ClinVar Miner

Variants studied for calcinosis

Included ClinVar conditions (9):
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
46 25 232 31 61 392

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
KL 1 1 82 14 23 120
CLDN16 22 4 55 7 16 103
FGF23 5 1 46 7 11 69
GALNT3 14 0 39 2 11 66
SAMD9 2 2 9 1 0 14
SLC34A1 0 5 1 0 0 6
AGXT 0 4 0 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: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 1 0 217 30 60 308
OMIM 37 0 0 0 0 37
Yale Center for Mendelian Genomics,Yale University 0 18 0 0 0 18
Counsyl 0 2 6 1 0 9
Baylor Genetics 4 0 1 0 0 5
GeneReviews 3 0 0 0 0 3
Institute of Human Genetics, Klinikum rechts der Isar 3 0 0 0 0 3
Mendelics 0 1 0 0 1 2
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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 1
Department of Medical Genetics, National Institute of Health 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 1
Laboratory of Medical Genetics, INSERM 1 0 0 0 0 1
Felix Claverie-Martin Laboratory,Hospital Universitario Nuestra Senora de Candelaria 1 0 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
Sydney Genome Diagnostics,Children's Hospital Westmead 0 0 1 0 0 1

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