ClinVar Miner

Variants studied for adrenal gland disease

Included ClinVar conditions (122):
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 risk factor not provided total
1179 600 2798 1191 299 1 23 5836

Gene and significance breakdown #

Total genes and gene combinations: 107
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
TP53 120 94 418 157 12 0 0 752
SDHA 25 16 368 184 19 0 0 587
MEN1 101 31 235 144 23 0 4 524
LOC107303340, VHL 92 34 160 57 13 0 0 342
SDHB 85 38 171 48 9 0 2 331
RET 55 19 174 73 12 0 2 301
VHL 73 24 127 48 7 0 0 265
SDHC 12 8 130 41 18 0 0 204
SDHD 47 10 104 33 8 0 1 196
TMEM127 11 21 106 58 10 0 0 193
ABCD1 60 23 53 22 21 0 0 173
KIF1B 1 0 91 52 8 0 0 152
AIRE 23 46 43 11 22 0 0 137
PRKAR1A 41 1 42 46 7 0 1 132
KCNJ5 5 0 59 21 18 0 0 103
MAX 5 0 45 36 7 0 0 93
SDHAF2 4 1 54 21 6 0 0 84
CYP11B1, LOC106799833 12 22 30 14 8 0 6 82
NR3C1 8 0 47 20 0 0 0 75
CYP11B1 11 8 15 20 18 0 2 70
NR0B1 67 3 2 0 0 0 0 70
CYP11B2, LOC106799834 7 0 14 28 17 0 0 66
STAR 15 20 30 1 2 0 0 65
PEX6 10 25 19 2 0 0 0 56
FAM20A, PRKAR1A 4 1 19 21 7 0 0 52
PEX12 6 28 16 0 0 0 0 50
AAAS 11 2 28 6 1 0 0 47
CHEK2 11 4 34 0 0 0 0 47
PEX10 9 18 16 1 0 0 0 41
PEX1 3 32 5 0 0 0 0 40
CYP21A2, LOC106780800 22 5 3 3 5 0 1 38
GHSR 3 0 21 7 8 0 0 38
HSD3B2 10 1 18 4 1 0 0 34
CYP11A1 9 1 13 1 0 0 0 24
CYP21A2 20 1 1 0 0 0 0 22
CYP17A1 5 1 11 0 2 0 2 21
PEX2 4 7 9 0 0 0 0 20
GATAD1, PEX1 2 10 3 0 0 0 1 16
HSD11B2 11 0 5 0 1 0 0 16
MC2R 14 1 0 0 0 0 0 15
GNAS 11 4 2 0 0 0 0 14
POR 7 3 4 0 0 0 0 13
CLCN2 11 0 1 0 0 0 0 12
CDKN1C 8 0 2 0 1 0 0 11
CTNNB1 0 11 0 0 0 0 0 11
TP53, WRAP53 1 1 3 5 1 0 0 11
MRAP 10 0 0 0 0 0 0 10
NNT 10 0 0 0 0 0 0 10
PEX26 5 0 4 1 0 0 0 10
GHR 6 0 3 0 0 0 0 8
GMPPA 6 0 2 0 0 0 0 8
ARMC5 7 0 0 0 0 0 0 7
PEX16 3 1 3 0 0 0 0 7
H6PD 5 0 1 0 0 0 0 6
LOC106736614, RET 0 0 4 1 1 0 0 6
PDE11A 1 3 2 0 0 0 0 6
PEX5 2 0 3 0 1 0 0 6
CYP17A1, LOC110408762 0 0 4 0 1 0 0 5
LOC100506321, MAX 2 0 1 2 0 0 0 5
NRAS 0 5 0 0 0 0 0 5
USP8 5 0 0 0 0 0 0 5
AKR1C2 4 0 0 0 0 0 0 4
CACNA1D 2 1 2 0 0 0 0 4
PEX10, PLCH2 1 3 0 0 0 0 0 4
PIK3CA 0 4 0 0 0 0 0 4
AIP 1 0 2 0 0 0 0 3
ATP1A1 3 0 0 0 0 0 0 3
ATP2B3 3 0 0 0 0 0 0 3
BRAF 0 3 0 0 0 0 0 3
HSD11B1 2 0 1 0 0 0 0 3
LOC110121224, TMEM127 2 0 1 0 0 0 0 3
MYH8, MYHAS 1 0 2 0 0 0 0 3
PEX11B 3 0 0 0 0 0 0 3
SERPINA6 3 0 0 0 0 0 0 3
BRK1, FANCD2, FANCD2OS, LOC107303338, LOC107303339, LOC107303340, VHL 1 0 1 0 0 0 0 2
CYP11A1, LOC108964933 0 0 2 0 0 0 0 2
CYP11B1, LOC110673972 0 2 0 0 0 0 0 2
CYP11B2 2 0 0 0 0 0 0 2
LOC108863620, STAR 0 0 2 0 0 0 0 2
MPZ, SDHC 0 0 0 0 2 0 0 2
PADI2, SDHB 2 0 0 0 0 0 0 2
PEX13 2 0 0 0 0 0 0 2
PRKACA 2 0 0 0 0 0 0 2
TBX19 0 0 2 0 0 0 0 2
​intergenic 1 0 0 0 0 0 0 1
AAAS, C12orf10 1 0 0 0 0 0 0 1
ABCD1, BCAP31, PLXNB3 1 0 0 0 0 0 0 1
AIRE, CFAP410, DNMT3L, ICOSLG, ITGB2, KRTAP10-1, KRTAP10-10, KRTAP10-11, KRTAP10-12, KRTAP10-2, KRTAP10-3, KRTAP10-4, KRTAP10-5, KRTAP10-6, KRTAP10-7, KRTAP10-8, KRTAP10-9, KRTAP12-1, KRTAP12-2, KRTAP12-3, KRTAP12-4, LRRC3, PFKL, PTTG1IP, SUMO3, TRPM2, TSPEAR, UBE2G2 0 0 1 0 0 0 0 1
