| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Deletion | not provided | |
| | | Microsatellite (inframe_deletion) | not provided | |
| | | Single nucleotide variant (missense variant) | Developmental disorder | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy, infantile or early childhood, 3 | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy, infantile or early childhood, 3 | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive cutis laxa type 2D | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive cutis laxa type 2D | |
Click to view in NCBI Gene