Links from MedGen
Items: 11
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ATXN7L3-AS1, UBTF (E709K +1 more) | Single nucleotide variant (missense variant +1 more) | Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | |
| | ATXN7L3-AS1, UBTF (N727T +1 more) | Single nucleotide variant (missense variant +1 more) | Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | |
| | ATXN7L3-AS1, LOC121587595
+1 more (G363V +1 more) | Single nucleotide variant (missense variant +1 more) | Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | |
| | ATXN7L3-AS1, UBTF (D644del +1 more) | Microsatellite (inframe_deletion +1 more) | Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | |
| | ATXN7L3-AS1, UBTF (D225fs +1 more) | Indel (frameshift variant +1 more) | Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | |
| | ATXN7L3-AS1, UBTF (K587R +1 more) | Single nucleotide variant (missense variant +1 more) | Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | |
| | ATXN7L3-AS1, UBTF (D701G +1 more) | Single nucleotide variant (missense variant +1 more) | Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Rare syndromic intellectual disability +6 more | GPathogenic/Likely pathogenic |
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