| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | TMEM276-ZFTRAF1, ZFTRAF1 (H159Y +3 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | TMEM276-ZFTRAF1, ZFTRAF1 (R186C +3 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | TMEM276-ZFTRAF1, ZFTRAF1 (F6S +3 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | TMEM276, TMEM276-ZFTRAF1
+1 more (P74S) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
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