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Items: 1 to 100 of 196

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CUBN
(R3618Q)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 1
+2 more
GUncertain significance
CUBN
(R3613H)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome
+2 more
GUncertain significance
CUBN
(S3599P)
Single nucleotide variant
(missense variant)
Proteinuria, chronic benign
+2 more
GUncertain significance
CUBN
(S3579F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
CUBN
(A3577S)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 1
+4 more
GUncertain significance
CUBN
(E3538*)
Single nucleotide variant
(nonsense)
Imerslund-Grasbeck syndrome type 1
+3 more
GPathogenic/Likely pathogenic
CUBN
(G3526S)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 1
+2 more
GUncertain significance
CUBN
(R3488*)
Single nucleotide variant
(nonsense)
Imerslund-Grasbeck syndrome
+2 more
GPathogenic/Likely pathogenic
CUBN
Single nucleotide variant
(intron variant)
Imerslund-Grasbeck syndrome type 1
+2 more
GUncertain significance
CUBN
(D3451N)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 1
+2 more
GUncertain significance
CUBN
(E3443K)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome
+3 more
GUncertain significance
CUBN
(P3412L)
Single nucleotide variant
(missense variant)
Proteinuria, chronic benign
+2 more
GUncertain significance
CUBN
(S3369G)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 1
+3 more
GUncertain significance
CUBN
(M3368V)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 1
+3 more
GUncertain significance
CUBN
Single nucleotide variant
(synonymous variant)
Imerslund-Grasbeck syndrome type 1
+2 more
GConflicting classifications of pathogenicity
CUBN
Single nucleotide variant
(synonymous variant)
Imerslund-Grasbeck syndrome
+2 more
GLikely benign
CUBN
(P3343L)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 1
+3 more
GUncertain significance
CUBN
(W3308R)
Single nucleotide variant
(missense variant)
Proteinuria, chronic benign
+1 more
GUncertain significance
CUBN
Single nucleotide variant
(intron variant)
Proteinuria, chronic benign
+2 more
GLikely benign
CUBN
Single nucleotide variant
(synonymous variant)
Imerslund-Grasbeck syndrome
+3 more
GLikely benign
CUBN
(N3176S)
Single nucleotide variant
(missense variant)
Proteinuria, chronic benign
+2 more
GUncertain significance
CUBN
Single nucleotide variant
(intron variant)
Imerslund-Grasbeck syndrome type 1
+2 more
GLikely benign
CUBN
(D3100N)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 1
+3 more
GUncertain significance
CUBN
Single nucleotide variant
(synonymous variant)
Imerslund-Grasbeck syndrome
+2 more
GLikely benign
CUBN
(I3047V)
Single nucleotide variant
(missense variant)
Proteinuria, chronic benign
+2 more
GUncertain significance
CUBN
(E3021K)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 1
+3 more
GConflicting classifications of pathogenicity
CUBN
(P3012L)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 1
+3 more
GUncertain significance
CUBN
Single nucleotide variant
(synonymous variant)
Proteinuria, chronic benign
+2 more
GLikely benign
CUBN
(S2964C)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 1
+1 more
GUncertain significance
CUBN
(N2942S)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 1
+2 more
GUncertain significance
CUBN
(R2919*)
Single nucleotide variant
(nonsense)
Proteinuria, chronic benign
+1 more
GLikely pathogenic
CUBN
(V2901I)
Single nucleotide variant
(missense variant)
CUBN-related disorder
+3 more
GUncertain significance
CUBN
(P2894A)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome
+3 more
GUncertain significance
CUBN
(V2886M)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 1
+2 more
GUncertain significance
CUBN
(E2873K)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 1
+3 more
GUncertain significance
CUBN
(C2860G)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome
+3 more
GUncertain significance
CUBN
(G2856S)
Single nucleotide variant
(missense variant)
Proteinuria, chronic benign
+2 more
GUncertain significance
CUBN
(W2821*)
Single nucleotide variant
(nonsense)
Imerslund-Grasbeck syndrome type 1
+2 more
GPathogenic
CUBN
Single nucleotide variant
(intron variant)
Imerslund-Grasbeck syndrome
+2 more
GLikely benign
CUBN
(P2758L)
Single nucleotide variant
(missense variant)
Proteinuria, chronic benign
+1 more
GUncertain significance
CUBN
(T2741N)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 1
+1 more
GUncertain significance
CUBN
(D2735A)
Single nucleotide variant
(missense variant)
Proteinuria, chronic benign
+2 more
GUncertain significance
CUBN
(G2695D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
CUBN
(G2691R)
Single nucleotide variant
(missense variant)
Proteinuria, chronic benign
+3 more
GUncertain significance
CUBN
(F2686L)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 1
+2 more
GUncertain significance
CUBN
(R2674H)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 1
+2 more
GConflicting classifications of pathogenicity
CUBN
(Q2664E)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 1
+2 more
GUncertain significance
CUBN
(V2659A)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
CUBN
Single nucleotide variant
(synonymous variant)
Imerslund-Grasbeck syndrome
+2 more
