| | | Duplication | Episodic ataxia type 1 | |
| | KCNA1, LOC130007218 (A12P) | Single nucleotide variant (missense variant) | Episodic ataxia type 1 | |
| | | Single nucleotide variant (missense variant) | Episodic ataxia type 1 | |
| | KCNA1, LOC130007218 (A14S) | Single nucleotide variant (missense variant) | Episodic ataxia type 1 | |
| | | Single nucleotide variant (missense variant) | Episodic ataxia type 1 | |
| | | Single nucleotide variant (missense variant) | Episodic ataxia type 1 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KCNA1, LOC130007218 (D10E) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Episodic ataxia type 1 | |
| | | Single nucleotide variant (missense variant) | Episodic ataxia type 1 | |
| | KCNA1, LOC130007218 (E11*) | Single nucleotide variant (nonsense) | Episodic ataxia type 1 | |
| | KCNA1, LOC130007218 (A15V) | Single nucleotide variant (missense variant) | Episodic ataxia type 1 | |
| | | Single nucleotide variant (synonymous variant) | Episodic ataxia type 1 | |
| | KCNA1, LOC130007218 (A15T) | Single nucleotide variant (missense variant) | Episodic ataxia type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Episodic ataxia type 1 | |
| | | Single nucleotide variant (missense variant) | Episodic ataxia type 1 | |
| | | Single nucleotide variant (missense variant) | Episodic ataxia type 1 | |
| | | Single nucleotide variant (synonymous variant) | Episodic ataxia type 1 | |
| | LOC130007218, KCNA1 (A12V) | Single nucleotide variant (missense variant) | Episodic ataxia type 1 | |
| | | Single nucleotide variant (missense variant) | Episodic ataxia type 1 | |
| | KCNA1, LOC130007218 (S13*) | Single nucleotide variant (nonsense) | Episodic ataxia type 1 | |
| | KCNA1, LOC130007218 (H18fs) | Duplication (frameshift variant) | not provided | |
| | KCNA1, LOC130007218 (S13L) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Episodic ataxia type 1 | |
| | | Single nucleotide variant (synonymous variant) | Episodic ataxia type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Episodic ataxia type 1 | |
| | KCNA1, LOC130007218 (A15S) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Episodic ataxia type 1 | |
| | | Single nucleotide variant (missense variant) | Episodic ataxia type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Episodic ataxia type 1 | |
| | | Single nucleotide variant (synonymous variant) | Episodic ataxia type 1 | |
| | | Single nucleotide variant (synonymous variant) | Episodic ataxia type 1 | |
| | KCNA1, LOC130007218 (D10E) | Single nucleotide variant (missense variant) | Episodic ataxia type 1 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Episodic ataxia type 1 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Episodic ataxia type 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Episodic ataxia type 1 | |