| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | not provided +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Global developmental delay +14 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Progressive sclerosing poliodystrophy +12 more | |
| | | Single nucleotide variant (missense variant) | Progressive sclerosing poliodystrophy +15 more | GConflicting classifications of pathogenicity |
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