Links from MedGen
Items: 8
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (splice donor variant) | Microcephaly, short stature, and limb abnormalities +1 more | |
| | | | Microcephaly, short stature, and limb abnormalities | |
| | | Single nucleotide variant (missense variant) | Microcephaly-micromelia syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Microcephaly-micromelia syndrome +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Microcephaly, short stature, and limb abnormalities +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly, short stature, and limb abnormalities | |
| | | Single nucleotide variant (intron variant) | Microcephaly-micromelia syndrome | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Microcephaly-micromelia syndrome +3 more | GPathogenic/Likely pathogenic |
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