ClinVar Miner

Variants from Embryology Laboratory,Victor Chang Cardiac Research Institute

Location: Australia — 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
8 0 0 0 0 8

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic total
KYNU 3 3
HAAO, MTA3 2 2
PTPN11 1 1
TBX5 1 1
TFAP2B 1 1

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic total
Congenital NAD deficiency disorder 5 5
Char syndrome 1 1
Failure to thrive; Secundum atrial septal defect; Tricuspid regurgitation; Right ventricular hypertrophy; Dysplastic pulmonary valve; Patent ductus arteriosus 1 1
Secundum atrial septal defect; Mitral regurgitation; Ventricular septal defect 1 1

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