| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | DEFB134, DEFB135 +234 more | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | 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 | |
| | | Duplication | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | Neurodevelopmental disorder | |
| | | Copy number loss | Microcephaly | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication | 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 provided | |
| | | Copy number loss | not provided | |
| | | Complex | See cases | |
| | | Copy number loss | See cases | |
| | ASAH1-AS1, ASH2L +251 more | Complex | 8p inverted duplication/deletion syndrome | |
| | | Copy number gain | Polydactyly | |
| | | Copy number gain | not specified | |
| | | Duplication | Hereditary spastic paraplegia 53 | |
| | | Copy number gain | Abnormal fetal cardiovascular morphology | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Variation (no sequence alteration) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Variation (no sequence alteration) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | 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 | |
| | CSGALNACT1, SFTPC +77 more | Copy number gain | Autism +7 more | |
| | 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 | |
| | PPDPFL, PPP1R16A +665 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | Breast ductal adenocarcinoma | |
| | MIR4660, MIR548H4 +773 more | Copy number loss | See cases | |
| | LOC121331299, LOC121331300 +868 more | Copy number gain | See cases | |
| | LOC101929258, LOC101929470 +920 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129999937, LOC129999938 +3658 more | Copy number gain | See cases | |
| | LOC132089588, LOC132089589 +510 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129999850, LOC129999851 +1038 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000275, LOC130000276 +927 more | Copy number gain | See cases | |
| | LOC130000249, LOC130000250 +789 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000150, LOC130000151 +996 more | Copy number gain | See cases | |
| | MIR7705, MIR7848 +3656 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC126860345, LOC126860346 +1103 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC113788273, LOC113788274 +805 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000086, LOC130000087 +932 more | Copy number gain | See cases | |
| | ASAH1, ASAH1-AS1 +144 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ASAH1, ASAH1-AS1 +140 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | TNFRSF10A, TNFRSF10A-DT +920 more | Copy number gain | See cases | |
| | LOC130000305, LOC130000306 +927 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |