| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Glycosylphosphatidylinositol biosynthesis defect 16 | |
| | | Duplication | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | Glycosylphosphatidylinositol biosynthesis defect 16 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Glycosylphosphatidylinositol biosynthesis defect 16 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Glycosylphosphatidylinositol biosynthesis defect 16 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Glycosylphosphatidylinositol biosynthesis defect 16 | |
| | | Single nucleotide variant (missense variant +1 more) | Glycosylphosphatidylinositol biosynthesis defect 16 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Glycosylphosphatidylinositol biosynthesis defect 16 +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Glycosylphosphatidylinositol biosynthesis defect 16 | |
| | | Insertion (nonsense +1 more) | Global developmental delay +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | PIGC-related condition +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Glycosylphosphatidylinositol biosynthesis defect 16 | |
| | | Single nucleotide variant (nonsense +1 more) | Glycosylphosphatidylinositol biosynthesis defect 16 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Glycosylphosphatidylinositol biosynthesis defect 16 | |
| | | Single nucleotide variant (missense variant +1 more) | Glycosylphosphatidylinositol biosynthesis defect 16 +1 more | GConflicting classifications of pathogenicity |