| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +5 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (nonsense +1 more) | Charcot-Marie-Tooth disease type 2 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene