| | | Single nucleotide variant (missense variant) | Dystonia 25 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | GNAL, MPPE1 (K331R +2 more) | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases | |
| | GNAL, MPPE1 (C340Y +2 more) | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CHMP1B, LOC125368547 +1 more (V199M) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | GNAL, MPPE1 (P289L +2 more) | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases | |
| | GNAL, MPPE1 (L373F +2 more) | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases | |
| | CHMP1B, GNAL +1 more (V149M) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | GNAL, MPPE1 (R371C +2 more) | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases | |
| | GNAL, MPPE1 (R331C +2 more) | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases | |
| | MPPE1, GNAL (T277M +2 more) | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases | |
| | MPPE1, GNAL (K331N +2 more) | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CHMP1B, GNAL +1 more (K90T) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC125368547, CHMP1B +1 more | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |