GET-Evidence: Search

VariantImpactInheritance patternSummaryGenomes
JAK2 L393Vinsufficiently evaluated not reviewed, f=0.014unknown CGI sample GS00253-DNA_C01_200_37
JAK2 N515Sinsufficiently evaluated not reviewedunknown
JAK2 K539Linsufficiently evaluated pathogenicunknown

(147 web hits)

JAK2 K607Ninsufficiently evaluated pathogenicunknown

(41 web hits)

JAK2 V617Fpathogenic, f=0.000dominant

This well known variant is associated with myeloproliferative diseases: it is used as a diagnostic, providing supporting evidence in individuals who already have symptoms. It is seen as an acquired (not inherited) mutation, one of an accumulation of changes that leads to the development of these cancer-like diseases. It is possible to see this variant in whole genome data or genotyping from blood-derived DNA — but it is unclear how to view the presence of the variant in individuals who don’t have symptoms of the disease. Data from Nielsen et al. suggests that such carriers are at much higher risk of developing myeloproliferative disease or other blood cancer (with roughly 50% of still-living individuals developing these diseases by around 10 years after initial samples — but these numbers are extremely uncertain).

(65200 web hits)

CGI sample GS000006909
JAK2 L712Pinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_H05 from PGP sample 10971581
JAK2 L732Vinsufficiently evaluated not reviewedunknown
JAK2 T1049Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS18942-1100-36-ASM
JAK2 R1063Hinsufficiently evaluated not reviewed, f=0.004unknown hu232307 build 36 substitution variants
JAK2 H1077Rinsufficiently evaluated not reviewedunknown
JAK2 D1096Einsufficiently evaluated none, f=0.005unknown
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Total results: 11

Gene search

"GENE" or "GENE A123C":

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