| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures | |
| | AGO1, LOC126805695 (T230A +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | AGO1, LOC126805695 (R210C +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | AGO1, LOC126805695 (E228K +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | AGO1, LOC129930123 (V179I +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | AGO1, LOC129930123 (R178H +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | See cases | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion | Gestational diabetes mellitus uncontrolled | |
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