| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (intron variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Deletion (frameshift variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia 1 | |
| | | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Deletion (frameshift variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (nonsense) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia +1 more | |
| | | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Deletion (splice donor variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (intron variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (intron variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (intron variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (intron variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (intron variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (intron variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (inframe_deletion +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | PNKD-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | PNKD-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | Paroxysmal nonkinesigenic dyskinesia 1 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (5 prime UTR variant +1 more) | PNKD-related disorder | |
| | | Single nucleotide variant (missense variant +2 more) | Paroxysmal nonkinesigenic dyskinesia 1 | |
| | | Single nucleotide variant (missense variant +1 more) | PNKD-related disorder | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication | Paroxysmal nonkinesigenic dyskinesia | |
| | | Deletion | Paroxysmal nonkinesigenic dyskinesia | |
| | | Duplication | Paroxysmal nonkinesigenic dyskinesia | |
| | | Deletion | Paroxysmal nonkinesigenic dyskinesia | |