| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant) | Inborn genetic diseases | |
| | ECPAS, LOC130002357 (P53L) | Single nucleotide variant | Inborn genetic diseases | |
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