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
27 10 1 0 0 38

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
NADSYN1 8 5 0 13
KYNU 6 3 0 9
HAAO 6 0 0 6
C12orf60, WBP11 2 2 1 5
HAAO, LOC129933588 1 0 0 1
PTPN11 1 0 0 1
TBX5 1 0 0 1
TFAP2B 1 0 0 1
WBP11 1 0 0 1

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance total
Congenital NAD deficiency disorder 19 3 0 22
Vertebral, cardiac, renal, and limb defects syndrome 3 4 5 0 9
WBP11 spliceosomopathy 3 2 1 6
Atrial septal defect, ostium secundum type; Mitral regurgitation; Ventricular septal defect 1 0 0 1
Char syndrome 1 0 0 1
Failure to thrive; Atrial septal defect, ostium secundum type; Tricuspid regurgitation; Right ventricular hypertrophy; Dysplastic pulmonary valve; Patent ductus arteriosus 1 0 0 1

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