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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ITGB2
(E665* +1 more)
Single nucleotide variant
(nonsense)
Leukocyte adhesion deficiency 1
GPathogenic/Likely pathogenic
ITGB2
(Q371H +1 more)
Single nucleotide variant
(missense variant)
Leukocyte adhesion deficiency 1
GConflicting classifications of pathogenicity
ITGB2
(G284S +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
ITGB2
(P178L +1 more)
Single nucleotide variant
(missense variant)
Leukocyte adhesion deficiency 1
GPathogenic
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