| | | Copy number loss | not specified | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant) | Autism | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | DPYSL3, STK32A (S433A +1 more) | 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 | |
| | STK32A, DPYSL3 (R520W +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | STK32A, DPYSL3 (R563H +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | DPYSL3, STK32A (M453I +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | DPYSL3, STK32A (D590N +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | STK32A, DPYSL3 (V494I +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | STK32A, DPYSL3 (G611V +1 more) | 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 | |
| | DPYSL3, STK32A (D367N +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | C5orf24, C5orf34 +600 more | Deletion | Neurodevelopmental disorder | |
| | | Deletion | Hereditary cancer-predisposing syndrome +1 more | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | LOC129994934, LOC129994935 +313 more | Copy number gain | See cases | |
| | LOC129995052, LOC129995053 +1157 more | Copy number gain | See cases | |
| | DPYSL3, LOC108660405 +7 more | Copy number gain | See cases | |
| | C5orf46, CTB-99A3.1 +82 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |