| | LOC125048431, LOC125048432 +3280 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130056672, LOC130056673 +1071 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | IGHD3-22, IGHD3-3 +670 more | Copy number gain | See cases | |
| | LINC00677, LINC01550 +666 more | Copy number loss | See cases | |
| | LOC130056627, LOC130056628 +653 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130056617, LOC130056618 +571 more | Copy number loss | See cases | |
| | LOC130056492, LOC130056485 +561 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LINC00605, LINC00677 +416 more | Copy number loss | See cases | |
| | LOC105378183, LOC112163684 +164 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | MIR4538, MIR4539 +397 more | Copy number loss | Neurodevelopmental disorder | |
| | | Deletion | Mitochondrial complex 4 deficiency, nuclear type 17 | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (splice acceptor variant) | Imerslund-Grasbeck syndrome type 2 +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | CDC42BPB-related disorder | |
| | | Single nucleotide variant (missense variant) | CDC42BPB-related disorder | |
| | | Single nucleotide variant (missense variant) | Chilton-Okur-Chung neurodevelopmental syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication (frameshift variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | CDC42BPB-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | 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 (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | See cases | |
| | | Single nucleotide variant (synonymous variant) | CDC42BPB-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | CDC42BPB-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder | |
| | | 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 (synonymous variant) | CDC42BPB-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | CDC42BPB-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Chilton-Okur-Chung neurodevelopmental syndrome | |
| | | Single nucleotide variant (missense variant) | CDC42BPB-related disorder | |
| | | Single nucleotide variant (missense variant) | CDC42BPB-related neurodevelopmental syndrome | |
| | | Single nucleotide variant (synonymous variant) | CDC42BPB-related disorder | |
| | | Single nucleotide variant (missense variant) | CDC42BPB-related disorder | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | CDC42BPB-related disorder | |
| | | Single nucleotide variant (synonymous variant) | CDC42BPB-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | CDC42BPB-related neurodevelopmental syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CDC42BPB, LOC126862066 (R1243Q +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CDC42BPB, LOC126862066 (E1240Q +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CDC42BPB, LOC126862066 (L1262F +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CDC42BPB, LOC126862066 (G1231S +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Chilton-Okur-Chung neurodevelopmental syndrome | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder | |
| | | Single nucleotide variant (missense variant) | See cases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |