| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (inframe_deletion) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | ALG6-related condition +2 more | |
Click to view in NCBI Gene