| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Seizure +5 more | |
| | KCNK4, KCNK4-CATSPERZ (A172E) | Single nucleotide variant (non-coding transcript variant +1 more) | Abnormal facial shape +5 more | GPathogenic/Likely pathogenic |
| | KCNK4, KCNK4-CATSPERZ (A244P) | Single nucleotide variant (non-coding transcript variant +1 more) | Abnormal facial shape +4 more | |
| | | Single nucleotide variant (missense variant) | Hypotonia +6 more | |
| | | Single nucleotide variant (missense variant) | Seizure +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene