University of California San Francisco 0 8 0 1 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 0 0 1 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 0 3 0 1 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 2 0 1 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 2 0 0 0 0 1 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 8 0 0 0 0 1 1
Genomics Facility, Ludwig-Maximilians-Universität München 0 0 0 0 0 0 1 1
Center of Excellence for Medical Genomics, Chulalongkorn University 0 2 0 1 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 2 0 0 0 0 1 1
Lifecell International Pvt. Ltd 0 8 0 1 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 0 2 0 1 0 0 0 1
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel 0 1 0 1 0 0 0 1
Suma Genomics 0 6 0 0 0 0 1 1
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen 0 0 0 0 0 0 1 1
Bioinformatics Unit, Institut Pasteur de Montevideo 0 0 0 1 0 0 0 1
DASA 0 5 0 1 0 0 0 1
European Hospital Georges Pompidou Genetics Department, Assistance Publique - Hôpitaux de Paris AP-HP 0 1 0 1 0 0 0 1
Eurofins-Biomnis 0 0 0 1 0 0 0 1
ClinGen FBN1 Variant Curation Expert Panel, ClinGen 0 0 0 1 0 0 0 1
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences 0 2 0 0 0 0 1 1
Arcensus 0 0 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
Narges Medical Genetic and Prenatal Diagnosis Lab 0 0 0 1 0 0 0 1
Centre for Population Genomics, CPG 0 2 0 1 0 0 0 1
All of Us Research Program, National Institutes of Health 0 5 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 167
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014946.4(SPAST):c.131C>T (p.Ser44Leu) rs121908515 0.00521
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_014363.6(SACS):c.13717A>C (p.Asn4573His) rs34382952 0.00326
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln) rs121918817 0.00154
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00149
NM_001849.4(COL6A2):c.511G>A (p.Gly171Arg) rs200710788 0.00116
NM_032317.3(DNAJC30):c.152A>G (p.Tyr51Cys) rs61732167 0.00112
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val) rs146429605 0.00107
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531 0.00075
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His) rs137932199 0.00073
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00072
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529 0.00067
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys) rs137854529 0.00049
NM_000500.9(CYP21A2):c.1447C>T (p.Pro483Ser) rs776989258 0.00047
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00044
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145 0.00044
NM_005422.4(TECTA):c.3743C>T (p.Pro1248Leu) rs138768918 0.00029
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000157.4(GBA1):c.1342G>C (p.Asp448His) rs1064651 0.00020
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168 0.00019
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys) rs61750120 0.00019
NM_000372.5(TYR):c.915C>A (p.Asp305Glu) rs142170797 0.00017
NM_000157.4(GBA1):c.882T>G (p.His294Gln) rs367968666 0.00016
NM_000368.5(TSC1):c.532G>A (p.Val178Ile) rs118203395 0.00014
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu) rs140012781 0.00014
NM_030653.4(DDX11):c.1403dup (p.Ser469fs) rs778363138 0.00013
NM_004369.4(COL6A3):c.6422C>A (p.Pro2141His) rs369169235 0.00010
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) rs28940578 0.00006
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) rs397515912 0.00006
NM_002226.5(JAG2):c.2515G>A (p.Gly839Arg) rs781734780 0.00006
NM_198407.2(GHSR):c.709A>T (p.Arg237Trp) rs199588904 0.00006
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_144997.7(FLCN):c.1265C>T (p.Pro422Leu) rs565447853 0.00005