AKR1C4 0 0 0 0 0 1 0 1
CACNA1H 1 0 0 0 0 0 0 1
CFAP126, SDHC 0 0 0 0 1 0 0 1
CXorf21, DMD, FTHL17, GK, IL1RAPL1, LOC108410393, LOC113875019, MAGEB1, MAGEB2, MAGEB3, MAGEB4, MIR3915, MIR4666B, MIR6134, NR0B1, TAB3 1 0 0 0 0 0 0 1
CXorf21, DMD, FTHL17, GK, LOC108410393, LOC113875019, MAGEB1, MAGEB2, MAGEB3, MAGEB4, NR0B1, TAB3 1 0 0 0 0 0 0 1
CXorf21, IL1RAPL1, LOC108410393, LOC113875019, MAGEB1, MAGEB2, MAGEB3, MAGEB4, MIR4666B, NR0B1 1 0 0 0 0 0 0 1
CYP11B2, LOC106799834, LOC110673971 0 0 0 1 0 0 0 1
CYP21A2, LOC106780800, TNXB 0 0 0 0 1 0 1 1
DSC2 0 0 1 0 0 0 0 1
GNAI2 1 0 0 0 0 0 0 1
H3F3A 0 1 0 0 0 0 0 1
HSD3B2, LOC109029530 0 0 1 0 0 0 0 1
LOC105373764, PDE11A 0 1 0 0 0 0 0 1
LOC108410393, NR0B1 1 0 0 0 0 0 0 1
LOC110121502, MCS+9.7, RET 0 0 0 1 0 0 0 1
PDE8B 1 0 0 0 0 0 0 1
PEX13, PUS10 0 0 1 0 0 0 0 1
TXNRD2 1 1 0 0 0 0 0 1
ZMYND11 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 76
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 402 113 1709 665 120 0 0 3009
Illumina Clinical Services Laboratory,Illumina 5 4 672 422 153 0 0 1256
Counsyl 72 229 321 121 14 0 0 757
OMIM 458 0 3 0 0 1 0 462
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 121 35 36 7 8 0 0 207
Fulgent Genetics 39 8 113 0 0 0 0 160
Integrated Genetics/Laboratory Corporation of America 54 45 20 10 8 0 8 145
Mendelics 13 6 71 2 2 0 0 94
Section on Medical Neuroendocrinolgy,National Institutes of Health 59 13 8 0 0 0 0 80
Database of Curated Mutations (DoCM) 0 79 0 0 0 0 0 79
GeneReviews 67 0 0 0 5 0 0 72
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 35 20 1 0 0 0 0 56
Institute of Human Genetics,Klinikum rechts der Isar 48 0 0 0 0 0 0 48
Center for Human Genetics, Inc 27 5 4 1 0 0 0 37
ARUP Institute,ARUP Laboratories 31 0 0 0 0 0 0 31
CSER_CC_NCGL; University of Washington Medical Center 1 0 10 10 0 0 0 21
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 18 0 2 0 0 0 0 20
Familial Cancer Clinic,Veneto Institute of Oncology 0 19 0 0 0 0 0 19
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 15 0 0 0 0 0 0 15
Pathway Genomics 8 1 5 0 1 0 0 15
Molecular Diagnostics Laboratory,M Health: University of Minnesota 5 10 0 0 0 0 0 15
Genetic Services Laboratory, University of Chicago 5 7 1 0 0 0 0 13
Genomic Research Center,Shahid Beheshti University of Medical Sciences 7 0 5 0 0 0 0 12
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 1 7 4 0 0 0 0 12
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 11 0 0 0 0 11
Endocrinology Clinic, Seth G.S. Medical College 0 10 0 0 0 0 0 10
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 2 0 6 0 2 0 0 10
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 7 2 0 0 0 0 0 9
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 1 0 1 1 6 0 0 9
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 2 2 3 0 0 0 0 7
GenomeConnect, ClinGen 0 0 0 0 0 0 7 7
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 6 0 0 0 0 7
Pediatric Endocrinology Laboratory; Christian Albrechts University of Kiel 0 0 0 0 0 0 6 6
