| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Linear skin defects with multiple congenital anomalies 3 | |
| | LOC130068208, NDUFB11
+1 more (S6P) | Single nucleotide variant (5 prime UTR variant +1 more) | RBM10-related disorder +1 more | |
| | RBM10, LOC130068208
+1 more | Single nucleotide variant (5 prime UTR variant) | not provided | |
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