| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | EIF2AK3, LOC101928371 (A704S +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Connective tissue disorder +3 more | |
| | | Single nucleotide variant (missense variant) | not specified +5 more | |
Click to view in NCBI Gene