ClinVar Miner

Variants studied for inherited obesity

Included ClinVar conditions (54):
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 protective risk factor not provided total
75 50 422 62 48 2 11 1 637

Gene and significance breakdown #

Total genes and gene combinations: 73
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign protective risk factor not provided total
CAST, LOC101929710, PCSK1 12 7 87 7 4 0 0 0 117
LEPR 5 4 61 9 7 0 0 0 83
LEP 4 1 62 6 3 0 0 0 76
MC4R 19 18 46 3 5 2 0 1 73
SIM1 1 0 48 7 15 0 0 0 71
POMC 8 0 28 6 4 0 0 0 42
ENPP1 1 1 15 8 1 0 3 0 29
PPARG 0 1 12 6 2 0 0 0 20
UCP3 0 0 10 4 0 0 0 0 14
​intergenic 3 2 5 0 0 0 2 0 12
NR0B2, NUDC 1 2 9 0 0 0 0 0 12
LEPR, LEPROT 0 0 4 1 1 0 0 0 6
LEPR, LOC122094844 0 0 4 0 1 0 0 0 5
GHRL, GHRLOS 0 0 1 1 0 0 2 0 4
LOC108167315, POMC 1 0 3 0 1 0 0 0 4
LOC129933280, POMC 2 1 1 1 0 0 0 0 4
ADRB3 0 0 2 0 0 0 1 0 3
BDNF 0 1 1 0 1 0 0 0 3
CEP19 1 1 1 0 1 0 0 0 3
AGRP, ATP6V0D1-DT 1 0 1 0 1 0 0 0 2
PRMT7 2 0 0 0 0 0 0 0 2
ACRBP, ACSM4, ADIPOR2, AKAP3, ANO2, APOBEC1, ATN1, B4GALNT3, C12orf57, C1R, C1RL, C1S, C3AR1, CACNA1C, CACNA2D4, CCDC77, CCND2, CD163, CD163L1, CD27, CD4, CD9, CDCA3, CHD4, CLEC4A, CLEC4C, CLSTN3, COPS7A, CRACR2A, DCP1B, DPPA3, DYRK4, EMG1, ENO2, ERC1, FBXL14, FERRY3, FGF23, FGF6, FKBP4, FOXJ2, FOXM1, GALNT8, GAPDH, GDF3, GNB3, GPR162, IFFO1, ING4, IQSEC3, ITFG2, KCNA1, KCNA5, KCNA6, KDM5A, LAG3, LPAR5, LPCAT3, LRRC23, LRTM2, LTBR, MIR141, MIR200C, MLF2, MRPL51, NANOG, NANOGNB, NCAPD2, NDUFA9, NECAP1, NINJ2, NOP2, NRIP2, NTF3, P3H3, PARP11, PEX5, PHB2, PIANP, PLEKHG6, PRMT8, PTMS, PTPN6, RAD51AP1, RAD52, RBP5, RHNO1, SCNN1A, SLC2A14, SLC2A3, SLC6A12, SLC6A13, SPSB2, TAPBPL, TEAD4, TIGAR, TNFRSF1A, TPI1, TSPAN9, TULP3, USP5, VAMP1, VWF, WNK1, WNT5B, ZNF384, ZNF705A 1 0 0 0 0 0 0 0 1
AGPAT5, ANGPT2, ARHGEF10, CLN8, CSMD1, DEFA1, DEFA1B, DEFA3, DEFA4, DEFA5, DEFA6, DEFB1, DLGAP2, ERICH1, FBXO25, KBTBD11, MCPH1, MYOM2, OR4F21, TDRP, USP17L1, USP17L4, XKR5, ZNF596 1 0 0 0 0 0 0 0 1
ALDOA, ASPHD1, C16orf54, C16orf92, CDIPT, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SPN, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, ZG16 1 0 0 0 0 0 0 0 1
ANKRD24, CREB3L3, EBI3, EEF2, FSD1, MAP2K2, MPND, PIAS4, SHD, SIRT6, STAP2, TMIGD2, YJU2, ZBTB7A 1 0 0 0 0 0 0 0 1
BBIP1 1 0 0 0 0 0 0 0 1
BRCA2 1 0 0 0 0 0 0 0 1
CARTPT 0 0 1 0 0 0 1 0 1
CDH10, CDH12, LINC02899, PRDM9 0 0 1 0 0 0 0 0 1
CDKAL1 0 0 0 0 0 0 1 0 1
CDR2, EEF2K, MOSMO, NPIPB4, NPIPB5, OTOA, PDZD9, POLR3E, SDR42E2, UQCRC2, VWA3A 1 0 0 0 0 0 0 0 1
CYFIP1, NIPA1, NIPA2, TUBGCP5 1 0 0 0 0 0 0 0 1
DDHD2 1 0 0 0 0 0 0 0 1
DEAF1 0 0 0 1 0 0 0 0 1
DIP2C 0 0 1 0 0 0 0 0 1
DIXDC1 0 1 0 0 0 0 0 0 1
DNM1L 0 1 0 0 0 0 0 0 1
DNMT3A 1 0 0 0 0 0 0 0 1
EMC1 0 1 0 0 0 0 0 0 1
FBXO11 0 1 0 0 0 0 0 0 1
GLDC 1 0 0 0 0 0 0 0 1
GNAS 1 0 0 0 0 0 0 0 1
GRIA4 0 1 0 0 0 0 0 0 1
KCNH2 0 1 0 0 0 0 0 0 1
KIF4A 0 0 1 0 0 0 0 0 1
KSR2 0 0 1 0 0 0 0 0 1
LEP, LOC106728418 0 0 0 1 0 0 0 0 1
LOC114803475, PPARG 0 0 1 0 0 0 0 0 1
LOC126806660, ULK4 0 0 1 0 0 0 0 0 1
LOC126862765, ZNF532 0 0 1 0 0 0 0 0 1
MC3R 0 0 0 1 0 0 0 0 1
MT-CYB 0 0 0 0 0 0 1 0 1
MYH10 0 0 1 0 0 0 0 0 1
MYH9 0 1 0 0 0 0 0 0 1
NAV3 0 0 1 0 0 0 0 0 1
NRXN1 0 1 0 0 0 0 0 0 1
NTRK2 0 0 1 0 0 0 0 0 1
PAX8 0 0 1 0 0 0 0 0 1
POGZ 0 1 0 0 0 0 0 0 1
POLG 1 0 0 0 0 0 0 0 1
PRTG 0 0 1 0 0 0 0 0 1
PYY 0 0 1 0 0 0 0 0 1
