Links from MedGen
Items: 12
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | | Right atrial isomerism | |
| | | Deletion (3 prime UTR variant +1 more) | Congenital heart defects, multiple types, 6 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital heart defects, multiple types, 6 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital heart defects, multiple types, 6 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital heart defects, multiple types, 6 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital heart defects, multiple types, 6 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital heart defects, multiple types, 6 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | GPathogenic/Likely pathogenic |
| | | Deletion (3 prime UTR variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Right atrial isomerism +2 more | |
| | CERS1, GDF1 +1 more (C227*) | Single nucleotide variant (3 prime UTR variant +1 more) | GDF1-related condition +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene