| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant +1 more) | SGMS2-related disorder +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | SGMS2-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | SGMS2-related disorder +1 more | |
| | CYP2U1-AS1, SGMS2 (R180Q +1 more) | Single nucleotide variant (missense variant +1 more) | SGMS2-related disorder | |
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