| | | Copy number gain | See cases | |
| | LOC129935343, LOC129935344 +1703 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129935726, LOC129935727 +1665 more | Copy number gain | See cases | |
| | LOC129935713, LOC129935714 +1299 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC110120629, LOC110120691 +986 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | TUBA4A-related disorder | |
| | | Single nucleotide variant (missense variant) | TUBA4A-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | TUBA4A-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | TUBA4A-related disorder | |
| | | Single nucleotide variant (synonymous variant) | TUBA4A-related disorder | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (nonsense) | Amyotrophic lateral sclerosis type 22 | |
| | | Single nucleotide variant (missense variant) | Amyotrophic lateral sclerosis | |
| | | Single nucleotide variant (synonymous variant) | TUBA4A-related disorder | |
| | | Single nucleotide variant (missense variant) | Amyotrophic lateral sclerosis type 22 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Amyotrophic lateral sclerosis type 22 | |
| | | Single nucleotide variant (synonymous variant) | TUBA4A-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | TUBA4A-related disorder | |
| | | Single nucleotide variant (synonymous variant) | TUBA4A-related disorder | |
| | | Single nucleotide variant (synonymous variant) | TUBA4A-related disorder | |
| | | Single nucleotide variant (synonymous variant) | TUBA4A-related disorder | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | TUBA4A-related disorder | |
| | | Single nucleotide variant (missense variant) | Amyotrophic lateral sclerosis type 22 | |
| | | Single nucleotide variant (synonymous variant) | TUBA4A-related disorder | |
| | | Single nucleotide variant (synonymous variant) | TUBA4A-related disorder | |
| | | Single nucleotide variant (missense variant) | Amyotrophic lateral sclerosis type 22 | |
| | | Single nucleotide variant (missense variant) | TUBA4A-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Indel (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | TUBA4A-related disorder | |
| | | Single nucleotide variant (synonymous variant) | TUBA4A-related disorder | |
| | | Single nucleotide variant (synonymous variant) | TUBA4A-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | TUBA4A-related disorder | |
| | | Single nucleotide variant (synonymous variant) | TUBA4A-related disorder | |
| | | Single nucleotide variant (missense variant) | Amyotrophic lateral sclerosis type 22 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | TUBA4A-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | TUBA4A-related disorder | |
| | | Single nucleotide variant (synonymous variant) | TUBA4A-related disorder | |
| | | Single nucleotide variant (synonymous variant) | TUBA4A-related disorder | |
| | | Single nucleotide variant (missense variant) | Amyotrophic lateral sclerosis type 22 | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Microsatellite (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Amyotrophic lateral sclerosis type 22 | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Amyotrophic lateral sclerosis type 10 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | TUBA4A-related disorder | |
| | | Single nucleotide variant (synonymous variant) | TUBA4A-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | TUBA4A-related disorder | |
| | | Single nucleotide variant (missense variant) | Amyotrophic lateral sclerosis type 22 | |
| | | Single nucleotide variant (synonymous variant) | TUBA4A-related disorder | |
| | | Single nucleotide variant (splice acceptor variant) | TUBA4A-related disorder | |
| | | Single nucleotide variant (missense variant) | TUBA4A-related disorder | |
| | | Single nucleotide variant (synonymous variant) | TUBA4A-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | TUBA4A-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | TUBA4A-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | TUBA4A-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | 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 | |
| | | Duplication (intron variant) | not provided | |
| | | Insertion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Insertion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Ptosis | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LOC129935646, TUBA4A +1 more | Duplication (intron variant) | not provided | |