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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)
Poikiloderma with neutropenia
+1 more
GLikely benign
LOC112469011, USB1
(M1V)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
USB1
Duplication
Poikiloderma with neutropenia
GPathogenic
USB1
Single nucleotide variant
(intron variant)
not provided
+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)
Poikiloderma with neutropenia
+1 more
GUncertain significance
USB1
(R19Q +1 more)
Single nucleotide variant
(missense variant)
Poikiloderma with neutropenia
+1 more
GUncertain significance
USB1
(M262V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+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 specified
+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
GLikely pathogenic
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
Gnot provided
USB1
(Y89* +1 more)
Single nucleotide variant
(nonsense)
Poikiloderma with neutropenia
Gnot provided
USB1
Single nucleotide variant
(splice acceptor variant)
not provided
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)
Poikiloderma with neutropenia
+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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