Variants studied for Nizon-Isidor syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
4	11	36	0	6	56

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	benign	total
MED12L	1	7	26	1	35
MED12L, P2RY12	2	4	10	5	20
FKRP	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 27

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	total
Revvity Omics, Revvity	0	0	7	0	7
New York Genome Center	0	0	7	0	7
Genome-Nilou Lab	0	0	0	6	6
OMIM	3	0	0	0	3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	0	3	0	3
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center	0	0	3	0	3
Neuberg Centre For Genomic Medicine, NCGM	0	0	3	0	3
Baylor Genetics	0	1	1	0	2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	2	0	0	2
MGZ Medical Genetics Center	0	0	2	0	2
Genetics and Molecular Pathology, SA Pathology	0	1	1	0	2
Institute of Human Genetics, University of Leipzig Medical Center	0	2	0	0	2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	1	0	1	0	2
Centogene AG - the Rare Disease Company	0	0	1	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	0	1	0	1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen	0	1	0	0	1
Institute of Human Genetics, University Hospital of Duesseldorf	0	1	0	0	1
Human Genetics Unit, University Of Colombo	0	1	0	0	1
Undiagnosed Diseases Network, NIH	0	0	1	0	1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	0	1	0	0	1
Breda Genetics srl	0	0	1	0	1
Clinical Genomics Laboratory, Stanford Medicine	0	0	1	0	1
3billion, Medical Genetics	0	1	0	0	1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	0	0	1	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	0	1	0	1
Royal Medical Services, Bahrain Defence Force Hospital	0	0	1	0	1

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