ClinVar Miner

Variants from Institute of Human Genetics,University of Wuerzburg

Location: Germany — 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
24 33 31 0 0 88

Gene and significance breakdown #

Total genes and gene combinations: 46
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
ALPL 1 5 9 15
SMCHD1 0 4 3 7
DMD 1 4 0 5
NF1 2 0 2 4
ATM 2 0 1 3
BRCA2 2 0 1 3
RYR1 0 2 1 3
ANO5 0 2 0 2
DYSF 1 0 1 2
FLNC 0 1 1 2
LOC105371049, PKD1 1 1 0 2
MSH6 2 0 0 2
PIEZO2 0 0 2 2
PKD1 1 0 1 2
PTEN 2 0 0 2
TWIST1 0 0 2 2
ASTN2, TRIM32 1 0 0 1
BRCA1 0 0 1 1
CACNA1A 0 0 1 1
CDH1 0 0 1 1
COX6A1 0 1 0 1
DSP 0 1 0 1
F9 1 0 0 1
GAA 1 0 0 1
GCH1 1 0 0 1
GMPPB 0 1 0 1
GRM1 0 0 1 1
HINT1 0 1 0 1
INCA1, KIF1C 0 1 0 1
KCNQ1 0 1 0 1
KIF5A 0 0 1 1
KMT2A 1 0 0 1
LAMA2 0 1 0 1
LARP7 0 1 0 1
LMNA 0 1 0 1
LRP5 0 1 0 1
MHRT, MYH7 0 1 0 1
MLH1 1 0 0 1
MSH2 1 0 0 1
MYH7 0 1 0 1
PALB2 1 0 0 1
PTCH1 0 0 1 1
SERPING1 0 1 0 1
TCAP 1 0 0 1
TCF12 0 1 0 1
ZFYVE27 0 0 1 1

Condition and significance breakdown #

Total conditions: 40
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Condition pathogenic likely pathogenic uncertain significance total
Low alkaline phosphatase 1 5 9 15
Elevated serum creatine phosphokinase 4 7 0 11
Scapulohumeral muscular dystrophy 0 4 3 7
Breast carcinoma 1 0 3 4
Polycystic kidney dysplasia 2 1 1 4
Coronal craniosynostosis 0 1 2 3
Colon cancer 2 0 0 2
Congenital contracture 0 0 2 2
Hereditary nonpolyposis colorectal carcinoma 2 0 0 2
Intellectual disability 1 1 0 2
Malignant hyperthermia 0 1 1 2
Multiple cafe-au-lait spots 0 0 2 2
Neoplasm 2 0 0 2
Neoplasm of ovary 1 0 1 2
Primary dilated cardiomyopathy 0 2 0 2
Spastic paraplegia 0 0 2 2
Angioedema 0 1 0 1
Basal cell carcinoma 0 0 1 1
Cardiomyopathy 0 1 0 1
Cerebellar ataxia 0 0 1 1
Congenital muscular dystrophy 0 1 0 1
Distal muscle weakness 0 1 0 1
Dystonia 1 0 0 1
Episodic ataxia 0 0 1 1
Follicular thyroid carcinoma 1 0 0 1
Left ventricular noncompaction 0 1 0 1
Muscle weakness 0 0 1 1
Muscular hypotonia 0 1 0 1
Neoplasm of the breast 1 0 0 1
Neurofibromas 1 0 0 1
Peripheral neuropathy 0 1 0 1
Prolonged QT interval 0 1 0 1
Proximal muscle weakness 1 0 0 1
Reduced factor IX activity 1 0 0 1
Sensory axonal neuropathy 0 1 0 1
Spastic ataxia 0 1 0 1
Spinal neurofibromas 1 0 0 1
Vitreoretinopathy 0 1 0 1
not provided 1 0 0 1
not specified 0 0 1 1

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