| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC126806278, VWA3B (K326R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | VWA3B-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Spinocerebellar ataxia, autosomal recessive 22 | |
| | LOC126806278, VWA3B (V302A) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number loss | not specified | |
| | LOC126806278, VWA3B (E297K) | Single nucleotide variant (missense variant +1 more) | not provided | |
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