| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Hydrocephalus, nonsyndromic, autosomal recessive 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hydrocephalus, nonsyndromic, autosomal recessive 1 | |
| | | Single nucleotide variant (intron variant) | Hydrocephalus, nonsyndromic, autosomal recessive 1 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Hydrocephalus, nonsyndromic, autosomal recessive 1 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 40 | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 40 | |
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