| | | 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 (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Glycosylphosphatidylinositol biosynthesis defect 16 | |
| | | Single nucleotide variant (missense variant +1 more) | Glycosylphosphatidylinositol biosynthesis defect 16 | |
| | ANKRD45, C1orf105 +22 more | Duplication | not provided | |
| | | Copy number loss | 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) | not specified | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Copy number loss | 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 (missense variant) | 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 | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | Glycosylphosphatidylinositol biosynthesis defect 16 | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Copy number loss | not specified | |
| | ANKRD45, C1orf105 +26 more | Copy number loss | not specified | |
| | METTL13, MIR199A2 +68 more | Copy number loss | not specified | |
| | | 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 | |
| | ANKRD45, C1orf105 +22 more | Duplication | Autoimmune lymphoproliferative syndrome type 1 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion | Autoimmune lymphoproliferative syndrome type 1 | |
| | | 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 | |
| | | Duplication | Parathyroid carcinoma +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Glycosylphosphatidylinositol biosynthesis defect 16 | |
| | | Insertion (nonsense +1 more) | Global developmental delay +1 more | GPathogenic/Likely pathogenic |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +3 more | |
| | | Deletion | 1q24q25 microdeletion syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Glycosylphosphatidylinositol biosynthesis defect 16 | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Glycosylphosphatidylinositol biosynthesis defect 16 | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | Non-immune hydrops fetalis +1 more | GConflicting classifications of pathogenicity |
| | | Copy number loss | See cases | |
| | LOC129931453, LOC129931454 +1585 more | Copy number gain | See cases | |
| | LOC129388624, LOC129388625 +407 more | Copy number loss | See cases | |
| | LOC129932075, LOC129932076 +560 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |