| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (intron variant) | GON7-related disorder | |
| | | Single nucleotide variant (synonymous variant) | GON7-related disorder | |
| | | Single nucleotide variant (missense variant) | GON7-related disorder | |
| | | Single nucleotide variant (synonymous variant) | GON7-related disorder | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Duplication | not provided | |
| | | Duplication | Achondrogenesis, type IA | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number loss | not specified | |
| | | Duplication (frameshift variant) | Galloway-Mowat syndrome 9 | |
| | | Single nucleotide variant (nonsense) | Galloway-Mowat syndrome | |
| | | Deletion | Li-Campeau syndrome | |
| | SERPINA10, SERPINA11 +74 more | Copy number loss | Deletion syndrome | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC125048431, LOC125048432 +3280 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130056672, LOC130056673 +1071 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
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