| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | 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) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant) | 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 provided | |
| | | Duplication | Loeys-Dietz syndrome 2 | |
| | | 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) | 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) | 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) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC130008520, TMPO +1 more | Single nucleotide variant (non-coding transcript 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) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous 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) | not specified | |
| | | Single nucleotide variant (missense variant) | 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) | TMPO-related disorder | |
| | | Single nucleotide variant (intron variant) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Loeys-Dietz syndrome 2 | |
| | LOC130008520, TMPO +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (nonsense +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (intron variant) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Microsatellite (frameshift variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (intron variant) | Loeys-Dietz syndrome 2 | |
| | LOC130008520, TMPO +1 more (T74I) | Single nucleotide variant (non-coding transcript variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 | |
| | LOC130008520, TMPO +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (intron variant) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (intron variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Indel (missense variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (intron variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (intron variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Loeys-Dietz syndrome 2 +1 more | |
| | | Single nucleotide variant (intron variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (intron variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 | |
| | LOC130008520, TMPO +1 more (A84V) | Single nucleotide variant (non-coding transcript variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Microsatellite (inframe_deletion) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (intron variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (intron variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (synonymous variant) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (intron variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 | |
| | LOC130008520, TMPO +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | Loeys-Dietz syndrome 2 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 | |