| | | Copy number gain | See cases | |
| | LOC115995524, LOC115995525 +2647 more | Copy number gain | See cases | |
| | LOC129937460, LOC129937461 +571 more | Copy number loss | See cases | |
| | LOC129937605, LOC129937606 +484 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129937518, LOC129937519 +248 more | Copy number loss | See cases | |
| | | 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 | |
| | | 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 (synonymous variant) | not provided | |
| | | 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 | |
| | LOC129937491, PODXL2 (G538S) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129937491, PODXL2 (R542H) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129937491, PODXL2 (D550V) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129937492, PODXL2 (M564I) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129937492, PODXL2 (Q565H) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129937492, PODXL2 (P569S) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129937492, PODXL2 (S570R) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129937492, PODXL2 (G588A) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129937492, PODXL2 (G589S) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129937492, PODXL2 (G589D) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129937492, PODXL2 (E594D) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not specified | |
| | | Deletion | not provided | |
| | | Duplication | Deafness-lymphedema-leukemia syndrome +1 more | |
| | | Copy number gain | not provided | |
| | ISY1-RAB43, ITGB5 +109 more | Deletion | Alkaptonuria | |
| | | Deletion | Deafness-lymphedema-leukemia syndrome +1 more | |
| | | Deletion | Deafness-lymphedema-leukemia syndrome +1 more | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |