| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | TMEM147, TMEM147-AS1 (Q46P) | Single nucleotide variant (non-coding transcript variant +2 more) | Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly | |
| | | Single nucleotide variant (splice acceptor variant) | Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly | |
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