| | LINC02522, LINC02525 +823 more | Copy number gain | See cases | |
| | LOC132089500, LOC132090749 +641 more | Copy number gain | 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 | |
| | LOC129995778, LOC129995779 +571 more | Copy number gain | See cases | |
| | LOC129995630, LOC129995631 +536 more | Copy number gain | See cases | |
| | LOC129389446, LOC129389447 +617 more | Copy number loss | See cases | |
| | LOC129995913, LOC129995914 +1340 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | ELOVL2-AS1, ERVFRD-1 +154 more | Copy number loss | See cases | |
| | | Duplication | not specified | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | EDN1-related condition | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | EDN1-related condition +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Question mark ears, isolated | |
| | | Single nucleotide variant (missense variant) | Auriculocondylar syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | EDN1-related condition | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Question mark ears, isolated | |
| | | Single nucleotide variant (missense variant) | Auriculocondylar syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Auriculocondylar syndrome 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Auriculocondylar syndrome 3 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not specified | |
| | | Duplication | 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 | |
| | | Duplication | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |