ClinVar Miner

Variants from Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center

Location: China  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
11 2 0 0 0 13

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic total
FBP1 6 0 6
COG6 2 0 2
MYSM1 2 0 2
TOE1 0 2 2
POC1A 1 0 1

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic total
Fructose-biphosphatase deficiency 6 0 6
Bone marrow failure syndrome 4 2 0 2
COG6-ongenital disorder of glycosylation 2 0 2
Pontocerebellar hypoplasia type 7 0 2 2
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome 1 0 1

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