| | | 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 loss | not specified | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (synonymous variant) | ISL1-related disorder | |
| | | Single nucleotide variant (intron variant) | ISL1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | ISL1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | ISL1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | ISL1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | ISL1-related disorder | |
| | | Single nucleotide variant (missense variant) | ISL1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | ISL1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | ISL1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | ISL1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | ISL1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | ISL1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | ISL1-related disorder | |
| | | Single nucleotide variant (intron variant) | ISL1-related disorder | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | ISL1-related disorder | |
| | | Single nucleotide variant (missense variant) | ISL1-related disorder | |
| | | Single nucleotide variant (missense variant) | ISL1-related disorder | |
| | | Single nucleotide variant (missense variant) | ISL1-related disorder | |
| | | Single nucleotide variant (missense variant) | ISL1-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | ISL1-related disorder | |
| | | Single nucleotide variant (missense variant) | ISL1-related disorder | |
| | | Single nucleotide variant (missense variant) | ISL1-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) | ISL1-related disorder +1 more | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | ISL1-related disorder +1 more | |
| | C5orf24, C5orf34 +600 more | Deletion | Neurodevelopmental disorder | |
| | | Single nucleotide variant (splice acceptor variant) | Heart, malformation of | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | Bladder exstrophy-epispadias-cloacal extrophy complex | |
| | | Single nucleotide variant (intron variant) | Bladder exstrophy-epispadias-cloacal extrophy complex | |
| | ACTBL2, ADAMTS12 +1445 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126807363, LOC126807364 +518 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |