ClinVar Miner

Variants studied for Pitt-Hopkins-like syndrome 2

Coded as:
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 not provided total
53 19 968 624 59 1 1686

Gene and significance breakdown #

Total genes and gene combinations: 8
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NRXN1 50 19 961 624 58 1 1675
LOC110121071, LOC129388861, NRXN1 1 0 2 0 0 0 3
LOC110121071, LOC129388861, MIR8485, NRXN1 2 0 0 0 0 0 2
LOC114827832, NRXN1 0 0 1 0 1 0 2
FBXO11, FOXN2, FSHR, GTF2A1L, KCNK12, LHCGR, MSH2, MSH2-OT1, MSH6, NRXN1, PPP1R21, STON1, STON1-GTF2A1L 0 0 1 0 0 0 1
FBXO11, FOXN2, FSHR, GTF2A1L, LHCGR, MSH6, NRXN1, PPP1R21, STON1, STON1-GTF2A1L 0 0 1 0 0 0 1
FSHR, LHCGR, NRXN1, STON1-GTF2A1L 0 0 1 0 0 0 1
FSHR, NRXN1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 43 14 834 610 41 0 1542
Illumina Laboratory Services, Illumina 0 0 135 15 27 0 177
Revvity Omics, Revvity 1 3 13 0 0 0 17
Baylor Genetics 0 0 9 0 0 0 9
OMIM 4 0 0 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 1 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 0 2 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 2 0 0 0 2
Undiagnosed Diseases Network, NIH 0 0 2 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 0 1 0 0 0 2
New York Genome Center 0 1 1 0 0 0 2
Mendelics 0 0 0 0 1 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Breda Genetics srl 0 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.