ClinVar Miner

Variants from Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City with conflicting interpretations

Location: Saudi Arabia — Primary collection method: clinical testing
Minimum review status of the submission from Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City: Collection method of the submission from Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City:
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
531 170 9 130 7 1 63 194

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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City pathogenic likely pathogenic uncertain significance likely benign benign other
pathogenic 9 55 20 1 1 1
likely pathogenic 70 0 25 5 1 0
uncertain significance 11 4 0 2 1 0
likely benign 0 0 1 0 0 0
benign 1 0 3 5 0 0

Submitter to submitter summary #

Total submitters: 89
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
OMIM 0 87 0 39 0 0 7 46
Baylor Genetics 0 84 0 24 0 0 9 33
Invitae 0 66 0 14 2 0 16 32
Illumina Clinical Services Laboratory,Illumina 0 10 0 7 2 0 12 21
GeneReviews 0 15 9 9 0 0 2 20
Counsyl 0 19 0 12 1 0 6 19
Fulgent Genetics,Fulgent Genetics 0 10 0 10 0 0 1 11
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 0 21 0 10 0 0 0 10
Integrated Genetics/Laboratory Corporation of America 0 23 0 7 1 0 1 9
Natera, Inc. 0 16 0 5 0 0 2 7
Mendelics 0 9 0 4 1 0 2 7
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 3 0 3 0 0 4 7
Genetic Services Laboratory, University of Chicago 0 16 0 5 0 1 0 6
Centogene AG - the Rare Disease Company 0 26 0 4 0 0 0 4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 4 0 0 0 4
SIB Swiss Institute of Bioinformatics 0 5 0 2 0 0 2 4
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 4 0 1 0 0 3 4
Broad Institute Rare Disease Group, Broad Institute 0 5 0 0 0 0 3 3
Myriad Women's Health, Inc. 0 9 0 3 0 0 0 3
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 4 0 0 0 0 2 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 1 0 1 0 0 1 2
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 6 0 1 0 0 1 2
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 0 2 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 0 7 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 2 0 2 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 4 0 2 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 0 1 0 0 1 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 13 0 1 0 0 1 2
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 0 1 0 2 0 0 0 2
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 3 0 2 0 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 1 0 2 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 0 0 0 2 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 0 2 0 0 0 2
Reproductive Health Research and Development,BGI Genomics 0 3 0 2 0 0 0 2
Brunham Lab, Centre for Heart and Lung Innovation,University of British Columbia 0 0 0 2 0 0 0 2
Nilou-Genome Lab 0 1 0 1 0 0 1 2
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 1 0 0 0 0 1 1
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 1 0 0 0 0 1 1
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 2 0 0 0 0 1 1
Institute for Human Genetics,University Clinic Freiburg 0 1 0 0 0 0 1 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 8 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 4 0 1 0 0 0 1
GeneDx 0 5 0 0 0 0 1 1
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 1 0 1 0 0 0 1
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 0 0 0 1 0 0 0 1
Elsea Laboratory,Baylor College of Medicine 0 3 0 0 0 0 1 1
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 1 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 3 0 0 0 0 1 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 1 0 0 0 1
Pathway Genomics 0 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 0 0 1 0 0 0 1
Centre for Translational Omics - GOSgene,University College London 0 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 5 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1 1
Hadassah Hebrew University Medical Center 0 1 0 1 0 0 0 1
UW Hindbrain Malformation Research Program,University of Washington 0 6 0 1 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 0 0 1 0 0 0 1
