| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Indel (inframe_indel) | Martsolf syndrome | |
| | | Single nucleotide variant (missense variant) | Warburg micro syndrome 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Warburg micro syndrome 2 +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene