| | | Deletion | Lowe syndrome | |
| | | Deletion | Lowe syndrome | |
| | | Single nucleotide variant (nonsense) | Lowe syndrome | |
| | | Copy number loss | not specified | |
| | | Deletion (splice acceptor variant) | Lowe syndrome | |
| | | Single nucleotide variant (synonymous variant) | Lowe syndrome | |
| | | Single nucleotide variant (missense variant) | Lowe syndrome | |
| | | Single nucleotide variant (missense variant) | Lowe syndrome | |
| | | Single nucleotide variant (synonymous variant) | Lowe syndrome | |
| | | Single nucleotide variant (synonymous variant) | Lowe syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Lowe syndrome | |
| | | Single nucleotide variant (synonymous variant) | Lowe syndrome | |
| | | Single nucleotide variant (missense variant) | Lowe syndrome | |
| | | Single nucleotide variant (missense variant) | Lowe syndrome | |
| | | Deletion (frameshift variant) | not provided | |
| | | Deletion | Developmental cataract | |
| | | Duplication (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Intellectual disability | |
| | | Single nucleotide variant (missense variant) | Lowe syndrome +2 more | |
| | | Insertion | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (splice donor variant) | Dent disease type 2 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number gain | See cases | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Lowe syndrome | |
| | | Deletion | Lowe syndrome | |
| | | Deletion | Lowe syndrome | |
| | | Deletion | Lowe syndrome | |
| | | Deletion | Dent disease type 2 | |
| | | Deletion | Dent disease type 2 | |
| | | Deletion | Lowe syndrome | |
| | | Deletion | Lowe syndrome | |
| | | Variation | Lowe syndrome | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant) | Lowe syndrome | |
| | | Single nucleotide variant (missense variant) | Lowe syndrome | |
| | | Single nucleotide variant (missense variant) | Lowe syndrome | |
| | | Single nucleotide variant (missense variant) | Lowe syndrome | |
| | | Single nucleotide variant (missense variant) | Lowe syndrome | |
| | | Single nucleotide variant (missense variant) | Lowe syndrome | |
| | | Single nucleotide variant (missense variant) | Lowe syndrome | |
| | | Single nucleotide variant (missense variant) | Lowe syndrome | |
| | | Single nucleotide variant (missense variant) | Lowe syndrome | |
| | | Single nucleotide variant (missense variant) | Lowe syndrome | |
| | | Single nucleotide variant (missense variant) | Lowe syndrome | |
| | | Single nucleotide variant (missense variant) | Lowe syndrome | |
| | | Single nucleotide variant (missense variant) | Lowe syndrome | |
| | | Single nucleotide variant (missense variant) | Lowe syndrome | |
| | | Single nucleotide variant (missense variant) | Lowe syndrome | |
| | | Single nucleotide variant (missense variant) | Lowe syndrome | |
| | | Single nucleotide variant (missense variant) | Lowe syndrome | |
| | | Single nucleotide variant (missense variant) | Lowe syndrome | |
| | | Single nucleotide variant (missense variant) | Lowe syndrome | |
| | | Single nucleotide variant (missense variant) | Lowe syndrome | |
| | | Single nucleotide variant (missense variant) | Lowe syndrome | |
| | | Single nucleotide variant (missense variant) | Lowe syndrome | |
| | | Single nucleotide variant (missense variant) | Lowe syndrome | |
| | | Single nucleotide variant (missense variant) | Lowe syndrome | |
| | | Single nucleotide variant (missense variant) | Dent disease type 2 | |
| | | Deletion (splice acceptor variant +1 more) | Lowe syndrome | |