| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | SPTBN1, SPTBN1-AS2 (M2295V) | Single nucleotide variant (missense variant) | Developmental delay, impaired speech, and behavioral abnormalities | |
| | SPTBN1, SPTBN1-AS2 (P2342A) | Single nucleotide variant (missense variant) | Developmental delay, impaired speech, and behavioral abnormalities | |
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