ClinVar Miner

Variants studied for calcium metabolic disease

Included ClinVar conditions (23):
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
152 84 970 292 117 1572

Gene and significance breakdown #

Total genes and gene combinations: 17
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CASR 80 48 666 256 30 1045
KL 1 1 82 14 23 120
CYP24A1 9 5 67 5 26 110
CLDN16 22 4 55 7 16 103
FGF23 5 1 46 7 11 69
GALNT3 14 0 39 2 11 66
SLC34A1 7 11 4 0 0 19
SAMD9 2 2 9 1 0 14
GNA11 7 0 1 0 0 8
AGXT 0 4 0 0 0 4
AP2S1 3 0 1 0 0 4
SLC12A1 0 3 0 0 0 3
ATP6V1B1 1 1 0 0 0 2
GRHPR 0 2 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, LINC02417, LINC02443, LINC02449, LINC02455, LINC02827, LOC100128253, LOC100507424, LOC102723544, LOC105369595, 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, 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, TULP3, USP5, VAMP1, VWF, WNK1, WNT5B, ZNF384, ZNF705A 1 0 0 0 0 1
CLDN19 0 1 0 0 0 1
SLC3A1 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 41
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 39 26 627 242 19 953
Illumina Clinical Services Laboratory,Illumina 4 1 320 46 98 469
OMIM 102 0 0 0 0 102
Integrated Genetics/Laboratory Corporation of America 1 18 0 3 1 23
Yale Center for Mendelian Genomics,Yale University 0 18 0 0 0 18
Baylor Genetics 5 1 6 0 0 12
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 4 5 3 0 0 12
Mendelics 0 3 2 1 4 10
Counsyl 0 2 6 1 0 9
Institute of Human Genetics,Cologne University 0 1 5 0 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 4 0 0 6
Fulgent Genetics,Fulgent Genetics 3 0 2 0 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2 1 0 0 3
GeneReviews 3 0 0 0 0 3
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 2 1 0 0 0 3
Institute of Human Genetics, Klinikum rechts der Isar 3 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 0 1 0 0 3
Center for Bone Health,The Children's Hospital of Philadelphia 3 0 0 0 0 3
Sydney Genome Diagnostics,Children's Hospital Westmead 1 0 2 0 0 3
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 2 0 0 2
SIB Swiss Institute of Bioinformatics 1 1 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 1
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 1 0 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 1 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 1
Department of Medical Genetics, National Institute of Health 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Laboratory of Medical Genetics, INSERM 1 0 0 0 0 1
MK Azim Lab,Mohammad Ali Jinnah University 0 0 1 0 0 1
Felix Claverie-Martin Laboratory,Hospital Universitario Nuestra Senora de Candelaria 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 1 0 0 0 1
Endocrine Research Center, Institute of Endocrinology and Metabolism,Iran University of Medical Sciences 0 0 1 0 0 1
Molecular Genetics Laboratory,Biocruces Bizkaia Health Research Institute 1 0 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 1 0 0 0 1

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