ClinVar Miner

Variants studied for Pitt-Hopkins-like syndrome

Included ClinVar conditions (5):
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
145 65 1945 1345 142 6 3516

Gene and significance breakdown #

Total genes and gene combinations: 16
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NRXN1 56 25 1088 720 60 2 1905
CNTNAP2 72 40 817 596 79 4 1522
CNTNAP2, LOC126860216 5 0 26 29 2 0 62
C7orf33, CNTNAP2, CUL1, EZH2 3 0 4 0 0 0 7
CNTNAP2, LOC123956262, LOC129389920 2 0 1 0 0 0 3
LOC110121071, LOC129388861, NRXN1 1 0 2 0 0 0 3
CNTNAP2, MIR548F4 2 0 0 0 0 0 2
FSHR, NRXN1 0 0 2 0 0 0 2
LOC110121071, LOC129388861, MIR8485, NRXN1 2 0 0 0 0 0 2
LOC114827832, NRXN1 0 0 1 0 1 0 2
CNTNAP2, LOC123956262, LOC129389920, MIR548F4 1 0 0 0 0 0 1
CNTNAP2, LOC129999529 0 0 1 0 0 0 1
CNTNAP2, TPK1 1 0 0 0 0 0 1
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

Submitter and significance breakdown #

Total submitters: 41
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 108 42 1588 1295 92 0 3125
Illumina Laboratory Services, Illumina 0 0 350 48 77 0 457
Fulgent Genetics, Fulgent Genetics 2 7 57 9 0 0 75
Revvity Omics, Revvity 3 3 38 1 0 0 45
Baylor Genetics 0 0 26 0 0 0 26
St. Anna Children's Cancer Research Institute (CCRI) 8 3 6 0 0 0 17
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 15 1 0 0 16
OMIM 14 0 0 0 0 0 14
New York Genome Center 0 2 10 0 0 0 12
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 4 0 0 0 0 11
Athena Diagnostics 0 0 0 0 6 0 6
Genome-Nilou Lab 0 0 0 0 6 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 3 1 0 0 5
Mendelics 1 0 0 0 3 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
3billion, Medical Genetics 3 0 1 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 1 3 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 2 0 0 0 3
MGZ Medical Genetics Center 0 0 2 0 0 0 2
Centogene AG - the Rare Disease Company 0 2 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
Genetics and Molecular Pathology, SA Pathology 1 0 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 2 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 0 1
Breda Genetics srl 0 1 0 0 0 0 1
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 0 0 1 1
Molecular Genetics Lab, CHRU Brest 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 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.