| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Hyperekplexia 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary hyperekplexia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hyperekplexia 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Hyperekplexia 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hyperekplexia 1 +3 more | |
| | | Single nucleotide variant (missense variant) | Hyperekplexia 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C +1 more | |
| | | Single nucleotide variant (synonymous variant) | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C +2 more | |
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