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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ITGA2B
Deletion
(inframe_deletion)
Glanzmann thrombasthenia 1
GUncertain significance
ITGA2B
(D542N)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia 1
GUncertain significance
ITGA2B
(R358H)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GPathogenic
ITGA2B, LOC130060983
Single nucleotide variant
(intron variant)
Glanzmann thrombasthenia
GUncertain significance
ITGA2B
(L8fs)
Deletion
(frameshift variant)
Glanzmann thrombasthenia 1
GPathogenic
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