ClinVar Miner

Variants from DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center with conflicting interpretations

Location: Netherlands — Primary collection method: clinical testing
Minimum review status of the submission from DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center: Collection method of the submission from DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center:
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
120 749 7 471 237 2 17 604

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
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center pathogenic likely pathogenic uncertain significance likely benign benign drug response other
pathogenic 7 35 7 0 0 0 0
likely pathogenic 10 0 1 0 0 0 0
uncertain significance 5 4 0 20 12 0 1
likely benign 0 0 132 0 213 0 0
benign 2 0 78 213 0 1 0

Submitter to submitter summary #

Total submitters: 58
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 0 411 0 143 109 0 3 255
Invitae 0 172 0 114 22 1 3 140
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 389 0 104 4 0 2 110
Counsyl 0 137 0 58 14 0 1 73
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 626 0 65 3 0 2 70
Breast Cancer Information Core (BIC) (BRCA2) 0 79 0 3 60 0 3 66
Mendelics 0 45 0 54 9 0 1 64
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 175 0 51 1 0 1 53
Sharing Clinical Reports Project (SCRP) 0 133 0 16 12 0 0 28
Breast Cancer Information Core (BIC) (BRCA1) 0 58 0 0 26 0 1 27
Fulgent Genetics,Fulgent Genetics 0 33 0 20 2 0 1 23
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 47 0 20 2 0 0 22
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 210 0 18 2 0 0 20
Michigan Medical Genetics Laboratories,University of Michigan 0 91 0 16 3 0 0 19
OMIM 0 40 0 4 7 1 6 18
Natera, Inc. 0 64 0 12 3 0 1 16
Pathway Genomics 0 23 0 14 0 0 0 14
GeneReviews 0 20 7 1 0 0 2 10
Institute of Human Genetics, University of Leipzig Medical Center 0 20 0 3 5 0 2 10
Baylor Genetics 0 17 0 3 4 0 2 9
Department of Medical Genetics, University Hospital of North Norway 0 1 0 5 1 0 0 6
Department of Pathology and Laboratory Medicine,Sinai Health System 0 9 0 4 1 0 0 5
Myriad Women's Health, Inc. 0 11 0 3 0 0 1 4
Integrated Genetics/Laboratory Corporation of America 0 10 0 1 0 0 2 3
Center for Medical Genetics Ghent,University of Ghent 0 2 0 2 0 0 1 3
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 0 0 3 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 14 0 2 0 0 1 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 0 0 3 0 0 3
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 0 0 1 1 0 0 2
Genetic Services Laboratory, University of Chicago 0 12 0 1 1 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 6 0 1 0 0 1 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 4 0 2 0 0 0 2
Phosphorus, Inc. 0 3 0 1 1 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 0 2 0 0 0 2
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova 0 3 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 2 0 0 0 2
ClinGen PAH Variant Curation Expert Panel 0 3 0 2 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 0 1 0 0 1
Elsea Laboratory,Baylor College of Medicine 0 0 0 1 0 0 0 1
Institute of Medical Molecular Genetics, University of Zurich 0 0 0 0 0 0 1 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 4 0 0 0 0 1 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 14 0 0 1 0 0 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 1 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 4 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 10 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 9 0 0 1 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
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 1 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 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 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 4 0 1 0 0 0 1
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile 0 0 0 1 0 0 0 1
Nilou-Genome Lab 0 4 0 0 1 0 0 1
Pars Genome Lab 0 1 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 604
Download table as spreadsheet
HGVS dbSNP
NM_000022.4(ADA):c.162G>A (p.Lys54=) rs45557242
NM_000022.4(ADA):c.606+10G>A rs201045221
NM_000027.4(AGA):c.281+13T>G rs34241758
NM_000027.4(AGA):c.336del (p.Ile112fs) rs386833422
NM_000043.6(FAS):c.369G>A (p.Gln123=) rs28362318
NM_000043.6(FAS):c.578A>G (p.Lys193Arg) rs150489856
NM_000051.3(ATM):c.162T>C (p.Tyr54=) rs3218690
NM_000051.3(ATM):c.1744T>C (p.Phe582Leu) rs2235006
NM_000051.3(ATM):c.4324T>C (p.Tyr1442His) rs201666889
NM_000051.3(ATM):c.4473C>T (p.Phe1491=) rs4988008
NM_000051.3(ATM):c.609C>T (p.Asp203=) rs144709948
NM_000051.3(ATM):c.6235G>A (p.Val2079Ile) rs1800060
NM_000051.3(ATM):c.7390T>C (p.Cys2464Arg) rs55801750
NM_000051.3(ATM):c.7475T>G (p.Leu2492Arg) rs56399857
NM_000051.3(ATM):c.7919C>T (p.Thr2640Ile) rs4988125
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059
NM_000051.4(ATM):c.5793T>C (p.Ala1931=) rs3092910
NM_000059.3(BRCA2):c.-11C>T rs76874770
NM_000059.3(BRCA2):c.-39-2A>G rs1555280053
NM_000059.3(BRCA2):c.1040A>G (p.Gln347Arg) rs55800493
NM_000059.3(BRCA2):c.1342C>T (p.Arg448Cys) rs80358422
NM_000059.3(BRCA2):c.1788T>C (p.Asp596=) rs11571642
NM_000059.3(BRCA2):c.1911T>C (p.Gly637=) rs11571652
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.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.4241C>T (p.Thr1414Met) rs70953664
NM_000059.3(BRCA2):c.4584C>T (p.Ser1528=) rs80359788
NM_000059.3(BRCA2):c.4681C>A (p.His1561Asn) rs2219594
NM_000059.3(BRCA2):c.517-19C>T rs11571623
NM_000059.3(BRCA2):c.5427C>T (p.Cys1809=) rs80359791
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048
NM_000059.3(BRCA2):c.631+25C>T rs367871824
NM_000059.3(BRCA2):c.635_636del (p.Arg212fs) rs80359575
NM_000059.3(BRCA2):c.6399_6401del (p.Asn2135del) rs80359581
NM_000059.3(BRCA2):c.6412G>T (p.Val2138Phe) rs11571659
NM_000059.3(BRCA2):c.6465C>T (p.Leu2155=) rs746099644
NM_000059.3(BRCA2):c.67+4T>C rs373546450
NM_000059.3(BRCA2):c.7052C>G (p.Ala2351Gly) rs80358932
NM_000059.3(BRCA2):c.7397C>T (p.Ala2466Val) rs169547
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.8215G>A (p.Val2739Ile) rs80359069
NM_000059.3(BRCA2):c.8632+1G>T rs397507997
NM_000059.3(BRCA2):c.8662C>T (p.Arg2888Cys) rs80359123
NM_000059.3(BRCA2):c.8668C>A (p.Leu2890Ile) rs80359127
NM_000059.3(BRCA2):c.8756G>T (p.Gly2919Val) rs80359131
NM_000059.3(BRCA2):c.9253dupA (p.Thr3085Asnfs) rs80359752
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.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.1296_1297del (p.Asn433fs) rs80359276
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.1798T>C (p.Tyr600His) rs75419644
NM_000059.4(BRCA2):c.1804G>A (p.Gly602Arg) rs80358466
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712
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.3515C>T (p.Ser1172Leu) rs80358600
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.4187A>G (p.Gln1396Arg) rs55969723
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.5635G>A (p.Glu1879Lys) rs55996097
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.6100C>T (p.Arg2034Cys) rs1799954
