| | | Single nucleotide variant (non-coding transcript variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (synonymous variant) | Loeys-Dietz syndrome 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (synonymous variant) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (synonymous variant) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (synonymous variant) | Loeys-Dietz syndrome 2 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (synonymous variant) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (synonymous variant) | Loeys-Dietz syndrome 2 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Loeys-Dietz syndrome 2 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (non-coding transcript 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) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (non-coding transcript 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 | |
| | | 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 (non-coding transcript variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Loeys-Dietz syndrome 2 | |
| | LOC130008520, TMPO +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases +2 more | |
| | TMPO-AS1, LOC130008520 +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases +1 more | |
| | LOC130008520, TMPO +1 more (T74I) | Single nucleotide variant (non-coding transcript variant +1 more) | Loeys-Dietz syndrome 2 | |
| | LOC130008520, TMPO +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases +3 more | |
| | LOC130008520, TMPO +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | Loeys-Dietz syndrome 2 +1 more | |
| | LOC130008520, TMPO +1 more (L77F) | 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 | |
| | LOC130008520, TMPO +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases +1 more | |
| | LOC130008520, TMPO +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | Loeys-Dietz syndrome 2 +1 more | |
| | TMPO, TMPO-AS1 +1 more (S79F) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases +1 more | |
| | LOC130008520, TMPO +1 more (G80R) | Single nucleotide variant (non-coding transcript variant +1 more) | Loeys-Dietz syndrome 2 | |
| | TMPO, TMPO-AS1 +1 more (A83V) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | LOC130008520, TMPO +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | not specified +1 more | |
| | LOC130008520, TMPO +1 more (A84V) | Single nucleotide variant (non-coding transcript variant +1 more) | Loeys-Dietz syndrome 2 | |
| | LOC130008520, TMPO +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases +3 more | |
| | LOC130008520, TMPO +1 more (R86G) | Single nucleotide variant (non-coding transcript variant +1 more) | Loeys-Dietz syndrome 2 | |
| | LOC130008520, TMPO +1 more (R88Q) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | LOC130008520, TMPO +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases +1 more | |
| | LOC130008520, TMPO +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | Loeys-Dietz syndrome 2 | |
| | LOC130008520, TMPO +1 more (V91A) | Single nucleotide variant (non-coding transcript variant +1 more) | Loeys-Dietz syndrome 2 | |
| | LOC130008520, TMPO +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | Loeys-Dietz syndrome 2 | |
| | LOC130008520, TMPO +1 more (G92S) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases +1 more | |
| | LOC130008520, TMPO +1 more (R93K) | Single nucleotide variant (non-coding transcript variant +1 more) | Loeys-Dietz syndrome 2 | |
| | LOC130008520, TMPO +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | Loeys-Dietz syndrome 2 | |
| | LOC130008520, TMPO +1 more | Single nucleotide variant (intron variant +1 more) | Loeys-Dietz syndrome 2 | |
| | LOC130008520, TMPO +1 more | Duplication (non-coding transcript variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Loeys-Dietz syndrome 2 | |
| | LOC130008520, TMPO +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | Loeys-Dietz syndrome 2 | |
| | LOC130008520, TMPO +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | Loeys-Dietz syndrome 2 | |