ClinVar Miner

Variants from SIB Swiss Institute of Bioinformatics with conflicting interpretations

Location: Switzerland — Primary collection method: curation
Minimum review status of the submission from SIB Swiss Institute of Bioinformatics: Collection method of the submission from SIB Swiss Institute of Bioinformatics:
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 Variants with at least 2 submissions 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 kind of conflict
70 79 6 246 23 3 77 331

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
SIB Swiss Institute of Bioinformatics pathogenic likely pathogenic uncertain significance likely benign benign drug response other
pathogenic 4 10 4 0 0 0 0
likely pathogenic 163 0 15 1 0 0 0
uncertain significance 52 12 1 14 8 0 0
likely benign 0 0 4 0 11 0 0
benign 1 0 5 62 1 1 2

Submitter to submitter summary #

Total submitters: 86
Download table as spreadsheet
Submitter Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
OMIM 0 49 0 137 0 0 40 177
Illumina Clinical Services Laboratory,Illumina 0 32 0 56 6 0 5 67
GeneDx 0 87 0 46 8 0 11 65
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 69 0 39 6 1 8 54
Invitae 0 77 0 30 13 0 7 50
Genetic Services Laboratory, University of Chicago 0 18 0 23 1 0 2 26
Ambry Genetics 0 27 0 14 3 0 6 23
Integrated Genetics/Laboratory Corporation of America 0 11 1 16 2 0 2 21
GeneReviews 0 11 4 12 1 0 3 20
Fulgent Genetics 0 19 0 16 1 0 2 19
Counsyl 0 20 0 13 1 0 3 17
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 12 0 15 1 0 0 16
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 29 0 9 3 0 1 13
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 23 0 6 5 0 2 13
Athena Diagnostics Inc 0 15 0 6 1 0 4 11
PreventionGenetics 0 50 0 9 2 0 0 11
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 9 0 2 3 0 1 6
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 4 0 4 0 0 0 4
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 0 2 0 0 2 4
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 11 0 3 1 0 0 4
Center for Human Genetics, Inc 0 2 0 1 2 0 0 3
Biesecker Lab/Human Development Section,National Institutes of Health 0 1 1 2 0 0 0 3
Mendelics 0 3 0 0 2 0 1 3
Institute of Human Genetics,Klinikum rechts der Isar 0 2 0 3 0 0 0 3
HudsonAlpha Institute for Biotechnology 0 0 0 2 0 0 1 3
UW Hindbrain Malformation Research Program,University of Washington 0 0 0 1 0 0 2 3
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 1 0 2 0 0 1 3
Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes 0 0 0 2 0 0 1 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 2 0 0 1 3
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 1 0 0 2 3
Gharavi Laboratory,Columbia University 0 0 0 0 0 0 3 3
Baylor Miraca Genetics Laboratories, 0 4 0 1 0 0 1 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 7 0 1 0 0 1 2
Institute of Human Genetics,Cologne University 0 0 0 2 0 0 0 2
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 2 0 2 0 0 0 2
University of Washington Center for Mendelian Genomics,University of Washington 0 1 0 1 0 0 1 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 2 0 0 0 2
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 1 0 2 0 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 1 0 2 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 0 1 0 0 0 1
Clinical Biochemistry Laboratory,Health Services Laboratory 0 0 0 1 0 0 0 1
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 0 0 0 1 0 0 0 1
Systems Biology Platform Zhejiang California International NanoSystems Institute 0 0 0 0 0 1 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 1 0 0 0 1
Blueprint Genetics, 0 1 0 1 0 0 0 1
LDLR-LOVD, British Heart Foundation 0 0 0 0 0 0 1 1
Wellcome Centre for Mitochondrial Research,Newcastle University 0 0 0 0 0 0 1 1
Center for Genetic Medicine Research,Children's National Medical Center 0 2 0 0 0 0 1 1
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 0 0 0 0 0 1 1
Molecular Neurogenomics lab,VIB Department of Molecular Genetics; University of Antwerp 0 0 0 1 0 0 0 1
Center for Medical Genetics Ghent,University of Ghent 0 2 0 0 0 0 1 1
CHU Sainte-Justine Research Center,University of Montreal 0 5 0 0 0 0 1 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 2 0 1 0 0 0 1
Care4Rare,CHEO 0 4 0 0 0 0 1 1
Neurogenetics of motion laboratory,Montreal Neurological Institute 0 0 0 1 0 0 0 1
Albrecht-Kossel-Institute,Medical University Rostock 0 0 0 0 1 1 0 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 2 0 1 0 0 0 1
Laboratory of Genetics and Molecular Cardiology,University of São Paulo 0 0 0 0 0 0 1 1
Centre for Genomic and Experimental Medicine,University of Edinburgh 0 0 0 1 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 2 0 1 0 0 0 1
Institute of Molecular Biology and Genetics,Federal Almazov North-West Medical Research Centre 0 0 0 1 0 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 1 0 1 0 0 0 1
Color 0 3 0 1 0 0 0 1
Database of Curated Mutations (DoCM) 0 0 0 1 0 0 0 1
Medical Molecular Genetics,National Research Centre 0 0 0 1 0 0 0 1
Human Genetics - Radboudumc,Radboudumc 0 0 0 0 0 0 1 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 0 1 0 0 0 1
Undiagnosed Diseases Network,NIH 0 0 0 1 0 0 0 1
ARUP Institute,ARUP Laboratories 0 1 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 0 0 1 0 0 0 1
Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde 0 0 0 1 0 0 0 1
Sandor Lifesciences Pvt Ltd 0 0 0 0 0 0 1 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 3 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 1 0 1 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 0 1 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 0 0 0 0 1 1
Tolun Lab, Human Genetics Laboratory,Bogazici University 0 0 0 0 1 0 0 1
Department of Traditional Chinese Medicine,Fujian Provincial Hospital 0 0 0 1 0 0 0 1
True Health Diagnostics 0 0 0 1 0 0 0 1
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 0 0 0 0 0 0 1 1
Wong Mito Lab, Molecular and Human Genetics,Baylor College of Medicine 0 2 0 0 0 0 1 1
