Links from MedGen
Items: 6
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (intron variant) | Loeys-Dietz syndrome 2 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Deletion (frameshift variant +1 more) | Dilated cardiomyopathy 1T | |
| | | Single nucleotide variant (missense variant +1 more) | Amyloidosis +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | TMPO-related condition +7 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene