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Links from MedGen

Items: 37

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
USB1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
USB1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
LOC112469011, USB1
(M1V)
Single nucleotide variant
(missense variant +2 more)
Poikiloderma with neutropenia
+1 more
GUncertain significance
USB1
Duplication
Poikiloderma with neutropenia
GPathogenic
USB1
Single nucleotide variant
(intron variant)
Poikiloderma with neutropenia
+1 more
GBenign
USB1
(M22fs)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
USB1
Single nucleotide variant
(stop lost)
Poikiloderma with neutropenia
GUncertain significance
USB1
(V34I +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
USB1
(R19Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
USB1
(M262V +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
USB1
(S124P +1 more)
Single nucleotide variant
(missense variant)
Poikiloderma with neutropenia
GLikely pathogenic
USB1
(I120T +2 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
USB1
(C214Y +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
USB1
Deletion
(frameshift variant)
Poikiloderma with neutropenia
GLikely pathogenic
USB1
(N163fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
USB1
Single nucleotide variant
(splice donor variant)
Poikiloderma with neutropenia
Gnot provided
USB1
(L173R +2 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
USB1
Single nucleotide variant
(splice acceptor variant +1 more)
Poikiloderma with neutropenia
Gnot provided
USB1
(Q139* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
USB1
(R112fs +1 more)
Duplication
(frameshift variant)
Poikiloderma with neutropenia
GUncertain significance
USB1
(Y89* +1 more)
Single nucleotide variant
(nonsense)
Poikiloderma with neutropenia
Gnot provided
USB1
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic
USB1
Single nucleotide variant
(splice donor variant)
Poikiloderma with neutropenia
Gnot provided
USB1
(Y86* +1 more)
Single nucleotide variant
(nonsense)
Poikiloderma with neutropenia
Gnot provided
USB1
(R78* +1 more)
Single nucleotide variant
(nonsense)
Poikiloderma with neutropenia
Gnot provided
USB1
(G59fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
USB1
Single nucleotide variant
(splice donor variant)
Poikiloderma with neutropenia
Gnot provided
USB1
(Q207* +2 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
USB1
(H157R +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
USB1
(Q130* +2 more)
Single nucleotide variant
(nonsense)
Poikiloderma with neutropenia
GPathogenic
USB1
(H128fs +2 more)
Deletion
(frameshift variant)
Poikiloderma with neutropenia
GPathogenic
USB1
(T116fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
USB1
(W81* +1 more)
Single nucleotide variant
(nonsense)
Poikiloderma with neutropenia
GPathogenic
USB1
(P60fs +1 more)
Deletion
(frameshift variant)
Poikiloderma with neutropenia
GPathogenic
USB1
(R168G +1 more)
Single nucleotide variant
(missense variant +1 more)
Poikiloderma with neutropenia
GPathogenic
USB1
Deletion
(splice donor variant)
Poikiloderma with neutropenia
GPathogenic
USB1
Single nucleotide variant
(splice acceptor variant)
Poikiloderma with neutropenia
GPathogenic
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