ClinVar Miner

Variants from Genetic Endocrinology Unit / Unidade de Endocrinologia Genetica - LIM25, Universidade de Sao Paulo (USP)

Location: Brazil  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
1 2 2 0 0 5

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
DIP2B 0 0 1 1
GNAS 0 1 0 1
PRKG2 1 0 0 1
PTPN11 0 1 0 1
SUZ12 0 0 1 1

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance total
Acromesomelic dysplasia 4 1 0 0 1
Intellectual disability, FRA12A type 0 0 1 1
Proportionate short stature 0 1 0 1
Pseudopseudohypoparathyroidism 0 1 0 1
Weaver syndrome 0 0 1 1

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