ClinVar Miner

Variants from Clinical Genetics Laboratory, Region Ostergotland

Location: Sweden  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
37 36 1 0 0 74

Gene and significance breakdown #

Total genes and gene combinations: 37
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
MYBPC3 7 4 0 11
KCNQ1 6 4 0 10
TTN 1 5 0 6
FBN1 1 3 0 4
LDLR 1 3 0 4
MYH7 3 1 0 4
ACADVL 2 0 0 2
APOB 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
BAG3 0 1 0 1
CACNA1C 0 1 0 1
CASR 0 1 0 1
CBS 1 0 0 1
COL5A1 0 1 0 1
FLNC 0 0 1 1
FTL 0 1 0 1
KCNH2 0 1 0 1
KCNJ2 1 0 0 1
LMNA 1 0 0 1
LOC126861898, MYH7 0 1 0 1
NF1 1 0 0 1
PAX6 1 0 0 1
PKD1 1 0 0 1
SCLT1 0 1 0 1
SCN5A 0 1 0 1
SDHA 1 0 0 1
SERPINC1 1 0 0 1
SGCA 0 1 0 1
SLC20A2 0 1 0 1
SMAD3 0 1 0 1
TFAP2B 0 1 0 1
TGFB3 1 0 0 1
TNNI3 0 1 0 1
TNXB 1 0 0 1

Condition and significance breakdown #

Total conditions: 39
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Condition pathogenic likely pathogenic uncertain significance total
Hypertrophic cardiomyopathy 4 7 4 0 11
Long QT syndrome 1 6 3 0 9
Dilated cardiomyopathy 1G 1 3 0 4
Hypercholesterolemia, familial, 1 1 3 0 4
Hypertrophic cardiomyopathy 1 2 2 0 4
Marfan syndrome 1 3 0 4
Cardiomyopathy 2 0 1 3
Dilated cardiomyopathy 1A 1 1 0 2
Hypercholesterolemia, autosomal dominant, type B 2 0 0 2
Noonan syndrome 1 2 0 0 2
Andersen Tawil syndrome 1 0 0 1
Aneurysm-osteoarthritis syndrome 0 1 0 1
Aniridia 1 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2D 0 1 0 1
Bardet-Biedl syndrome 0 1 0 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 1HH 0 1 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
Familial hypocalciuric hypercalcemia 1 0 1 0 1
Hereditary antithrombin deficiency 1 0 0 1
Hereditary hyperferritinemia with congenital cataracts 0 1 0 1
Hypertrophic cardiomyopathy 7 0 1 0 1
Idiopathic basal ganglia calcification 1 0 1 0 1
Jervell and Lange-Nielsen syndrome 1 0 1 0 1
Long QT syndrome 2 0 1 0 1
Long qt syndrome 8 0 1 0 1
Neurofibromatosis, type 1 1 0 0 1
Non-compaction cardiomyopathy 0 1 0 1
Paragangliomas 5 1 0 0 1
Polycystic kidney disease, adult type 1 0 0 1
Rienhoff syndrome 1 0 0 1
Very long chain acyl-CoA dehydrogenase deficiency 1 0 0 1

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