Links from Orgtrack
Items: 13
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CUX1, LOC126860127
+1 more | Translocation | Global developmental delay with or without impaired intellectual development | |
| | | Duplication (frameshift variant) | Rhizomelic limb shortening with dysmorphic features | |
| | | Deletion (frameshift variant) | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | |
| | | Deletion (frameshift variant) | Microcephaly +2 more | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (nonsense) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +4 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive nonsyndromic hearing loss 89 | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 2 +1 more | GConflicting classifications of pathogenicity |
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