| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Microsatellite (inframe_insertion +1 more) | Ectrodactyly and ectodermal dysplasia without cleft lip/palate | |
Click to view in NCBI Gene