ClinVar Miner

Variants studied for calcium metabolic disease

Included ClinVar conditions (33):
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
245 147 1662 805 133 10 2897

Gene and significance breakdown #

Total genes and gene combinations: 22
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CASR 156 85 1271 697 35 5 2180
KL 1 1 97 24 24 1 146
CYP24A1 14 9 79 17 26 0 136
CLDN16 25 12 62 8 18 2 119
FGF23 7 2 52 12 13 1 82
GALNT3 17 4 45 5 11 0 80
SLC34A1 10 17 29 13 4 0 64
GNA11 8 1 9 16 1 0 34
SAMD9 2 3 14 7 0 0 26
AP2S1 3 0 2 5 1 0 11
AGXT 0 4 0 0 0 0 4
SLC12A1 0 3 0 0 0 0 3
ATP6V1B1 1 1 0 0 0 0 2
GRHPR 0 2 0 0 0 0 2
A2ML1, ACRBP, ACSM4, ADIPOR2, AICDA, AKAP3, ANO2, APOBEC1, ATN1, B4GALNT3, C12orf4, C12orf57, C1R, C1RL, C1S, C3AR1, CACNA1C, CACNA1C-IT1, CACNA1C-IT2, CACNA1C-IT3, CACNA2D4, CCDC77, CCND2, CD163, CD163L1, CD27, CD4, CD9, CDCA3, CHD4, CLEC4A, CLEC4C, CLEC4D, CLEC4E, CLEC6A, CLSTN3, COPS7A, CRACR2A, DCP1B, DPPA3, DYRK4, EMG1, ENO2, ERC1, FAM138D, FAM66C, FAM90A1, FBXL14, FGF23, FGF6, FKBP4, FOXJ2, FOXM1, GALNT8, GAPDH, GAU1, GDF3, GNB3, GPR162, IFFO1, ING4, IQSEC3, ITFG2, KCNA1, KCNA5, KCNA6, KDM5A, KLRG1, LAG3, LINC00937, LINC00940, LINC00942, LINC02371, LINC02417, LINC02443, LINC02449, LINC02455, LINC02827, LINC02972, LOC100128253, LOC100507560, LOC102723544, LOC105369595, LOC105369617, LOC105369632, LOC106799839, LOC107436002, LOC107832852, LOC107832854, LOC107984507, LOC108178986, LOC108178987, LOC108942766, LOC109461484, LOC112136100, LOC112163552, LOC112163597, LOC112163604, LOC112163620, LOC112163621, LOC112163622, LOC112163623, LOC112163625, LOC112163626, LOC112163630, LOC113939935, LOC116268425, LOC116268426, LOC116268427, LOC116268428, LOC116268429, LOC116268430, LOC116268431, LOC120807612, LOC121392955, LOC121392956, LOC121403743, LOC121403744, LOC121466689, LOC121466690, LOC121832825, LOC121832826, LOC124625876, LOC124625877, LOC124625878, LOC124625879, LOC124625880, LOC124625881, LOC124625882, LOC124625883, LOC124625884, LOC124625885, LOC124625886, LOC124625887, LOC124625889, LOC124625890, LOC124625892, LOC124625893, LOC124625895, LOC124625896, LOC124625897, LOC124625898, LOC124625899, LOC124625900, LOC124906977, LOC126861410, LOC126861411, LOC126861412, LOC126861413, LOC126861414, LOC126861415, LOC126861416, LOC126861417, LOC126861418, LOC126861419, LOC126861420, LOC126861421, LOC126861422, LOC126861423, LOC126861424, LOC126861425, LOC126861426, LOC126861427, LOC126861428, LOC126861429, LOC126861430, LOC126861431, LOC126861432, LOC126861433, LOC126861434, LOC126861435, LOC126861436, LOC126861437, LOC126861438, LOC126861439, LOC126861440, LOC126861441, LOC126861442, LOC126861443, LOC126861444, LOC129390385, LOC129390386, LOC129390387, LOC129390388, LOC129390389, LOC129390390, LOC129390391, LOC129390392, LOC129390393, LOC129390394, LOC129390395, LOC130007132, LOC130007133, LOC130007134, LOC130007135, LOC130007136, LOC130007137, LOC130007138, LOC130007139, LOC130007140, LOC130007141, LOC130007142, LOC130007143, LOC130007144, LOC130007145, LOC130007146, LOC130007147, LOC130007148, LOC130007149, LOC130007150, LOC130007151, LOC130007152, LOC130007153, LOC130007154, LOC130007155, LOC130007156, LOC130007157, LOC130007158, LOC130007159, LOC130007160, LOC130007161, LOC130007162, LOC130007163, LOC130007164, LOC130007165, LOC130007166, LOC130007167, LOC130007168, LOC130007169, LOC130007170, LOC130007171, LOC130007172, LOC130007173, LOC130007174, LOC130007175, LOC130007176, LOC130007177, LOC130007178, LOC130007179, LOC130007180, LOC130007181, LOC130007182, LOC130007183, LOC130007184, LOC130007185, LOC130007186, LOC130007187, LOC130007188, LOC130007189, LOC130007190, LOC130007191, LOC130007192, LOC130007193, LOC130007194, LOC130007195, LOC130007196, LOC130007197, LOC130007198, LOC130007199, LOC130007200, LOC130007201, LOC130007202, LOC130007203, LOC130007204, LOC130007205, LOC130007206, LOC130007207, LOC130007208, LOC130007209, LOC130007210, LOC130007211, LOC130007212, LOC130007213, LOC130007214, LOC130007215, LOC130007216, LOC130007217, LOC130007218, LOC130007219, LOC130007220, LOC130007221, LOC130007222, LOC130007223, LOC130007224, LOC130007225, LOC130007226, LOC130007227, LOC130007228, LOC130007229, LOC130007230, LOC130007231, LOC130007232, LOC130007233, LOC130007234, LOC130007235, LOC130007236, LOC130007237, LOC130007238, LOC130007239, LOC130007240, LOC130007241, LOC130007242, LOC130007243, LOC130007244, LOC130007245, LOC130007246, LOC130007247, LOC130007248, LOC130007249, LOC130007250, LOC130007251, LOC130007252, LOC130007253, LOC130007254, LOC130007255, LOC130007256, LOC130007257, LOC130007258, LOC130007259, LOC130007260, LOC130007261, LOC130007262, LOC130007263, LOC130007264, LOC130007265, LOC130007266, LOC130007267, LOC130007268, LOC130007269, LOC130007270, LOC130007271, LOC130007272, LOC130007273, LOC130007274, LOC130007275, LOC130007276, LOC130007277, LOC130007278, LOC130007279, LOC130007280, LOC130007281, LOC130007282, LOC130007283, LOC130007284, LOC130007285, LOC130007286, LOC130007287, LOC130007288, LOC130007289, LOC130007290, LOC130007291, LOC130007292, LOC130007293, LOC130007294, LOC130007295, LOC130007296, LOC130007297, LOC130007298, LOC130007299, LOC130007300, LOC130007301, LOC130007302, LOC130007303, LOC130007304, LOC130007305, LOC130007306, LOC130007307, LOC130007308, LOC130007309, LOC130007310, LOC130007311, LOC130007312, LOC130007313, LOC130007314, LOC130007315, LOC130007316, LOC130007317, LOC130007318, LOC130007319, LOC130007320, LOC130007321, LOC130007322, LOC130007323, LOC130007324, LOC130007325, LOC130007326, LOC130007327, LOC130007328, LOC130007329, LOC130007330, LOC130007331, LOC130007332, LOC130007333, LOC130007334, LOC130007335, LOC130007336, LOC130007337, LOC130007338, LOC130007339, LOC132090142, LOC574538, LPAR5, LPCAT3, LRRC23, LRTM2, LTBR, M6PR, MFAP5, MIR141, MIR200C, MIR200CHG, MIR3649, MLF2, MRPL51, NANOG, NANOGNB, NCAPD2, NDUFA9, NECAP1, NINJ2, NOP2, NRIP2, NTF3, P3H3, PARP11, PEX5, PHB2, PHC1, PIANP, PLEKHG6, PRMT8, PTMS, PTPN6, RAD51AP1, RAD52, RBP5, RHNO1, RIMKLB, RNU7-1, SCARNA10, SCARNA11, SCARNA12, SCNN1A, SLC2A14, SLC2A3, SLC6A12, SLC6A13, SNORA120, SPSB2, TAPBPL, TEAD4, TEX52, THCAT155, TIGAR, TNFRSF1A, TPI1, TSPAN9, TSPAN9-IT1, TULP3, USP5, VAMP1, VWF, WNK1, WNT5B, ZNF384, ZNF705A 0 0 0 0 0 1 1
ADCY5, CASR, CCDC14, CD86, CSTA, DTX3L, EAF2, FAM162A, HACD2, HEG1, HSPBAP1, ILDR1, IQCB1, ITGB5, KALRN, KPNA1, MIX23, MUC13, MYLK, OSBPL11, PARP14, PARP15, PARP9, PDIA5, ROPN1, SEC22A, SEMA5B, SLC12A8, SLC15A2, SLC49A4, SNX4, UMPS, WDR5B, ZNF148 0 0 1 0 0 0 1
CASR, CSTA 1 0 0 0 0 0 1
CLDN19 0 1 0 0 0 0 1
F12, SLC34A1 0 0 0 1 0 0 1
KL, LOC130009539 0 0 1 0 0 0 1
RNF213 0 1 0 0 0 0 1
