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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VPS45
(T224N +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GPathogenic
VPS45
(P272T +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
GUncertain significance