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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VPS45
(G21D)
Single nucleotide variant
(non-coding transcript variant +3 more)
not provided
GUncertain significance
VPS45
(C172R +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
+2 more
GUncertain significance
VPS45
(E189G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
VPS45
(I203V +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
VPS45
(A287T +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
+1 more
GUncertain significance
VPS45
(R361Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
VPS45
(S399R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
VPS45
(S473I +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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