| | | Copy number gain | See cases | |
| | | Copy number loss | 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 gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129995829, LOC129995830 +777 more | Copy number gain | 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 | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC132090751, LOC132090752 +508 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC132089486, LOC132089487 +435 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC126859561, LOC126859562 +305 more | Copy number loss | See cases | |
| | SERPINB9-AS1, SLC22A23 +571 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | BLOC1S5, BLOC1S5-TXNDC5 +431 more | Copy number loss | See cases | |
| | LOC126859578, LOC126859579 +536 more | Copy number gain | See cases | |
| | LOC129995619, LOC129995620 +140 more | Inversion | Anophthalmia-microphthalmia syndrome | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129995612, MYLK4 +1 more (P10S) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC129995612, MYLK4 +1 more (V18M) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | WRNIP1, LOC129995612 +1 more (H43Y) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC129995612, MYLK4 +1 more (R60W) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC129995613, MYLK4 +1 more (A129V) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC129995613, MYLK4 +1 more (S132T) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC129995613, MYLK4 +1 more (G140R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC129995613, MYLK4 +1 more (P143S) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC129995613, MYLK4 +1 more (A147V) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC129995613, MYLK4 +1 more (A148V) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC129995613, MYLK4 +1 more (G150A) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC129995613, MYLK4 +1 more (A152T) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC129995613, MYLK4 +1 more (G176E) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | WRNIP1, LOC129995613 +1 more | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC129995613, MYLK4 +1 more (E183K) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC129995613, MYLK4 +1 more (P186L) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC129995613, MYLK4 +1 more (G187A) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC129995613, MYLK4 +1 more (A194V) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC129995613, MYLK4 +1 more (G205E) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC129995613, MYLK4 +1 more (R207L) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC129995613, MYLK4 +1 more (L222V) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC129995613, MYLK4 +1 more (Q223R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC129995613, MYLK4 +1 more (P226S) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC129995613, MYLK4 +1 more (P226R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | 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) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | MYLK4, WRNIP1 (A366T +1 more) | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | MYLK4, WRNIP1 (P409S +1 more) | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | WRNIP1-related disorder | |
| | | 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 | |
| | | 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 | |
| | | 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 | |
| | | 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 | |
| | | 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 | |