| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome | |
| | | Single nucleotide variant (missense variant) | Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome | |
| | | Single nucleotide variant (missense variant) | Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome +2 more | |
Click to view in NCBI Gene