| | C6orf201, ECI2 (F326S +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | C6orf201, ECI2 (F201S +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | C6orf201, ECI2 +1 more (P209T +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | C6orf201, ECI2 (T107A +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | C6orf201, ECI2 (P342Q +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not provided | |
| | C6orf201, ECI2 (A232V +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC129995619, LOC129995620 +140 more | Inversion | Anophthalmia-microphthalmia syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | C6orf201, ECI2 (K295T +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | C6orf201, ECI2 (Y81C +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | C6orf201, ECI2 (V260M +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | C6orf201, ECI2 +1 more (D194N +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | C6orf201, ECI2 (Y81H +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | C6orf201, ECI2 (V384M +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | C6orf201, ECI2 +1 more (A191T +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | C6orf201, ECI2 (I219T +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | C6orf201, ECI2 +1 more (T206I +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | C6orf201, ECI2 (I150V +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | C6orf201, ECI2 (I134V +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | C6orf201, ECI2 (P322S +1 more) | Single nucleotide variant (missense variant +1 more) | 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 loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129995745, LOC129995746 +557 more | Copy number gain | See cases | |
| | ANKRD66, C6orf201 +2580 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129995555, LOC129995556 +641 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC132090751, LOC132090752 +508 more | Copy number gain | See cases | |
| | LOC129995829, LOC129995830 +777 more | 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 | |
| | LOC132089486, LOC132089487 +435 more | Copy number gain | See cases | |
| | LOC129995677, LOC129995678 +331 more | Copy number loss | See cases | |
| | SERPINB9-AS1, SLC22A23 +571 more | Copy number gain | See cases | |
| | LOC643327, PRPF4B +31 more | Copy number gain | See cases | |
| | BLOC1S5, BLOC1S5-TXNDC5 +431 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126859578, LOC126859579 +536 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126859561, LOC126859562 +305 more | Copy number loss | See cases | |