| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC121967050, MMEL1
+1 more (G28V) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC121967050, MMEL1
+1 more (R16C) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
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