| | LOC129992561, LOC129992562 +1409 more | Copy number gain | Neurodevelopmental disorder | |
| | | Copy number gain | See cases | |
| | LOC129389216, LOC129389217 +757 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ENAM, LOC116158492 +360 more | Copy number loss | Piebaldism | |
| | LOC129992618, LOC129992619 +143 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (splice acceptor variant) | Familial retinal arterial macroaneurysm | |
| | | Single nucleotide variant (missense variant) | Familial retinal arterial macroaneurysm | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Familial retinal arterial macroaneurysm | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | IGFBP7, IGFBP7-AS1 (G144E) | Single nucleotide variant (non-coding transcript variant +1 more) | IGFBP7-related condition | |
| | IGFBP7, IGFBP7-AS1 (A135T) | Single nucleotide variant (non-coding transcript variant +1 more) | IGFBP7-related condition | |
| | IGFBP7, IGFBP7-AS1 (G124S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | IGFBP7-AS1, IGFBP7 (P105R) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | IGFBP7-AS1, IGFBP7 (G104S) | 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) | IGFBP7-related condition | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | 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 | |