| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (no sequence alteration) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome 2 +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
Click to view in NCBI Gene