ClinVar Miner

Variants from Genome Diagnostics Laboratory,University Medical Center Utrecht with conflicting interpretations

Location: Netherlands — Primary collection method: clinical testing
Minimum review status of the submission from Genome Diagnostics Laboratory,University Medical Center Utrecht: Collection method of the submission from Genome Diagnostics Laboratory,University Medical Center Utrecht:
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
54 481 6 394 154 1 20 474

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
Genome Diagnostics Laboratory,University Medical Center Utrecht pathogenic likely pathogenic uncertain significance likely benign benign other
pathogenic 6 33 10 0 1 0
likely pathogenic 7 0 1 0 0 0
uncertain significance 2 1 0 5 4 1
likely benign 2 0 95 0 189 0
benign 4 1 52 165 0 0

Submitter to submitter summary #

Total submitters: 64
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
Illumina Clinical Services Laboratory,Illumina 0 280 0 127 59 0 2 188
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 389 0 104 4 0 2 110
Invitae 0 187 0 98 9 1 1 109
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 358 0 69 0 0 0 69
Breast Cancer Information Core (BIC) (BRCA2) 0 46 0 3 53 0 4 60
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 84 0 47 0 0 0 47
Counsyl 0 89 0 37 7 0 0 44
Mendelics 0 49 0 31 6 0 0 37
Michigan Medical Genetics Laboratories,University of Michigan 0 59 0 24 3 0 0 27
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 126 0 26 1 0 0 27
Sharing Clinical Reports Project (SCRP) 0 70 0 20 6 0 0 26
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 58 0 15 3 0 0 18
Breast Cancer Information Core (BIC) (BRCA1) 0 30 0 0 17 0 1 18
Natera, Inc. 0 48 0 16 0 0 0 16
Fulgent Genetics,Fulgent Genetics 0 39 0 12 2 0 0 14
OMIM 0 27 0 2 9 0 2 13
GeneReviews 0 6 6 2 0 0 4 12
Pathway Genomics 0 10 0 12 0 0 0 12
Institute of Human Genetics, University of Leipzig Medical Center 0 19 0 5 4 0 1 10
Genetic Services Laboratory, University of Chicago 0 9 0 3 2 0 0 5
Department of Medical Genetics, University Hospital of North Norway 0 0 0 4 1 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 0 1 3 0 0 4
Myriad Women's Health, Inc. 0 12 0 4 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 4 0 2 0 0 1 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 7 0 2 1 0 0 3
SIB Swiss Institute of Bioinformatics 0 4 0 3 0 0 0 3
Broad Institute Rare Disease Group, Broad Institute 0 2 0 2 0 0 1 3
Baylor Genetics 0 19 0 2 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 1 1 0 0 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 1 1 0 0 2
LDLR-LOVD, British Heart Foundation 0 0 0 2 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 6 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 10 0 1 0 0 1 2
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 1 0 1 1 0 0 2
Robarts Research Institute,Western University 0 0 0 2 0 0 0 2
Phosphorus, Inc. 0 2 0 2 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 5 0 1 1 0 0 2
Athena Diagnostics Inc 0 17 0 1 0 0 0 1
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 0 0 1 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 7 0 0 0 0 1 1
GeneDx 0 2 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 2 0 0 0 0 1 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 3 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 14 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 0 0 1 0 0 0 1
Center for Medical Genetics Ghent,University of Ghent 0 2 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 1 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 0 0 1 0 0 0 1
Cardiovascular Biomarker Research Laboratory,Mayo Clinic 0 0 0 0 1 0 0 1
Neurogenetics Laboratory,GH Pitie Salpetriere APHP 0 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 1 0 0 1
Color Health, Inc 0 1 0 1 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 1 0 0 0 1
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 1 0 0 0 0 1 1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 36 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 4 0 1 0 0 0 1
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation 0 0 0 1 0 0 0 1
Laboratoire de Biologie et Génétique du Cancer,Centre François Baclesse 0 0 0 0 1 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 0 0 0 0 1 1
ClinGen PAH Variant Curation Expert Panel 0 10 0 1 0 0 0 1
Brunham Lab, Centre for Heart and Lung Innovation,University of British Columbia 0 0 0 1 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 1 1
Laboratory of Molecular Genetics,National Medical Research Center for Therapy and Preventive Medicine 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 474
Download table as spreadsheet
HGVS dbSNP
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val) rs139142865
NM_000022.4(ADA):c.162G>A (p.Lys54=) rs45557242
NM_000022.4(ADA):c.606+10G>A rs201045221
NM_000043.6(FAS):c.369G>A (p.Gln123=) rs28362318
NM_000043.6(FAS):c.46G>A (p.Ala16Thr) rs3218619
NM_000048.4(ASL):c.35G>A (p.Arg12Gln) rs145138923
NM_000051.3(ATM):c.2119T>C (p.Ser707Pro) rs4986761
NM_000051.3(ATM):c.2572T>C (p.Phe858Leu) rs1800056
NM_000051.3(ATM):c.3285-9del rs1799757
NM_000051.3(ATM):c.3403-15T>A rs79701258
NM_000051.3(ATM):c.4258C>T (p.Leu1420Phe) rs1800058
NM_000051.3(ATM):c.5497-8T>C rs3092829
NM_000051.3(ATM):c.6235G>A (p.Val2079Ile) rs1800060
NM_000051.3(ATM):c.6347+31del rs58978479
NM_000051.3(ATM):c.7390T>C (p.Cys2464Arg) rs55801750
NM_000051.3(ATM):c.8786+8A>C rs4986839
NM_000051.4(ATM):c.1066-6T>G rs201686625
NM_000051.4(ATM):c.146C>G rs1800054
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059
NM_000059.3(BRCA2):c.*105A>C rs15869
NM_000059.3(BRCA2):c.-11C>T rs76874770
NM_000059.3(BRCA2):c.-39-2A>G rs1555280053
NM_000059.3(BRCA2):c.1788T>C (p.Asp596=) rs11571642
NM_000059.3(BRCA2):c.2680G>A (p.Val894Ile) rs28897715
NM_000059.3(BRCA2):c.3262C>T (p.Pro1088Ser) rs80358572
NM_000059.3(BRCA2):c.3445A>G (p.Met1149Val) rs80358589
NM_000059.3(BRCA2):c.3682A>G (p.Asn1228Asp) rs28897722
NM_000059.3(BRCA2):c.4061C>T (p.Thr1354Met) rs80358656
NM_000059.3(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.3(BRCA2):c.425+67A>C rs11571610
NM_000059.3(BRCA2):c.426-89T>C rs3783265
NM_000059.3(BRCA2):c.4584C>T (p.Ser1528=) rs80359788
NM_000059.3(BRCA2):c.476-9dup rs276174849
NM_000059.3(BRCA2):c.5390C>G (p.Ala1797Gly) rs80358760
NM_000059.3(BRCA2):c.631+25C>T rs367871824
NM_000059.3(BRCA2):c.631+43G>T rs276174869
NM_000059.3(BRCA2):c.632-69T>C rs61948377
NM_000059.3(BRCA2):c.67+4T>C rs373546450
NM_000059.3(BRCA2):c.6841+80_6841+83del rs11571661
NM_000059.3(BRCA2):c.7008-62A>G rs76584943
NM_000059.3(BRCA2):c.7052C>G (p.Ala2351Gly) rs80358932
NM_000059.3(BRCA2):c.7232A>C (p.Lys2411Thr) rs80358950
NM_000059.3(BRCA2):c.7397C>T (p.Ala2466Val) rs169547
NM_000059.3(BRCA2):c.7976+45G>C rs11571718
NM_000059.3(BRCA2):c.7977-14G>A rs879255467
NM_000059.3(BRCA2):c.8103T>G (p.Ser2701=) rs80359801
NM_000059.3(BRCA2):c.8134G>A (p.Asp2712Asn) rs80359056
NM_000059.3(BRCA2):c.8487+47C>T rs11571744
NM_000059.3(BRCA2):c.8754+5G>A rs81002813
NM_000059.3(BRCA2):c.9257-83G>A rs9595456
NM_000059.3(BRCA2):c.9275A>G (p.Tyr3092Cys) rs80359195
NM_000059.3(BRCA2):c.927A>G (p.Ser309=) rs80359806
NM_000059.3(BRCA2):c.9648+84G>A rs81002832
NM_000059.3(BRCA2):c.9649-19G>A rs11571830
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=) rs28897762
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) rs144848
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly) rs56403624
NM_000059.4(BRCA2):c.1395A>C (p.Val465=) rs11571641
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710
NM_000059.4(BRCA2):c.1804G>A (p.Gly602Arg) rs80358466
NM_000059.4(BRCA2):c.1909+22del rs276174816
NM_000059.4(BRCA2):c.2538A>C (p.Ser846=) rs11571654
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=) rs11571655
NM_000059.4(BRCA2):c.3055C>G (p.Leu1019Val) rs55638633
NM_000059.4(BRCA2):c.316+108A>G rs115376548
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=) rs1799952
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg) rs28897728
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375
NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter) rs80358815
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954
NM_000059.4(BRCA2):c.6317T>C (p.Leu2106Pro) rs56172926
NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys) rs55794205
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736
NM_000059.4(BRCA2):c.681+56C>T rs2126042
NM_000059.4(BRCA2):c.6853A>G (p.Ile2285Val) rs56272235
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707
NM_000059.4(BRCA2):c.794-11T>C rs81002822
NM_000059.4(BRCA2):c.8067T>A (p.Cys2689Ter) rs80359046
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747
NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His) rs41293511
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys) rs28897705
NM_000059.4(BRCA2):c.8487+19A>G rs11571743
NM_000059.4(BRCA2):c.8525G>A (p.Arg2842His) rs80359105
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755
NM_000059.4(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035
NM_000059.4(BRCA2):c.9257-16T>C rs11571818
NM_000059.4(BRCA2):c.9292T>C (p.Tyr3098His) rs41293521
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759
NM_000059.4(BRCA2):c.9501+3A>T rs61757642
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg) rs28897706
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833
NM_000070.3(CAPN3):c.2380+12del rs28364538
NM_000071.2(CBS):c.1643G>A (p.Arg548Gln) rs150828989
NM_000100.3(CSTB):c.121G>A (p.Val41Met) rs143153487
NM_000110.4(DPYD):c.1601G>A (p.Ser534Asn) rs1801158
NM_000110.4(DPYD):c.1905+1G>A rs3918290
NM_000171.4(GLRA1):c.1108G>A (p.Gly370Ser) rs116474260
NM_000179.2(MSH6):c.2633T>C (p.Val878Ala) rs2020912
NM_000181.4(GUSB):c.454G>A (p.Asp152Asn) rs149606212
NM_000215.3(JAK3):c.2152G>C (p.Val718Leu) rs146837396
NM_000231.2(SGCG):c.581T>C (p.Leu194Ser) rs547818652
NM_000235.4(LIPA):c.894G>A (p.Gln298=) rs116928232
NM_000251.2(MSH2):c.965G>A (p.Gly322Asp) rs4987188
NM_000253.3(MTTP):c.502G>A (p.Val168Ile) rs61750974
NM_000256.3(MYBPC3):c.1144C>T (p.Arg382Trp) rs11570076
NM_000256.3(MYBPC3):c.1458-6G>A rs375347534
NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=) rs200224422
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys) rs730880555
NM_000256.3(MYBPC3):c.2149-5C>T rs36211722
NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp) rs775404728
NM_000256.3(MYBPC3):c.2601C>T (p.Ile867=) rs11570097
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs) rs397515990
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050
NM_000256.3(MYBPC3):c.492C>T (p.Gly164=) rs3218719
NM_000256.3(MYBPC3):c.530G>A (p.Arg177His) rs201012766
NM_000256.3(MYBPC3):c.558G>T (p.Pro186=) rs370962887
NM_000256.3(MYBPC3):c.706A>G (p.Ser236Gly) rs3729989
NM_000256.3(MYBPC3):c.906-7G>T rs397516079
NM_000256.3(MYBPC3):c.926+8C>T rs377595584
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776
NM_000258.3(MYL3):c.130-14G>T rs192329378
NM_000271.5(NPC1):c.1503C>T (p.Asp501=) rs116046557
NM_000271.5(NPC1):c.1947+8_1947+10dup rs3837910
NM_000271.5(NPC1):c.1947+8_1947+11dup rs3837910
NM_000271.5(NPC1):c.1947+8dup rs3837910
NM_000271.5(NPC1):c.2795+19T>C rs200103695
NM_000271.5(NPC1):c.3477+19T>C rs375942184
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857
NM_000277.3(PAH):c.561G>A (p.Trp187Ter) rs62507336
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747
NM_000277.3(PAH):c.941C>A (p.Pro314His) rs62642940
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val) rs35719359
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu) rs80338701
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln) rs141498002
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415
NM_000303.3(PMM2):c.563A>G (p.Asp188Gly) rs80338704
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala) rs34258285
NM_000355.4(TCN2):c.280G>A (p.Gly94Ser) rs11557600
NM_000391.4(TPP1):c.1117C>G (p.Gln373Glu) rs112812685
NM_000432.4(MYL2):c.64G>A (p.Glu22Lys) rs104894368
NM_000481.4(AMT):c.631G>A (p.Glu211Lys) rs116192290
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000527.5(LDLR):c.941-4G>A
NM_000535.7(PMS2):c.1266G>A (p.Glu422=) rs138049175
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala) rs2228007
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) rs74902811
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser) rs1805318
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile) rs1805324
NM_000535.7(PMS2):c.23+10G>C rs192027828
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln) rs10254120
NM_000535.7(PMS2):c.706-20dup rs60794673
NM_000642.3(AGL):c.1155G>T (p.Lys385Asn) rs28730701
NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met) rs34442879
NM_000742.4(CHRNA2):c.140C>T (p.Thr47Met) rs74772771
NM_000824.5(GLRB):c.527+7T>C rs138020195
NM_000834.4(GRIN2B):c.2252T>C (p.Ile751Thr) rs876661055
NM_000834.4(GRIN2B):c.3498C>T (p.Ser1166=) rs45600931
NM_001005242.3(PKP2):c.1171-10T>C rs200122872
NM_001005242.3(PKP2):c.1171-11T>C rs183414126
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met) rs146882581
NM_001005242.3(PKP2):c.1539C>T (p.Asn513=) rs535581825
NM_001005242.3(PKP2):c.195C>T (p.Ala65=) rs397517014
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser) rs139734328
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808
NM_001103.3(ACTN2):c.536+10C>T rs141219516
NM_001105206.3(LAMA4):c.3239G>A (p.Arg1080Gln) rs41289902
NM_001105206.3(LAMA4):c.4065C>T (p.Phe1355=) rs34753919
NM_001105206.3(LAMA4):c.4173T>C (p.Tyr1391=) rs35042032
NM_001105206.3(LAMA4):c.5016T>A (p.Ile1672=) rs148517180
NM_001106.4(ACVR2B):c.1075-5C>T rs115155428
NM_001106.4(ACVR2B):c.811-12G>A rs144849143
NM_001127255.1(NLRP7):c.531C>T (p.His177=) rs746150420
NM_001127698.2(SPINK5):c.2243A>G (p.Glu748Gly) rs181639116
NM_001127698.2(SPINK5):c.802C>T (p.Arg268Cys) rs142558269
