ClinVar Miner

Variants studied for Primary ciliary dyskinesia

Coded as:
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Gene type:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
2421 844 8943 12223 2384 2 25070

Gene and significance breakdown #

Total genes and gene combinations: 102
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DNAH5 675 361 1764 3377 304 0 5808
DNAH11 376 113 1467 3050 1204 0 5581
DNAH8 118 32 796 893 147 1 1985
RPGR 367 21 462 347 81 0 1244
DNAI1 106 82 306 541 27 0 1001
CCDC40 73 22 433 384 78 0 946
DNAI2 89 54 269 467 38 0 848
CCDC39 118 26 201 333 27 0 680
DNAAF1 44 5 322 238 54 0 630
DNAAF5 29 7 249 299 36 0 596
ODAD1 20 10 274 234 46 0 562
DNAAF2 28 2 271 200 25 0 505
DNAAF3 32 11 230 203 27 0 484
DRC1 24 4 167 208 29 0 432
RSPH4A 38 11 189 104 20 0 348
ODAD2 5 2 198 69 19 0 293
ZMYND10 19 5 86 107 12 0 229
DNAH11, LOC126859961 16 3 52 95 58 0 201
OFD1 12 4 99 73 15 0 201
RSPH9 12 6 89 70 7 0 180
CCNO 17 4 68 82 8 0 179
RSPH1 17 6 64 75 18 0 178
CCDC39, TTC14 18 2 55 87 11 0 169
SPAG1 4 4 102 41 13 0 163
NME8 0 0 104 40 16 0 160
MCIDAS 8 5 40 99 8 0 159
DNAAF19 17 5 57 77 3 0 153
CDCA7L, DNAH11 36 3 42 54 9 0 138
DNAAF11 10 3 79 25 12 0 128
DNAAF5, PRKAR1B 10 1 59 46 0 0 114
DNAH8, LOC126859667 3 0 33 43 1 0 80
DNAAF2, LOC130055542 9 0 36 27 2 1 74
DNAH5, LOC107457585 7 1 28 41 3 0 74
DNAAF5, LOC129997730, PRKAR1B 3 0 34 29 1 0 66
DNAH5, LOC126807318 2 2 18 41 3 0 60
LOC126653391, RSPH1 2 0 10 30 1 0 43
LOC130000832, SPAG1 1 0 23 10 2 0 36
DNAH1 1 4 24 0 0 0 29
DNAAF5, LOC129997731, PRKAR1B 2 0 13 14 0 0 27
LOC126860891, ODAD2 0 0 16 9 1 0 26
DNAH11, LOC126859962 3 0 2 14 7 0 24
CCNO, LOC129993895 8 2 6 8 0 0 22
DNAAF3, LOC130065090 3 1 11 6 2 0 21
LOC129997052, RSPH4A 2 1 13 5 1 0 21
LOC132089773, ODAD2 0 0 12 2 2 0 16
LOC129993892, MCIDAS 1 0 6 7 0 0 14
LOC130068098, RPGR 5 0 2 5 2 0 14
DNAAF2, LOC130055541 1 0 6 4 1 0 12
DNAAF4, DNAAF4-CCPG1 8 2 3 0 0 0 12
DNAH8, LOC126859668 0 1 6 3 1 0 11
DNAH9 0 1 8 0 0 0 9
DAW1 5 0 0 0 0 0 5
LOC126863212, OFD1 0 0 4 1 0 0 5
OTC, RPGR 2 0 3 0 0 0 5
ODAD3 0 1 3 0 0 0 4
DNAAF1, TAF1C 3 0 0 0 0 0 3
DNAAF3, TNNI3 0 0 2 0 1 0 3
DNAL1 1 2 0 0 0 0 3
DRC2 0 1 2 0 0 0 3
LOC129997051, RSPH4A 0 0 3 0 0 0 3
LOC130066749, RSPH1 2 0 0 1 0 0 3
AGPAT3, CBS, CRYAA, CSTB, GATD3, HSF2BP, NDUFV3, PDE9A, PDXK, PKNOX1, PWP2, RRP1, RRP1B, RSPH1, SIK1, SLC37A1, TRAPPC10, U2AF1, WDR4 1 0 1 0 0 0 2
CCDC40, MIR1268B 0 0 2 0 0 0 2
CFAP221 0 2 0 0 0 0 2
DNAAF5, LOC129997732, PRKAR1B 0 0 0 2 0 0 2
HYDIN 2 0 0 0 0 0 2
RSPH3 0 0 2 0 0 0 2
SPEF2 1 1 0 0 0 0 2
