| | 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) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number loss | Neurodevelopmental disorder | |
| | | Copy number loss | Microcephaly | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication | not provided | |
| | | 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 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 | |
| | CNOT7, CSGALNACT1 +21 more | 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 | |
| | | Copy number gain | Intellectual disability, mild +7 more | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | PPP1R16A, PPP1R42 +593 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 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 | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC121740715, LOC124049166 +816 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC113788274, LOC114827823 +510 more | Copy number loss | See cases | |
| | LOC130000015, LOC130000016 +3658 more | Copy number gain | See cases | |
| | LOC129999850, LOC129999851 +1038 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129999803, LOC129999804 +1018 more | Copy number gain | See cases | |
| | LOC130000093, LOC130000094 +927 more | Copy number gain | See cases | |
| | LOC130000067, LOC130000068 +789 more | Copy number gain | See cases | |
| | LOC129999922, LOC129999923 +694 more | Copy number gain | See cases | |
| | LOC129999981, LOC129999982 +996 more | Copy number gain | See cases | |
| | LOC130000067, LOC130000068 +3656 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC124153130, LOC124153131 +651 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000263, LOC130000264 +935 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000259, LOC130000260 +805 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860290, LOC126860291 +687 more | Copy number gain | See cases | |
| | LOC130000231, LOC130000232 +927 more | Copy number gain | See cases | |
| | | 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 | |
| | LOC126860340, LOC126860341 +927 more | Copy number gain | See cases | |
| | LOC130000118, LOC130000119 +703 more | Copy number gain | See cases | |
| | LOC110121192, LOC110121196 +3656 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC132089594, LOC132089595 +663 more | Copy number gain | See cases | |
| | LOC129999968, LOC129999969 +855 more | Copy number gain | See cases | |
| | LOC130000005, LOC130000006 +868 more | Copy number gain | See cases | |