Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GPHN, PIGH (R162W +1 more) | Single nucleotide variant (missense variant) | Glycosylphosphatidylinositol biosynthesis defect 17 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Glycosylphosphatidylinositol biosynthesis defect 17 | |
| | GPHN, LOC130055900
+1 more (M1L) | Single nucleotide variant (missense variant +1 more) | Glycosylphosphatidylinositol biosynthesis defect 17 | |
Click to view in NCBI Gene