NM_001134407.3(GRIN2A):c.2190C>T (p.Tyr730=) rs61753382
NM_001134407.3(GRIN2A):c.2883C>T (p.Asn961=) rs77705198
NM_001134407.3(GRIN2A):c.4307A>G (p.Asn1436Ser) rs77029288
NM_001148.6(ANK2):c.10371G>A (p.Thr3457=) rs142908806
NM_001148.6(ANK2):c.1401A>G (p.Ala467=) rs142159132
NM_001148.6(ANK2):c.2278-11G>A rs146312675
NM_001148.6(ANK2):c.2377-8C>T rs139893914
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly) rs72544141
NM_001148.6(ANK2):c.7132G>A (p.Glu2378Lys) rs141191319
NM_001148.6(ANK2):c.9526G>T (p.Asp3176Tyr) rs138928206
NM_001148.6(ANK2):c.9900C>A (p.Ser3300Arg) rs34270799
NM_001161352.2(KCNMA1):c.1320C>T (p.Ile440=) rs45617636
NM_001161352.2(KCNMA1):c.3195C>T (p.Thr1065=) rs45527834
NM_001166114.2(PNPLA6):c.2359G>A (p.Val787Met) rs145988230
NM_001174150.2(ARL13B):c.105C>T (p.Thr35=) rs146396078
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707
NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala) rs61757684
NM_001232.4(CASQ2):c.226G>A (p.Val76Met) rs10801999
NM_001232.4(CASQ2):c.421-14G>A rs139281637
NM_001232.4(CASQ2):c.421-15C>G rs199939582
NM_001232.4(CASQ2):c.731A>G (p.His244Arg) rs28730716
NM_001243571.2(MTMR2):c.354+11T>C rs182582445
NM_001271620.2(ZNF423):c.3157G>A (p.Ala1053Thr) rs147898137
NM_001301365.1(LYST):c.10800+4G>T rs41308172
NM_001301365.1(LYST):c.10941-7C>A rs72761794
NM_001301365.1(LYST):c.11268-5del rs36014994
NM_001301365.1(LYST):c.2363+10dup
NM_001301365.1(LYST):c.5518T>G (p.Ser1840Ala) rs115330112
NM_001301365.1(LYST):c.7506A>G (p.Gln2502=) rs140434436
NM_001330504.1(ALG1):c.440C>T (p.Ser147Leu) rs28939378
NM_001330504.1(ALG1):c.467G>A (p.Ser156Asn) rs17849848
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001364905.1(LRBA):c.3948A>G (p.Gln1316=) rs35154927
NM_001558.3(IL10RA):c.67+8T>C rs200992970
NM_001558.4(IL10RA):c.337G>A (p.Val113Ile) rs4252303
NM_001558.4(IL10RA):c.696C>T (p.Thr232=) rs4252311
NM_001605.2(AARS1):c.1685C>T (p.Thr562Ile) rs148355156
NM_001605.2(AARS1):c.2521-3C>T rs200586605
NM_001605.2(AARS1):c.2791G>A (p.Gly931Ser) rs149377346
NM_001605.2(AARS1):c.2900A>T (p.Lys967Met) rs35744709
NM_001876.4(CPT1A):c.823G>A (p.Ala275Thr) rs2229738
NM_001909.5(CTSD):c.1072-7G>A rs149019571
NM_001909.5(CTSD):c.1215C>A (p.Gly405=) rs138733377
NM_001909.5(CTSD):c.353-12C>T rs141523461
NM_001909.5(CTSD):c.827+13T>C rs369602025
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg) rs147278302
NM_001931.4(DLAT):c.381+22delT rs5794771
NM_001985.3(ETFB):c.58-212A>C rs143144671
NM_001999.4(FBN2):c.2555-7A>G rs28763949
NM_001999.4(FBN2):c.4312G>A (p.Glu1438Lys) rs56168072
NM_001999.4(FBN2):c.5674+7A>G rs367877964
NM_001999.4(FBN2):c.7380C>T (p.Cys2460=) rs147102633
NM_001999.4(FBN2):c.738G>A (p.Ala246=) rs150087436
NM_001999.4(FBN2):c.8364+7A>T rs185052980
NM_001999.4(FBN2):c.953-8T>G rs201818403
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser) rs28763954
NM_002180.2(IGHMBP2):c.256+9G>A rs118015540
NM_002474.3(MYH11):c.2520+17A>G rs185697714
NM_002474.3(MYH11):c.2893G>T (p.Ala965Ser) rs113696032
NM_002474.3(MYH11):c.291C>T (p.Asn97=) rs113363750
NM_002474.3(MYH11):c.3652-6C>T rs193922630
NM_002474.3(MYH11):c.3828G>A (p.Ala1276=) rs113154524
NM_002474.3(MYH11):c.4158C>T (p.Thr1386=) rs112377790
NM_002474.3(MYH11):c.4578+3A>G rs143288748
NM_002474.3(MYH11):c.5296-4C>T rs183176702
NM_002474.3(MYH11):c.5676G>C (p.Glu1892Asp) rs113964173
NM_002474.3(MYH11):c.5800A>T (p.Thr1934Ser) rs113667224
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys) rs150759461
NM_002474.3(MYH11):c.792T>C (p.Tyr264=) rs34341838
NM_002474.3(MYH11):c.914A>G (p.Asn305Ser) rs185661462
NM_002506.2(NGF):c.239G>A (p.Arg80Gln) rs11466111
NM_002739.5(PRKCG):c.285C>T (p.Asp95=) rs17854523
NM_003098.2(SNTA1):c.221C>T (p.Pro74Leu) rs572545726
NM_003098.2(SNTA1):c.566C>T (p.Ser189Leu) rs144860423
NM_003098.2(SNTA1):c.770C>G (p.Ala257Gly) rs56157422
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620
NM_003265.3(TLR3):c.1234C>T (p.Leu412Phe) rs3775291
NM_003276.2(TMPO):c.280-8G>A rs943754313
NM_003283.6(TNNT1):c.129-9T>G rs67795913
NM_003482.3(KMT2D):c.10192A>G (p.Met3398Val) rs75937132
NM_003640.5(ELP1):c.2543C>A (p.Thr848Asn) rs10979599
NM_003640.5(ELP1):c.2587+14C>T rs141670242
NM_003640.5(ELP1):c.2855A>T (p.Lys952Ile) rs2230798
NM_003640.5(ELP1):c.751A>G (p.Ser251Gly) rs17853166
NM_003640.5(ELP1):c.934G>A (p.Glu312Lys) rs1140064
NM_003640.5(ELP1):c.959-15C>T rs112114410
NM_004064.4(CDKN1B):c.426G>A (p.Thr142=) rs149775942
NM_004115.3(FGF14):c.636T>C (p.His212=) rs41281644
NM_004509.4(SP110):c.1591-9C>T rs202101309
NM_004519.4(KCNQ3):c.2306C>A (p.Pro769His) rs114095081
NM_004572.3(PKP2):c.184C>A (p.Gln62Lys) rs199601548
NM_004572.3(PKP2):c.2300-20dup rs746936605
NM_004977.2(KCNC3):c.1641G>A (p.Ser547=) rs2301357
NM_004977.2(KCNC3):c.2170+14C>T rs189018316
NM_004984.4(KIF5A):c.2839A>G (p.Thr947Ala) rs150672943
NM_004984.4(KIF5A):c.2957C>T (p.Pro986Leu) rs113247976
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val) rs78042826
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg) rs587776934
NM_005249.5(FOXG1):c.1323C>T (p.Ser441=) rs144434028
NM_005472.5(KCNE3):c.248G>A (p.Arg83His) rs17215437
NM_005535.3(IL12RB1):c.467G>A (p.Arg156His) rs11575926
NM_005535.3(IL12RB1):c.641A>G (p.Gln214Arg) rs11575934
NM_005535.3(IL12RB1):c.783+10C>T rs79972275
NM_005546.3(ITK):c.1759G>A (p.Val587Ile) rs56005928
NM_005590.4(MRE11):c.120C>T (p.Leu40=) rs1805364
NM_005591.3(MRE11):c.315-4del rs35062043
NM_005751.4(AKAP9):c.80C>T (p.Ser27Leu) rs142401936
NM_006019.4(TCIRG1):c.1800C>T (p.Ala600=) rs145144233
NM_006031.6(PCNT):c.8671G>A (p.Ala2891Thr) rs33956783
NM_006397.2(RNASEH2A):c.662A>G (p.Lys221Arg) rs143534021
NM_006772.3(SYNGAP1):c.84T>C (p.Ser28=) rs142359891
NM_006892.4(DNMT3B):c.1150G>A (p.Ala384Thr) rs150682895
NM_007254.4(PNKP):c.1029+2T>C rs199919568
NM_007254.4(PNKP):c.1127-8C>T rs3739203
NM_007254.4(PNKP):c.188C>T (p.Ala63Val) rs3739173
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser) rs3739185
NM_007294.3(BRCA1):c.4097-141A>C rs799916
NM_007294.3(BRCA1):c.4485-63C>G rs273900734
NM_007294.3(BRCA1):c.5075-53C>T rs8176258
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=) rs28897679
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467
NM_007294.4(BRCA1):c.2351C>T (p.Ser784Leu) rs55914168
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709
NM_007294.4(BRCA1):c.2522G>A (p.Arg841Gln) rs80357337
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu) rs80357201
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687
NM_007294.4(BRCA1):c.3823A>G (p.Ile1275Val) rs80357280
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689
NM_007294.4(BRCA1):c.4314C>G (p.Ala1438=) rs80356856
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744
NM_007294.4(BRCA1):c.4636G>A (p.Asp1546Asn) rs28897691
NM_007294.4(BRCA1):c.4812A>G (p.Gln1604=) rs28897693
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr) rs4986854