NM_000059.4(BRCA2):c.6220C>A (p.His2074Asn) rs34309943
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.6748A>G (p.Thr2250Ala) rs80358899
NM_000059.4(BRCA2):c.6853A>G (p.Ile2285Val) rs56272235
NM_000059.4(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg) rs4986860
NM_000059.4(BRCA2):c.7463G>A (p.Arg2488Lys) rs80358968
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744
NM_000059.4(BRCA2):c.794-11T>C rs81002822
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys) rs80359027
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.8830A>T (p.Ile2944Phe) rs4987047
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.9104A>C (p.Tyr3035Ser) rs80359165
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.9501+3A>T rs61757642
NM_000059.4(BRCA2):c.9649-20C>T rs56177715
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg) rs28897706
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833
NM_000100.3(CSTB):c.121G>A (p.Val41Met) rs143153487
NM_000110.4(DPYD):c.1905+1G>A rs3918290
NM_000123.3(ERCC5):c.1110T>A (p.Arg370=) rs150791877
NM_000123.3(ERCC5):c.1789G>C (p.Val597Leu) rs4150319
NM_000123.3(ERCC5):c.2353C>T (p.Gln785Ter) rs1244074570
NM_000123.3(ERCC5):c.2818G>A (p.Val940Met) rs146344855
NM_000123.3(ERCC5):c.767A>G (p.Gln256Arg) rs4150313
NM_000123.3(ERCC5):c.960C>T (p.Asp320=) rs4150314
NM_000135.4(FANCA):c.1573A>G (p.Ile525Val) rs755925068
NM_000135.4(FANCA):c.3859G>A (p.Val1287Ile) rs17227354
NM_000159.4(GCDH):c.1011A>G (p.Ala337=) rs2229460
NM_000179.2(MSH6):c.1186C>G (p.Leu396Val) rs2020908
NM_000179.2(MSH6):c.1449G>T (p.Val483=) rs35590297
NM_000179.2(MSH6):c.2633T>C (p.Val878Ala) rs2020912
NM_000179.2(MSH6):c.457+13A>G rs1800933
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu) rs1042821
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000181.4(GUSB):c.454G>A (p.Asp152Asn) rs149606212
NM_000192.3(TBX5):c.786C>T (p.Thr262=) rs375955080
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636
NM_000199.5(SGSH):c.364G>A (p.Gly122Arg) rs761607612
NM_000215.3(JAK3):c.2152G>C (p.Val718Leu) rs146837396
NM_000249.4(MLH1):c.1959G>T (p.Leu653=) rs1800146
NM_000251.2(MSH2):c.1077-10T>C rs17224360
NM_000251.2(MSH2):c.1666T>C (p.Leu556=) rs61756466
NM_000251.2(MSH2):c.2400A>G (p.Leu800=) rs201298777
NM_000251.2(MSH2):c.573C>T (p.Leu191=) rs1800151
NM_000251.2(MSH2):c.965G>A (p.Gly322Asp) rs4987188
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser) rs17217772
NM_000251.3(MSH2):c.471C>A (p.Gly157=) rs61756463
NM_000253.3(MTTP):c.2433G>C (p.Leu811Phe) rs144590904
NM_000253.3(MTTP):c.2657C>T (p.Pro886Leu) rs144600401
NM_000256.3(MYBPC3):c.1246G>A (p.Gly416Ser) rs371513491
NM_000256.3(MYBPC3):c.1458-6G>A rs375347534
NM_000256.3(MYBPC3):c.1467C>T (p.Asp489=) rs35690719
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226
NM_000256.3(MYBPC3):c.1566G>A (p.Ala522=) rs376041792
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.2308G>A (p.Asp770Asn) rs36211723
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.3106C>T (p.Arg1036Cys) rs61729664
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys) rs201312636
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.506-17C>T rs561595897
NM_000256.3(MYBPC3):c.531C>T (p.Arg177=) rs368035400
NM_000256.3(MYBPC3):c.558G>T (p.Pro186=) rs370962887
NM_000256.3(MYBPC3):c.565G>A (p.Val189Ile) rs11570052
NM_000256.3(MYBPC3):c.706A>G (p.Ser236Gly) rs3729989
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074
NM_000256.3(MYBPC3):c.821+5G>A rs397516077
