Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Trigonocephaly-short stature-developmental delay syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Trigonocephaly-short stature-developmental delay syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Trigonocephaly-short stature-developmental delay syndrome | |
Click to view in NCBI Gene