RSRC2 0 1 0 0 0 0 0 0 1
RYR1 0 0 1 0 0 0 0 0 1
SCAPER 1 0 0 0 0 0 0 0 1
SCN1A 0 1 0 0 0 0 0 0 1
SLC32A1 0 0 1 0 0 0 0 0 1
SMARCA4 0 0 1 0 0 0 0 0 1
SREBF1 0 0 1 0 0 0 0 0 1
SYNE2 0 0 1 0 0 0 0 0 1
SZT2 0 0 1 0 0 0 0 0 1
TBX3 0 0 0 0 1 0 0 0 1
ZNF778 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 57
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign protective risk factor not provided total
Illumina Laboratory Services, Illumina 2 1 313 42 39 0 0 0 392
Fulgent Genetics, Fulgent Genetics 2 1 31 15 4 0 0 0 53
OMIM 24 0 1 0 0 0 8 0 33
New York Genome Center 0 1 28 0 0 0 0 0 29
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 5 11 0 0 0 0 0 0 16
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 10 0 4 0 0 0 0 0 14
Centre for Mendelian Genomics, University Medical Centre Ljubljana 5 4 3 1 0 0 0 0 13
Institute of Human Genetics, University of Leipzig Medical Center 3 2 8 0 0 0 0 0 13
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 6 5 0 0 0 0 0 13
Dash Lab, University Health Network 0 7 2 0 2 0 0 0 11
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 2 2 2 0 0 0 1 10
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 3 2 5 0 0 0 0 0 10
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 6 0 1 0 0 0 7
Baylor Genetics 0 0 6 0 0 0 0 0 6
Mendelics 1 0 3 0 2 0 0 0 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 4 0 0 0 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 1 3 0 0 0 5
Molecular Endocrinology Laboratory, Christian Medical College 0 2 3 0 0 0 0 0 5
Claritas Genomics 3 0 1 0 0 0 0 0 4
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 3 0 0 0 0 0 4
Revvity Omics, Revvity 1 1 1 0 0 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 3 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 0 0 0 3
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 2 0 0 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 0 0 0 0 0 0 0 3
Department of Endocrinology, The Second Hospital of Jilin University 0 0 0 0 0 0 3 0 3
3billion 1 2 0 0 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 2 1 0 0 0 0 0 3
Department of Paediatrics, National University Hospital 0 2 0 1 0 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 2 0 0 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 0 0 2
UCL Genetics Institute, UCL 0 0 0 0 0 2 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 2 0 0 0 0 0 2
Division of Pediatric Endocrinology and Diabetes, Ulm University Medical Center 2 0 0 0 0 0 0 0 2
Athena Diagnostics 0 0 0 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 0 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 0 1 0 0 0 0 0 1
Medical Research Institute, Tokyo Medical and Dental University 1 0 0 0 0 0 0 0 1
Laboratory of Molecular Genetics, CHU Rennes 0 0 1 0 0 0 0 0 1
GenePathDx, GenePath diagnostics 0 1 0 0 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 0 0 1
The Morris Kahn Laboratory of Human Genetics, Ben-Gurion University of the Negev 1 0 0 0 0 0 0 0 1
Gujarat Genomics Initiative, Gujarat State Biotechnology Mission 1 0 0 0 0 0 0 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 1 0 0 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 0 0 1
Medical Genetics Laboratory, CHRU Nancy 1 0 0 0 0 0 0 0 1
DASA 0 1 0 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 0 0 1

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