GLikely benign
CUBN
(D2639V)
Single nucleotide variant
(missense variant)
Proteinuria, chronic benign
+2 more
GUncertain significance
CUBN
Single nucleotide variant
(intron variant)
Imerslund-Grasbeck syndrome
+2 more
GLikely benign
CUBN
Single nucleotide variant
(synonymous variant)
Imerslund-Grasbeck syndrome type 1
+2 more
GLikely benign
CUBN
Single nucleotide variant
(synonymous variant)
Proteinuria, chronic benign
+2 more
GConflicting classifications of pathogenicity
CUBN
(P2469L)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 1
+1 more
GUncertain significance
CUBN
(Y2468C)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome
+2 more
GUncertain significance
CUBN
(P2466R)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome
+2 more
GUncertain significance
CUBN
(I2460V)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome
+2 more
GUncertain significance
CUBN
(D2455Y)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome
+2 more
GUncertain significance
CUBN
(R2444Q)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 1
+2 more
GUncertain significance
CUBN
(G2369V)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 1
+3 more
GUncertain significance
CUBN
(W2365*)
Single nucleotide variant
(nonsense)
Imerslund-Grasbeck syndrome type 1
+2 more
GPathogenic/Likely pathogenic
CUBN
Single nucleotide variant
(intron variant)
Imerslund-Grasbeck syndrome type 1
+2 more
GLikely benign
CUBN
(S2321I)
Single nucleotide variant
(missense variant)
Proteinuria, chronic benign
+1 more
GUncertain significance
CUBN
(E2310fs)
Deletion
(frameshift variant)
Chronic kidney disease
+4 more
GPathogenic
CUBN
(R2283W)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
CUBN
(N2278S)
Single nucleotide variant
(missense variant)
Proteinuria, chronic benign
+2 more
GUncertain significance
CUBN
Single nucleotide variant
(intron variant)
Proteinuria, chronic benign
+3 more
GConflicting classifications of pathogenicity
CUBN
Single nucleotide variant
(intron variant)
Imerslund-Grasbeck syndrome type 1
+1 more
GUncertain significance
CUBN
Single nucleotide variant
(splice donor variant)
Imerslund-Grasbeck syndrome type 1
+3 more
GConflicting classifications of pathogenicity
CUBN
(P2243L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
CUBN
(V2221I)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
CUBN
(G2205R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GUncertain significance
CUBN
(S2187L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CUBN
(D2160G)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
CUBN
Single nucleotide variant
(intron variant)
Imerslund-Grasbeck syndrome
+2 more
GBenign/Likely benign
CUBN
(G2093S)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 1
+2 more
GUncertain significance
CUBN
(S2087C)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 1
+3 more
GUncertain significance
CUBN
(N2085S)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 1
+2 more
GUncertain significance
CUBN
(I2071V)
Single nucleotide variant
(missense variant)
Proteinuria, chronic benign
+2 more
GUncertain significance
CUBN
(R2063W)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome
+4 more
GUncertain significance
CUBN
(R2030*)
Single nucleotide variant
(nonsense)
Imerslund-Grasbeck syndrome
+3 more
GPathogenic/Likely pathogenic
CUBN
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
CUBN
(T2007M)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome
+4 more
GConflicting classifications of pathogenicity
CUBN
Single nucleotide variant
(synonymous variant)
Imerslund-Grasbeck syndrome type 1
+2 more
GUncertain significance
CUBN
(V1989M)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 1
+2 more
GUncertain significance
CUBN
Single nucleotide variant
(synonymous variant)
Imerslund-Grasbeck syndrome type 1
+2 more
GLikely benign
CUBN
(D1986V)
Single nucleotide variant
(missense variant)
Proteinuria, chronic benign
+3 more
GUncertain significance
CUBN
(I1973V)
Single nucleotide variant
(missense variant)
Proteinuria, chronic benign
+1 more
GUncertain significance
CUBN
(P1971T)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 1
+3 more
GBenign/Likely benign
CUBN
Single nucleotide variant
(synonymous variant)
Proteinuria, chronic benign
+2 more
GLikely benign
CUBN
(A1920T)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 1
+3 more
GUncertain significance
CUBN
Single nucleotide variant
(intron variant)
Imerslund-Grasbeck syndrome type 1
+2 more
GLikely benign
CUBN
(P1866L)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 1
+2 more
GUncertain significance
CUBN
(H1860Q)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 1
+2 more
GUncertain significance
CUBN
(I1850L)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 1
+2 more
GUncertain significance
CUBN
Single nucleotide variant
(synonymous variant)
Imerslund-Grasbeck syndrome
+2 more
GLikely benign
CUBN
(I1823V)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 1
+2 more
GUncertain significance
CUBN
(R1810*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic/Likely pathogenic
CUBN
Single nucleotide variant
(synonymous variant)
Imerslund-Grasbeck syndrome
+2 more
GLikely benign
CUBN
(H1806N)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 1
+3 more
GUncertain significance
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