| | | Duplication | Hereditary hyperekplexia | |
| | | Duplication | Hereditary hyperekplexia | |
| | | Deletion | Hereditary hyperekplexia | |
| | | Deletion | Hereditary hyperekplexia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (synonymous variant) | Hereditary hyperekplexia | |
| | | Deletion (frameshift variant) | Hereditary hyperekplexia | |
| | | Deletion (frameshift variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (missense variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (synonymous variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (synonymous variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (missense variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (missense variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (synonymous variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (missense variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (missense variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (intron variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (intron variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (splice donor variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (missense variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (missense variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (intron variant) | Hereditary hyperekplexia | |
| | | Indel (missense variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (nonsense) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (missense variant) | Hereditary hyperekplexia | |
| | | Microsatellite (intron variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (missense variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (missense variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (synonymous variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (synonymous variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (synonymous variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (intron variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (intron variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (missense variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (intron variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (splice donor variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (intron variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (intron variant) | Hereditary hyperekplexia | |
| | | Duplication (frameshift variant +1 more) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (missense variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (missense variant) | Hereditary hyperekplexia | |
| | | Deletion (frameshift variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (intron variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (intron variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (missense variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (intron variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (missense variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (intron variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (synonymous variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (missense variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (missense variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (intron variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (intron variant) | GLRA1-related disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (intron variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (intron variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (missense variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (missense variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (missense variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (missense variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (missense variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (intron variant) | Hyperekplexia 1 | |
| | | Single nucleotide variant (intron variant) | Hereditary hyperekplexia +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary hyperekplexia +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Hereditary hyperekplexia +1 more | |
| | | Duplication (frameshift variant) | Hyperekplexia 1 | |
| | | Single nucleotide variant (splice acceptor variant) | Hereditary hyperekplexia +1 more | |
| | | Deletion (frameshift variant +1 more) | Hyperekplexia 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Hyperekplexia 1 | |
| | | Duplication | not provided | |
| | | Duplication | Hereditary hyperekplexia | |
| | | Deletion | Hereditary hyperekplexia | |
| | | Deletion | Hereditary hyperekplexia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (synonymous variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (missense variant) | Hereditary hyperekplexia +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (missense variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (missense variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (missense variant) | Hereditary hyperekplexia | |
| | | Microsatellite (inframe_deletion) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (missense variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (synonymous variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (intron variant) | Hereditary hyperekplexia | |
| | | Duplication (frameshift variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (synonymous variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (intron variant) | Hereditary hyperekplexia | |
| | | Single nucleotide variant (synonymous variant) | Hereditary hyperekplexia | |