| | | Deletion (frameshift variant) | Structural heart defects and renal anomalies syndrome | |
| | | Duplication (inframe_insertion) | Structural heart defects and renal anomalies syndrome | |
| | | Duplication (splice donor variant) | Structural heart defects and renal anomalies syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | LOC130055718, TMEM260 (L20P) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130055718, TMEM260 (G25fs) | Deletion (frameshift variant) | Structural heart defects and renal anomalies syndrome | |
| | | Copy number loss | not specified | |
| | LOC130055718, TMEM260 (P46T) | Single nucleotide variant (missense variant) | TMEM260-related disorder | |
| | | Deletion (frameshift variant) | Structural heart defects and renal anomalies syndrome | |
| | LOC130055718, TMEM260 (V36A) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130055718, TMEM260 (V39A) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130055718, TMEM260 (A31P) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130055718, TMEM260 (S53F) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Structural heart defects and renal anomalies syndrome | |
| | | Single nucleotide variant (missense variant) | Structural heart defects and renal anomalies syndrome | |
| | LOC130055718, TMEM260 (A35T) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130055718, TMEM260 (P45S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Structural heart defects and renal anomalies syndrome | |
| | | Deletion (frameshift variant) | Structural heart defects and renal anomalies syndrome | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | LOC130055718, TMEM260 (Q12fs) | Deletion (frameshift variant) | not provided | |
| | | Duplication (frameshift variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion (frameshift variant) | Structural heart defects and renal anomalies syndrome | |
| | LOC130055718, TMEM260 (V39E) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | GConflicting classifications of pathogenicity |
| | | Copy number loss | not provided | |