| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Ritscher-Schinzel syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified | |
| | | Single nucleotide variant (intron variant) | Intellectual disability | |
| | | Single nucleotide variant (3 prime UTR variant) | Insulin-dependent diabetes mellitus secretory diarrhea syndrome | |
Click to view in NCBI Gene