Division of Human Genetics,Children's Hospital of Philadelphia 3 1 2 0 0 0 0 6
Undiagnosed Diseases Network,NIH 2 3 1 0 0 0 0 6
University of Washington Department of Laboratory Medicine,University of Washington 1 0 0 3 2 0 0 6
Ute Scholl Laboratory,Heinrich Heine University Duesseldorf 5 0 0 0 0 0 0 5
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 4 0 0 0 0 0 4
Knight Diagnostic Laboratories,Oregon Health and Sciences University 2 0 2 0 0 0 0 4
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 2 2 0 0 0 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 3 0 0 0 0 4
GenePathDx,Causeway Health Care Private Ltd 0 4 0 0 0 0 0 4
Baylor Miraca Genetics Laboratories, 1 1 1 0 0 0 0 3
Athena Diagnostics Inc 0 0 0 0 3 0 0 3
UCLA Clinical Genomics Center, UCLA 3 0 0 0 0 0 0 3
Donald Williams Parsons Laboratory,Baylor College of Medicine 2 1 0 0 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 3 0 0 0 0 0 3
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 2 0 1 0 0 0 0 3
Department of Pediatrics,Memorial Sloan Kettering Cancer Center 3 0 0 0 0 0 0 3
Johns Hopkins Genomics,Johns Hopkins University 2 0 1 0 0 0 0 3
Rady Children's Institute for Genomic Medicine,Rady Children's Hospital San Diego 1 1 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 0 0 0 0 0 0 2
Biesecker Lab/Human Development Section,National Institutes of Health 1 0 0 0 0 0 0 1
PreventionGenetics 0 0 1 0 0 0 0 1
Institute of Human Genetics,Cologne University 1 0 0 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 0 0 1
Laboratory for Genetics of Human Development Center for Human Genetics, Catholic University of Leuven 1 0 0 0 0 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 1 0 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 1 1
ITMI 1 0 0 0 0 0 0 1
Faculty of Medicine, Iran University of Medical Sciences (IUMS) 1 0 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 0 1
Center for Human Genetics,University of Leuven 0 1 0 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 0 0 0 0 0 0 1
Programa de Ciencias Genomicas e Biotecnologia,Universidade Catolica de Brasilia 1 0 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 0 1
IntelligeneCG 0 0 0 0 1 0 0 1
Genetics,Medical University of Vienna 0 1 0 0 0 0 0 1
Centro de Desenvolvimento Científico e Tecnológico,Secretaria da Saúde do Estado do Rio Grande do Sul 0 0 0 0 0 0 1 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 0 0 0 0 0 0 1
Genomics Laboratory,Virgen de la Arrixaca University Clinical Hospital 1 0 0 0 0 0 0 1
Academic Center for Education, Culture and Research, Motamed Cancer Institute 1 0 0 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 0 1 0 0 0 0 0 1
Department of Laboratory Medicine,Soonchunhyang University Seoul Hospital 1 0 0 0 0 0 0 1
Children’s Hospital, Clinical research laboratory,Medizinische Fakultaet Carl Gustav Carus, Technische Universitaet Dresden 1 0 0 0 0 0 0 1

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