| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | 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 (synonymous variant) | 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 (synonymous variant) | not provided | |
| | | 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 | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | Microcephaly | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | 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 gain | not provided | |
| | | Copy number loss | not provided | |
| | | Complex | See cases | |
| | | Copy number loss | See cases | |
| | ADAMDEC1, ADGRA2 +251 more | Complex | 8p inverted duplication/deletion syndrome | |
| | | Copy number gain | Polydactyly | |
| | | Duplication | Autosomal dominant nocturnal frontal lobe epilepsy | |
| | | Copy number gain | Abnormal fetal cardiovascular morphology | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | ASAH1-AS1, ATP6V1B2 +129 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 | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | 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 | |
| | | Copy number gain | See cases | |
| | LOC129999967, LOC129999968 +870 more | Copy number gain | See cases | |
| | LOC130000303, LOC130000304 +922 more | Copy number gain | See cases | |
| | LOC124153144, LOC124153145 +818 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC132089588, LOC132089589 +510 more | Copy number loss | See cases | |
| | LOC129999966, LOC129999967 +3111 more | Copy number gain | See cases | |
| | LOC126860438, LOC126860439 +3663 more | Copy number gain | See cases | |
| | LOC130000099, LOC130000100 +1040 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC113788268, LOC113788269 +929 more | Copy number gain | See cases | |
| | LOC130000050, LOC130000051 +791 more | Copy number gain | See cases | |
| | LOC126860319, LOC126860320 +696 more | Copy number gain | See cases | |
| | LOC129999950, LOC129999951 +996 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC124153126, LOC124153127 +257 more | Copy number loss | See cases | |
| | LOC128772328, LOC129389957 +653 more | Copy number gain | See cases | |
| | LOC130000032, LOC130000033 +1105 more | Copy number gain | See cases | |
| | LOC130000106, LOC130000107 +937 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC113788272, LOC113788273 +807 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | KAT6A-AS1, KCNU1 +929 more | Copy number gain | See cases | |
| | LOC130000241, LOC130000242 +934 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130000309, LOC130000310 +900 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000074, LOC130000075 +929 more | Copy number gain | See cases | |
| | TNFRSF10A, TNFRSF10A-DT +705 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |