Links from MedGen
Items: 6
| Variation | | Type (Consequence) | Condition | Classification, Review status |
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| | | Single nucleotide variant (intron variant) | Congenital heart defects, multiple types, 8, with or without heterotaxy | |
| | | Single nucleotide variant (synonymous variant) | Loeys-Dietz syndrome 6 +4 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Congenital heart defects, multiple types, 8, with or without heterotaxy | |
| | | Single nucleotide variant (splice donor variant) | Congenital heart defects, multiple types, 8, with or without heterotaxy | |
Click to view in NCBI Gene