| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Shprintzen-Goldberg syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Shprintzen-Goldberg syndrome | |
| | | Single nucleotide variant (missense variant) | Shprintzen-Goldberg syndrome +1 more | |
| | | Deletion (inframe_deletion) | Shprintzen-Goldberg syndrome | |
| | | Single nucleotide variant (missense variant) | Shprintzen-Goldberg syndrome | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene