| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Autosomal recessive cutis laxa type 2D | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 93 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 93 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 93 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 93 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy 93 | |
Click to view in NCBI Gene