ClinVar Miner

Variants studied for Ehlers-Danlos syndrome progeroid type

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
8 0 60 2 4 3 71

Gene and significance breakdown #

Total genes and gene combinations: 4
Download table as spreadsheet
Gene or gene combination pathogenic uncertain significance likely benign benign not provided total
B4GALT7 8 54 2 4 3 65
B4GALT7, LOC129995400 0 4 0 0 0 4
B4GALT7, CLK4, COL23A1, FAM153A, GRM6, HNRNPAB, N4BP3, NHP2, PHYKPL, PROP1, RMND5B, ZFP2, ZNF354A, ZNF354B, ZNF454 0 1 0 0 0 1
B4GALT7, DBN1, DDX41, DOK3, EIF4E1B, F12, FAM153A, FAM193B, FGFR4, GRK6, HK3, LMAN2, MXD3, NSD1, PDLIM7, PFN3, PRELID1, PROP1, PRR7, RAB24, RGS14, SLC34A1, SNCB, TMED9, TSPAN17, UIMC1, UNC5A, ZNF346 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 13
Download table as spreadsheet
Submitter pathogenic uncertain significance likely benign benign not provided total
Invitae 0 57 1 0 0 58
OMIM 7 0 0 0 0 7
Genome-Nilou Lab 0 0 0 4 0 4
GenomeConnect, ClinGen 0 0 0 0 3 3
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 2 0 3
Baylor Genetics 0 2 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 0 2
Mendelics 0 0 0 1 0 1
Fulgent Genetics, Fulgent Genetics 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 0 0 1
Division of Biology and Genetics, University of Brescia 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.