| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LINC00668, LINC01254 +379 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129390958, LOC130062070 +300 more | Copy number gain | See cases | |
| | NDUFV2-AS1, PIEZO2 +374 more | Copy number loss | See cases | |
| | LOC126862711, LOC126862712 +1643 more | Copy number gain | See cases | |
| | LOC130062167, LOC130062168 +367 more | Copy number loss | See cases | |
| | LOC125338465, LOC125338466 +367 more | Copy number gain | See cases | |
| | LOC130062104, LOC130062105 +368 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130062144, LOC130062145 +368 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130062667, LOC130062668 +1643 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130062278, LOC130062279 +1643 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC126862732, LOC126862733 +1643 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | ANKRD12, ANKRD29 +1642 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129390955, LOC129390956 +358 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | SERPINB12, SERPINB13 +1643 more | Copy number gain | See cases | |
| | LOC125368553, LOC125368554 +1643 more | Copy number gain | See cases | |
| | LOC130062355, LOC130062356 +1642 more | Copy number gain | See cases | |
| | | Copy number loss | Deletion of short arm of chromosome 18 | |
| | LOC130062147, LOC130062148 +339 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130062208, LOC130062209 +322 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | Autism spectrum disorder | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | LOC130062197, TUBB6 (I30M) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | LOC130062197, TUBB6 (D31V) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | Facial palsy, congenital, with ptosis and velopharyngeal dysfunction | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +2 more) | TUBB6-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | TUBB6-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | TUBB6-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | TUBB6-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | TUBB6-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Ptosis | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Facial palsy, congenital, with ptosis and velopharyngeal dysfunction | |
| | | Single nucleotide variant (missense variant +1 more) | Facial palsy, congenital, with ptosis and velopharyngeal dysfunction | |
| | | Single nucleotide variant (synonymous variant +1 more) | TUBB6-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Spinocerebellar ataxia type 28 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Spinocerebellar ataxia type 28 | |
| | | Single nucleotide variant (3 prime UTR variant) | Spinocerebellar ataxia type 28 | |
| | | Single nucleotide variant (3 prime UTR variant) | Spinocerebellar ataxia type 28 | |
| | | Single nucleotide variant (3 prime UTR variant) | Spinocerebellar ataxia type 28 | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Spinocerebellar ataxia type 28 | |
| | | Single nucleotide variant (3 prime UTR variant) | Spinocerebellar ataxia type 28 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Spastic ataxia 5 +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (stop lost +1 more) | Spastic ataxia 5 +1 more | |
| | | Single nucleotide variant (stop lost +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Duplication (frameshift variant +1 more) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Duplication (frameshift variant +2 more) | Optic atrophy | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |