ClinVar Miner

Variants studied for Joubert syndrome 1

Included ClinVar conditions (11):
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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 total
1461 411 4081 5604 473 11924

Gene and significance breakdown #

Total genes and gene combinations: 74
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CEP290 505 76 851 1466 88 2977
CC2D2A 176 50 528 876 41 1666
RPGRIP1L 206 58 516 767 44 1550
AHI1 150 36 427 580 53 1244
TMEM67 101 47 299 418 26 888
MKS1 88 34 221 415 16 770
INPP5E 50 20 328 246 43 657
OFD1 34 8 263 203 83 591
TCTN2 33 16 217 190 24 479
TCTN1 20 12 140 141 14 327
TMEM216 20 13 55 115 10 213
B9D1 5 2 62 65 6 139
CEP290, RLIG1 20 0 35 30 1 86
LOC130061271, MKS1 7 0 20 21 0 48
B9D2 4 1 15 12 8 39
CEP290, LOC129390514 2 2 11 19 1 35
LOC126863212, OFD1 2 0 19 7 2 30
CPLANE1 6 8 5 2 0 21
B9D1, LOC130060455 0 0 10 7 1 18
CEP41 0 0 9 3 1 13
TTC21B 0 0 9 1 3 13
ARMC9 0 10 0 0 0 10
TOGARAM1 8 8 1 0 0 9
AHI1, LOC128669075 0 0 0 8 0 8
TMEM237 1 1 4 1 1 8
CYB561A3, TMEM138 0 0 6 1 0 7
ARL13B 0 1 1 1 2 5
LOC130008755, TCTN1 0 0 0 4 1 5
KIAA0753 3 1 0 0 0 4
TMEM138 0 0 4 0 0 4
ATP6V0A2, TCTN2 0 0 1 0 2 3
C2CD3 3 0 0 0 0 3
NPHP1 0 0 2 0 1 3
PIBF1 0 2 2 0 0 3
TMEM218 3 0 0 0 0 3
ATP6V0A2, LOC130009117, TCTN2 0 0 0 2 0 2
B9D2, TGFB1 0 0 1 0 1 2
CBY1 2 0 0 0 0 2
CLUAP1 0 2 0 0 0 2
OFD1, TRAPPC2 0 0 2 0 0 2
USH2A 0 0 2 0 0 2
ABCA2, AGPAT2, AJM1, ANAPC2, ARRDC1, C8G, C9orf163, CACNA1B, CAMSAP1, CARD9, CCDC183, CIMIP2A, CLIC3, CYSRT1, DIPK1B, DNLZ, DPH7, DPP7, EDF1, EGFL7, EHMT1, ENTPD2, ENTPD8, ENTR1, EXD3, FBXW5, FUT7, GLT6D1, GPSM1, GRIN1, INPP5E, KCNT1, LCN1, LCN10, LCN12, LCN15, LCN6, LCN8, LCN9, LCNL1, LHX3, LINC02908, LOC651337, LRRC26, MAMDC4, MAN1B1, MIR126, MRPL41, MRPS2, NACC2, NDOR1, NELFB, NOTCH1, NOXA1, NPDC1, NRARP, NSMF, OBP2A, PAEP, PAXX, PHPT1, PMPCA, PNPLA7, PTGDS, QSOX2, RABL6, RNF208, RNF224, SAPCD2, SEC16A, SLC34A3, SNAPC4, SNHG7, SOHLH1, SSNA1, STPG3, TMEM141, TMEM203, TMEM210, TMEM250, TOR4A, TPRN, TRAF2, TUBB4B, UAP1L1, UBAC1, ZMYND19 1 0 0 0 0 1
AGPAT2, C9orf163, EGFL7, ENTR1, INPP5E, MIR126, NOTCH1, PMPCA, SEC16A 0 0 1 0 0 1
AHI1, LOC129389653, LOC129997223 1 0 0 0 0 1
AKAP1, APPBP2, BCAS3, BRIP1, C17orf47, C17orf67, CA4, CHCT1, CLTC, COIL, CUEDC1, DGKE, DHX40, DYNLL2, DYNLL2-DT, EPX, GDPD1, HEATR6, HSF5, LINC02875, LPO, MIR21, MKS1, MPO, MRPS23, MSI2, MTMR4, NACA2, NOG, OR4D1, OR4D2, PPM1D, PPM1E, PRR11, PTRH2, RAD51C, RNF43, RNFT1, RPS6KB1, SCPEP1, SEPTIN4, SKA2, SMG8, SRSF1, SUPT4H1, TBX2, TBX4, TEX14, TRIM25, TRIM37, TSPOAP1, TUBD1, USP32, VEZF1, VMP1, YPEL2 0 0 1 0 0 1
ALDH3A2, ALKBH5, ATPAF2, B9D1, COPS3, DRC3, DRG2, EPN2, EVPLL, FAM83G, FBXW10, FLCN, FLII, GID4, GRAP, GRAPL, LGALS9C, LLGL1, MAPK7, MED9, MFAP4, MIEF2, MIR33B, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RASD1, RNF112, SHMT1, SLC47A1, SLC5A10, SMCR8, SNORD3A, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRIM16L, TVP23B 0 0 1 0 0 1
ATXN3L, EGFL6, FAM9C, OFD1, RAB9A, TCEANC, TLR7, TLR8, TMSB4X, TRAPPC2 1 0 0 0 0 1
BST1, CC2D2A, CD38, FAM200B, FBXL5, FGFBP1, FGFBP2, PROM1, TAPT1 0 0 1 0 0 1
C12orf50, CEP290, KITLG, RLIG1, TMTC3 1 0 0 0 0 1
CEP290, LOC129390514, LOC130008346, RLIG1 1 0 0 0 0 1
CPLANE1, LOC129993816 0 0 0 1 0 1
CPSF7, SDHAF2, TMEM216 0 0 1 0 0 1
EIF2B1, GTF2H3, TCTN2 0 0 1 0 0 1
EXOC8 0 0 1 0 0 1
FAM149B1 0 1 0 0 0 1
FTO, IRX3, IRX5, IRX6, MMP2, RPGRIP1L 1 0 0 0 0 1
FTO, IRX3, IRX5, RPGRIP1L 0 0 1 0 0 1
FTO, RPGRIP1L 0 0 0 1 0 1
IFT172 1 0 0 0 0 1
INPP5E, SEC16A 0 0 1 0 0 1
KATNIP 0 1 0 0 0 1
KIAA0586 1 0 0 0 0 1
KIF7 0 0 1 0 0 1
LOC126863212, LOC130067975, LOC130067976, OFD1 1 0 0 0 0 1
LOC129935417, TMEM237 0 0 1 0 0 1
LRRC34 0 0 1 0 0 1
MICALL2 1 0 0 0 0 1
PDP1, TMEM67 1 0 0 0 0 1
PDPR 0 0 0 1 0 1
RCOR1 0 1 0 0 0 1
SLC30A7 1 0 0 0 0 1
TMEM17 0 0 1 0 0 1
TMEM231 0 0 1 0 0 1
WDPCP 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 1394 358 3910 5574 457 11692
Natera, Inc. 9 5 177 15 15 221
Illumina Laboratory Services, Illumina 0 0 115 22 27 164
UW Hindbrain Malformation Research Program, University of Washington 53 4 0 0 0 57
Mendelics 14 8 6 3 15 46
University of Washington Center for Mendelian Genomics, University of Washington 0 18 1 0 0 19
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 3 5 0 0 10
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 5 0 0 0 8
OMIM 4 0 2 0 0 6
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 2 3 1 0 6
Genome-Nilou Lab 0 0 0 0 6 6
Baylor Genetics 0 0 5 0 0 5
Fulgent Genetics, Fulgent Genetics 0 0 2 2 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 2 1 0 4
Rare Disease Group, Clinical Genetics, Karolinska Institutet 3 1 0 0 0 4
Institute of Human Genetics, University Hospital of Duesseldorf 1 2 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 3 0 0 3
Molecular and Clinical Genetics, Institute of Human Genetics P.A.S. 3 0 0 0 0 3
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 2 0 0 0 2
GeneReviews 2 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 0 2
Department of Medical Genetics, Oslo University Hospital 2 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 0 0 0 2
Universitätsklinikum Salzburg, Universitätskinderklinik 1 1 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 2
Reproductive Health Research and Development, BGI Genomics 1 0 1 0 0 2
Department of Neurology, Linyi People’s Hospital, The Eleventh Clinical Medical College of Qingdao University 2 0 0 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 2 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 0 0 1
Prenatal Diagnosis Center, The Sixth Medical Center of PLA General Hospital 1 0 0 0 0 1
DASA 1 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 1 0 0 0 1

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