| | | Copy number gain | not specified | |
| | FAM149A, FAM218A +197 more | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | NUDT6-related condition | |
| | FGF2, NUDT6 (A255V +1 more) | Single nucleotide variant (missense variant +1 more) | NUDT6-related condition | |
| | FGF2, NUDT6 (T257I +1 more) | Single nucleotide variant (missense variant +1 more) | NUDT6-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | NUDT6-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | NUDT6-related condition | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | FGF2, NUDT6 (V36F +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Deletion | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | |
| | | Duplication | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | FGF2, NUDT6 (R190Q +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | |
| | | Copy number loss | Delayed speech and language development +1 more | |
| | | Copy number loss | not provided | |
| | | Deletion | Neurodevelopmental disorder | |
| | | 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 | |
| | | Copy number loss | See cases | |
| | LOC123480933, LOC123480934 +420 more | Copy number loss | See cases | |
| | LOC132089056, LOC132089057 +1245 more | Copy number gain | See cases | |
| | LOC123493236, LOC123493237 +1310 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |