ClinVar Miner

Variants from Institute of Human Genetics, Medical University Innsbruck

Location: Austria  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
79 13 27 5 26 150

Gene and significance breakdown #

Total genes and gene combinations: 16
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CYP21A2, LOC106780800 4 5 23 5 24 61
BRCA2 21 2 0 0 0 23
BRCA1 16 1 0 0 0 17
C1R 13 0 0 0 0 13
NF1 12 0 0 0 0 12
LDLR 1 4 2 0 0 7
BRCA1, LOC126862571 4 0 0 0 0 4
PMS2 4 0 0 0 0 4
C1S 2 0 0 0 0 2
APOB 0 0 1 0 0 1
C1R, C1RL 1 0 0 0 0 1
CSNK2B 0 1 0 0 0 1
CYP21A2 0 0 0 0 1 1
CYP21A2, LOC106780800, TNXB 0 0 0 0 1 1
LDLRAP1 0 0 1 0 0 1
MSH6 1 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 4 5 23 5 26 63
Breast-ovarian cancer, familial, susceptibility to, 2 21 2 0 0 0 23
Breast-ovarian cancer, familial, susceptibility to, 1 20 1 0 0 0 21
Ehlers-Danlos syndrome, periodontal type 1 16 0 0 0 0 16
Neurofibromatosis, type 1 12 0 0 0 0 12
Hypercholesterolemia, familial, 1 1 4 2 0 0 7
Mismatch repair cancer syndrome 1 5 0 0 0 0 5
Hypercholesterolemia, autosomal dominant, type B 0 0 1 0 0 1
Hypercholesterolemia, familial, 4 0 0 1 0 0 1
Poirier-Bienvenu neurodevelopmental syndrome 0 1 0 0 0 1

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