| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | |
| | LOC130000726, OTUD6B (L5F) | Single nucleotide variant (5 prime UTR variant +1 more) | OTUD6B-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | LOC130000726, OTUD6B (L15V) | Single nucleotide variant (5 prime UTR variant +1 more) | OTUD6B-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | |
| | LOC130000726, OTUD6B (L9V) | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | LOC130000726, OTUD6B (E7*) | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | |
| | | Single nucleotide variant (nonsense) | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | |
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