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967
NM_007294.4(BRCA1):c.5074+3A>G rs80358181
NM_007294.4(BRCA1):c.5158A>G (p.Thr1720Ala) rs56195342
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465
NM_007375.3(TARDBP):c.198T>C (p.Ala66=) rs61730366
NM_012224.3(NEK1):c.1388C>T (p.Ala463Val) rs34540355
NM_012388.3(BLOC1S6):c.82+10A>G rs370370639
NM_013254.4(TBK1):c.1391T>C (p.Val464Ala) rs35635889
NM_013339.4(ALG6):c.257+5G>A rs199682486
NM_013339.4(ALG6):c.391T>C (p.Tyr131His) rs35383149
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile) rs146722795
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val) rs35550482
NM_014629.4(ARHGEF10):c.38-10T>C rs138713415
NM_014646.2(LPIN2):c.1169-7del rs746626720
NM_014646.2(LPIN2):c.1735T>C (p.Ser579Pro) rs150022314
NM_014646.2(LPIN2):c.2671G>A (p.Asp891Asn) rs200648652
NM_014946.3(SPAST):c.131C>T (p.Ser44Leu) rs121908515
NM_014946.4(SPAST):c.1496G>A rs878854991
NM_015192.4(PLCB1):c.1469A>G (p.Tyr490Cys) rs45608240
NM_015192.4(PLCB1):c.2413+9C>T rs138442805
NM_015910.7(WDPCP):c.1448G>A (p.Arg483Gln) rs544657165
NM_015910.7(WDPCP):c.2063A>G (p.Asn688Ser) rs61734468
NM_016038.4(SBDS):c.258+2T>C rs113993993
NM_016038.4(SBDS):c.635T>C (p.Ile212Thr) rs79344818
NM_016327.3(UPB1):c.105-2A>G rs138081800
NM_016373.4(WWOX):c.517-108230A>G rs77067228
NM_016599.5(MYOZ2):c.237A>G (p.Ala79=) rs17851524
NM_016729.3(FOLR1):c.292C>T (p.Arg98Trp) rs76191655
NM_016729.3(FOLR1):c.493+2T>C rs144637717
NM_017636.4(TRPM4):c.3611C>T (p.Pro1204Leu) rs150391806
NM_017890.4(VPS13B):c.4821-14C>T rs112780006
NM_017890.4(VPS13B):c.5681C>T (p.Thr1894Met) rs117148013
NM_017890.4(VPS13B):c.7227G>A (p.Pro2409=) rs61753725
NM_017890.4(VPS13B):c.9405+9A>G rs184381851
NM_017890.4(VPS13B):c.9667C>T (p.Arg3223Trp) rs149842139
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018082.5(POLR3B):c.1568T>A rs138249161
NM_018344.6(SLC29A3):c.1001A>G (p.Asn334Ser) rs144665176
NM_020433.5(JPH2):c.1513G>A (p.Gly505Ser) rs140740776
NM_020433.5(JPH2):c.1971G>A (p.Glu657=) rs142333841
NM_020433.5(JPH2):c.380-6C>T rs201197277
NM_020433.5(JPH2):c.624C>G (p.Ala208=) rs398124358
NM_020458.4(TTC7A):c.649-10C>T rs149360779
NM_020529.2(NFKBIA):c.548-3C>T rs2233418
NM_020655.4(JPH3):c.382+760CTG[11] rs71156237
NM_020774.3(MIB1):c.1588C>T (p.Arg530Ter) rs201850378
NM_021167.5(GATAD1):c.762G>A (p.Gly254=) rs139637606
NM_022436.3(ABCG5):c.1864A>G (p.Met622Val) rs140374206
NM_023073.3(CPLANE1):c.3743G>A (p.Gly1248Asp) rs72736758
NM_023073.3(CPLANE1):c.5421G>A (p.Lys1807=) rs149313666
NM_023073.3(CPLANE1):c.8182C>A (p.Pro2728Thr) rs77014998
NM_024306.5(FA2H):c.289C>G (p.Pro97Ala) rs35874850
NM_024411.5(PDYN):c.436A>C (p.Met146Leu) rs77155664
NM_024422.6(DSC2):c.1350A>G (p.Arg450=) rs144242114
NM_024422.6(DSC2):c.2125+1del rs794728072
NM_024422.6(DSC2):c.2365GGA[1] (p.Gly790del) rs377272752
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085
NM_024422.6(DSC2):c.270G>A (p.Glu90=) rs138643506
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys) rs144799937
NM_024422.6(DSC2):c.351A>G (p.Thr117=) rs117812913
NM_024422.6(DSC2):c.907G>A (p.Val303Met) rs145560678
NM_024422.6(DSC2):c.943-1G>A rs796756333
NM_024649.5(BBS1):c.24T>C (p.Asp8=) rs55848325
NM_024685.4(BBS10):c.164T>C (p.Leu55Pro) rs1460517643
NM_024809.5(TCTN2):c.599G>A (p.Arg200Gln) rs79251326
NM_025137.4(SPG11):c.1108G>A (p.Glu370Lys) rs77697105
NM_025137.4(SPG11):c.1698T>G (p.Asp566Glu) rs79708848
NM_025137.4(SPG11):c.2083G>A (p.Ala695Thr) rs78183930
