| | CTBP1, CTBP1-AS (V416I +3 more) | Single nucleotide variant (missense variant +1 more) | Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome +1 more | |
| | CTBP1-AS, CTBP1 (V359M +1 more) | Single nucleotide variant (missense variant) | Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome | |
| | CTBP1, CTBP1-AS (R331W +1 more) | Single nucleotide variant (missense variant) | Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome +2 more | |
| | CTBP1, CTBP1-AS (G238S +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome | |
| | CTBP1, CTBP1-AS (R173C +1 more) | Single nucleotide variant (missense variant +1 more) | Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome | |
| | | Single nucleotide variant (missense variant) | Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome | |
| | | Single nucleotide variant (missense variant) | Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome | |