| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ELSPBP1, LOC126862920 (P132T) | Single nucleotide variant (missense variant) | not specified | |
| | ELSPBP1, LOC126862920 (V140L) | Single nucleotide variant (missense variant) | not specified | |
| | ELSPBP1, LOC126862920 (N149K) | Single nucleotide variant (missense variant) | not specified | |
| | ELSPBP1, LOC126862920 (W165R) | Single nucleotide variant (missense variant) | not specified | |
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