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
296 107 509 253 137 7 1243

Gene and significance breakdown #

Total genes and gene combinations: 38
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BTK 143 35 141 171 49 0 528
LHX3 12 3 75 17 11 0 110
TBX19 13 3 59 3 19 0 95
PROP1 18 34 38 12 11 5 93
HESX1 15 4 55 20 5 0 90
GHRHR 11 8 42 4 9 0 74
ACBD6, LHX4 5 0 23 8 11 1 48
POU1F1 25 8 16 0 1 1 47
GH-LCR, GH1 22 4 9 5 3 0 41
OTX2 1 0 24 4 5 0 33
LHX4 2 1 15 6 4 0 25
RNPC3 9 1 2 0 2 0 14
CHMP2B, POU1F1 0 0 0 1 5 0 5
RPE65 1 0 3 0 0 0 4
SOX3 2 0 0 1 1 0 4
MED13 3 0 0 0 0 0 3
ROBO1 2 1 0 0 0 0 3
​intergenic 2 0 0 0 0 0 2
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, 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
HSALR1, PIEZO1 0 0 0 1 0 0 1
LOC108281177, SOX2, SOX2-OT 1 0 0 0 0 0 1
POC1A 0 1 0 0 0 0 1
RYR1 0 0 1 0 0 0 1
SHH 1 0 0 0 0 0 1
SYNE2 0 0 1 0 0 0 1
XRCC4 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 63
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 148 34 175 182 48 0 587
Illumina Laboratory Services, Illumina 1 2 256 33 69 0 361
OMIM 105 0 0 0 0 0 105
Natera, Inc. 6 2 22 19 11 0 60
Baylor Genetics 15 11 12 0 0 0 38
Fulgent Genetics, Fulgent Genetics 7 1 11 11 2 0 32
Counsyl 3 18 7 0 1 0 29
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 8 4 2 0 0 0 14
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 3 0 1 1 0 12
Endocrinology Clinic, Seth G.S. Medical College 5 7 0 0 0 0 12
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 3 5 1 0 0 9
Mendelics 1 0 0 6 1 0 8
Institute of Human Genetics, University of Leipzig Medical Center 1 2 5 0 0 0 8
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 4 2 0 0 0 0 6
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
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
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
Athena Diagnostics Inc 0 0 0 0 2 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 1 0 0 2
Shaikh Laboratory, University of Colorado 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 2 0 0 0 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
Department of Pediatric Endocrinology, Ondokuz Mayis University 2 0 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 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
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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 1 0 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
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 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
New York Genome Center 0 0 1 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

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