| | | Single nucleotide variant (synonymous variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (missense variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (missense variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (synonymous variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (missense variant) | Hyperekplexia 2 | |
| | | Deletion (frameshift variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (missense variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (missense variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (synonymous variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (missense variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (missense variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (missense variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (synonymous variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (missense variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (synonymous variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (synonymous variant) | Hyperekplexia 2 | |
| | | Deletion (frameshift variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (missense variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (missense variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (synonymous variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (missense variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (synonymous variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (missense variant) | Hyperekplexia 2 +1 more | |
| | | Single nucleotide variant (intron variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (intron variant) | Hyperekplexia 2 +1 more | |
| | | Single nucleotide variant (intron variant) | Hyperekplexia 2 | |
| | | Deletion (intron variant) | Hyperekplexia 2 | |
| | | Microsatellite (intron variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (intron variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (splice acceptor variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (missense variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (synonymous variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (synonymous variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (synonymous variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (missense variant) | Hyperekplexia 2 | |
| | | Deletion (inframe_deletion) | Hyperekplexia 2 | |
| | | Single nucleotide variant (missense variant) | Hyperekplexia 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (missense variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (synonymous variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (synonymous variant) | Hyperekplexia 2 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (missense variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (synonymous variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (missense variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (synonymous variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (missense variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (intron variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (intron variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (intron variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (intron variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (intron variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (intron variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (intron variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (intron variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (missense variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (missense variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (missense variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (synonymous variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (missense variant) | Hyperekplexia 2 | |
| | | Indel (missense variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (missense variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (missense variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (splice donor variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (intron variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (intron variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (intron variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (intron variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (intron variant) | Hyperekplexia 2 | |
| | | Duplication (intron variant) | Hyperekplexia 2 | |
| | | Deletion (intron variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (missense variant) | Hyperekplexia 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (missense variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (missense variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (missense variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (missense variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (synonymous variant) | Hyperekplexia 2 | |
| | | Deletion (frameshift variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (synonymous variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (missense variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (synonymous variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (missense variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (missense variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (synonymous variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (missense variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (synonymous variant) | Hyperekplexia 2 | |
| | | Duplication (frameshift variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (synonymous variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (missense variant) | Hyperekplexia 2 | |
| | | Deletion (frameshift variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (missense variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (synonymous variant) | Hyperekplexia 2 | |
| | | Single nucleotide variant (missense variant) | Hyperekplexia 2 | |