Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Developmental cataract +17 more | |
| | | Single nucleotide variant (missense variant) | Fatigable weakness +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Wide nose +6 more | |
| | ARFGEF1, CSPP1 (E1094G +7 more) | Single nucleotide variant (missense variant) | Global developmental delay +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital ptosis +7 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene