GET-Evidence: Search

VariantImpactInheritance patternSummaryGenomes
JAK3 Y100Cinsufficiently evaluated pathogenicunknown

(29 web hits)

JAK3 P132Tinsufficiently evaluated not reviewed, f=0.029unknown var-GS18504-1100-36-ASM (hom)
JAK3 P151Runcertain benignunknown

Reported in ClinVar to cause Severe Combined Immunodeficiency Disease (aka “bubble boy disease”). However the variant is carried by nearly 1 in 100 individuals with European ancestry, and 1 in 12,000 are predicted to be homozygous. The disease is extremely rare — highest estimate is 1 in 50,000 — the high frequency of this variant means it cannot be a cause of this disease.

CGI sample GS01173-DNA_A07 from PGP sample 96240009
JAK3 D169Einsufficiently evaluated pathogenic, f=0.000unknown

(19 web hits)

JAK3 R445Xinsufficiently evaluated pathogenicunknown

(4 web hits)

JAK3 K482Winsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
hu34D5B9 exome
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01669-DNA_A04 from PGP sample 08188426
JAK3 H529Rinsufficiently evaluated not reviewed, f=0.000unknown var-GS19669-1100-36-ASM
JAK3 C565Xinsufficiently evaluated pathogenicunknown

(3 web hits)

Total results: 8

Gene search

"GENE" or "GENE A123C":

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