ClinVar Miner

Variants studied for combined pituitary hormone deficiencies, genetic form

Included ClinVar conditions (28):
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
328 139 542 275 135 7 1352

Gene and significance breakdown #

Total genes and gene combinations: 39
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BTK 165 43 158 191 49 0 594
LHX3 13 8 75 18 11 0 115
PROP1 19 39 40 12 11 5 100
TBX19 13 7 59 3 19 0 99
HESX1 17 4 56 21 5 0 92
GHRHR 14 15 37 4 9 0 77
ACBD6, LHX4 5 0 26 9 11 1 52
POU1F1 26 9 17 0 1 1 50
GH-LCR, GH1 22 4 15 5 1 0 45
OTX2 1 1 25 4 5 0 35
LHX4 2 1 15 6 4 0 25
RNPC3 9 1 6 0 2 0 18
SOX3 2 0 3 1 1 0 7
CHMP2B, POU1F1 0 0 0 1 5 0 5
RPE65 1 0 3 0 0 0 4
​intergenic 2 0 1 0 0 0 3
MED13 3 0 0 0 0 0 3
ROBO1 2 1 0 0 0 0 3
CRIPT 2 0 0 0 0 0 2
GH1 2 0 0 0 0 0 2
LOC108281134, SOX3 0 0 1 0 1 0 2
RALGAPB 0 2 0 0 0 0 2
APPL1, ASB14, HESX1, IL17RD 0 0 1 0 0 0 1
ARID1A 1 0 0 0 0 0 1
ARL13A, ARMCX1, ARMCX2, ARMCX3, ARMCX4, ARMCX6, BTK, CENPI, CSTF2, DRP2, GLA, HNRNPH2, NOX1, NXF5, PCDH19, RPL36A, RPL36A-HNRNPH2, SRPX2, SYTL4, TAF7L, TIMM8A, TMEM35A, TNMD, TRMT2B, TSPAN6, XKRX 0 0 1 0 0 0 1
ATP6AP1, CTAG1A, CTAG1B, DNASE1L1, EMD, FAM3A, FAM50A, FLNA, G6PD, GDI1, IKBKG, LAGE3, PLXNA3, RPL10, SLC10A3, TAFAZZIN, UBL4A 0 1 0 0 0 0 1
BRCA2 1 0 0 0 0 0 1
BTK, GLA, HNRNPH2, RPL36A, RPL36A-HNRNPH2 1 0 0 0 0 0 1
BTK, GLA, RPL36A, RPL36A-HNRNPH2 0 0 1 0 0 0 1
BTK, TIMM8A 1 0 0 0 0 0 1
CSHL1, GH-LCR, GH1 0 0 1 0 0 0 1
DNA2 0 1 0 0 0 0 1
GLI2 0 1 0 0 0 0 1
LOC108281177, SOX2, SOX2-OT 1 0 0 0 0 0 1
LOC129931062, RNPC3 0 0 1 0 0 0 1
PAH 1 0 0 0 0 0 1
POC1A 0 1 0 0 0 0 1
SHH 1 0 0 0 0 0 1
XRCC4 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 70
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 171 41 192 201 48 0 653
Illumina Laboratory Services, Illumina 1 2 249 33 69 0 354
OMIM 107 0 0 0 0 0 107
Natera, Inc. 6 2 22 19 11 0 60
Fulgent Genetics, Fulgent Genetics 13 18 15 11 2 0 59
Baylor Genetics 16 15 13 0 0 0 44
Counsyl 3 18 7 0 1 0 29
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 15 6 0 1 1 0 23
Revvity Omics, Revvity 5 4 11 0 0 0 20
Genome-Nilou Lab 0 0 0 0 20 0 20
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 9 0 8 1 1 0 19
3billion 9 4 3 2 0 0 18
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 4 6 6 1 0 0 17
Department of Pathology and Laboratory Medicine, Sinai Health System 3 0 12 0 0 0 15
Endocrinology Clinic, Seth G.S. Medical College 5 7 0 0 0 0 12
Mendelics 1 0 0 6 1 0 8
Institute of Human Genetics, University of Leipzig Medical Center 1 2 5 0 0 0 8
Juno Genomics, Hangzhou Juno Genomics, Inc 2 4 2 0 0 0 8
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 6 0 0 0 0 6
GeneReviews 0 0 0 0 0 5 5
Molecular Genetics Laboratory, Institute for Ophthalmic Research 1 0 3 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 3 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 1 1 2 0 0 0 4
Department of Endocrinology and Genetics, Fuzhou Children’s Hospital of Fujian Medical University 3 1 0 0 0 0 4
Human Developmental Genetics Laboratory, Medical College of Wisconsin 3 0 0 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 0 0 0 0 0 3
Area of Clinical and Molecular Genetics, Hospital Universitario Vall de Hebron 0 1 0 2 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 1 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 2 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 1 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 2 0 0 0 0 2
Shaikh Laboratory, University of Colorado 0 2 0 0 0 0 2
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 1 0 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 1 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 2 0 0 0 0 0 2
Myriad Genetics, Inc. 2 0 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 2 0 0 0 2
New York Genome Center 1 0 1 0 0 0 2
Department of Pediatric Endocrinology, Ondokuz Mayis University 2 0 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 1 0 0 0 2
Department of Pediatrics, Taipei Veterans General Hospital 1 1 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
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 1 0 0 0 0 1
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 0 1 0 0 0 0 1
Hehr Laboratory, Center for Human Genetics Regensburg 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
GenePathDx, GenePath diagnostics 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 1 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 0 0 0 0 1
Moosajee Lab, UCL Institute of Ophthalmology 0 0 1 0 0 0 1
Istanbul Faculty of Medicine, Istanbul University 1 0 0 0 0 0 1
Shieh Lab, University of California, San Francisco 0 0 1 0 0 0 1
DASA 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Center of Human Genetics, Hôpital Erasme 0 1 0 0 0 0 1
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital 0 1 0 0 0 0 1

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