| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | not provided +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Progressive sclerosing poliodystrophy +7 more | |
| | | Single nucleotide variant (missense variant) | not provided +12 more | |
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