| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | ADAM19, ADAMTS2 +1166 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129995246, LOC129995247 +622 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129995359, LOC129995360 +386 more | Copy number loss | See cases | |
| | FAM153A, FAM153B +176 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129995374, LOC129995375 +136 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | 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 | |
| | LOC129995352, LOC129995353 +65 more | Copy number loss | Sotos syndrome | |
| | | Duplication | 5q35 microduplication syndrome | |
| | FAF2, LOC126807616 (L118V) | Single nucleotide variant (missense variant) | not specified | |
| | FAF2, LOC126807616 (R119C) | Single nucleotide variant (missense variant) | not specified | |
| | FAF2, LOC126807616 (S138P) | Single nucleotide variant (missense variant) | not specified | |
| | FAF2, LOC126807616 (E144D) | Single nucleotide variant (missense variant) | not specified | |
| | FAF2, LOC126807616 (T158A) | Single nucleotide variant (missense variant) | not specified | |
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