ClinVar Miner

Variants from Clinical Genetics and Genomics, Karolinska University Hospital with conflicting interpretations

Location: Sweden  Primary collection method: clinical testing
Minimum review status of the submission from Clinical Genetics and Genomics, Karolinska University Hospital: Collection method of the submission from Clinical Genetics and Genomics, Karolinska University Hospital:
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
400 313 0 154 5 15 60 208

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 and Genomics, Karolinska University Hospital pathogenic likely pathogenic uncertain significance likely benign benign confers sensitivity drug response pathogenic, low penetrance risk factor other
pathogenic 0 65 29 3 2 1 5 0 2 5
likely pathogenic 89 0 28 3 0 0 1 1 1 0
uncertain significance 0 2 0 4 5 0 0 0 0 0

Submitter to submitter summary #

Total submitters: 61
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 0 303 0 68 4 0 13 85
CeGaT Center for Human Genetics Tuebingen 0 135 0 38 0 0 7 45
Invitae 0 54 0 24 2 1 9 36
Eurofins Ntd Llc (ga) 0 88 0 25 1 0 9 35
PreventionGenetics, part of Exact Sciences 0 74 0 18 2 0 7 27
Revvity Omics, Revvity 0 126 0 23 0 0 2 25
Quest Diagnostics Nichols Institute San Juan Capistrano 0 159 0 14 0 0 9 23
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 17 0 0 3 0 14 17
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 129 0 9 3 0 3 15
Mayo Clinic Laboratories, Mayo Clinic 0 89 0 11 0 0 4 15
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 97 0 13 0 0 2 15
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 64 0 9 0 0 4 13
Athena Diagnostics Inc 0 29 0 10 1 0 1 12
Department of Pathology and Laboratory Medicine, Sinai Health System 0 21 0 1 0 0 10 11
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 64 0 11 0 0 0 11
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 32 0 6 0 0 3 9
OMIM 0 24 0 0 0 8 0 8
Clinical Genetics, Academic Medical Center 0 8 0 7 0 0 1 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 50 0 5 0 0 3 8
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 72 0 5 0 0 2 7
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 25 0 5 0 0 2 7
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 21 0 4 0 0 2 6
Genetic Services Laboratory, University of Chicago 0 20 0 3 0 0 2 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 13 0 1 0 0 4 5
Fulgent Genetics, Fulgent Genetics 0 39 0 4 0 0 1 5
PharmGKB 0 0 0 0 0 5 0 5
Ambry Genetics 0 6 0 3 0 0 1 4
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 47 0 4 0 0 0 4
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 19 0 3 1 0 0 4
Kariminejad - Najmabadi Pathology & Genetics Center 0 6 0 4 0 0 0 4
AiLife Diagnostics, AiLife Diagnostics 0 14 0 4 0 0 0 4
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 33 0 2 0 0 1 3
Illumina Laboratory Services, Illumina 0 12 0 2 0 0 1 3
Database of Curated Mutations (DoCM) 0 0 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
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 28 0 2 0 0 1 3
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino 0 1 0 3 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 6 0 2 0 0 1 3
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 1 0 1 0 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 2 0 2 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 9 0 2 0 0 0 2
Baylor Genetics 0 3 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 4 0 1 0 0 0 1
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 0 0 0 0 1 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 2 0 0 0 0 1 1
Counsyl 0 1 0 1 0 0 0 1
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 19 0 0 0 0 1 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 1 0 0 0 1
Blueprint Genetics 0 17 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 4 0 0 0 0 1 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 1 0 1 0 0 0 1
Care4Rare-SOLVE, CHEO 0 0 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 0 1 0 0 0 1
Oxford Haemato-Oncology Service, Oxford University Hospitals NHS Foundation Trust 0 0 0 0 0 1 0 1
Endocrine oncology group, Uppsala University 0 0 0 1 0 0 0 1
Human Genomics Unit, Institute for molecular medicine Finland (FIMM) 0 0 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 2 0 0 0 0 1 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 2 0 1 0 0 0 1
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen 0 0 0 0 0 0 1 1
Genomics England Pilot Project, Genomics England 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 208
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser) rs11466023 0.01590
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln) rs11466024 0.01456
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271 0.00561
NM_000500.9(CYP21A2):c.719T>A (p.Met240Lys) rs6476 0.00523
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00501
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_000243.3(MEFV):c.329T>C (p.Leu110Pro) rs11466018 0.00217
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00181
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762 0.00178
NM_000044.6(AR):c.1174C>T (p.Pro392Ser) rs201934623 0.00163
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_018480.7(TMEM126B):c.635G>T (p.Gly212Val) rs141542003 0.00103
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu) rs139260335 0.00057
NM_001349253.2(SCN11A):c.3473T>C (p.Leu1158Pro) rs141686175 0.00047
NM_001015880.2(PAPSS2):c.809G>A (p.Gly270Asp) rs138943074 0.00038
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) rs75541969 0.00033
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala) rs143139258 0.00029
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 0.00026
NM_006118.4(HAX1):c.91del (p.Glu31fs) rs764082747 0.00026
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_152743.4(BRAT1):c.294dup (p.Leu99fs) rs776913277 0.00022
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936 0.00019
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe) rs150518260 0.00019
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_001143992.2(WRAP53):c.1192C>T (p.Arg398Trp) rs281865548 0.00016
NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu) rs747754623 0.00011
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298 0.00010
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) rs140342925 0.00009
NM_014363.6(SACS):c.7394C>T (p.Ser2465Leu) rs747676277 0.00008
NM_000243.3(MEFV):c.1958G>A (p.Arg653His) rs104895085 0.00007
NM_000500.9(CYP21A2):c.850A>G (p.Met284Val) rs770199817 0.00007
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507 0.00006
NM_014804.3(KIAA0753):c.810C>T (p.Tyr270=) rs752659088 0.00006
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp) rs118192173 0.00005
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp) rs104895079 0.00004
NM_000371.4(TTR):c.148G>A (p.Val50Met) rs28933979 0.00004
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu) rs397508442 0.00004
NM_058216.3(RAD51C):c.774del (p.Thr259fs) rs754367349 0.00004
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658 0.00003
NM_000348.4(SRD5A2):c.578A>G (p.Asn193Ser) rs763296857 0.00003
NM_000518.4(HBB):c.404T>C (p.Val135Ala) rs33966761 0.00003
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys) rs267608161 0.00003
NM_000540.3(RYR1):c.7093G>A (p.Gly2365Arg) rs761224660 0.00003
NM_001852.4(COL9A2):c.186G>A (p.Pro62=) rs1085307973 0.00003
NM_004168.4(SDHA):c.223C>T (p.Arg75Ter) rs781764920 0.00003
NM_005787.6(ALG3):c.349C>T (p.Arg117Ter) rs753238253 0.00003
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785 0.00002
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00002
NM_000540.3(RYR1):c.11314C>T (p.Arg3772Trp) rs763112609 0.00002
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_001015880.2(PAPSS2):c.712C>T (p.Arg238Ter) rs541008862 0.00002
NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp) rs34126013 0.00002
NM_014140.4(SMARCAL1):c.2459G>A (p.Arg820His) rs200666300 0.00002
NM_014804.3(KIAA0753):c.970C>T (p.Arg324Ter) rs746068882 0.00002
NM_018418.5(SPATA7):c.288T>A (p.Cys96Ter) rs767745816 0.00002
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln) rs80359076 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000142.5(FGFR3):c.1612A>G (p.Ile538Val) rs80053154 0.00001
NM_000153.4(GALC):c.1630G>A (p.Asp544Asn) rs387906952 0.00001
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser) rs547818652 0.00001
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp) rs63751275 0.00001
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr) rs397508224 0.00001
NM_000500.9(CYP21A2):c.710T>A (p.Ile237Asn) rs1554299737 0.00001
NM_000500.9(CYP21A2):c.713T>A (p.Val238Glu) rs12530380 0.00001
NM_000540.3(RYR1):c.14833C>T (p.Arg4945Ter) rs1432807966 0.00001
NM_000540.3(RYR1):c.3523G>A (p.Glu1175Lys) rs769744438 0.00001
NM_000540.3(RYR1):c.7373G>A (p.Arg2458His) rs121918594 0.00001
NM_000546.6(TP53):c.542G>A (p.Arg181His) rs397514495 0.00001
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) rs28934575 0.00001
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu) rs374950566 0.00001
NM_001130987.2(DYSF):c.2864+1G>A rs199954546 0.00001
NM_001267550.2(TTN):c.104399del (p.Arg34800fs) rs747662439 0.00001
NM_001370259.2(MEN1):c.466G>A (p.Gly156Ser) rs1085307471 0.00001
NM_005199.5(CHRNG):c.256C>T (p.Arg86Cys) rs777219451 0.00001
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413 0.00001
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter) rs119103255 0.00001
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys) rs121913499 0.00001
NM_006796.3(AFG3L2):c.2105G>A (p.Arg702Gln) rs151344523 0.00001
NM_007055.4(POLR3A):c.3655G>T (p.Gly1219Ter) rs755978559 0.00001
NM_007294.4(BRCA1):c.4675G>A (p.Glu1559Lys) rs80356988 0.00001
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter) rs80357433 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_020975.6(RET):c.433G>A (p.Val145Ile) rs1311922451 0.00001
NM_130810.4(DNAAF4):c.733C>T (p.Arg245Ter) rs748440695 0.00001
NM_173660.5(DOK7):c.514G>A (p.Gly172Arg) rs768892432 0.00001
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter) rs137854575
NM_000059.4(BRCA2):c.1773_1776del (p.Ile591fs) rs80359304
NM_000059.4(BRCA2):c.6466_6469del (p.Ser2156fs) rs80359596
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys) rs80359027
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs) rs80359775
NM_000061.3(BTK):c.1442G>C (p.Cys481Ser) rs1057519825
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000090.4(COL3A1):c.3325C>T (p.Arg1109Ter) rs112371422
NM_000095.3(COMP):c.1153G>A (p.Asp385Asn) rs1601054715
NM_000095.3(COMP):c.1201G>A (p.Asp401Asn) rs2055169002
NM_000127.3(EXT1):c.1018C>T (p.Arg340Cys) rs119103290
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys) rs193922185
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000138.5(FBN1):c.2860C>T (p.Arg954Cys) rs1555398835
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) rs794728208
NM_000138.5(FBN1):c.5959G>C (p.Gly1987Arg) rs727504642
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
NM_000142.5(FGFR3):c.1663G>C (p.Val555Leu) rs1474187970
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) rs121913483
NM_000153.4(GALC):c.293dup (p.Leu98fs) rs757799254
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del) rs104895093
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000249.4(MLH1):c.62C>T (p.Ala21Val) rs63750706
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000251.3(MSH2):c.1982_1985del (p.Lys661fs) rs587779120
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter) rs63749932
NM_000251.3(MSH2):c.2680dup (p.Met894fs) rs876658211
NM_000388.4(CASR):c.679C>T (p.Arg227Ter) rs1085307984
NM_000451.4(SHOX):c.-55C>T rs772910213
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys) rs77834169
NM_000492.4(CFTR):c.3700A>G (p.Ile1234Val) rs75389940
NM_000500.9(CYP21A2):c.874G>A (p.Gly292Ser) rs201552310
NM_000516.7(GNAS):c.494G>A (p.Arg165His) rs2090976265
NM_000516.7(GNAS):c.499_501del (p.Asn167del) rs2090976492
NM_000516.7(GNAS):c.691C>T (p.Arg231Cys) rs1601162438
NM_000518.4(HBB):c.25A>G (p.Lys9Glu) rs33926764