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_000258.3(MYL3):c.307+15C>T rs184025552
NM_000263.4(NAGLU):c.1446G>A (p.Arg482=) rs115994665
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=) rs112751577
NM_000263.4(NAGLU):c.2021G>A (p.Arg674His) rs104894590
NM_000271.5(NPC1):c.1947+14G>T rs3745024
NM_000271.5(NPC1):c.1947+8_1947+11dup rs3837910
NM_000271.5(NPC1):c.1947+8dup rs3837910
NM_000271.5(NPC1):c.2073G>A (p.Pro691=) rs113013085
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=) rs145145840
NM_000271.5(NPC1):c.3450C>T (p.Asn1150=) rs34715591
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=) rs55724504
NM_000271.5(NPC1):c.540C>T (p.Asp180=) rs143656971
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser) rs55680026
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152
NM_000277.3(PAH):c.941C>A (p.Pro314His) rs62642940
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415
NM_000355.4(TCN2):c.280G>A (p.Gly94Ser) rs11557600
NM_000360.4(TH):c.1200+9C>T rs11564717
NM_000360.4(TH):c.16G>A (p.Ala6Thr) rs74555599
NM_000360.4(TH):c.267G>A (p.Arg89=) rs76240471
NM_000360.4(TH):c.684G>A (p.Glu228=) rs11564716
NM_000370.3(TTPA):c.487del (p.Trp163fs) rs397515378
NM_000382.3(ALDH3A2):c.1270C>T (p.Pro424Ser) rs61737992
NM_000391.4(TPP1):c.1117C>G (p.Gln373Glu) rs112812685
NM_000391.4(TPP1):c.509-1G>C rs56144125
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955
NM_000432.3(MYL2):c.170-19T>C rs115522476
NM_000432.3(MYL2):c.353+16G>A rs572363699
NM_000432.4(MYL2):c.381G>A (p.Ala127=) rs2233261
NM_000432.4(MYL2):c.64G>A (p.Glu22Lys) rs104894368
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys) rs118204437
NM_000535.7(PMS2):c.*17G>C rs556089649
NM_000535.7(PMS2):c.1437C>G (p.His479Gln) rs63750685
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala) rs2228007
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile) rs1805324
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln) rs10254120
NM_000535.7(PMS2):c.706-20dup rs60794673
NM_000535.7(PMS2):c.706-4del rs60794673
NM_000538.3(RFXAP):c.24G>A (p.Glu8=) rs540467033
NM_000709.4(BCKDHA):c.708C>T (p.Phe236=) rs146932786
NM_000733.3(CD3E):c.211G>C (p.Asp71His) rs148647954
NM_000767.5(CYP2B6):c.785A>G (p.Lys262Arg) rs2279343
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096
NM_000784.4(CYP27A1):c.1419C>T (p.Val473=) rs138596741
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser) rs72551323
NM_000784.4(CYP27A1):c.789C>T (p.Pro263=) rs143600636
NM_000824.5(GLRB):c.527+7T>C rs138020195
NM_000834.4(GRIN2B):c.2252T>C (p.Ile751Thr) rs876661055
NM_001004334.4(GPR179):c.5385C>T (p.Gly1795=) rs72832276
NM_001004334.4(GPR179):c.5606A>C (p.Gln1869Pro) rs201516786
NM_001005242.3(PKP2):c.1012A>G (p.Thr338Ala) rs139851304
NM_001005242.3(PKP2):c.1116T>C (p.Ala372=) rs142742483
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.1930T>C (p.Ser644Pro) rs144601090
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.505A>G (p.Ser169Gly) rs139139859
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808
NM_001005242.3(PKP2):c.939C>T (p.Ser313=) rs61729381
NM_001005242.3(PKP2):c.951G>A (p.Ala317=) rs61729382
NM_001044.5(SLC6A3):c.114C>T (p.Asn38=) rs6350
NM_001044.5(SLC6A3):c.162C>T (p.Pro54=) rs6351
NM_001044.5(SLC6A3):c.546C>T (p.Asn182=) rs28364996
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=) rs191125006
NM_001077653.2(TBX20):c.1017A>C (p.Thr339=) rs112054378
NM_001080.3(ALDH5A1):c.678G>C (p.Val226=) rs113591366
NM_001082971.2(DDC):c.96C>T (p.Asp32=) rs11575290
NM_001083961.2(WDR62):c.142C>T (p.Leu48Phe) rs62109744
