ClinVar Miner

Variants from Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen with conflicting interpretations

Location: Germany — Primary collection method: clinical testing
Minimum review status of the submission from Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen: Collection method of the submission from Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen:
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
1033 608 0 186 0 15 100 274

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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor other
pathogenic 0 107 46 2 2 3 7 3
likely pathogenic 79 0 47 8 4 0 1 1

Submitter to submitter summary #

Total submitters: 56
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 0 456 0 68 0 0 25 93
CeGaT Praxis fuer Humangenetik Tuebingen 0 313 0 43 0 0 18 61
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 168 0 24 0 2 20 46
Invitae 0 179 0 19 0 0 14 33
Illumina Clinical Services Laboratory,Illumina 0 35 0 7 0 0 12 19
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 18 0 5 0 0 12 17
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 83 0 13 0 0 3 16
Athena Diagnostics Inc 0 73 0 8 0 0 5 13
OMIM 0 25 0 2 0 10 0 12
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 54 0 9 0 0 0 9
Department of Pathology and Laboratory Medicine,Sinai Health System 0 23 0 2 0 0 6 8
Integrated Genetics/Laboratory Corporation of America 0 11 0 1 0 0 6 7
Quest Diagnostics Nichols Institute San Juan Capistrano 0 81 0 3 0 0 4 7
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 18 0 4 0 0 3 7
Mayo Clinic Laboratories, Mayo Clinic 0 25 0 3 0 0 3 6
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 10 0 5 0 0 1 6
NIHR Bioresource Rare Diseases, University of Cambridge 0 8 0 6 0 0 0 6
Genetic Services Laboratory, University of Chicago 0 8 0 1 0 0 3 4
Blueprint Genetics 0 16 0 4 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 11 0 2 0 0 1 3
PreventionGenetics, PreventionGenetics 0 20 0 1 0 0 2 3
PharmGKB 0 0 0 0 0 3 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 1 0 0 2 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 5 0 3 0 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 38 0 1 0 0 2 3
Inherited Neuropathy Consortium 0 0 0 0 0 0 3 3
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 6 0 1 0 0 1 2
Ambry Genetics 0 34 0 1 0 0 1 2
Institute of Medical Molecular Genetics, University of Zurich 0 0 0 2 0 0 0 2
Laboratory of Molecular Genetics,CHU RENNES 0 0 0 1 0 0 1 2
Undiagnosed Diseases Network,NIH 0 2 0 1 0 0 1 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 2 0 2 0 0 0 2
Leiden Open Variation Database 0 9 0 1 0 0 1 2
Baylor Genetics 0 1 0 0 0 0 1 1
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 5 0 0 0 0 1 1
King Laboratory,University of Washington 0 0 0 0 0 0 1 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 7 0 0 0 0 1 1
Laboratory of Gastroenterology and Hepatology,Radboud University Medical Center 0 0 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 0 1 0 0 0 1
Northcott Neuroscience Laboratory, ANZAC Research Institute 0 0 0 0 0 0 1 1
Service de Génétique Moléculaire,Hôpital Robert Debré 0 4 0 1 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 12 0 1 0 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 1 0 0 0 0 1 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 1 0 0 0 1
Endocrine oncology group, Uppsala University 0 0 0 1 0 0 0 1
Ege University Pediatric Genetics,Ege University 0 0 0 1 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 0 0 0 0 1 1
Sharon lab,Hadassah-Hebrew University Medical Center 0 5 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 3 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 0 0 1 1
University of Washington Department of Laboratory Medicine, University of Washington 0 2 0 0 0 0 1 1
CZECANCA consortium 0 34 0 1 0 0 0 1
Faculty of Health Sciences,Beirut Arab University 0 6 0 1 0 0 0 1
GenomeConnect - Simons Searchlight 0 0 0 1 0 0 0 1
Department of Vascular Biology,Beijing Anzhen Hospital 0 0 0 1 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 7 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 274
Download table as spreadsheet
HGVS dbSNP
NC_012920.1:m.9176T>C rs199476135
NC_012920.1:m.9185T>C rs199476138
NM_000021.4(PSEN1):c.254T>C (p.Leu85Pro) rs63750599
NM_000021.4(PSEN1):c.791C>T (p.Pro264Leu) rs63750301
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp) rs1131691916
NM_000036.2(AMPD1):c.133C>T (p.Gln45Ter) rs17602729
NM_000036.2(AMPD1):c.567G>T (p.Gln189His) rs139582106
NM_000051.3(ATM):c.1898+2T>G rs587782124
NM_000051.3(ATM):c.3G>A (p.Met1Ile) rs781404312
NM_000051.4(ATM):c.7630-2A>C rs587779866
NM_000051.4(ATM):c.7983TGT[2] (p.Val2664del) rs876660743
NM_000059.3(BRCA2):c.7975A>G (p.Arg2659Gly) rs80359026
NM_000059.3(BRCA2):c.8165C>G (p.Thr2722Arg) rs80359062
NM_000059.4(BRCA2):c.658_659del rs80359604
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
NM_000059.4(BRCA2):c.8954-5A>G rs886040949
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp) rs142004418
NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu) rs886042478
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271
NM_000107.3(DDB2):c.730_733del (p.Lys243_Lys244insTer) rs1336484333
NM_000138.4(FBN1):c.1090C>T (p.Arg364Ter) rs794728165
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000232.5(SGCB):c.341C>T rs150518260
NM_000243.2(MEFV):c.2084A>G rs104895094
NM_000243.2(MEFV):c.2230G>T rs61732874
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374
NM_000256.3(MYBPC3):c.927-9G>A rs397516083
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390
NM_000260.4(MYO7A):c.5208dup (p.Lys1737fs) rs111033276
NM_000260.4(MYO7A):c.6439-2A>G rs397516330
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs) rs756815030
NM_000273.3(GPR143):c.232G>A (p.Asp78Asn) rs62635024
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser) rs1555933963
NM_000286.3(PEX12):c.959C>T (p.Ser320Phe) rs28936697
NM_000322.5(PRPH2):c.499G>A (p.Gly167Ser) rs527236098
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp) rs61755792
NM_000330.3(RS1):c.625C>T (p.Arg209Cys) rs281865361
NM_000350.2(ABCA4):c.2588G>C rs76157638
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000350.3(ABCA4):c.1253T>C (p.Phe418Ser) rs794726979
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg) rs61748558
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly) rs61754024
NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys) rs61749420
NM_000350.3(ABCA4):c.214G>A (p.Gly72Arg) rs61751412
NM_000350.3(ABCA4):c.2948C>T (p.Thr983Ile) rs61752411
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs) rs281865377
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404
NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg) rs61753017
NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val) rs760549861
NM_000350.3(ABCA4):c.5461-10T>C rs1800728
NM_000350.3(ABCA4):c.5642C>T (p.Ala1881Val)
NM_000350.3(ABCA4):c.571-1G>T rs61748533
NM_000350.3(ABCA4):c.6215G>A (p.Ser2072Asn) rs1553186514
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564
NM_000350.3(ABCA4):c.6729+5_6729+19del rs749526785
NM_000350.3(ABCA4):c.868C>T (p.Arg290Trp)
NM_000363.5(TNNI3):c.204del (p.Arg69fs) rs727504872
