| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC126807426, SV2C (W453L) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126807426, SV2C (T482S) | Single nucleotide variant (missense variant) | SV2C-related disorder | |
| | LOC126807426, SV2C (S451Y) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not specified | |
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