NM_001083961.2(WDR62):c.2991C>T (p.Ala997=) rs77898819
NM_001103.3(ACTN2):c.615+15C>T rs369293885
NM_001103146.3(GIGYF2):c.3629_3630insGC (p.Gln1211fs) rs371622656
NM_001105206.3(LAMA4):c.2655C>T (p.Leu885=) rs35772073
NM_001105206.3(LAMA4):c.2810A>G (p.Glu937Gly) rs35605307
NM_001105206.3(LAMA4):c.3239G>A (p.Arg1080Gln) rs41289902
NM_001105206.3(LAMA4):c.4665+8G>T rs184220860
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.4307A>G (p.Asn1436Ser) rs77029288
NM_001142800.2(EYS):c.1712A>G (p.Gln571Arg) rs61753610
NM_001142800.2(EYS):c.1809C>T (p.Val603=) rs9345601
NM_001142800.2(EYS):c.4554A>C (p.Thr1518=) rs772339340
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) rs112822256
NM_001146261.3(SYT14):c.807AGA[1] (p.Glu270del) rs2307890
NM_001148.6(ANK2):c.10371G>A (p.Thr3457=) rs142908806
NM_001148.6(ANK2):c.1401A>G (p.Ala467=) rs142159132
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_001166114.2(PNPLA6):c.3954C>T (p.Ala1318=) rs34030828
NM_001167617.2(MLH1):c.1852G>A (p.Val618Met) rs35831931
NM_001174150.2(ARL13B):c.105C>T (p.Thr35=) rs146396078
NM_001201543.2(FAM161A):c.2064T>C (p.Ile688=) rs138464813
NM_001205254.2(OCLN):c.1512G>C (p.Lys504Asn) rs776456723
NM_001232.4(CASQ2):c.226G>A (p.Val76Met) rs10801999
NM_001232.4(CASQ2):c.421-15C>G rs199939582
NM_001232.4(CASQ2):c.731A>G (p.His244Arg) rs28730716
NM_001257180.2(SLC20A2):c.1008C>T (p.His336=) rs111553899
NM_001257180.2(SLC20A2):c.1011C>A (p.Thr337=) rs116359869
NM_001257180.2(SLC20A2):c.1254C>T (p.Gly418=) rs115234947
NM_001257180.2(SLC20A2):c.1438G>A (p.Ala480Thr) rs79577461
NM_001257180.2(SLC20A2):c.1812C>T (p.Ala604=) rs116401889
NM_001257180.2(SLC20A2):c.345G>A (p.Thr115=) rs34124953
NM_001257180.2(SLC20A2):c.58T>C (p.Leu20=) rs115993270
NM_001257180.2(SLC20A2):c.909G>A (p.Ala303=) rs75248974
NM_001257180.2(SLC20A2):c.933C>T (p.Tyr311=) rs115902470
NM_001271620.2(ZNF423):c.3157G>A (p.Ala1053Thr) rs147898137
NM_001271620.2(ZNF423):c.507C>T (p.Arg169=) rs16947744
NM_001297.5(CNGB1):c.1122-15C>T rs2303778
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.3898A>G (p.Ile1300Val)
NM_001301365.1(LYST):c.5518T>G (p.Ser1840Ala) rs115330112
NM_001301365.1(LYST):c.6482A>C (p.Glu2161Ala) rs147756847
NM_001301365.1(LYST):c.8487C>T (p.Ile2829=) rs144597913
NM_001330504.1(ALG1):c.440C>T (p.Ser147Leu) rs28939378
NM_001330504.1(ALG1):c.467G>A (p.Ser156Asn) rs17849848
NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys) rs149736764
NM_001358530.2(MOCS1):c.124-69G>A rs45487695
NM_001360.2(DHCR7):c.399C>T (p.Ala133=) rs147424205
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs) rs567500345
NM_001364905.1(LRBA):c.3948A>G (p.Gln1316=) rs35154927
NM_001367624.1(ZNF469):c.457C>G (p.Pro153Ala) rs532620482
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_001875.5(CPS1):c.-4_-3insTTC rs61509952
NM_001875.5(CPS1):c.486T>C (p.Tyr162=) rs138779023
NM_001909.5(CTSD):c.173C>T (p.Ala58Val) rs17571
NM_001909.5(CTSD):c.189C>T (p.Thr63=) rs114051835
NM_001909.5(CTSD):c.639C>G (p.Pro213=) rs146073498
NM_001931.4(DLAT):c.381+22delT rs5794771
NM_001931.5(DLAT):c.570A>G (p.Gln190=) rs143107853
NM_001985.3(ETFB):c.58-212A>C rs143144671
NM_001999.4(FBN2):c.110C>A (p.Pro37Gln) rs201255083
NM_001999.4(FBN2):c.2427T>A (p.Ile809=) rs139686090
NM_001999.4(FBN2):c.2555-7A>G rs28763949
NM_001999.4(FBN2):c.2940C>T (p.Cys980=) rs143255082
NM_001999.4(FBN2):c.4312G>A (p.Glu1438Lys) rs56168072
NM_001999.4(FBN2):c.5448A>G (p.Pro1816=) rs138022198
NM_001999.4(FBN2):c.738G>A (p.Ala246=) rs150087436
NM_001999.4(FBN2):c.8304C>T (p.Asn2768=) rs28763920
