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Links from MedGen

Items: 1 to 100 of 1096

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
JAK3
Deletion
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GPathogenic
JAK3
Deletion
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GPathogenic
JAK3
Deletion
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GPathogenic
JAK3
Deletion
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GPathogenic
JAK3
(E1019K)
Single nucleotide variant
(missense variant)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GLikely pathogenic
JAK3
(A220P)
Single nucleotide variant
(missense variant)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GUncertain significance
JAK3
(R870L)
Single nucleotide variant
(missense variant)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GUncertain significance
JAK3
Single nucleotide variant
(synonymous 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 benign
JAK3
Single nucleotide variant
(intron 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 benign
JAK3
Single nucleotide variant
(intron 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
GLikely benign
JAK3
Single nucleotide variant
(synonymous 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
GLikely benign
JAK3
Single nucleotide variant
(synonymous 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 benign
JAK3
Single nucleotide variant
(synonymous 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 benign
JAK3
Single nucleotide variant
(intron variant)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GLikely benign
JAK3
Single nucleotide variant
(splice acceptor variant)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GPathogenic
JAK3
Single nucleotide variant
(synonymous variant)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GLikely benign
JAK3
(M760T)
Single nucleotide variant
(missense variant)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GUncertain significance
JAK3
Single nucleotide variant
(intron variant)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GLikely benign
JAK3
Duplication
(intron variant)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GBenign
JAK3
Deletion
(intron variant)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GUncertain significance
JAK3
Single nucleotide variant
(synonymous 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
GLikely benign
JAK3
Single nucleotide variant
(synonymous 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 benign
JAK3
Single nucleotide variant
(synonymous 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
GLikely benign
JAK3
Single nucleotide variant
(synonymous 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 benign
JAK3
Single nucleotide variant
(synonymous 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
GLikely benign
JAK3
Single nucleotide variant
(synonymous 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 benign
JAK3
Single nucleotide variant
(synonymous 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 benign
JAK3
Single nucleotide variant
(synonymous variant)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GLikely benign
JAK3
(W993*)
Single nucleotide variant
(nonsense)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GPathogenic
JAK3
Single nucleotide variant
(intron 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 benign
JAK3
Single nucleotide variant
(synonymous 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
GLikely benign
JAK3
Single nucleotide variant
(synonymous 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
GLikely benign
JAK3
Single nucleotide variant
(synonymous variant)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GLikely benign
JAK3
Single nucleotide variant
(splice donor variant)
T-B+ severe combined immunodeficiency due to JAK3 deficiency
GLikely pathogenic
JAK3
Single nucleotide variant
(intron 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
GLikely benign
JAK3
Single nucleotide variant
(synonymous 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 benign
JAK3
Single nucleotide variant
(synonymous 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 benign
JAK3
Single nucleotide variant
(intron 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 benign
JAK3
Single nucleotide variant
(intron 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 benign
JAK3
Single nucleotide variant
(synonymous 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
GLikely benign
JAK3
Single nucleotide variant
(synonymous 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
GLikely benign
JAK3
Single nucleotide variant
(intron 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 benign
JAK3
Single nucleotide variant
(intron 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 benign
JAK3
Single nucleotide variant
(intron 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 benign
JAK3
Single nucleotide variant
(intron 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 benign
JAK3
Single nucleotide variant
(intron 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 benign
JAK3
Single nucleotide variant
(synonymous 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 benign
JAK3
Single nucleotide variant
(intron 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
GLikely benign
JAK3
Single nucleotide variant
(intron 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
GLikely benign
JAK3
Single nucleotide variant
(intron 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 benign
JAK3
Single nucleotide variant
(synonymous 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 benign
JAK3
Deletion
(intron 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
GLikely benign
JAK3
Single nucleotide variant
(intron 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
GLikely benign
JAK3
Single nucleotide variant
(synonymous 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
GLikely benign
JAK3
Single nucleotide variant
(intron 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 benign
JAK3
Single nucleotide variant
(synonymous 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
GLikely benign
JAK3
Single nucleotide variant
(synonymous 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
GLikely benign
JAK3
Single nucleotide variant
(intron 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 benign
JAK3
Single nucleotide variant
(synonymous 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 benign
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