| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | AKAP13, LOC126862206 (D2334H +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | AKAP13, LOC126862206 (A979G +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | AKAP13, LOC126862206 (S2317Y +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | AKAP13, LOC126862206 (T2334I +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | AKAP13, LOC126862206 (K983T +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Copy number gain | See cases | |
| | LOC130057816, LOC130057817 +1763 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC111822949, LOC112272574 +664 more | Copy number gain | See cases | |
| | LOC130057971, LOC130057972 +630 more | Copy number gain | See cases | |
| | LOC130057938, LOC130057939 +611 more | Copy number gain | See cases | |
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