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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ITGB3
(C31fs)
Deletion
(frameshift variant)
not provided
GPathogenic/Likely pathogenic
ITGB3
(L222P)
Single nucleotide variant
(missense variant)
Glanzmann thrombasthenia
GPathogenic
ITGB3
(D362N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ITGB3
(I370T)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
EFCAB13-DT, ITGB3
(D749N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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