| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | ETV6, LOC126861452 (L288Q +3 more) | Single nucleotide variant (missense variant +1 more) | ETV6-related disorder | |
| | ETV6, LOC126861452 (R378Q) | Single nucleotide variant (missense variant) | ETV6-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | ETV6-related disorder +2 more | |
Click to view in NCBI Gene