ClinVar Miner

Variants from Department of Paediatric Medicine, Post Graduation Institute of Medical Education and Research

Location: India  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
2 2 1 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
AFF4 0 0 1 1
ARID1B 1 0 0 1
CREBBP 1 0 0 1
LOC126807619, NSD1 0 1 0 1
WNT1 0 1 0 1

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance total
Coffin-Siris syndrome 1 0 0 1
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 0 0 1 1
Osteogenesis imperfecta type 15 0 1 0 1
Rubinstein-Taybi syndrome due to CREBBP mutations 1 0 0 1
Sotos syndrome 0 1 0 1

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