ABCG1, ADARB1, AGPAT3, AIRE, C21orf58, C2CD2, CBS, CFAP410, COL18A1, COL6A1, COL6A2, CRYAA, CSTB, DNMT3L, FTCD, GATD3, HSF2BP, ICOSLG, ITGB2, KRTAP10-1, KRTAP10-10, KRTAP10-11, KRTAP10-12, KRTAP10-2, KRTAP10-3, KRTAP10-4, KRTAP10-5, KRTAP10-6, KRTAP10-7, KRTAP10-8, KRTAP10-9, KRTAP12-1, KRTAP12-2, KRTAP12-3, KRTAP12-4, LINC00163, LINC00315, LINC00334, LRRC3, LSS, MCM3AP, NDUFV3, PCBP3, PCNT, PDE9A, PDXK, PFKL, PKNOX1, POFUT2, PRDM15, PTTG1IP, PWP2, RIPK4, RRP1, RRP1B, RSPH1, SIK1, SLC19A1, SLC37A1, SLX9, SPATC1L, SUMO3, TFF1, TFF2, TFF3, TMPRSS3, TRAPPC10, TRPM2, TSPEAR, U2AF1, UBASH3A, UBE2G2, UMODL1, WDR4, YBEY, ZBTB21 0 0 1 0 0 0 1
AK7 0 0 1 0 0 0 1
ANKRD18B, APTX, AQP3, AQP7, ARHGEF39, ARID3C, ATOSB, B4GALT1, BAG1, CA9, CCDC107, CCIN, CCL19, CCL21, CCL27, CD72, CHMP5, CIMIP2B, CLTA, CNTFR, CREB3, DCAF12, DCTN3, DNAI1, DNAJA1, DNAJB5, ENHO, EXOSC3, FAM219A, FAM221B, FANCG, FBXO10, FRMPD1, GALT, GBA2, GLIPR2, GNE, GRHPR, HINT2, HRCT1, IL11RA, KIF24, MELK, MSMP, MYORG, NDUFB6, NFX1, NOL6, NPR2, NUDT2, OR13J1, OR2S2, PAX5, PHF24, PIGO, POLR1E, PRSS3, RECK, RGP1, RIGI, RMRP, RNF38, RPP25L, RUSC2, SIGMAR1, SIT1, SMU1, SPAG8, SPATA31F1, SPATA31G1, SPINK4, SPMIP6, STOML2, TAF1L, TESK1, TLN1, TMEM215, TMEM8B, TOMM5, TOPORS, TPM2, TRMT10B, UBAP1, UBAP2, UBE2R2, UNC13B, VCP, ZBTB5, ZCCHC7 0 0 1 0 0 0 1
CACNA2D2, CAMKV, CYB561D2, GNAI2, GNAT1, HYAL1, HYAL2, HYAL3, IFRD2, LSMEM2, MON1A, MST1R, NAA80, NPRL2, RASSF1, RBM5, RBM6, SEMA3B, SEMA3F, SLC38A3, TMEM115, TRAIP, TUSC2, ZMYND10 0 0 1 0 0 0 1
CBS, CRYAA, ERVH48-1, FRGCA, LINC01668, LINC01671, LOC101928212, LOC110121500, LOC125418078, LOC125418079, LOC126653391, LOC126653392, LOC129391248, LOC130066747, LOC130066748, LOC130066749, LOC130066750, LOC130066751, LOC130066752, LOC130066753, LOC130066754, LOC130066755, LOC130066756, LOC130066757, LOC130066758, LOC130066759, LOC130066760, LOC130066761, LOC130066762, LOC130066763, LOC130066764, LOC130066765, LOC130066766, LOC130066767, LOC130066768, LOC130066769, LOC130066770, MIR5692B, NDUFV3, PDE9A, PKNOX1, RSPH1, RSPH1-DT, SLC37A1, U2AF1, WDR4 0 0 1 0 0 0 1
CCDC39, LOC129937993, LOC129937994 0 1 0 0 0 0 1
CCDC40, GAA 0 0 1 0 0 0 1
CDCA7L, DNAH11, HYCC1, IL6, KLHL7, KLHL7-DT, RAPGEF5, SP4, STEAP1B, TOMM7 0 0 1 0 0 0 1
CDCA7L, DNAH11, HYCC1, IL6, RAPGEF5, SP4, STEAP1B, TOMM7 1 0 0 0 0 0 1
CFAP20DC 0 0 1 0 0 0 1
CFAP221, LOC129934669 0 1 0 0 0 0 1
CFAP300 1 0 0 0 0 0 1
CFAP57, LOC105378685 0 1 0 0 0 0 1
CLDN2, DNAAF6, MORC4, NRK, NUP62CL, PWWP3B, RADX, RBM41, RIPPLY1, RNF128, SERPINA7, TBC1D8B 0 1 0 0 0 0 1
CYBB, DYNLT3, H2AP, OTC, RPGR, SRPX, SYTL5, XK 1 0 0 0 0 0 1
CYBB, DYNLT3, H2AP, RPGR, SRPX, SYTL5, XK 0 0 1 0 0 0 1
DNAAF1, HSDL1, MBTPS1, MLYCD, NECAB2, OSGIN1, SLC38A8, TAF1C 0 0 1 0 0 0 1
DNAAF19, FAM187A 0 0 0 1 1 0 1
DNAAF2, LRR1, MGAT2, POLE2, RN7SL1, RPL36AL, RPS29 0 0 1 0 0 0 1
DNAAF3, LOC130065090, TNNI3 0 0 0 1 0 0 1
DNAAF3, TNNI3, TNNT1 1 0 0 0 0 0 1
DNAAF6 0 1 0 0 0 0 1
DNAH5, TRIO 0 0 1 0 0 0 1
DNAH9, LOC126862505 0 0 1 0 0 0 1
DNAJB13 0 0 1 0 0 0 1
DRC1, LOC129933333 0 0 1 0 0 0 1
DRC4 0 0 1 0 0 0 1
FAM162B, GPRC6A, KPNA5, RFX6, RSPH4A, ZUP1 0 0 1 0 0 0 1
GAS2L2 0 1 0 0 0 0 1
KIAA0586 0 1 0 0 0 0 1
LOC130000832, SPAG1, VPS13B 0 0 0 1 0 0 1
NEK10 1 0 0 0 0 0 1
ODAD4 0 1 0 0 0 0 1
RAG1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 2302 434 4815 11341 2207 0 21099
Ambry Genetics 185 54 4241 1716 518 0 6714
Natera, Inc. 97 271 953 102 103 0 1526
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 11 32 146 4 0 0 193
Yale Center for Mendelian Genomics, Yale University 0 72 0 0 0 0 72
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 16 16 0 0 0 0 32
Department of Genetics, Sultan Qaboos University Hospital 14 7 5 0 0 0 26
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 16 3 3 0 0 0 22
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 20 0 0 0 0 0 20
Centre for Genomic and Experimental Medicine, University of Edinburgh 9 2 0 0 0 0 11
Department of Pathology and Laboratory Medicine, Sinai Health System 1 4 1 0 0 0 6
Dubai Health Genomic Medicine Center, Dubai Health 4 2 0 0 0 0 6
Clinical Genetics Laboratory, Skane University Hospital Lund 0 2 3 0 0 0 5
Molecular Genetics, Royal Melbourne Hospital 2 2 1 0 0 0 5
New Leaf Center 5 0 0 0 0 0 5
Genetics and Molecular Pathology, SA Pathology 0 0 4 0 0 0 4
Fulgent Genetics, Fulgent Genetics 0 0 3 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 0 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Sezerman Lab, Dept of Biostatistics and Bioinformatics, Acibadem Mehmet Ali Aydinlar University 2 0 0 0 0 0 2
The Research Institute of Tuberculosis, Japan Anti-Tuberculosis Association 0 2 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Illumina Laboratory Services, Illumina 0 1 0 0 0 0 1
Institute of Reproductive and Stem Cell Engineering, Central South University 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 1 0 0 0 0 1
Molecular and Clinical Genetics, Institute of Human Genetics P.A.S. 1 0 0 0 0 0 1
NHS Central & South Genomic Laboratory Hub 0 1 0 0 0 0 1
OMIM 0 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1

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