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_002474.3(MYH11):c.12G>A (p.Lys4=) rs112650390
NM_002474.3(MYH11):c.2049C>T (p.His683=) rs150924100
NM_002474.3(MYH11):c.291C>T (p.Asn97=) rs113363750
NM_002474.3(MYH11):c.300C>T (p.Ser100=) rs111662326
NM_002474.3(MYH11):c.3828G>A (p.Ala1276=) rs113154524
NM_002474.3(MYH11):c.4522A>G (p.Met1508Val) rs35176378
NM_002474.3(MYH11):c.453G>A (p.Pro151=) rs61734199
NM_002474.3(MYH11):c.4578+3A>G rs143288748
NM_002474.3(MYH11):c.5296-4C>T rs183176702
NM_002474.3(MYH11):c.5566C>T (p.Leu1856=) rs142639688
NM_002474.3(MYH11):c.5614-7G>A rs202120792
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.914A>G (p.Asn305Ser) rs185661462
NM_002474.3(MYH11):c.987C>T (p.Thr329=) rs4781689
NM_002608.4(PDGFB):c.635C>T (p.Thr212Met) rs114786489
NM_002739.5(PRKCG):c.285C>T (p.Asp95=) rs17854523
NM_002968.3(SALL1):c.448AGC[9] (p.Ser159del) rs113614842
NM_003119.2(SPG7):c.1529C>T rs61755320
NM_003276.2(TMPO):c.280-8G>A rs943754313
NM_003332.3(TYROBP):c.94+10G>C rs55746266
NM_003482.3(KMT2D):c.6573G>A (p.Thr2191=) rs202085637
NM_003900.5(SQSTM1):c.822G>C (p.Glu274Asp) rs55793208
NM_003900.5(SQSTM1):c.954C>T (p.Ser318=) rs56092424
NM_004115.3(FGF14):c.636T>C (p.His212=) rs41281644
NM_004181.5(UCHL1):c.53C>A (p.Ser18Tyr) rs5030732
NM_004304.5(ALK):c.2039C>T (p.Thr680Ile) rs35228363
NM_004385.5(VCAN):c.1523T>A (p.Ile508Asn) rs143368552
NM_004385.5(VCAN):c.7419C>T (p.Ser2473=) rs61754536
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.2769G>A (p.Arg923=) rs35225609
NM_004984.4(KIF5A):c.2839A>G (p.Thr947Ala) rs150672943
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg) rs587776934
NM_005211.3(CSF1R):c.2760G>C (p.Glu920Asp) rs34030164
NM_005211.3(CSF1R):c.282C>T (p.Ser94=) rs41287102
NM_005211.3(CSF1R):c.294C>T (p.His98=) rs17652007
NM_005249.5(FOXG1):c.447C>T (p.Ala149=) rs112803404
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_005751.4(AKAP9):c.80C>T (p.Ser27Leu) rs142401936
NM_006019.4(TCIRG1):c.1800C>T (p.Ala600=) rs145144233
NM_006031.6(PCNT):c.406G>A (p.Gly136Ser) rs59183158
NM_006031.6(PCNT):c.4345C>G (p.Gln1449Glu) rs139432601
NM_006031.6(PCNT):c.6384A>G (p.Thr2128=) rs60444527
NM_006031.6(PCNT):c.8671G>A (p.Ala2891Thr) rs33956783
NM_006031.6(PCNT):c.8752-5A>C rs149444205
NM_006204.4(PDE6C):c.1755G>T (p.Lys585Asn) rs45522236
NM_006204.4(PDE6C):c.2466G>A (p.Lys822=) rs79487435
NM_006204.4(PDE6C):c.252G>T (p.Leu84=) rs1131978
NM_006214.4(PHYH):c.321G>A (p.Ser107=) rs115198308
NM_006397.2(RNASEH2A):c.662A>G (p.Lys221Arg) rs143534021
NM_006946.3(SPTBN2):c.157+5G>A rs150159444
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_007255.3(B4GALT7):c.411C>T (p.Phe137=) rs142951817
NM_007294.3(BRCA1):c.5075-53C>T rs8176258
NM_007294.3(BRCA1):c.5152+85del rs8176259
NM_007294.3(BRCA1):c.5278-14C>G rs80358105
NM_007294.3(BRCA1):c.5406+5G>A rs80358073
NM_007294.4(BRCA1):c.1843TCT[1] (p.Ser616del) rs80358329
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.2393C>T (p.Pro798Leu) rs876660005
NM_007294.4(BRCA1):c.2412G>C (p.Gln804His) rs55746541
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113
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.2566T>C (p.Tyr856His) rs80356892
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300
NM_007294.4(BRCA1):c.2733A>G (p.Gly911=) rs1800740
NM_007294.4(BRCA1):c.2814A>G (p.Pro938=) rs80356851
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704
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.3328_3330del (p.Lys1110del) rs80358335
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945