Mark LeDoux Lab, University of Tennessee Health Science Center 0 0 0 1 0 0 0 1
Dan Cohn Lab,University Of California Los Angeles 0 0 0 1 0 0 0 1
Laboratory of Medical Genetics,INSERM 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 331
Download table as spreadsheet
HGVS dbSNP
NM_000018.3(ACADVL):c.1600G>A (p.Glu534Lys) rs2230180
NM_000019.3(ACAT1):c.472A>G (p.Asn158Asp) rs148639841
NM_000030.2(AGXT):c.508G>A (p.Gly170Arg) rs121908529
NM_000033.3(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_000038.6(APC):c.5465T>A (p.Val1822Asp) rs459552
NM_000046.4(ARSB):c.1151G>A (p.Ser384Asn) rs25414
NM_000046.4(ARSB):c.245T>G (p.Leu82Arg) rs749465732
NM_000046.4(ARSB):c.944G>A (p.Arg315Gln) rs727503809
NM_000049.2(ASPA):c.79G>A (p.Gly27Arg) rs766328537
NM_000050.4(ASS1):c.539G>A (p.Ser180Asn) rs121908638
NM_000051.3(ATM):c.5071A>C (p.Ser1691Arg) rs1800059
NM_000053.3(ATP7B):c.1934T>G (p.Met645Arg) rs121907998
NM_000069.2(CACNA1S):c.3716G>A (p.Arg1239His) rs28930068
NM_000070.2(CAPN3):c.1468C>T (p.Arg490Trp) rs141656719
NM_000070.2(CAPN3):c.479C>G (p.Ala160Gly) rs17592
NM_000071.2(CBS):c.1330G>A (p.Asp444Asn) rs28934891
NM_000071.2(CBS):c.304A>C (p.Lys102Gln) rs34040148
NM_000071.2(CBS):c.52C>T (p.Arg18Cys) rs201827340
NM_000091.4(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532
NM_000093.4(COL5A1):c.574G>A (p.Asp192Asn) rs138579182
NM_000094.3(COL7A1):c.3830C>T (p.Pro1277Leu) rs35761247
NM_000118.3(ENG):c.1844C>T (p.Ser615Leu) rs148002300
NM_000125.3(ESR1):c.1181G>A (p.Arg394His) rs1131692059
NM_000138.4(FBN1):c.4441A>G (p.Ser1481Gly) rs61730054
NM_000138.4(FBN1):c.4588C>T (p.Arg1530Cys) rs111401431
NM_000152.4(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000153.3(GALC):c.1403C>G (p.Thr468Ser) rs34134328
NM_000155.3(GALT):c.404C>T (p.Ser135Leu) rs111033690
NM_000163.4(GHR):c.1319G>T (p.Cys440Phe) rs6182
NM_000168.5(GLI3):c.2424A>G (p.Ile808Met) rs62622373
NM_000169.2(GLA):c.865A>G (p.Ile289Val) rs140329381
NM_000199.3(SGSH):c.877C>T (p.Pro293Ser) rs143947056
NM_000199.4(SGSH):c.1182G>T (p.Met394Ile) rs34297805
NM_000214.3(JAG1):c.2429C>T (p.Pro810Leu) rs769531968
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln) rs145895196
NM_000214.3(JAG1):c.701G>A (p.Cys234Tyr) rs121918353
NM_000218.2(KCNQ1):c.1016T>C (p.Phe339Ser) rs199472759
NM_000231.2(SGCG):c.347G>A (p.Arg116His) rs17314986
NM_000232.4(SGCB):c.341C>T (p.Ser114Phe) rs150518260
NM_000232.4(SGCB):c.452C>G (p.Thr151Arg) rs28936383
NM_000238.3(KCNH2):c.2510A>G (p.Asp837Gly) rs199473004
NM_000243.2(MEFV):c.2080A>G (p.Met694Val) rs61752717
NM_000260.3(MYO7A):c.4697C>T (p.Thr1566Met) rs41298747
NM_000260.3(MYO7A):c.47T>C (p.Leu16Ser) rs1052030
NM_000260.3(MYO7A):c.5156A>G (p.Tyr1719Cys) rs77625410
NM_000267.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889
NM_000267.3(NF1):c.2294G>A (p.Arg765His) rs199474777
NM_000271.4(NPC1):c.709C>T (p.Pro237Ser) rs80358251
NM_000303.2(PMM2):c.385G>A (p.Val129Met) rs104894525
NM_000303.2(PMM2):c.484C>T (p.Arg162Trp) rs104894526
NM_000303.2(PMM2):c.590A>C (p.Glu197Ala) rs34258285
NM_000330.3(RS1):c.590G>A (p.Arg197His) rs281865355
NM_000348.3(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964
NM_000355.3(TCN2):c.1196G>A (p.Arg399Gln) rs4820889
NM_000441.1(SLC26A4):c.554G>C (p.Arg185Thr) rs542620119
NM_000444.5(PHEX):c.1735G>A (p.Gly579Arg) rs875989883
NM_000447.2(PSEN2):c.185G>A (p.Arg62His) rs58973334
NM_000458.3(HNF1B):c.226G>T (p.Gly76Cys) rs144425830
NM_000466.2(PEX1):c.2088A>G (p.Ile696Met) rs35996821
NM_000478.4(ALPL):c.979T>C (p.Phe327Leu) rs121918010
NM_000487.5(ARSA):c.1055A>G (p.Asn352Ser) rs2071421
NM_000492.3(CFTR):c.1684G>A (p.Val562Ile) rs1800097
NM_000492.3(CFTR):c.443T>C (p.Ile148Thr) rs35516286
NM_000527.4(LDLR):c.479G>A (p.Cys160Tyr) rs879254541
NM_000548.4(TSC2):c.3986G>A (p.Arg1329His) rs45517323
NM_000709.3(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870
NM_000709.3(BCKDHA):c.452C>T (p.Thr151Met) rs34442879
NM_000709.3(BCKDHA):c.868G>A (p.Gly290Arg) rs137852871
NM_001001557.4(GDF6):c.1287C>A (p.Ser429Arg) rs1554571225
NM_001005242.2(PKP2):c.184C>A (p.Gln62Lys) rs199601548
NM_001006657.1(WDR35):c.932G>T (p.Trp311Leu) rs200649783
NM_001010986.2(ATP11C):c.1253C>A (p.Thr418Asn) rs1556323334
NM_001012331.1(NTRK1):c.16C>T (p.Arg6Trp) rs201472270
NM_001012415.2(SOHLH1):c.27C>G (p.Tyr9Ter) rs864309646
NM_001024630.3(RUNX2):c.1531G>A (p.Gly511Ser) rs11498198
NM_001024943.1(ASL):c.1153C>T (p.Arg385Cys) rs28940286
NM_001031726.3(C19orf12):c.425A>C (p.Lys142Thr) rs79915936
NM_001033053.2(NLRP1):c.2176C>T (p.Arg726Trp) rs776245016
NM_001035.2(RYR2):c.14876G>A (p.Arg4959Gln) rs794728811
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys) rs1131692231
NM_001037333.3(CYFIP2):c.260G>C (p.Arg87Pro) rs1554108163
NM_001037333.3(CYFIP2):c.260G>T (p.Arg87Leu) rs1554108163
NM_001127221.1(CACNA1A):c.4636C>T (p.Arg1546Ter) rs121909324
NM_001127660.1(MFN2):c.1085C>T (p.Thr362Met) rs387906991
NM_001129.5(AEBP1):c.1743C>A (p.Cys581Ter) rs777647845
NM_001130144.2(LTBP3):c.2087C>G (p.Ser696Cys) rs1554974135
NM_001134232.2(TMEM106B):c.754G>A (p.Asp252Asn) rs1554310600
NM_001134831.1(AHI1):c.2168G>A (p.Arg723Gln) rs121434351
NM_001135243.1(TCOF1):c.4292G>C (p.Gly1431Ala) rs45491898
NM_001143779.1(IFT81):c.1303_1305delCTT rs1555266475
NM_001143779.1(IFT81):c.1534C>T (p.Arg512Ter) rs200335504
NM_001144869.2(LIPT2):c.314T>G (p.Leu105Arg) rs1190703859
NM_001144869.2(LIPT2):c.377T>G (p.Leu126Arg) rs753904927
NM_001144869.2(LIPT2):c.89T>C (p.Leu30Pro) rs539962457
NM_001145026.1(PTPRQ):c.6881G>A (p.Trp2294Ter) rs1555214288
NM_001145112.1(PATL2):c.1108G>A (p.Gly370Arg) rs1397500378
NM_001145112.1(PATL2):c.478C>T (p.Arg160Ter) rs548527219
NM_001145112.1(PATL2):c.784C>T (p.Arg262Ter) rs1351320025
NM_001145112.1(PATL2):c.839G>A (p.Arg280Gln) rs569729547
NM_001145112.1(PATL2):c.953T>C (p.Ile318Thr) rs1011539285
NM_001160036.1(RHOBTB2):c.1421C>G (p.Ala474Gly) rs1554504656
NM_001160036.1(RHOBTB2):c.1528A>G (p.Asn510Asp) rs1554504678
NM_001160036.1(RHOBTB2):c.1531C>T (p.Arg511Trp) rs1554504681
NM_001195263.2(PDZD7):c.197G>T (p.Arg66Leu) rs1426679303
NM_001195263.2(PDZD7):c.307G>C (p.Gly103Arg) rs148695069
