| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CTBP1-AS, CTBP1 (P194S +1 more) | Single nucleotide variant (missense variant +1 more) | Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome | |
| | CTBP1, CTBP1-AS (R181W +1 more) | Single nucleotide variant (missense variant +1 more) | Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome | |
| | JAKMIP1, KIAA0232
+90 more | Copy number loss | 4p partial monosomy syndrome | |
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