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Links from Gene

Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ITGB2
Deletion
Leukocyte adhesion deficiency 1
GPathogenic
ITGB2
Single nucleotide variant
(5 prime UTR variant +1 more)
Leukocyte adhesion deficiency 1
GLikely pathogenic
ITGB2
(R693* +1 more)
Single nucleotide variant
(nonsense)
Leukocyte adhesion deficiency 1
GLikely pathogenic
ITGB2, ITGB2-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Leukocyte adhesion deficiency 1
GUncertain significance
ITGB2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ITGB2
(C403fs +1 more)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
ITGB2
Single nucleotide variant
(splice donor variant)
Leukocyte adhesion deficiency 1
GPathogenic
ITGB2
(N282fs +1 more)
Deletion
(frameshift variant)
Leukocyte adhesion deficiency 1
GPathogenic
ITGB2
(G236R +1 more)
Single nucleotide variant
(missense variant)
Leukocyte adhesion deficiency 1
GLikely pathogenic
ITGB2
(N124fs +1 more)
Duplication
(frameshift variant)
Leukocyte adhesion deficiency 1
GPathogenic
ITGB2
(K567fs +1 more)
Deletion
(frameshift variant)
Leukocyte adhesion deficiency 1
GPathogenic
ITGB2
Single nucleotide variant
(splice donor variant)
Leukocyte adhesion deficiency 1
GPathogenic
ITGB2
(Y382fs +1 more)
Deletion
(frameshift variant)
Leukocyte adhesion deficiency 1
GPathogenic
ITGB2
(E344* +1 more)
Single nucleotide variant
(nonsense)
Leukocyte adhesion deficiency 1
GPathogenic
ITGB2
(D300V +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
ITGB2
(G716A +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
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