NM_000083.3(CLCN1):c.1167-10T>C rs543120965 0.00004
NM_000391.4(TPP1):c.889C>T (p.Arg297Trp) rs553122824 0.00004
NM_000030.3(AGXT):c.847-3C>G rs180177286 0.00003
NM_000052.7(ATP7A):c.4073A>G (p.Asn1358Ser) rs1423719687 0.00003
NM_000113.3(TOR1A):c.862C>T (p.Arg288Ter) rs760768475 0.00003
NM_001999.4(FBN2):c.1526G>T (p.Arg509Leu) rs199587570 0.00003
NM_000448.3(RAG1):c.2095C>T (p.Arg699Trp) rs199474676 0.00002
NM_000548.5(TSC2):c.2294C>T (p.Ala765Val) rs886042145 0.00002
NM_006329.4(FBLN5):c.212G>A (p.Arg71Gln) rs121434300 0.00002
NM_014049.5(ACAD9):c.796C>T (p.Arg266Trp) rs753711253 0.00002
NM_019098.5(CNGB3):c.1578+1G>A rs372006750 0.00002
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln) rs121909284 0.00001
NM_000138.5(FBN1):c.6724C>T (p.Arg2242Cys) rs779749926 0.00001
NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter) rs137854466 0.00001
NM_000153.4(GALC):c.749T>C (p.Ile250Thr) rs886039569 0.00001
NM_000264.5(PTCH1):c.1193C>T (p.Ala398Val) rs375098989 0.00001
NM_000512.5(GALNS):c.281G>A (p.Arg94His) rs727503946 0.00001
NM_000512.5(GALNS):c.719A>G (p.Tyr240Cys) rs752039956 0.00001
NM_001080.3(ALDH5A1):c.1226G>A (p.Gly409Asp) rs118203984 0.00001
NM_001165963.4(SCN1A):c.2522C>T (p.Thr841Met) rs750901301 0.00001
NM_001849.4(COL6A2):c.287A>G (p.Tyr96Cys) rs2078408746 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_005199.5(CHRNG):c.715C>T (p.Arg239Cys) rs121912670 0.00001
NM_005609.4(PYGM):c.107T>G (p.Leu36Arg) rs1394188143 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_015915.5(ATL1):c.1483C>T (p.Arg495Trp) rs864622269 0.00001
NM_021830.5(TWNK):c.1387C>T (p.Arg463Trp) rs386834146 0.00001
NM_031885.5(BBS2):c.98C>A (p.Ala33Asp) rs797045155 0.00001
NM_033343.4(LHX4):c.250C>T (p.Arg84Cys) rs121912642 0.00001
NM_033380.3(COL4A5):c.3508G>A (p.Gly1170Ser) rs104886237 0.00001
NM_198239.2(CCN6):c.589G>C (p.Ala197Pro) rs1554313639 0.00001
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met) rs202175091 0.00001
NM_000016.6(ACADM):c.424AAG[2] (p.Lys144del) rs875989857
NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp) rs28936401
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter) rs128624221
NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter) rs72554645
NM_000069.3(CACNA1S):c.2627T>A (p.Val876Glu) rs267606698
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000070.3(CAPN3):c.2148G>T (p.Glu716Asp) rs770894443
NM_000083.3(CLCN1):c.771T>A (p.Tyr257Ter) rs1802495428
NM_000093.5(COL5A1):c.3752dup (p.Pro1253fs) rs786205100
NM_000094.4(COL7A1):c.6022C>T (p.Arg2008Cys) rs1055680335
NM_000135.4(FANCA):c.82G>T (p.Gly28Ter) rs2041102320
NM_000138.5(FBN1):c.266G>A (p.Cys89Tyr) rs112660651
NM_000138.5(FBN1):c.3554G>A (p.Gly1185Asp) rs1555398512
NM_000138.5(FBN1):c.5073AAG[1] (p.Arg1692del) rs1555396789
NM_000138.5(FBN1):c.5726T>C (p.Ile1909Thr) rs794728333
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg) rs363811
NM_000138.5(FBN1):c.7712G>A (p.Cys2571Tyr) rs1555394153
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000232.5(SGCB):c.87_89del (p.Arg30del) rs780654411
NM_000252.3(MTM1):c.1261-10A>G rs397518445
NM_000256.3(MYBPC3):c.821+5G>A rs397516077
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000292.3(PHKA2):c.134G>A (p.Arg45Gln) rs1601781024
NM_000297.4(PKD2):c.1837C>T (p.Gln613Ter) rs2110127334
NM_000303.3(PMM2):c.647A>T (p.Asn216Ile) rs78290141
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg) rs80338708
NM_000350.3(ABCA4):c.6238_6239del (p.Ser2080fs) rs281865382
NM_000368.5(TSC1):c.134T>C (p.Leu45Ser) rs1554820662
NM_000383.4(AIRE):c.916G>A (p.Gly306Arg) rs754932526
NM_000394.4(CRYAA):c.61C>T (p.Arg21Trp) rs397515625