NM_000371.3(TTR):c.379A>G (p.Ile127Val) rs121918089
NM_000390.4(CHM):c.116+1G>A rs786204761
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868
NM_000402.4(G6PD):c.934G>C (p.Asp312His) rs137852318
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897
NM_000440.3(PDE6A):c.2332_2335del (p.Asp778fs) rs754012367
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) rs141252097
NM_000454.4(SOD1):c.272A>C (p.Asp91Ala) rs80265967
NM_000489.5(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000520.6(HEXA):c.1073+1G>A rs76173977
NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter) rs200750564
NM_000527.5(LDLR):c.1358+2T>A rs193922567
NM_000530.8(MPZ):c.166G>A (p.Glu56Lys) rs1571820067
NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del) rs755446743
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593
NM_000540.3(RYR1):c.7523G>A (p.Arg2508His) rs193922818
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys) rs121912698
NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro) rs201346271
NM_001005242.3(PKP2):c.1378+1G>C rs397516994
NM_001006658.2(CR2):c.2298G>A (p.Trp766Ter) rs151093663
NM_001009944.3(PKD1):c.6643C>T (p.Arg2215Trp) rs752793757
NM_001029896.2(WDR45):c.766_794del (p.Asp257fs) rs1569523457
NM_001040142.2(SCN2A):c.4633A>G (p.Met1545Val) rs796053150
NM_001040142.2(SCN2A):c.4976C>T (p.Ala1659Val) rs1060503101
NM_001042492.3(NF1):c.1019_1020del (p.Ser340fs) rs1555610903
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993
NM_001048174.2(MUTYH):c.954G>A (p.Ser318=) rs372673338
NM_001069.3(TUBB2A):c.743C>T (p.Ala248Val) rs2808001
NM_001079668.3(NKX2-1):c.664G>T (p.Glu222Ter) rs1555349209
NM_001083962.2(TCF4):c.1738C>T (p.Arg580Trp) rs121909120
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938
NM_001101.5(ACTB):c.625G>A (p.Val209Met) rs587779777
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu) rs606231451
NM_001126131.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_001126131.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_001127222.2(CACNA1A):c.3692+1G>A rs1315533129
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His) rs121908216
NM_001127222.2(CACNA1A):c.4997G>A (p.Arg1666Gln) rs1568447650
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu) rs1064794261
NM_001127713.1(ATL1):c.715C>T (p.Arg239Cys) rs119476046
NM_001127713.1(ATL1):c.757G>A (p.Val253Ile) rs864622520
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter) rs200440467
NM_001134363.3(RBM20):c.1222dup (p.Leu408fs) rs1564844428
NM_001142800.2(EYS):c.2137+1G>A rs199740930
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser) rs201652272
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr) rs749909863
NM_001145661.2(GATA2):c.1084C>T (p.Arg362Ter) rs1553770510
NM_001163435.3(TBCK):c.2512C>T (p.Gln838Ter)
NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp) rs374434303
NM_001172509.2(SATB2):c.1756C>T (p.Gln586Ter) rs1559136245
NM_001193416.3(DDX3X):c.1423C>T (p.Arg475Cys) rs1064794574
NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp) rs879253888
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu) rs753334568
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411
NM_001330691.3(CEP78):c.1424del (p.Val475fs)
NM_001351834.2(ATM):c.381del (p.Thr127_Val128insTer) rs587781831
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_001540.5(HSPB1):c.250G>A (p.Gly84Arg) rs770272088
NM_001605.2(AARS1):c.2738G>A (p.Gly913Asp) rs369774476
NM_001844.5(COL2A1):c.1546G>A (p.Gly516Ser) rs886041895
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916
NM_001943.5(DSG2):c.2349C>A (p.Tyr783Ter) rs1064793983
NM_001972.4(ELANE):c.170C>T (p.Ala57Val) rs1057520110
