| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | IQSEC3-related disorder | |
| | | Single nucleotide variant (missense variant) | IQSEC3-related disorder | |
| | IQSEC3, IQSEC3-AS1 (T754I) | Single nucleotide variant (missense variant +1 more) | IQSEC3-related disorder | |
Click to view in NCBI Gene