| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (non-coding transcript variant +1 more) | EIF2AK3-related disorder | |
| | EIF2AK3, LOC101928371 (Q611H +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Wolcott-Rallison dysplasia +2 more | |
Click to view in NCBI Gene