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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FLI1
(R337W +3 more)
Single nucleotide variant
(missense variant)
Bleeding disorder, platelet-type, 21
GLikely pathogenic
FLI1
(R337Q +3 more)
Single nucleotide variant
(missense variant)
11q partial monosomy syndrome
+1 more
GConflicting classifications of pathogenicity