| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LRRC52, LRRC52-AS1 (R233Q) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LRRC52, LRRC52-AS1 (A258V) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LRRC52, LRRC52-AS1 (S305L) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LRRC52, LRRC52-AS1 (A258T) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LRRC52-AS1, LRRC52 (R297W) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LRRC52, LRRC52-AS1 (R277C) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
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