| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +1 more) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Microcephaly 3, primary, autosomal recessive | |
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly 3, primary, autosomal recessive +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly 3, primary, autosomal recessive | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Microcephaly 3, primary, autosomal recessive | |
| | | Single nucleotide variant (missense variant +2 more) | Microcephaly 3, primary, autosomal recessive | |
| | | Single nucleotide variant (nonsense +1 more) | Microcephaly 3, primary, autosomal recessive | |
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly 3, primary, autosomal recessive | |
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly 3, primary, autosomal recessive | |
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