| | LOC126862863, LOC126862864 +536 more | Copy number gain | See cases | |
| | LOC130063608, LOC130063609 +484 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC112543445, LOC112543446 +355 more | Copy number loss | See cases | |
| | LOC129391074, LOC130063625 +351 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | BEST2, LOC130063661 (G384E) | Single nucleotide variant (missense variant) | not specified | |
| | BEST2, LOC130063661 (P385L) | Single nucleotide variant (missense variant) | not specified | |
| | BEST2, LOC130063661 (G387R) | Single nucleotide variant (missense variant) | not specified | |
| | BEST2, LOC130063661 (A389V) | Single nucleotide variant (missense variant) | not specified | |
| | BEST2, LOC130063661 (G430A) | Single nucleotide variant (missense variant) | not specified | |
| | BEST2, LOC130063661 (A431V) | Single nucleotide variant (missense variant) | not specified | |
| | BEST2, LOC130063661 (C435S) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not provided | |
| | | Duplication | not provided | |
| | | Duplication | Deficiency of alpha-mannosidase +4 more | |
| | | Deletion | Episodic ataxia type 2 +2 more | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |