| | | Single nucleotide variant (3 prime UTR variant +1 more) | Developmental and epileptic encephalopathy, 42 +1 more | |
| | | Deletion (3 prime UTR variant +1 more) | Developmental and epileptic encephalopathy, 42 | |
| | | Single nucleotide variant (missense variant) | Episodic ataxia type 2 +4 more | |
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy, 42 | |
| | | Single nucleotide variant (missense variant) | Episodic ataxia type 2 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Spinocerebellar ataxia type 6 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 42 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Episodic ataxia type 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 42 +1 more | |
| | | Single nucleotide variant (missense variant) | Episodic ataxia type 2 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Episodic ataxia type 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Episodic ataxia type 2 +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 42 | |