ClinVar Miner

Variants studied for Weiss-Kruszka syndrome

Coded as:
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Gene type:
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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
30 16 37 2 5 88

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ZNF462 29 14 35 2 5 83
LOC340512, ZNF462 0 2 2 0 0 4
ABCA1, ACTL7A, ACTL7B, CT70, CYLC2, ELP1, FKTN, FSD1L, KLF4, LINC01492, LINC01505, LINC01509, LINC03094, LOC105376194, LOC105376196, LOC111365148, LOC111365191, LOC111429628, LOC121331340, LOC121331341, LOC121331342, LOC121811714, LOC124310619, LOC126860707, LOC126860708, LOC126860709, LOC126860710, LOC126860711, LOC126860712, LOC126860713, LOC126860714, LOC126860715, LOC126860716, LOC126860717, LOC126860718, LOC126860719, LOC126860720, LOC126860721, LOC126860722, LOC126860723, LOC128772340, LOC128822931, LOC129390104, LOC129390105, LOC129390106, LOC130002266, LOC130002267, LOC130002268, LOC130002269, LOC130002270, LOC130002271, LOC130002272, LOC130002273, LOC130002274, LOC130002275, LOC130002276, LOC130002277, LOC130002278, LOC130002279, LOC130002280, LOC130002281, LOC130002282, LOC130002283, LOC130002284, LOC130002285, LOC130002286, LOC130002287, LOC130002288, LOC130002289, LOC130002290, LOC130002291, LOC130002292, LOC130002293, LOC130002294, LOC130002295, LOC130002296, LOC130002297, LOC130002298, LOC130002299, LOC130002300, LOC130002301, LOC130002302, LOC130002303, LOC130002304, LOC130002305, LOC132089618, LOC132089619, LOC132089620, LOC132089621, LOC132089622, LOC132090796, LOC340512, MIR8081, NIPSNAP3A, NIPSNAP3B, OR13C2, OR13C3, OR13C4, OR13C5, OR13C8, OR13C9, OR13D1, OR13F1, RAD23B, SLC44A1, SMC2, SMC2-DT, TAL2, TMEM38B, ZNF462 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Imagine Institute 7 0 2 0 0 9
New York Genome Center 0 0 8 0 0 8
OMIM 7 0 0 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 5 0 0 7
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 2 2 0 0 6
Baylor Genetics 0 1 4 0 0 5
Genome-Nilou Lab 0 0 0 0 5 5
Neuberg Centre For Genomic Medicine, NCGM 0 1 4 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 2 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 3 0 0 0 0 3
Revvity Omics, Revvity 0 0 2 0 0 2
MGZ Medical Genetics Center 1 0 1 0 0 2
Mendelics 1 0 1 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 0 2 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 1 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 1 0 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 1 0 0 0 0 1
Medical Genetics Lab, Xi'an People's Hospital(Xi'an Fourth Hospital) 0 1 0 0 0 1
3billion, Medical Genetics 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 1

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