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Items: 26

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CUBN
Single nucleotide variant
(synonymous variant)
Imerslund-Grasbeck syndrome type 1
+2 more
GConflicting classifications of pathogenicity
CUBN
(S3369G)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 1
+3 more
GUncertain significance
CUBN
(G2691R)
Single nucleotide variant
(missense variant)
Proteinuria, chronic benign
+3 more
GUncertain significance
CUBN
(I2613L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CUBN
(N2320S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUBN
(W2306R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUBN
(P2255L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUBN
Single nucleotide variant
(splice acceptor variant)
Imerslund-Grasbeck syndrome
+1 more
GUncertain significance
CUBN
(T2031A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
CUBN
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CUBN
(A1920T)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 1
+3 more
GUncertain significance
CUBN
(Y1913C)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome
+1 more
GUncertain significance
CUBN
(S1876A)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome
+1 more
GUncertain significance
CUBN
(A1690V)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
CUBN
(R1613L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
CUBN
(L1557F)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 1
+2 more
GConflicting classifications of pathogenicity
CUBN
(T1423M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CUBN
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GLikely pathogenic
CUBN
(R1275W)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 1
+3 more
GUncertain significance
CUBN
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CUBN
(Y1039C)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 1
+3 more
GUncertain significance
CUBN
(N918S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUBN
(S913T)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome
+3 more
GUncertain significance
CUBN
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CUBN
(M2V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CUBN
(M1I)
Single nucleotide variant
(missense variant +1 more)
Imerslund-Grasbeck syndrome
+1 more
GConflicting classifications of pathogenicity
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