ClinVar Miner

Variants from Institute of Medical Genetics, Medical University of Vienna

Location: Austria  Primary collection method: clinical testing
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
21 5 3 0 1 30

Gene and significance breakdown #

Total genes and gene combinations: 26
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
KMT2D 3 0 0 0 3
FRAS1 2 0 0 0 2
PKD1 0 1 1 0 2
ANOS1 1 0 0 0 1
ATRIP, ATRIP-TREX1, TREX1 1 0 0 0 1
COL1A2 1 0 0 0 1
COL27A1 1 0 0 0 1
COL2A1 1 0 0 0 1
COL4A4 0 1 0 0 1
CUL7 1 0 0 0 1
DCC 1 0 0 0 1
DUOX2 1 0 0 0 1
EXOC3L2 1 0 0 0 1
GLA, RPL36A-HNRNPH2 0 0 0 1 1
GPC3 1 0 0 0 1
GUSB 0 1 0 0 1
GUSB, LOC126860055 1 0 0 0 1
KAT6B 0 1 0 0 1
MN1 1 0 0 0 1
MPDZ 1 0 0 0 1
MYH6 0 0 1 0 1
NEB, RIF1 1 0 0 0 1
SF3B4 1 0 0 0 1
SLC26A2 0 1 0 0 1
TUBA1A 0 0 1 0 1
VANGL1 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 25
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance benign total
Kabuki syndrome 1 3 0 0 0 3
Fraser syndrome 1 2 0 0 0 2
Mucopolysaccharidosis type 7 1 1 0 0 2
Polycystic kidney disease, adult type 0 1 1 0 2
3M syndrome 1 1 0 0 0 1
Aicardi-Goutieres syndrome 1 1 0 0 0 1
Alport syndrome 0 1 0 0 1
CEBALID syndrome 1 0 0 0 1
Diastrophic dysplasia 0 1 0 0 1
Fabry disease 0 0 0 1 1
Genitopatellar syndrome 0 1 0 0 1
Hydrocephalus, nonsyndromic, autosomal recessive 2 1 0 0 0 1
Hypertrophic cardiomyopathy 14 0 0 1 0 1
Hypogonadotropic hypogonadism 1 with or without anosmia 1 0 0 0 1
Lissencephaly due to TUBA1A mutation 0 0 1 0 1
Meckel-Gruber-like syndrome 1 0 0 0 1
Mirror movements 1 1 0 0 0 1
Nager syndrome 1 0 0 0 1
Nemaline myopathy 2 1 0 0 0 1
Osteogenesis imperfecta, perinatal lethal 1 0 0 0 1
Platyspondylic dysplasia, Torrance type 1 0 0 0 1
Sacral defect with anterior meningocele 1 0 0 0 1
Simpson-Golabi-Behmel syndrome type 1 1 0 0 0 1
Steel syndrome 1 0 0 0 1
Thyroid dyshormonogenesis 6 1 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.