ClinVar Miner

Variants studied for Joubert syndrome

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
325 208 1062 1083 117 1 2782

Gene and significance breakdown #

Total genes and gene combinations: 45
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
AHI1 171 41 435 637 52 0 1336
INPP5E 56 18 283 293 40 0 689
RPGRIP1L 22 99 269 16 15 0 419
TMEM216 21 14 57 125 10 0 227
MKS1 12 3 0 0 0 0 15
ARMC9 0 10 0 0 0 0 10
AHI1, LOC128669075 0 0 0 9 0 0 9
TOGARAM1 8 8 3 0 0 0 9
TCTN2 8 0 0 0 0 0 8
CPLANE1 2 4 0 0 0 0 6
B9D2 3 1 0 0 0 0 4
C2CD3 3 0 1 0 0 0 4
ARL13B 0 1 2 0 0 0 3
B9D1 3 0 0 0 0 0 3
PIBF1 0 2 2 0 0 0 3
TMEM218 3 0 0 0 0 0 3
CBY1 2 0 0 0 0 0 2
CEP290 2 0 0 0 0 0 2
IFT38 0 2 0 0 0 0 2
KIAA0586 1 1 0 0 0 0 2
TMEM237 1 1 0 0 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 0 1
AGPAT2, C9orf163, EGFL7, ENTR1, INPP5E, MIR126, NOTCH1, PMPCA, SEC16A 0 0 1 0 0 0 1
AHI1, LOC129389653, LOC129997223 1 0 0 0 0 0 1
CARD9, ENTR1, INPP5E, PMPCA, SNAPC4 1 0 0 0 0 0 1
CC2D2A 1 0 0 0 0 0 1
CEP104 0 0 1 0 0 0 1
CEP41 0 0 0 1 0 0 1
CHD7 1 0 0 0 0 0 1
CPSF7, SDHAF2, TMEM216 0 0 1 0 0 0 1
EXOC8 0 0 1 0 0 0 1
FAM149B1 0 1 0 0 0 0 1
IFT172 1 0 0 0 0 0 1
IFT74 0 0 0 0 0 1 1
INPP5E, SEC16A 0 0 1 0 0 0 1
KATNIP 0 1 0 0 0 0 1
KIF7 0 0 1 0 0 0 1
LOC130061271, MKS1 1 0 0 0 0 0 1
LRRC34 0 0 1 0 0 0 1
PDPR 0 0 0 1 0 0 1
RCOR1 0 1 0 0 0 0 1
RLIM 0 0 0 1 0 0 1
TMEM17 0 0 1 0 0 0 1
TMEM231 0 0 1 0 0 0 1
WDPCP 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 249 74 777 1064 102 0 2266
Natera, Inc. 20 98 269 16 15 0 418
UW Hindbrain Malformation Research Program, University of Washington 53 4 0 0 0 0 57
University of Washington Center for Mendelian Genomics, University of Washington 0 18 1 0 0 0 19
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 7 0 0 0 0 10
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 3 1 0 0 6
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 1 0 2 1 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 2 1 0 0 4
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 2 0 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 0 0 2 0 0 0 2
Department of Medical Genetics, Oslo University Hospital 2 0 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 2
GeneReviews 2 0 0 0 0 0 2
OMIM 0 0 2 0 0 0 2
Reproductive Health Research and Development, BGI Genomics 1 0 1 0 0 0 2
Universitätsklinikum Salzburg, Universitätskinderklinik 1 1 0 0 0 0 2
Dasa 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 1 0 0 0 0 1
Prenatal Diagnosis Center, The Sixth Medical Center of PLA General Hospital 1 0 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 0 0 0 1

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