ClinVar Miner

Variants studied for Failure to thrive; Weight loss; Feeding difficulties; Growth delay; Brachycephaly; Deeply set eye; Pointed chin; Narrow mouth; Agitation; Nephrolithiasis; Poor eye contact; Panhypopituitarism; Lower limb spasticity; Generalized myoclonic seizures; Episodic abdominal pain; Limb joint contracture; Upper limb spasticity; Prominent forehead; Severe global developmental delay; Decreased activity of mitochondrial complex III; Flat midface

Coded as:
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 0 0 0 0 1

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic total
​intergenic 1 1

Submitter and significance breakdown #

Total submitters: 1
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Submitter pathogenic total
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 1 1

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