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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
INSL6, JAK2
(G48E)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
JAK2, INSL6
(L393V +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GConflicting classifications of pathogenicity
INSL6, JAK2
(G516fs +2 more)
Duplication
(frameshift variant +1 more)
not provided
GUncertain significance
INSL6, JAK2
(N273T +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
INSL6, JAK2
(S350R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
INSL6, JAK2
(L425V +2 more)
Indel
(missense variant +1 more)
not provided
GUncertain significance
INSL6, JAK2
(T483S +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
INSL6, JAK2
(N1108S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
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