ClinVar Miner

Variants from Arcensus

Location: Germany  Primary collection method: clinical testing
Minimum submission review status: Collection method:
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Gene type:
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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
23 50 9 0 0 82

Gene and significance breakdown #

Total genes and gene combinations: 41
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
CFTR 4 4 0 8
ATP7B 5 2 0 7
TTN 1 3 2 6
BTD 1 4 0 5
ABCA4 0 3 1 4
GAA 3 1 0 4
LDLR 3 1 0 4
RYR1 0 2 2 4
AGXT 0 2 0 2
COL7A1 0 2 0 2
FBN1 1 1 0 2
KCNQ1 0 2 0 2
MYBPC3 0 2 0 2
PALB2 0 2 0 2
SLC34A1 0 2 0 2
ABCG5, ABCG8 0 1 0 1
ACTC1, GJD2-DT 1 0 0 1
APOB 0 1 0 1
BRCA1, LOC126862571 1 0 0 1
CLCN1 0 0 1 1
COQ8B 0 1 0 1
DNAH5 0 0 1 1
DSP 0 1 0 1
DUOXA2 0 1 0 1
GALK1, ITGB4 0 1 0 1
IMPG1 0 1 0 1
LOC126861443, MFAP5 1 0 0 1
MEFV 1 0 0 1
MSH6 0 1 0 1
MUTYH 0 1 0 1
MYO1H 0 1 0 1
PCSK9 0 1 0 1
RB1 0 1 0 1
SDHB 0 0 1 1
SLC7A9 0 1 0 1
STK11 1 0 0 1
THBD 0 1 0 1
TMEM43 0 1 0 1
TNNT2 0 1 0 1
TSC1 0 0 1 1
VWF 0 1 0 1

Condition and significance breakdown #

Total conditions: 46
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Condition pathogenic likely pathogenic uncertain significance total
Cystic fibrosis 4 4 0 8
Wilson disease 5 2 0 7
Biotinidase deficiency 1 4 0 5
Glycogen storage disease, type II 3 1 0 4
Hypercholesterolemia, familial, 1 3 1 0 4
Desmin-related myofibrillar myopathy 1 2 0 3
Malignant hyperthermia, susceptibility to, 1 0 2 1 3
Severe early-childhood-onset retinal dystrophy 0 2 1 3
Autosomal recessive limb-girdle muscular dystrophy type 2J 0 0 2 2
Familial cancer of breast 0 2 0 2
Hypertrophic cardiomyopathy 4 0 2 0 2
Long QT syndrome 1 0 2 0 2
Marfan syndrome 1 1 0 2
Primary hyperoxaluria, type I 0 2 0 2
Recessive dystrophic epidermolysis bullosa 0 2 0 2
Age related macular degeneration 2 0 1 0 1
Aortic aneurysm, familial thoracic 9 1 0 0 1
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 0 1 0 1
Arrhythmogenic right ventricular dysplasia 5 0 1 0 1
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly 0 1 0 1
Breast-ovarian cancer, familial, susceptibility to, 1 1 0 0 1
Central core myopathy 0 0 1 1
Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction 0 1 0 1
Congenital myotonia, autosomal recessive form 0 0 1 1
Cystinuria 0 1 0 1
Dilated cardiomyopathy 1D 0 1 0 1
Dilated cardiomyopathy 1G 0 1 0 1
Dilated cardiomyopathy 1R 1 0 0 1
Epidermolysis bullosa, junctional 5A, intermediate 0 1 0 1
Familial Mediterranean fever 1 0 0 1
Familial adenomatous polyposis 2 0 1 0 1
Fanconi renotubular syndrome 2 0 1 0 1
Hypercholesterolemia, autosomal dominant, 3 0 1 0 1
Hypercholesterolemia, autosomal dominant, type B 0 1 0 1
Hypophosphatemic nephrolithiasis/osteoporosis 1 0 1 0 1
Lynch syndrome 5 0 1 0 1
Mitochondrial complex 2 deficiency, nuclear type 4 0 0 1 1
Nephrotic syndrome, type 9 0 1 0 1
Peutz-Jeghers syndrome 1 0 0 1
Primary ciliary dyskinesia 3 0 0 1 1
Retinoblastoma 0 1 0 1
Sitosterolemia 1 0 1 0 1
Thyroglobulin synthesis defect 0 1 0 1
Tuberous sclerosis 1 0 0 1 1
Vitelliform macular dystrophy 4 0 1 0 1
von Willebrand disease type 1 0 1 0 1

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