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Links from MedGen

Items: 1 to 100 of 725

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ITGB2
Deletion
Leukocyte adhesion deficiency 1
GPathogenic
ITGB2
(R381W +1 more)
Single nucleotide variant
(missense variant)
Leukocyte adhesion deficiency 1
GUncertain significance
ITGB2
Single nucleotide variant
(intron variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
Single nucleotide variant
(synonymous variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
Single nucleotide variant
(intron variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
Single nucleotide variant
(intron variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
Single nucleotide variant
(intron variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
Single nucleotide variant
(synonymous variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
Single nucleotide variant
(synonymous variant +1 more)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
Deletion
(intron variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
Single nucleotide variant
(intron variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
Single nucleotide variant
(synonymous variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
(Q491* +1 more)
Single nucleotide variant
(nonsense)
Leukocyte adhesion deficiency 1
GPathogenic
ITGB2
Single nucleotide variant
(synonymous variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
Single nucleotide variant
(intron variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
Single nucleotide variant
(synonymous variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
Single nucleotide variant
(intron variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
Single nucleotide variant
(synonymous variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
Single nucleotide variant
(synonymous variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
Single nucleotide variant
(intron variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
Single nucleotide variant
(synonymous variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
Single nucleotide variant
(intron variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
Single nucleotide variant
(synonymous variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
Single nucleotide variant
(intron variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
(I319fs +1 more)
Deletion
(frameshift variant)
Leukocyte adhesion deficiency 1
GPathogenic
ITGB2
Single nucleotide variant
(synonymous variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
Single nucleotide variant
(intron variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
Single nucleotide variant
(synonymous variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
Single nucleotide variant
(synonymous variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
Single nucleotide variant
(synonymous variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
Single nucleotide variant
(intron variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
Single nucleotide variant
(intron variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
Single nucleotide variant
(synonymous variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
Single nucleotide variant
(synonymous variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
(C62fs)
Deletion
(frameshift variant +1 more)
Leukocyte adhesion deficiency 1
GPathogenic
ITGB2
Single nucleotide variant
(intron variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
Single nucleotide variant
(intron variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
(C217fs +1 more)
Duplication
(frameshift variant)
Leukocyte adhesion deficiency 1
GPathogenic
ITGB2
Single nucleotide variant
(intron variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
Single nucleotide variant
(synonymous variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
Single nucleotide variant
(intron variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
(N145fs +1 more)
Deletion
(frameshift variant)
Leukocyte adhesion deficiency 1
GPathogenic
ITGB2
Single nucleotide variant
(synonymous variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
(Q19R +1 more)
Single nucleotide variant
(missense variant)
Leukocyte adhesion deficiency 1
GUncertain significance
ITGB2
(F357fs +1 more)
Deletion
(frameshift variant)
Leukocyte adhesion deficiency 1
GPathogenic
ITGB2
Single nucleotide variant
(intron variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
Single nucleotide variant
(synonymous variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
Single nucleotide variant
(synonymous variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
Single nucleotide variant
(splice donor variant)
Leukocyte adhesion deficiency 1
GLikely pathogenic
ITGB2
Single nucleotide variant
(intron variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
Single nucleotide variant
(synonymous variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
Single nucleotide variant
(intron variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
Single nucleotide variant
(synonymous variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
Single nucleotide variant
(intron variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
Single nucleotide variant
(synonymous variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
Single nucleotide variant
(synonymous variant +1 more)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
Single nucleotide variant
(synonymous variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
Single nucleotide variant
(intron variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
Deletion
(intron variant)
Leukocyte adhesion deficiency 1
GBenign
ITGB2
Single nucleotide variant
(intron variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
(E262K +1 more)
Single nucleotide variant
(missense variant)
Leukocyte adhesion deficiency 1
GUncertain significance
ITGB2
Single nucleotide variant
(synonymous variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
(G42fs)
Deletion
(frameshift variant +1 more)
Leukocyte adhesion deficiency 3
+2 more
GPathogenic/Likely pathogenic
ITGB2
Deletion
Leukocyte adhesion deficiency 1
GPathogenic
ITGB2
Single nucleotide variant
(synonymous variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
(S31N)
Single nucleotide variant
(missense variant +1 more)
Leukocyte adhesion deficiency 1
+1 more
GConflicting classifications of pathogenicity
ITGB2
(G481S +1 more)
Single nucleotide variant
(missense variant)
Leukocyte adhesion deficiency 1
GUncertain significance
ITGB2
Single nucleotide variant
(synonymous variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
(G482S +1 more)
Single nucleotide variant
(missense variant)
Leukocyte adhesion deficiency 1
GUncertain significance
ITGB2
Single nucleotide variant
(synonymous variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
(R597H +1 more)
Single nucleotide variant
(missense variant)
Leukocyte adhesion deficiency 1
+1 more
GUncertain significance
ITGB2
(N540S +1 more)
Single nucleotide variant
(missense variant)
Leukocyte adhesion deficiency 1
GUncertain significance
ITGB2
Single nucleotide variant
(intron variant +1 more)
Leukocyte adhesion deficiency 1
GBenign
ITGB2
Single nucleotide variant
(synonymous variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
Single nucleotide variant
(synonymous variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
(R733Q +1 more)
Single nucleotide variant
(missense variant)
Leukocyte adhesion deficiency 1
GUncertain significance
ITGB2
(L487F +1 more)
Single nucleotide variant
(missense variant)
Leukocyte adhesion deficiency 1
GUncertain significance
ITGB2
Single nucleotide variant
(synonymous variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
Single nucleotide variant
(synonymous variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
Single nucleotide variant
(intron variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
Single nucleotide variant
(synonymous variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
(V370M +1 more)
Single nucleotide variant
(missense variant)
Leukocyte adhesion deficiency 1
GUncertain significance
ITGB2
(E677K +1 more)
Single nucleotide variant
(missense variant)
Leukocyte adhesion deficiency 1
GUncertain significance
ITGB2
(T377I +1 more)
Indel
(missense variant)
Leukocyte adhesion deficiency 1
GUncertain significance
ITGB2
(F395L +1 more)
Single nucleotide variant
(missense variant)
Leukocyte adhesion deficiency 1
GUncertain significance
ITGB2
Single nucleotide variant
(intron variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
(M762R +1 more)
Single nucleotide variant
(missense variant)
Leukocyte adhesion deficiency 1
GUncertain significance
ITGB2
(P569S +1 more)
Single nucleotide variant
(missense variant)
Leukocyte adhesion deficiency 1
GUncertain significance
ITGB2
(F51I)
Single nucleotide variant
(missense variant +1 more)
Leukocyte adhesion deficiency 1
GUncertain significance
ITGB2
Single nucleotide variant
(intron variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
Single nucleotide variant
(intron variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
(V531I +1 more)
Single nucleotide variant
(missense variant)
Leukocyte adhesion deficiency 1
GUncertain significance
ITGB2
(F119V +1 more)
Single nucleotide variant
(missense variant)
Leukocyte adhesion deficiency 1
GUncertain significance
ITGB2
Single nucleotide variant
(intron variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
Single nucleotide variant
(synonymous variant)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
Single nucleotide variant
(synonymous variant +1 more)
Leukocyte adhesion deficiency 1
GLikely benign
ITGB2
(R456H +1 more)
Single nucleotide variant
(missense variant)
Leukocyte adhesion deficiency 1
GUncertain significance
ITGB2
(S387R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ITGB2
(R65W)
Single nucleotide variant
(missense variant +1 more)
Leukocyte adhesion deficiency 1
GUncertain significance
ITGB2
Single nucleotide variant
(intron variant)
Leukocyte adhesion deficiency 1
GLikely benign
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