| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant +1 more) | AFG2B-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (inframe_deletion +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | SPATA5L1-associated disorder +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene