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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TUBB1
Single nucleotide variant
(splice donor variant)
Macrothrombocytopenia, isolated, 1, autosomal dominant
GLikely pathogenic
TUBB1
(M257V)
Single nucleotide variant
(missense variant)
Macrothrombocytopenia, isolated, 1, autosomal dominant
GUncertain significance