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
259 151 1665 805 133 10 2916

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 162 83 1272 697 35 5 2185
KL 1 1 97 24 24 1 146
CYP24A1 18 10 79 17 26 0 142
CLDN16 28 13 64 8 18 2 124
FGF23 7 2 52 12 13 1 82
GALNT3 17 4 45 5 11 0 80
SLC34A1 11 21 29 13 4 0 67
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, 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, FERRY3, 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: 78
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 111 32 1229 682 26 0 2080
Illumina Laboratory Services, Illumina 5 3 319 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 28 33 0 3 1 0 65
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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 6 6 0 0 0 14
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
Neuberg Centre For Genomic Medicine, NCGM 0 4 7 0 0 0 11
Counsyl 0 2 6 1 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 2 0 1 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 2 3 3 0 0 0 8
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 3 0 0 0 0 7
MVZ Medizinische Genetik Mainz 3 1 3 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
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
Chinese Inherited Urolithiasis Consortium, The Affiliated Yantai Yuhuangding Hospital of Qingdao University 3 1 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
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 1 0 0 0 0 3
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
MGZ Medical Genetics Center 0 0 2 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 1 0 0 0 2
MVZ Dr. Eberhard & Partner Dortmund 0 0 2 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, Suma Genomics 0 2 0 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
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
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 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
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
MOLECULAR BIOLOGY AND HUMAN GENETICS DIVISION, THE UNIVERSITY OF BURDWAN 1 0 0 0 0 0 1

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