ClinVar Miner

Variants studied for combined pituitary hormone deficiencies, genetic form

Included ClinVar conditions (24):
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
160 54 308 62 67 2 624

Gene and significance breakdown #

Total genes and gene combinations: 24
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BTK 59 13 63 17 13 0 159
LHX3 9 0 71 10 5 0 91
PROP1 13 24 38 8 9 0 81
GHRHR 10 5 41 4 9 0 69
ACBD6, LHX4 5 0 15 7 11 1 39
POU1F1 17 5 16 0 1 1 39
HESX1 10 1 19 5 2 0 32
OTX2 1 0 23 3 5 0 32
GH-LCR, GH1 15 2 7 3 3 0 29
LHX4 2 0 12 5 4 0 22
GH1 9 0 0 0 0 0 9
CHMP2B, POU1F1 0 0 0 0 5 0 5
​intergenic 2 0 0 0 0 0 2
CRIPT 2 0 0 0 0 0 2
RALGAPB 0 2 0 0 0 0 2
RNPC3 2 0 0 0 0 0 2
SOX3 2 0 0 0 0 0 2
BRCA2 1 0 0 0 0 0 1
DNA2 0 1 0 0 0 0 1
LOC108281134, SOX3 0 0 1 0 0 0 1
POC1A 0 1 0 0 0 0 1
RYR1 0 0 1 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: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 1 2 202 30 52 0 287
Invitae 56 12 57 14 10 0 149
OMIM 89 0 0 0 0 0 89
Natera, Inc. 4 0 21 10 7 0 42
Counsyl 3 18 7 0 1 0 29
Baylor Genetics 2 1 11 0 0 0 14
Endocrinology Clinic, Seth G.S. Medical College 5 7 0 0 0 0 12
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 3 0 5 1 0 0 9
Mendelics 0 0 0 6 1 0 7
Integrated Genetics/Laboratory Corporation of America 2 2 0 1 1 0 6
Developmental Genetics Unit,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
Fulgent Genetics,Fulgent Genetics 0 0 5 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 1 0 4 0 0 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 3 0 0 0 4
Athena Diagnostics Inc 0 0 0 0 2 0 2
Shaikh Laboratory, University of Colorado 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
CHLA 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
Myriad Women's Health, Inc. 2 0 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 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,Causeway Health Care Private Ltd 0 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 0 1
Moosajee Lab,UCL Institute of Ophthalmology 0 0 1 0 0 0 1
Department of Medical Genetics,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

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