| | 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 | |
| | LOC129389427, LOC129389428 +301 more | Copy number loss | See cases | |
| | LOC126859547, LOC126859548 +305 more | 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 | |
| | LOC129995630, LOC129995631 +536 more | Copy number gain | See cases | |
| | LINC02521, LINC02525 +140 more | Inversion | Anophthalmia-microphthalmia syndrome | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129995612, MYLK4 +1 more (V18M) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC129995612, MYLK4 +1 more (H43Y) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC129995612, MYLK4 +1 more (R60W) | 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 | |
| | LOC129995613, MYLK4 +1 more (S132T) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC129995613, MYLK4 +1 more (P143S) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC129995613, MYLK4 +1 more (A147V) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC129995613, MYLK4 +1 more (A148V) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC129995613, MYLK4 +1 more (G150A) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC129995613, MYLK4 +1 more (A152T) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC129995613, MYLK4 +1 more (G176E) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | WRNIP1, LOC129995613 +1 more | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | MYLK4, WRNIP1 +1 more (E183K) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC129995613, MYLK4 +1 more (P186L) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC129995613, MYLK4 +1 more (A194V) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | MYLK4, WRNIP1 +1 more (G205E) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC129995613, MYLK4 +1 more (R207L) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | WRNIP1, LOC129995613 +1 more (Q223R) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC129995613, MYLK4 +1 more (P226S) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC129995613, MYLK4 +1 more (P226R) | 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) | 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) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | MYLK4, WRNIP1 (A366T +1 more) | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | WRNIP1-related condition | |
| | | 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) | 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) | 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 | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | Axenfeld-Rieger syndrome type 3 | |
| | | Copy number loss | 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 | |
| | | Copy number gain | not provided | |
| | | Copy number loss | 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 | |