| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | GPHN, TMEM229B (H207R +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | GPHN, TMEM229B (L201P +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | GPHN, TMEM229B (G155D +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | GPHN, TMEM229B (Q133H +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | GPHN, TMEM229B (P123L +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | GPHN, TMEM229B (L118P +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | GPHN, TMEM229B (I160M +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | GPHN, TMEM229B (R114S +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not specified | |
| | | Copy number gain | 14q22.2q24.3 duplication | |
| | | Duplication | Leber congenital amaurosis 13 | |
| | TMEM229B, PLEKHH1 +13 more | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
Click to view in NCBI Gene