| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Indel (non-coding transcript variant +1 more) | Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | |
| | KCNK4, KCNK4-CATSPERZ (L146P) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +2 more | |
| | KCNK4, KCNK4-CATSPERZ (P233L) | Single nucleotide variant (non-coding transcript variant +1 more) | Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome +1 more | GConflicting classifications of pathogenicity |
| | KCNK4, KCNK4-CATSPERZ (G254R) | Single nucleotide variant (non-coding transcript variant +1 more) | Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome +1 more | |
| | KCNK4, KCNK4-CATSPERZ (P322S) | Single nucleotide variant (non-coding transcript variant +1 more) | Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | |
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