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Items: 47

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HBB, LOC107133510
+1 more
Single nucleotide variant
(3 prime UTR variant)
beta Thalassemia
+1 more
GPathogenic/Likely pathogenic
LOC110006319, HBB
+1 more
Single nucleotide variant
(3 prime UTR variant)
Hemoglobinopathy
+1 more
GPathogenic
HBB, LOC107133510
+1 more
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GPathogenic
LOC107133510, LOC110006319
+1 more
Single nucleotide variant
(3 prime UTR variant)
Beta thalassemia intermedia
+1 more
GPathogenic/Likely pathogenic
HBB, LOC107133510
+1 more
(E122K)
Single nucleotide variant
(missense variant)
Beta-thalassemia HBB/LCRB
+11 more
GPathogenic/Likely pathogenic
LOC110006319, LOC107133510
+1 more
(E122Q)
Single nucleotide variant
(missense variant)
Hemoglobin D disease
+5 more
GPathogenic/Likely pathogenic
HBB, LOC107133510
+1 more
Single nucleotide variant
(splice acceptor variant)
Beta-thalassemia HBB/LCRB
+10 more
GPathogenic
HBB, LOC107133510
+1 more
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic
HBB, LOC107133510
+1 more
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
LOC107133510, LOC110006319
+1 more
Single nucleotide variant
(intron variant)
Beta-thalassemia HBB/LCRB
+10 more
GPathogenic
HBB, LOC107133510
+1 more
Single nucleotide variant
(intron variant)
HBB-related condition
+4 more
GPathogenic
LOC106099062, LOC107133510
+2 more
Single nucleotide variant
(splice donor variant)
Beta-thalassemia HBB/LCRB
+11 more
GPathogenic
HBB, LOC106099062
+1 more
(F46fs)
Deletion
(frameshift variant)
Beta-thalassemia HBB/LCRB
+10 more
GPathogenic/Likely pathogenic
HBB, LOC106099062
+1 more
(F42fs)
Deletion
(frameshift variant)
Beta-thalassemia HBB/LCRB
+13 more
GPathogenic/Likely pathogenic
HBB, LOC106099062
+1 more
(Q40*)
Single nucleotide variant
(nonsense)
not provided
+12 more
GPathogenic
HBB, LOC106099062
+1 more
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+12 more
GPathogenic/Likely pathogenic
HBB, LOC106099062
+1 more
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+12 more
GConflicting classifications of pathogenicity
LOC106099062, LOC107133510
+1 more
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+13 more
GPathogenic
LOC107133510, HBB
+1 more
Single nucleotide variant
(splice donor variant)
Beta-thalassemia HBB/LCRB
+11 more
GPathogenic
HBB, LOC106099062
+1 more
(A28S)
Single nucleotide variant
(missense variant)
Hemoglobinopathy
+4 more
GPathogenic/Likely pathogenic
HBB, LOC106099062
+1 more
(E27K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+15 more
GPathogenic
HBB, LOC106099062
+1 more
Single nucleotide variant
(synonymous variant)
not provided
+10 more
GPathogenic/Likely pathogenic
HBB, LOC106099062
+1 more
Single nucleotide variant
(synonymous variant)
beta Thalassemia
Gnot provided
HBB, LOC106099062
+1 more
(N20S)
Single nucleotide variant
(missense variant)
not specified
+2 more
GPathogenic
HBB, LOC106099062
+1 more
(K18*)
Single nucleotide variant
(nonsense)
Beta-thalassemia HBB/LCRB
+10 more
GPathogenic
HBB, LOC106099062
+1 more
(S10fs)
Duplication
(frameshift variant)
Beta-thalassemia HBB/LCRB
+12 more
GConflicting classifications of pathogenicity
HBB, LOC106099062
+1 more
(K9fs)
Deletion
(frameshift variant)
Beta-thalassemia HBB/LCRB
+4 more
GPathogenic
HBB, LOC106099062
+1 more
(E7fs)
Deletion
(frameshift variant)
Beta-thalassemia HBB/LCRB
+10 more
GPathogenic
LOC106099062, LOC107133510
+1 more
(E7V)
Single nucleotide variant
(missense variant)
not provided
+16 more
GPathogenic
LOC106099062, LOC107133510
+1 more
(E7K)
Single nucleotide variant
(missense variant)
HBB-related condition
+16 more
GPathogenic
HBB, LOC106099062
+1 more
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GPathogenic
HBB, LOC106099062
+1 more
Single nucleotide variant
(5 prime UTR variant)
Hemoglobinopathy
+1 more
GPathogenic
LOC106099062, LOC107133510
+1 more
Deletion
(5 prime UTR variant)
beta Thalassemia
Gnot provided
HBB, LOC106099062
+1 more
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GPathogenic
LOC107133510, HBB
+1 more
Single nucleotide variant
not provided
+2 more
GPathogenic/Likely pathogenic
HBB, LOC106099062
+1 more
Single nucleotide variant
Beta-thalassemia HBB/LCRB
+11 more
GPathogenic
HBB, LOC106099062
+1 more
Single nucleotide variant
not provided
+2 more
GPathogenic
HBB, LOC106099062
+1 more
Single nucleotide variant
not provided
+1 more
GPathogenic
HBB, LOC106099062
+1 more
Single nucleotide variant
not provided
GPathogenic/Likely pathogenic
HBB, LOC106099062
+1 more
Single nucleotide variant
not provided
+2 more
GPathogenic
HBB, LOC106099062
+1 more
Single nucleotide variant
Beta-thalassemia HBB/LCRB
+12 more
GPathogenic/Likely pathogenic
HBB, LOC106099062
+1 more
Single nucleotide variant
Beta-thalassemia HBB/LCRB
+11 more
GPathogenic/Likely pathogenic
HBB, LOC106099062
+1 more
Single nucleotide variant
beta Thalassemia
+11 more
GConflicting classifications of pathogenicity
LOC107133510, HBB
+1 more
Single nucleotide variant
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
HBB, LOC106099062
+1 more
Single nucleotide variant
Beta-thalassemia HBB/LCRB
+3 more
GPathogenic/Likely pathogenic
LOC107133510, HBB
+1 more
Single nucleotide variant
not provided
+1 more
GPathogenic
HBB, LOC106099062
+1 more
Single nucleotide variant
Beta-thalassemia HBB/LCRB
+11 more
GConflicting classifications of pathogenicity
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