Links from MedGen
Items: 23
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +1 more) | C syndrome | |
| | | Single nucleotide variant (intron variant) | C syndrome | |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | C syndrome +1 more | |
| | | Deletion (frameshift variant +1 more) | C syndrome | |
| | | Deletion (splice donor variant +1 more) | C syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | C syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | C syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | C syndrome | |
| | | Duplication (frameshift variant +1 more) | C syndrome | |
| | | Deletion (3 prime UTR variant) | C syndrome | |
| | | Insertion (3 prime UTR variant) | C syndrome | |
| | | Insertion (3 prime UTR variant) | C syndrome | |
| | | Deletion (3 prime UTR variant) | C syndrome | |
| | | Deletion (3 prime UTR variant) | C syndrome | |
| | | Deletion (3 prime UTR variant) | C syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | C syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | C syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | C syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | C syndrome | |
| | | Duplication (frameshift variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | C syndrome | |
| | | Translocation | C syndrome | |
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