NM_025137.4(SPG11):c.257+13G>A rs201936649
NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg) rs76389165
NM_025137.4(SPG11):c.395G>A (p.Ser132Asn) rs145132275
NM_025137.4(SPG11):c.6224A>G (p.Asn2075Ser) rs140824939
NM_025137.4(SPG11):c.6319G>A (p.Val2107Ile) rs115970214
NM_025137.4(SPG11):c.7023C>T (p.Tyr2341=) rs80338869
NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg) rs76116949
NM_025137.4(SPG11):c.808G>A (p.Val270Ile) rs80338868
NM_025243.4(SLC19A3):c.421G>A (p.Gly141Ser) rs148144444
NM_025243.4(SLC19A3):c.621A>G (p.Ile207Met) rs145804755
NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile) rs143301610
NM_030777.4(SLC2A10):c.816C>G (p.Ala272=) rs148058006
NM_030930.4(UNC93B1):c.393-10C>T rs117183629
NM_030962.3(SBF2):c.3292C>G (p.Leu1098Val) rs117957652
NM_031471.6(FERMT3):c.1317G>A (p.Gln439=) rs72920390
NM_031885.4(BBS2):c.805-20A>G rs41280892
NM_032193.3(RNASEH2C):c.468G>T (p.Ala156=) rs61736590
NM_032578.3(MYPN):c.1246-19G>A rs75739924
NM_032578.4(MYPN):c.1104C>T (p.Gly368=) rs144764983
NM_032578.4(MYPN):c.1130G>A (p.Arg377Gln) rs147596628
NM_032578.4(MYPN):c.1134C>T (p.Ile378=) rs145701607
NM_032578.4(MYPN):c.1236C>A (p.Thr412=) rs151220474
NM_032578.4(MYPN):c.1460-14T>A rs201156035
NM_032578.4(MYPN):c.2925+9G>C rs12241644
NM_032578.4(MYPN):c.3124C>T (p.Arg1042Cys) rs151282801
NM_032578.4(MYPN):c.3481C>A (p.Leu1161Ile) rs138313730
NM_032975.4(DTNA):c.1492-10G>T rs192561043
NM_032975.4(DTNA):c.1910+14G>A rs76713874
NM_032978.7(DTNA):c.210G>A (p.Leu70=) rs117571555
NM_032978.7(DTNA):c.604-14G>T rs397517447
NM_033118.3(MYLK2):c.1356G>A (p.Glu452=) rs147329431
NM_033118.4(MYLK2):c.1295+4C>A rs113936360
NM_052945.3(TNFRSF13C):c.317G>A (p.Arg106Gln) rs150374940
NM_080911.3(UNG):c.533+6G>A rs55812333
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met) rs45500692
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr) rs45503297
NM_139276.2(STAT3):c.1329C>T (p.Thr443=) rs147955721
NM_144588.7(ZFYVE27):c.62C>T (p.Ala21Val) rs140812293
NM_144687.3(NLRP12):c.2830C>A (p.Arg944=) rs104895570
NM_145046.4(CALR3):c.125A>G (p.Asn42Ser) rs149634686
NM_145046.4(CALR3):c.245A>G (p.Lys82Arg) rs142951029
NM_145046.4(CALR3):c.398-6T>C rs376479901
NM_145046.4(CALR3):c.564del (p.Gln189fs) rs747656642
NM_145046.4(CALR3):c.60C>G (p.Thr20=) rs370721650
NM_145207.3(SPATA5):c.983CAA[2] (p.Thr330del) rs796052243
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys) rs17006082
NM_172351.3(CD46):c.417A>G (p.Leu139=) rs12126088
NM_174936.3(PCSK9):c.158C>T (p.Ala53Val)
NM_176824.3(BBS7):c.1512-7A>T rs115987385
NM_182746.3(MCM4):c.2064G>A (p.Lys688=) rs143488457
NM_182895.5(SCARF2):c.1967C>T (p.Pro656Leu) rs9680797
NM_182914.2(SYNE2):c.12122G>A (p.Arg4041His) rs17101661
NM_182914.2(SYNE2):c.12572G>A (p.Gly4191Asp) rs145227848
NM_182914.2(SYNE2):c.16178C>T (p.Ala5393Val) rs147173048
NM_182914.2(SYNE2):c.19248C>G (p.Pro6416=) rs150363140
NM_182914.2(SYNE2):c.20011G>A (p.Ala6671Thr) rs34820571
NM_182914.2(SYNE2):c.20158C>T (p.Arg6720Trp) rs35700578
NM_182914.2(SYNE2):c.20410G>A (p.Asp6804Asn) rs150644129
NM_198428.3(BBS9):c.1246G>A (p.Val416Met) rs61764067
NM_198428.3(BBS9):c.1648A>G (p.Ile550Val) rs150399299
NM_198428.3(BBS9):c.2299-20A>C rs17727583
NM_198428.3(BBS9):c.2632+9C>A rs148654647
NM_201596.3(CACNB2):c.1518C>T (p.Arg506=) rs34813638
NM_201596.3(CACNB2):c.1560T>C (p.Pro520=) rs150280879
NM_201596.3(CACNB2):c.1670C>T (p.Ser557Leu) rs137886839

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