| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | 3MC syndrome 1 +2 more | |
| | | Single nucleotide variant (intron variant) | 3MC syndrome 1 +1 more | |
Click to view in NCBI Gene