ClinVar Miner

Variants studied for Meckel syndrome

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
1279 527 3751 4659 344 2 10128

Gene and significance breakdown #

Total genes and gene combinations: 58
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CEP290 517 115 943 1478 90 2 3035
CC2D2A 190 83 620 878 52 0 1734
RPGRIP1L 209 78 568 772 49 0 1610
TMEM67 113 80 354 429 26 0 948
MKS1 85 78 290 417 18 0 826
TCTN2 28 20 260 194 26 0 508
TMEM231 31 7 157 126 16 0 335
TCTN1 21 12 140 140 14 0 327
NPHP3, NPHP3-ACAD11 16 12 150 40 4 0 221
B9D1 3 4 72 67 10 0 149
CEP290, RLIG1 20 6 38 30 1 0 88
TMEM216 5 14 39 4 7 0 66
LOC130061271, MKS1 9 3 27 22 1 0 56
B9D2 3 2 16 13 11 0 43
CEP290, LOC129390514 2 2 12 19 1 0 36
LOC129937586, NPHP3, NPHP3-ACAD11 0 0 20 4 0 0 24
B9D1, LOC130060455 0 0 13 7 2 0 21
LOC130059440, TMEM231 3 1 7 6 1 0 18
KIF14 2 1 6 2 3 0 14
ATP6V0A2, TCTN2 1 0 1 3 6 0 9
TXNDC15 6 2 1 0 0 0 7
LOC105371520, TMEM107 3 0 0 0 2 0 5
LOC130008755, TCTN1 0 0 0 4 1 0 5
LOC130059035, RPGRIP1L 0 0 3 0 0 0 3
ADAT1, GABARAPL2, KARS1, TERF2IP, TMEM231 1 0 1 0 0 0 2
ATP6V0A2, LOC130009117, TCTN2 0 0 0 2 0 0 2
B9D2, TGFB1 0 0 1 0 1 0 2
C12orf50, CEP290, RLIG1 2 0 0 0 0 0 2
LOC129937587, NPHP3, NPHP3-ACAD11 0 0 1 0 1 0 2
TMEM218 2 0 0 0 0 0 2
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 0 1
AKAP10, ALDH3A1, ALDH3A2, B9D1, EPN2, EPN2-IT1, FAM83G, GRAP, GRAPL, LINC02094, LOC102724624, LOC105371574, LOC121852925, LOC121852926, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862517, LOC130060435, LOC130060436, LOC130060437, LOC130060438, LOC130060439, LOC130060440, LOC130060441, LOC130060442, LOC130060443, LOC130060444, LOC130060445, LOC130060446, LOC130060447, LOC130060448, LOC130060449, LOC130060450, LOC130060451, LOC130060452, LOC130060453, LOC130060454, LOC130060455, LOC130060456, LOC130060457, LOC130060458, LOC130060459, LOC130060460, LOC130060461, LOC130060462, LOC130060463, LOC130060464, LOC130060465, LOC130060466, LOC130060467, LOC130060468, LOC130060469, LOC130060470, LOC130060471, LOC130060472, LOC130060473, LOC130060474, LOC130060475, LOC130060476, LOC130060477, LOC130060478, LOC130060479, LOC130060480, LOC130060481, LOC132090459, LOC388436, MAPK7, MFAP4, MIR1180, PRPSAP2, RNF112, SLC47A1, SLC47A2, SLC5A10, SNORA59B, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SPECC1, SPECC1-DT, TRG-CCC3-1, TRW-CCA2-1, ULK2 1 0 0 0 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 0 1
BST1, CC2D2A, CD38, FAM200B, FBXL5, FGFBP1, FGFBP2, PROM1, TAPT1 0 0 1 0 0 0 1
C12orf50, CEP290, KITLG, RLIG1, TMTC3 1 0 0 0 0 0 1
CCDC172 0 0 1 0 0 0 1
CEP290, LOC129390514, LOC130008346, RLIG1 1 0 0 0 0 0 1
CEP295 0 0 1 0 0 0 1
CHST5, CHST6, TMEM170A, TMEM231 1 0 0 0 0 0 1
CHST5, CHST6, TMEM231 1 0 0 0 0 0 1
CIMIP2B 0 0 1 0 0 0 1
CSPP1 0 1 0 0 0 0 1
DUOX2 0 0 0 1 0 0 1
EIF2B1, GTF2H3, TCTN2 0 0 1 0 0 0 1
EVC2 0 1 0 0 0 0 1
EXOC3L2 0 1 0 0 0 0 1
EXOC4, LOC101928861 0 1 0 0 0 0 1
FTO, IRX3, IRX5, IRX6, MMP2, RPGRIP1L 1 0 0 0 0 0 1
FTO, IRX3, IRX5, RPGRIP1L 0 0 1 0 0 0 1
FTO, RPGRIP1L 0 0 0 1 0 0 1
HOXB, HOXB6, LOC130061088 0 0 1 0 0 0 1
KIAA0586 0 1 0 0 0 0 1
PDP1, TMEM67 1 0 0 0 0 0 1
SNORD118, TMEM107 0 0 1 0 0 0 1
TGFB1 0 0 0 0 1 0 1
TMEM138 0 1 0 0 0 0 1
TMEM237 0 1 0 0 0 0 1
TTC6 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 57
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 1207 296 3031 4556 287 0 9377
Fulgent Genetics, Fulgent Genetics 87 76 428 148 2 0 741
Illumina Laboratory Services, Illumina 0 1 634 48 59 0 741
Natera, Inc. 5 2 84 11 7 0 109
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 82 0 0 0 0 83
Counsyl 1 31 33 5 0 0 70
Genome-Nilou Lab 0 0 14 0 54 0 68
OMIM 43 0 0 0 0 0 43
New York Genome Center 1 1 34 0 0 0 36
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 11 13 9 0 0 0 32
Baylor Genetics 9 2 18 0 0 0 29
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 16 9 0 0 0 0 25
Genetic Services Laboratory, University of Chicago 14 7 3 0 0 0 24
Myriad Genetics, Inc. 1 18 0 0 0 0 19
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 6 9 0 0 0 0 15
Neuberg Centre For Genomic Medicine, NCGM 4 1 5 0 0 0 10
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 6 0 0 0 0 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 6 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 5 0 6
3billion 2 1 3 0 0 0 6
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 2 2 2 0 0 0 6
Johns Hopkins Genomics, Johns Hopkins University 3 2 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 2 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 1 1 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 0 3 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 2 0 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 3 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 3 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 2 0 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 1 1 0 0 3
Suma Genomics 2 0 1 0 0 0 3
MGZ Medical Genetics Center 1 0 0 1 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 1 0 0 0 2
UW Hindbrain Malformation Research Program, University of Washington 2 0 0 0 0 0 2
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 2 0 0 0 0 2
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 2 0 0 0 0 0 2
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 2 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 1 0 0 0 2
Sydney Genome Diagnostics, Children's Hospital Westmead 2 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 1 0 0 0 2
MVZ Medizinische Genetik Mainz 0 0 2 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Blueprint Genetics 0 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 1
DASA 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.