| | LOC129391127, LOC129391128 +363 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130064822, LOC130064823 +290 more | Copy number gain | 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 | |
| | LOC130064789, TMEM160 (P49A) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130064789, TMEM160 (A38T) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130064789, TMEM160 (P24S) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130064789, TMEM160 (R17C) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130064789, TMEM160 (L13V) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130064789, TMEM160 (R12L) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | Coffin-Siris syndrome 12 | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | PGLYRP1, PGLYRP2 +1364 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |