ClinVar Miner

Variants studied for familial isolated hyperparathyroidism

Included ClinVar conditions (5):
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 total
13 6 146 37 4 205

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CDC73 9 3 131 31 4 178
GCM2 2 3 13 6 0 23
MEN1 1 0 1 0 0 2
B3GALT2, CDC73 0 0 1 0 0 1
B3GALT2, CDC73, GLRX2, LINC01031, LINC02770, LOC111556116, LOC120893169, LOC122149332, LOC122149333, LOC122149334, LOC126805961, LOC126805962, LOC129388703, LOC129388704, LOC129388705, LOC129388706, LOC129388707, LOC129388708, LOC129388709, LOC129388710, LOC129388711, LOC129388712, LOC129388713, LOC129932134, LOC129932135, LOC129932136, LOC129932137, LOC129932138, LOC129932139, LOC129932140, LOC129932141, LOC129932142, LOC129932143, LOC129932144, LOC129932145, LOC129932146, LOC129932147, LOC129932148, LOC129932149, LOC129932150, LOC129932151, LOC132088601, LOC132088602, LOC132090670, MIR1278, MIR4426, RGS1, RGS13, RGS18, RGS2, RGS21, RO60, SCARNA18B, UCHL5 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 76 18 3 97
Fulgent Genetics, Fulgent Genetics 3 1 33 20 1 58
Baylor Genetics 3 1 39 0 0 43
OMIM 6 0 0 0 0 6
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 2 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 2
Molecular Genetics Laboratory, Biocruces Bizkaia Health Research Institute 0 0 2 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 1
Labor Lademannbogen MVZ GmbH 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 1
Suma Genomics 0 1 0 0 0 1

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