| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal dominant aplasia and myelodysplasia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | SRP72-related disorder | |
| | LOC129992625, SRP72 (V9fs) | Duplication (frameshift variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | SRP72-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
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