ClinVar Miner

Variants studied for ptosis

Included ClinVar conditions (25):
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 total
13 13 11 1 3 41

Gene and significance breakdown #

Total genes and gene combinations: 26
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
COL25A1 4 3 2 0 0 9
ZFHX4 0 0 3 1 3 7
CHRND 0 2 0 0 0 2
​intergenic 1 0 0 0 0 1
AHI1 0 0 1 0 0 1
ANKRD11 0 1 0 0 0 1
ARFGEF1, CSPP1 0 0 1 0 0 1
ARG2, RDH11, RDH12, VTI1B, ZFYVE26 0 0 1 0 0 1
ARHGAP11B, CHRFAM7A, CHRNA7, FAN1, GOLGA8H, GOLGA8J, GOLGA8N, GOLGA8O, KLF13, MIR211, MTMR10, OTUD7A, TRPM1 1 0 0 0 0 1
CHD8 0 1 0 0 0 1
DMD 0 1 0 0 0 1
GLI3 0 1 0 0 0 1
IGHMBP2 1 0 0 0 0 1
MT-ND1 0 0 1 0 0 1
MT-TN 0 1 0 0 0 1
MYH10 1 0 0 0 0 1
OPA1 0 0 1 0 0 1
PTPN11 1 0 0 0 0 1
RAB3GAP1 1 0 0 0 0 1
RYR1 0 1 0 0 0 1
SIL1 1 0 0 0 0 1
SOS1 1 0 0 0 0 1
SYNGAP1 0 1 0 0 0 1
TCF20 1 0 0 0 0 1
TUBA4A, TUBA4B 0 0 1 0 0 1
TUBB6 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 total
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 5 1 0 0 8
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 1 0 1 4
OMIM 3 0 0 0 0 3
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 2 0 0 3
Revvity Omics, Revvity 0 1 1 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 2 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 2 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 1
Harry Perkins Institute Of Medical Research, University Of Western Australia 0 1 0 0 0 1
Charité Universitätsmedizin Berlin, Charite Universitaetsmedizin Berlin 0 1 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 1 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 1 0 0 0 0 1
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 1
Mitochondrial Disorders Lab i+12, Hospital Universitario 12 de Octubre 0 1 0 0 0 1
Human Genetics Department, Tarbiat Modares University 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1

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