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.5(HBB):c.90C>T (p.Gly30=) rs35578002
NM_000540.3(RYR1):c.4435C>T (p.Gln1479Ter) rs1968813234
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_000546.6(TP53):c.751A>C (p.Ile251Leu) rs730882007
NM_000551.4(VHL):c.449del (p.Asn150fs) rs794727253
NM_000551.4(VHL):c.501_502insTTGTCCGT (p.Ser168fs) rs398123483
NM_000760.4(CSF3R):c.2245C>T (p.Gln749Ter) rs1650332196
NM_000827.4(GRIA1):c.1906G>A (p.Ala636Thr) rs587776937
NM_000834.5(GRIN2B):c.2539C>T (p.Arg847Ter) rs879253931
NM_001032221.6(STXBP1):c.875G>A (p.Arg292His) rs796053361
NM_001035.3(RYR2):c.1259G>A (p.Arg420Gln) rs794728721
NM_001101.5(ACTB):c.1043C>T (p.Ser348Leu) rs886041309
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001111125.3(IQSEC2):c.2984G>A (p.Arg995Gln) rs886041767
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu) rs606231451
NM_001130144.3(LTBP3):c.132del (p.Pro45fs) rs1286042594
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)
NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr) rs12131800
NM_001244008.2(KIF1A):c.646C>T (p.Arg216Cys) rs797045164
NM_001282531.3(ADNP):c.3069_3072del (p.Arg1023fs) rs1279657093
NM_001303052.2(MYT1L):c.1975C>T (p.Arg659Ter) rs745333246
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu) rs121907922
NM_001372044.2(SHANK3):c.5197C>T (p.Arg1733Ter) rs2083361357
NM_001374828.1(ARID1B):c.5636_5639del (p.Glu1879fs) rs1583513256
NM_001374828.1(ARID1B):c.5763_5766del (p.Phe1921fs) rs1554237269
NM_001374828.1(ARID1B):c.5773C>T (p.Arg1925Ter) rs797045282
NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg) rs387906738
NM_001377.3(DYNC2H1):c.12581C>T (p.Ser4194Phe) rs886042136
NM_001377.3(DYNC2H1):c.1540C>T (p.Arg514Ter) rs1565317399
NM_001384474.1(LOXHD1):c.1475G>A (p.Trp492Ter) rs2038190712
NM_001415.4(EIF2S3):c.1394_1397del (p.Ile465fs) rs886040857
NM_001451.3(FOXF1):c.322A>G (p.Lys108Glu) rs1969551030
NM_001605.3(AARS1):c.986G>A (p.Arg329His) rs267606621
NM_001844.5(COL2A1):c.2059G>A (p.Gly687Ser) rs1939189846
NM_001844.5(COL2A1):c.3590G>C (p.Gly1197Ala) rs1938686073
NM_002317.7(LOX):c.625del (p.Gln209fs) rs756849358
NM_002381.5(MATN3):c.359C>T (p.Thr120Met) rs397515546
NM_003482.4(KMT2D):c.15088C>T (p.Arg5030Cys) rs1555185875
NM_004329.3(BMPR1A):c.1330T>C (p.Cys444Arg) rs774061725
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004364.5(CEBPA):c.247del (p.Gln83fs) rs1967192886
NM_004369.4(COL6A3):c.761del (p.Gly254fs) rs780921503
NM_006086.4(TUBB3):c.785G>A (p.Arg262His) rs864321716
NM_006087.4(TUBB4A):c.745G>A (p.Asp249Asn) rs483352809
NM_006218.4(PIK3CA):c.1048G>A (p.Asp350Asn) rs1064793349
NM_006565.4(CTCF):c.1024C>T (p.Arg342Cys) rs1131691283
NM_006912.6(RIT1):c.270G>C (p.Met90Ile) rs483352822
NM_007194.4(CHEK2):c.629_632del (p.Ser210fs) rs756131136
NM_007254.4(PNKP):c.1385G>C (p.Arg462Pro) rs376854895
NM_007289.4(MME):c.467del (p.Pro156fs) rs749320057
NM_007294.4(BRCA1):c.122A>G (p.His41Arg) rs80357276
NM_007294.4(BRCA1):c.1881_1884del (p.Ser628fs) rs80357567
NM_007294.4(BRCA1):c.5243G>A (p.Gly1748Asp) rs397509243
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_013275.6(ANKRD11):c.3770_3771del (p.Lys1257fs) rs886039477
NM_017739.4(POMGNT1):c.1814G>A (p.Arg605His) rs267606962
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_018972.4(GDAP1):c.368A>G (p.His123Arg) rs397515442
NM_020975.6(RET):c.1858T>C (p.Cys620Arg) rs77316810
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_020987.5(ANK3):c.2902G>C (p.Asp968His) rs730882195
NM_024675.4(PALB2):c.1592del (p.Leu531fs) rs180177102
NM_024675.4(PALB2):c.2368C>T (p.Gln790Ter) rs886039480
NM_024740.2(ALG9):c.1173+2T>A rs786205134
NM_030632.3(ASXL3):c.3106C>T (p.Arg1036Ter)
NM_133433.4(NIPBL):c.6893G>A (p.Arg2298His) rs587784024
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) rs59332535
NM_177559.3(CSNK2A1):c.583C>T (p.Arg195Ter) rs1034583315
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg) rs869312840
NM_183075.3(CYP2U1):c.947A>T (p.Asp316Val) rs397514513

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. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.