ClinVar Miner

Variants studied for Chopra-Amiel-Gordon syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
16 23 45 4 0 1 88

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign not provided total
ANKRD17 15 23 45 4 1 87
ADAMTS3, AFM, AFP, ALB, ANKRD17, ANKRD17-DT, ANXA3, AREG, ART3, BMP2K, BMP2K-DT, BTC, CCDC158, CCNG2, CCNI, CDKL2, CNOT6L, COX18, CXCL1, CXCL10, CXCL11, CXCL13, CXCL2, CXCL3, CXCL5, CXCL6, CXCL8, CXCL9, EPGN, EREG, FAM47E, FAM47E-STBD1, FRAS1, G3BP2, INKILN, LINC01094, LINC02483, LINC02499, LINC02562, LOC101928893, LOC111591506, LOC111828520, LOC111832670, LOC111832671, LOC112978670, LOC112978671, LOC112997534, LOC112997535, LOC116158494, LOC116158495, LOC116158496, LOC116158497, LOC116158498, LOC116158499, LOC116158500, LOC121053184, LOC121053185, LOC121053186, LOC121053187, LOC121725172, LOC121725173, LOC123477756, LOC123477757, LOC123477758, LOC123477759, LOC123477760, LOC123477761, LOC123477762, LOC123477763, LOC123477764, LOC123477765, LOC123477766, LOC123477767, LOC123477768, LOC123477769, LOC126807076, LOC126807077, LOC126807078, LOC126807079, LOC126807080, LOC126807081, LOC126807082, LOC126807083, LOC126807084, LOC126807085, LOC126807086, LOC126807087, LOC126807088, LOC126807089, LOC126807090, LOC126807091, LOC129389219, LOC129992669, LOC129992670, LOC129992671, LOC129992672, LOC129992673, LOC129992674, LOC129992675, LOC129992676, LOC129992677, LOC129992678, LOC129992679, LOC129992680, LOC129992681, LOC129992682, LOC129992683, LOC129992684, LOC129992685, LOC129992686, LOC129992687, LOC129992688, LOC129992689, LOC129992690, LOC129992691, LOC129992692, LOC129992693, LOC129992694, LOC129992695, LOC129992696, LOC129992697, LOC129992698, LOC129992699, LOC129992700, LOC129992701, LOC129992702, LOC129992703, LOC129992704, LOC129992705, LOC129992706, LOC129992707, LOC129992708, LOC129992709, LOC129992710, LOC129992711, LOC129992712, LOC129992713, LOC129992714, LOC129992715, LOC129992716, LOC129992717, LOC129992718, LOC129992719, LOC129992720, LOC129992721, LOC129992722, LOC129992723, LOC129992724, LOC129992725, LOC129992726, LOC129992727, LOC129992728, LOC129992729, LOC129992730, LOC129992731, LOC129992732, LOC129992733, LOC129992734, LOC129992735, LOC129992736, MIR4450, MIR548AH, MRPL1, MTHFD2L, NAAA, NPFFR2, NUP54, ODAPH, PAQR3, PARM1, PF4, PF4V1, PPBP, PPEF2, RASSF6, RCHY1, SCARB2, SDAD1, SEPTIN11, SEPTIN11-DT, SHROOM3, SNORD161, SOWAHB, STBD1, THAP6, UMLILO, USO1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign not provided total
Institute of Human Genetics, University of Leipzig Medical Center 2 2 5 0 0 9
Revvity Omics, Revvity 0 0 8 0 0 8
3billion 1 2 3 1 0 7
SIB Swiss Institute of Bioinformatics 0 7 0 0 0 7
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 3 0 3 0 0 6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 5 0 0 6
OMIM 5 0 0 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 3 0 0 4
MVZ Medizinische Genetik Mainz 0 0 4 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 3 0 0 4
Centre for Medical Genetics, Mumbai 0 0 0 3 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 2 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 1 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 2 0 0 2
Baylor Genetics 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 1 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 1
Laboratoire Génétique Moléculaire, CHRU TOURS 0 0 1 0 0 1
Mendelics 0 0 1 0 0 1
Molecular Genetics Laboratory, Motol Hospital 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 1

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