| | | Duplication (frameshift variant) | Structural heart defects and renal anomalies syndrome | |
| | | Duplication (frameshift variant) | Structural heart defects and renal anomalies syndrome | |
| | | Single nucleotide variant (nonsense) | Structural heart defects and renal anomalies syndrome | |
| | | Single nucleotide variant (intron variant) | Structural heart defects and renal anomalies syndrome | |
| | LOC130055718, TMEM260 (G25fs) | Deletion (frameshift variant) | Structural heart defects and renal anomalies syndrome | |
| | | Single nucleotide variant (missense variant) | Structural heart defects and renal anomalies syndrome | |
| | | Deletion (frameshift variant) | Structural heart defects and renal anomalies syndrome | |
| | | Single nucleotide variant (missense variant) | Structural heart defects and renal anomalies syndrome | |
| | | Single nucleotide variant (missense variant) | Structural heart defects and renal anomalies syndrome | |
| | | Single nucleotide variant (nonsense) | Structural heart defects and renal anomalies syndrome | |
| | | Deletion (frameshift variant) | Structural heart defects and renal anomalies syndrome | |
| | | Duplication (nonsense) | Structural heart defects and renal anomalies syndrome | |
| | | Single nucleotide variant (intron variant) | Structural heart defects and renal anomalies syndrome | |
| | | Single nucleotide variant (missense variant) | Structural heart defects and renal anomalies syndrome | |
| | | Single nucleotide variant (intron variant) | Structural heart defects and renal anomalies syndrome | |
| | | Single nucleotide variant (intron variant) | Structural heart defects and renal anomalies syndrome | |
| | | Indel (frameshift variant) | Structural heart defects and renal anomalies syndrome +1 more | |
| | | Deletion (splice acceptor variant +1 more) | Structural heart defects and renal anomalies syndrome | |
| | | Single nucleotide variant (missense variant) | Structural heart defects and renal anomalies syndrome | |
| | | Deletion (frameshift variant) | Type I truncus arteriosus | |
| | | Single nucleotide variant (splice donor variant) | Structural heart defects and renal anomalies syndrome | |
| | | Single nucleotide variant (splice donor variant) | Structural heart defects and renal anomalies syndrome | |
| | | Single nucleotide variant (missense variant) | Structural heart defects and renal anomalies syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Structural heart defects and renal anomalies syndrome | |
| | | Single nucleotide variant (missense variant) | Structural heart defects and renal anomalies syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Structural heart defects and renal anomalies syndrome | |
| | | Single nucleotide variant (missense variant) | Structural heart defects and renal anomalies syndrome | |
| | | Single nucleotide variant (missense variant) | Structural heart defects and renal anomalies syndrome | |
| | | Deletion (frameshift variant) | Structural heart defects and renal anomalies syndrome | |
| | | Single nucleotide variant (missense variant) | TMEM260-related disorder +2 more | |
| | | Microsatellite (frameshift variant) | Structural heart defects and renal anomalies syndrome | |
| | | Single nucleotide variant (missense variant) | Structural heart defects and renal anomalies syndrome | |
| | | Deletion (frameshift variant) | Structural heart defects and renal anomalies syndrome | |
| | | Single nucleotide variant (nonsense) | not provided | |