Center for Human Genetics,University of Leuven 0 0 0 1 0 0 0 1
Cardiovascular Biomarker Research Laboratory,Mayo Clinic 0 1 0 1 0 0 0 1
Neurogenetics Laboratory,GH Pitie Salpetriere APHP 0 0 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 1 0 0 0 1
Hereditary Research Laboratory, Bethlehem University 0 2 0 1 0 0 0 1
Color Health, Inc 0 1 0 1 0 0 0 1
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 1 0 1 0 0 0 1
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 0 0 1 0 0 0 1
Human Genetics - Radboudumc,Radboudumc 0 0 0 1 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 0 0 0 0 1 1
Research and Development, ARUP Laboratories 0 2 0 1 0 0 0 1
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 0 0 0 1 0 0 0 1
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 0 0 1 0 0 0 1
Bruce Lefroy Centre, Murdoch Childrens Research Institute 0 0 0 1 0 0 0 1
FAHD UNIT, Department of Genetics,King Faisal Specialist Hospital and Research Centre 0 0 0 0 0 0 1 1
Iberoamerican FH Network 0 0 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 3 0 1 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 0 0 0 0 1 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 1 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 0 1 0 0 0 1
Kids Research, The Children's Hospital at Westmead 0 0 0 1 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 0 0 1 0 0 0 1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 0 0 0 0 0 0 1 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 3 0 1 0 0 0 1
Autoinflammatory diseases unit,CHU de Montpellier 0 0 0 1 0 0 0 1
Section for Clinical Neurogenetics,University of Tübingen 0 1 0 1 0 0 0 1
New York Genome Center 0 1 0 0 0 0 1 1
Molecular Biology Laboratory, Fundació Puigvert 0 0 0 1 0 0 0 1
Sydney Genome Diagnostics,Children's Hospital Westmead 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 194
Download table as spreadsheet
HGVS dbSNP
NM_000016.5(ACADM):c.616C>T (p.Arg206Cys) rs373715782
NM_000017.4(ACADS):c.136C>T (p.Arg46Trp) rs121908003
NM_000018.4(ACADVL):c.1246G>A (p.Ala416Thr) rs118204018
NM_000018.4(ACADVL):c.829_831del (p.Glu277del) rs796051913
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg) rs34116584
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met) rs1569540704
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166
NM_000046.5(ARSB):c.455G>A (p.Arg152Gln) rs776814144
NM_000047.2(ARSL):c.1743G>A (p.Trp581Ter) rs80338714
NM_000048.4(ASL):c.1060C>T (p.Gln354Ter) rs367543005
NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe) rs751710854
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val) rs775055397
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His) rs28897743
NM_000071.2(CBS):c.1006C>T (p.Arg336Cys) rs398123151
NM_000104.4(CYP1B1):c.182G>A rs28936700
NM_000142.5(FGFR3):c.1138G>A rs28931614
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175
NM_000152.5(GAA):c.-32-13T>G rs386834236
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr) rs144731405
NM_000152.5(GAA):c.1979G>A (p.Arg660His) rs374143224
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690
NM_000155.4(GALT):c.772C>T (p.Arg258Cys) rs368166217
NM_000159.4(GCDH):c.1167G>A (p.Leu389=) rs398123191
NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp) rs774393243
NM_000196.4(HSD11B2):c.622C>T (p.Arg208Cys) rs121917780
NM_000243.3(MEFV):c.2080A>G rs61752717
NM_000267.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp) rs796052019
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys) rs774738181
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs) rs606231189
NM_000291.4(PGK1):c.758T>C (p.Ile253Thr) rs137852534
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln) rs141498002
NM_000303.3(PMM2):c.43G>A (p.Gly15Arg) rs767831048
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000341.4(SLC3A1):c.1400T>A (p.Met467Lys) rs121912691
NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val) rs786205465
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) rs76645461
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868
NM_000405.5(GM2A):c.164C>T (p.Pro55Leu) rs730882196
