ClinVar Miner

Variants studied for obesity due to melanocortin 4 receptor deficiency

Included ClinVar conditions (44):
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
41 37 136 28 13 2 11 1 246

Gene and significance breakdown #

Total genes and gene combinations: 67
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign protective risk factor not provided total
MC4R 19 18 44 3 5 2 0 1 71
ENPP1 1 1 15 8 1 0 3 0 29
POMC 1 0 22 2 3 0 0 0 28
PPARG 0 1 11 6 2 0 0 0 19
​intergenic 3 2 5 0 0 0 2 0 12
UCP3 0 0 6 4 0 0 0 0 10
NR0B2, NUDC 1 1 3 0 0 0 0 0 5
GHRL, GHRLOS 0 0 1 1 0 0 2 0 4
ADRB3 0 0 2 0 0 0 1 0 3
BDNF 0 1 1 0 1 0 0 0 3
LEPR 0 1 0 2 0 0 0 0 3
LOC108167315, POMC 0 0 2 0 0 0 0 0 2
LOC129933280, POMC 0 1 1 0 0 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
AGRP, ATP6V0D1-DT 0 0 1 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
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
SIM1 0 0 1 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: 37
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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 67 10 9 0 0 0 89
Fulgent Genetics, Fulgent Genetics 2 1 27 13 2 0 0 0 45
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
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 6 5 0 0 0 0 0 13
Centre for Mendelian Genomics, University Medical Centre Ljubljana 5 4 2 1 0 0 0 0 12
Dash Lab, University Health Network 0 7 2 0 2 0 0 0 11
OMIM 1 0 1 0 0 0 8 0 10
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
Institute of Human Genetics, University of Leipzig Medical Center 3 0 5 0 0 0 0 0 8
New York Genome Center 0 1 6 0 0 0 0 0 7
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 4 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
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 2 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
Department of Paediatrics, National University Hospital 0 2 0 1 0 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 0 0 2
Mendelics 1 0 1 0 0 0 0 0 2
UCL Genetics Institute, UCL 0 0 0 0 0 2 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 1 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 2 0 0 0 0 0 2
Molecular Endocrinology Laboratory, Christian Medical College 0 1 1 0 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 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
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 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
Institute of Human Genetics, University Hospital Muenster 1 0 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

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