NM_001195263.2(PDZD7):c.682G>A (p.Gly228Arg) rs753034799
NM_001195263.2(PDZD7):c.854T>G (p.Met285Arg) rs1554835827
NM_001200.4(BMP2):c.460C>T (p.Arg154Ter) rs1057523275
NM_001200.4(BMP2):c.79G>T (p.Glu27Ter) rs1555785715
NM_001200.4(BMP2):c.987C>A (p.Cys329Ter) rs1555786156
NM_001284333.1(TLK2):c.777C>A (p.Tyr259Ter)
NM_001351044.1(PDZD7):c.1528C>A (p.Pro510Thr) rs953422571
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) rs587780564
NM_001447.2(FAT2):c.10758G>C (p.Lys3586Asn) rs770597316
NM_001447.2(FAT2):c.10946G>A (p.Arg3649Gln) rs201335279
NM_001456.3(FLNA):c.1582G>A (p.Val528Met) rs143873938
NM_001914.3(CYB5A):c.131A>T (p.His44Leu) rs1555688659
NM_001914.3(CYB5A):c.81G>A (p.Trp27Ter) rs1555691399
NM_001927.3(DES):c.1064G>C (p.Arg355Pro) rs61368398
NM_002552.4(ORC4):c.521A>G (p.Tyr174Cys) rs387906847
NM_002633.2(PGM1):c.262A>G (p.Ile88Val) rs855314
NM_002642.3(PIGC):c.566T>G (p.Leu189Trp) rs1553259614
NM_002642.3(PIGC):c.61C>T (p.Arg21Ter) rs115209243
NM_002642.3(PIGC):c.635T>C (p.Leu212Pro) rs1553259602
NM_002693.2(POLG):c.1636C>T (p.Arg546Cys) rs2307447
NM_002693.2(POLG):c.2243G>C (p.Trp748Ser) rs113994097
NM_002693.2(POLG):c.2542G>A (p.Gly848Ser) rs113994098
NM_002860.3(ALDH18A1):c.1115C>A (p.Ser372Tyr) rs3765571
NM_002890.2(RASA1):c.1583A>G (p.Tyr528Cys) rs145752649
NM_003036.3(SKI):c.100G>A (p.Gly34Ser) rs387907306
NM_003060.3(SLC22A5):c.430C>T (p.Leu144Phe) rs10040427
NM_003073.4(SMARCB1):c.110G>A (p.Arg37His) rs398122368
NM_003119.2(SPG7):c.1529C>T rs61755320
NM_003380.4(VIM):c.623A>G (p.Gln208Arg) rs1085307141
NM_003494.3(DYSF):c.3113G>A rs150877497
NM_003504.4(CDC45):c.1660C>T (p.Arg554Trp) rs778665661
NM_003504.4(CDC45):c.203A>G (p.Gln68Arg) rs879255633
NM_003504.4(CDC45):c.226A>C (p.Asn76His) rs879255632
NM_003504.4(CDC45):c.469C>T (p.Arg157Cys) rs540217942
NM_003504.4(CDC45):c.677A>G (p.Asp226Gly) rs754080445
NM_003504.4(CDC45):c.893C>T (p.Ala298Val) rs146559223
NM_003630.2(PEX3):c.991G>A (p.Gly331Arg) rs1057523689
NM_003801.4(GPAA1):c.1165G>C (p.Ala389Pro) rs782768127
NM_003801.4(GPAA1):c.160_161delGCinsAA (p.Ala54Asn) rs1554763777
NM_003801.4(GPAA1):c.527G>C (p.Trp176Ser) rs782220208
NM_003801.4(GPAA1):c.869T>C (p.Leu290Pro) rs1554764058
NM_003801.4(GPAA1):c.872T>C (p.Leu291Pro) rs1010907740
NM_003944.3(SELENBP1):c.1039G>T (p.Gly347Ter) rs1553204817
NM_003944.3(SELENBP1):c.673G>T (p.Gly225Trp) rs758495626
NM_003944.3(SELENBP1):c.985C>T (p.His329Tyr) rs1553204840
NM_004006.2(DMD):c.5016T>A (p.Asn1672Lys) rs16990264
NM_004171.3(SLC1A2):c.866C>G (p.Pro289Arg) rs781379291
NM_004183.3(BEST1):c.584C>T (p.Ala195Val) rs200277476
NM_004218.4(RAB11B):c.202G>A (p.Ala68Thr) rs1555690804
NM_004218.4(RAB11B):c.64G>A (p.Val22Met) rs1555690779
NM_004311.3(ARL3):c.269A>G (p.Tyr90Cys)
NM_004315.5(ASAH1):c.155A>G (p.Tyr52Cys) rs137853595
NM_004333.5(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_004646.3(NPHS1):c.1223G>A (p.Arg408Gln) rs33950747
NM_004795.4(KL):c.578A>G (p.His193Arg) rs121908423
NM_004895.4(NLRP3):c.61G>C (p.Asp21His) rs200154873
NM_004992.3(MECP2):c.1126C>T (p.Pro376Ser) rs61752387
