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
55 17 1052 353 110 2 1501

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CNTNAP2 31 9 531 173 66 2 757
NRXN1 16 8 514 180 43 0 729
C7orf33, CNTNAP2, CUL1, EZH2 2 0 2 0 0 0 4
CNTNAP2, MIR548F4 3 0 0 0 0 0 3
LOC110121071, NRXN1 0 0 3 0 0 0 3
LOC110121071, MIR8485, NRXN1 2 0 0 0 0 0 2
LOC114827832, NRXN1 0 0 1 0 1 0 2
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

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 37 11 710 308 50 0 1116
Illumina Clinical Services Laboratory,Illumina 0 0 350 48 77 0 457
Fulgent Genetics,Fulgent Genetics 0 0 37 0 0 0 37
Baylor Genetics 1 0 26 0 0 0 27
OMIM 14 0 0 0 0 0 14
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 9 0 0 0 9
Athena Diagnostics Inc 0 0 0 0 7 0 7
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 3 1 0 0 5
Mendelics 1 0 0 0 3 0 4
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
GenomeConnect, ClinGen 0 0 0 0 0 2 2
New York Genome Center 0 1 1 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
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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Breda Genetics srl 0 1 0 0 0 0 1

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