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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ITGB2
(R593C +1 more)
Single nucleotide variant
(missense variant)
Leukocyte adhesion deficiency 1
+1 more
GPathogenic
ITGB2
(R586W +1 more)
Single nucleotide variant
(missense variant +1 more)
Leukocyte adhesion deficiency 1
GPathogenic
ITGB2
(N351S +1 more)
Single nucleotide variant
(missense variant)
Leukocyte adhesion deficiency 1
GPathogenic
ITGB2
Single nucleotide variant
(splice donor variant)
Leukocyte adhesion deficiency 1
GPathogenic/Likely pathogenic
ITGB2
(G284S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
ITGB2
(G273R +1 more)
Single nucleotide variant
(missense variant)
Leukocyte adhesion deficiency 1
+1 more
GPathogenic/Likely pathogenic
ITGB2
(K196T +1 more)
Single nucleotide variant
(missense variant)
Leukocyte adhesion deficiency 1
GPathogenic
ITGB2
(P178L +1 more)
Single nucleotide variant
(missense variant)
Leukocyte adhesion deficiency 1
GPathogenic
ITGB2
(G169R +1 more)
Single nucleotide variant
(missense variant)
Leukocyte adhesion deficiency 1
GPathogenic
ITGB2
Deletion
(splice acceptor variant)
Leukocyte adhesion deficiency 1
GPathogenic
ITGB2
(L149P +1 more)
Single nucleotide variant
(missense variant)
Leukocyte adhesion deficiency 1
GPathogenic
ITGB2
(S138P +1 more)
Single nucleotide variant
(missense variant)
Leukocyte adhesion deficiency 1
GPathogenic
ITGB2
(D128N +1 more)
Single nucleotide variant
(missense variant)
Leukocyte adhesion deficiency 1
GPathogenic
ITGB2
(M1K)
Single nucleotide variant
(missense variant +2 more)
Leukocyte adhesion deficiency 1
GPathogenic
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