| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (nonsense +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (splice donor variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | |
| | | Single nucleotide variant (missense variant +2 more) | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | |
| | | Single nucleotide variant (nonsense +1 more) | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | |
| | | Single nucleotide variant (intron variant) | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | |
| | | Microsatellite (intron variant) | Schizophrenia | |
| | | Deletion (frameshift variant +2 more) | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Intellectual disability +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
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