| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | TMEM147, TMEM147-AS1 (G7R) | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | TMEM147, TMEM147-AS1 (Y21*) | Single nucleotide variant (5 prime UTR variant +1 more) | Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly | |
| | TMEM147, TMEM147-AS1 (K34fs) | Deletion (5 prime UTR variant +1 more) | Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly | |
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