| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | not provided | |
| | ETV6, LOC126861452 (R251* +3 more) | Single nucleotide variant (nonsense +1 more) | not provided | |
| | ETV6, LOC126861452 (D351G) | Single nucleotide variant (missense variant) | not provided | |
| | ETV6, LOC126861452 (R265W +3 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | ETV6, LOC126861452 (R352Q +3 more) | Single nucleotide variant (missense variant) | not provided | |
| | ETV6, LOC126861452 (E267K +3 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | ETV6, LOC126861452 (R359* +3 more) | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Thrombocytopenia 5 +3 more | GPathogenic/Likely pathogenic |
| | ETV6, LOC126861452 (R378Q) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | ETV6, LOC126861452 (G381E) | Single nucleotide variant (missense variant) | not provided | |
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