NM_000426.3(LAMA2):c.1893_1897del (p.Asp631fs) rs746844753
NM_000436.4(OXCT1):c.1402C>T (p.Arg468Cys) rs1327401976
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs) rs397516413
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000466.3(PEX1):c.627G>A (p.Met209Ile) rs200752969
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter) rs6445
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys) rs566453434
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334
NM_000521.4(HEXB):c.1169+3_1169+10del rs398123444
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys) rs764552042
NM_000527.5(LDLR):c.1061-8T>C
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser) rs758194385
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu) rs121908028
NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu) rs753508874
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr) rs137854154
NM_000642.3(AGL):c.4353G>T (p.Trp1451Cys) rs775685508
NM_001032386.2(SUOX):c.520del (p.Asp174fs) rs1565798380
NM_001034850.2(RETREG1):c.926C>G (p.Ser309Ter) rs137852739
NM_001042646.3(TRAK1):c.1759dup (p.His587fs) rs1559390743
NM_001080522.2(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_001083116.3(PRF1):c.1262T>G (p.Phe421Cys) rs200534908
NM_001085458.2(CTNND1):c.2572C>T (p.Arg858Ter) rs1591672193
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001127713.1(ATL1):c.715C>T (p.Arg239Cys) rs119476046
NM_001128148.3(TFRC):c.58T>C (p.Tyr20His) rs863225436
NM_001139.3(ALOX12B):c.830T>A (p.Ile277Asn)
NM_001142279.2(RNASEH2B):c.356A>G (p.Asp119Gly) rs786205483
NM_001142800.2(EYS):c.2137+1G>A rs199740930
NM_001146289.1(P3H1):c.570_571del (p.Gly191fs) rs1553143741
NM_001163817.2(DHCR7):c.1A>G (p.Met1Val) rs104886033
NM_001190737.2(NFIB):c.265C>T (p.Arg89Ter) rs764333096
NM_001195518.2(MICU1):c.547C>T (p.Gln183Ter) rs777327250
NM_001271620.2(ZNF423):c.3070G>A (p.Val1024Ile) rs759221881
NM_001278716.2(FBXL4):c.219T>A (p.Tyr73Ter) rs747536886
NM_001303052.2(MYT1L):c.1585G>A (p.Gly529Arg) rs1275489527
NM_001323289.2(CDKL5):c.291C>T (p.Leu97=) rs138125282
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001369.2(DNAH5):c.5503C>T (p.Gln1835Ter) rs761622153
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001374736.1(DST):c.4929+3866C>T rs201045495
NM_001383.4(DPH1):c.701T>C (p.Leu234Pro) rs730882250
NM_001845.6(COL4A1):c.2245G>A (p.Gly749Ser) rs113994109
NM_001904.4(CTNNB1):c.1981C>T (p.Arg661Ter) rs748294403
NM_002187.2(IL12B):c.320dup (p.Glu108fs) rs587776807
NM_002474.3(MYH11):c.5676G>C (p.Glu1892Asp) rs113964173
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329
NM_003042.4(SLC6A1):c.863C>T (p.Ala288Val) rs794726860
NM_003193.4(TBCE):c.155_166delGCCACGAAGGGA (p.Ser52_Gly55del) rs767004810
NM_003235.5(TG):c.6725G>A (p.Arg2242His) rs2069566
NM_003359.4(UGDH):c.950G>A (p.Arg317Gln) rs775162839
NM_003394.4(WNT10B):c.338-1G>C rs1163162816
NM_003482.4(KMT2D):c.16480ATC[3] (p.Ile5497del) rs587783704
NM_003721.4(RFXANK):c.188-11C>T rs201545133
NM_003721.4(RFXANK):c.271+1G>C rs759667201
NM_003721.4(RFXANK):c.362A>T (p.Asp121Val) rs104894709
NM_003721.4(RFXANK):c.713-1G>A
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys) rs72549395
NM_003764.4(STX11):c.173T>C (p.Leu58Pro) rs431905512
NM_003829.4(MPDZ):c.5278G>A (p.Ala1760Thr) rs1554644827
NM_004204.4(PIGQ):c.619C>T (p.Arg207Ter) rs730882240
NM_004628.4(XPC):c.1872+1G>C rs1559374923
NM_004646.3(NPHS1):c.3250dup (p.Val1084fs) rs386833935
NM_004826.4(ECEL1):c.1210C>T (p.Arg404Cys) rs532757890
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro) rs139632595
NM_005105.5(RBM8A):c.-21G>A rs139428292
NM_005138.3(SCO2):c.2T>C (p.Met1Thr) rs1603441682
NM_005476.7(GNE):c.796C>T (p.Arg266Trp) rs121908621
NM_005603.6(ATP8B1):c.923G>T (p.Gly308Val) rs111033609
NM_005912.3(MC4R):c.485C>T (p.Thr162Ile) rs1555691402
NM_005956.4(MTHFD1):c.517C>T (p.Arg173Cys) rs141210410
NM_006009.4(TUBA1A):c.5G>A (p.Arg2His) rs587784491
NM_006009.4(TUBA1A):c.958C>T (p.Arg320Cys)
NM_006031.6(PCNT):c.658G>T (p.Glu220Ter) rs119479061
NM_006096.4(NDRG1):c.944-1G>T rs1588216753
NM_006397.2(RNASEH2A):c.557G>A (p.Arg186Gln) rs753679297
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter) rs546989392
