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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RUNX1
(S397A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RUNX1
(V392G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RUNX1
(R293fs +1 more)
Insertion
(frameshift variant)
not provided
GPathogenic
RUNX1
(P263S +1 more)
Single nucleotide variant
(missense variant)
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
GUncertain significance
RUNX1
(R180G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RUNX1
Duplication
(splice donor variant)
not provided
GUncertain significance
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