ClinVar Miner

Variants from Clinical Genetics Laboratory, Region Ostergotland

Location: Sweden  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
32 24 1 0 0 57

Gene and significance breakdown #

Total genes and gene combinations: 27
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
MYBPC3 7 4 0 11
KCNQ1 5 4 0 9
FBN1 1 3 0 4
MYH7 3 1 0 4
TTN 1 3 0 4
ACADVL 2 0 0 2
HFE 2 0 0 2
PTPN11 2 0 0 2
ACTC1, GJD2-DT 0 1 0 1
ALPK3 0 1 0 1
APOB 1 0 0 1
CACNA1C 0 1 0 1
CBS 1 0 0 1
COL5A1 0 1 0 1
FLNC 0 1 0 1
KCNJ2 1 0 0 1
LDLR 0 1 0 1
LMNA 1 0 0 1
LOC126861898, MYH7 0 1 0 1
NF1 1 0 0 1
PKD1 1 0 0 1
SCN5A 0 1 0 1
SDHA 1 0 0 1
SERPINC1 1 0 0 1
SMAD3 0 0 1 1
TFAP2B 0 1 0 1
TNXB 1 0 0 1

Condition and significance breakdown #

Total conditions: 28
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Condition pathogenic likely pathogenic uncertain significance total
Hypertrophic cardiomyopathy 4 7 4 0 11
Long QT syndrome 1 5 3 0 8
Hypertrophic cardiomyopathy 1 2 2 0 4
Marfan syndrome 1 3 0 4
Cardiomyopathy 2 1 0 3
Dilated cardiomyopathy 1G 1 2 0 3
Dilated cardiomyopathy 1A 1 1 0 2
Noonan syndrome 1 2 0 0 2
Andersen Tawil syndrome 1 0 0 1
Aneurysm-osteoarthritis syndrome 0 0 1 1
Brugada syndrome 1 0 1 0 1
Cardiac arrhythmia 1 0 0 1
Cardiomyopathy, familial hypertrophic 27 0 1 0 1
Char syndrome 0 1 0 1
Classic homocystinuria 1 0 0 1
Dilated cardiomyopathy 1R 0 1 0 1
Dilated cardiomyopathy 1S 1 0 0 1
Ehlers-Danlos syndrome due to tenascin-X deficiency 1 0 0 1
Ehlers-Danlos syndrome, classic type, 1 0 1 0 1
Hereditary antithrombin deficiency 1 0 0 1
Hypercholesterolemia, autosomal dominant, type B 1 0 0 1
Hypercholesterolemia, familial, 1 0 1 0 1
Jervell and Lange-Nielsen syndrome 1 0 1 0 1
Long qt syndrome 8 0 1 0 1
Neurofibromatosis, type 1 1 0 0 1
Paragangliomas 5 1 0 0 1
Polycystic kidney disease, adult type 1 0 0 1
Very long chain acyl-CoA dehydrogenase deficiency 1 0 0 1

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