| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129935343, LOC129935344 +1687 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129935480, LOC129935481 +1299 more | Copy number gain | See cases | |
| | LOC129935841, LOC129935842 +1148 more | Copy number gain | See cases | |
| | LOC129935871, LOC129935872 +986 more | Copy number gain | See cases | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | Paroxysmal nonkinesigenic dyskinesia 1 +1 more | |
| | | Single nucleotide variant | Paroxysmal nonkinesigenic dyskinesia 1 | |
| | | Single nucleotide variant | Paroxysmal nonkinesigenic dyskinesia 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Paroxysmal nonkinesigenic dyskinesia 1 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | 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) | not provided | |
| | | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia +1 more | |
| | | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | Paroxysmal nonkinesigenic dyskinesia 1 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia +2 more | GPathogenic/Likely pathogenic |
| | | 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 | |
| | LOC129935594, PNKD (A15fs) | Duplication (frameshift variant) | Paroxysmal nonkinesigenic dyskinesia +1 more | |
| | | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia 1 +1 more | |
| | | 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 (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | LOC129935594, PNKD (N17fs) | Deletion (frameshift variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | LOC129935594, PNKD (R19fs) | Duplication (frameshift 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 | |
| | | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia +1 more | |
| | | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (splice donor variant) | Paroxysmal nonkinesigenic dyskinesia 1 +1 more | |
| | | 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 | |
| | | 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) | Paroxysmal nonkinesigenic dyskinesia +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) | Inborn genetic diseases +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 | |
| | | 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 | |