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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ITGB3
(D250G)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GLikely pathogenic
ITGB3
(Q567*)
Single nucleotide variant
(nonsense)
Glanzmann thrombasthenia
GPathogenic