NM_002693.2(POLG):c.926G>A (p.Arg309His) rs780953863
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054
NM_002693.3(POLG):c.2243G>C rs113994097
NM_002834.5(PTPN11):c.1472C>A (p.Pro491His) rs397507540
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329
NM_002878.3(RAD51D):c.796C>T (p.Arg266Cys) rs587781813
NM_003002.4(SDHD):c.113_116dup (p.Ile40fs)
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr) rs201082652
NM_003119.2(SPG7):c.1529C>T rs61755320
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620
NM_003136.4(SRP54):c.343ACA[2] (p.Thr117del) rs1555354198
NM_003709.4(KLF7):c.790G>A (p.Asp264Asn) rs1057518995
NM_003907.3(EIF2B5):c.806G>A (p.Arg269Gln)
NM_003919.3(SGCE):c.549_552del (p.Phe183fs) rs1554352952
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.6(GJB2):c.35dup (p.Val13fs) rs80338939
NM_004035.7(ACOX1):c.710A>G (p.Asn237Ser) rs1567876984
NM_004183.4(BEST1):c.422G>A (p.Arg141His) rs121918284
NM_004183.4(BEST1):c.703G>T (p.Val235Leu)
NM_004187.5(KDM5C):c.2041C>T (p.Arg681Ter)
NM_004187.5(KDM5C):c.3392_3393del (p.Glu1131fs) rs1602163752
NM_004321.7(KIF1A):c.647G>A (p.Arg216His) rs672601368
NM_004321.7(KIF1A):c.761G>A (p.Arg254Gln) rs886041692
NM_004321.7(KIF1A):c.821C>T (p.Ser274Leu) rs797045655
NM_004321.7(KIF1A):c.947G>A (p.Arg316Gln) rs749718096
NM_004523.4(KIF11):c.2830C>T (p.Arg944Cys) rs387906642
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys) rs116171274
NM_004984.4(KIF5A):c.839G>A (p.Arg280His) rs387907288
NM_004985.5(KRAS):c.40G>A (p.Val14Ile) rs104894365
NM_005105.5(RBM8A):c.67+32G>C rs201779890
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413
NM_005476.7(GNE):c.5A>G (p.Glu2Gly)
NM_005554.4(KRT6A):c.1385T>A (p.Ile462Asn) rs57629991
NM_005559.4(LAMA1):c.2935del (p.Arg979fs) rs758601967
NM_005633.3(SOS1):c.1310T>C (p.Ile437Thr) rs397517150
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del) rs786204835
NM_005984.5(SLC25A1):c.517_526del (p.Arg173fs) rs483352911
NM_006005.3(WFS1):c.1037C>T (p.Pro346Leu) rs773900146
NM_006009.4(TUBA1A):c.521C>T (p.Ala174Val) rs587784489
NM_006086.4(TUBB3):c.785G>A (p.Arg262His) rs864321716
NM_006245.4(PPP2R5D):c.619T>C (p.Trp207Arg) rs869320691
NM_006269.2(RP1):c.2161del (p.Gly723fs) rs755429480
NM_006343.3(MERTK):c.2163T>A (p.His721Gln)
NM_006494.4(ERF):c.1201_1202del (p.Lys401fs) rs1064794325
NM_006517.5(SLC16A2):c.979G>A (p.Gly327Arg) rs587784383
NM_006790.2(MYOT):c.164C>T (p.Ser55Phe) rs121908457
NM_006852.4(TLK2):c.2092C>T (p.Arg698Ter) rs1555669421
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr) rs1057518801
NM_007055.4(POLR3A):c.1771-7C>G rs201314157
NM_007186.6(CEP250):c.4006C>T (p.Arg1336Ter) rs774702094
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter) rs371418985
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982
NM_007194.4(CHEK2):c.444+1G>A rs121908698
NM_007194.4(CHEK2):c.592+3A>T rs587782849
NM_007194.4(CHEK2):c.846+4_846+7del rs764884641
NM_007294.3(BRCA1):c.5193+1del rs397509236
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs80357906
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter) rs80356978
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met) rs80357268
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_014053.4(FLVCR1):c.1092+5G>A rs556788423
NM_014053.4(FLVCR1):c.1318_1321del (p.Thr440fs) rs1572027164
NM_014053.4(FLVCR1):c.755del (p.Gly252fs)
NM_014053.4(FLVCR1):c.847G>C (p.Ala283Pro) rs777525949
NM_014168.4(METTL5):c.571_572del (p.Lys191fs) rs1573965358
NM_014249.4(NR2E3):c.227G>A (p.Arg76Gln) rs104894493
NM_014363.6(SACS):c.7162_7163del (p.Thr2388fs) rs1555251539
NM_014845.5(FIG4):c.122T>C (p.Ile41Thr) rs121908287
