| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Duplication | Shprintzen-Goldberg syndrome | |
| | | Single nucleotide variant (missense variant) | Shprintzen-Goldberg syndrome | |
| | | Single nucleotide variant (missense variant) | Shprintzen-Goldberg syndrome | |
| | | Single nucleotide variant (missense variant) | Shprintzen-Goldberg syndrome | |
| | | Single nucleotide variant (missense variant) | Shprintzen-Goldberg syndrome | |
| | | Duplication (inframe_insertion) | Shprintzen-Goldberg syndrome | |
| | | Single nucleotide variant (missense variant) | Shprintzen-Goldberg syndrome | |
| | | Duplication (frameshift variant) | not provided | |
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