| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | KCNH1-related disorder +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Generalized hypotonia +7 more | |
| | | Microsatellite (frameshift variant) | not provided +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | MYH9-related disorder +10 more | |
Click to view in NCBI Gene