ClinVar Miner

Variants from Department of Traditional Chinese Medicine, Fujian Provincial Hospital

Location: China  Primary collection method: research
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
20 9 12 0 0 41

Gene and significance breakdown #

Total genes and gene combinations: 34
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
COL4A5 2 1 0 3
CYB5R3 1 0 1 2
GBA1, LOC106627981 1 0 1 2
LDLR 1 1 0 2
NPHS1 1 1 0 2
SCN5A 1 0 1 2
ABCC8 1 0 0 1
ABCG5 1 0 0 1
APC 1 0 0 1
BBS2 0 1 0 1
CASR 1 0 0 1
EHMT1, LOC651337 0 0 1 1
ENG 0 0 1 1
FANCA 1 0 0 1
FANCA, SPIRE2 1 0 0 1
FH 1 0 0 1
FLCN 1 0 0 1
FPGT-TNNI3K, TNNI3K 0 0 1 1
GSN 1 0 0 1
LIPA 0 0 1 1
LZTR1 0 1 0 1
MTHFR 0 0 1 1
NF1 1 0 0 1
NOTCH1 0 1 0 1
PHEX 0 1 0 1
PHEX, PTCHD1 0 1 0 1
PKLR 0 1 0 1
PLOD2 0 0 1 1
POLR3A 0 0 1 1
PROS1 0 0 1 1
SLC12A3 0 0 1 1
SLC7A7 1 0 0 1
SLCO1B1 1 0 0 1
TENM4 1 0 0 1

Condition and significance breakdown #

Total conditions: 35
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Condition pathogenic likely pathogenic uncertain significance total
Alport syndrome 2 1 0 3
Fanconi anemia 2 0 0 2
Gaucher disease type I 1 0 1 2
Hereditary methemoglobinemia 1 0 1 2
Hypercholesterolemia, familial, 1 1 1 0 2
Aortic valve disease 1 0 1 0 1
Atrial conduction disease 0 0 1 1
Bardet-Biedl syndrome 2 0 1 0 1
Birt-Hogg-Dube syndrome 1 0 0 1
Bruck syndrome 2 0 0 1 1
Brugada syndrome 1 0 0 1
Congenital and infantile nephrotic syndrome 0 1 0 1
Familial X-linked hypophosphatemic vitamin D refractory rickets 0 1 0 1
Familial adenomatous polyposis 1 1 0 0 1
Familial hypocalciuric hypercalcemia 1 1 0 0 1
Familial hypokalemia-hypomagnesemia 0 0 1 1
Finnish congenital nephrotic syndrome 1 0 0 1
Hereditary leiomyomatosis and renal cell cancer 1 0 0 1
Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome 0 0 1 1
Kleefstra syndrome 0 0 1 1
Lysinuric protein intolerance 1 0 0 1
Lysosomal acid lipase deficiency 0 0 1 1
Maturity onset diabetes mellitus in young 1 0 0 1
Meretoja syndrome 1 0 0 1
Neurofibromatosis, type 1 1 0 0 1
Progressive familial heart block, type 1A 0 0 1 1
Pyruvate kinase deficiency of red cells 0 1 0 1
Rotor syndrome 1 0 0 1
Schwannomatosis 2 0 1 0 1
Sitosterolemia 1 0 0 1
Telangiectasia, hereditary hemorrhagic, type 1 0 0 1 1
Thrombophilia due to protein S deficiency, autosomal dominant 0 0 1 1
Thrombophilia due to thrombin defect 0 0 1 1
Tremor, hereditary essential, 5 1 0 0 1
Vitamin D-dependent rickets, type 2 0 1 0 1

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