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Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
USB1
(G59fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
USB1
(P60fs +1 more)
Deletion
(frameshift variant)
Poikiloderma with neutropenia
GPathogenic
USB1
(R78* +1 more)
Single nucleotide variant
(nonsense)
Poikiloderma with neutropenia
Gnot provided
USB1
(W81* +1 more)
Single nucleotide variant
(nonsense)
Poikiloderma with neutropenia
GPathogenic
USB1
(Y86* +1 more)
Single nucleotide variant
(nonsense)
Poikiloderma with neutropenia
Gnot provided
USB1
Single nucleotide variant
(splice donor variant)
Poikiloderma with neutropenia
Gnot provided
USB1
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
USB1
(Y89* +1 more)
Single nucleotide variant
(nonsense)
Poikiloderma with neutropenia
Gnot provided
USB1
(R112fs +1 more)
Duplication
(frameshift variant)
Poikiloderma with neutropenia
GUncertain significance
USB1
(Q139* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
USB1
Single nucleotide variant
(splice acceptor variant +1 more)
Poikiloderma with neutropenia
Gnot provided
USB1
(N163fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
USB1
(T116fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
USB1
(R168G +1 more)
Single nucleotide variant
(missense variant +1 more)
Poikiloderma with neutropenia
GPathogenic
USB1
Single nucleotide variant
(splice acceptor variant)
Poikiloderma with neutropenia
GPathogenic
USB1
(L173R +2 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
USB1
(H128fs +2 more)
Deletion
(frameshift variant)
Poikiloderma with neutropenia
GPathogenic
USB1
(Q130* +2 more)
Single nucleotide variant
(nonsense)
Poikiloderma with neutropenia
GPathogenic
USB1
Single nucleotide variant
(splice donor variant)
Poikiloderma with neutropenia
Gnot provided
USB1
(H157R +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
USB1
(Q207* +2 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
USB1
Deletion
(splice donor variant)
Poikiloderma with neutropenia
GPathogenic
USB1
Single nucleotide variant
(splice donor variant)
Poikiloderma with neutropenia
Gnot provided
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