| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2F +1 more | GPathogenic/Likely pathogenic |
| | ABHD11, ABHD11-AS1
+44 more | Copy number loss | Williams syndrome | |
Click to view in NCBI Gene