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Links from MedGen

Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
INSL6, JAK2
Deletion
(inframe_indel +1 more)
Acquired polycythemia vera
GUncertain significance
INSL6, JAK2
(R160T +2 more)
Single nucleotide variant
(missense variant +1 more)
Acquired polycythemia vera
GUncertain significance
ATM
Deletion
Neoplasm of ovary
+2 more
GPathogenic
INSL6, JAK2
Single nucleotide variant
(intron variant)
Acquired polycythemia vera
+7 more
GConflicting classifications of pathogenicity
INSL6, JAK2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC126805749, JAK1
(V658F +1 more)
Single nucleotide variant
(missense variant)
Acquired polycythemia vera
+3 more
GLikely pathogenic
INSL6, JAK2
(G127D)
Single nucleotide variant
(missense variant +2 more)
not provided
+6 more
GBenign/Likely benign
INSL6, JAK2
(R1063H +2 more)
Single nucleotide variant
(missense variant +1 more)
JAK2-related disorder
+8 more
GBenign/Likely benign
INSL6, JAK2
(V617F +2 more)
Single nucleotide variant
(missense variant +1 more)
Thrombocythemia 3
+6 more
GConflicting classifications of pathogenicity
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