| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | TMEM276-ZFTRAF1, ZFTRAF1 (I44M +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | TMEM276-ZFTRAF1, ZFTRAF1 (F6S +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | TMEM276-ZFTRAF1, ZFTRAF1 (H159Y +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | TMEM276-ZFTRAF1, ZFTRAF1 (R186C +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | TMEM276-ZFTRAF1, ZFTRAF1 (L258fs +3 more) | Deletion (frameshift variant) | Neurodevelopmental disorder with hypotonia and gross motor and speech delay | |
| | TMEM276-ZFTRAF1, ZFTRAF1 (F232fs +3 more) | Deletion (frameshift variant) | Neurodevelopmental disorder with hypotonia and gross motor and speech delay | |
| | | Single nucleotide variant (splice acceptor variant) | Neurodevelopmental disorder with hypotonia and gross motor and speech delay | |
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