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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
JAK2, INSL6
(G127D)
Single nucleotide variant
(missense variant +2 more)
not provided
+6 more
GBenign/Likely benign
INSL6, JAK2
Single nucleotide variant
(intron variant)
Acquired polycythemia vera
+6 more
GConflicting classifications of pathogenicity
INSL6, JAK2
(V617F +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+6 more
GPathogenic/Likely pathogenic
INSL6, JAK2
(R1063H +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+7 more
GBenign/Likely benign
SH2B3
(W262R +1 more)
Single nucleotide variant
(missense variant)
Thrombocythemia 1
+3 more
GBenign
SH2B3
(E198K +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
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