| | LINC02522, LINC02525 +823 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC132089500, LOC132090749 +641 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129995684, LOC129995685 +307 more | Copy number gain | See cases | |
| | LOC129995551, LOC129995552 +287 more | Copy number loss | See cases | |
| | LOC129995714, LOC129995715 +777 more | Copy number gain | See cases | |
| | LOC129995520, LOC129995521 +610 more | Copy number loss | See cases | |
| | LOC121106426, LOC121113497 +557 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC121740636, LOC121740637 +255 more | Copy number loss | See cases | |
| | LOC123575649, LOC123575650 +345 more | Copy number loss | See cases | |
| | LINC02521, LINC02522 +508 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | BLOC1S5, BLOC1S5-TXNDC5 +435 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129389427, LOC129389428 +301 more | Copy number loss | See cases | |
| | LOC126859547, LOC126859548 +305 more | Copy number loss | See cases | |
| | LOC129995574, LOC129995575 +116 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129995778, LOC129995779 +571 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129995595, LOC129995596 +310 more | Copy number loss | See cases | |
| | LOC126859546, LOC126859547 +431 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129995630, LOC129995631 +536 more | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | EXOC2-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | EXOC2, LOC126859547 (V587I) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | EXOC2, LOC126859547 (C586S) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | EXOC2, LOC126859547 (R585C) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | EXOC2, LOC126859547 (V584I) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | EXOC2, LOC126859547 (D581E) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | EXOC2, LOC126859547 (L580S) | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia | |
| | EXOC2, LOC126859547 (A549T) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | EXOC2, LOC126859547 (E542K) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | EXOC2, LOC126859547 (G535R) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | EXOC2, LOC126859547 (H511L) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense +1 more) | Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Malignant tumor of prostate | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |