| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC105371814, LOC130061100
+1 more (V27G) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC105371814, LOC130061100
+1 more (G32S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC105371814, LOC130061100
+1 more (A48V) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC105371814, LOC130061100
+1 more (G57A) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC105371814, LOC130061100
+1 more (H82R) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
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