| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | EPS8L3, LOC126805823 (E469K +3 more) | Single nucleotide variant (missense variant) | EPS8L3-related disorder +1 more | |
| | EPS8L3, LOC126805823 (T487I +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | EPS8L3, LOC126805823 (M494I +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | EPS8L3, LOC126805823 (R500S +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | EPS8L3, LOC126805823 (R561H +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | EPS8L3, LOC126805823 (G493R +3 more) | Single nucleotide variant (missense variant) | EPS8L3-related disorder +1 more | |
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