NM_005518.3(HMGCS2):c.1499G>A (p.Arg500His) rs137852639
NM_005518.3(HMGCS2):c.634G>A (p.Gly212Arg) rs137852638
NM_005609.3(PYGM):c.2392T>C (p.Trp798Arg) rs119103258
NM_005956.4(MTHFD1):c.146C>T (p.Ser49Phe) rs370444838
NM_005956.4(MTHFD1):c.152T>C (p.Leu51Pro) rs1555336810
NM_005956.4(MTHFD1):c.517C>T (p.Arg173Cys) rs141210410
NM_005956.4(MTHFD1):c.806C>T (p.Thr269Ile) rs1555337681
NM_006019.3(TCIRG1):c.166C>T (p.Arg56Trp) rs36027301
NM_006088.6(TUBB4B):c.1171C>T (p.Arg391Cys) rs1554786802
NM_006088.6(TUBB4B):c.1172G>A (p.Arg391His) rs1554786803
NM_006214.3(PHYH):c.85C>T (p.Pro29Ser) rs28938169
NM_006440.5(TXNRD2):c.1341T>G (p.Tyr447Ter) rs202059967
NM_006493.3(CLN5):c.579C>A (p.Asn193Lys) rs138611001
NM_006493.3(CLN5):c.76T>C (p.Trp26Arg) rs199727787
NM_006502.2(POLH):c.1783A>G (p.Met595Val) rs9333555
NM_006517.4(SLC16A2):c.1111C>T (p.Arg371Cys) rs587784384
NM_006618.4(KDM5B):c.4109T>G (p.Leu1370Ter)
NM_006651.4(CPLX1):c.315C>A (p.Cys105Ter) rs1553851860
NM_006651.4(CPLX1):c.322G>T (p.Glu108Ter) rs1060499735
NM_006651.4(CPLX1):c.382C>A (p.Leu128Met) rs371709824
NM_006660.5(CLPX):c.893G>A (p.Gly298Asp) rs1555412542
NM_006852.3(TLK2):c.2092C>T (p.Arg698Ter) rs1555669421
NM_006852.3(TLK2):c.890G>A (p.Gly297Asp) rs1555639254
NM_006920.5(SCN1A):c.1811G>A (p.Arg604His) rs121918769
NM_007375.3(TARDBP):c.859G>A (p.Gly287Ser) rs80356719
NM_012268.4(PLD3):c.923T>C (p.Leu308Pro) rs537053537
NM_012434.4(SLC17A5):c.115C>T (p.Arg39Cys) rs80338794
NM_012434.4(SLC17A5):c.886G>A (p.Val296Ile) rs16883930
NM_012463.3(ATP6V0A2):c.2438C>T (p.Ala813Val) rs17883456
NM_012479.3(YWHAG):c.387C>G (p.Asp129Glu) rs1554616630
NM_012479.3(YWHAG):c.394C>T (p.Arg132Cys) rs1554616628
NM_012479.3(YWHAG):c.44A>C (p.Glu15Ala) rs1554618767
NM_013382.5(POMT2):c.161C>A (p.Ala54Glu) rs8177536
NM_013382.5(POMT2):c.1997A>G (p.Tyr666Cys) rs200198778
NM_014003.4(DHX38):c.971G>A (p.Arg324Gln)
NM_014003.4(DHX38):c.995G>A (p.Gly332Asp) rs587777554
NM_014049.4(ACAD9):c.976G>A rs115532916
NM_014055.3(IFT81):c.785T>G (p.Leu262Ter) rs576969206
NM_014055.3(IFT81):c.87G>C (p.Leu29Phe) rs751222088
NM_014191.3(SCN8A):c.2549G>A (p.Arg850Gln) rs587780586
NM_014233.3(UBTF):c.628G>A (p.Glu210Lys) rs1555582065
NM_014324.5(AMACR):c.717G>T (p.Gln239His) rs34677
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys) rs121918329
NM_014467.2(SRPX2):c.980A>G (p.Asn327Ser) rs121918363
NM_014727.2(KMT2B):c.1633C>T (p.Arg545Ter) rs1057519279
NM_014727.2(KMT2B):c.1690C>T (p.Arg564Ter) rs1057519283
NM_014727.2(KMT2B):c.2428C>T (p.Gln810Ter) rs1057519281
NM_014727.2(KMT2B):c.4545C>A (p.Tyr1515Ter) rs1057519284
NM_014727.2(KMT2B):c.7549C>T (p.Arg2517Trp) rs1057519285
NM_014780.4(CUL7):c.3041T>G (p.Leu1014Arg) rs61752334
NM_014874.3(MFN2):c.2119C>T (p.Arg707Trp) rs119103267
NM_014946.3(SPAST):c.1676G>A (p.Gly559Asp) rs864622179
NM_014946.3(SPAST):c.484G>A (p.Val162Ile) rs141944844
NM_015213.3(DENND5A):c.1622A>G (p.Asp541Gly) rs1057519309
NM_015231.2(NUP160):c.2407G>A (p.Glu803Lys)
NM_015231.2(NUP160):c.2728C>T (p.Arg910Ter)
NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr) rs267607038
NM_015665.5(AAAS):c.787T>C (p.Ser263Pro) rs121918550
NM_015693.4(INTU):c.1063G>T (p.Glu355Ter) rs1037828930
NM_015693.4(INTU):c.1499A>C (p.Glu500Ala) rs1360128571
NM_015693.4(INTU):c.826C>T (p.Gln276Ter) rs373900644
NM_015915.4(ATL1):c.715C>T (p.Arg239Cys) rs119476046
NM_015971.3(MRPS7):c.550A>G (p.Met184Val) rs115047866
NM_016038.3(SBDS):c.24C>A (p.Asn8Lys) rs28942099
NM_016038.3(SBDS):c.505C>T (p.Arg169Cys) rs113993996
NM_016038.3(SBDS):c.635T>C (p.Ile212Thr) rs79344818
NM_016306.5(DNAJB11):c.161C>G (p.Pro54Arg) rs1553849919
NM_016306.5(DNAJB11):c.230T>C (p.Leu77Pro) rs1553850185
NM_017635.4(KMT5B):c.559C>T (p.Arg187Ter)
NM_017635.4(KMT5B):c.791G>C (p.Trp264Ser) rs1555028104
NM_017646.5(TRIT1):c.1204C>T (p.Arg402Ter) rs367752391
NM_017646.5(TRIT1):c.1256A>C (p.His419Pro) rs566435653
NM_017646.5(TRIT1):c.22C>T (p.Arg8Ter) rs184469579
NM_017646.5(TRIT1):c.848T>G (p.Ile283Ser) rs199622789
NM_017646.5(TRIT1):c.856A>G (p.Lys286Glu) rs1060505019
NM_017646.5(TRIT1):c.968G>A (p.Arg323Gln) rs1047420796
NM_017649.4(CNNM2):c.806C>G (p.Ser269Trp) rs794726858
NM_017651.4(AHI1):c.3368C>T rs117447608
NM_017780.3(CHD7):c.2230G>A (p.Gly744Ser) rs141947938
NM_017780.3(CHD7):c.6478G>A (p.Ala2160Thr) rs61753399
NM_017780.3(CHD7):c.7579A>C (p.Met2527Leu) rs192129249
NM_017825.3(ADPRHL2):c.1004T>G (p.Val335Gly)
NM_017882.2(CLN6):c.34G>A (p.Ala12Thr) rs112239768
NM_018136.4(ASPM):c.7860G>C (p.Gln2620His) rs12138336
NM_018136.5(ASPM):c.9395T>G (p.Leu3132Arg) rs36004306
NM_018230.2(NUP133):c.2922T>G (p.Ser974Arg)
NM_018230.2(NUP133):c.3164T>C (p.Leu1055Ser)
NM_018230.2(NUP133):c.691C>G (p.Arg231Gly)
NM_018328.4(MBD5):c.1382G>A (p.Arg461His) rs139964770
NM_018706.5(DHTKD1):c.2185G>A rs117225135
NM_018848.3(MKKS):c.1015A>G (p.Ile339Val) rs137853909
NM_018941.3(CLN8):c.374A>G (p.Asn125Ser) rs142269885
NM_020166.4(MCCC1):c.974T>G (p.Met325Arg) rs119103212
NM_020401.3(NUP107):c.2666A>G (p.Tyr889Cys)
NM_020401.4(NUP107):c.303G>A (p.Met101Ile) rs730882216
NM_020476.2(ANK1):c.3973A>G (p.Met1325Val) rs10093583
NM_020928.1(ZSWIM6):c.3487C>T (p.Arg1163Trp) rs587777695
NM_020964.2(EPG5):c.4007G>A (p.Gly1336Glu) rs1085308061
NM_020964.2(EPG5):c.7447C>T (p.Arg2483Ter) rs863225064
NM_020964.3(EPG5):c.6084G>A (p.Trp2028Ter)
NM_020964.3(EPG5):c.7333C>T (p.Arg2445Ter)
NM_021067.5(GINS1):c.247C>T (p.Arg83Cys) rs137901350
NM_021067.5(GINS1):c.455G>A (p.Cys152Tyr) rs376610445
NM_021252.4(RAB18):c.592G>A (p.Ala198Thr) rs11015859
NM_022132.4(MCCC2):c.568C>T (p.His190Tyr) rs773774134
NM_022132.4(MCCC2):c.599T>A (p.Ile200Asn) rs140806722
NM_022336.3(EDAR):c.1259G>A (p.Arg420Gln) rs121908453
NM_022367.3(SEMA4A):c.1529G>A (p.Arg510Gln) rs2075164
NM_022437.2(ABCG8):c.1720G>A (p.Gly574Arg) rs137852988
NM_022970.3(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_023073.3(CPLANE1):c.3599C>T (p.Ala1200Val) rs141153181
NM_023110.2(FGFR1):c.2314C>T (p.Pro772Ser) rs56234888
NM_023936.1(MRPS34):c.37G>A (p.Glu13Lys) rs1131692037
NM_023936.1(MRPS34):c.94C>T (p.Gln32Ter) rs763672163
NM_024057.3(NUP37):c.916C>T (p.Arg306Ter)
NM_024079.4(ALG8):c.665A>G (p.Asn222Ser) rs665278
NM_024408.3(NOTCH2):c.6853C>T (p.Gln2285Ter) rs1553193507
NM_024570.3(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679
NM_024580.6(EFL1):c.3284G>A (p.Arg1095Gln) rs376095522
NM_024844.4(NUP85):c.1430C>T (p.Ala477Val)
NM_024844.4(NUP85):c.1741G>C (p.Ala581Pro)
NM_024844.4(NUP85):c.1933C>T (p.Arg645Trp)
NM_025114.3(CEP290):c.1991A>G (p.Asp664Gly) rs79705698
NM_030813.5(CLPB):c.1222A>G (p.Arg408Gly) rs144078282
NM_032193.3(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_032810.3(ATAD1):c.162G>C (p.Gln54His) rs1554884979
NM_032861.3(SERAC1):c.1577G>A (p.Gly526Glu) rs1554261079
NM_052873.2(IFT43):c.100G>A (p.Glu34Lys) rs140366557
NM_052873.2(IFT43):c.535T>C (p.Trp179Arg) rs1555369050
NM_053025.3(MYLK):c.1133G>A (p.Arg378His) rs56378658
NM_057176.3(BSND):c.127G>A (p.Val43Ile) rs34561376
NM_130849.3(SLC39A4):c.251C>T (p.Pro84Leu) rs117535951
NM_138638.4(CFL2):c.19G>A (p.Val7Met) rs397515451
NM_138694.3(PKHD1):c.10036T>C (p.Cys3346Arg) rs149798764
NM_138694.3(PKHD1):c.10585G>C (p.Glu3529Gln) rs145184792
NM_138694.3(PKHD1):c.2489A>G (p.Asn830Ser) rs62406032
NM_138694.3(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019
NM_138694.3(PKHD1):c.7921A>G (p.Thr2641Ala) rs7766366
NM_138694.3(PKHD1):c.8581A>G (p.Ser2861Gly) rs150925674
NM_138694.3(PKHD1):c.8606C>A (p.Thr2869Lys) rs142522748
NM_152618.2(BBS12):c.1574G>A (p.Arg525His) rs776730549
NM_152641.4(ARID2):c.1028T>A (p.Leu343Ter) rs796052242
NM_152641.4(ARID2):c.4318C>T (p.Gln1440Ter) rs772995852
NM_153026.2(PRICKLE1):c.370G>A (p.Ala124Thr) rs79087668
NM_153704.5(TMEM67):c.245C>G (p.Pro82Arg) rs772437766
NM_170606.2(KMT2C):c.1690A>T (p.Lys564Ter) rs1554580083
NM_170606.2(KMT2C):c.4441C>T (p.Arg1481Ter) rs587777073
NM_170606.2(KMT2C):c.7550C>G (p.Ser2517Ter) rs779659766
NM_170707.3(LMNA):c.1621C>T (p.Arg541Cys) rs56984562
NM_172107.3(KCNQ2):c.601C>T (p.Arg201Cys) rs796052623
NM_181426.2(CCDC39):c.1781C>T (p.Thr594Ile) rs140505857
NM_198056.2(SCN5A):c.5350G>A (p.Glu1784Lys) rs137854601
NM_198056.2(SCN5A):c.844C>T (p.Arg282Cys) rs199473082
NM_198525.2(KIF7):c.3345C>G (p.His1115Gln) rs142032413
NM_198576.4(AGRN):c.1123G>T (p.Ala375Ser) rs138031468
NM_201589.3(MAFA):c.191C>T (p.Ser64Phe) rs1554635488
NM_201647.3(STAMBP):c.112C>T (p.Arg38Cys) rs143739249
NM_203290.4(POLR1C):c.836G>A (p.Arg279Gln) rs191582628
NM_206933.2(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051
NM_206933.2(USH2A):c.10712C>T (p.Thr3571Met) rs202175091
NM_206933.2(USH2A):c.2137G>C (p.Gly713Arg) rs696723
NM_212482.2(FN1):c.2425_2427delACA (p.Thr809del) rs1553636502
NM_212482.3(FN1):c.260G>T (p.Cys87Phe) rs1553669703
NM_212482.3(FN1):c.367T>C (p.Cys123Arg) rs1553667072
NM_212482.3(FN1):c.718T>G (p.Tyr240Asp) rs1553659131
NM_213599.2(ANO5):c.1213C>T (p.Gln405Ter) rs368970223
NM_213599.2(ANO5):c.1639C>T (p.Arg547Ter) rs747719953
NM_213599.2(ANO5):c.172C>T (p.Arg58Trp) rs201725369
NM_213607.2(CCDC103):c.461A>C (p.His154Pro) rs145457535

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