NM_007294.4(BRCA1):c.3640G>T (p.Glu1214Ter) rs80356923
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys) rs28897686
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs) rs80357868
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.4065_4068del (p.Asn1355fs) rs80357508
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.4600G>A (p.Val1534Met) rs55815649
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.4986+6T>C rs80358086
NM_007294.4(BRCA1):c.5117G>C (p.Gly1706Ala) rs80356860
NM_007294.4(BRCA1):c.5158A>G (p.Thr1720Ala) rs56195342
NM_007294.4(BRCA1):c.5365G>T (p.Ala1789Ser) rs80357078
NM_007294.4(BRCA1):c.5406+8T>C rs55946644
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465
NM_007375.3(TARDBP):c.198T>C (p.Ala66=) rs61730366
NM_012179.4(FBXO7):c.1546G>C (p.Asp516His) rs34316445
NM_012179.4(FBXO7):c.540A>G (p.Pro180=) rs41311141
NM_012179.4(FBXO7):c.693C>T (p.Ser231=) rs61752254
NM_012224.3(NEK1):c.1388C>T (p.Ala463Val) rs34540355
NM_012309.4(SHANK2):c.2453G>A (p.Arg818His) rs117843717
NM_012388.3(BLOC1S6):c.294G>T (p.Met98Ile) rs574333116
NM_013339.4(ALG6):c.257+5G>A rs199682486
NM_014317.5(PDSS1):c.589A>G (p.Lys197Glu) rs116424900
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954
NM_014363.6(SACS):c.1656A>G (p.Leu552=) rs1536365
NM_014363.6(SACS):c.3129A>G (p.Ser1043=) rs148878361
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile) rs146722795
NM_014363.6(SACS):c.696T>A (p.Asn232Lys) rs2031640
NM_014391.2(ANKRD1):c.-17A>G rs79341122
NM_014391.2(ANKRD1):c.208-16C>T rs79793575
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val) rs35550482
NM_014425.5(INVS):c.2310C>T (p.His770=) rs116606949
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_014714.4(IFT140):c.1542C>A (p.Leu514=) rs141542834
NM_014714.4(IFT140):c.3693G>A (p.Thr1231=) rs144028766
NM_014714.4(IFT140):c.3711C>T (p.Phe1237=) rs146172074
NM_014956.5(CEP164):c.2772C>G (p.Leu924=) rs117473319
NM_015192.4(PLCB1):c.1469A>G (p.Tyr490Cys) rs45608240
NM_015346.4(ZFYVE26):c.4854C>T (p.Leu1618=) rs151287975
NM_015488.5(PNKD):c.236+1180G>A rs148049021
NM_015548.5(DST):c.645A>T (p.Ser215=) rs113432929
NM_015575.4(GIGYF2):c.1554G>A (p.Glu518=) rs2305138
NM_015575.4(GIGYF2):c.3630_3632del (p.Gln1216del) rs10555297
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_016327.3(UPB1):c.105-2A>G rs138081800
NM_016373.4(WWOX):c.1134C>T (p.Asn378=) rs201088847
NM_016599.5(MYOZ2):c.237A>G (p.Ala79=) rs17851524
NM_016729.3(FOLR1):c.292C>T (p.Arg98Trp) rs76191655
NM_016938.5(EFEMP2):c.1188C>T (p.Ser396=) rs2234473
NM_016938.5(EFEMP2):c.277G>A (p.Gly93Ser) rs2234462
NM_016938.5(EFEMP2):c.368-4G>A rs111550973
NM_016938.5(EFEMP2):c.885C>T (p.Ser295=) rs142509316
NM_017636.4(TRPM4):c.1294G>A (p.Ala432Thr) rs201907325
NM_017636.4(TRPM4):c.1744G>A (p.Gly582Ser) rs172149856
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_018075.5(ANO10):c.980A>G (p.Tyr327Cys) rs146569520
NM_018136.5(ASPM):c.3742-10T>G rs41299587
NM_018344.6(SLC29A3):c.1001A>G (p.Asn334Ser) rs144665176
NM_018965.3(TREM2):c.185G>A (p.Arg62His) rs143332484
NM_020247.5(COQ8A):c.1053C>T (p.Gly351=) rs55958233
NM_020247.5(COQ8A):c.1573-20C>G rs2297416
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_020655.4(JPH3):c.382+760CTG[11] rs71156237
NM_020774.3(MIB1):c.1830-18T>C rs201761957
NM_020774.3(MIB1):c.2827G>T (p.Val943Phe) rs200035428
NM_021076.4(NEFH):c.1947_1964dup (p.646_651AKSPEK[3]) rs147489453
NM_022081.6(HPS4):c.250A>G (p.Ile84Val) rs149830675
NM_022436.3(ABCG5):c.1864A>G (p.Met622Val) rs140374206
NM_022787.4(NMNAT1):c.115+3A>G rs181504239