NM_006567.5(FARS2):c.431A>G (p.Tyr144Cys) rs397514610
NM_006766.5(KAT6A):c.2218del (p.Arg740fs) rs1587723169
NM_006892.4(DNMT3B):c.1337T>C (p.Phe446Ser) rs150736372
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu) rs80338795
NM_012479.4(YWHAG):c.394C>T (p.Arg132Cys) rs1554616628
NM_014297.5(ETHE1):c.592dup (p.His198fs) rs1555762070
NM_014362.4(HIBCH):c.410C>T (p.Ala137Val) rs1114167288
NM_014625.4(NPHS2):c.868G>A (p.Val290Met) rs200482683
NM_014946.4(SPAST):c.1496G>A rs878854991
NM_015474.4(SAMHD1):c.646_647del (p.Met216fs) rs768019897
NM_015506.3(MMACHC):c.364C>A (p.His122Asn) rs372918203
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys) rs121918549
NM_016219.5(MAN1B1):c.403G>A (p.Val135Ile) rs75442795
NM_016327.3(UPB1):c.105-2A>G rs138081800
NM_016938.5(EFEMP2):c.506G>A (p.Arg169His) rs141310608
NM_017414.4(USP18):c.1073+1G>A rs1602534094
NM_017882.2(CLN6):c.316dupC (p.Arg106Profs) rs397515352
NM_017890.4(VPS13B):c.1219C>T (p.Gln407Ter) rs386834070
NM_017890.4(VPS13B):c.7783G>A (p.Asp2595Asn) rs140179844
NM_017950.4(CCDC40):c.961C>T (p.Arg321Ter) rs754867753
NM_018136.5(ASPM):c.1959_1962del (p.Asn653fs) rs199422147
NM_018136.5(ASPM):c.4363G>T (p.Glu1455Ter) rs1057520873
NM_018136.5(ASPM):c.6189T>G (p.Tyr2063Ter) rs137852997
NM_018136.5(ASPM):c.8017C>T (p.Gln2673Ter) rs587783275
NM_018941.3(CLN8):c.374A>G (p.Asn125Ser) rs142269885
NM_018941.3(CLN8):c.806A>T (p.Glu269Val) rs139003032
NM_019066.5(MAGEL2):c.1621C>T (p.Gln541Ter) rs1555374290
NM_019892.6(INPP5E):c.1388C>T (p.Ala463Val) rs199956627
NM_020041.3(SLC2A9):c.1138C>T (p.Arg380Trp) rs121908321
NM_020451.3(SELENON):c.550G>C (p.Ala184Pro) rs199742668
NM_020533.3(MCOLN1):c.1336G>A (p.Val446Met) rs754097561
NM_020751.3(COG6):c.1167-24A>G rs730882236
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp) rs765513105
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260
NM_023067.4(FOXL2):c.313_315del (p.Asn105del) rs1057516154
NM_023073.3(CPLANE1):c.1839A>C (p.Lys613Asn) rs533310477
NM_024120.5(NDUFAF5):c.821T>A (p.Leu274Gln) rs1040187200
NM_024596.5(MCPH1):c.1869_1870del (p.Ser623_Cys624insTer) rs587783735
NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp) rs398122978
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832
NM_030653.4(DDX11):c.2576T>G (p.Val859Gly) rs1565941025
NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg) rs80358230
NM_031307.4(PUS3):c.1303C>T (p.Arg435Ter) rs774005569
NM_032409.3(PINK1):c.774C>A (p.Tyr258Ter) rs756783990
NM_032504.1(UNC80):c.1078C>T (p.Arg360Ter) rs200659479
NM_032608.7(MYO18B):c.6905C>A (p.Ser2302Ter) rs556752387
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter) rs387907236
NM_033419.5(PGAP3):c.850C>T (p.His284Tyr) rs759541820
NM_054012.4(ASS1):c.380G>T (p.Arg127Leu) rs201623252
NM_058172.6(ANTXR2):c.134T>C (p.Leu45Pro) rs886041401
NM_133497.4(KCNV2):c.427G>T (p.Glu143Ter) rs104894113
NM_138422.4(ADAT3):c.430G>A (p.Val144Met) rs730882213
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His) rs745770404
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019
NM_144508.5(KNL1):c.2815A>T (p.Met939Leu) rs145740834
NM_144773.3(PROKR2):c.253C>G (p.Arg85Gly) rs141090506
NM_144773.3(PROKR2):c.254G>A (p.Arg85His) rs74315418
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_152268.4(PARS2):c.283G>A (p.Val95Ile) rs147227819
NM_153218.4(LACC1):c.850T>C (p.Cys284Arg) rs730880295
NM_153603.4(COG7):c.1717C>T (p.Arg573Trp) rs548129734
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668
NM_173483.4(CYP4F22):c.177C>G (p.Phe59Leu) rs118091316
NM_173483.4(CYP4F22):c.712G>A (p.Ala238Thr) rs572278771
NM_177400.3(NKX6-2):c.196del (p.Arg66fs) rs1554961118
NM_177550.4(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569
NM_181798.1(KCNQ1):c.151G>A (p.Ala51Thr) rs120074177
NM_181798.1(KCNQ1):c.496C>T (p.Arg166Cys) rs199472737
NM_182894.3(VSX2):c.599G>C (p.Arg200Pro) rs121912543
NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys) rs753966933
NM_194248.3(OTOF):c.5375G>A (p.Arg1792His) rs111033349
NM_201631.4(TGM5):c.1335G>C (p.Lys445Asn) rs606231276
NM_213653.3(HJV):c.497A>G (p.His166Arg) rs1553769663

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