| | | Copy number loss | not specified | |
| | SLC24A3, SLC4A11 +164 more | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | glycolate oxidase deficiency | |
| | | Copy number gain | Renal agenesis | |
| | | 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 gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Autism | |
| | | Copy number loss | 20p12.3 microdeletion syndrome | |
| | | Copy number gain | not specified | |
| | | Duplication | Alagille syndrome due to a JAG1 point mutation | |
| | | 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 | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not specified | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Copy number gain | See cases | |
| | LOC130065331, LOC130065332 +300 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | MIR6869, MIR6870 +828 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130065566, LOC130065567 +2522 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC111365169, LOC111365189 +833 more | Copy number gain | See cases | |
| | | Single nucleotide variant (intron variant) | Nephrolithiasis, calcium oxalate | |
| | | Single nucleotide variant (intron variant) | Nephrolithiasis, calcium oxalate | |
| | | Single nucleotide variant (intron variant) | Nephrolithiasis, calcium oxalate | |
| | | Single nucleotide variant (intron variant) | Nephrolithiasis, calcium oxalate | |
| | | Single nucleotide variant (intron variant) | Nephrolithiasis, calcium oxalate | |
| | | Single nucleotide variant (intron variant) | Nephrolithiasis, calcium oxalate | |
| | | Single nucleotide variant (intron variant) | Nephrolithiasis, calcium oxalate | |
| | | Single nucleotide variant (intron variant) | Nephrolithiasis, calcium oxalate | |
| | | Single nucleotide variant (intron variant) | Nephrolithiasis, calcium oxalate | |
| | | Single nucleotide variant (intron variant) | Nephrolithiasis, calcium oxalate | |
| | | Single nucleotide variant | Nephrolithiasis, calcium oxalate | |
| | LOC130065416, LOC130065417 +579 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC126862999, LOC126863005 +814 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |