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Items: 26

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
JAK3
(A1090T)
Single nucleotide variant
(missense variant)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GBenign
JAK3
(R925S)
Single nucleotide variant
(missense variant)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GLikely benign
JAK3
Single nucleotide variant
(intron variant)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GLikely pathogenic
JAK3
(H879R)
Single nucleotide variant
(missense variant)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GLikely benign
JAK3
Single nucleotide variant
(synonymous variant)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GBenign
JAK3
(R775C)
Single nucleotide variant
(missense variant)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GUncertain significance
JAK3
(V773I)
Single nucleotide variant
(missense variant)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GUncertain significance
JAK3
(R771*)
Single nucleotide variant
(nonsense)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GPathogenic
JAK3
(P764L)
Single nucleotide variant
(missense variant)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GUncertain significance
JAK3
(V722I)
Single nucleotide variant
(missense variant)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GBenign
JAK3
Single nucleotide variant
(splice acceptor variant)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GUncertain significance
JAK3
(R615C)
Single nucleotide variant
(missense variant)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GBenign
JAK3
(R613*)
Single nucleotide variant
(nonsense)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GPathogenic
JAK3
(V599G)
Single nucleotide variant
(missense variant)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GUncertain significance
JAK3
(R582W)
Single nucleotide variant
(missense variant)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GLikely pathogenic
JAK3
(R451*)
Single nucleotide variant
(nonsense)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GPathogenic
JAK3
(G313E)
Single nucleotide variant
(missense variant)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GLikely benign
JAK3
(V299A)
Single nucleotide variant
(missense variant)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GUncertain significance
JAK3
Deletion
(frameshift variant)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GPathogenic
JAK3
(V217M)
Single nucleotide variant
(missense variant)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GLikely benign
JAK3
(P151R)
Single nucleotide variant
(missense variant)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GBenign
JAK3
(P132T)
Single nucleotide variant
(missense variant)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GBenign
JAK3
(R121H)
Single nucleotide variant
(missense variant)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GLikely benign
JAK3
(R117C)
Single nucleotide variant
(missense variant)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GUncertain significance
JAK3
(I63V)
Single nucleotide variant
(missense variant)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GLikely benign
JAK3
(K59*)
Single nucleotide variant
(nonsense)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GLikely pathogenic
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