NM_014946.3(SPAST):c.1173+1G>A rs1060502226
NM_014946.3(SPAST):c.1785C>A (p.Ser595Arg) rs145206063
NM_014946.4(SPAST):c.1173G>A (p.Leu391=)
NM_014946.4(SPAST):c.1496G>A rs878854991
NM_015178.3(RHOBTB2):c.1376A>G (p.Asp459Gly)
NM_015178.3(RHOBTB2):c.1465C>G (p.Arg489Gly)
NM_015909.4(NBAS):c.2950del (p.Ile984fs) rs776797592
NM_016035.5(COQ4):c.437T>G (p.Phe146Cys) rs1163170578
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter) rs120074160
NM_016038.4(SBDS):c.258+2T>C rs113993993
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs) rs398124308
NM_017934.7(PHIP):c.919_923del (p.Ile307fs)
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) rs542489955
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr) rs199504211
NM_018136.5(ASPM):c.1674T>A (p.Tyr558Ter) rs933106143
NM_019098.4(CNGB3):c.1148del (p.Thr383fs) rs397515360
NM_020191.3(MRPS22):c.878+1G>T rs775354826
NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln)
NM_020822.3(KCNT1):c.785G>A (p.Arg262Gln) rs1554771469
NM_022575.4(VPS16):c.1903C>T (p.Arg635Ter)
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933
NM_024577.4(SH3TC2):c.805+2T>C
NM_024675.3(PALB2):c.1653T>A (p.Tyr551Ter) rs118203997
NM_024675.3(PALB2):c.2559C>T (p.Gly853=) rs180177115
NM_024675.4(PALB2):c.172_175del (p.Gln60fs) rs180177143
NM_024757.5(EHMT1):c.2426C>T (p.Pro809Leu) rs587780332
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565
NM_030582.4(COL18A1):c.4054_4055del (p.Leu1352fs) rs398122391
NM_030662.3(MAP2K2):c.181A>G (p.Lys61Glu) rs730880517
NM_031263.4(HNRNPK):c.253G>A (p.Glu85Lys) rs1554700678
NM_032043.2(BRIP1):c.1425_1429del (p.Leu475fs) rs768736851
NM_032043.2(BRIP1):c.2992_2993del (p.Lys998fs) rs878855151
NM_032436.4(CHAMP1):c.2127T>G (p.Tyr709Ter) rs1555379968
NM_033056.4(PCDH15):c.1997+1G>A rs763797356
NM_033056.4(PCDH15):c.3983+1G>T rs758921360
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) rs794727197
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345
NM_057175.5(NAA15):c.239_240del (p.His80fs) rs779009256
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter) rs200293302
NM_058216.3(RAD51C):c.706-2A>G rs587780259
NM_058216.3(RAD51C):c.904+5G>T rs587782702
NM_058216.3(RAD51C):c.905-2_905-1del rs587781995
NM_145207.3(SPATA5):c.983CAA[2] (p.Thr330del) rs796052243
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) rs1064797245
NM_152464.3(TMEM199):c.20C>A (p.Ala7Glu) rs369488804
NM_170675.5(MEIS2):c.992GAA[2] (p.Arg333del) rs879255264
NM_172107.4(KCNQ2):c.431G>A (p.Arg144Gln) rs796052618
NM_172107.4(KCNQ2):c.793G>A (p.Ala265Thr) rs794727740
NM_173477.5(USH1G):c.310A>G (p.Met104Val) rs149529031
NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp) rs267607017
NM_182931.3(KMT2E):c.280del (p.Thr94fs) rs1584746915
NM_183075.3(CYP2U1):c.1396C>T (p.Arg466Ter) rs766380148
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) rs62635654
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
NM_205861.3(DHDDS):c.110G>A (p.Arg37His) rs1553121073
NM_206933.3(USH2A):c.1036A>C (p.Asn346His) rs369522997
NM_206933.3(USH2A):c.12268C>A (p.Pro4090Thr) rs780893919
NM_206933.3(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156
NM_206933.4(USH2A):c.10759C>T (p.Gln3587Ter) rs111033418
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.4(USH2A):c.653T>A (p.Val218Glu) rs397518026
NM_213599.2(ANO5):c.155A>G rs143777403
NM_213599.2(ANO5):c.1664G>T (p.Ser555Ile) rs375014127
NM_213599.2(ANO5):c.2498T>A (p.Met833Lys) rs142073798
NM_213599.2(ANO5):c.41-1G>A rs398124625
NM_213622.4(STAMBP):c.112C>T (p.Arg38Cys) rs143739249

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