| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | GPHN, TMEM229B (G155D +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | GPHN, TMEM229B (H207R +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | GPHN, TMEM229B (P123L +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | GPHN, TMEM229B (L201P +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | GPHN, TMEM229B (Q133H +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | GPHN, TMEM229B (I160M +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | GPHN, TMEM229B (L118P +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | GPHN, TMEM229B (R114S +1 more) | Single nucleotide variant (missense variant) | not specified | |
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