NM_023073.3(CPLANE1):c.1736C>T (p.Ala579Val) rs191239995
NM_023073.3(CPLANE1):c.3743G>A (p.Gly1248Asp) rs72736758
NM_023073.3(CPLANE1):c.4134T>C (p.Pro1378=) rs79935028
NM_023073.3(CPLANE1):c.4517A>G (p.His1506Arg) rs141911199
NM_023073.3(CPLANE1):c.8124C>T (p.Asp2708=) rs114126795
NM_023073.3(CPLANE1):c.8182C>A (p.Pro2728Thr) rs77014998
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.1521-7C>T rs374810953
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.351A>G (p.Thr117=) rs117812913
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala) rs201015785
NM_024422.6(DSC2):c.943-1G>A rs796756333
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.176C>T (p.Ala59Val) rs552320263
NM_025137.4(SPG11):c.2887A>C (p.Arg963=) rs150689014
NM_025137.4(SPG11):c.6224A>G (p.Asn2075Ser) rs140824939
NM_025137.4(SPG11):c.6258G>T (p.Leu2086=) rs150761878
NM_025243.4(SLC19A3):c.421G>A (p.Gly141Ser) rs148144444
NM_025243.4(SLC19A3):c.621A>G (p.Ile207Met) rs145804755
NM_030582.4(COL18A1):c.3321C>T (p.Pro1107=) rs11544970
NM_030582.4(COL18A1):c.3364_3377= (p.Gly1122_Pro1126=) rs78227997
NM_030582.4(COL18A1):c.4309G>A (p.Asp1437Asn) rs12483377
NM_030777.4(SLC2A10):c.1512G>A (p.Ser504=) rs117587497
NM_030777.4(SLC2A10):c.330C>T (p.Phe110=) rs199848479
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_031471.6(FERMT3):c.1317G>A (p.Gln439=) rs72920390
NM_031885.4(BBS2):c.1413A>C (p.Val471=) rs35294865
NM_031885.4(BBS2):c.1422G>A (p.Ser474=) rs117033008
NM_032193.3(RNASEH2C):c.-10A>G rs77371161
NM_032193.3(RNASEH2C):c.417C>G (p.Gly139=) rs147021687
NM_032193.3(RNASEH2C):c.468G>T (p.Ala156=) rs61736590
NM_032273.4(TMEM126A):c.191G>A (p.Arg64His) rs11556797
NM_032520.5(GNPTG):c.196C>T (p.Arg66Ter) rs193302848
NM_032520.5(GNPTG):c.264C>T (p.Asn88=) rs145313679
NM_032578.3(MYPN):c.1245+20A>G rs111634581
NM_032578.3(MYPN):c.3075+20C>T rs377273417
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.1893G>A (p.Arg631=) rs145440469
NM_032578.4(MYPN):c.1935C>T (p.Pro645=) rs71535754
NM_032578.4(MYPN):c.2236A>G (p.Thr746Ala) rs147287437
NM_032578.4(MYPN):c.2880T>G (p.Ser960=) rs146028308
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_032801.5(JAM3):c.410-14_410-13insCT rs3216140
NM_033100.4(CDHR1):c.1071C>T (p.Ser357=) rs146588811
NM_033100.4(CDHR1):c.1461G>A (p.Gly487=) rs141787212
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345
NM_052945.3(TNFRSF13C):c.317G>A (p.Arg106Gln) rs150374940
NM_080911.3(UNG):c.533+6G>A rs55812333
NM_133433.4(NIPBL):c.6109-3T>C rs145778995
NM_138694.4(PKHD1):c.353del (p.Ser118fs) rs398124483
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_144612.6(LOXHD1):c.4526G>A (p.Gly1509Glu) rs187587197
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_145046.4(CALR3):c.861G>A (p.Thr287=) rs118131979
NM_152490.5(B3GALNT2):c.824_825dup (p.Ile276fs) rs367543075
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys) rs17006082
NM_172351.3(CD46):c.417A>G (p.Leu139=) rs12126088
NM_172364.5(CACNA2D4):c.2516C>T (p.Ala839Val) rs146752598
NM_172364.5(CACNA2D4):c.3356C>T (p.Pro1119Leu) rs145150489
NM_176824.3(BBS7):c.1512-7A>T rs115987385
NM_177965.4(CFAP418):c.528A>G (p.Thr176=) rs143748636
NM_182746.3(MCM4):c.2064G>A (p.Lys688=) rs143488457
NM_182914.2(SYNE2):c.12572G>A (p.Gly4191Asp) rs145227848
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_194456.1(KRIT1):c.1095A>G (p.Gly365=) rs143710815
NM_194456.1(KRIT1):c.77G>A (p.Arg26Gln) rs34358665
NM_198428.3(BBS9):c.1246G>A (p.Val416Met) rs61764067
NM_198428.3(BBS9):c.2299-20A>C rs17727583

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