ClinVar Miner

Variants studied for Primary ciliary dyskinesia

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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
2225 574 7563 11427 2363 1 22569

Gene and significance breakdown #

Total genes and gene combinations: 105
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DNAH11 352 101 1330 2945 1185 0 5251
DNAH5 649 195 1310 3310 300 0 5246
DNAH8 99 28 733 738 145 0 1742
RPGR 322 18 412 298 81 0 1101
DNAI1 102 48 222 532 26 0 877
CCDC40 63 19 373 342 74 0 829
DNAI2 85 28 198 454 39 0 764
CCDC39 113 26 176 314 27 0 629
DNAAF1 42 4 277 201 52 0 547
DNAAF5 25 7 210 258 35 0 514
ODAD1 18 6 230 200 45 0 477
DNAAF2 23 2 233 169 24 0 431
DNAAF3 29 8 200 180 14 0 415
DRC1 19 4 156 177 29 0 385
RSPH4A 35 9 167 91 19 0 308
ODAD2 4 0 158 55 19 0 236
ZMYND10 17 5 84 89 12 0 207
DNAH11, LOC126859961 15 3 45 89 56 0 185
RSPH1 17 5 64 67 18 0 169
CCDC39, TTC14 18 2 55 86 11 0 168
OFD1 9 4 80 58 15 0 164
CCNO 14 4 58 69 8 0 153
MCIDAS 8 3 39 89 8 0 146
RSPH9 11 5 72 54 7 0 146
DNAAF19 16 5 54 74 3 0 145
CDCA7L, DNAH11 29 4 49 59 10 0 139
SPAG1 2 4 78 36 13 0 132
NME8 0 0 79 34 16 0 129
DNAAF5, PRKAR1B 7 1 48 40 0 0 94
DNAAF11 7 2 45 22 12 0 85
DNAH8, LOC126859667 2 0 31 36 1 0 70
DNAH5, LOC107457585 5 0 19 41 3 0 63
DNAAF2, LOC130055542 8 0 26 21 2 1 58
DNAAF5, LOC129997730, PRKAR1B 3 0 27 27 1 0 57
DNAH5, LOC126807318 2 2 14 38 3 0 54
LOC126653391, RSPH1 2 0 10 27 1 0 40
DNAH1 1 4 24 0 0 0 29
DNAL1 1 1 22 3 2 0 29
LOC130000832, SPAG1 1 0 17 8 2 0 28
DNAH11, LOC126859962 3 0 4 14 7 0 24
DNAAF3, TNNI3 0 0 3 7 14 0 20
DNAAF5, LOC129997731, PRKAR1B 2 0 10 10 0 0 20
LOC126860891, ODAD2 0 0 9 9 1 0 19
LOC129997052, RSPH4A 2 1 12 4 1 0 19
CCNO, LOC129993895 7 2 6 4 0 0 17
DNAAF3, LOC130065090 3 1 9 4 1 0 16
LOC132089773, ODAD2 0 0 11 2 2 0 15
LOC129993892, MCIDAS 1 0 6 7 0 0 14
LOC130068098, RPGR 5 0 2 5 2 0 14
CCDC40, GAA 0 0 1 3 8 0 11
DNAAF4, DNAAF4-CCPG1 7 2 3 0 0 0 11
DNAH8, LOC126859668 0 0 6 3 1 0 10
DNAAF2, LOC130055541 1 0 4 3 1 0 9
DNAH9 0 1 8 0 0 0 9
DNAAF19, GFAP 0 0 0 7 0 0 7
DNAAF2, MGAT2 0 0 0 2 4 0 6
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
DNAAF1, LOC130059566 0 0 3 1 0 0 4
DNAAF1, TAF1C 3 0 1 0 0 0 4
LOC129997051, RSPH4A 0 0 4 0 0 0 4
ODAD3 0 1 3 0 0 0 4
CCDC40, GAA, LOC130061897 0 0 0 3 0 0 3
DRC2 0 1 2 0 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
DNAAF3, LOC130065090, TNNI3 0 0 0 2 1 0 2
DNAAF3, TNNI3, TNNT1 1 0 0 0 1 0 2
DNAI1, LOC113839546 0 0 1 1 0 0 2
HYDIN 2 0 0 0 0 0 2
LOC130066749, RSPH1 1 0 0 1 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
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
CFAP300 1 0 0 0 0 0 1
CFAP57 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
DNAAF19, FAM187A, GFAP 0 0 1 0 0 0 1
DNAAF2, LRR1, MGAT2, POLE2, RN7SL1, RPL36AL, RPS29 0 0 1 0 0 0 1
DNAAF5, LOC129997732, PRKAR1B 0 0 0 1 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
DNAL1, LOC132090265 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
LOC130000832, SPAG1, VPS13B 0 0 0 1 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: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 2139 409 4492 10609 2183 0 19832
Ambry Genetics 171 44 3153 1453 503 0 5324
Natera, Inc. 47 14 542 99 103 0 805
Illumina Laboratory Services, Illumina 0 1 249 79 42 0 371
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
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 16 3 3 0 0 0 22
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
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 4 2 0 0 0 0 6
New Leaf Center 5 0 0 0 0 0 5
Molecular Genetics, Royal Melbourne Hospital 2 2 1 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
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 2 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 0 0 0 0 0 2
Sezerman Lab, Dept of Biostatistics and Bioinformatics, Acibadem Mehmet Ali Aydinlar University 2 0 0 0 0 0 2
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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 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
Molecular and Clinical Genetics, Institute of Human Genetics P.A.S. 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

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