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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
JAK2, ZBTB20
Translocation
Eosinophilia
+2 more
GLikely pathogenic
NF1
Single nucleotide variant
(intron variant)
not provided
+2 more
GPathogenic/Likely pathogenic
LOC107982234, WT1
(A51fs)
Deletion
(frameshift variant +1 more)
Drash syndrome
+5 more
GConflicting classifications of pathogenicity
PALB2
Inversion
Hereditary cancer-predisposing syndrome
+6 more
GPathogenic
ERCC4
(T495fs)
Deletion
(frameshift variant)
Precursor B-cell acute lymphoblastic leukemia
GPathogenic
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