Overview of structural polymorphisms and rare single nucleotide variants identified in six out of 230 patients with tetralogy of Fallot
| n | % | Gene/locus | Mutation/aberration | Phenotype |
| 3 | 1.3 | Structural polymorphisms | 45,XX,der(13;14)(q10;q10)pat Uniparental disomies 13 and 14 excluded | Height/weight <P3, mental retardation, Dandy–Walker cyst, hydrocephalus, omphalocele, juxtaductal coarctation |
| inv(2)(p11.2q13) | Typical ToF | |||
| inv(9)(p12q13) | Typical ToF | |||
| 2 | 0.9 | NKX2.5 | C270Y, absent in controls, parents not tested | Horseshoe kidney, mild pectus carinatus, MAPCA from the descending aorta, RAA without SAA |
| V315L, absent in controls, parents not tested | Obesity, aberrant subclavian artery | |||
| 1 | 0.4 | TBX1 | P290S inherited from healthy father | Absent PV, frequent infections |
RAA, right aortic arch; SAA, subclavian artery anomaly; ToF, tetralogy of Fallot.