| | KCNK4, KCNK4-CATSPERZ (F183L) | Single nucleotide variant (non-coding transcript variant +1 more) | Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | |
| | | Indel (non-coding transcript variant +1 more) | Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | |
| | KCNK4, KCNK4-CATSPERZ (P322S) | Single nucleotide variant (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) | Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome +2 more | |
| | 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 | |
| | | 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-TEX40 (S228F) | Single nucleotide variant (non-coding transcript variant +1 more) | Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | |
| | KCNK4, KCNK4-CATSPERZ (A244P) | Single nucleotide variant (non-coding transcript variant +1 more) | Generalized hypertrichosis +4 more | |
| | KCNK4, KCNK4-CATSPERZ (A172E) | Single nucleotide variant (non-coding transcript variant +1 more) | Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome +5 more | GPathogenic/Likely pathogenic |