| | | 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 (synonymous variant) | PNKD-related condition +2 more | |
| | | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Paroxysmal nonkinesigenic dyskinesia +3 more | |
| | CATIP-AS2, PNKD (R85H +1 more) | Single nucleotide variant (missense variant) | not provided +3 more | |
| | CATIP-AS2, PNKD (G89R +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia 1 +3 more | |
| | PNKD, CATIP-AS2 (A100V +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia 1 +1 more | GConflicting classifications of pathogenicity |
| | CATIP-AS2, PNKD (R101Q +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia 1 +1 more | |
| | CATIP-AS2, PNKD (H108R +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia 1 +3 more | GConflicting classifications of pathogenicity |
| | CATIP-AS2, PNKD (T111A +1 more) | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | PNKD, CATIP-AS2 (R90H +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia +1 more | |
| | | Single nucleotide variant (intron variant) | Paroxysmal nonkinesigenic dyskinesia +1 more | |
| | CATIP-AS2, PNKD (P99L +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia 1 +1 more | |
| | CATIP-AS2, PNKD (R152Q +1 more) | Single nucleotide variant (missense variant) | PNKD-related condition +3 more | |
| | | Single nucleotide variant (intron variant) | Paroxysmal nonkinesigenic dyskinesia +2 more | |
| | | Single nucleotide variant (intron variant) | Paroxysmal nonkinesigenic dyskinesia +2 more | GConflicting classifications of pathogenicity |
| | PNKD, CATIP-AS2 (E159V +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia 1 | |
| | | Single nucleotide variant (synonymous variant) | Paroxysmal nonkinesigenic dyskinesia +3 more | |
| | | Single nucleotide variant (intron variant) | Paroxysmal nonkinesigenic dyskinesia +1 more | |
| | CATIP-AS2, PNKD (R187W +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia +1 more | GConflicting classifications of pathogenicity |
| | CATIP-AS2, PNKD (R187Q +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia 1 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Paroxysmal nonkinesigenic dyskinesia 1 +1 more | GConflicting classifications of pathogenicity |
| | CATIP-AS2, PNKD (H210N +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia 1 | |
| | | Single nucleotide variant (synonymous variant) | Paroxysmal nonkinesigenic dyskinesia 1 +2 more | |
| | CATIP-AS2, PNKD (R218Q +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Paroxysmal nonkinesigenic dyskinesia 1 | |
| | | Single nucleotide variant (intron variant) | not specified +3 more | |
| | CATIP-AS2, PNKD (R262Q +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia 1 +2 more | GConflicting classifications of pathogenicity |
| | CATIP-AS2, PNKD (E307K +1 more) | Single nucleotide variant (missense variant) | PNKD-related condition +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | CATIP-AS2, PNKD (R320Q +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia 1 +2 more | GConflicting classifications of pathogenicity |
| | CATIP-AS2, PNKD (R377Q +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia 1 +1 more | |
| | | Deletion (inframe_deletion) | PNKD-related condition +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Paroxysmal nonkinesigenic dyskinesia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Paroxysmal nonkinesigenic dyskinesia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Paroxysmal nonkinesigenic dyskinesia 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Paroxysmal nonkinesigenic dyskinesia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Paroxysmal nonkinesigenic dyskinesia 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Paroxysmal nonkinesigenic dyskinesia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Paroxysmal nonkinesigenic dyskinesia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Paroxysmal nonkinesigenic dyskinesia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Paroxysmal nonkinesigenic dyskinesia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Paroxysmal nonkinesigenic dyskinesia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Paroxysmal nonkinesigenic dyskinesia 1 | |
| | | Duplication (3 prime UTR variant) | Paroxysmal nonkinesigenic dyskinesia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Paroxysmal nonkinesigenic dyskinesia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Paroxysmal nonkinesigenic dyskinesia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Paroxysmal nonkinesigenic dyskinesia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Paroxysmal nonkinesigenic dyskinesia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Paroxysmal nonkinesigenic dyskinesia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Paroxysmal nonkinesigenic dyskinesia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Paroxysmal nonkinesigenic dyskinesia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Paroxysmal nonkinesigenic dyskinesia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Paroxysmal nonkinesigenic dyskinesia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Paroxysmal nonkinesigenic dyskinesia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Paroxysmal nonkinesigenic dyskinesia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Paroxysmal nonkinesigenic dyskinesia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Paroxysmal nonkinesigenic dyskinesia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Paroxysmal nonkinesigenic dyskinesia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Paroxysmal nonkinesigenic dyskinesia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Paroxysmal nonkinesigenic dyskinesia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Paroxysmal nonkinesigenic dyskinesia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Paroxysmal nonkinesigenic dyskinesia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Paroxysmal nonkinesigenic dyskinesia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Paroxysmal nonkinesigenic dyskinesia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Paroxysmal nonkinesigenic dyskinesia 1 | |
| | | Single nucleotide variant | Paroxysmal nonkinesigenic dyskinesia 1 | |
| | | Duplication (frameshift variant) | Seizures, benign familial infantile, 2 +14 more | GPathogenic/Likely pathogenic |