| | | Copy number gain | See cases | |
| | LOC130064933, LOC130064934 +1093 more | Copy number gain | See cases | |
| | LOC113939975, LOC116286194 +806 more | Copy number gain | See cases | |
| | MIR498, MIR512-1 +782 more | Copy number gain | See cases | |
| | LOC130065070, LOC130065071 +761 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130065086, LOC130065087 +537 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130065109, TMEM238 (A146T) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130065109, TMEM238 (A144S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130065109, TMEM238 (R139G) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130065109, TMEM238 (G136S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130065109, TMEM238 (P133A) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130065109, TMEM238 (Q131R) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | 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 | |
| | | Copy number gain | See cases | |