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
135 48 1854 1183 141 6 3239

Gene and significance breakdown #

Total genes and gene combinations: 16
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NRXN1 50 19 998 628 59 2 1711
CNTNAP2 68 29 818 528 79 4 1443
CNTNAP2, LOC126860216 5 0 26 27 2 0 60
C7orf33, CNTNAP2, CUL1, EZH2 3 0 3 0 0 0 6
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
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
FSHR, NRXN1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 100 32 1501 1134 91 0 2858
Illumina Laboratory Services, Illumina 0 0 350 48 77 0 457
Fulgent Genetics, Fulgent Genetics 0 0 53 8 0 0 61
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 8 0 0 0 10
Athena Diagnostics Inc 0 0 0 0 7 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 3 0 0 0 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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 0 3
3billion 3 0 0 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
Undiagnosed Diseases Network, NIH 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
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
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1

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