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Items: 1 to 100 of 419

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126860819, LOC126860820
+680 more
Copy number gain
See cases
GPathogenic
CUBN
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
CUBN
Single nucleotide variant
(3 prime UTR variant)
Imerslund-Grasbeck syndrome type 1
+1 more
GBenign/Likely benign
CUBN
Single nucleotide variant
(3 prime UTR variant)
Imerslund-Grasbeck syndrome type 1
+1 more
GBenign
CUBN
Single nucleotide variant
(3 prime UTR variant)
Imerslund-Grasbeck syndrome type 1
+1 more
GBenign/Likely benign
CUBN
Single nucleotide variant
(3 prime UTR variant)
Imerslund-Grasbeck syndrome type 1
+1 more
GBenign/Likely benign
CUBN
(R3612W)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome
+1 more
GConflicting classifications of pathogenicity
CUBN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CUBN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CUBN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CUBN
Single nucleotide variant
(intron variant)
not provided
GBenign
CUBN
Single nucleotide variant
(intron variant)
not provided
GBenign
CUBN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CUBN
Deletion
(intron variant)
not provided
GLikely benign
CUBN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CUBN
Single nucleotide variant
(synonymous variant)
Imerslund-Grasbeck syndrome
+2 more
GBenign/Likely benign
CUBN
(N3552K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
CUBN
Microsatellite
(intron variant)
not provided
GLikely benign
CUBN
Single nucleotide variant
(intron variant)
not provided
GBenign
CUBN
Duplication
(intron variant)
not provided
GBenign
CUBN
Duplication
(intron variant)
not provided
GBenign
CUBN
Duplication
(intron variant)
not provided
GBenign
CUBN
Duplication
(intron variant)
not provided
GBenign
CUBN
Deletion
(intron variant)
not provided
GBenign
CUBN
Insertion
(intron variant)
not provided
GBenign
CUBN
Single nucleotide variant
(intron variant)
not provided
GBenign
CUBN
Single nucleotide variant
(intron variant)
not provided
GBenign
CUBN
Single nucleotide variant
(intron variant)
not provided
GBenign
CUBN
Duplication
(intron variant)
not provided
GLikely benign
CUBN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CUBN
Single nucleotide variant
(synonymous variant)
Imerslund-Grasbeck syndrome type 1
+2 more
GBenign/Likely benign
CUBN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CUBN
Single nucleotide variant
(intron variant)
not provided
GBenign
CUBN
Single nucleotide variant
(intron variant)
not provided
GBenign
CUBN
Single nucleotide variant
(intron variant)
not provided
GBenign
CUBN
Single nucleotide variant
(intron variant)
not provided
GBenign
CUBN
Single nucleotide variant
(intron variant)
not provided
GBenign
CUBN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CUBN
Single nucleotide variant
(intron variant)
not provided
GBenign
CUBN
(T3432S)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 1
+2 more
GBenign
CUBN
(T3426R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUBN
(T3422I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
CUBN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CUBN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CUBN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CUBN
Single nucleotide variant
(intron variant)
not provided
GBenign
CUBN
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
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
(M3368V)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 1
+3 more
GUncertain significance
CUBN
Single nucleotide variant
(intron variant)
Imerslund-Grasbeck syndrome
+1 more
GBenign/Likely benign
CUBN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CUBN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CUBN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CUBN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CUBN
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
CUBN
(S3329L)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 1
+2 more
GBenign/Likely benign
CUBN
Single nucleotide variant
(synonymous variant)
Imerslund-Grasbeck syndrome type 1
+2 more
GBenign
CUBN
(N3229Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CUBN
(I3189V)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 1
+2 more
GBenign/Likely benign
CUBN
(S3164W)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 1
+2 more
GBenign/Likely benign
CUBN
Deletion
(intron variant)
not provided
GLikely benign
CUBN
Insertion
(intron variant)
not provided
GBenign
CUBN
Duplication
(intron variant)
not provided
GBenign
CUBN
Deletion
(intron variant)
not provided
GBenign
CUBN
Deletion
(intron variant)
not provided
GLikely benign
CUBN
Single nucleotide variant
(intron variant)
not provided
GBenign
CUBN
Single nucleotide variant
(intron variant)
not provided
GBenign
CUBN
(G3114S)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome
+2 more
GBenign/Likely benign
CUBN
Single nucleotide variant
(intron variant)
not provided
GBenign
CUBN
Single nucleotide variant
(intron variant)
not provided
GBenign
CUBN
Single nucleotide variant
(intron variant)
not provided
GBenign
CUBN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CUBN
Single nucleotide variant
(synonymous variant)
Imerslund-Grasbeck syndrome
+1 more
GBenign/Likely benign
CUBN
Single nucleotide variant
(synonymous variant)
Imerslund-Grasbeck syndrome
+1 more
GBenign/Likely benign
CUBN
Microsatellite
(intron variant)
not provided
GBenign
CUBN
Single nucleotide variant
(intron variant)
not provided
GBenign
CUBN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CUBN
(G3027R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CUBN
Single nucleotide variant
(synonymous variant)
Imerslund-Grasbeck syndrome
+2 more
GBenign
CUBN
(E3002G)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 1
+2 more
GBenign
CUBN
(I2984V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
CUBN
(R2970C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CUBN
Single nucleotide variant
(intron variant)
not provided
GBenign
CUBN
Single nucleotide variant
(intron variant)
not provided
GBenign
CUBN
Single nucleotide variant
(intron variant)
not provided
GBenign
CUBN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CUBN
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
CUBN
Single nucleotide variant
(intron variant)
not provided
GBenign
CUBN
(E2968Q)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 1
+2 more
GBenign/Likely benign
CUBN
(F2965S)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome
+3 more
GConflicting classifications of pathogenicity
CUBN
(S2922N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CUBN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CUBN
Microsatellite
(intron variant)
not provided
GLikely benign
CUBN
Single nucleotide variant
(intron variant)
not provided
GBenign
CUBN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CUBN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CUBN
Single nucleotide variant
(intron variant)
not provided
GBenign
CUBN
Single nucleotide variant
(intron variant)
not provided
GBenign
CUBN
(A2914V)
Single nucleotide variant
(missense variant)
Imerslund-Grasbeck syndrome type 1
+2 more
GBenign
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