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) rs137852642
NM_000458.4(HNF1B):c.443C>T (p.Ser148Leu)
NM_000512.5(GALNS):c.850TTC[1] (p.Phe285del) rs768664270
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000540.3(RYR1):c.13910C>T (p.Thr4637Ile) rs118192134
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_000628.5(IL10RB):c.173+2T>G rs2123561272
NM_000702.4(ATP1A2):c.2192T>C (p.Met731Thr) rs28933400
NM_000834.5(GRIN2B):c.2459G>C (p.Gly820Ala) rs797044849
NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp) rs104894578
NM_000965.5(RARB):c.1210C>T (p.Gln404Ter) rs1575553547
NM_001040142.2(SCN2A):c.3631G>A (p.Glu1211Lys) rs387906684
NM_001042492.3(NF1):c.1426A>G (p.Lys476Glu) rs2066785949
NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg) rs199474760
NM_001042492.3(NF1):c.3104T>A (p.Met1035Lys) rs137854553
NM_001042492.3(NF1):c.3142T>C (p.Trp1048Arg) rs1555614634
NM_001042492.3(NF1):c.3329_3332del (p.Leu1109_Phe1110insTer) rs2067134264
NM_001042492.3(NF1):c.4578-9T>A rs2067688959
NM_001042492.3(NF1):c.5534T>C (p.Ile1845Thr) rs1060500339
NM_001042492.3(NF1):c.5652T>G (p.Phe1884Leu) rs1567613616
NM_001042492.3(NF1):c.6022G>C (p.Asp2008His) rs786201924
NM_001042492.3(NF1):c.7000G>C (p.Gly2334Arg) rs1597848100
NM_001042492.3(NF1):c.968C>A (p.Ala323Asp) rs2066507556
NM_001079802.2(FKTN):c.1215_1226del (p.Asp406_Val409del) rs1554766855
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001110792.2(MECP2):c.414-3C>G rs267608465
NM_001122681.2(SH3BP2):c.1253C>T (p.Pro418Leu) rs121909146
NM_001134232.2(TMEM106B):c.754G>A (p.Asp252Asn) rs1554310600
NM_001165963.4(SCN1A):c.1060G>C (p.Ala354Pro) rs1698022280
NM_001195553.2(DCX):c.184G>A (p.Asp62Asn) rs104894779
NM_001243177.4(ALDOA):c.1001C>T (p.Ala334Val) rs2151019295
NM_001286704.2(UFM1):c.-273_-271del rs747359907
NM_001320.7(CSNK2B):c.467G>A (p.Gly156Asp) rs2151188873
NM_001378452.1(ITPR1):c.7660G>A (p.Gly2554Arg) rs752281590
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_001555.5(IGSF1):c.2407dup (p.His803fs) rs1603404297
NM_001848.3(COL6A1):c.631C>T (p.Arg211Cys) rs375217284
NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg) rs121912938
NM_002470.4(MYH3):c.2015G>A (p.Arg672His) rs121913617
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg) rs886037952
NM_003238.6(TGFB2):c.905G>A (p.Arg302His) rs1553303213
NM_004006.3(DMD):c.10509_10510del (p.Glu3505fs) rs878854366
NM_004218.4(RAB11B):c.202G>A (p.Ala68Thr) rs1555690804
NM_005465.7(AKT3):c.803T>C (p.Val268Ala) rs1674673024
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln) rs753679297
NM_006772.3(SYNGAP1):c.1676+1G>A rs2151172748
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_006912.6(RIT1):c.270G>A (p.Met90Ile) rs483352822
NM_012062.5(DNM1L):c.346_347del (p.Glu116fs) rs879255687
NM_015100.4(POGZ):c.2989C>T (p.Arg997Ter) rs1553212545
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg) rs1131692228
NM_017534.6(MYH2):c.5630T>C (p.Leu1877Pro) rs2142289928
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_021939.4(FKBP10):c.890_897dup (p.Gly300Ter) rs1567855132
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs) rs2066847
NM_022455.5(NSD1):c.6013C>T (p.Arg2005Ter) rs587784173
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln) rs587784177
NM_024312.5(GNPTAB):c.569A>T (p.Asp190Val) rs34946266
NM_133443.4(GPT2):c.1441G>A (p.Gly481Ser) rs745565332
NM_138694.4(PKHD1):c.8555-2A>G rs1020621286
NM_144773.4(PROKR2):c.58del (p.His20fs) rs587777834
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu) rs886041396
NM_170675.5(MEIS2):c.934_937del (p.Leu312fs) rs1595790647
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp) rs121912496

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