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Items: 38

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HBB, LOC107133510
+1 more
(E122K)
Single nucleotide variant
(missense variant)
Beta-thalassemia HBB/LCRB
+11 more
GPathogenic/Likely pathogenic
HBB, LOC107133510
+1 more
Single nucleotide variant
(splice acceptor variant)
Beta-thalassemia HBB/LCRB
+10 more
GPathogenic
LOC107133510, LOC110006319
+1 more
Single nucleotide variant
(intron variant)
Beta-thalassemia HBB/LCRB
+10 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
(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
(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
(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
Beta-thalassemia HBB/LCRB
+11 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
HBB, LOC106099062
+1 more
Single nucleotide variant
Beta-thalassemia HBB/LCRB
+11 more
GConflicting classifications of pathogenicity
HBM, HBZ
+4 more
Deletion
alpha Thalassemia
GPathogenic
HBA1, HBA2
+2 more
Deletion
alpha Thalassemia
GPathogenic
LOC106804613, HBA1
+2 more
Deletion
alpha Thalassemia
GPathogenic
LOC106804613, HBA1
+2 more
Deletion
alpha Thalassemia
GPathogenic
HBA2, LOC106804612
(M1T)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
LOC106804612, HBA2
(R32fs)
Microsatellite
(frameshift variant)
not provided
GPathogenic
HBA2, LOC106804612
Deletion
(splice donor variant)
Heinz body anemia
+4 more
GPathogenic
HBA2, LOC106804612
(N69K)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
HBA2, LOC106804612
(H113Q)
Deletion
(inframe_deletion +1 more)
alpha Thalassemia
GPathogenic
HBA2, LOC106804612
(L126P)
Single nucleotide variant
(missense variant)
Hemoglobin H disease
+4 more
GPathogenic
HBA1, HBA2
+1 more
Single nucleotide variant
(stop lost)
not provided
+1 more
GPathogenic
HBA2, LOC106804612
Single nucleotide variant
(3 prime UTR variant)
Hemoglobin H disease
+5 more
GConflicting classifications of pathogenicity
HBA1, LOC106804613
(N69K)
Single nucleotide variant
(missense variant)
alpha Thalassemia
Gnot provided
HBA1, LOC106804613
(D75H)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
HBA2
Deletion
alpha Thalassemia
GPathogenic
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