SLC3A1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 74
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 110 32 1229 682 26 0 2079
Illumina Laboratory Services, Illumina 5 2 320 46 98 0 471
Fulgent Genetics, Fulgent Genetics 23 14 162 99 10 0 308
OMIM 103 0 0 0 0 0 103
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 19 37 0 3 1 0 60
Molecular Genetics Laboratory, Biocruces Bizkaia Health Research Institute 12 8 2 0 0 0 22
Genome-Nilou Lab 0 0 0 0 21 0 21
Yale Center for Mendelian Genomics, Yale University 0 18 0 0 0 0 18
Baylor Genetics 5 1 6 0 0 0 12
Revvity Omics, Revvity 4 3 5 0 0 0 12
Mendelics 2 3 2 1 4 0 12
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 4 5 3 0 0 0 12
Genetics and Molecular Pathology, SA Pathology 4 3 4 1 0 0 12
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 5 5 0 0 0 12
Counsyl 0 2 6 1 0 0 9
Neuberg Centre For Genomic Medicine, NCGM 0 2 6 0 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 2 0 1 0 0 7
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 3 0 0 0 0 7
Institute of Human Genetics, Cologne University 0 1 5 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 4 0 0 0 6
Molecular Genetics, Royal Melbourne Hospital 3 2 1 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 2 0 3 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 1 0 0 4
Felix Claverie-Martin Laboratory, Hospital Universitario Nuestra Senora de Candelaria 4 0 0 0 0 0 4
3billion 1 1 2 0 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 4 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 1 0 0 0 3
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 3 0 0 0 0 0 3
GeneReviews 0 0 0 0 0 3 3
Duke University Health System Sequencing Clinic, Duke University Health System 1 1 1 0 0 0 3
Center for Bone Health, The Children's Hospital of Philadelphia 3 0 0 0 0 0 3
Sydney Genome Diagnostics, Children's Hospital Westmead 1 0 2 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 2
MGZ Medical Genetics Center 0 0 2 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 1 0 0 0 2
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 2 0 0 0 0 0 2
Clinical Genetics and Genomics, Karolinska University Hospital 0 2 0 0 0 0 2
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 1 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 2 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 1 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 0 0 0 0 0 2
Suma Genomics 0 2 0 0 0 0 2
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 2 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 1
MVZ Dr. Eberhard & Partner Dortmund 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1
Department of Medical Genetics, National Institute of Health 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 0 1 0 0 0 0 1
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University 1 0 0 0 0 0 1
MK Azim Lab, Mohammad Ali Jinnah University 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Breda Genetics srl 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 1 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Endocrine Research Center, Institute of Endocrinology and Metabolism, Iran University of Medical Sciences 0 0 1 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Eurofins-Biomnis 0 1 0 0 0 0 1

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