| | | Copy number loss | See cases | |
| | LOC126806416, LOC126806417 +591 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129935413, LOC129935414 +1097 more | Copy number gain | See cases | |
| | LOC129935268, LOC129935269 +329 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | FAM117B, FAM237A +509 more | Copy number loss | See cases | |
| | ANKRD44, ANKRD44-AS1 +118 more | Copy number loss | See cases | |
| | LOC126806461, LOC126806467 +1299 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Neurodevelopmental disorder with hypotonia, seizures, and absent language | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, seizures, and absent language | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, seizures, and absent language +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, seizures, and absent language | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, seizures, and absent language +1 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, seizures, and absent language | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, seizures, and absent language | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Developmental disorder | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, seizures, and absent language | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, seizures, and absent language | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, seizures, and absent language | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, seizures, and absent language | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, seizures, and absent language | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, seizures, and absent language | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, seizures, and absent language | |
| | | Single nucleotide variant (missense variant) | See cases | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, seizures, and absent language | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, seizures, and absent language | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | HECW2-related condition | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | HECW2-related condition +1 more | |
| | | Single nucleotide variant (splice donor variant) | Neurodevelopmental disorder with hypotonia, seizures, and absent language | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, seizures, and absent language | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, seizures, and absent language +2 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, seizures, and absent language | |
| | | Single nucleotide variant (synonymous variant) | HECW2-related condition | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, seizures, and absent language | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | HECW2-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion | HECW2-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, seizures, and absent language | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, seizures, and absent language | |
| | | Single nucleotide variant (missense variant) | HECW2-related condition +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, seizures, and absent language | |
| | | Single nucleotide variant (synonymous variant) | HECW2-related condition | |
| | | Single nucleotide variant (missense variant) | HECW2-related neurodevelopmental disorder | |
| | | Single nucleotide variant (missense variant) | HECW2-related condition | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, seizures, and absent language | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, seizures, and absent language | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Neurodevelopmental disorder with hypotonia, seizures, and absent language | |
| | | Variation (no sequence alteration) | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Oromandibular-limb hypogenesis spectrum | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, seizures, and absent language | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with hypotonia, seizures, and absent language | |