Links from MedGen
Items: 6
| Variation | | Type (Consequence) | Condition | Classification, Review status |
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| | | Single nucleotide variant (intron variant) | Tall stature-intellectual disability-renal anomalies syndrome | |
| | | Single nucleotide variant (missense variant) | Tall stature-intellectual disability-renal anomalies syndrome | |
| | | Single nucleotide variant (missense variant) | Tall stature-intellectual disability-renal anomalies syndrome | |
| | | Single nucleotide variant (intron variant) | Tall stature-intellectual disability-renal anomalies syndrome | |
| | | Insertion (inframe_indel) | Tall stature-intellectual disability-renal anomalies syndrome | |
| | | Single nucleotide variant (nonsense) | Learning disability +6 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene